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 ⁵⁹ ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

Orphanet ⁵⁹ ORPHA97240

UMLS via Orphanet ⁷⁴ C0270969

ICD10 via Orphanet ³⁴ G71.2

SNOMED-CT via HPO ⁶⁹ 270476009 70070008 74333002 more

UMLS ⁷³ 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	Top Affiliating Genes
1	myopathy	10.3
2	myopathy, congenital	10.0

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Symptoms & Phenotypes for Zebra Body Myopathy

Human phenotypes related to Zebra Body Myopathy:

⁵⁹ ³² (show all 23)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	facial palsy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0010628
2	global developmental delay ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001263
3	neonatal hypotonia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001319
4	elevated serum creatine phosphokinase ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003236
5	limb-girdle muscular dystrophy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0006785
6	waddling gait ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002515
7	rimmed vacuoles ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003805
8	nemaline bodies ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003798
9	handgrip myotonia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0012899
10	decreased fetal movement ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001558
11	torticollis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000473
12	axial muscle weakness ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003327
13	neck muscle weakness ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000467
14	gowers sign ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003391
15	difficulty climbing stairs ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003551
16	distal muscle weakness ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002460
17	myofibrillar myopathy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003715
18	muscle fiber splitting ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003555
19	autophagic vacuoles ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003736
20	muscle fiber necrosis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003713
21	emg: myopathic abnormalities ⁵⁹		Very frequent (99-80%)
22	proximal muscle weakness ⁵⁹		Very frequent (99-80%)
23	emg ³²	hallmark (90%)		HP:0003458

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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:

⁴¹

Skeletal Muscle

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Publications for Zebra Body Myopathy

Articles related to Zebra Body Myopathy:

#	Title	Authors	Year
1	Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1). ( 25747004 )	Sewry C.A....Hanna M.G.	2015
2	Zebra body myopathy: a second case of ultrastructurally distinct congenital myopathy. ( 2821096 )	Reyes M.G....Bouffard A.	1987
3	Zebra body myopathy. Clinical, histochemical and ultrastructural studies. ( 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	367.13	Causative germline mutation ⁵⁹ 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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