MCID: SPN386
MIFTS: 9

Spinal Muscular Atrophy, Facioscapulohumeral Type

Categories: Muscle diseases

Aliases & Classifications for Spinal Muscular Atrophy, Facioscapulohumeral Type

MalaCards integrated aliases for Spinal Muscular Atrophy, Facioscapulohumeral Type:

Name: Spinal Muscular Atrophy, Facioscapulohumeral Type 58 6 74
Fshsma 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant form


HPO:

33
spinal muscular atrophy, facioscapulohumeral type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 182970
MedGen 43 C1866783
SNOMED-CT via HPO 70 263681008 5262007
UMLS 74 C1866783

Summaries for Spinal Muscular Atrophy, Facioscapulohumeral Type

MalaCards based summary : Spinal Muscular Atrophy, Facioscapulohumeral Type, is also known as fshsma. An important gene associated with Spinal Muscular Atrophy, Facioscapulohumeral Type is PLEKHG5 (Pleckstrin Homology And RhoGEF Domain Containing G5). Related phenotype is spinal muscular atrophy.

Description from OMIM: 182970

Related Diseases for Spinal Muscular Atrophy, Facioscapulohumeral Type

Symptoms & Phenotypes for Spinal Muscular Atrophy, Facioscapulohumeral Type

Human phenotypes related to Spinal Muscular Atrophy, Facioscapulohumeral Type:

33
# Description HPO Frequency HPO Source Accession
1 spinal muscular atrophy 33 HP:0007269

Symptoms via clinical synopsis from OMIM:

58
Muscle:
face and pectoral girdle muscular atrophy

Misc:
onset in early adult life

Clinical features from OMIM:

182970

Drugs & Therapeutics for Spinal Muscular Atrophy, Facioscapulohumeral Type

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Facioscapulohumeral Type

Genetic Tests for Spinal Muscular Atrophy, Facioscapulohumeral Type

Anatomical Context for Spinal Muscular Atrophy, Facioscapulohumeral Type

Publications for Spinal Muscular Atrophy, Facioscapulohumeral Type

Variations for Spinal Muscular Atrophy, Facioscapulohumeral Type

ClinVar genetic disease variations for Spinal Muscular Atrophy, Facioscapulohumeral Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEKHG5 NM_001265593.1(PLEKHG5): c.265del (p.Arg89Glyfs) deletion Pathogenic rs1553175760 GRCh37 Chromosome 1, 6536082: 6536082
2 PLEKHG5 NM_001265593.1(PLEKHG5): c.265del (p.Arg89Glyfs) deletion Pathogenic rs1553175760 GRCh38 Chromosome 1, 6476022: 6476022

Expression for Spinal Muscular Atrophy, Facioscapulohumeral Type

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Facioscapulohumeral Type.

Pathways for Spinal Muscular Atrophy, Facioscapulohumeral Type

GO Terms for Spinal Muscular Atrophy, Facioscapulohumeral Type

Sources for Spinal Muscular Atrophy, Facioscapulohumeral Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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