MCID: MYT025
MIFTS: 10

Myotubular Myopathy with Abnormal Genital Development

Categories: Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Myotubular Myopathy with Abnormal Genital Development

MalaCards integrated aliases for Myotubular Myopathy with Abnormal Genital Development:

Name: Myotubular Myopathy with Abnormal Genital Development 58
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome 60
Xq28 Contiguous Gene Deletion Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
x-linked myotubular myopathy-abnormal genitalia syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

OMIM 58 300219
Orphanet 60 ORPHA456328
MedGen 43 C1846169

Summaries for Myotubular Myopathy with Abnormal Genital Development

MalaCards based summary : Myotubular Myopathy with Abnormal Genital Development, is also known as x-linked myotubular myopathy-abnormal genitalia syndrome. An important gene associated with Myotubular Myopathy with Abnormal Genital Development is MTM1 (Myotubularin 1).

Description from OMIM: 300219

Related Diseases for Myotubular Myopathy with Abnormal Genital Development

Symptoms & Phenotypes for Myotubular Myopathy with Abnormal Genital Development

Clinical features from OMIM:

300219

Drugs & Therapeutics for Myotubular Myopathy with Abnormal Genital Development

Search Clinical Trials , NIH Clinical Center for Myotubular Myopathy with Abnormal Genital Development

Genetic Tests for Myotubular Myopathy with Abnormal Genital Development

Anatomical Context for Myotubular Myopathy with Abnormal Genital Development

Publications for Myotubular Myopathy with Abnormal Genital Development

Variations for Myotubular Myopathy with Abnormal Genital Development

Expression for Myotubular Myopathy with Abnormal Genital Development

Search GEO for disease gene expression data for Myotubular Myopathy with Abnormal Genital Development.

Pathways for Myotubular Myopathy with Abnormal Genital Development

GO Terms for Myotubular Myopathy with Abnormal Genital Development

Sources for Myotubular Myopathy with Abnormal Genital Development

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....