MCID: SPN386
MIFTS: 11

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 70
Fshsma 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant form


HPO:

31
spinal muscular atrophy, facioscapulohumeral type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 182970
MedGen 41 C1866783
SNOMED-CT via HPO 68 263681008 5262007
UMLS 70 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.

More information 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:

31
# Description HPO Frequency HPO Source Accession
1 spinal muscular atrophy 31 HP:0007269

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle:
face and pectoral girdle muscular atrophy

Misc:
onset in early adult life

Clinical features from OMIM®:

182970 (Updated 05-Apr-2021)

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

Articles related to Spinal Muscular Atrophy, Facioscapulohumeral Type:

# Title Authors PMID Year
1
Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease. 57 61
2570155 1989
2
Chronic spinal muscular atrophy simulating facioscapulohumeral type and limb-girdle type of muscular dystrophy. Report of two cases. 57
615721 1977
3
Chronic spinal muscular atrophy of facioscapulohumeral type. 57
957378 1976
4
Neurogenic atrophy simulating facioscapulohumeral dystrophy. A dominant form. 57
6053568 1967

Variations for Spinal Muscular Atrophy, Facioscapulohumeral Type

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLEKHG5 NM_001265593.1(PLEKHG5):c.265del (p.Arg89fs) Deletion Pathogenic 549691 rs1553175760 GRCh37: 1:6536082-6536082
GRCh38: 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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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