SMN1 - survival of motor neuron 1, telomeric Gene

Homo sapiens

Also known as SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; GEMIN1; TDRD16A; T-BCD541

Gene ID: 6606 | Gene type: protein coding

About SMN1

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:70,924,941-70,966,375 (from NCBI)

This gene has 11 transcripts (splice variants), 1 gene allele, 225 orthologues, 2 paralogues and is associated with 8 phenotypes. Ubiquitous expression in bone marrow (RPKM 24.8), testis (RPKM 21.9) and 25 other tissues.

Summary

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]

SMN1 Products(3)

mRNA	Protein	Name
NM_000344.4	NP_000335.1	survival motor neuron protein isoform d
NM_001297715.1	NP_001284644.1	survival motor neuron protein isoform a
NM_022874.2	NP_075012.1	survival motor neuron protein isoform b

SMN1 Protein Structure

SMN

0
100
200
262 a.a.

Protein Preferred Names

Protein Names

survival motor neuron protein

component of gems 1

Related Diseases

Diseases

Alias

Spinal Muscular Atrophy, Type I

Werdnig-Hoffmann Disease	SMA1
Spinal Muscular Atrophy 1	Sma I
Sma, Infantile Acute Form	Muscular Atrophy, Infantile
Spinal Muscular Atrophy-1	Hmn Proximal Type I
Infantile Muscular Atrophy	Proximal Spinal Muscular Atrophy Type 1
Sma Type 1	Sma Type I
Sma-I	Hereditary Motor Neuropathy Proximal Type I
Progressive Muscular Atrophy Of Infancy	Proximal Spinal Muscular Atrophy, Type 1
Werdnig Hoffmann Disease	Infantile Spinal Muscular Atrophy
Infantile-Onset Spinal Muscular Atrophy	Proximal Hereditary Motor Neuropathy Type I
Sma Infantile Acute Form	Spinal Muscular Atrophy Type I
Werdnig-Hoffman Disease	Atrophy, Muscular, Spinal, Type 1

Spinal Muscular Atrophy, Type Iii

SMA3	Juvenile Spinal Muscular Atrophy
Kugelberg-Welander Disease	Sma Iii
Kugelberg-Welander Syndrome	Kws
Muscular Atrophy, Juvenile	Spinal Muscular Atrophy, Mild Childhood And Adolescent Form
Spinal Muscular Atrophy-3	Spinal Muscular Atrophy Type 3
Spinal Muscular Atrophy, Type Iii, Modifier Of	Type Iii Spinal Muscular Atrophy
Sma 3	Proximal Spinal Muscular Atrophy Type 3
Sma Type 3	Sma Type Iii
Sma-Iii	Spinal Muscular Atrophy 3
Spinal Muscular Atrophy Mild Childhood And Adolescent Form	Spinal Muscular Atrophy Type Iii
Wohlfart-Kugelberg-Welander Disease	Atrophy, Muscular, Spinal, Type Iii

Spinal Muscular Atrophy, Type Ii

SMA2	Sma Ii
Muscular Atrophy, Spinal, Intermediate Type	Muscular Atrophy, Spinal, Infantile Chronic Form
Intermediate Spinal Muscular Atrophy	Spinal Muscular Atrophy Type Ii
Spinal Muscular Atrophy-2	Spinal Muscular Atrophy 2
Spinal Muscular Atrophy Type 2	Dubowitz Disease
Proximal Spinal Muscular Atrophy Type 2	Sma Type 2
Sma Type Ii	Sma-Ii
Spinal Muscular Atrophy Infantile Chronic Form	Spinal Muscular Atrophy Intermediate Type
Spinal Muscular Atrophies Of Childhood	Atrophy, Muscular, Spinal, Type Ii
Muscular Atrophy, Spinal, Type Ii

Spinal Muscular Atrophy, Type Iv

SMA4	Spinal Muscular Atrophy, Adult Form
Spinal Muscular Atrophy 4	Spinal Muscular Atrophy-4
Adult Spinal Muscular Atrophy	Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive
Proximal Spinal Muscular Atrophy Type 4	Sma Type 4
Sma Type Iv	Sma-Iv
Sma Iv	Spinal Muscular Atrophy Adult Form
Spinal Muscular Atrophy Proximal Adult Autosomal Recessive	Spinal Muscular Atrophy Type Iv
Atrophy, Muscular, Spinal, Type Iv	Myelopathic Muscular Atrophy

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Spinal Disease

Spinal Disorder

Spinal Diseases

Progressive Muscular Atrophy

Progressive Spinal Muscular Atrophy	Pure Progressive Muscular Atrophy
Pma	Hereditary Spinal Muscle Atrophy
Pma - [Progressive Muscular Atrophy]	Progressive Muscle Atrophy
Progressive Spinal Muscle Atrophy	Duchenne-Aran Atrophy
Duchenne-Aran Muscle Atrophy	Hereditary Sma - [Spinal Muscle Atrophy]

Anterior Horn Cell Disease

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

Childhood Spinal Muscular Atrophy

Spinal Muscular Atrophies Of Childhood

Survival Motor Neuron Spinal Muscular Atrophy

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Gm2 Gangliosidosis

Gangliosidosis Gm2

Gangliosidoses, Gm2

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Smard1	DSMA1
Sianrf	Dhmn6
Spinal Muscular Atrophy With Respiratory Distress 1	HMN6
Severe Infantile Axonal Neuropathy With Respiratory Failure	Autosomal Recessive Distal Spinal Muscular Atrophy 1
Diaphragmatic Spinal Muscular Atrophy	Spinal Muscular Atrophy With Respiratory Distress Type 1
Neuronopathy, Distal Hereditary Motor, Type Vi	Hmn Vi
Neuronopathy, Severe Infantile Axonal, With Respiratory Failure	Distal Spinal Muscular Atrophy 1
Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress	Distal Hereditary Motor Neuropathy Type 6
Distal-Hmn Type 6	Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1
Spinal Muscular Atrophy, Diaphragmatic	Distal Hereditary Motor Neuronopathy Type Vi
Distal Spinal Muscular Atrophy Type 1	Hmnvi
Spinal Muscular Atrophy With Respiratory Distress	Autosomal Recessive Distal Spinal Muscular Atrophy Type 1
Neuronopathy, Distal Hereditary Motor, 6	Dhmn Vi
Distal Hereditary Motor Neuropathy Type Vi	Severe Infantile Axonal Neuronopathy With Respiratory Failure
Spinal Muscular Atrophy Distal Autosomal Recessive 1	Atrophy, Muscular, Spinal, Distal, Type 1

Spinal Muscular Atrophy Type 0

Very Severe Spinal Muscular Atrophy

Autosomal Recessive Distal Hereditary Motor Neuronopathy

Autosomal Recessive Distal Spinal Muscular Atrophy

Ceroid Lipofuscinosis, Neuronal, 7

CLN7	Neuronal Ceroid Lipofuscinosis 7
Cln7 Disease	Cln7 Disease, Late Infantile
Mfsd8-Related Neuronal Ceroid Lipofuscinosis	Turkish Variant Late Infantile Ncl
Lipofuscinosis, Ceroid, Neuronal, Type 7

Muscle Tissue Disease

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Spinal Muscular Atrophy, X-Linked 2

SMAX2	Arthrogryposis Multiplex Congenita, Distal, X-Linked
Infantile-Onset X-Linked Spinal Muscular Atrophy	Xlsma
Amcx1	Spinal Muscular Atrophy, X-Linked Lethal Infantile
Spinal Muscular Atrophy, Infantile X-Linked	Amc, Distal, X-Linked
Spinal Muscular Atrophy, X-Linked 2, Infantile	X-Linked Spinal Muscular Atrophy 2
Spinal Muscular Atrophy With Arthrogryposis	X-Linked Distal Arthrogryposis Multiplex Congenita
X-Linked Spinal Muscular Atrophy Type 2	Xl-Sma
Arthrogryposis, X-Linked, Type I	Spinal Muscular Atrophy, X-Linked Infantile
X-Linked Infantile Spinal Muscular Atrophy	Arthrogryposis, X-Lined, Type I
Distal X-Linked Amc	Infantile X-Linked Sma
X-Linked Arthrogryposis Multiplex Congenita	X-Linked Arthrogryposis Type I
X-Linked Lethal Infantile Sma	Arthrogryposis Spinal Muscular Atrophy
Spinal Muscular Atrophy X-Linked 2	Amc Distal X-Linked
Arthrogryposis Multiplex Congenita Distal X-Linked	Arthrogryposis X-Linked Type I
Spinal Muscular Atrophy Infantile X-Linked	Spinal Muscular Atrophy X-Linked Lethal Infantile
Atrophy, Muscular, Spinal, X-Linked, Type 2, Infantile

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy

Jankovic-Rivera Syndrome	SMAPME
Sma-Pme	Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome	Hereditary Myoclonus With Progressive Distal Muscular Atrophy
Jankovic Rivera Syndrome	Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy
Myoclonus Hereditary Progressive Distal Muscular Atrophy	Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy

Dubowitz Syndrome

Dubowitz'S Syndrome	Dwarfism-Eczema-Peculiar Facies Syndrome
Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci

Muscular Disease

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Neuropathy, Hereditary Sensory And Autonomic, Type Iii

