POLG - DNA polymerase gamma, catalytic subunit Gene

Also Known as PEO; MDP1; SCAE; MIRAS; POLG1; POLGA; SANDO; MTDPS4A; MTDPS4B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5428

About POLG

Cytogenetic location: 15q26.1 Genomic coordinates (GRCh38): 15:89,316,320-89,334,824 (from NCBI)

This gene has 30 transcripts (splice variants), 203 orthologues and is associated with 85 phenotypes. Ubiquitous expression in lymph node (RPKM 14.2), spleen (RPKM 13.3) and 25 other tissues.

Summary

Mitochondrial DNA Polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA Polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

POLG Products (2)

mRNA Protein Name
NM_001126131.2 NP_001119603.1 DNA polymerase subunit gamma-1
NM_002693.3 NP_002684.1 DNA polymerase subunit gamma-1
Molecular Function GO Annotation Evidence References Source
enables 3'-5' exonuclease activity IDA
IDA: Inferred from direct assay
28430993 GOA
enables 3'-5' exonuclease activity IMP
IMP: Inferred from mutant phenotype
26554610 GOA
enables 5'-deoxyribose-5-phosphate lyase activity IDA
IDA: Inferred from direct assay
9770471 GOA
enables DNA binding IDA
IDA: Inferred from direct assay
10608893 GOA
enables DNA-directed DNA polymerase activity IDA
IDA: Inferred from direct assay
10608893 GOA
enables DNA-directed DNA polymerase activity IMP
IMP: Inferred from mutant phenotype
26554610 GOA
enables chromatin binding IDA
IDA: Inferred from direct assay
18063578 GOA
enables protease binding IPI
IPI: Inferred from physical interaction
14739292 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10608893 GOA
enables single-stranded DNA 3'-5' DNA exonuclease activity IDA
IDA: Inferred from direct assay
11897778 GOA
enables single-stranded DNA 3'-5' DNA exonuclease activity IMP
IMP: Inferred from mutant phenotype
37202477 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA replication proofreading IDA
IDA: Inferred from direct assay
37202477 GOA
involved in DNA replication proofreading IMP
IMP: Inferred from mutant phenotype
11897778 GOA
involved in DNA-templated DNA replication IDA
IDA: Inferred from direct assay
10608893 GOA
involved in base-excision repair IDA
IDA: Inferred from direct assay
9770471 GOA
acts upstream of or within base-excision repair, gap-filling IDA
IDA: Inferred from direct assay
15177179 GOA
involved in mitochondrial DNA replication IDA
IDA: Inferred from direct assay
19837034 GOA
involved in mitochondrial DNA replication IMP
IMP: Inferred from mutant phenotype
26554610 GOA
Cellular Component GO Annotation Evidence References Source
part of gamma DNA polymerase complex IDA
IDA: Inferred from direct assay
10608893 GOA
part of gamma DNA polymerase complex IPI
IPI: Inferred from physical interaction
19837034 GOA
is active in mitochondrial chromosome IDA
IDA: Inferred from direct assay
26253742 GOA
located in mitochondrial matrix IDA
IDA: Inferred from direct assay
19837034 GOA
located in mitochondrial nucleoid IDA
IDA: Inferred from direct assay
18063578 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
25378300 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POLG Protein Structure

DNA_pol_A

DNA_pol_A: DNA polymerase family A (731 - 1182)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1239 a.a.
Protein Preferred Names Protein Names

DNA polymerase subunit gamma-1

  • PolG-alpha

POLG Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
POLG P54098 POLG2 Homo sapiens Q9UHN1
GMS
16263719
Intra
POLG P54098 POLG2 Homo sapiens Q9UHN1
ITC
16263719
Intra
POLG P54098 POLG2 Homo sapiens Q9UHN1
SPR
16263719
Intra
POLG P54098 POLG2 Homo sapiens Q9UHN1 16263719
Intra
POLG P54098 POLG2 Homo sapiens Q9UHN1
GMS
19837034
Cross: Cross-species interaction Intra: Intraspecies interaction

POLG Antibodies

Cat. No. Product Name Application Reactivity
HY-P83038 POLG Antibody (YA2783) WB Human, Mouse, Rat
HY-P83038A POLG Antibody (YA2783)(PBS only) WB Human, Mouse, Rat
HY-P83425 POLG Antibody (YA3170) WB Human
HY-P83425A POLG Antibody (YA3170)(PBS only) WB Human

Related Diseases

Diseases Alias
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
  • SANDO

  • Mitochondrial Recessive Ataxia Syndrome

  • Spinocerebellar Ataxia With Epilepsy

  • Epilepsy, Progressive Myoclonic 5

  • Epm5

  • Miras

  • SCAE

  • Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive

  • Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions

  • Progressive Myoclonic Epilepsy Type 5

  • Pme Type 5

  • Progressive Myoclonus Epilepsy Type 5

  • Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome

  • Recessive Mitochondrial Ataxia Syndrome

  • Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis

  • Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome

  • Mscae

  • Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive

  • Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy

  • Epilepsy, Progressive Myoclonic, 5

  • Ataxia Neuropathy Spectrum

Mitochondrial Dna Depletion Syndrome 4a
  • Alpers Syndrome

  • Alpers-Huttenlocher Syndrome

  • Alpers Progressive Infantile Poliodystrophy

  • Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis

  • Alpers Disease

  • Progressive Sclerosing Poliodystrophy

  • Pndc

  • Diffuse Cerebral Sclerosis Of Schilder

  • MTDPS4A

  • Neuronal Degeneration Of Childhood With Liver Disease, Progressive

  • Alper'S Syndrome

  • Alpers' Disease Or Gray-Matter Degeneration

  • Diffuse Cerebral Degeneration In Infancy

  • Infantile Poliodystrophy

  • Poliodystrophia Cerebri Progressiva

  • Progressive Cerebral Poliodystrophy

  • Alpers' Disease

  • Alpers Progressive Sclerosing Poliodystrophy

  • Progressive Neuronal Degeneration Of Childhood With Liver Disease

  • Ahs

  • Mitochondrial Dna Depletion Syndrome 4a Alpers Type

  • Neuronal Degeneration Of Childhood With Liver Disease Progressive

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
  • PEOB1

  • Autosomal Recessive Progressive External Ophthalmoplegia

  • Progressive External Ophthalmoplegia, Autosomal Recessive 1

  • Arpeo

  • Chronic Progressive External Ophthalmoplegia

  • Autosomal Recessive Progressive External Ophthalmoplegia 1

  • Cerebellar Ataxia Infantile With Progressive External Ophthalmoplegia

  • Progressive External Ophthalmoplegia With Cerebellar Ataxia Infantile

  • Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive, 1

  • Cpeo

  • Graefe Disease

  • Mitochondrial Ocular Myopathy

  • Ocular Myopathy Of Von Graefe-Fuchs

  • Progressive External Ophthalmoplegia Autosomal Recessive

  • Progressive External Ophthalmoplegia, Autosomal Recessive

  • Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Recessive, Type 1

  • Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive

  • Kearns-Sayre Syndrome

Mitochondrial Dna Depletion Syndrome 4b
  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

  • Mngie Syndrome

  • Thymidine Phosphorylase Deficiency

  • MTDPS4B

  • Mitochondrial Neurogastrointestinal Encephalopathy Disease

  • Mngie

  • Myoneurogastrointestinal Encephalopathy Syndrome

  • Ogimd

  • Oculogastrointestinal Muscular Dystrophy

  • Polip

  • Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction

  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related

  • Mngie, Polg-Related

  • Mepop

  • Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction

  • Mngie Disease

  • Mitochondrial Dna Depletion Syndrome 4b Mngie Type

  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related

  • Mngie Polg-Related

  • Mitochondrial Dna Depletion Syndrome, Type 4b

  • Visceral Myopathy Familial External Ophthalmoplegia

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
  • PEOA1

  • Autosomal Dominant Progressive External Ophthalmoplegia 1

  • Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 1

  • Chronic Progressive External Ophthalmoplegia

  • Progressive External Ophthalmoplegia, Autosomal Dominant 1

  • Cpeo

  • Graefe Disease

  • Mitochondrial Ocular Myopathy

  • Ocular Myopathy Of Von Graefe-Fuchs

  • Progressive External Ophthalmoplegia Autosomal Dominant

  • Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 1

  • Kearns-Sayre Syndrome

Myoclonic Epilepsy Myopathy Sensory Ataxia
  • Spinocerebellar Ataxia With Epilepsy

  • Scae

  • Memsa

  • Mscae

  • Mitochondrial Spinocerebellar Ataxia With Epilepsy

Mitochondrial Neurogastrointestinal Encephalomyopathy
  • Mngie

  • Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome

  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Polg-Related Disorders
  • Polg- Related Disorder

Autosomal Dominant Cerebellar Ataxia
  • Spinocerebellar Ataxia

  • Adca

  • Pierre Marie Cerebellar Ataxia

  • Ataxia, Spinocerebellar

  • Sca

  • Autosomal Dominant Spinocerebellar Ataxia

  • Spinocerebellar Ataxias

Childhood Myocerebrohepatopathy Spectrum
  • Mchs

  • Childhood Myocerebrohepatopathy Spectrum Disorders

Mitochondrial Dna Depletion Syndrome 1
  • MTDPS1

  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related

  • Myoneurogastrointestinal Encephalopathy Syndrome

  • Polip Syndrome

  • Mitochondrial Dna Depletion Syndrome, Type 1

  • Mngie, Tymp-Related

  • Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction

  • Mitochondrial Dna Depletion Syndrome 1, Mngie Type

  • Mitochondrial Neurogastrointestinal Encephalomyopathy

  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related

  • Myoneurogastrointestinal Encephalomyopathy

  • Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction

  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Camptocormism
  • Idiopathic Camptocormia

  • Idiopathic Camptocormism

  • Idiopathic Progressive Lumbar Kyphosis

  • Bent Spine Syndrome

  • Bent Spine

  • Camptocormia

Fanconi Anemia, Complementation Group I
  • Fanconi Anemia Complementation Group I

  • FANCI

Intellectual Developmental Disorder, X-Linked 108
  • MRX108

  • X-Linked Intellectual Developmental Disorder 108

  • Mental Retardation, X-Linked 108

  • Mental Retardation, X-Linked, Type 108

Mitochondrial Disease
  • Mitochondrial Diseases

  • Mitochondrial Disorder

Machado-Joseph Disease
  • SCA3

  • MJD

  • Spinocerebellar Ataxia 3

  • Azorean Disease

  • Spinocerebellar Ataxia Type 3

  • Spinocerebellar Atrophy

  • Azorean Neurologic Disease

  • Spinopontine Atrophy

  • Nigrospinodentatal Degeneration

  • Spinocerebellar Atrophy Iii

  • Spinocerebellar Atrophy Type 3

  • Azorean Ataxia

  • Azorean Disease Of The Nervous System

  • Machado Disease

  • Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

  • Disease, Machado-Joseph

  • Ataxia, Spinocerebellar

Autosomal Dominant Progressive External Ophthalmoplegia
  • Adpeo

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Leigh Syndrome
  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy

Mitochondrial Dna Depletion Syndrome
  • Mtdna Depletion Syndrome

Chronic Progressive External Ophthalmoplegia
  • Progressive External Ophthalmoplegia

  • Cpeo

  • Peo

  • Ophthalmoplegia, Chronic Progressive External

  • Ophthalmoplegia, External, Progressive, Chronic

  • Graefe Disease

  • Peo - [Progressive External Ophthalmoplegia]

  • Ophthalmoplegia Plus Syndrome

Status Epilepticus
  • Grand Mal Status Epilepticus

  • Grand Mal Status

  • Gcse

  • Generalized Convulsive Status Epilepticus

  • Se

  • Epilepsy With Status Epilepticus

Acute Liver Failure
  • Fulminant Hepatic Failure

  • Acute Hepatic Failure

  • Liver Failure Acute

  • Hepatic Failure Fulminant

  • Liver Failure, Acute

Coenzyme Q10 Deficiency Disease
  • Coenzyme Q10 Deficiency

  • Coq10 Deficiency

  • Primary Coenzyme Q10 Deficiency

  • Coenzyme Q Deficiency

  • Coq Deficiency

  • Primary Coq10 Deficiency

  • Ubiquinone Deficiency

  • Coenzyme Q10 Deficiency, Primary

  • Coq10 Deficiency, Primary

Parkinsonism
  • Parkinsonism-Plus

  • Idiopathic Parkinsonism

  • Primary Parkinsonism

  • Paralysis Agitans Syndrome

  • Parkinsonian Syndrome

  • Trembling Paralysis

  • Paralysis Agitans

  • Shaking Palsy

  • Shaking Paralysis

Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Premature Menopause
  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos

Cortical Blindness
  • Blindness, Cortical

Mitochondrial Myopathy
  • Mitochondrial Myopathies

  • Mitochondrial Cytopathy

  • Myopathies In Mitochondrial Disorders

Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Lactic Acidosis
  • Acidosis, Lactic

  • Acidosis Lactic

Mitochondrial Metabolism Disease
  • Abnormality Of Mitochondrial Metabolism

  • Mitochondrial Diseases

Myopathy
  • Muscular Diseases

  • Myopathies

Bipolar Disorder
  • Bipolar Depression

  • Manic Disorder

  • Depression, Bipolar

  • Bipolar Disorder Manic Phase

  • Depressive-Manic Psych.

  • Manic Bipolar Affective Disorder

  • Manic Bipolar I Disorder

  • Manic Depression

  • Manic Depressive Disorder

  • Mixed Bipolar Disorder

  • Bipolar Affective Disorder

  • Bipolar Affective Psychosis

  • Bipolar Spectrum Disorder

  • Manic Depressive Illness

  • Depression Bipolar

  • Bipolar Disorder, Mixed

  • Major Affective Disorder

  • Major Affective Disorder 1

  • Major Affective Disorder 2

Intestinal Pseudo-Obstruction
  • Chronic Intestinal Pseudoobstruction

  • Chronic Intestinal Pseudo-Obstruction

  • Cipo

  • Neuronal Intestinal Dysplasia

  • Hollow Visceral Myopathy

  • Familial Visceral Neuropathy

  • Paralytic Ileus

  • Intestinal Pseudoobstruction

  • Chronic Idiopathic Intestinal Pseudo-Obstruction

  • Ciip

  • Congenital Short Bowel Syndrome

  • Enteric Neuropathy

  • Familial Visceral Myopathy

  • Ipo

  • Pseudo-Obstruction Of Intestine

  • Pseudointestinal Obstruction Syndrome

  • Pseudoobstructive Syndrome

  • Congenital Idiopathic Intestinal Pseudoobstruction

  • Visceral Myopathy, Familial

Kearns-Sayre Syndrome
  • Ophthalmoplegia

  • Mitochondrial Cytopathy

  • KSS

  • Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy

  • Oculocraniosomatic Syndrome

  • Chronic Progressive External Ophthalmoplegia With Myopathy

  • Cpeo With Myopathy

  • Total Ophthalmoplegia

  • Ophthalmoplegia-Plus Syndrome

  • Ophthalmoplegia, Progressive External, With Ragged-Red Fibers

  • Cpeo With Ragged-Red Fibers

  • Oculomotor Paralysis

  • Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O

  • Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna

  • Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia

  • Cpeo With Ragged Red Fibers

  • Ophthalmoplegia Plus Syndrome

  • Ophthalmoplegia, Progressive External, With Ragged Red Fibers

  • Kearns-Sayre Mitochondrial Cytopathy

  • Mitochondrial Myopathies

Ocular Motility Disease
  • Ocular Motility Disorders

  • Abnormality Of Eye Movement

  • Disorder Of Eye Movements

  • Eye Movement Disorder

  • Eye Movement Disorders

Mitochondrial Dna Depletion Syndrome 7
  • Ohaha Syndrome

  • Infantile Onset Spinocerebellar Ataxia

  • Iosca

  • Infantile-Onset Spinocerebellar Ataxia

  • Spinocerebellar Ataxia 8

  • MTDPS7

  • Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis

  • Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome

  • Sca8

  • Spinocerebellar Ataxia Infantile With Sensory Neuropathy

  • Spinocerebellar Ataxia, Infantile-Onset

  • Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis

  • Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy

  • Spinocerebellar Ataxia 8, Formerly

  • Sca8, Formerly

  • Iosca, Mitochondrial Dna Depletion Syndrome 7

  • Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis

  • Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

  • Mtdna Depletion Syndrome, Hepatocerebrorenal Form

  • Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type

  • Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis

  • Pure Spinocerebellar Ataxia Japanese Type

  • Sca4 Pure Japanese Type

  • Spinocerebellar Ataxia Infantile-Onset

  • Mitochondrial Dna Depletion Syndrome , Type 7

Axonal Neuropathy
Polyneuropathy
  • Polyneuropathies

Male Infertility
  • Infertility, Male

  • Infertility Male

  • Male Sterility

  • Absolute Infertility

Pearson Marrow-Pancreas Syndrome
  • Pearson Syndrome

  • Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction

  • Pearson'S Marrow/Pancreas Syndrome

  • Pearson'S Syndrome

  • Pearson'S Marrow-Pancreas Syndrome

Central Nervous System Origin Vertigo
  • Vertigo Of Central Origin

  • Vertigo

  • Central Vestibular Vertigo

Visual Cortex Disease
  • Visual Cortex Dysfunction

  • Visual Cortex Disorder

  • Visual Cortical Disorder

  • Disease Of Visual Cortex

Spinocerebellar Ataxia 20
  • Spinocerebellar Ataxia Type 20

  • SCA20

  • Spinocerebellar Ataxia With Dysphonia

  • Spinocerebellar Ataxia With Spasmodic Cough

  • Chromosome 11q12 Duplication Syndrome, 260-Kb

  • Chromosome 11q12 Duplication Syndrome 260-Kb

Neuropathy, Ataxia, And Retinitis Pigmentosa
  • Narp Syndrome

  • NARP

  • Neurogenic Muscle Weakness, Ataxia, And Retinitis Pigmentosa

  • Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome

  • Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome

  • Neuropathy, Ataxia And Retinitis Pigmentosa

  • Neuropathy Ataxia Retinitis Pigmentosa Syndrome

  • Neuropathy, Ataxia, And Retinitis Pigmentos

  • Neuropathy Ataxia And Retinitis Pigmentosa

  • Neuropathy, Ataxia, Retinitis Pigmentosa

  • Neuropathy Ataxia And Retinis Pigmentosa

  • Narp - [Neuropathy, Ataxia And Retinitis Pigmentosa] Syndrome

Partial Motor Epilepsy
  • Epilepsy, Partial, Motor

  • Epilepsy, Focal Motor

  • Focal Motor Seizure

Neonatal Period Electroclinical Syndrome
Visual Pathway Disease
  • Disorder Of Visual Pathways

