MCID: UNP008
MIFTS: 15

Uniparental Disomy of Chromosome 15

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Uniparental Disomy of Chromosome 15

MalaCards integrated aliases for Uniparental Disomy of Chromosome 15:

Name: Uniparental Disomy of Chromosome 15 58
Upd(15) 58

Classifications:



External Ids:

Orphanet 58 ORPHA263054

Summaries for Uniparental Disomy of Chromosome 15

MalaCards based summary : Uniparental Disomy of Chromosome 15, also known as upd(15), is related to angelman syndrome due to paternal uniparental disomy of chromosome 15 and prader-willi syndrome. An important gene associated with Uniparental Disomy of Chromosome 15 is CATSPER2 (Cation Channel Sperm Associated 2). Affiliated tissues include testes, pituitary and thyroid.

Related Diseases for Uniparental Disomy of Chromosome 15

Graphical network of the top 20 diseases related to Uniparental Disomy of Chromosome 15:



Diseases related to Uniparental Disomy of Chromosome 15

Symptoms & Phenotypes for Uniparental Disomy of Chromosome 15

Drugs & Therapeutics for Uniparental Disomy of Chromosome 15

Search Clinical Trials , NIH Clinical Center for Uniparental Disomy of Chromosome 15

Genetic Tests for Uniparental Disomy of Chromosome 15

Anatomical Context for Uniparental Disomy of Chromosome 15

MalaCards organs/tissues related to Uniparental Disomy of Chromosome 15:

40
Testes, Pituitary, Thyroid

Publications for Uniparental Disomy of Chromosome 15

Articles related to Uniparental Disomy of Chromosome 15:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients. 61
31687254 2019
2
Possibility of early diagnosis in a fetus affected by Prader‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned. 61
31115529 2019
3
Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study. 61
29730598 2019
4
Angelman Syndrome-Affected Individual with a Numerically Normal Karyotype and Isodisomic Paternal Uniparental Disomy of Chromosome 15 due to Maternal Robertsonian Translocation (14;15) by Monosomy Rescue. 61
30016768 2018
5
Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report. 61
28938886 2017
6
Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome. 61
28317263 2017
7
Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking. 61
28647735 2017
8
Angelman syndrome - insights into a rare neurogenetic disorder. 61
27615419 2016
9
Decline of CSF orexin (hypocretin) levels in Prader-Willi syndrome. 61
26738920 2016
10
Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features. 61
26636500 2016
11
A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array. 61
26109092 2015
12
Unaltered ratio of circulating levels of growth hormone/GH isoforms in adults with Prader-Willi syndrome after GHRH plus arginine administration. 61
26059749 2015
13
Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15. 61
25900722 2015
14
Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq. 61
25287655 2015
15
Treatment of a Prader-Willi Patient with Recurrent Catatonia. 61
26064753 2015
16
Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities. 61
24737477 2014
17
A twin sibling with Prader-Willi syndrome caused by uniparental disomy conceived after in vitro fertilization. 61
25804024 2014
18
The GHRH + arginine stimulated pituitary GH secretion in children and adults with Prader-Willi syndrome shows age- and BMI-dependent and genotype-related differences. 61
24090687 2013
19
Deconvolution-based assessment of pituitary GH secretion stimulated with GHRH+arginine in Prader-Willi adults and obese controls. 61
23301953 2013
20
Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype. 61
23686718 2013
21
Neurologic manifestations of Angelman syndrome. 61
23498559 2013
22
Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array. 61
23225330 2013
23
A clinical follow-up of 35 Brazilian patients with Prader-Willi syndrome. 61
22948460 2012
24
Quantitative and qualitative analyses of the SNRPN gene using real-time PCR with melting curve analysis. 61
21889609 2011
25
Growth hormone secretion among adult patients with Prader-Willi syndrome due to different genetic subtypes. 61
20651469 2011
26
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. 61
20631049 2010
27
Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis. 61
20045761 2009
28
Detection and discrimination between deletional and non-deletional Prader-Willi and Angelman syndromes by methylation-specific PCR and quantitative melting curve analysis. 61
19661385 2009
29
A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7. 61
19517448 2009
30
Body fat excess and stimulated growth hormone levels in adult patients with Prader-Willi syndrome. 61
19267411 2009
31
The Italian National Survey for Prader-Willi syndrome: an epidemiologic study. 61
18203198 2008
32
Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14. 61
17702046 2007
33
Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation. 61
17159828 2006
34
Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented. 61
16906556 2006
35
Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification. 61
16690734 2006
36
Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis. 61
16683276 2006
37
Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15). 61
15337472 2004
38
Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization. 61
15151506 2004
39
[Prader-Willi syndrome and genomic imprinting]. 61
14749005 2003
40
Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology. 61
12757356 2003
41
Prenatal detection of maternal UPD15 in a new case with i(15p) by Timing Replication Test (TRT) and methylation analysis. 61
12773799 2003
42
Uniparental disomy: clinical indications for testing in growth retardation. 61
12029448 2002
43
Statistical analysis of uniparental disomy data using hidden Markov models. 61
11764246 2001
44
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation. 61
11337756 2001
45
Multipoint genetic mapping with uniparental disomy data. 61
10958760 2000
46
Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome. 61
10995513 2000
47
Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients. 61
10861661 2000
48
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15. 61
10852369 2000
49
Atypical features in Angelman syndrome due to imprinting defect of uniparental disomy of chromosome 15. 61
10832589 2000
50
A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction. 61
10733242 2000

Variations for Uniparental Disomy of Chromosome 15

Expression for Uniparental Disomy of Chromosome 15

Search GEO for disease gene expression data for Uniparental Disomy of Chromosome 15.

Pathways for Uniparental Disomy of Chromosome 15

GO Terms for Uniparental Disomy of Chromosome 15

Sources for Uniparental Disomy of Chromosome 15

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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