MCID: ZBR001
MIFTS: 17

Zebra Body Myopathy

Categories: Neuronal diseases, Rare diseases

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:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G71.2
UMLS via Orphanet 72 C0270969
Orphanet 58 ORPHA97240
UMLS 71 C0270969

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 global developmental delay and neonatal hypotonia

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
3 hypotonia 10.0

Symptoms & Phenotypes for Zebra Body Myopathy

Human phenotypes related to Zebra Body Myopathy:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
3 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
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 facial palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0010628
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 myofibrillar myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003715
13 distal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002460
14 axial muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003327
15 neck muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000467
16 gowers sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003391
17 difficulty climbing stairs 58 31 hallmark (90%) Very frequent (99-80%) HP:0003551
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 handgrip myotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012899
21 muscle fiber necrosis 58 31 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

MalaCards organs/tissues related to Zebra Body Myopathy:

40
Skeletal Muscle

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
25747004 2015
2
Congenital myopathies. 61
17885449 2007
3
[Zebra body myopathy]. 61
11555981 2001
4
Zebra body myopathy: a second case of ultrastructurally distinct congenital myopathy. 61
2821096 1987
5
Congenital myopathies with "diagnostic" pathological features. 61
3323392 1987
6
Zebra body myopathy. Clinical, histochemical and ultrastructural studies. 61
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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