Familial Dysautonomia	Riley-Day Syndrome
Dysautonomia, Familial	HSAN3
Hsan Iii	Fd
Hereditary Sensory And Autonomic Neuropathy Type Iii	Dys
Hereditary Sensory And Autonomic Neuropathy 3	Riley Day Syndrome
Familial Autonomic Nervous Dysfunction	Hereditary Sensory Autonomic Neuropathy Type Iii
Hsan 3	Hsn 3
Hereditary Sensory Neuropathy Type 3	Hsan Type Iii
Hsn-Iii	Hereditary Sensory And Autonomic Neuropathy Type 3
Neuropathy, Hereditary Sensory And Autonomic, 3	Hsn Iii
Dysautonomia Familial	Neuropathy, Sensory And Autonomic, Hereditary, Type Iii
Hsan3 - [Hereditary Sensory And Autonomic Neuropathy Type 3]

Neuronopathy, Distal Hereditary Motor, Type Va

Dsmav	Distal Hereditary Motor Neuropathy Type V
Young Adult-Onset Distal Hereditary Motor Neuropathy	Neuronopathy, Distal Hereditary Motor, Type V
Distal Hereditary Motor Neuronopathy Type 5	Dhmn5
Distal Spinal Muscular Atrophy Type 5	HMN5A
Hmn5	Dhmn5a
Dhmn Va	Dsmava
Spinal Muscular Atrophy, Distal, With Upper Limb Predominance	Distal Hmn V
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5	Dsma5
Young Adult-Onset Dhmn	Dhmn-V
Hmn V	Neuronopathy, Distal Hereditary Motor, Type 5a
Hmn 5a	Neuropathy, Distal Hereditary Motor, Type Va
Spinal Muscular Atrophy, Distal, Type Va	Spinal Muscular Atrophy, Distal, Type V
Distal Spinal Muscular Atrophy Type V	Distal Spinal Muscular Atrophy With Upper Limb Predominance
Distal Hereditary Motor Neuronopathy Type 5a	Distal Hmn Va
Distal Spinal Muscular Atrophy Type Va	Distal Hereditary Motor Neuropathy, Type V
Distal Hereditary Motor Neuronopathy, Type V	Distal Spinal Muscular Atrophy, Type V
Spinal Muscular Atrophy, Distal Type V	Distal Hereditary Motor Neuropathy Type 5
Neuronopathy, Distal Hereditary Motor, 5a	Dhmn V
Distal Hereditary Motor Neuronopathy Type Va	Distal Hereditary Motor Neuropathy Type Va
Dsma-V	Hmn Va
Spinal Muscular Atrophy Distal Type V	Spinal Muscular Atrophy Distal Type Va
Spinal Muscular Atrophy Distal With Upper Limb Predominance	Neuropathy, Distal Hereditary Motor, Type V
Neuropathy, Motor, Distal, Hereditary, Type Va

46,Xy Sex Reversal 1

SRXY1	46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Sex Reversal, Sry-Related	Swyer Syndrome
46xy Sex Reversal 1	46,Xy Gonadal Dysgenesis Complete Sry-Related
46,Xy Sex Reversal Sry-Related	46,Xy True Hermaphroditism Sry-Related
Gonadal Dysgenesis Xy Female Type	Xy Females
46,Xy True Hermaphroditism, Sry-Related	Gonadal Dysgenesis, 46,Xy
46, Xy Female

Spinal And Bulbar Muscular Atrophy, X-Linked 1

Kennedy Disease	Sbma
Spinal And Bulbar Muscular Atrophy	Kennedy'S Disease
X-Linked Spinal And Bulbar Muscular Atrophy	SMAX1
Kd	Kennedy Spinal And Bulbar Muscular Atrophy
Spinobulbar Muscular Atrophy	Bulbospinal Muscular Atrophy, X-Linked
Bulbospinal Neuronopathy, X-Linked Recessive	Xbsn
Spinal And Bulbar Muscular Atrophy Of Kennedy	Bulbospinal Muscular Atrophy
X-Linked Bulbospinal Amyotrophy	Bulbo-Spinal Atrophy, X-Linked
Spinal Bulbar Muscular Atrophy	X-Linked Bulbo-Spinal Atrophy
X-Linked Spinal Bulbar Muscular Atrophy	X-Linked Bsma
X-Linked Bulbospinal Muscular Atrophy	Spinal And Bulbar Muscular Atrophy X-Linked 1
Bulbospinal Muscular Atrophy X-Linked	Bulbospinal Neuronopathy X-Linked Recessive
Kennedy Disease)	Kennedy Syndrome
Atrophy, Muscular, Spinal And Bulbar, Kennedy Type	Atrophy, Muscular, Spinobulbar
Bulbospinal Neuronopathy

Myotonic Dystrophy 1

Myotonic Dystrophy	Dystrophia Myotonica
Steinert Disease	Myotonic Dystrophy Type 1
Myotonia Atrophica	DM1
Congenital Myotonic Dystrophy	Myotonia Dystrophica
Steinert Myotonic Dystrophy	Dystrophia Myotonica 1
Dm	Steinert'S Disease
Steinert Myotonic Dystrophy Syndrome	Myotonic Dystrophy Of Steinert
Dystrophia Myotonica Type 1	Myotonic Dystrophy Congenital
Dystrophy, Myotonic, Type 1	Dm - [Dystrophia Myotonica]
Myotonic Muscular Dystrophy

Cardiomyopathy, Dilated, 2a

Dilated Cardiomyopathy 2a	CMD2A
Cardiomyopathy, Dilated, Autosomal Recessive	Cardiomyopathy, Congestive, Autosomal Recessive
Cardiomyopathy, Dilated 2a	Cardiomyopathy, Dilated, Type 2a
Autosomal Recessive Dilated Cardiomyopathy

Cytomegalovirus Retinitis

Cmv Retinitis

Cardiomyopathy, Dilated, 1ff

Dilated Cardiomyopathy 1ff	CMD1FF
Cardiomyopathy, Dilated 1ff	Cardiomyopathy, Dilated, Type 1ff

Amyloidosis, Hereditary, Transthyretin-Related

Transthyretin Amyloidosis	Familial Amyloid Polyneuropathy
Ttr Amyloid Neuropathy	Transthyretin Amyloid Neuropathy
Transthyretin Amyloid Polyneuropathy	Fap
Familial Transthyretin Amyloidosis	Amyloidosis Transthyretin Related
Type I Familial Amyloid Polyneuropathy	Familial Amyloid Polyneuropathy Type I
Attrv122i Amyloidosis	Hereditary Amyloidosis, Transthyretin-Related
Amyloid Polyneuropathy, Familial	Attr Amyloidosis
Attrm Amyloidosis	Corino De Andrade'S Disease
Paramyloidosis	Transthyretin-Related Hereditary Amyloidosis
Ttr Amyloidosis	Hereditary Attr Amyloidosis
Portuguese Polyneuritic Amyloidosis	Portuguese Type Familial Amyloid Neuropathy
Swiss Type Amyloid Polyneuropathy	Type Ii Familial Amyloid Polyneuropathy
Attrv30m Amyloidosis	Attrv30m-Related Amyloidosis
Familial Amyloid Polyneuropathy, Portuguese-Swedish-Japanese Type	Attr Cardiomyopathy
Attrv122i-Related Amyloidosis	Ttr-Related Amyloid Cardiomyopathy
Ttr-Related Cardiac Amyloidosis	Transthyretin Amyloid Cardiopathy
Transthyretin-Related Familial Amyloid Cardiomyopathy	Amyloidosis, Transthyretin-Related
AMYL-TTR	Amyloidosis I
Amyloidosis Ohio Type	Amyloidosis Type 7
Amyloidosis Vii	Amyloid Polyneuropathy
Attr	Familial Amyloid Polyneuropathy Type Ii
Hereditary Amyloidosis Transthyretin-Related	Leptomeningeal Amyloidosis
Meningocerebrovascular Amyloidosis	Oculoleptomeningeal Amyloidosis
Familial Amyloid Polyneuropathies	Amyloidosis, Leptomeningeal
Senile Cardiac Amyloidosis	Amyloid Neuropathies, Familial
Danish Type Familial Amyloid Cardiomyopathy	Familial Amyloid Neuropathy, Portuguese Type
Amyloid Polyneuropathy, Swiss Type	Hereditary Oculoleptomeningeal Amyloid Angiopathy
Amyloid Neuropathies

Bone Structure Disease

Lethal Congenital Contracture Syndrome 4

LCCS4

Contracture Syndrome, Lethal, Congenital, Type 4

Tay-Sachs Disease

Hexosaminidase A Deficiency	TSD
Hexa Deficiency	Gm2 Gangliosidosis, Type 1
Hexosaminidase Alpha-Subunit Deficiency	Gm2-Gangliosidosis, Several Forms
Gm2-Gangliosidosis, B, B1, Ab Variant	B Variant Gm2 Gangliosidosis
Sphingolipidosis, Tay-Sachs	Gm2-Gangliosidosis, Type I
B Variant Gm2-Gangliosidosis	Hex A Pseudodeficiency
Hexa Disorders	Beta-Hexosaminidase A Deficiency
Gm2 Gangliosidosis, Type I	Gangliosidosis Gm2 , Type 1
Gm2 Gangliosidosis, B, B1 Variant	Gm2-Gangliosidosis 1
GM2G1	Gm2-Gangliosidosis B Variant
Tay-Sachs Disease Pseudo-Ab Variant	Tay-Sachs Disease Variant B1
Gangliosidoses, Gm2

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

Myopathy

Muscular Diseases

Myopathies

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

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

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

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

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

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SMN1	RGD	RGD:620755
Mus musculus	SMN1	MGD	MGI:109257