MCID: PTR034
MIFTS: 24

Paternal Uniparental Disomy

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Paternal Uniparental Disomy

Summaries for Paternal Uniparental Disomy

MalaCards based summary : Paternal Uniparental Disomy is related to mosaic genome-wide paternal uniparental disomy and paternal uniparental disomy of chromosome 6. An important gene associated with Paternal Uniparental Disomy is ABCA4 (ATP Binding Cassette Subfamily A Member 4). The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and pancreas.

Related Diseases for Paternal Uniparental Disomy

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

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 mosaic genome-wide paternal uniparental disomy 12.7
2 paternal uniparental disomy of chromosome 6 12.7
3 paternal uniparental disomy of chromosome 1 12.7
4 paternal uniparental disomy of chromosome 13 12.7
5 angelman syndrome due to paternal uniparental disomy of chromosome 15 12.7
6 kagami-ogata syndrome 12.6
7 beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 12.6
8 paternal uniparental disomy of chromosome x 12.5
9 paternal uniparental disomy of chromosome 5 12.5
10 paternal uniparental disomy of chromosome 20 12.5
11 paternal uniparental disomy of chromosome 21 12.5
12 paternal uniparental disomy of chromosome 7 12.5
13 uniparental disomy of chromosome 11 11.9
14 beckwith-wiedemann syndrome 10.7
15 angelman syndrome 10.7
16 uniparental disomy of chromosome 14 10.6
17 neonatal diabetes mellitus 10.6
18 macroglossia 10.6
19 transient neonatal diabetes mellitus 10.6
20 polyhydramnios 10.6
21 uniparental disomy of chromosome 6 10.6
22 hypoglycemia 10.5
23 hyperinsulinemic hypoglycemia, familial, 5 10.5
24 hyperinsulinemic hypoglycemia, familial, 4 10.5
25 hyperinsulinemic hypoglycemia 10.5
26 hyperinsulinism 10.5
27 hepatoblastoma 10.5
28 uniparental disomy of chromosome 15 10.4
29 prader-willi syndrome 10.4
30 diabetes mellitus, transient neonatal, 1 10.4
31 pseudohypoparathyroidism, type ib 10.4
32 omphalocele 10.4
33 breast fibroadenoma 10.4
34 pseudohypoparathyroidism 10.4
35 overgrowth syndrome 10.4
36 pseudohypoparathyroidism, type ia 10.3
37 hypertelorism 10.3
38 nondisjunction 10.3
39 silver-russell syndrome 10.3
40 costello syndrome 10.3
41 wilms tumor 5 10.3
42 hypospadias 10.3
43 embryonal rhabdomyosarcoma 10.3
44 rhabdomyosarcoma 10.3
45 hyperglycemia 10.3
46 diabetes mellitus 10.3
47 47,xyy 10.3
48 diencephalic syndrome 10.3
49 pseudohypoparathyroidism with albright hereditary osteodystrophy 10.3
50 skeletal dysplasias 10.3

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



Diseases related to Paternal Uniparental Disomy

Symptoms & Phenotypes for Paternal Uniparental Disomy

Drugs & Therapeutics for Paternal Uniparental Disomy

Drugs for Paternal Uniparental Disomy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved 51-61-6, 62-31-7 681
2
Levodopa Approved 59-92-7 6047
3
Carbidopa Approved 28860-95-9 34359
4 Dopamine Agents
5 Adjuvants, Immunologic
6 Neurotransmitter Agents
7 Dopamine agonists
8 Antiparkinson Agents
9 Immunologic Factors
10 Carbidopa, levodopa drug combination
11 Aromatic Amino Acid Decarboxylase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome Completed NCT03235037 Levodopa

Search NIH Clinical Center for Paternal Uniparental Disomy

Genetic Tests for Paternal Uniparental Disomy

Anatomical Context for Paternal Uniparental Disomy

MalaCards organs/tissues related to Paternal Uniparental Disomy:

