MCID: DST017
MIFTS: 25

Distal Congenital Nonprogressive Spinal Muscular Atrophy malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories
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Summaries for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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Sources:
47OMIM, 33MalaCards
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MalaCards: Distal Congenital Nonprogressive Spinal Muscular Atrophy, also known as autosomal dominant congenital benign spinal muscular atrophy, is related to brachyolmia type 3 and 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:47 600175

Aliases & Classifications for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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Sources:
20GeneTests, 22GTR, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

distal congenital nonprogressive spinal muscular atrophy 20 22
autosomal dominant congenital benign spinal muscular atrophy 49
congenital benign spinal muscular atrophy with contractures 49
spinal muscular atrophy, distal, congenital nonprogressive 47
autosomal dominant benign distal spinal muscular atrophy 49
congenital nonprogressive spinal muscular atrophy 49


External Ids:

OMIM47 600175
ICD10 via Orphanet26 G12.2

Related Diseases for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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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
1brachyolmia type 310.0TRPV4
2muscular atrophy10.0TRPV4
3parastremmatic dwarfism10.0TRPV4
4metatropic dysplasia10.0TRPV4

Symptoms for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

600175

Clinical features from OMIM:

600175

Symptoms:

49
  • 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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Distal Congenital Nonprogressive Spinal Muscular Atrophy

Search NIH Clinical Center for Distal Congenital Nonprogressive Spinal Muscular Atrophy

Genetic Tests for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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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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Variations for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Distal Congenital Nonprogressive Spinal Muscular Atrophy:

64
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg269HisVAR_063529
2TRPV4p.Pro97ArgVAR_067989
3TRPV4p.Arg232CysVAR_067990

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

1
id Gene Name Type Significance SNP ID Assembly Location
1TRPV4NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys)single nucleotide variantPathogenicrs387906904GRCh37Chr 12, 110240814: 110240814
2TRPV4NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)single nucleotide variantPathogenicrs267607143GRCh37Chr 12, 110236628: 110236628
3TRPV4NM_021625.4(TRPV4): c.806G> A (p.Arg269His)single nucleotide variantPathogenicrs267607144GRCh37Chr 12, 110238470: 110238470
4TRPV4NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys)single nucleotide variantPathogenicrs267607146GRCh37Chr 12, 110238471: 110238471

Expression for genes affiliated with Distal Congenital Nonprogressive Spinal Muscular Atrophy

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2BioGPS, 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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet