MCID: DPL003
MIFTS: 17

Diploid-Triploid Mosaicism malady

Categories: Rare diseases, Ear diseases, Metabolic diseases

Aliases & Classifications for Diploid-Triploid Mosaicism

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Aliases & Descriptions for Diploid-Triploid Mosaicism:

Name: Diploid-Triploid Mosaicism 45 65
Growth Retardation, Truncal Obesity, Facial Asymmetry, Hypotonia, Small Phallus, Malformed Low-Set Ears and Micrognathia 45
Diploid/triploid Mixoploidy 45
 
Diploid/triploid Mosaicism 45
Mosaic Triploidy 45

Classifications:



External Ids:

UMLS65 C2932665

Summaries for Diploid-Triploid Mosaicism

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NIH Rare Diseases:45 Diploid-triploid mosaicism is a chromosome disorder.  individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells).  having two or more different cell types is called mosaicism. diploid-triploid mosaicism can be associated with  truncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth, mild differences in facial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation.   intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe.  the chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells.  last updated: 3/22/2010

MalaCards based summary: Diploid-Triploid Mosaicism, also known as growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia, is related to follicular lymphoma and adenocarcinoma. Affiliated tissues include skin, brain and t cells.

Related Diseases for Diploid-Triploid Mosaicism

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Diseases related to Diploid-Triploid Mosaicism via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1follicular lymphoma10.6
2adenocarcinoma10.6
3rheumatoid arthritis10.5
4chondrosarcoma10.5
5sickle cell anemia10.5
6wilson disease10.5
7arthritis10.5
8lymphoma10.5
9oligohydramnios10.5
10renal osteodystrophy10.5
11cerebritis10.5
12kidney disease10.5
13myxoid chondrosarcoma10.5
14measles10.5
15thymic hyperplasia10.5
16aneurysm10.5
17cerebral aneurysms10.5

Graphical network of diseases related to Diploid-Triploid Mosaicism:



Diseases related to diploid-triploid mosaicism

Symptoms for Diploid-Triploid Mosaicism

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Drugs & Therapeutics for Diploid-Triploid Mosaicism

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Diploid-Triploid Mosaicism

Genetic Tests for Diploid-Triploid Mosaicism

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Anatomical Context for Diploid-Triploid Mosaicism

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MalaCards organs/tissues related to Diploid-Triploid Mosaicism:

33
Skin, Brain, T cells, Neutrophil

Animal Models for Diploid-Triploid Mosaicism or affiliated genes

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Publications for Diploid-Triploid Mosaicism

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Articles related to Diploid-Triploid Mosaicism:

(show all 15)
idTitleAuthorsYear
1
Morphological changes in membranoproliferative glomerulonephritis - a quantitative approach. (26743276)
2015
2
In vivo cardiovascular magnetic resonance diffusion tensor imaging shows evidence of abnormal myocardial laminar orientations and mobility in hypertrophic cardiomyopathy. (25388867)
2014
3
Combination therapy with intralesional triamcinolone and oral dapsone for management of palisaded neutrophilic and granulomatous dermatitis. (23473287)
2013
4
Diabetes: Pre-eclampsia: association with increased risk of diabetes. (23649017)
2013
5
Promoter hypomethylation of TIMP3 is associated with pre-eclampsia in a Chinese population. (23172037)
2013
6
PI3K pathway activation provides a novel therapeutic target for pediatric ependymoma and is an independent marker of progression-free survival. (24077346)
2013
7
Do classification criteria of Takayasu arteritis misdiagnose children with fibromuscular dysplasia? (20066441)
2010
8
Primary rhabdomyosarcoma of the sacrum: a case report and review of the literature. (18421456)
2008
9
Use of propensity score technique to account for exposure-related covariates: an example and lesson. (17909373)
2007
10
Recruitment of replication protein A by the papillomavirus E1 protein and modulation by single-stranded DNA. (14747526)
2004
11
Caspase-9 activation and caspase cleavage of tau in the Alzheimer's disease brain. (12505426)
2002
12
Glomerulonephritis induced by recombinant collagen IV alpha 3 chain noncollagen domain 1 is not associated with glomerular basement membrane antibody: a potential T cell-mediated mechanism. (11490029)
2001
13
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. (11381255)
2001
14
Kinetics of circulating adhesion molecules and chemokines after mechanical trauma and burns. (8934104)
1996
15
Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy. (8101083)
1993

Variations for Diploid-Triploid Mosaicism

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Expression for genes affiliated with Diploid-Triploid Mosaicism

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Search GEO for disease gene expression data for Diploid-Triploid Mosaicism.

Pathways for genes affiliated with Diploid-Triploid Mosaicism

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GO Terms for genes affiliated with Diploid-Triploid Mosaicism

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Sources for Diploid-Triploid Mosaicism

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet