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

SPMM MCID: SCP012 MIFTS: 35	Scapuloperoneal Myopathy, Myh7-Related (SPMM) Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Scapuloperoneal Myopathy, Myh7-Related

MalaCards integrated aliases for Scapuloperoneal Myopathy, Myh7-Related:

Name: Scapuloperoneal Myopathy, Myh7-Related ⁵⁶ ⁵²

Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy ⁵² ⁵⁸ ²⁹ ⁶

Myh7-Related Late-Onset Scapuloperoneal Syndrome ⁵² ⁵⁸

Scapuloperoneal Syndrome, Myopathic Type ⁵⁶ ¹³

Myh7-Related Late-Onset Spmd ⁵² ⁵⁸

Spmm ⁵⁶ ⁷³

X-Linked Emery-Dreifuss Muscular Dystrophy ⁷¹

Scapuloperoneal Muscular Dystrophy; Spmd ⁵⁶

Scapuloperoneal Syndrome Myopathic Type ⁷³

Myopathy, Scapuloperoneal, Myh7-Related ³⁹

Myh7-Related Scapuloperoneal Myopathy ⁵²

Scapuloperoneal Myopathy Myh7-Related ⁷³

Scapuloperoneal Muscular Dystrophy ⁵⁶

Spmd ⁵⁶

Characteristics:

Orphanet epidemiological data:

⁵⁸

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:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

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: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Muscular dystrophy

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

OMIM ⁵⁶ 181430

ICD10 via Orphanet ³³ G71.0

Orphanet ⁵⁸ ORPHA437572

MedGen ⁴¹ C2931268 CN074265

UMLS ⁷¹ C0751337

Sources

Summaries for Scapuloperoneal Myopathy, Myh7-Related

NIH Rare Diseases : ⁵² 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 myh7-related late-onset scapuloperoneal muscular dystrophy, is related to late-onset scapuloperoneal muscular dystrophy with hyaline bodies and scapuloperoneal myopathy, x-linked dominant, and has symptoms including waddling gait An important gene associated with Scapuloperoneal Myopathy, Myh7-Related is MYH7 (Myosin Heavy Chain 7). Affiliated tissues include heart, skeletal muscle and pituitary, and related phenotypes are elevated serum creatine kinase and increased variability in muscle fiber diameter

UniProtKB/Swiss-Prot : ⁷³ Scapuloperoneal myopathy MYH7-related: Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.

More information from OMIM: 181430

Sources

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 25)

#	Related Disease	Score
1	late-onset scapuloperoneal muscular dystrophy with hyaline bodies	12.4
2	scapuloperoneal myopathy, x-linked dominant	11.9
3	emery-dreifuss muscular dystrophy	11.5
4	muscular dystrophy	10.6
5	papillomatosis, confluent and reticulated	10.4
6	myopathy	10.3
7	autoimmune lymphoproliferative syndrome	10.2
8	ectodermal dysplasia-syndactyly syndrome 2	10.2
9	amyotrophic lateral sclerosis 1	10.2
10	atrial standstill 1	10.2
11	scapuloperoneal spinal muscular atrophy	10.2
12	muscular dystrophy, limb-girdle, autosomal recessive 8	10.2
13	myopathy, congenital	10.2
14	danon disease	10.2
15	frontotemporal dementia	10.2
16	joint laxity, short stature, and myopia	10.2
17	inclusion body myopathy with paget disease of bone and frontotemporal dementia	10.2
18	autosomal recessive limb-girdle muscular dystrophy type 2h	10.2
19	myopia	10.2
20	telangiectasis	10.2
21	lateral sclerosis	10.2
22	neuromuscular disease	10.2
23	paget's disease of bone	10.2
24	limb-girdle muscular dystrophy	10.2
25	progressive muscular dystrophy	10.2

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

Sources

Symptoms & Phenotypes for Scapuloperoneal Myopathy, Myh7-Related

Human phenotypes related to Scapuloperoneal Myopathy, Myh7-Related:

⁵⁸ ³¹ (show all 49)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	elevated serum creatine kinase ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003236
2	increased variability in muscle fiber diameter ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003557
3	foot dorsiflexor weakness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0009027
4	tibialis muscle weakness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008963
5	shoulder girdle muscle weakness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003547
6	increased endomysial connective tissue ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0100297
7	emg: myopathic abnormalities ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003458
8	scapular winging ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003691
9	pes cavus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001761
10	steppage gait ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003376
11	difficulty walking ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002355
12	centrally nucleated skeletal muscle fibers ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003687
13	shoulder girdle muscle atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003724
14	hand muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0030237
15	upper limb amyotrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009129
16	decreased achilles reflex ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009072
17	decreased patellar reflex ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011808
18	intellectual disability ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001249
19	pes planus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001763
20	arrhythmia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011675
21	hyperlordosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003307
22	hypertension ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000822
23	proximal lower limb amyotrophy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0008956
24	abnormal cardiac septum morphology ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001671
25	facial palsy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010628
26	muscle spasm ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003394
27	left ventricular dysfunction ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005162
28	heart murmur ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0030148
29	muscle fiber splitting ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003555
30	limited neck flexion ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005991
31	myopathic facies ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002058
32	limited hip movement ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0008800
33	limited wrist extension ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006251
34	limited shoulder movement ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006467
35	abnormality of the foot musculature ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001436
36	enlargement of the ankles ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003029
37	triceps weakness ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0031108
38	left anterior fascicular block ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011711
39	beevor's sign ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0030664
40	limitation of movement at ankles ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010505
41	chronic pulmonary obstruction ³¹	occasional (7.5%)		HP:0006510
42	gait disturbance ⁵⁸		Occasional (29-5%)
43	abnormality of the cardiovascular system ⁵⁸		Occasional (29-5%)
44	reduced tendon reflexes ⁵⁸		Frequent (79-30%)
45	chronic obstructive pulmonary disease ⁵⁸		Occasional (29-5%)
46	distal lower limb muscle weakness ⁵⁸		Occasional (29-5%)
47	upper limb muscle weakness ⁵⁸		Occasional (29-5%)
48	weakness of facial musculature ³¹			HP:0030319
49	scapuloperoneal myopathy ³¹			HP:0009054

Symptoms via clinical synopsis from OMIM:

⁵⁶

Misc:
slow progression

Lab:
myopathic electromyography and muscle biopsy

Muscle:
scapuloperoneal myopathy
facial myopathy

Clinical features from OMIM:

181430

UMLS symptoms related to Scapuloperoneal Myopathy, Myh7-Related:

waddling gait

Sources

Drugs & Therapeutics for Scapuloperoneal Myopathy, Myh7-Related

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Randomized Study of Self Gripping Semi-resorbable Mesh (PROGRIP) With Polypropylene Mesh in Open Inguinal Hernia Repair - the 6 Years Result	Completed	NCT00960011

Search 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	Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy ²⁹

Sources

Anatomical Context for Scapuloperoneal Myopathy, Myh7-Related

MalaCards organs/tissues related to Scapuloperoneal Myopathy, Myh7-Related:

⁴⁰

Heart, Skeletal Muscle, Pituitary

Sources

Publications for Scapuloperoneal Myopathy, Myh7-Related

Articles related to Scapuloperoneal Myopathy, Myh7-Related:

(show all 21)

#	Title	Authors	PMID	Year
1	MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. ⁶ ⁵⁶	Pegoraro E...Angelini C	17336526	2007
2	Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. ⁶	Armel TZ...Leinwand LA	19336582	2009
3	Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. ⁶	Laing NG...Goebel HH	15699387	2005
4	Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. ⁶	Tajsharghi H...Oldfors A	14520662	2003
5	Pathological and genetic analysis of the degenerating muscle (dmu) mouse: a new allele of Scn8a. ⁵⁶	De Repentigny Y...Kothary R	11532991	2001
6	Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus. ⁵⁶	Tawil R...Griggs RC	7487558	1995
7	Adult onset scapuloperoneal myopathy. ⁵⁶	Thomas PK...Morgan-Hughes JA	1202162	1975
8	[Scapulo-peroneal myopathies 14 cases including 8 with facial involvement]. ⁵⁶	Serratrice G...Baret J	4311337	1969
9	The differential diagnosis of the myogenic (facio)-scapulo-peroneal syndrome. ⁵⁶	Ricker K...Mertens HG	5696602	1968
10	Primary Meningeal Melanocytoma in Sellar Region, Simulating a Nonfunctioning Pituitary Adenoma: Case Report and Literature Review. ⁶¹	Wang F...Ling S	29382618	2018
11	[Cytokines in surgery for pulmonary tuberculosis]. ⁶¹	Belov SA...Grigoryuk AA	29652321	2018
12	SPMM: estimating infection duration of multivariant HIV-1 infections. ⁶¹	Love TM...Lee HY	26722117	2016
13	Using a shared parameter mixture model to estimate change during treatment when termination is related to recovery speed. ⁶¹	Gottfredson NC...Okiishi JC	24274626	2014
14	Novel amphiphilic polymeric ionic liquid-solid phase micro-extraction membrane for the preconcentration of aniline as degradation product of azo dye Orange G under sonication by liquid chromatography-tandem mass spectrometry. ⁶¹	Cai MQ...Jin MC	24857038	2014
15	Modeling Change in the Presence of Non-Randomly Missing Data: Evaluating A Shared Parameter Mixture Model. ⁶¹	Gottfredson NC...Baldwin SA	25013354	2014
16	Combined biaxial and uniaxial mechanical characterization of prosthetic meshes in a rabbit model. ⁶¹	Rohrnbauer B...Mazza E	23672949	2013
17	A non-biological model system to simulate the in vivo mechanical behavior of prosthetic meshes. ⁶¹	Rohrnbauer B...Mazza E	23507263	2013
18	Tensile strength and host response towards different polypropylene implant materials used for augmentation of fascial repair in a rat model. ⁶¹	Konstantinovic ML...Deprest J	17031489	2007
19	K-SPMM: a database of murine spermatogenic promoters modules & motifs. ⁶¹	Lu Y...Krawetz SA	16670029	2006
20	Direct and indirect "cortico"-rubral and rubro-cerebellar cortical projections in the pigeon. ⁶¹	Wild JM	1282921	1992
21	The junctional pattern of the human villous trophoblast. A freeze-fracture study. ⁶¹	de Virgiliis G...Remotti G	7173727	1982

Sources

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	1567.55	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	14520662 15699387 17336526 (more) 19336582

Sources

Variations for Scapuloperoneal Myopathy, Myh7-Related

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

⁶ (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MYH7	NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)	SNV	Pathogenic	14102	rs3218714	14:23898488-23898488	14:23429279-23429279
2	MYH7	NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp)	SNV	Pathogenic	14114	rs28933098	14:23884230-23884230	14:23415021-23415021
3	MYH7	NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)	SNV	Pathogenic	14125	rs267606908	14:23893321-23893321	14:23424112-23424112
4	MYH7	NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	SNV	Pathogenic	42875	rs371898076	14:23896042-23896042	14:23426833-23426833
5	MYH7	NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	SNV	Pathogenic/Likely pathogenic	42901	rs3218716	14:23894525-23894525	14:23425316-23425316
6	MYH7	NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)	SNV	Pathogenic/Likely pathogenic	43100	rs397516264	14:23900811-23900811	14:23431602-23431602
7	MYH7	NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)	SNV	Pathogenic/Likely pathogenic	164312	rs397516171	14:23893250-23893250	14:23424041-23424041
8	MYH7	NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	SNV	Pathogenic/Likely pathogenic	14088	rs3218713	14:23900677-23900677	14:23431468-23431468
9	MYH7	NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	SNV	Pathogenic/Likely pathogenic	14092	rs121913628	14:23893268-23893268	14:23424059-23424059
10	MYH7	NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)	SNV	Pathogenic/Likely pathogenic	42874	rs397516127	14:23896043-23896043	14:23426834-23426834
11	MYH7	NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)	SNV	Likely pathogenic	181207	rs730880761	14:23893234-23893234	14:23424025-23424025
12	MYH7	NM_000257.4(MYH7):c.1544T>C (p.Met515Thr)	SNV	Likely pathogenic	216968	rs863224900	14:23897743-23897743	14:23428534-23428534
13	MYH7	NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)	SNV	Conflicting interpretations of pathogenicity	43117	rs372731424	14:23899792-23899792	14:23430583-23430583
14	MYH7	NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)	SNV	Conflicting interpretations of pathogenicity	179272	rs727504753	14:23898554-23898554	14:23429345-23429345
15	MYH7	NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)	SNV	Uncertain significance	177629	rs369437262	14:23884437-23884437	14:23415228-23415228
16	MYH7	NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg)	SNV	Uncertain significance	42966	rs397516188	14:23889170-23889170	14:23419961-23419961
17	MYH7	NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln)	SNV	Uncertain significance	42976	rs397516195	14:23888715-23888715	14:23419506-23419506
18	MYH7	NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr)	SNV	Uncertain significance	42985	rs372727092	14:23887606-23887606	14:23418397-23418397
19	MYH7	NM_000257.4(MYH7):c.5774G>A (p.Arg1925His)	SNV	Uncertain significance	407171	rs752553589	14:23882984-23882984	14:23413775-23413775
20	MYH7	NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)	SNV	Uncertain significance	36641	rs141764279	14:23887607-23887607	14:23418398-23418398
21	MYH7	NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala)	SNV	Uncertain significance	42858	rs397516119	14:23897052-23897052	14:23427843-23427843

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

⁷³

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

Sources

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

Sources

Sources for Scapuloperoneal Myopathy, Myh7-Related

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⁸ Cochrane Library

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¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Scapuloperoneal Myopathy, Myh7-Related (SPMM)

Aliases & Classifications for Scapuloperoneal Myopathy, Myh7-Related

MalaCards integrated aliases for Scapuloperoneal Myopathy, Myh7-Related:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Scapuloperoneal Myopathy, Myh7-Related

Related Diseases for Scapuloperoneal Myopathy, Myh7-Related

Diseases in the Scapuloperoneal Myopathy family:

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

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

Symptoms & Phenotypes for Scapuloperoneal Myopathy, Myh7-Related

Human phenotypes related to Scapuloperoneal Myopathy, Myh7-Related:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Scapuloperoneal Myopathy, Myh7-Related:

Drugs & Therapeutics for Scapuloperoneal Myopathy, Myh7-Related

Interventional clinical trials:

Genetic Tests for Scapuloperoneal Myopathy, Myh7-Related

Genetic tests related to Scapuloperoneal Myopathy, Myh7-Related:

Anatomical Context for Scapuloperoneal Myopathy, Myh7-Related

MalaCards organs/tissues related to Scapuloperoneal Myopathy, Myh7-Related:

Publications for Scapuloperoneal Myopathy, Myh7-Related

Articles related to Scapuloperoneal Myopathy, Myh7-Related:

Genes for Scapuloperoneal Myopathy, Myh7-Related

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

Variations for Scapuloperoneal Myopathy, Myh7-Related

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

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

Expression for Scapuloperoneal Myopathy, Myh7-Related

Pathways for Scapuloperoneal Myopathy, Myh7-Related

GO Terms for Scapuloperoneal Myopathy, Myh7-Related

Sources for Scapuloperoneal Myopathy, Myh7-Related