MCID: MSC158
MIFTS: 18

Muscular Dystrophy, Scapulohumeral

Categories: Muscle diseases

Aliases & Classifications for Muscular Dystrophy, Scapulohumeral

MalaCards integrated aliases for Muscular Dystrophy, Scapulohumeral:

Name: Muscular Dystrophy, Scapulohumeral 56 71
Scapulohumeral Muscular Dystrophy 29 6

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
muscular dystrophy, scapulohumeral:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 600416
MedGen 41 C0410192
UMLS 71 C0410192

Summaries for Muscular Dystrophy, Scapulohumeral

MalaCards based summary : Muscular Dystrophy, Scapulohumeral, also known as scapulohumeral muscular dystrophy, is related to muscular dystrophy. An important gene associated with Muscular Dystrophy, Scapulohumeral is SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1). Affiliated tissues include heart, and related phenotypes are muscle weakness and abnormality of the nervous system

More information from OMIM: 600416

Related Diseases for Muscular Dystrophy, Scapulohumeral

Diseases related to Muscular Dystrophy, Scapulohumeral via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 10.2

Symptoms & Phenotypes for Muscular Dystrophy, Scapulohumeral

Human phenotypes related to Muscular Dystrophy, Scapulohumeral:

31
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 abnormality of the nervous system 31 HP:0000707
3 abnormality of metabolism/homeostasis 31 HP:0001939
4 scapulohumeral muscular dystrophy 31 HP:0008970

Symptoms via clinical synopsis from OMIM:

56
Muscle:
scapulohumeral muscular dystrophy
no facial weakness
often marked asymmetry of weakness
no distal weakness

Neuro:
no sensory abnormalities
no dysarthria

Misc:
onset in shoulders between 12 and 40 years

Cardiac:
no cardiomyopathy

Limbs:
no contractures

Lab:
minimal elevation of creatine kinase
low amplitude, short duration, and polyphasic units on emg
excessive variation of muscle fiber size and scattered fibers with internal nuclei, but no fiber type grouping on atpase preparations

Clinical features from OMIM:

600416

Drugs & Therapeutics for Muscular Dystrophy, Scapulohumeral

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Scapulohumeral

Genetic Tests for Muscular Dystrophy, Scapulohumeral

Genetic tests related to Muscular Dystrophy, Scapulohumeral:

# Genetic test Affiliating Genes
1 Scapulohumeral Muscular Dystrophy 29

Anatomical Context for Muscular Dystrophy, Scapulohumeral

MalaCards organs/tissues related to Muscular Dystrophy, Scapulohumeral:

40
Heart

Publications for Muscular Dystrophy, Scapulohumeral

Articles related to Muscular Dystrophy, Scapulohumeral:

# Title Authors PMID Year
1
A scapular onset muscular dystrophy without facial involvement: possible allelism with facioscapulohumeral muscular dystrophy. 56
7881292 1994
2
Genetic counselling in facioscapulohumeral muscular dystrophy. 56
1941962 1991
3
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree. 61
17895902 2007
4
[Facioscapulohumeral muscle dystrophy and heart disease]. 61
15868364 2005
5
Association of schizophrenia and mental retardation with facio-scapulohumeral muscular dystrophy. 61
15069253 2004
6
Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2. 61
10699183 2000

Variations for Muscular Dystrophy, Scapulohumeral

ClinVar genetic disease variations for Muscular Dystrophy, Scapulohumeral:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMCHD1 NM_015295.2(SMCHD1):c.4459C>T (p.Gln1487Ter)SNV Pathogenic 689561 18:2762127-2762127 18:2762129-2762129
2 SMCHD1 NM_015295.2(SMCHD1):c.790G>A (p.Glu264Lys)SNV Likely pathogenic 689564 18:2688662-2688662 18:2688664-2688664
3 SMCHD1 NM_015295.2(SMCHD1):c.1286_1288ATC[1] (p.His430del)short repeat Likely pathogenic 291312 rs886044914 18:2697983-2697985 18:2697985-2697987
4 SMCHD1 NM_015295.2(SMCHD1):c.3679G>C (p.Gly1227Arg)SNV Likely pathogenic 446476 rs1204021010 18:2743804-2743804 18:2743806-2743806
5 SMCHD1 NM_015295.2(SMCHD1):c.3529G>T (p.Asp1177Tyr)SNV Likely pathogenic 560349 rs1568280995 18:2740715-2740715 18:2740717-2740717
6 SMCHD1 NM_015295.2(SMCHD1):c.4966+5G>ASNV Likely pathogenic 637006 18:2770111-2770111 18:2770113-2770113
7 SMCHD1 NM_015295.2(SMCHD1):c.3209T>C (p.Ile1070Thr)SNV Conflicting interpretations of pathogenicity 286021 rs113434340 18:2732423-2732423 18:2732425-2732425
8 SMCHD1 NM_015295.2(SMCHD1):c.1172A>G (p.Asn391Ser)SNV Uncertain significance 689563 18:2697869-2697869 18:2697871-2697871
9 SMCHD1 NM_015295.2(SMCHD1):c.89T>G (p.Leu30Trp)SNV Uncertain significance 689562 18:2656163-2656163 18:2656164-2656164
10 SMCHD1 NM_015295.2(SMCHD1):c.3097A>G (p.Ser1033Gly)SNV Uncertain significance 637007 18:2732311-2732311 18:2732313-2732313
11 SMCHD1 NM_015295.2(SMCHD1):c.694A>G (p.Ile232Val)SNV Uncertain significance 560357 rs1568143698 18:2688447-2688447 18:2688449-2688449
12 SMCHD1 NM_015295.2(SMCHD1):c.2384T>C (p.Val795Ala)SNV Uncertain significance 560350 rs1480135119 18:2718358-2718358 18:2718360-2718360

Expression for Muscular Dystrophy, Scapulohumeral

Search GEO for disease gene expression data for Muscular Dystrophy, Scapulohumeral.

Pathways for Muscular Dystrophy, Scapulohumeral

GO Terms for Muscular Dystrophy, Scapulohumeral

Sources for Muscular Dystrophy, Scapulohumeral

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
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35 IUPHAR
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43 MeSH
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50 NDF-RT
53 NINDS
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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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