Scapuloperoneal Myopathy, Myh7-Related disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Scapuloperoneal Myopathy, Myh7-Related

MalaCards integrated aliases for Scapuloperoneal Myopathy, Myh7-Related:

Name: Scapuloperoneal Myopathy, Myh7-Related ⁵⁷ ⁵³ ²⁹ ⁶

Scapuloperoneal Syndrome, Myopathic Type ⁵⁷ ⁵³ ¹³

Spmm ⁵⁷ ⁵³ ⁷⁵

Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy ⁵³ ⁵⁹

Myh7-Related Late-Onset Scapuloperoneal Syndrome ⁵³ ⁵⁹

Scapuloperoneal Muscular Dystrophy ⁵⁷ ⁵³

Myh7-Related Late-Onset Spmd ⁵³ ⁵⁹

Spmd ⁵⁷ ⁵³

X-Linked Emery-Dreifuss Muscular Dystrophy ⁷³

Scapuloperoneal Muscular Dystrophy; Spmd ⁵⁷

Scapuloperoneal Syndrome Myopathic Type ⁷⁵

Myopathy, Scapuloperoneal, Myh7-Related ⁴⁰

Myh7-Related Scapuloperoneal Myopathy ⁵³

Scapuloperoneal Myopathy Myh7-Related ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

myh7-related late-onset scapuloperoneal muscular dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: Not yet documented;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

scapuloperoneal myopathy, myh7-related:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Muscular dystrophy

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 181430

Orphanet ⁵⁹ ORPHA437572

ICD10 via Orphanet ³⁴ G71.0

MedGen ⁴² C0751337 C2931268 CN074265

SNOMED-CT via HPO ⁶⁹ 263681008

UMLS ⁷³ C0751337

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Summaries for Scapuloperoneal Myopathy, Myh7-Related

NIH Rare Diseases : ⁵³ MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the MYH7 gene. Autosomal dominant inheritance is suggested in these cases. Treatment is symptomatic and supportive.

MalaCards based summary : Scapuloperoneal Myopathy, Myh7-Related, also known as scapuloperoneal syndrome, myopathic type, is related to scapuloperoneal myopathy, x-linked dominant and emery-dreifuss muscular dystrophy, and has symptoms including waddling gait An important gene associated with Scapuloperoneal Myopathy, Myh7-Related is MYH7 (Myosin Heavy Chain 7). Related phenotypes are emg and scapuloperoneal myopathy

UniProtKB/Swiss-Prot : ⁷⁵ Scapuloperoneal myopathy MYH7-related: Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.

Description from OMIM: 181430

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Related Diseases for Scapuloperoneal Myopathy, Myh7-Related

Diseases in the Scapuloperoneal Myopathy family:

Scapuloperoneal Myopathy, Myh7-Related

Diseases related to Scapuloperoneal Myopathy, Myh7-Related via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	scapuloperoneal myopathy, x-linked dominant	11.2
2	emery-dreifuss muscular dystrophy	11.2
3	muscular dystrophy	10.3
4	telangiectasis	10.0
5	retinitis	10.0
6	myopathy	10.0
7	camptocormism	9.6	MHRT MYH7
8	myopathy, myosin storage, autosomal recessive	9.5	MHRT MYH7
9	myopathy, distal, 1	9.5	MHRT MYH7
10	myosin storage myopathy	9.4	MHRT MYH7
11	scapuloperoneal myopathy	9.3	MHRT MYH7
12	left ventricular noncompaction	9.2	MHRT MYH7
13	heart disease	9.0	MHRT MYH7

Graphical network of the top 20 diseases related to Scapuloperoneal Myopathy, Myh7-Related:

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Symptoms & Phenotypes for Scapuloperoneal Myopathy, Myh7-Related

Symptoms via clinical synopsis from OMIM:

⁵⁷

Muscle:
scapuloperoneal myopathy
facial myopathy

Lab:
myopathic electromyography and muscle biopsy

Misc:
slow progression

Clinical features from OMIM:

181430

Human phenotypes related to Scapuloperoneal Myopathy, Myh7-Related:

³²

#	Description	HPO Source Accession
1	emg ³²	HP:0003458
2	scapuloperoneal myopathy ³²	HP:0009054
3	weakness of facial musculature ³²	HP:0030319

UMLS symptoms related to Scapuloperoneal Myopathy, Myh7-Related:

waddling gait

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Drugs & Therapeutics for Scapuloperoneal Myopathy, Myh7-Related

