MCID: MTR034
MIFTS: 22

Maternal Uniparental Disomy, Chromosome 14 malady

Neuronal, Endocrine, Fetal categories

Summaries for Maternal Uniparental Disomy, Chromosome 14

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MalaCards: Maternal Uniparental Disomy, Chromosome 14, also known as maternal uniparental disomy of chromosome 14, is related to west syndrome and foxg1 syndrome. An important gene associated with Maternal Uniparental Disomy, Chromosome 14 is RTL1 (retrotransposon-like 1). Related mouse phenotypes are liver/biliary system and muscle.

Aliases & Classifications for Maternal Uniparental Disomy, Chromosome 14

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20GeneTests, 22GTR, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Endocrine


Aliases & Descriptions:

maternal uniparental disomy, chromosome 14 20 22
maternal uniparental disomy of chromosome 14 49
upd mat 49


External Ids:

ICD10 via Orphanet26 Q99.8

Related Diseases for Maternal Uniparental Disomy, Chromosome 14

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17GeneCards, 18GeneDecks
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Diseases in the Maternal Uniparental Disomy, Chromosome 14 family:

maternal uniparental disomy of chromosome 1 maternal uniparental disomy of chromosome x
maternal uniparental disomy of chromosome 9 maternal uniparental disomy of chromosome 6
maternal uniparental disomy of chromosome 4 maternal uniparental disomy of chromosome 2
maternal uniparental disomy of chromosome 22 maternal uniparental disomy of chromosome 21
maternal uniparental disomy of chromosome 20 maternal uniparental disomy of chromosome 16

Diseases related to Maternal Uniparental Disomy, Chromosome 14 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1west syndrome10.5
2foxg1 syndrome10.5
3precocious puberty10.4
4central precocious puberty10.4
5uniparental disomy of 1310.2
6maternal uniparental disomy of chromosome 110.2
7maternal uniparental disomy of chromosome x10.2
8silver-russell syndrome due to maternal uniparental disomy of chromosome 1110.2
9maternal uniparental disomy of chromosome 910.2
10silver-russell syndrome due to maternal uniparental disomy of chromosome 710.2
11maternal uniparental disomy of chromosome 610.2
12maternal uniparental disomy of chromosome 410.2
13maternal uniparental disomy of chromosome 210.2
14maternal uniparental disomy of chromosome 2210.2
15maternal uniparental disomy of chromosome 2110.2
16maternal uniparental disomy of chromosome 2010.2
17maternal uniparental disomy of chromosome 1610.2
18prader-willi syndrome due to maternal uniparental disomy of chromosome 1510.2
19pituitary adenoma10.0GNRH1
20adenoma10.0GNRH1
21pituitary tumors10.0GNRH1
22seminoma10.0MEG3

Graphical network of the top 20 diseases related to Maternal Uniparental Disomy, Chromosome 14:



Diseases related to maternal uniparental disomy, chromosome 14

Clinical Features for Maternal Uniparental Disomy, Chromosome 14

Drugs & Therapeutics for Maternal Uniparental Disomy, Chromosome 14

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Maternal Uniparental Disomy, Chromosome 14

Drug clinical trials:

Search ClinicalTrials for Maternal Uniparental Disomy, Chromosome 14

Search NIH Clinical Center for Maternal Uniparental Disomy, Chromosome 14

Search CenterWatch for Maternal Uniparental Disomy, Chromosome 14

Genetic Tests for Maternal Uniparental Disomy, Chromosome 14

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20GeneTests, 22GTR
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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

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Maternal Uniparental Disomy, Chromosome 14:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8GNRH1, MEG3, DLK1
2MP:00053698.2MEG3, DLK1, FOXG1
3MP:00053808.1FOXG1, MEG3, DLK1, RTL1
4MP:00053768.0FOXG1, MEG3, DLK1, GNRH1
5MP:00053847.9GNRH1, FOXG1, MEG3, DLK1
6MP:00053787.6RTL1, DLK1, MEG3, FOXG1, GNRH1

Publications for Maternal Uniparental Disomy, Chromosome 14

Genetic Variations for Maternal Uniparental Disomy, Chromosome 14

Expression for genes affiliated with Maternal Uniparental Disomy, Chromosome 14

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Maternal Uniparental Disomy, Chromosome 14

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

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16Gene Ontology
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Biological processes related to Maternal Uniparental Disomy, Chromosome 14 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1multicellular organismal developmentGO:0072759.0RTL1, DLK1, GNRH1

Products for genes affiliated with Maternal Uniparental Disomy, Chromosome 14

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Sources for Maternal Uniparental Disomy, Chromosome 14

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet