MCID: MTR034
MIFTS: 24

Maternal Uniparental Disomy, Chromosome 14 malady

Genetic diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Rare diseases categories
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Summaries for Maternal Uniparental Disomy, Chromosome 14

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MalaCards based summary: Maternal Uniparental Disomy, Chromosome 14, also known as maternal uniparental disomy of chromosome 14, is related to west syndrome and prader-willi syndrome. An important gene associated with Maternal Uniparental Disomy, Chromosome 14 is DLK1 (delta-like 1 homolog (Drosophila)). The compound dexamethasone have been mentioned in the context of this disorder. Related mouse phenotypes are embryogenesis and liver/biliary system.

Aliases & Classifications for Maternal Uniparental Disomy, Chromosome 14

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Sources:
20GeneTests, 22GTR, 48Orphanet, 26ICD10 via Orphanet
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Maternal Uniparental Disomy, Chromosome 14, Aliases & Descriptions:

Name: Maternal Uniparental Disomy, Chromosome 14 20 22
Maternal Uniparental Disomy of Chromosome 14 48
 
Upd(14)mat 48


Classifications:



External Ids:

ICD10 via Orphanet26 Q99.8

Related Diseases for Maternal Uniparental Disomy, Chromosome 14

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Symptoms for Maternal Uniparental Disomy, Chromosome 14

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Drugs & Therapeutics for Maternal Uniparental Disomy, Chromosome 14

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Drug clinical trials:

Search ClinicalTrials for Maternal Uniparental Disomy, Chromosome 14

Search NIH Clinical Center for Maternal Uniparental Disomy, Chromosome 14

Genetic Tests for Maternal Uniparental Disomy, Chromosome 14

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Genetic tests related to Maternal Uniparental Disomy, Chromosome 14:

id Genetic test Affiliating Genes
1 Maternal Uniparental Disomy, Chromosome 1420
2 Uniparental Disomy of Chromosome 14, Maternal22

Anatomical Context for Maternal Uniparental Disomy, Chromosome 14

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Animal Models for Maternal Uniparental Disomy, Chromosome 14 or affiliated genes

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MGI Mouse Phenotypes related to Maternal Uniparental Disomy, Chromosome 14:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.5DLK1, MEG3, RTL1
2MP:00053708.5GNRH1, MEG3, DLK1
3MP:00053787.9DLK1, MEG3, GNRH1, RTL1

Publications for Maternal Uniparental Disomy, Chromosome 14

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Articles related to Maternal Uniparental Disomy, Chromosome 14:

idTitleAuthorsYear
1
Long-acting gonadotropin-releasing hormone analogue treatment for central precocious puberty in maternal uniparental disomy chromosome 14. (16272804)
2005

Variations for Maternal Uniparental Disomy, Chromosome 14

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Expression for genes affiliated with Maternal Uniparental Disomy, Chromosome 14

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Expression patterns in normal tissues for genes affiliated with Maternal Uniparental Disomy, Chromosome 14

Search GEO for disease gene expression data for Maternal Uniparental Disomy, Chromosome 14.

Pathways for genes affiliated with Maternal Uniparental Disomy, Chromosome 14

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Compounds for genes affiliated with Maternal Uniparental Disomy, Chromosome 14

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Sources:
44Novoseek, 50PharmGKB, 28IUPHAR, 11DrugBank
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Compounds related to Maternal Uniparental Disomy, Chromosome 14 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dexamethasone44 50 28 1112.4DLK1, GNRH1

GO Terms for genes affiliated with Maternal Uniparental Disomy, Chromosome 14

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Biological processes related to Maternal Uniparental Disomy, Chromosome 14 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1multicellular organismal developmentGO:0072758.6DLK1, GNRH1, RTL1

Products for genes affiliated with Maternal Uniparental Disomy, Chromosome 14

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  • Antibodies
  • Proteins
  • Lysates

Sources for Maternal Uniparental Disomy, Chromosome 14

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet