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 57 6 73
Fshsma 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant form


HPO:

32
spinal muscular atrophy, facioscapulohumeral type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 182970
MedGen 42 C1866783
SNOMED-CT via HPO 69 263681008 5262007
UMLS 73 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

Symptoms via clinical synopsis from OMIM:

57
Muscle:
face and pectoral girdle muscular atrophy

Misc:
onset in early adult life


Clinical features from OMIM:

182970

Human phenotypes related to Spinal Muscular Atrophy, Facioscapulohumeral Type:

32
# Description HPO Frequency HPO Source Accession
1 spinal muscular atrophy 32 HP:0007269

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 GRCh37 Chromosome 1, 6536082: 6536082
2 PLEKHG5 NM_001265593.1(PLEKHG5): c.265del (p.Arg89Glyfs) deletion Pathogenic 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....