41
Testes, Liver, Pancreas, Placenta, Thyroid, Cortex, Adrenal Cortex

Publications for Paternal Uniparental Disomy

Articles related to Paternal Uniparental Disomy:

(show top 50) (show all 247)
# Title Authors PMID Year
1
Whole exome sequencing and methylation‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients. 38
31173236 2019
2
Single-nucleotide polymorphism microarray detects molar pregnancies in 3% of miscarriages. 38
31395308 2019
3
Multiple tumors due to mosaic genome-wide paternal uniparental disomy. 38
30882989 2019
4
High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B. 38
30905746 2019
5
Beckwith-Wiedemann syndrome with asymmetric mosaic of paternal disomy causing hemihyperplasia. 38
30340909 2019
6
Adrenal Cortical Neoplasm with Uncertain Malignant Potential Arising in the Heterotopic Adrenal Cortex in the Liver of a Patient with Beckwith-Wiedemann Syndrome. 38
30472817 2019
7
Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report. 38
30616993 2019
8
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism. 38
30797057 2019
9
Complete Paternal Uniparental Disomy of Chromosome 2 in an Asian Female Identified by Short Tandem Repeats and Whole Genome Sequencing. 38
30991391 2019
10
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay. 38
30007940 2018
11
Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts. 38
30141273 2018
12
Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder. 38
30560016 2018
13
A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth. 38
29455159 2018
14
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. 38
30016768 2018
15
[Prenatal diagnosis of two cases of paternal uniparental disomy of chromosome 6]. 38
29896734 2018
16
Primary sulphonylurea therapy in a newborn with transient neonatal diabetes attributable to a paternal uniparental disomy 6q24 (UPD6). 38
28817249 2018
17
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. 38
29160035 2018
18
Chromosome 6q24-related diabetes mellitus. 38
29662264 2018
19
Permanent neonatal diabetes caused by abnormalities in chromosome 6q24. 38
29048742 2017
20
Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature. 38
29162042 2017
21
Pseudohypoparathyroidism type 1B associated with assisted reproductive technology. 38
28902630 2017
22
Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines. 38
28699632 2017
23
Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9. 38
28805612 2017
24
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome. 38
28634246 2017
25
Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q. 38
27859596 2017
26
Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population. 38
27977403 2017
27
Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking. 38
28647735 2017
28
Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene. 38
28898887 2017
29
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. 38
27589201 2016
30
First report of congenital adrenal cysts and pheochromocytoma in a patient with mosaic genome-wide paternal uniparental disomy. 38
27734603 2016
31
Angelman syndrome - insights into a rare neurogenetic disorder. 38
27615419 2016
32
Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome. 38
27436784 2016
33
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol. 38
27372391 2016
34
Fetal growth patterns in Beckwith-Wiedemann syndrome. 38
26857110 2016
35
Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype. 38
27323188 2016
36
Angelman syndrome in Hong Kong Chinese: A 20 years' experience. 38
27174604 2016
37
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion. 38
26572961 2016
38
Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. 38
26377239 2016
39
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome. 38
25898929 2016
40
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. 38
26933465 2016
41
Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature. 38
27771696 2016
42
Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy. 38
26863215 2016
43
Paternal Uniparental Disomy of Chromosome 14 with Hypospadias. 38
27300571 2016
44
6q24 Transient Neonatal Diabetes - How to Manage while Waiting for Genetic Results. 38
27909691 2016
45
Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation. 38
26333487 2015
46
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome). 38
25689926 2015
47
Mosaic paternal genome-wide uniparental isodisomy with down syndrome. 38
26219535 2015
48
Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B). 38
25997889 2015
49
Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome. 38
25171146 2015
50
Parent stress across molecular subtypes of children with Angelman syndrome. 38
25833412 2015

Variations for Paternal Uniparental Disomy

Expression for Paternal Uniparental Disomy

Search GEO for disease gene expression data for Paternal Uniparental Disomy.

Pathways for Paternal Uniparental Disomy

GO Terms for Paternal Uniparental Disomy

Sources for Paternal Uniparental Disomy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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