Zebra Body Myopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Zebra Body Myopathy

MalaCards integrated aliases for Zebra Body Myopathy:

Name: Zebra Body Myopathy ⁵⁸ ⁷¹

Characteristics:

Orphanet epidemiological data:

⁵⁸

zebra body myopathy
Prevalence: <1/1000000 (Worldwide);

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³³ G71.2

UMLS via Orphanet ⁷² C0270969

Orphanet ⁵⁸ ORPHA97240

SNOMED-CT via HPO ⁶⁸ 193093009 205294008 224958001 more

UMLS ⁷¹ C0270969

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Summaries for Zebra Body Myopathy

MalaCards based summary : Zebra Body Myopathy is related to myopathy and myopathy, congenital. An important gene associated with Zebra Body Myopathy is ACTA1 (Actin Alpha 1, Skeletal Muscle). Affiliated tissues include skeletal muscle, and related phenotypes are facial palsy and global developmental delay

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Related Diseases for Zebra Body Myopathy

Diseases related to Zebra Body Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	myopathy	10.3
2	myopathy, congenital	10.0
3	hypotonia	10.0

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Symptoms & Phenotypes for Zebra Body Myopathy

Human phenotypes related to Zebra Body Myopathy:

⁵⁸ ³¹ (show all 23)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	facial palsy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010628
2	global developmental delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001263
3	neonatal hypotonia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001319
4	limb-girdle muscular dystrophy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0006785
5	waddling gait ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002515
6	emg: myopathic abnormalities ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003458
7	rimmed vacuoles ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003805
8	nemaline bodies ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003798
9	handgrip myotonia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0012899
10	decreased fetal movement ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001558
11	torticollis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000473
12	axial muscle weakness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003327
13	neck muscle weakness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000467
14	gowers sign ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003391
15	difficulty climbing stairs ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003551
16	distal muscle weakness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002460
17	myofibrillar myopathy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003715
18	muscle fiber splitting ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003555
19	autophagic vacuoles ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003736
20	elevated serum creatine kinase ³¹	hallmark (90%)		HP:0003236
21	muscle fiber necrosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003713
22	elevated serum creatine phosphokinase ⁵⁸		Very frequent (99-80%)
23	proximal muscle weakness ⁵⁸		Very frequent (99-80%)

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Drugs & Therapeutics for Zebra Body Myopathy

Search Clinical Trials , NIH Clinical Center for Zebra Body Myopathy

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Genetic Tests for Zebra Body Myopathy

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Anatomical Context for Zebra Body Myopathy

MalaCards organs/tissues related to Zebra Body Myopathy:

⁴⁰

Skeletal Muscle

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Publications for Zebra Body Myopathy

Articles related to Zebra Body Myopathy:

#	Title	Authors	PMID	Year
1	Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1). ⁶¹	Sewry CA...Hanna MG	25747004	2015
2	Congenital myopathies. ⁶¹	Laing NG	17885449	2007
3	[Zebra body myopathy]. ⁶¹	Wakayama Y	11555981	2001
4	Zebra body myopathy: a second case of ultrastructurally distinct congenital myopathy. ⁶¹	Reyes MG...Bouffard A	2821096	1987
5	Congenital myopathies with "diagnostic" pathological features. ⁶¹	Korenyi-Both A...Korenyi-Both I	3323392	1987
6	Zebra body myopathy. Clinical, histochemical and ultrastructural studies. ⁶¹	Lake BD...Wilson J	163896	1975

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Genes for Zebra Body Myopathy

Genes related to Zebra Body Myopathy (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	357.11	Causative germline mutation ⁵⁸ GeneCards inferred via : Publications (show sections)

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Variations for Zebra Body Myopathy

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Expression for Zebra Body Myopathy

Search GEO for disease gene expression data for Zebra Body Myopathy.

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Pathways for Zebra Body Myopathy

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GO Terms for Zebra Body Myopathy

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Sources for Zebra Body Myopathy

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