Mitochondrial Dna Depletion Syndrome 6
  • Navajo Neurohepatopathy

  • Navajo Neuropathy

  • MTDPS6

  • Nnh

  • Nn

  • Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

  • Navajo Familial Neurogenic Arthropathy

  • Mpv17-Associated Hepatocerebral Mds

  • Mitochondrial Dna Depletion 6 Hepatocerebral Type

  • Mitochondrial Dna Depletion Syndrome , Type 6

3-Methylglutaconic Aciduria, Type Iii
  • Optic Atrophy

  • 3-Methylglutaconic Aciduria Type 3

  • Costeff Syndrome

  • Mga3

  • Costeff Optic Atrophy Syndrome

  • Optic Atrophy Plus Syndrome

  • Infantile Optic Atrophy With Chorea And Spastic Paraplegia

  • 3-Methylglutaconic Aciduria Type Iii

  • Autosomal Recessive Optic Atrophy Plus Syndrome

  • Autosomal Recessive Optic Atrophy Type 3

  • Opa3 Defect

  • MGCA3

  • Mga, Type Iii

  • Iraqi Jewish Optic Atrophy Plus

  • Mga Type Iii

  • Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

  • Iraqi-Jewish 'Optic Atrophy Plus'

  • Optic Atrophy 3, Autosomal Recessive

  • Opa3, Autosomal Recessive

  • Opa3-Related 3-Methylglutaconic Aciduria

  • Iraqi-Jewish Optic Atrophy Plus

  • Atrophy Of Optic Disc

  • 3-Alpha Methylglutaconic Aciduria Type Iii

  • Optic Atrophy 3

  • Optic Atrophy Infantile With Chorea And Spastic Paraplegia

  • Autosomal Recessive Opa3

  • Autosomal Recessive Optic Atrophy 3

  • 3-Methylglutaconic Aciduria 3

  • 3-Alpha-Methylglutaconic Aciduria Type 3

  • Optic Atrophy 3 Autosomal Recessive

  • Atrophy, Optic

  • Atrophy, Optic, Plus Syndrome

  • Optic Nerve Atrophy

  • Primary Optic Atrophy

  • Oa - [Optic Atrophy]

  • Second Cranial Nerve Atrophy

  • Second Cranium Nerve Atrophy

Myotonic Cataract
Developmental And Epileptic Encephalopathy 47
  • DEE47

  • Epileptic Encephalopathy, Early Infantile, 47

  • Eiee47

  • Developmental And Epileptic Encephalopathy, 47

  • Early Infantile Epileptic Encephalopathy 47

Internuclear Ophthalmoplegia
  • Ophthalmoplegia Internuclearis

  • Bielschowsky-Lutz-Cogan Syndrome

  • Ino - [Internuclear Ophthalmoplegia]

  • Lhermitte Syndrome

  • Mlf - [Medial Longitudinal Fasciculus] Syndrome

  • Internuclear Paralysis

Pyruvate Dehydrogenase E1-Alpha Deficiency
  • Pyruvate Dehydrogenase Deficiency

  • Pyruvate Dehydrogenase Complex Deficiency

  • Pyruvate Decarboxylase Deficiency

  • Pdh Deficiency

  • PDHAD

  • Pyruvate Dehydrogenase Complex Deficiency Disease

  • Ataxia With Lactic Acidosis I

  • Ataxia With Lactic Acidosis 1

  • Pdh

  • Pdhc

  • Ataxia With Lactic Acidosis

  • Ataxia, Intermittent, With Abnormal Pyruvate Metabolism

  • Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency

  • Deficiency Of Pyruvic Dehydrogenase

  • Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency

  • Pdc Deficiency

  • Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency

  • Pdhc Deficiency

  • Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency

  • Ataxia Intermittent With Abnormal Pyruvate Metabolism

  • Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency

  • Pyruvate Dehydrogenase E1 Alpha Deficiency

  • Pdc - [Pyruvate Dehydrogenase Complex] Deficiency

  • Ataxia With Lactic Acidosis 2

Neuropathy, Hereditary Sensory And Autonomic, Type Iia
  • Hereditary Sensory And Autonomic Neuropathy Type 2

  • Hsan2

  • HSAN2A

  • Morvan Disease

  • Hereditary Sensory And Autonomic Neuropathy Type Ii

  • Neurogenic Acroosteolysis

  • Hsan Iia

  • Hsn2a

  • Hsn Iia

  • Neuropathy, Progressive Sensory, Of Children

  • Neuropathy, Congenital Sensory

  • Neuropathy, Hereditary Sensory And Autonomic, Type Ii

  • Hereditary Sensory And Autonomic Neuropathy Type 2a

  • Hereditary Sensory And Autonomic Neuropathy Type Iia

  • Hsanii

  • Congenital Sensory Neuropathy

  • Hsan Type Ii

  • Morvan Syndrome

  • Neuropathy, Hereditary Sensory And Autonomic, Type 2a

  • Morvan'S Disease

  • Neuropathy, Hereditary Sensory, Type Iia

  • Acroosteolysis, Neurogenic

  • Acroosteolysis, Giaccai Type

  • Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive

  • Hereditary Sensory Autonomic Neuropathy Type 2

  • Giaccai Type Acroosteolysis

  • Hereditary Sensory Neuropathy Type 2

  • Hereditary Sensory Radicular Neuropathy, Recessive Form

  • Hsan2b

  • Hsan2c

  • Hsan2d

  • Hsn Type Ii

  • Autosomal Recessive Sensory Radicular Neuropathy

  • Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome

  • Morvan Fibrillary Chorea

  • Neuropathy, Hereditary Sensory And Autonomic, 2a

  • Acroosteolysis Giaccai Type

  • Hereditary Sensory Neuropathy Type Iia

  • Hereditary Sensory Radicular Neuropathy Autosomal Recessive

  • Progressive Sensory Neuropathy Of Children

  • Neuropathy Congenital Sensory

  • Charcot-Marie-Tooth Disease

  • Neuropathy, Sensory And Autonomic, Hereditary, Type Iia

  • Hereditary Sensory Autonomic Neuropathy, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii

  • Sensory Neuropathy, Hereditary

  • Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Cranial Nerve Disease
  • Cranial Nerve Disorder

  • Disorder Of Cranial Nerve

  • Cranial Nerve Diseases

Early Myoclonic Encephalopathy
  • Myoclonic Epilepsy

  • Myoclonic Seizure

  • Epilepsies, Myoclonic

  • Epileptic Seizures - Myoclonic

  • Epileptic Seizures, Myoclonic

  • Myoclonia Epileptica

  • Myoclonic Seizure Disorder

  • Early Myoclonic Encephalopathy With Suppression-Bursts

3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
  • Megdel Syndrome

  • MEGDEL

  • Mgca6

  • 3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome

  • Megdhel

  • 3-Methylglutaconic Aciduria, Type Vi

  • Serac1 Defect

  • 3-Methylglutaconic Aciduria Type 6

  • 3-Mgca Type Iv

  • 3-Mgca-4

  • 3-Methylglutaconic Aciduria Type Vi

  • 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome

  • Megdhel Syndrome

  • 3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome

  • 3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome

  • 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome

  • 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome

Dissociated Nystagmus
Myoclonic Epilepsy Associated With Ragged-Red Fibers
  • Merrf Syndrome

  • MERRF

  • Fukuhara Syndrome

  • Myoclonic Epilepsy Associated With Ragged Red Fibers

  • Myoencephalopathy Ragged-Red Fiber Disease

  • Myoclonic Epilepsy - Ragged Red Fibers

  • Myoclonus Epilepsy And Ragged Red Fibers

  • Myoclonus With Epilepsy And With Ragged Red Fibers

  • Myoclonic Epilepsy With Ragged Red Fibers

  • Myoclonic Epilepsy With Ragged-Red Fibers

  • Fukuhara Disease

  • Myoclonus Epilepsy Associated With Ragged-Red Fibres

  • Myoclonus With Epilepsy With Ragged Red Fibers

Friedreich Ataxia
  • Friedreich Ataxia 1

  • FRDA

  • Friedreich Ataxia With Retained Reflexes

  • Frda1

  • Fa

  • Friedreich'S Ataxia

  • Hereditary Spinal Ataxia

  • Fa1

  • Friedreich'S Tabes

  • Hereditary Spinal Sclerosis

  • Spinocerebellar Ataxia, Friedreich

  • Friedreich Spinocerebellar Ataxia

  • Friedrich'S Ataxia

Leber Hereditary Optic Neuropathy, Modifier Of
  • Leber Optic Atrophy

  • Leber Hereditary Optic Neuropathy

  • LHON

  • Leber'S Hereditary Optic Neuropathy

  • Leber Optic Atrophy, Susceptibility To

  • Leber'S Optic Atrophy

  • LOAM

  • Loas

  • Leber'S Disease

  • Leber'S Optic Neuropathy

  • Optic Atrophy, Hereditary, Leber

  • Lhon, Modifier Of

  • Optic Atrophy, Leber Type

  • Hereditary Optic Neuroretinopathy

  • Leber Hereditary Optic Atrophy

  • Loa

  • Optic Atrophy Leber Type

  • Leber Hereditary Optic Neuropathy, Modifier

  • Leber Hereditary Optic Neuropathy Susceptibility

  • Modifier Of Leber Hereditary Optic Neuropathy

  • Lebers Hereditary Optic Neuropathy

  • Leber Congenital Amaurosis

3-Methylglutaconic Aciduria
  • 3-Methyl Glutaconic Aciduria

Marinesco-Sjogren Syndrome
  • Marinesco-Sjögren Syndrome

  • MSS

  • Marinesco-Garland Syndrome

  • Garland-Moorhouse Syndrome

  • Hereditary Oligophrenic Cerebello-Lental Degeneration

  • Oligophrenic Cerebellolenticular Degeneration

  • Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism

  • Marinesco-Sjogren Syndrome-Myopathy

  • Marinesco-Sjogren-Garland Syndrome

  • Marinesco-Sjoegren Syndrome

Mitochondrial Encephalomyopathy
  • Mitochondrial Encephalomyopathies

  • Encephalomyopathy, Mitochondrial

Mitochondrial Dna Depletion Syndrome 3
  • Deoxyguanosine Kinase Deficiency

  • Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

  • MTDPS3

  • Dguok Deficiency

  • Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

  • Dguok-Related Mitochondrial Dna Depletion Syndrome

  • Hepatocerebral Mitochondrial Dna Depletion Syndrome

  • Mtdna Depletion Syndrome, Hepatocerebral Form

  • Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency

  • Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive

  • Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type

  • Mitochondrial Dna Depletion Syndrome , Type 3

Infertility
Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Mitochondrial Dna Depletion Syndrome 12b
Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Combined Oxidative Phosphorylation Deficiency 33
  • COXPD33

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
  • Melas Syndrome

  • MELAS

  • Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

  • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

  • Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

  • Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Spermatogenic Failure
  • Azoospermia

  • Spgf

  • Spermatogenic Failure, Susceptibility To

  • Absent Sperm

  • Aspermatogenesis

  • Infertility Due To Azoospermia

  • Hypospermatogenesis

  • Azoospermatism

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
  • PEOA4

  • Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4

  • Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4

  • Chronic Progressive External Ophthalmoplegia

  • Progressive External Ophthalmoplegia, Autosomal Dominant 4

  • Autosomal Dominant Progressive External Ophthalmoplegia 4

  • Cpeo

  • Graefe Disease

  • Mitochondrial Ocular Myopathy

  • Ocular Myopathy Of Von Graefe-Fuchs

  • Progressive External Ophthalmoplegia Autosomal Dominant 4

  • Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4

  • Kearns-Sayre Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 8
  • Arca1

  • Autosomal Recessive Cerebellar Ataxia Type 1

  • SCAR8

  • Autosomal Recessive Spinocerebellar Ataxia 8

  • Autosomal Recessive Ataxia, Beauce Type

  • Recessive Ataxia Of Beauce

  • Syne1-Related Autosomal Recessive Cerebellar Ataxia

  • Ataxia, Recessive, Of Beauce

  • Cerebellar Ataxia, Autosomal Recessive, Type 1

  • Spinocerebellar Ataxia Autosomal Recessive 8

  • Autosomal Recessive Ataxia Beauce Type

  • Spinocerebellar Ataxia, Autosomal Recessive, 8

  • Ataxia Recessive Of Beauce

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 8

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Sensory Peripheral Neuropathy
  • Sensory Neuropathy

  • Peripheral Sensory Neuropathy

  • Hereditary Sensory And Autonomic Neuropathies

Giant Axonal Neuropathy 1, Autosomal Recessive
  • Giant Axonal Neuropathy

  • Giant Axonal Neuropathy 1

  • Gan

  • GAN1

  • Giant Axonal Neuropathy-1

  • Neuropathy, Giant Axonal

  • Giant Axonal Disease

  • Neuropathy, Axonal, Giant, Type 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

  • Berdon Syndrome

  • MMIHS

  • Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

  • Megacystis, Microcolon, Hypoperistalsis Syndrome

  • Visceral Myopathy

  • Mmih Syndrome

  • Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

  • MMIHS1

  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

  • Mmhs

Hereditary Ataxia
  • Sca

  • Spinocerebellar Ataxia

  • Ataxias Hereditary

  • Ataxias, Hereditary

Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Mitochondrial Complex Iii Deficiency, Nuclear Type 2
  • Mitochondrial Complex Iii Deficiency Nuclear Type 2

  • MC3DN2

  • Mitochondrial Complex Ii Deficiency, Nuclear Type 3

  • MC2DN3

  • Mitochondrial Complex 2 Deficiency, Nuclear Type 3

  • Mitochondrial Complex Iii Deficiency, Nuclear 2

Optic Nerve Disease
  • Optic Neuropathy

  • Disorder Of The Second Nerve

  • Optic Nerve Disorder

  • Optic Nerve

  • Abnormality Of The Optic Nerve

  • Optic Nerve Disorders

  • Neuropathy, Optic

  • Disorder Of The Optic Nerve

Muscle Tissue Disease
Myopathy With Extrapyramidal Signs
  • Proximal Myopathy With Extrapyramidal Signs

  • MPXPS

  • Myopathy, With Extrapyramidal Signs

Multiple Acyl-Coa Dehydrogenase Deficiency
  • MADD

  • Ethylmalonic-Adipicaciduria

  • Ema

  • Glutaric Acidemia Iia

  • Glutaric Acidemia Iib

  • Ga Ii

  • Glutaric Acidemia Iic

  • Glutaric Acidemia Type 2

  • Glutaric Acidemia Ii

  • Glutaric Aciduria Ii

  • Electron Transfer Flavoprotein Deficiency

  • Glutaric Aciduria Type 2

  • Mad Deficiency

  • Glutaric Acidemia Type Ii

  • Glutaric Aciduria 2

  • Etfa Deficiency

  • Etfb Deficiency

  • Etfdh Deficiency

  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency

  • Ga2

  • Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency

  • Electron Transfer Flavoprotein Dehydrogenase Deficiency

  • Ga 2

  • Glutaric Acidemia 2

  • Glutaric Acidemia, Type 2

  • Glutaric Aciduria, Type 2

  • Mad

  • Multiple Fad Dehydrogenase Deficiency

  • Ethylmalonic Adipic Aciduria

  • Glutaricaciduria Ii

  • Glutaric Aciduria 2a

  • GA2A

  • Gaiia

  • Glutaricaciduria Iia

  • Glutaric Aciduria 2b

  • GA2B

  • Gaiib

  • Glutaricaciduria Iib

  • Glutaric Aciduria 2c

  • GA2C

  • Gaiic

  • Glutaricaciduria Iic

  • Glutaricaciduria, Type Iia

  • Glutaric Acidemia Type 2a

  • Glutaric Acidemia Type 2c

  • Glutaric Aciduria Iia

  • Glutaric Aciduria Iib

  • Glutaric Aciduria Iic

Perrault Syndrome
  • Gonadal Dysgenesis, Xx Type, With Deafness

  • Ovarian Dysgenesis With Sensorineural Deafness

  • Gonadal Dysgenesis, Xx Type

  • Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

  • Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

  • Xx Gonodal Dysgenesis-Deafness Syndrome

  • Xx Gonodal Dysgenesis-Hearing Loss Syndrome

  • Gonadal Dysgenesis Xx Type Deafness

Ptosis
  • Blepharoptosis

  • Drooping Eyelid

  • Droopy Eyelid

  • Ptosis Of Eyelid

  • Paralysis Of Levator Palpebrae Superioris

Movement Disease
  • Movement Disorders

  • Movement Disorder

Muscular Disease
Choreatic Disease
  • Chorea

  • Hereditary Chorea

Migraine With Or Without Aura 1
  • Migraine

  • Migraine With Or Without Aura, Susceptibility To, 1

  • Migraine Disorder

  • Migraine Variant

  • Migraines

  • Migraine Disorders

  • Mgr1

  • Mgau

  • Ma

  • Migraine With Or Without Aura

  • Classic Migraine

  • Common Migraine

  • Disorder, Migraine

  • Headache Migraine

  • Headache Migrainous

  • Migraine Headache

  • Migraine Syndrome

  • Headache Including Migraine

  • Migraine, Susceptibility To

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Neuronal Ceroid Lipofuscinosis
  • Hereditary Ceroid Lipofuscinosis

  • Batten Disease

  • Ncl

  • Neuronal Ceroid-Lipofuscinoses

  • Lipofuscinosis, Ceroid, Neuronal

  • Juvenile Neuronal Ceroid Lipofuscinosis

  • Cerebromacular Dystrophy

  • Cerebromacular Degeneration

  • Ceroid-Lipofuscinosis

  • Ncl - [Neuronal Ceroid Lipofuscinosis]

  • Amaurotic Familial Idiocy

  • Amaurotic Idiocy

  • Amaurotic Idiot

  • Neuronal Lipofuscinosis

  • Pigmentary Retinal Lipoid Neuronal Heredodegeneration

West Syndrome
  • Infantile Spasms

  • Infantile Spasms Syndrome

  • Infantile Spasm

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Infantile Spasms

  • Epileptic Encephalopathy, Early Infantile, 1

  • Is

  • Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

  • West'S Syndrome

  • Spasms, Infantile

  • Is -[Infantile Spasm]

  • Salaam Spasm

  • Salaam Tic

Mitochondrial Complex I Deficiency, Nuclear Type 1
  • Mitochondrial Complex I Deficiency

  • Nadh:Q(1) Oxidoreductase Deficiency

  • MC1DN1

  • Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Mitochondrial Respiratory Chain Complex I Deficiency

  • Isolated Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Nadh-Coq Reductase Deficiency

  • Isolated Nadh-Ubiquinone Reductase Deficiency

  • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

  • Nuclear Type Mitochondrial Complex I Deficiency 1

  • Isolated Complex I Deficiency

  • Complex 1 Mitochondrial Respiratory Chain Deficiency

  • Nadh Coenzyme Q Reductase Deficiency

  • Complex I Mitochondrial Respiratory Chain Deficiency

  • Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

  • Nadh:Ubiquinone Oxidoreductase Deficiency

  • Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Developmental And Epileptic Encephalopathy
  • Encephalopathy, Developmental And Epileptic

Spastic Ataxia
  • Spax

  • Ataxia, Spastic

Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris POLG VGNC VGNC:44781
Felis catus POLG VGNC VGNC:68940
Bos taurus POLG VGNC VGNC:33122
Rattus norvegicus POLG RGD RGD:620057
Mus musculus POLG MGD MGI:1196389
Macaca mulatta POLG VGNC VGNC:76205
Others POLG NCBI