MCID: UNP011
MIFTS: 16

Uniparental Disomy of Chromosome 14

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Uniparental Disomy of Chromosome 14

MalaCards integrated aliases for Uniparental Disomy of Chromosome 14:

Name: Uniparental Disomy of Chromosome 14 58
Upd(14) 58

Classifications:



External Ids:

Orphanet 58 ORPHA263049

Summaries for Uniparental Disomy of Chromosome 14

MalaCards based summary : Uniparental Disomy of Chromosome 14, also known as upd(14), is related to maternal uniparental disomy and beckwith-wiedemann syndrome. An important gene associated with Uniparental Disomy of Chromosome 14 is DLK1 (Delta Like Non-Canonical Notch Ligand 1). Affiliated tissues include thyroid and testes, and related phenotypes are Decreased Hepatitis C virus replication and Decreased Hepatitis C virus replication

Related Diseases for Uniparental Disomy of Chromosome 14

Diseases in the Uniparental Disomy of Chromosome 1 family:

Chromosome 1, Uniparental Disomy 1q12 Q21 Chromosome 10, Uniparental Disomy
Chromosome 16, Uniparental Disomy Chromosome 21, Uniparental Disomy
Chromosome 5, Uniparental Disomy Uniparental Disomy of Chromosome 11
Uniparental Disomy of Chromosome 2 Uniparental Disomy of Chromosome 6
Uniparental Disomy of Chromosome 15 Uniparental Disomy of Chromosome 20
Uniparental Disomy of Chromosome 13 Uniparental Disomy of Chromosome 14
Uniparental Disomy of Chromosome 7

Diseases related to Uniparental Disomy of Chromosome 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 maternal uniparental disomy 30.2 FOXG1 DLK1
2 beckwith-wiedemann syndrome 29.3 DLK1 DIO3
3 prader-willi syndrome 28.9 DLK1 DIO3
4 temple syndrome 12.4
5 kagami-ogata syndrome 12.1
6 paternal uniparental disomy 10.6
7 hypotonia 10.4
8 precocious puberty 10.3
9 scoliosis 10.3
10 alacrima, achalasia, and mental retardation syndrome 10.2
11 polyhydramnios 10.2
12 chromosomal triplication 10.2
13 nondisjunction 10.1
14 rett syndrome, congenital variant 10.1
15 short-rib thoracic dysplasia 4 with or without polydactyly 10.1
16 west syndrome 10.1
17 asphyxiating thoracic dystrophy 10.1
18 hypospadias 10.1
19 hydrocephalus 10.1
20 skeletal dysplasias 10.1
21 silver-russell syndrome 10.1
22 branchiootic syndrome 1 10.1
23 microcephaly 10.1
24 hepatoblastoma 10.1
25 47,xyy 10.1
26 mosaic trisomy 14 10.1

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



Diseases related to Uniparental Disomy of Chromosome 14

Symptoms & Phenotypes for Uniparental Disomy of Chromosome 14

GenomeRNAi Phenotypes related to Uniparental Disomy of Chromosome 14 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Hepatitis C virus replication GR00180-A-1 8.8 DLK1 FOXG1
2 Decreased Hepatitis C virus replication GR00180-A-2 8.8 DLK1

Drugs & Therapeutics for Uniparental Disomy of Chromosome 14

Search Clinical Trials , NIH Clinical Center for Uniparental Disomy of Chromosome 14

Genetic Tests for Uniparental Disomy of Chromosome 14

Anatomical Context for Uniparental Disomy of Chromosome 14

MalaCards organs/tissues related to Uniparental Disomy of Chromosome 14:

40
Thyroid, Testes

Publications for Uniparental Disomy of Chromosome 14

Articles related to Uniparental Disomy of Chromosome 14:

(show top 50) (show all 55)
# Title Authors PMID Year
1
[Kagami-Ogata Syndrome: An Anomaly of the Ribs as a Pathognomonic Feature for the Clinical Diagnosis of an (epi)Genetic Syndrome]. 61
31853915 2019
2
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis? 61
31273809 2019
3
Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis. 61
31620490 2019
4
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton. 61
30144375 2018
5
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review. 61
30181735 2018
6
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome. 61
29659920 2018
7
Molecular and clinical studies in 8 patients with Temple syndrome. 61
29468661 2018
8
A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism. 61
29311684 2018
9
Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome. 61
30836360 2018
10
First Case Report of Prader-Willi-Like Syndrome in Colombia. 61
29619043 2018
11
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation. 61
28588434 2017
12
Genomic imprinting of DIO3, a candidate gene for the syndrome associated with human uniparental disomy of chromosome 14. 61
27329732 2016
13
Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos. 61
26867509 2016
14
The genetic tumor background is an important determinant for heterogeneous MYCN-amplified neuroblastoma. 61
26910568 2016
15
Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl. 61
27014449 2016
16
Paternal Uniparental Disomy of Chromosome 14 with Hypospadias. 61
27300571 2016
17
Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14. 61
26119964 2015
18
Maternal uniparental disomy 14 revealed by alpha 1 antitrypsin deficiency. 61
24636467 2014
19
Genomic Analyses of Patients With Unexplained Early-Onset Scoliosis. 61
27927329 2014
20
Paternal uniparental disomy of chromosome 14. 61
25179385 2014
21
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. 61
24891339 2014
22
Copy number variants in short children born small for gestational age. 61
25300501 2014
23
Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy. 61
22797553 2012
24
West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14. 61
21910242 2011
25
Coat hanger appearances of the ribs: a useful diagnostic marker of paternal uniparental disomy of chromosome 14. 61
20656731 2010
26
Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14. 61
20602488 2010
27
Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis. 61
20045761 2009
28
Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype. 61
19250383 2009
29
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. 61
21731585 2009
30
A review of known imprinting syndromes and their association with assisted reproduction technologies. 61
18703582 2008
31
Genetic obesity syndromes. 61
18230893 2008
32
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. 61
17601927 2007
33
Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14. 61
17702046 2007
34
Prenatal diagnostic indicators of paternal uniparental disomy 14. 61
16715538 2006
35
Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion. 61
15747166 2005
36
Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32. 61
16331412 2005
37
Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype. 61
15368501 2004
38
Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting. 61
15337470 2004
39
Polar overdominant inheritance of a DLK1 polymorphism is associated with growth and fatness in pigs. 61
15366375 2004
40
Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype. 61
15108205 2004
41
Epigenetic detection of human chromosome 14 uniparental disomy. 61
12815599 2003
42
Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay. 61
12676919 2003
43
Uniparental disomy and Robertsonian translocations: risk estimation and prenatal testing. 61
14580230 2003
44
Genomic imprinting contributes to thyroid hormone metabolism in the mouse embryo. 61
12176332 2002
45
Paternal UPD14 is responsible for a distinctive malformation complex. 61
12116236 2002
46
Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus. 61
12124731 2002
47
A case of segmental paternal isodisomy of chromosome 14. 61
11935337 2002
48
Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2). 61
10465116 1999
49
Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting. 61
9783704 1998
50
Paternal uniparental disomy for chromosome 14: a case report and review. 61
9129745 1997

Variations for Uniparental Disomy of Chromosome 14

Expression for Uniparental Disomy of Chromosome 14

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

Pathways for Uniparental Disomy of Chromosome 14

GO Terms for Uniparental Disomy of Chromosome 14

Sources for Uniparental Disomy of Chromosome 14

3 CDC
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11 DGIdb
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48 NCI
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50 NDF-RT
53 NINDS
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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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