MCID: SPN303
MIFTS: 23

Spinal Muscular Atrophy, Distal, Congenital Nonprogressive malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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Aliases & Descriptions for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:

Name: Spinal Muscular Atrophy, Distal, Congenital Nonprogressive 52 12
Congenital Benign Spinal Muscular Atrophy with Contractures 24 54
Distal Spinal Muscular Atrophy, Congenital Non-Progressive 70 27
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy 54
Spinal Muscular Atrophy Congenital Benign with Contractures 70
Distal Congenital Nonprogressive Spinal Muscular Atrophy 24
Autosomal Dominant Benign Distal Spinal Muscular Atrophy 54
 
Congenital Nonprogressive Spinal Muscular Atrophy 54
Neuronopathy, Distal Hereditary Motor, Type Viii 52
Neuropathy, Distal Hereditary Motor, Type Viii 70
Neuronopathy, Distal Hereditary Motor, 8 70
Dhmn8 70
Hmn8 70

Characteristics:

Orphanet epidemiological data:

54

HPO:

64
spinal muscular atrophy, distal, congenital nonprogressive:
Inheritance: autosomal dominant inheritance
Onset and clinical course: nonprogressive, variable expressivity, incomplete penetrance

Classifications:



External Ids:

OMIM52 600175
Orphanet54 ORPHA1216
ICD10 via Orphanet31 G12.2
MedGen37 C1838492
MeSH39 D009134

Summaries for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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UniProtKB/Swiss-Prot:70 Neuronopathy, distal hereditary motor, 8: A clinically variable, neuromuscular disorder characterized by congenital lower motor neuron disorder restricted to the lower part of the body. Clinical manifestations include non-progressive muscular atrophy, thigh muscle atrophy, weak thigh adductors, weak knee and foot extensors, minimal jaw muscle and neck flexor weakness, flexion contractures of knees and pes equinovarus. Tendon reflexes are normal.

MalaCards based summary: Spinal Muscular Atrophy, Distal, Congenital Nonprogressive, also known as congenital benign spinal muscular atrophy with contractures, is related to neuronopathy, distal hereditary motor, type i, and has symptoms including muscular hypotonia, limitation of joint mobility and decreased body weight. An important gene associated with Spinal Muscular Atrophy, Distal, Congenital Nonprogressive is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4).

Description from OMIM:52 600175

Related Diseases for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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Diseases related to Spinal Muscular Atrophy, Distal, Congenital Nonprogressive via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1neuronopathy, distal hereditary motor, type i11.0

Symptoms & Phenotypes for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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Symptoms by clinical synopsis from OMIM:

600175

Clinical features from OMIM:

600175

Human phenotypes related to Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:

 64 54 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
2 limitation of joint mobility64 hallmark (90%) HP:0001376
3 decreased body weight64 hallmark (90%) HP:0004325
4 hyporeflexia64 HP:0001265
5 areflexia64 HP:0001284
6 decreased fetal movement64 HP:0001558
7 talipes equinovarus64 HP:0001762
8 pes planus64 HP:0001763
9 distal muscle weakness64 HP:0002460
10 scoliosis64 HP:0002650
11 arthrogryposis multiplex congenita64 HP:0002804
12 kyphosis64 HP:0002808
13 elbow flexion contracture64 HP:0002987
14 elevated serum creatine phosphokinase64 HP:0003236
15 hip contracture64 HP:0003273
16 hyperlordosis64 HP:0003307
17 distal amyotrophy64 54 Very frequent (99-80%) HP:0003693
18 knee flexion contracture64 HP:0006380
19 spinal muscular atrophy64 HP:0007269
20 proximal lower limb amyotrophy64 HP:0008956
21 nonprogressive muscular atrophy64 54 Very frequent (99-80%) HP:0008964
22 joint stiffness54 Very frequent (99-80%)
23 cachexia54 Very frequent (99-80%)

Drugs & Therapeutics for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Genetic Tests for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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Genetic tests related to Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:

id Genetic test Affiliating Genes
1 Distal Spinal Muscular Atrophy, Congenital Nonprogressive27
2 Distal Congenital Nonprogressive Spinal Muscular Atrophy24 TRPV4

Anatomical Context for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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Publications for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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Variations for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:

70
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg269HisVAR_063529rs267607144
2TRPV4p.Pro97ArgVAR_067989
3TRPV4p.Arg232CysVAR_067990rs387906904

Clinvar genetic disease variations for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TRPV4NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys)SNVPathogenicrs387906904GRCh37Chr 12, 110240814: 110240814
2TRPV4NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln)SNVLikely pathogenic, Pathogenicrs397514494GRCh37Chr 12, 110246103: 110246103
3TRPV4NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)SNVPathogenicrs267607143GRCh37Chr 12, 110236628: 110236628
4TRPV4NM_021625.4(TRPV4): c.806G> A (p.Arg269His)SNVPathogenicrs267607144GRCh37Chr 12, 110238470: 110238470
5TRPV4NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys)SNVPathogenicrs267607146GRCh37Chr 12, 110238471: 110238471

Expression for genes affiliated with Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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Search GEO for disease gene expression data for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive.

Pathways for genes affiliated with Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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GO Terms for genes affiliated with Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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Sources for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet