MCID: DST017
MIFTS: 25

Distal Congenital Nonprogressive Spinal Muscular Atrophy malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories

Summaries for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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48OMIM, 34MalaCards
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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:48 600175

Aliases & Classifications for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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Sources:
21GeneTests, 23GTR, 48OMIM, 50Orphanet, 27ICD10 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 21 23
autosomal dominant congenital benign spinal muscular atrophy 50
congenital benign spinal muscular atrophy with contractures 50
spinal muscular atrophy, distal, congenital nonprogressive 48
autosomal dominant benign distal spinal muscular atrophy 50
congenital nonprogressive spinal muscular atrophy 50


External Ids:

OMIM48 600175
ICD10 via Orphanet27 G12.2

Related Diseases for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

600175

Clinical features from OMIM:

600175

Symptoms:

50
  • 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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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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 Atrophy21 TRPV4
2 Distal Spinal Muscular Atrophy, Congenital Nonprogressive23

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:
65UniProtKB/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:

65
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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Sources:
2BioGPS, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet