MCID: UNP011
MIFTS: 15

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 kagami-ogata syndrome and temple syndrome. An important gene associated with Uniparental Disomy of Chromosome 14 is DLK1 (Delta Like Non-Canonical Notch Ligand 1). 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 27)
# Related Disease Score Top Affiliating Genes
1 kagami-ogata syndrome 32.1 DLK1 DIO3
2 temple syndrome 32.0 DLK1 DIO3
3 maternal uniparental disomy 30.5 FOXG1 DLK1
4 beckwith-wiedemann syndrome 29.4 DLK1 DIO3
5 prader-willi syndrome 29.4 DLK1 DIO3
6 paternal uniparental disomy 10.6
7 hypotonia 10.4
8 scoliosis 10.3
9 precocious puberty 10.3
10 chromosomal triplication 10.2
11 mosaic trisomy 14 10.2
12 nondisjunction 10.2
13 rett syndrome, congenital variant 10.2
14 short-rib thoracic dysplasia 4 with or without polydactyly 10.2
15 west syndrome 10.2
16 asphyxiating thoracic dystrophy 10.2
17 hypospadias 10.2
18 hydrocephalus 10.2
19 skeletal dysplasias 10.2
20 alacrima, achalasia, and mental retardation syndrome 10.1
21 polyhydramnios 10.1
22 fatty liver disease 10.1
23 silver-russell syndrome 1 9.9
24 branchiootic syndrome 1 9.9
25 microcephaly 9.9
26 hepatoblastoma 9.9
27 47,xyy 9.9

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

Publications for Uniparental Disomy of Chromosome 14

Articles related to Uniparental Disomy of Chromosome 14:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low-level mosaicism for trisomy 14. 61
33595182 2021
2
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies. 61
33313884 2021
3
Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms. 61
32592473 2020
4
[Kagami-Ogata Syndrome: An Anomaly of the Ribs as a Pathognomonic Feature for the Clinical Diagnosis of an (epi)Genetic Syndrome]. 61
31853915 2020
5
Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory. 61
32346853 2020
6
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
7
Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis. 61
31620490 2019
8
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton. 61
30144375 2018
9
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review. 61
30181735 2018
10
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome. 61
29659920 2018
11
Molecular and clinical studies in 8 patients with Temple syndrome. 61
29468661 2018
12
A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism. 61
29311684 2018
13
First Case Report of Prader-Willi-Like Syndrome in Colombia. 61
29619043 2018
14
Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome. 61
30836360 2018
15
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation. 61
28588434 2017
16
Genomic imprinting of DIO3, a candidate gene for the syndrome associated with human uniparental disomy of chromosome 14. 61
27329732 2016
17
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
18
The genetic tumor background is an important determinant for heterogeneous MYCN-amplified neuroblastoma. 61
26910568 2016
19
Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl. 61
27014449 2016
20
Paternal Uniparental Disomy of Chromosome 14 with Hypospadias. 61
27300571 2016
21
Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14. 61
26119964 2015
22
Maternal uniparental disomy 14 revealed by alpha 1 antitrypsin deficiency. 61
24636467 2014
23
Genomic Analyses of Patients With Unexplained Early-Onset Scoliosis. 61
27927329 2014
24
Paternal uniparental disomy of chromosome 14. 61
25179385 2014
25
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. 61
24891339 2014
26
Copy number variants in short children born small for gestational age. 61
25300501 2014
27
Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy. 61
22797553 2012
28
West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14. 61
21910242 2011
29
Coat hanger appearances of the ribs: a useful diagnostic marker of paternal uniparental disomy of chromosome 14. 61
20656731 2010
30
Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14. 61
20602488 2010
31
Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis. 61
20045761 2009
32
Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype. 61
19250383 2009
33
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. 61
21731585 2009
34
A review of known imprinting syndromes and their association with assisted reproduction technologies. 61
18703582 2008
35
Genetic obesity syndromes. 61
18230893 2008
36
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. 61
17601927 2007
37
Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14. 61
17702046 2007
38
Prenatal diagnostic indicators of paternal uniparental disomy 14. 61
16715538 2006
39
Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32. 61
16331412 2005
40
Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion. 61
15747166 2005
41
Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype. 61
15368501 2004
42
Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting. 61
15337470 2004
43
Polar overdominant inheritance of a DLK1 polymorphism is associated with growth and fatness in pigs. 61
15366375 2004
44
Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype. 61
15108205 2004
45
Epigenetic detection of human chromosome 14 uniparental disomy. 61
12815599 2003
46
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
47
Uniparental disomy and Robertsonian translocations: risk estimation and prenatal testing. 61
14580230 2003
48
Genomic imprinting contributes to thyroid hormone metabolism in the mouse embryo. 61
12176332 2002
49
Paternal UPD14 is responsible for a distinctive malformation complex. 61
12116236 2002
50
Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus. 61
12124731 2002

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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