MCID: DST017
MIFTS: 24

Distal Congenital Nonprogressive Spinal Muscular Atrophy malady

Neuronal diseases, Muscle diseases categories

Summaries for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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Sources:
46OMIM, 32MalaCards
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MalaCards: Distal Congenital Nonprogressive Spinal Muscular Atrophy, also known as autosomal dominant congenital benign spinal muscular atrophy, is related to muscular atrophy, and has symptoms including hypotonia, muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy and restricted joint mobility/joint stiffness/ankylosis. An important gene associated with Distal Congenital Nonprogressive Spinal Muscular Atrophy is TRPV4 (transient receptor potential cation channel, subfamily V, member 4).

Description from OMIM:46 600175

Aliases & Classifications for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Muscle diseases


Aliases & Descriptions:

distal congenital nonprogressive spinal muscular atrophy 20 22
autosomal dominant congenital benign spinal muscular atrophy 48
congenital benign spinal muscular atrophy with contractures 48
spinal muscular atrophy, distal, congenital nonprogressive 46
autosomal dominant benign distal spinal muscular atrophy 48
congenital nonprogressive spinal muscular atrophy 48


External Ids:

OMIM46 600175
ICD10 via Orphanet26 G12.2

Related Diseases for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Distal Congenital Nonprogressive Spinal Muscular Atrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscular atrophy10.0TRPV4

Clinical Features for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

600175

Clinical synopsis from OMIM:

600175

Symptoms:

48
  • hypotonia
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal recessive inheritance
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy

Drugs & Therapeutics for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Distal Congenital Nonprogressive Spinal Muscular Atrophy

Drug clinical trials:

Search ClinicalTrials for Distal Congenital Nonprogressive Spinal Muscular Atrophy

Search NIH Clinical Center for Distal Congenital Nonprogressive Spinal Muscular Atrophy

Search CenterWatch for Distal Congenital Nonprogressive Spinal Muscular Atrophy

Genetic Tests for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Distal Congenital Nonprogressive Spinal Muscular Atrophy:

id Genetic test Affiliating Genes
1 Distal Congenital Nonprogressive Spinal Muscular Atrophy20 TRPV4
2 Distal Spinal Muscular Atrophy, Congenital Nonprogressive22

Anatomical Context for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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Animal Models for Distal Congenital Nonprogressive Spinal Muscular Atrophy or affiliated genes

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Publications for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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Genetic Variations for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Distal Congenital Nonprogressive Spinal Muscular Atrophy:

62
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg269HisVAR_063529
2TRPV4p.Pro97ArgVAR_067989
3TRPV4p.Arg232CysVAR_067990

Expression for genes affiliated with Distal Congenital Nonprogressive Spinal Muscular Atrophy

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Distal Congenital Nonprogressive Spinal Muscular Atrophy

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

Pathways for genes affiliated with Distal Congenital Nonprogressive Spinal Muscular Atrophy

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Compounds for genes affiliated with Distal Congenital Nonprogressive Spinal Muscular Atrophy

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

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Products for genes affiliated with Distal Congenital Nonprogressive Spinal Muscular Atrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet