MCID: DPL003
MIFTS: 11

Diploid-Triploid Mosaicism malady

Ear diseases, Metabolic diseases categories

Summaries for Diploid-Triploid Mosaicism

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 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: Diploid-Triploid Mosaicism, also known as growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia, is related to cohen syndrome and mosaic trisomy 6. Affiliated tissues include skin.

Aliases & Classifications for Diploid-Triploid Mosaicism

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Sources:
42NIH Rare Diseases, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Ear diseases


Aliases & Descriptions:

diploid-triploid mosaicism 42 60
growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia 42
diploid/triploid mixoploidy 42
diploid/triploid mosaicism 42
mosaic triploidy 42
embryonic mosaic 60


Related Diseases for Diploid-Triploid Mosaicism

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17GeneCards, 18GeneDecks
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Diseases related to Diploid-Triploid Mosaicism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cohen syndrome10.4
2mosaic trisomy 610.0
3mosaic trisomy 710.0
4mosaic trisomy 910.0
5mosaic trisomy 110.0
6mosaic trisomy 210.0
7mosaic trisomy 410.0
8mosaic trisomy 510.0
9mosaic trisomy 310.0

Graphical network of diseases related to Diploid-Triploid Mosaicism:



Diseases related to diploid-triploid mosaicism

Clinical Features for Diploid-Triploid Mosaicism

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Drugs & Therapeutics for Diploid-Triploid Mosaicism

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Diploid-Triploid Mosaicism

Drug clinical trials:

Search ClinicalTrials for Diploid-Triploid Mosaicism

Search NIH Clinical Center for Diploid-Triploid Mosaicism

Search CenterWatch for Diploid-Triploid Mosaicism

Genetic Tests for Diploid-Triploid Mosaicism

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Anatomical Context for Diploid-Triploid Mosaicism

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Sources:
32MalaCards
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MalaCards organs/tissues related to Diploid-Triploid Mosaicism:

32
Skin

Animal Models for Diploid-Triploid Mosaicism or affiliated genes

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Publications for Diploid-Triploid Mosaicism

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Genetic Variations for Diploid-Triploid Mosaicism

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Expression for genes affiliated with Diploid-Triploid Mosaicism

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Sources:
15Gene Expression Omnibus DataSets
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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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Compounds for genes affiliated with Diploid-Triploid Mosaicism

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GO Terms for genes affiliated with Diploid-Triploid Mosaicism

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Products for genes affiliated with Diploid-Triploid Mosaicism

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diploid-Triploid Mosaicism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet