UPD 2
MCID: UNP004
MIFTS: 12

Uniparental Disomy of Chromosome 2 (UPD 2)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Uniparental Disomy of Chromosome 2

MalaCards integrated aliases for Uniparental Disomy of Chromosome 2:

Name: Uniparental Disomy of Chromosome 2 20
Uniparental Disomy of 2 20
Upd 2 20

Classifications:



Summaries for Uniparental Disomy of Chromosome 2

MalaCards based summary : Uniparental Disomy of Chromosome 2, also known as uniparental disomy of 2, is related to maternal uniparental disomy of chromosome 2 and maternal uniparental disomy.

Related Diseases for Uniparental Disomy of Chromosome 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 maternal uniparental disomy of chromosome 2 11.4
2 maternal uniparental disomy 10.4
3 mitochondrial dna depletion syndrome 10.3
4 chromosomal triplication 10.3
5 trisomy 2 mosaicism 10.3
6 gapo syndrome 10.1
7 multiple pterygium syndrome, escobar variant 10.1
8 respiratory distress syndrome in premature infants 10.1
9 body mass index quantitative trait locus 9 10.1
10 body mass index quantitative trait locus 8 10.1
11 body mass index quantitative trait locus 4 10.1
12 body mass index quantitative trait locus 10 10.1
13 body mass index quantitative trait locus 7 10.1
14 mitochondrial trifunctional protein deficiency 10.1
15 body mass index quantitative trait locus 12 10.1
16 body mass index quantitative trait locus 14 10.1
17 body mass index quantitative trait locus 18 10.1
18 body mass index quantitative trait locus 19 10.1
19 hypospadias 10.1
20 oligohydramnios 10.1
21 newborn respiratory distress syndrome 10.1
22 hypothyroidism 10.1
23 epidermolysis bullosa 10.1
24 junctional epidermolysis bullosa 10.1
25 placental insufficiency 10.1
26 retinal degeneration 10.1
27 bronchopulmonary dysplasia 10.1
28 renal dysplasia 10.1
29 paternal uniparental disomy 10.1

Graphical network of the top 20 diseases related to Uniparental Disomy of Chromosome 2:



Diseases related to Uniparental Disomy of Chromosome 2

Symptoms & Phenotypes for Uniparental Disomy of Chromosome 2

Drugs & Therapeutics for Uniparental Disomy of Chromosome 2

Search Clinical Trials , NIH Clinical Center for Uniparental Disomy of Chromosome 2

Genetic Tests for Uniparental Disomy of Chromosome 2

Anatomical Context for Uniparental Disomy of Chromosome 2

Publications for Uniparental Disomy of Chromosome 2

Articles related to Uniparental Disomy of Chromosome 2:

(show all 25)
# Title Authors PMID Year
1
Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome. 61
33114160 2020
2
Mitochondrial DNA depletion syndrome in a newborn with Jaundice Caused by DGUOK mutation and complete uniparental disomy of chromosome 2. 61
32482602 2020
3
Hypercoagulopathy Associated With Uniparental Disomy of Chromosome 2. 61
32487849 2020
4
First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant. 61
31985178 2020
5
Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn. 61
31502654 2020
6
Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2. 61
31425299 2019
7
Complete Paternal Uniparental Disomy of Chromosome 2 in an Asian Female Identified by Short Tandem Repeats and Whole Genome Sequencing. 61
30991391 2019
8
Prenatal detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome. 61
29399782 2018
9
Obesity and developmental delay in a patient with uniparental disomy of chromosome 2. 61
27654142 2016
10
Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype. 61
23167750 2013
11
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. 61
23141463 2012
12
Small supernumerary marker chromosomes and uniparental disomy have a story to tell. 61
21673185 2011
13
Molecular allelokaryotyping of relapsed pediatric acute lymphoblastic leukemia. 61
19424578 2009
14
Point-contact spectroscopy of the heavy-fermion superconductor CePt(3)Si. 61
21817336 2009
15
A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology. 61
19372674 2009
16
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. 61
18553518 2008
17
Magnetization dynamics in the normal and superconducting phases of UPd(2)Al(3): II. Inferences on the nodal gap symmetry. 61
21690811 2006
18
Nondisjunction and transmission ratio distortion ofChromosome 2 in a (2.8) Robertsonian translocation mouse strain. 61
16518691 2006
19
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations. 61
12442268 2002
20
Spin-triplet superconductivity in UNi(2)Al(3) revealed by the (27)Al Knight shift measurement. 61
12144411 2002
21
Nature of heavy quasiparticles in magnetically ordered heavy fermions UPd(2)Al(3) and UPt(3). 61
12005706 2002
22
Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients. 61
10861661 2000
23
Polarization analysis in the 3-25 keV range at the ESRF magnetic scattering beamline. 61
15263728 1998
24
Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios. 61
9178319 1997
25
Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture. 61
8533806 1995

Variations for Uniparental Disomy of Chromosome 2

Expression for Uniparental Disomy of Chromosome 2

Search GEO for disease gene expression data for Uniparental Disomy of Chromosome 2.

Pathways for Uniparental Disomy of Chromosome 2

GO Terms for Uniparental Disomy of Chromosome 2

Sources for Uniparental Disomy of Chromosome 2

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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