MCID: ZBR001
MIFTS: 18

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 59 73

Characteristics:

Orphanet epidemiological data:

59
zebra body myopathy
Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA97240
UMLS via Orphanet 74 C0270969
ICD10 via Orphanet 34 G71.2
UMLS 73 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 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 10.2
2 myopathy, congenital 9.9

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 nemaline bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003798
6 decreased fetal movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0001558
7 torticollis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000473
8 neck muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000467
9 distal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002460
10 myofibrillar myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003715
11 rimmed vacuoles 59 32 hallmark (90%) Very frequent (99-80%) HP:0003805
12 difficulty climbing stairs 59 32 hallmark (90%) Very frequent (99-80%) HP:0003551
13 waddling gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002515
14 axial muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003327
15 autophagic vacuoles 59 32 hallmark (90%) Very frequent (99-80%) HP:0003736
16 gowers sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003391
17 limb-girdle muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006785
18 muscle fiber splitting 59 32 hallmark (90%) Very frequent (99-80%) HP:0003555
19 handgrip myotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0012899
20 muscle fiber necrosis 59 32 frequent (33%) Frequent (79-30%) HP:0003713
21 proximal muscle weakness 59 Very frequent (99-80%)
22 emg: myopathic abnormalities 59 Very frequent (99-80%)
23 emg 32 hallmark (90%) HP:0003458

Drugs & Therapeutics for Zebra Body Myopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search 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:

41
Skeletal Muscle

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 )
2015
2
Zebra body myopathy: a second case of ultrastructurally distinct congenital myopathy. ( 2821096 )
1987
3
Zebra body myopathy. Clinical, histochemical and ultrastructural studies. ( 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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