MCID: ATS428
MIFTS: 12

Autosomal Recessive Distal Hereditary Motor Neuropathy

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Distal Hereditary Motor Neuropathy

MalaCards integrated aliases for Autosomal Recessive Distal Hereditary Motor Neuropathy:

Name: Autosomal Recessive Distal Hereditary Motor Neuropathy 58 6
Autosomal Recessive Distal Spinal Muscular Atrophy 58
Autosomal Recessive Dhmn 58
Autosomal Recessive Dsma 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G12.2
Orphanet 58 ORPHA140468

Summaries for Autosomal Recessive Distal Hereditary Motor Neuropathy

MalaCards based summary : Autosomal Recessive Distal Hereditary Motor Neuropathy, also known as autosomal recessive distal spinal muscular atrophy, is related to spinal muscular atrophy, distal, autosomal recessive, 1 and spinal muscular atrophy, distal, autosomal recessive, 2. An important gene associated with Autosomal Recessive Distal Hereditary Motor Neuropathy is COL6A3 (Collagen Type VI Alpha 3 Chain).

Related Diseases for Autosomal Recessive Distal Hereditary Motor Neuropathy

Diseases in the Distal Hereditary Motor Neuropathies family:

Distal Hereditary Motor Neuropathy Type 7 Autosomal Recessive Distal Hereditary Motor Neuropathy

Diseases related to Autosomal Recessive Distal Hereditary Motor Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, distal, autosomal recessive, 1 11.9
2 spinal muscular atrophy, distal, autosomal recessive, 2 11.8
3 spinal muscular atrophy, distal, autosomal recessive, 3 11.8
4 spinal muscular atrophy, distal, autosomal recessive, 4 11.8
5 neuronopathy, distal hereditary motor, type va 11.6
6 spinal muscular atrophy, distal, autosomal recessive, 5 11.6
7 autosomal recessive distal hereditary motor neuronopathy 11.6
8 neuropathy 10.1

Graphical network of the top 20 diseases related to Autosomal Recessive Distal Hereditary Motor Neuropathy:



Diseases related to Autosomal Recessive Distal Hereditary Motor Neuropathy

Symptoms & Phenotypes for Autosomal Recessive Distal Hereditary Motor Neuropathy

Drugs & Therapeutics for Autosomal Recessive Distal Hereditary Motor Neuropathy

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Distal Hereditary Motor Neuropathy

Genetic Tests for Autosomal Recessive Distal Hereditary Motor Neuropathy

Anatomical Context for Autosomal Recessive Distal Hereditary Motor Neuropathy

Publications for Autosomal Recessive Distal Hereditary Motor Neuropathy

Articles related to Autosomal Recessive Distal Hereditary Motor Neuropathy:

# Title Authors PMID Year
1
Variants in MME are associated with autosomal-recessive distal hereditary motor neuropathy. 61
31429185 2019
2
A novel mutation in VRK1 associated with distal spinal muscular atrophy. 61
30617279 2019
3
HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum. 61
25274842 2014

Variations for Autosomal Recessive Distal Hereditary Motor Neuropathy

ClinVar genetic disease variations for Autosomal Recessive Distal Hereditary Motor Neuropathy:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL6A3 NM_004369.3(COL6A3):c.5500+3A>CSNV Uncertain significance 549695 rs1345603228 2:238275327-238275327 2:237366684-237366684

Expression for Autosomal Recessive Distal Hereditary Motor Neuropathy

Search GEO for disease gene expression data for Autosomal Recessive Distal Hereditary Motor Neuropathy.

Pathways for Autosomal Recessive Distal Hereditary Motor Neuropathy

GO Terms for Autosomal Recessive Distal Hereditary Motor Neuropathy

Sources for Autosomal Recessive Distal Hereditary Motor Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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