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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MalaCards based summary: 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: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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Distal Congenital Nonprogressive Spinal Muscular Atrophy, Aliases & Descriptions:

Name: 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


Classifications:

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


External Ids:

OMIM46 600175
ICD10 via Orphanet26 G12.2

Related Diseases for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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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 310.1TRPV4
2muscular atrophy10.1TRPV4
3parastremmatic dwarfism10.1TRPV4
4metatropic dysplasia10.0TRPV4

Symptoms for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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Symptoms by clinical synopsis from OMIM:

600175

Clinical features 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

HPO human phenotypes related to Distal Congenital Nonprogressive Spinal Muscular Atrophy:

(show all 26)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 limitation of joint mobility hallmark (90%) HP:0001376
3 amyotrophy hallmark (90%) HP:0003202
4 decreased body weight hallmark (90%) HP:0004325
5 autosomal dominant inheritance HP:0000006
6 hyporeflexia HP:0001265
7 areflexia HP:0001284
8 decreased fetal movement HP:0001558
9 talipes equinovarus HP:0001762
10 pes planus HP:0001763
11 distal muscle weakness HP:0002460
12 scoliosis HP:0002650
13 arthrogryposis multiplex congenita HP:0002804
14 kyphosis HP:0002808
15 elbow flexion contracture HP:0002987
16 elevated serum creatine phosphokinase HP:0003236
17 hip contracture HP:0003273
18 hyperlordosis HP:0003307
19 nonprogressive disorder HP:0003680
20 distal amyotrophy HP:0003693
21 variable expressivity HP:0003828
22 incomplete penetrance HP:0003829
23 knee flexion contracture HP:0006380
24 spinal muscular atrophy HP:0007269
25 proximal lower limb amyotrophy HP:0008956
26 nonprogressive muscular atrophy HP:0008964

Drugs & Therapeutics for Distal Congenital Nonprogressive Spinal Muscular Atrophy

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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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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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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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet