MCID: MYT025
MIFTS: 17

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 56
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome 58
Xq28 Contiguous Gene Deletion Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
x-linked myotubular myopathy-abnormal genitalia syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Myotubular Myopathy with Abnormal Genital Development

MalaCards based summary : Myotubular Myopathy with Abnormal Genital Development, also known as x-linked myotubular myopathy-abnormal genitalia syndrome, is related to centronuclear myopathy. An important gene associated with Myotubular Myopathy with Abnormal Genital Development is MAMLD1 (Mastermind Like Domain Containing 1). Related phenotypes are generalized hypotonia and cryptorchidism

More information from OMIM: 300219

Related Diseases for Myotubular Myopathy with Abnormal Genital Development

Diseases related to Myotubular Myopathy with Abnormal Genital Development via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 centronuclear myopathy 9.2 MTM1 MAMLD1

Symptoms & Phenotypes for Myotubular Myopathy with Abnormal Genital Development

Human phenotypes related to Myotubular Myopathy with Abnormal Genital Development:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001290
2 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
3 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
4 micropenis 58 31 frequent (33%) Frequent (79-30%) HP:0000054
5 bifid scrotum 58 31 frequent (33%) Frequent (79-30%) HP:0000048
6 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
7 glandular hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000807
8 penoscrotal hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000808
9 penile hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0003244
10 blind vagina 58 31 frequent (33%) Frequent (79-30%) HP:0040314
11 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
12 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
13 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
14 joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001382
15 thin ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000883

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. 56
10449925 1999
2
Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. 56
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. 56
8789451 1996
4
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers. 61
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 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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