MCID: MTR067
MIFTS: 15

Maternal Uniparental Disomy of Chromosome 16

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Maternal Uniparental Disomy of Chromosome 16

MalaCards integrated aliases for Maternal Uniparental Disomy of Chromosome 16:

Name: Maternal Uniparental Disomy of Chromosome 16 59
Upd(16)mat 59

Characteristics:

Orphanet epidemiological data:

59
maternal uniparental disomy of chromosome 16
Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA96185
ICD10 via Orphanet 34 Q99.8

Summaries for Maternal Uniparental Disomy of Chromosome 16

MalaCards based summary : Maternal Uniparental Disomy of Chromosome 16, also known as upd(16)mat, is related to fanconi anemia, complementation group a and adenine phosphoribosyltransferase deficiency. An important gene associated with Maternal Uniparental Disomy of Chromosome 16 is FANCA (FA Complementation Group A), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Fanconi anemia pathway.

Related Diseases for Maternal Uniparental Disomy of Chromosome 16

Graphical network of the top 20 diseases related to Maternal Uniparental Disomy of Chromosome 16:



Diseases related to Maternal Uniparental Disomy of Chromosome 16

Symptoms & Phenotypes for Maternal Uniparental Disomy of Chromosome 16

Drugs & Therapeutics for Maternal Uniparental Disomy of Chromosome 16

Search Clinical Trials , NIH Clinical Center for Maternal Uniparental Disomy of Chromosome 16

Genetic Tests for Maternal Uniparental Disomy of Chromosome 16

Anatomical Context for Maternal Uniparental Disomy of Chromosome 16

Publications for Maternal Uniparental Disomy of Chromosome 16

Articles related to Maternal Uniparental Disomy of Chromosome 16:

# Title Authors Year
1
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia. ( 26841305 )
2016
2
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency. ( 21749366 )
2011
3
Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart's hydrops fetalis. ( 18564363 )
2008

Variations for Maternal Uniparental Disomy of Chromosome 16

Expression for Maternal Uniparental Disomy of Chromosome 16

Search GEO for disease gene expression data for Maternal Uniparental Disomy of Chromosome 16.

Pathways for Maternal Uniparental Disomy of Chromosome 16

GO Terms for Maternal Uniparental Disomy of Chromosome 16

Biological processes related to Maternal Uniparental Disomy of Chromosome 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.16 FANCA SLX4
2 DNA repair GO:0006281 8.96 FANCA SLX4
3 interstrand cross-link repair GO:0036297 8.62 FANCA SLX4

Sources for Maternal Uniparental Disomy of Chromosome 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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