UPD 2
MCID: UNP004
MIFTS: 11

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 52
Uniparental Disomy of 2 52
Upd 2 52

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

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 24)
# Title Authors PMID Year
1
Hypercoagulopathy Associated With Uniparental Disomy of Chromosome 2. 61
32487849 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
First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant. 61
31985178 2020
4
Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn. 61
31502654 2020
5
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
6
Complete Paternal Uniparental Disomy of Chromosome 2 in an Asian Female Identified by Short Tandem Repeats and Whole Genome Sequencing. 61
30991391 2019
7
Prenatal detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome. 61
29399782 2018
8
Obesity and developmental delay in a patient with uniparental disomy of chromosome 2. 61
27654142 2016
9
Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype. 61
23167750 2013
10
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. 61
23141463 2012
11
Small supernumerary marker chromosomes and uniparental disomy have a story to tell. 61
21673185 2011
12
Molecular allelokaryotyping of relapsed pediatric acute lymphoblastic leukemia. 61
19424578 2009
13
Point-contact spectroscopy of the heavy-fermion superconductor CePt(3)Si. 61
21817336 2009
14
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
15
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. 61
18553518 2008
16
Magnetization dynamics in the normal and superconducting phases of UPd(2)Al(3): II. Inferences on the nodal gap symmetry. 61
21690811 2006
17
Nondisjunction and transmission ratio distortion ofChromosome 2 in a (2.8) Robertsonian translocation mouse strain. 61
16518691 2006
18
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations. 61
12442268 2002
19
Spin-triplet superconductivity in UNi(2)Al(3) revealed by the (27)Al Knight shift measurement. 61
12144411 2002
20
Nature of heavy quasiparticles in magnetically ordered heavy fermions UPd(2)Al(3) and UPt(3). 61
12005706 2002
21
Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients. 61
10861661 2000
22
Polarization analysis in the 3-25 keV range at the ESRF magnetic scattering beamline. 61
15263728 1998
23
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
24
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
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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