MCID: ZBR001
MIFTS: 18

Zebra Body Myopathy

Categories: Neuronal diseases, Rare diseases
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Aliases & Classifications for Zebra Body Myopathy

MalaCards integrated aliases for Zebra Body Myopathy:

Name: Zebra Body Myopathy 58 71

Characteristics:


Prevelance:

<1/1000000 (Worldwide) 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 32 G71.2
UMLS via Orphanet 72 C0270969
Orphanet 58 ORPHA97240
UMLS 71 C0270969

Summaries for Zebra Body Myopathy

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

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 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:



Diseases related to Zebra Body Myopathy

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%)

Drugs & Therapeutics for Zebra Body Myopathy

Search Clinical Trials, NIH Clinical Center for Zebra Body Myopathy

Genetic Tests for Zebra Body Myopathy

Anatomical Context for Zebra Body Myopathy

Organs/tissues related to Zebra Body Myopathy:

MalaCards : Skeletal Muscle

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
35562161 2022
2
Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1). 62
25747004 2015
3
Congenital myopathies. 62
17885449 2007
4
[Zebra body myopathy]. 62
11555981 2001
5
Zebra body myopathy: a second case of ultrastructurally distinct congenital myopathy. 62
2821096 1987
6
Congenital myopathies with "diagnostic" pathological features. 62
3323392 1987
7
Zebra body myopathy. Clinical, histochemical and ultrastructural studies. 62
163896 1975

Variations for Zebra Body Myopathy

Expression for Zebra Body Myopathy

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

Pathways for Zebra Body Myopathy

GO Terms for Zebra Body Myopathy

Sources for Zebra Body Myopathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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