HMN8
MCID: SPN303
MIFTS: 23

Spinal Muscular Atrophy, Distal, Congenital Nonprogressive (HMN8) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Aliases & Descriptions for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:

Name: Spinal Muscular Atrophy, Distal, Congenital Nonprogressive 54 13
Congenital Benign Spinal Muscular Atrophy with Contractures 24 56
Distal Spinal Muscular Atrophy, Congenital Non-Progressive 66 29
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy 56
Spinal Muscular Atrophy Congenital Benign with Contractures 66
Distal Congenital Nonprogressive Spinal Muscular Atrophy 24
Autosomal Dominant Benign Distal Spinal Muscular Atrophy 56
Congenital Nonprogressive Spinal Muscular Atrophy 56
Neuronopathy, Distal Hereditary Motor, Type Viii 54
Neuropathy, Distal Hereditary Motor, Type Viii 66
Neuronopathy, Distal Hereditary Motor, 8 66
Dhmn8 66
Hmn8 66

Characteristics:

Orphanet epidemiological data:

56

HPO:

32
spinal muscular atrophy, distal, congenital nonprogressive:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance nonprogressive


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 600175
Orphanet 56 ORPHA1216
ICD10 via Orphanet 34 G12.2
MedGen 40 C1838492
MeSH 42 D009134

Summaries for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

UniProtKB/Swiss-Prot : 66 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 has symptoms including cachexia, joint stiffness 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: 600175

Related Diseases for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Diseases related to Spinal Muscular Atrophy, Distal, Congenital Nonprogressive via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 neuronopathy, distal hereditary motor, type i 11.0

Symptoms & Phenotypes for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Symptoms by clinical synopsis from OMIM:

600175

Clinical features from OMIM:

600175

Human phenotypes related to Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 56 32 Very frequent (99-80%) HP:0004326
2 joint stiffness 56 32 Very frequent (99-80%) HP:0001387
3 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
4 distal amyotrophy 56 32 Very frequent (99-80%) HP:0003693
5 nonprogressive muscular atrophy 56 32 Very frequent (99-80%) HP:0008964
6 scoliosis 32 HP:0002650
7 kyphosis 32 HP:0002808
8 hyperlordosis 32 HP:0003307
9 pes planus 32 HP:0001763
10 elevated serum creatine phosphokinase 32 HP:0003236
11 arthrogryposis multiplex congenita 32 HP:0002804
12 talipes equinovarus 32 HP:0001762
13 areflexia 32 HP:0001284
14 hyporeflexia 32 HP:0001265
15 decreased fetal movement 32 HP:0001558
16 hip contracture 32 HP:0003273
17 distal muscle weakness 32 HP:0002460
18 proximal lower limb amyotrophy 32 HP:0008956
19 knee flexion contracture 32 HP:0006380
20 elbow flexion contracture 32 HP:0002987
21 spinal muscular atrophy 32 HP:0007269

Drugs & Therapeutics for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Genetic Tests for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Genetic tests related to Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:

id Genetic test Affiliating Genes
1 Distal Spinal Muscular Atrophy, Congenital Nonprogressive 29
2 Distal Congenital Nonprogressive Spinal Muscular Atrophy 24 TRPV4

Anatomical Context for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Publications for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Variations for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:

66
id Symbol AA change Variation ID SNP ID
1 TRPV4 p.Arg269His VAR_063529 rs267607144
2 TRPV4 p.Pro97Arg VAR_067989
3 TRPV4 p.Arg232Cys VAR_067990 rs387906904

ClinVar genetic disease variations for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
2 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
3 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
4 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh37 Chromosome 12, 110240814: 110240814
5 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh37 Chromosome 12, 110246103: 110246103

Expression for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive.

Pathways for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

GO Terms for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Sources for Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....