MCID: MYT025
MIFTS: 12

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 57
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome 59
Xq28 Contiguous Gene Deletion Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
x-linked myotubular myopathy-abnormal genitalia syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

OMIM 57 300219
Orphanet 59 ORPHA456328
MedGen 42 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 MAMLD1 (Mastermind Like Domain Containing 1).

More information 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

Articles related to Myotubular Myopathy with Abnormal Genital Development:

# Title Authors PMID Year
1
The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case. 8
10449925 1999
2
Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. 8
9169146 1997
3
Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region. 8
8789451 1996
4
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers. 38
27017278 2016

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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