MCID: UNP005
MIFTS: 20

Uniparental Disomy, Paternal, Chromosome 14 malady

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

Aliases & Classifications for Uniparental Disomy, Paternal, Chromosome 14

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Sources:
45NIH Rare Diseases, 22GeneTests, 65UMLS, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Uniparental Disomy, Paternal, Chromosome 14:

Name: Uniparental Disomy, Paternal, Chromosome 14 45 22 65
Paternal Uniparental Disomy of Chromosome 14 51 24
 
Paternal Uniparental Disomy 14 45
Upd(14)pat 51


Classifications:



External Ids:

Orphanet51 96334
ICD10 via Orphanet28 Q99.8
MESH via Orphanet37 C536471
UMLS via Orphanet66 C1842466

Summaries for Uniparental Disomy, Paternal, Chromosome 14

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MalaCards based summary: Uniparental Disomy, Paternal, Chromosome 14, also known as paternal uniparental disomy of chromosome 14, is related to hepatoblastoma and beckwith-wiedemann syndrome. An important gene associated with Uniparental Disomy, Paternal, Chromosome 14 is MEG3 (Maternally Expressed 3 (Non-Protein Coding)). Related mouse phenotypes are growth/size/body and embryogenesis.

Related Diseases for Uniparental Disomy, Paternal, Chromosome 14

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Graphical network of diseases related to Uniparental Disomy, Paternal, Chromosome 14:



Diseases related to uniparental disomy, paternal, chromosome 14

Symptoms for Uniparental Disomy, Paternal, Chromosome 14

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Drugs & Therapeutics for Uniparental Disomy, Paternal, Chromosome 14

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Uniparental Disomy, Paternal, Chromosome 14

Genetic Tests for Uniparental Disomy, Paternal, Chromosome 14

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Genetic tests related to Uniparental Disomy, Paternal, Chromosome 14:

id Genetic test Affiliating Genes
1 Paternal Uniparental Disomy, Chromosome 1422
2 Uniparental Disomy, Paternal, Chromosome 1424

Anatomical Context for Uniparental Disomy, Paternal, Chromosome 14

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.5DLK1, MEG3, RTL1
2MP:00053808.4DLK1, MEG3, RTL1

Publications for Uniparental Disomy, Paternal, Chromosome 14

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Variations for Uniparental Disomy, Paternal, Chromosome 14

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Clinvar genetic disease variations for Uniparental Disomy, Paternal, Chromosome 14:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NC_000014.9: g.100720531_100829298del108768deletionPathogenicGRCh38Chr 14, 100720531: 100829298
2more than 10NC_000014.9: g.100489287_100900640del411354deletionPathogenicGRCh38Chr 14, 100489287: 100900640
3more than 10NC_000014.9: g.100806482_101281031del474550deletionPathogenicGRCh38Chr 14, 100806482: 101281031
4NR_039729.1(MIR2392): n.-10132_-1575deldeletionPathogenicGRCh38Chr 14, 100804359: 100812916
5MEG3NG_016853.1: g.3781_8083del4303insNC_000014.9: g.100833642_100833702indelPathogenicGRCh37Chr 14, 101291225: 101295527

Expression for genes affiliated with Uniparental Disomy, Paternal, Chromosome 14

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

Pathways for genes affiliated with Uniparental Disomy, Paternal, Chromosome 14

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

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Sources for Uniparental Disomy, Paternal, Chromosome 14

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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