MCID: MTR034
MIFTS: 24

Maternal Uniparental Disomy, Chromosome 14 malady

Genetic diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Rare diseases categories

Summaries for Maternal Uniparental Disomy, Chromosome 14

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Looking for an antibody for researching maternal uniparental disomy, chromosome 14?

DLK1 antibody
RTL1 antibody
GNRH1 antibody
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:
21GeneTests, 23GTR, 48Orphanet, 27ICD10 via Orphanet
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Maternal Uniparental Disomy, Chromosome 14, Aliases & Descriptions:

Name: Maternal Uniparental Disomy, Chromosome 14 21 23
Maternal Uniparental Disomy of Chromosome 14 48
 
Upd(14)mat 48


Classifications:



External Ids:

ICD10 via Orphanet27 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 1421
2 Uniparental Disomy of Chromosome 14, Maternal23

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

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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, 29IUPHAR, 12DrugBank
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Compounds related to Maternal Uniparental Disomy, Chromosome 14 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dexamethasone44 50 29 1212.4DLK1, 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
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Sources for Maternal Uniparental Disomy, Chromosome 14

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet