MCID: SPN303
MIFTS: 27

Spinal Muscular Atrophy, Distal, Congenital Nonprogressive malady

Categories: Genetic diseases, Neuronal diseases, Rare 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 50 12
Congenital Benign Spinal Muscular Atrophy with Contractures 23 52
Distal Spinal Muscular Atrophy, Congenital Non-Progressive 68 25
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy 52
Spinal Muscular Atrophy Congenital Benign with Contractures 68
Distal Congenital Nonprogressive Spinal Muscular Atrophy 23
Autosomal Dominant Benign Distal Spinal Muscular Atrophy 52
 
Congenital Nonprogressive Spinal Muscular Atrophy 52
Neuronopathy, Distal Hereditary Motor, Type Viii 50
Neuropathy, Distal Hereditary Motor, Type Viii 68
Neuronopathy, Distal Hereditary Motor, 8 68
Dhmn8 68
Hmn8 68

Characteristics:

Orphanet epidemiological data:

52

HPO:

62
spinal muscular atrophy, distal, congenital nonprogressive:
Inheritance: autosomal dominant inheritance
Onset and clinical course: nonprogressive, variable expressivity, incomplete penetrance


Classifications:



External Ids:

OMIM50 600175
Orphanet52 ORPHA1216
ICD10 via Orphanet29 G12.2
MedGen35 C1838492
MeSH37 D009134

Summaries for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

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UniProtKB/Swiss-Prot:68 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 congenital benign spinal muscular atrophy with contractures, is related to neuronopathy, distal hereditary motor, type i and sulfite oxidase deficiency, and has symptoms including muscular hypotonia, limitation of joint mobility and decreased body weight. 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:50 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

Symptoms:

 52
  • muscular hypotonia
  • joint stiffness
  • distal amyotrophy
  • cachexia
  • nonprogressive muscular atrophy

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

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

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 Spinal Muscular Atrophy, Congenital Nonprogressive25
2 Distal Congenital Nonprogressive Spinal Muscular Atrophy23 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:

68
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg269HisVAR_063529rs267607144
2TRPV4p.Pro97ArgVAR_067989
3TRPV4p.Arg232CysVAR_067990rs387906904

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 variantLikely pathogenic, Pathogenicrs397514494GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet