MCID: MTR067
MIFTS: 16

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 58
Upd(16)mat 58

Characteristics:

Orphanet epidemiological data:

58
maternal uniparental disomy of chromosome 16
Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q99.8
Orphanet 58 ORPHA96185

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 maternal uniparental disomy and fanconi anemia, complementation group p. An important gene associated with Maternal Uniparental Disomy of Chromosome 16 is FANCA (FA Complementation Group A), and among its related pathways/superpathways is Fanconi anemia pathway. Affiliated tissues include heart.

Related Diseases for Maternal Uniparental Disomy of Chromosome 16

Diseases in the Maternal Uniparental Disomy of Chromosome 1 family:

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 16
Maternal Uniparental Disomy of Chromosome 13

Diseases related to Maternal Uniparental Disomy of Chromosome 16 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 maternal uniparental disomy 30.4 SLX4 FANCA
2 fanconi anemia, complementation group p 29.7 SLX4 FANCA
3 fanconi anemia, complementation group a 29.2 SLX4 FANCA
4 chromosomal triplication 10.3
5 silver-russell syndrome 10.3
6 hypospadias 10.3
7 ventricular septal defect 10.3
8 heart septal defect 10.3
9 diencephalic syndrome 10.3
10 hydrops fetalis, nonimmune 10.2
11 adenine phosphoribosyltransferase deficiency 10.2
12 placental insufficiency 10.2
13 chromosome 16 trisomy 10.2
14 thrombophlebitis migrans 9.7 SLX4 FANCA
15 fanconi anemia, complementation group u 9.7 SLX4 FANCA
16 fanconi anemia, complementation group v 9.7 SLX4 FANCA
17 fanconi anemia, complementation group r 9.7 SLX4 FANCA
18 fanconi anemia, complementation group t 9.7 SLX4 FANCA
19 fanconi anemia, complementation group q 9.7 SLX4 FANCA
20 fanconi anemia, complementation group o 9.6 SLX4 FANCA
21 fanconi anemia, complementation group n 9.6 SLX4 FANCA
22 fanconi anemia, complementation group d1 9.6 SLX4 FANCA
23 fanconi anemia, complementation group j 9.6 SLX4 FANCA
24 esophageal atresia 9.5 SLX4 FANCA
25 congenital hypoplastic anemia 9.5 SLX4 FANCA
26 xeroderma pigmentosum, variant type 9.4 SLX4 FANCA

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

MalaCards organs/tissues related to Maternal Uniparental Disomy of Chromosome 16:

40
Heart

Publications for Maternal Uniparental Disomy of Chromosome 16

Articles related to Maternal Uniparental Disomy of Chromosome 16:

# Title Authors PMID Year
1
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology. 61
30242100 2019
2
Novel parent-of-origin-specific differentially methylated loci on chromosome 16. 61
30961659 2019
3
Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself. 61
28032339 2017
4
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia. 61
26841305 2016
5
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency. 61
21749366 2011
6
Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart's hydrops fetalis. 61
18564363 2008
7
Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion. 61
14997362 2004
8
Evidence for imprinting on chromosome 16: the effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies. 61
12244544 2002
9
Maternal uniparental disomy of chromosome 16 and body stalk anomaly. 61
11038440 2000

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

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

# Super pathways Score Top Affiliating Genes
1 10.59 SLX4 FANCA

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 SLX4 FANCA
2 DNA repair GO:0006281 8.96 SLX4 FANCA
3 interstrand cross-link repair GO:0036297 8.62 SLX4 FANCA

Sources for Maternal Uniparental Disomy of Chromosome 16

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
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