MCID: PTR023
MIFTS: 7

Paternal Uniparental Disomy of Chromosome 13

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Paternal Uniparental Disomy of Chromosome 13

MalaCards integrated aliases for Paternal Uniparental Disomy of Chromosome 13:

Name: Paternal Uniparental Disomy of Chromosome 13 58
Upd(13)pat 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q99.8
Orphanet 58 ORPHA99324

Summaries for Paternal Uniparental Disomy of Chromosome 13

MalaCards based summary : Paternal Uniparental Disomy of Chromosome 13, also known as upd(13)pat, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and uniparental disomy of chromosome 13.

Related Diseases for Paternal Uniparental Disomy of Chromosome 13

Symptoms & Phenotypes for Paternal Uniparental Disomy of Chromosome 13

Drugs & Therapeutics for Paternal Uniparental Disomy of Chromosome 13

Search Clinical Trials , NIH Clinical Center for Paternal Uniparental Disomy of Chromosome 13

Genetic Tests for Paternal Uniparental Disomy of Chromosome 13

Anatomical Context for Paternal Uniparental Disomy of Chromosome 13

Publications for Paternal Uniparental Disomy of Chromosome 13

Articles related to Paternal Uniparental Disomy of Chromosome 13:

# Title Authors PMID Year
1
Paternal uniparental disomy of chromosome 13 causing homozygous 35delG mutation of the GJB2 gene and hearing loss. 61
17256794 2007
2
Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis. 61
10710225 2000

Variations for Paternal Uniparental Disomy of Chromosome 13

Expression for Paternal Uniparental Disomy of Chromosome 13

Search GEO for disease gene expression data for Paternal Uniparental Disomy of Chromosome 13.

Pathways for Paternal Uniparental Disomy of Chromosome 13

GO Terms for Paternal Uniparental Disomy of Chromosome 13

Sources for Paternal Uniparental Disomy of Chromosome 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....