Search Clinical Trials , NIH Clinical Center for Scapuloperoneal Myopathy, Myh7-Related

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Genetic Tests for Scapuloperoneal Myopathy, Myh7-Related

Genetic tests related to Scapuloperoneal Myopathy, Myh7-Related:

#	Genetic test	Affiliating Genes
1	Scapuloperoneal Myopathy, Myh7-Related ²⁹	MYH7

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Anatomical Context for Scapuloperoneal Myopathy, Myh7-Related

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Publications for Scapuloperoneal Myopathy, Myh7-Related

Articles related to Scapuloperoneal Myopathy, Myh7-Related:

#	Title	Authors	Year
1	Facio-scapulo-humeral muscular dystrophy and its connection with facio-scapuloperoneal muscular dystrophy 4q35-linked: some historical remarks. ( 25873785 )		2014
2	Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite. ( 23142638 )	Liewluck T....Engel A.G.	2013
3	Retinal telangiectasis in scapuloperoneal muscular dystrophy. ( 1882951 )	Dickey J.B....Daily M.J.	1991

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Genes for Scapuloperoneal Myopathy, Myh7-Related

Genes related to Scapuloperoneal Myopathy, Myh7-Related (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MYH7	Myosin Heavy Chain 7	Protein Coding	1704.09	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	14520662 15699387 17336526 (more) 19336582
2	MHRT	Myosin Heavy Chain Associated RNA Transcript	RNA Gene	7.99	GeneCards inferred via : Variants (show sections)

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Variations for Scapuloperoneal Myopathy, Myh7-Related

UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Myopathy, Myh7-Related:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	MYH7	p.Arg1845Trp	VAR_017754	rs28933098

ClinVar genetic disease variations for Scapuloperoneal Myopathy, Myh7-Related:

⁶

(show all 14)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MYH7	NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp)	single nucleotide variant	Pathogenic	rs3218714	GRCh37	Chromosome 14, 23898488: 23898488
2	MYH7	NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp)	single nucleotide variant	Pathogenic	rs3218714	GRCh38	Chromosome 14, 23429279: 23429279
3	MYH7	NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp)	single nucleotide variant	Pathogenic	rs28933098	GRCh37	Chromosome 14, 23884230: 23884230
4	MYH7	NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp)	single nucleotide variant	Pathogenic	rs28933098	GRCh38	Chromosome 14, 23415021: 23415021
5	MYH7	NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397516127	GRCh37	Chromosome 14, 23896043: 23896043
6	MYH7	NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397516127	GRCh38	Chromosome 14, 23426834: 23426834
7	MYH7	NM_000257.3(MYH7): c.1988G> A (p.Arg663His)	single nucleotide variant	Pathogenic	rs371898076	GRCh37	Chromosome 14, 23896042: 23896042
8	MYH7	NM_000257.3(MYH7): c.1988G> A (p.Arg663His)	single nucleotide variant	Pathogenic	rs371898076	GRCh38	Chromosome 14, 23426833: 23426833
9	MYH7	NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs3218716	GRCh37	Chromosome 14, 23894525: 23894525
10	MYH7	NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs3218716	GRCh38	Chromosome 14, 23425316: 23425316
11	MYH7	NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397516171	GRCh37	Chromosome 14, 23893250: 23893250
12	MYH7	NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397516171	GRCh38	Chromosome 14, 23424041: 23424041
13	MYH7	NM_000257.3(MYH7): c.1544T> C (p.Met515Thr)	single nucleotide variant	Likely pathogenic	rs863224900	GRCh37	Chromosome 14, 23897743: 23897743
14	MYH7	NM_000257.3(MYH7): c.1544T> C (p.Met515Thr)	single nucleotide variant	Likely pathogenic	rs863224900	GRCh38	Chromosome 14, 23428534: 23428534

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Expression for Scapuloperoneal Myopathy, Myh7-Related

Search GEO for disease gene expression data for Scapuloperoneal Myopathy, Myh7-Related.

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Pathways for Scapuloperoneal Myopathy, Myh7-Related

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GO Terms for Scapuloperoneal Myopathy, Myh7-Related

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Sources for Scapuloperoneal Myopathy, Myh7-Related

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²⁰ GeneAnalytics

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²⁶ GenomeRNAi

²⁷ GEO DataSets

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³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

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⁴¹ MalaCards

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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia