MCID: SPN303
MIFTS: 26

Spinal Muscular Atrophy, Distal, Congenital Nonprogressive malady

Categories: Genetic diseases (common), Neuronal 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 49 11
Distal Spinal Muscular Atrophy, Congenital Non-Progressive 67 24
Congenital Benign Spinal Muscular Atrophy with Contractures 22
Spinal Muscular Atrophy Congenital Benign with Contractures 67
Distal Congenital Nonprogressive Spinal Muscular Atrophy 22
 
Neuropathy, Distal Hereditary Motor, Type Viii 67
Neuronopathy, Distal Hereditary Motor, 8 67
Dhmn8 67
Hmn8 67

Characteristics:

HPO:

61
spinal muscular atrophy, distal, congenital nonprogressive:
Onset and clinical course: incomplete penetrance, variable expressivity, nonprogressive
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 600175
MedGen34 C1838492
MeSH36 D009134

Summaries for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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UniProtKB/Swiss-Prot:67 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 distal spinal muscular atrophy, congenital non-progressive, is related to autosomal dominant congenital benign spinal muscular atrophy and neuronopathy, distal hereditary motor, type i, and has symptoms including decreased body weight, limitation of joint mobility and muscular hypotonia. 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:49 600175

Related Diseases for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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Graphical network of diseases related to Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:



Diseases related to spinal muscular atrophy, distal, congenital nonprogressive

Symptoms for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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Symptoms by clinical synopsis from OMIM:

600175

Clinical features from OMIM:

600175

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

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

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 Congenital Nonprogressive Spinal Muscular Atrophy22 TRPV4

Anatomical Context for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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

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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:

67
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg269HisVAR_063529
2TRPV4p.Pro97ArgVAR_067989
3TRPV4p.Arg232CysVAR_067990

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)single nucleotide variantPathogenicrs387906904GRCh37Chr 12, 110240814: 110240814
2TRPV4NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln)single nucleotide variantPathogenicrs397514494GRCh37Chr 12, 110246103: 110246103
3TRPV4NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)single nucleotide variantPathogenicrs267607143GRCh37Chr 12, 110236628: 110236628
4TRPV4NM_021625.4(TRPV4): c.806G> A (p.Arg269His)single nucleotide variantPathogenicrs267607144GRCh37Chr 12, 110238470: 110238470
5TRPV4NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys)single nucleotide variantPathogenicrs267607146GRCh37Chr 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet