SDHB - succinate dehydrogenase complex iron sulfur subunit B Gene

Also Known as IP; SDH; CWS2; PGL4; SDH1; SDH2; SDHIP; MC2DN4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6390

About SDHB

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:17,018,722-17,054,032 (from NCBI)

This gene has 8 transcripts (splice variants), 282 orthologues and is associated with 68 phenotypes. Ubiquitous expression in heart (RPKM 84.5), kidney (RPKM 76.7) and 25 other tissues.

Summary

This tumor suppressor gene encodes the iron-sulfur protein subunit of the Succinate Dehydrogenase (SDH) enzyme complex which plays a critical role in mitochondria. The SDH enzyme complex is composed of four nuclear-encoded subunits. This enzyme complex converts succinate to fumarate which releases electrons as part of the citric acid cycle, and the enzyme complex additionally provides an attachment site for released electrons to be transferred to the Oxidative Phosphorylation pathway. The SDH enzyme complex plays a role in oxygen-related gene regulation through its conversion of succinate, which is an oxygen sensor that stabilizes the hypoxia-inducible factor 1 (HIF1) transcription factor. Sporadic and familial mutations in this gene result in paragangliomas, pheochromocytoma, and gastrointestinal stromal tumors, supporting a link between mitochondrial dysfunction and tumorigenesis. Mutations in this gene are also implicated in nuclear type 4 mitochondrial complex II deficiency. [provided by RefSeq, Jun 2022]

SDHB Products (2)

mRNA Protein Name
NM_001407361.1 NP_001394290.1 succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial isoform 2
NM_003000.3 NP_002991.2 succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15961414 GOA
enables succinate dehydrogenase (quinone) activity IMP
IMP: Inferred from mutant phenotype
26925370 GOA
Cellular Component GO Annotation Evidence References Source
part of respiratory chain complex II (succinate dehydrogenase) IDA
IDA: Inferred from direct assay
37098072 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

SDHB Protein Structure

Fer2_3

Fer2_3: 2Fe-2S iron-sulfur cluster binding domain (41 - 147)

Fer4_17

Fer4_17: 4Fe-4S dicluster domain (185 - 258)

  • 0
  • 100
  • 200
  • 280 a.a.
Protein Preferred Names Protein Names

succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial

  • iron-sulfur subunit of complex II

SDHB Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SDHB P21912 ISCU Homo sapiens Q9H1K1 24606901
Intra
SDHB P21912 ISCU Homo sapiens Q9H1K1 24606901
Intra
SDHB P21912 ISCU Homo sapiens Q9H1K1 26749241
Intra
SDHB P21912 SDHA Homo sapiens P31040 24606901
Intra
SDHB P21912 SDHA Homo sapiens P31040 24606901
Intra
SDHB P21912 SDHA Homo sapiens P31040 19688755
Intra
SDHB P21912 SDHA Homo sapiens P31040 26749241
Intra
SDHB P21912 SDHAF1 Homo sapiens A6NFY7 24606901
Intra
SDHB P21912 SDHAF1 Homo sapiens A6NFY7 26749241
Intra
SDHB P21912 SDHAF1 Homo sapiens A6NFY7 24606901
Intra
SDHB P21912 HSCB Homo sapiens Q8IWL3 26749241
Intra
SDHB P21912 HSCB Homo sapiens Q8IWL3 24606901
Intra
SDHB P21912 HSCB Homo sapiens Q8IWL3 24606901
Cross: Cross-species interaction Intra: Intraspecies interaction

SDHB Antibodies

Cat. No. Product Name Application Reactivity
HY-P81835 SDHB Antibody (YA1580) WB, IHC-P, IP, FC Human, Mouse, Rat
HY-P84184 SDHB Antibody (YA3881) IHC-P, FC, ELISA Human
HY-P84184A SDHB Antibody (YA3881)(PBS only) IHC-P, FC, ELISA Human
HY-P86391 SDHB Antibody (YA6083) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Paragangliomas 4
  • PGL4

  • Carotid Body Tumors And Multiple Extraadrenal Pheochromocytomas

  • Paragangliomas, Hereditary Extraadrenal

  • Pheochromocytoma, Familial Extraadrenal

  • Paraganglioma, Familial Malignant

  • Pheochromocytoma, Extraadrenal, And Cervical Paraganglioma

  • Pheochromocytoma, Extraadrenal And Cervical Paraganglioma

  • Sdhb-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

  • Familial Chromaffin Paraganglioma 4

  • Paraganglioma Familial Malignant

  • Paragangliomas Hereditary Extraadrenal

  • Pheochromocytoma Extraadrenal And Cervical Paraganglioma

  • Pheochromocytoma Familial Extraadrenal

  • Paraganglioma, Familial Chromaffin, 4

  • Paragangliomas, Type 4

Pheochromocytoma
  • Pheochromocytoma, Susceptibility To

  • Phaeochromocytoma

  • Adrenal Gland Chromaffin Paraganglioma

  • Adrenal Gland Chromaffinoma

  • Adrenal Gland Paraganglioma

  • Adrenal Gland Pheochromocytoma

  • Chromaffin Paraganglioma Of The Adrenal Gland

  • Intraadrenal Paraganglioma

  • PCC

  • Chromaffin Cell Tumor

  • Medullary Chromaffinoma

  • Medullary Paraganglioma

  • Pheochromoblastoma

  • Pheochromocytomas

  • Chromaffin Cell Neoplasm

  • Pheochromocytoma, Malignant

Paraganglioma And Gastric Stromal Sarcoma
  • Carney-Stratakis Syndrome

  • Paraganglioma And Gastrointestinal Stromal Tumor

  • Carney Dyad

  • Carney-Stratakis Dyad Of Paraganglioma And Gastric Stromal Sarcoma

  • Paraganglioma And Gist

  • Carney-Stratakis Dyad

  • Gist-Paraganglioma Dyad

  • PGGSS

  • Paraganglioma, Gastric Stromal Sarcoma

  • Gastrointestinal Stromal Tumors

Mitochondrial Complex Iv Deficiency, Nuclear Type 2
  • Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 1

  • MC4DN2

  • Cemcox1

  • Mitochondrial Complex Ii Deficiency, Nuclear Type 4

  • MC2DN4

  • Mitochondrial Complex 2 Deficiency, Nuclear Type 4

  • Cytochrome C Oxidase Deficiency, Fatal Infantile, With Cardioencephalomyopathy

  • Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency 1

  • Cytochrome C Oxidase Deficiency With Fatal Infantile Cardioencephalomyopathy

  • Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency

Gastrointestinal Stromal Tumor
  • GIST

  • Gastrointestinal Stromal Tumors

  • Gastrointestinal Stromal Sarcoma

  • Gastrointestinal Stromal Tumor, Familial

  • Gant

  • Gastrointestinal Stromal Tumour

  • Stromal Tumor Of Gastrointestinal Tract

  • Stromal Tumour Of Gastrointestinal Tract

  • Gastrointestinal Stromal Neoplasm

  • Paraganglioma And Gastric Stromal Sarcoma

  • Plexosarcoma

Paraganglioma
  • Chemodectoma

  • Glomus Body Tumor

  • Paragangliomas

  • Carotid Body Paraganglioma

  • Extra-Adrenal Paraganglioma

Hereditary Paraganglioma-Pheochromocytoma Syndromes
  • Hereditary Pheochromocytoma-Paraganglioma

  • Hereditary Paraganglioma-Pheochromocytoma

  • Familial Pheochromocytoma-Paraganglioma

  • Paragangliomas 2

  • Paragangliomas 3

  • Paragangliomas 4

  • Sdhx-Related Paraganglioma-Pheochromocytoma

  • Familial Paraganglioma Syndrome

  • Familial Paraganglioma-Pheochromocytoma Syndromes

  • Fpgl

  • Fpgl/Pheo

  • Paragangliomas 1

  • Paraganglioma

Cowden Syndrome
  • Cowden Disease

  • Multiple Hamartoma Syndrome

  • Cowden'S Disease

  • Lhermitte-Duclos Disease

  • Cd

  • Cs

  • Mham

  • Dysplastic Gangliocytoma Of Cerebellum

  • Cowden'S Syndrome

  • Hamartoma Syndrome, Multiple

Paragangliomas 1
  • Carotid Body Tumor

  • Paragangliomata

  • Pgl

  • Chemodectomas

  • Carotid Body Tumors

  • Glomus Jugulare Tumors

  • Carotid Body Paraganglioma

  • PGL1

  • Cbt1

  • Glomus Tumor

  • Glomus Tumors Familial 1

  • Paragangliomas Familial 1

  • Glomus Jugulare Tumor

  • Paragangliomas, Familial, 1

  • Glomus Tumors, Familial, 1

  • Paraganglioma, Carotid Body

  • Paragangliomas, Familial Nonchromaffin, 1

  • Paragangliomas 1, With Or Without Deafness

  • Cbt

  • Paraganglioma - Glomus Jugulare

  • Pgl 1

  • Sdhd-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

  • Chemodectoma

  • Familial Non-Chromaffin Paragangliomas 1

  • Familial Paragangliomas Non-Chromaffin 1 With Or Without Deafness

  • Paraganglioma Carotid Body

  • Paragangliomas, Type 1

  • Paraganglioma

  • Extra-Adrenal Paraganglioma

  • Glomus Tympanicum Tumor

Cowden Syndrome 1
  • Bannayan-Riley-Ruvalcaba Syndrome

  • Pten Hamartoma Tumor Syndrome

  • Lhermitte-Duclos Disease

  • Bannayan-Zonana Syndrome

  • Phts

  • Riley-Smith Syndrome

  • Bzs

  • Ruvalcaba-Myhre-Smith Syndrome

  • Multiple Hamartoma Syndrome

  • Rmss

  • Brrs

  • Dysplastic Gangliocytoma Of The Cerebellum

  • CWS1

  • Cs

  • Cd

  • Mham

  • Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

  • Macrocephaly Multiple Lipomas And Hemangiomata

  • Bannayan-Ruvalcaba-Riley Syndrome

  • Myhre-Riley-Smith Syndrome

  • LDD

  • Cerebelloparenchymal Disorder Vi

  • Hamartoma Syndrome, Multiple

  • Bbrs

  • Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

  • Macrocephaly, Multiple Lipomas, And Hemangiomata

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomas

  • Ruvalcaba -Myhre-Smith Syndrome

  • Ruvalcaba-Myhre Syndrome

  • Cowden Disease

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomata

  • Cerebellar Granule Cell Hypertrophy And Megalencephaly

  • Cpd6

  • Pten Hamartoma Tumor Syndromes

  • Cowden Syndrome, Type 1

Mitochondrial Complex Ii Deficiency
  • Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency

  • Isolated Succinate-Coenzyme Q Reductase Deficiency

  • Isolated Succinate-Coq Reductase Deficiency

  • Isolated Succinate-Ubiquinone Reductase Deficiency

  • Mitochondrial Respiratory Chain Complex Ii Deficiency

  • Complex 2 Mitochondrial Respiratory Chain Deficiency

  • Succinate Coq Reductase Deficiency

  • Succinate Dehydrogenase Deficiency

  • Isolated Succinate Dehydrogenase Deficiency

  • Succinate-Coenzyme Q Reductase Deficiency

Inherited Cancer-Predisposing Syndrome
  • Hereditary Cancer-Predisposing Syndrome

Bap1 Tumor Predisposition Syndrome
  • Bap1-Related Tumor Predisposition Syndrome

  • Common Syndrome

  • Bap1 Cancer Syndrome

  • Bap1-Tpds

  • Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

  • Tumor Predisposition Syndrome

  • Tumor Susceptibility Linked To Germline Bap1 Mutations

  • Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

  • Tumor Predisposition

Carney Triad
  • Gastric Leiomyosarcoma, Pulmonary Chondroma, And Extraadrenal Paraganglioma

Neurofibromatosis
  • Neurofibromatoses

  • Acoustic Neurofibromatosis

  • Central Neurofibromatosis

  • Peripheral Neurofibromatosis

  • Recklinghausen'S Neurofibromatosis

  • Von Reklinghausen Disease

  • Neurofibromatosis Type 1

Sporadic Pheochromocytoma/Secreting Paraganglioma
Multiple Endocrine Neoplasia
  • Men

  • Multiple Endocrine Adenomatosis

  • Multiple Endocrine Neoplasia Syndrome

  • Adenomatosis, Familial Endocrine

  • Endocrine Neoplasia, Multiple

  • Familial Endocrine Adenomatosis

  • Mea

  • Multiple Endocrine Neoplasms

  • Multiple Endocrine Neoplasia Type 1

Von Hippel-Lindau Syndrome
  • Von Hippel-Lindau Disease

  • Vhl

  • Vhl Syndrome

  • VHLS

  • Von Hippel-Lindau Syndrome, Modifier Of

  • Hippel Lindau Syndrome

  • Angiomatosis Retinae

  • Cerebelloretinal Angiomatosis, Familial

  • Hippel-Lindau Disease

  • Familial Cerebelloretinal Angiomatosis

  • Lindau Disease

  • VHLD

Nonsyndromic Paraganglioma
  • Chemodectoma

  • Carotid Body Paraganglioma

  • Extra-Adrenal Paraganglioma

Chondroma
  • Central Chondroma

  • Enchondroma

Glomus Tumor
  • Glomus Neoplasm

  • Glomus Tumour

Persistent Generalized Lymphadenopathy
  • Pgl

  • Persistant Generalized Lymphadenopathy

Hereditary Leiomyomatosis And Renal Cell Cancer
  • HLRCC

  • Lrcc

  • Mcl

  • Multiple Cutaneous And Uterine Leiomyomata

  • Leiomyomatosis And Renal Cell Cancer

  • Mcul

  • Mcul1

  • Familial Leiomyomatosis And Renal Cell Cancer

  • Familial Leiomyomatosis Cutis Et Uteri

  • Familial Leiomyomatosis With Renal Carcinoma

  • Familial Multiple Cutaneous Leiomyomas

  • Reed'S Syndrome

  • Multiple Cutaneous And Uterine Leiomyomata 1, With Or Without Renal Cell Carcinoma

  • Leiomyomatosis And Renal Cell Cancer, Hereditary

  • Leiomyoma, Multiple Cutaneous

  • Multiple Cutaneous Leiomyomata

  • Hereditary Leiomyomatosis And Renal Cell Carcinoma

  • Multiple Cutaneous Leiomyoma

  • Hereditary Leiomyomatosis

  • Hereditary Leiomyomatosis With Renal Carcinoma

  • Hereditary Multiple Cutaneous Leiomyomas

  • Multiple Cutaneous And Uterine Leiomyomas

  • Reed Syndrome

  • Leiomyoma Multiple Cutaneous

  • Leiomyomatosis And Renal Cell Cancer Hereditary

  • Multiple Cutaneous And Uterine Leiomyomata 1 With Or Without Renal Cell Carcinoma

Neurofibromatosis, Type I
  • Von Recklinghausen Disease

  • Neurofibromatosis 1

  • Neurofibromatosis, Type 1

  • NF1

  • Neurofibromatosis, Peripheral Type

  • Neurofibromatosis Type I

  • Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion

  • Familial Spinal Neurofibromatosis

  • Fsnf

  • Peripheral Neurofibromatosis

  • Von Recklinghausen'S Neurofibromatosis

  • Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion

  • Neurofibromatosis Peripheral Type

  • Von Recklinghausen Syndrome

  • Neurofibromatosis Type 1

  • Von Recklinghausen Neuropathy

  • Nf1 - [Neurofibromatosis Type 1]

  • Recklinghausen Disease

Malignant Pheochromocytoma
  • Pheochromocytoma, Malignant

Adrenal Medulla Cancer
  • Adrenal Medulla Neoplasm

  • Adrenal Medulla Tumor

  • Malignant Neoplasm Of Adrenal Medulla

  • Malignant Tumor Of The Adrenal Medulla

  • Adrenal Medulla Carcinoma

  • Neoplasm Of Adrenal Medulla

Extra-Adrenal Pheochromocytoma
  • Pheochromocytoma, Extra-Adrenal

Multiple Endocrine Neoplasia, Type Iia
  • Multiple Endocrine Neoplasia Type 2a

  • Sipple Syndrome

  • Multiple Endocrine Neoplasia Type 2

  • MEN2A

  • Men2

  • Ptc Syndrome

  • Multiple Endocrine Neoplasia, Type 2

  • Multiple Endocrine Neoplasia Iia

  • Men 2a

  • Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma

  • Multiple Endocrine Neoplasia, Type 2a

  • Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma

  • Multiple Endocrine Neoplasia Ii

  • Men2 Syndrome

  • Men-2a Syndrome

  • Multiple Neoplasia 2a

  • Multiple Neoplasia Type 2

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

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

Neural Crest Tumor
  • Neural Crest-Derived Tumors

Leiomyomatosis
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

Lymph Node Disease
  • Abnormality Of The Lymph Nodes

  • Disorder Of Lymph Node

Endocrine Organ Benign Neoplasm
Gastric Leiomyosarcoma
  • Leiomyosarcoma Of Stomach

Mitochondrial Myopathy
  • Mitochondrial Myopathies

  • Mitochondrial Cytopathy

  • Myopathies In Mitochondrial Disorders

Multiple Endocrine Neoplasia, Type I
  • Multiple Endocrine Neoplasia Type 1

  • MEN1

  • Wermer Syndrome

  • Multiple Endocrine Neoplasia 1

  • Multiple Endocrine Neoplasia, Type 1

  • Men I

  • Endocrine Adenomatosis, Multiple

  • Mea I

  • Men Type I

  • Wermer'S Syndrome

  • Men1 Syndrome

  • Multiple Endocrine Adenomatosis

  • Endocrine Adenomatosis Multiple

  • Men 1

  • Familial Multiple Endocrine Neoplasia Type I

  • Neoplasia, Endocrine, Multiple, Type 1

  • Multiple Endocrine Neoplasia

Kidney Cancer
  • Renal Cancer

  • Renal Carcinoma

  • Kidney Neoplasm

  • Malignant Neoplasm Of Kidney Except Pelvis

  • Malignant Tumour Of Kidney

  • Kidney Neoplasms

  • Cancer, Kidney

  • Cancer, Renal

  • Malignant Neoplasm Of Kidney

  • Renal Cell Carcinoma

Myoglobinuria
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

Carotid Body Cancer
  • Cancer Of Carotid Body

  • Malignant Carotid Body Paraganglioma

  • Malignant Carotid Body Tumor

  • Malignant Neoplasm Of Carotid Body

Adrenal Carcinoma
  • Adrenal Cancer

  • Adrenal Gland Cancer

  • Malignant Neoplasm Of Adrenal Gland

  • Adrenal Gland Neoplasms

  • Carcinoma Of The Adrenal Gland

  • Adrenal Neoplasm

  • Malignant Adrenal Tumor

  • Neoplasm Of Adrenal Gland

  • Tumor Of The Adrenal Gland

  • Adrenal Gland Neoplasm

  • Adrenocortical Carcinoma

  • Adrenal Gland Malignancy

  • Suprarenal Cancer

  • Malignant Neoplasm Of Suprarenal Gland

  • Malignant Neoplasm Of Adrenal Gland, Unspecified

  • Malignant Tumour Of Adrenal Gland

  • Suprarenal Gland Cancer

  • Primary Malignant Neoplasm Of Adrenal Gland

Hereditary Renal Cell Carcinoma
Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Neurohypophysis Granular Cell Tumor
  • Granular Cell Tumor Of The Neurohypophysis

Spastic Quadriplegia
  • Spastic Quadriplegic Cerebral Palsy

  • Quadriplegic Infantile Cerebral Palsy

  • Tetraplegic Infantile Cerebral Palsy

  • Cerebral Palsy Spastic Quadriplegic

  • Quadriplegic Cerebral Palsy

  • Spastic Quadriplegia Cerebral Palsy

  • Spastic Tetraplegia Cerebral Palsy

  • Cerebral Palsy, Quadriplegic, Infantile

  • Cerebral Palsy With Spastic Tetraplegia

  • Congenital Spastic Quadriplegia

  • Spastic Tetraplegic Cerebral Palsy

  • Congenital Quadriplegia Nos

  • Tetraplegic Cerebral Palsy

Renal Oncocytoma
  • Oncocytoma, Renal

  • Oncocytoma Of Kidney

  • Renal Epithelial Oncocytic Tumor

  • Oncocytoma Kidney

  • Oncocytoma Renal

  • Kidney Oncocytoma

Disseminated Chorioretinitis
Cowden Syndrome 4
  • CWS4

  • Cowden Syndrome, Type 4

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

Multiple Endocrine Neoplasia, Type Iib
  • Multiple Endocrine Neoplasia Type 2b

  • MEN2B

  • Wagenmann-Froboese Syndrome

  • Multiple Endocrine Neoplasia Iib

  • Mucosal Neuroma Syndrome

  • Multiple Endocrine Neoplasia, Type 3

  • Multiple Endocrine Neoplasia, Type 2b

  • Men Iib

  • Neuromata, Mucosal, With Endocrine Tumors

  • Multiple Endocrine Neoplasia, Type Iii, Formerly

  • Men3, Formerly

  • Men Type Iib

  • Men 2b

  • Multiple Endocrine Neoplasia Type 3

  • Multiple Neoplasia 2b

  • Neoplasia, Endocrine, Multiple, Type Iib

Peripheral Nervous System Benign Neoplasm
Autonomic Nervous System Benign Neoplasm
Cerebral Angioma
  • Hemangioma Of Cerebrum

  • Cerebral Hemangioma

Renal Cell Carcinoma, Nonpapillary
  • Renal Cell Carcinoma

  • RCC

  • Nonpapillary Renal Cell Carcinoma

  • Clear Cell Renal Cell Carcinoma

  • Hypernephroma

  • Adenocarcinoma Of Kidney

  • Renal Carcinoma, Chromophobe, Somatic

  • Clear Cell Carcinoma Of Kidney

  • Clear-Cell Metastatic Renal Cell Carcinoma

  • Clear Cell Renal Carcinoma

  • Renal Cell Carcinoma, Somatic

  • Conventional Renal Cell Carcinoma

  • Conventional Renal Cell Carcinoma

  • Renal Clear Cell Carcinoma

  • Ccrcc

  • Hereditary Clear Cell Renal Cell Carcinoma

  • Carcinoma, Renal Cell

  • Renal Cell Carcinoma, Clear Cell, Somatic

  • Renal Cell Carcinoma, Clear Cell

  • Clear Cell Kidney Carcinoma

  • Clear Cell Rcc

  • Cystic-Multilocular Variant

  • Clear Cell Renal Cell Adenocarcinoma

  • Hereditary Clear Cell Renal Cell Adenocarcinoma

  • Common Renal Cell Carcinoma

  • Crcc

  • Renal Cell Carcinoma Non-Papillary

  • Carcinoma Renal Cell

  • Renal Cell Cancer

  • Carcinoma, Renal Cell, Nonpapillary

Leiomyoma Cutis
  • Cutaneous Leiomyoma

  • Leiomyoma Of The Skin

Dermis Tumor
  • Dermis Tumour

  • Neoplasm Of Dermis

  • Tumor Of Dermis

  • Tumour Of Dermis

Quadriplegia
  • Tetraplegia

  • Tetraplegias

Horner'S Syndrome
  • Horner Syndrome

  • Bernard-Horner Syndrome

  • Oculosympathetic Palsy

  • Bernard Horner Syndrome

  • Cervical Sympathetic Paralysis

  • Von Passow Syndrome

  • Cervical Sympathetic Dystrophy

Cardiovascular Organ Benign Neoplasm
Birt-Hogg-Dube Syndrome
  • Hornstein-Knickenberg Syndrome

  • Fibrofolliculomas With Trichodiscomas And Acrochordons

  • BHD

  • Birt-Hogg-Dubé Syndrome

  • Multiple Fibrofolliculoma Familial

  • Bhd Syndrome

  • Birt Hogg Dube Syndrome

  • Hornstein-Birt-Hogg-Dubé Syndrome

  • Multiple Fibrofolliculomas

Familial Renal Papillary Carcinoma
  • Hereditary Papillary Renal Carcinoma

  • Papillary Renal Cancer Hereditary

Fumarase Deficiency
  • Fumaric Aciduria

  • FMRD

  • Fumarate Hydratase Deficiency

  • Deficiency, Fumarase

Thyroid Gland Cancer
  • Thyroid Gland Carcinoma

  • Malignant Neoplasm Of Thyroid Gland

  • Malignant Tumour Of Thyroid Gland

  • Thyroid Neoplasm

  • Thyroid Neoplasms

  • Neoplasm Of Thyroid Gland

  • Thyroid Gland Neoplasm

  • Head And Neck Cancer, Thyroid

  • Neoplasm Of The Thyroid Gland

  • Cancer Of The Thyroid

  • Primary Malignant Neoplasm Of Thyroglossal Duct

  • Malignant Neoplasm Of Thyroglossal Duct

  • Primary Malignant Neoplasm Of Thyroid Gland

  • Thyroglossal Duct Cancer

  • Toxic Goitre Malignant Tumour

  • Cancerous Goitre

Myopathy
  • Muscular Diseases

  • Myopathies

Kidney Benign Neoplasm
  • Renal And Ureteral Tumor

  • Benign Kidney Neoplasm

Cranial Nerve Palsy
  • Cranial Nerve Paralysis

  • Cranial Nerve Diseases

  • Cranial Nerve Palsies

46,Xy Sex Reversal 9
  • SRXY9

  • 46,Xy Sex Reversal, Zfpm2-Related

  • 46xy Sex Reversal 9

Ciliary Dyskinesia, Primary, 30
  • Primary Ciliary Dyskinesia 30

  • CILD30

  • Ciliary Dyskinesia, Primary, 30, With Or Without Situs Inversus

  • Primary Ciliary Dyskinesia 30 Without Situs Inversus

  • Primary Ciliary Dyskinesia 30 With Or Without Situs Inversus

  • Dyskinesia, Ciliary, Primary, Type 30

Cleft Palate, Cardiac Defects, And Mental Retardation
  • Cardiac Malformation, Cleft Lip/Palate, Microcephaly, And Digital Anomalies

  • CPCMR

  • Cleft Palate, Cardiac Defects, And Intellectual Disabillity

  • Cleft Palate, Cardiac Defects, And Intellectual Disability

  • Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies

Lactic Acidosis
  • Acidosis, Lactic

  • Acidosis Lactic

Spastic Paraplegia 38, Autosomal Dominant
  • SPG38

  • Hereditary Spastic Paraplegia 38

  • Autosomal Dominant Spastic Paraplegia Type 38

  • Autosomal Dominant Spastic Paraplegia 38

Carney Complex Variant
  • Carney Complex

  • Carney Syndrome

  • Carney Complex, Type 1

  • Lamb Syndrome

  • Name Syndrome

  • Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome

  • Carney Complex - Trismus - Pseudocamptodactyly Syndrome

  • Carney Complex, Type 2

  • Car

  • Cnc1

  • Carney Myxoma-Endocrine Complex

  • Myxoma - Spotty Pigmentation - Endocrine Overactivity

  • Myxoma, Spotty Pigmentation, And Endocrine Overactivity

  • Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome

  • Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome

  • Carney Complex-Trismus-Pseudocamptodactyly Syndrome

  • CACOV

Gastric Liposarcoma
  • Liposarcoma Of The Stomach

Neuroblastoma
  • Nb

  • Neuroblastoma, Susceptibility To

  • Neuroblastomas

  • Central Neuroblastoma

Scoliosis
Renal Cell Carcinoma, Papillary, 1
  • Papillary Renal Cell Carcinoma

  • Hereditary Papillary Renal Cell Carcinoma

  • Papillary Renal Cell Carcinoma, Sporadic

  • Papillary Renal Cell Adenocarcinoma

  • RCCP

  • RCCP1

  • Renal Cell Carcinoma, Papillary

  • Renal Cell Carcinoma, Papillary, 1, Familial And Somatic

  • Chromophil Carcinoma Of Kidney

  • Papillary Kidney Carcinoma

  • Sporadic Papillary Renal Cell Carcinoma

  • Chromophil Renal Cell Carcinoma

  • Papillary Renal Carcinoma, Malignant -

  • Papillary Renal Cell Carcinoma, Bilateral -

  • Papillary Renal Cell Carcinoma, Familial -

  • Papillary Renal Cell Carcinoma, Multiple -

  • Papillary Renal Cell Carcinoma, Sporadic -

  • Renal Adenocarcinoma

  • Chromophil Rcc

  • Hprcc

  • Renal Cell Carcinoma Papillary

  • Chromophilic Renal Cell Carcinoma

  • Prcc

  • Carcinoma, Renal Cell, Papillary, Type 1

  • Type 1 Papillary Renal Cell Carcinoma

  • Renal Cell Carcinoma

  • Hereditary Papillary Renal Carcinoma

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

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 SDHB VGNC VGNC:45951
Mus musculus SDHB MGD MGI:1914930
Felis catus SDHB VGNC VGNC:80353
Bos taurus SDHB VGNC VGNC:34391
Rattus norvegicus SDHB RGD RGD:1308598
Macaca mulatta SDHB VGNC VGNC:77001
Others SDHB NCBI