Scapuloperoneal Myopathy, X-Linked Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Aliases & Classifications for Scapuloperoneal Myopathy, X-Linked Dominant

Sources:
¹²diseasecard, ²⁴GeneTests, ²⁷GTR, ³¹ICD10 via Orphanet, ³⁷MedGen, ³⁹MeSH, ⁴⁸NIH Rare Diseases, ⁵²OMIM, ⁵⁴Orphanet, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Scapuloperoneal Myopathy, X-Linked Dominant:

Name: Scapuloperoneal Myopathy, X-Linked Dominant ⁵² ⁴⁸ ²⁴ ⁷⁰ ¹² ⁶⁸

Spm ⁴⁸ ²⁴ ⁷⁰

X-Linked Dominant Scapuloperoneal Myopathy ⁴⁸ ²⁷

X-Linked Scapuloperoneal Muscular Dystrophy ⁵⁴

X-Linked Emery-Dreifuss Muscular Dystrophy ⁶⁸

Scapuloperoneal Myopathy, Fhl1-Related ⁴⁸

Scapuloperoneal Myopathy Fhl1-Related ⁷⁰

X-Linked Scapuloperoneal Syndrome ⁵⁴

X-Linked Spmd ⁵⁴

Characteristics:

Orphanet epidemiological data:

⁵⁴

x-linked scapuloperoneal muscular dystrophy:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult

HPO:

⁶⁴

scapuloperoneal myopathy, x-linked dominant:
Inheritance: x-linked dominant inheritance
Onset and clinical course: adult onset

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Muscular dystrophy

Orphanet: ⁵⁴

Rare neurological diseases

External Ids:

OMIM⁵² 300695

Orphanet⁵⁴ ORPHA431272

ICD10 via Orphanet³¹ G71.0

MedGen³⁷ C2678061

MeSH³⁹ D020389

Summaries for Scapuloperoneal Myopathy, X-Linked Dominant

Sources:
³⁶MalaCards, ⁴⁸NIH Rare Diseases, ⁵²OMIM, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

NIH Rare Diseases:⁴⁸ X-linked 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 fhl1 gene. these cases are inherited in an x-linked dominant manner. treatment is symptomatic and supportive. last updated: 8/9/2012

MalaCards based summary: Scapuloperoneal Myopathy, X-Linked Dominant, also known as SPM, is related to secondary progressive multiple sclerosis and emd-related emery-dreifuss muscular dystrophy, x-linked, and has symptoms including waddling gait, waddling gait and waddling gait. An important gene associated with Scapuloperoneal Myopathy, X-Linked Dominant is FHL1 (Four And A Half LIM Domains 1). Affiliated tissues include skeletal muscle, and related mouse phenotype muscle.

UniProtKB/Swiss-Prot:⁷⁰ Scapuloperoneal myopathy, X-linked dominant: A disease characterized by progressive muscle weakness and wasting, upper and lower limbs weakness, foot drop, scapular winging, and myopathic changes on muscle biopsy. Most affected individuals become wheelchair-bound.

Description from OMIM:⁵² 300695

Related Diseases for Scapuloperoneal Myopathy, X-Linked Dominant

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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Diseases related to Scapuloperoneal Myopathy, X-Linked Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)

id	Related Disease	Score	Top Affiliating Genes
1	secondary progressive multiple sclerosis	11.2
2	emd-related emery-dreifuss muscular dystrophy, x-linked	11.1
3	pick disease	10.1
4	niemann-pick disease	10.1
5	scapuloperoneal myopathy	10.1
6	myopathy	10.1
7	exocrine pancreatic insufficiency	9.9	EMD, FHL1
8	reducing body myopathy, x-linked 1a, severe, infantile or early childhood onset	9.8	EMD, FHL1
9	spindle cell sarcoma	9.8	EMD, FHL1
10	dementia	9.8
11	cerebritis	9.8
12	dowling-degos disease	9.8	EMD, FHL1
13	parametrium malignant neoplasm	9.7	EMD, FHL1
14	essential tremor	9.7
15	parametritis	9.7
16	epilepsy	9.7
17	herpes simplex	9.7
18	encephalitis	9.7
19	charles bonnet syndrome	9.7
20	cerebral atrophy	9.7
21	tremor	9.7

Graphical network of the top 20 diseases related to Scapuloperoneal Myopathy, X-Linked Dominant:

Symptoms & Phenotypes for Scapuloperoneal Myopathy, X-Linked Dominant

Sources:
⁴¹MGI, ⁵²OMIM, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS
See all MalaCards sources

Symptoms by clinical synopsis from OMIM:

300695

Clinical features from OMIM:

300695

Human phenotypes related to Scapuloperoneal Myopathy, X-Linked Dominant:

⁶⁴ (show all 12)

id	Description	HPO Source Accession
1	hyporeflexia⁶⁴	HP:0001265
2	flexion contracture⁶⁴	HP:0001371
3	waddling gait⁶⁴	HP:0002515
4	skeletal muscle atrophy⁶⁴	HP:0003202
5	elevated serum creatine phosphokinase⁶⁴	HP:0003236
6	steppage gait⁶⁴	HP:0003376
7	scapular winging⁶⁴	HP:0003691
8	myofibrillar myopathy⁶⁴	HP:0003715
9	lower limb muscle weakness⁶⁴	HP:0007340
10	foot dorsiflexor weakness⁶⁴	HP:0009027
11	scapuloperoneal myopathy⁶⁴	HP:0009054
12	arrhythmia⁶⁴	HP:0011675

UMLS symptoms related to Scapuloperoneal Myopathy, X-Linked Dominant:

waddling gait, lower limb muscle weakness

MGI Mouse Phenotypes related to Scapuloperoneal Myopathy, X-Linked Dominant according to GeneCards Suite gene sharing:

⁴¹

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	9.1	EMD, FHL1

Drugs & Therapeutics for Scapuloperoneal Myopathy, X-Linked Dominant

Sources:
⁴ClinicalTrials
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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Scapuloperoneal Myopathy, X-Linked Dominant

Genetic Tests for Scapuloperoneal Myopathy, X-Linked Dominant

Sources:
²⁴GeneTests, ²⁷GTR
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Genetic tests related to Scapuloperoneal Myopathy, X-Linked Dominant:

id	Genetic test	Affiliating Genes
1	Scapuloperoneal Myopathy, X-Linked Dominant²⁷ ²⁴	FHL1

Anatomical Context for Scapuloperoneal Myopathy, X-Linked Dominant

Sources:
³⁶MalaCards
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MalaCards organs/tissues related to Scapuloperoneal Myopathy, X-Linked Dominant:

³⁶

Skeletal muscle

Publications for Scapuloperoneal Myopathy, X-Linked Dominant

Genes related to Scapuloperoneal Myopathy, X-Linked Dominant

Sources:
⁵Clinvar, ²¹GeneCards, ²⁴GeneTests, ⁵²OMIM, ⁵⁴Orphanet, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

Genes related to Scapuloperoneal Myopathy, X-Linked Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	FHL1	Four And A Half LIM Domains 1	1680.05	Molecular basis known ⁵² Pathogenic ⁵ Causative germline mutation ⁵⁴ Causative variation ⁷⁰ Genetic Tests ²⁴ GeneCards inferred via : Disorders, Variants (show sections)	18179901, 19181672, 25274776 more 25173338, 18179888, 21629301
2	EMD	Emerin	19.09	GeneCards inferred via : Disorders (show sections)

Variations for Scapuloperoneal Myopathy, X-Linked Dominant

Sources:
⁵Clinvar, ⁹dbSNP, ⁷⁰UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Myopathy, X-Linked Dominant:

⁷⁰

id	Symbol	AA change	Variation ID	SNP ID
1	FHL1	p.Trp122Ser	VAR_042603	rs122458140
2	FHL1	p.His154Pro	VAR_076566

Clinvar genetic disease variations for Scapuloperoneal Myopathy, X-Linked Dominant:

⁵

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	FHL1	NM_ 001159702.2(FHL1): c.365G> C (p.Trp122Ser)	SNV	Pathogenic	rs122458140	GRCh37	Chr X, 135289984: 135289984
2	FHL1	FHL1, 3-BP INS, 381ATC	insertion	Pathogenic