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

Orphanet: ⁵⁸ Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved.

MalaCards based summary: Zebra Body Myopathy is related to myopathy and nemaline myopathy 3. 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	nemaline myopathy 3	10.0
3	batten-turner congenital myopathy	10.0
4	muscular dystrophy, becker type	10.0
5	hypotonia	10.0

Graphical network of the top 20 diseases related to Zebra Body Myopathy:

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Symptoms & Phenotypes for Zebra Body Myopathy

Human phenotypes related to Zebra Body Myopathy:

⁵⁸ ³⁰ (show all 22)

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

Organs/tissues related to Zebra Body Myopathy:

MalaCards : Skeletal Muscle

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Publications for Zebra Body Myopathy

Articles related to Zebra Body Myopathy:

#	Title	Authors	PMID	Year
1	Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations. ⁶²	Santhoshkumar R...Narayanappa G	35562161	2022
2	Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1). ⁶²	Sewry CA...Hanna MG	25747004	2015
3	Congenital myopathies. ⁶²	Laing NG	17885449	2007
4	[Zebra body myopathy]. ⁶²	Wakayama Y	11555981	2001
5	Zebra body myopathy: a second case of ultrastructurally distinct congenital myopathy. ⁶²	Reyes MG...Bouffard A	2821096	1987
6	Congenital myopathies with "diagnostic" pathological features. ⁶²	Korenyi-Both A...Korenyi-Both I	3323392	1987
7	Zebra body myopathy. Clinical, histochemical and ultrastructural studies. ⁶²	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	PubMed IDs
1	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	350	Causative germline mutation ⁵⁸	25747004

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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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MCID: ZBR001 MIFTS: 18	Zebra Body Myopathy Categories: Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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