MCID: PTR034
MIFTS: 23

Paternal Uniparental Disomy

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Paternal Uniparental Disomy

MalaCards integrated aliases for Paternal Uniparental Disomy:

Name: Paternal Uniparental Disomy 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q99.8
Orphanet 58 ORPHA98154

Summaries for Paternal Uniparental Disomy

MalaCards based summary : Paternal Uniparental Disomy is related to neonatal diabetes mellitus and transient neonatal diabetes mellitus. An important gene associated with Paternal Uniparental Disomy is TNDM (Diabetes Mellitus, Transient Neonatal). The drugs Levodopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and cortex.

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 105)
# Related Disease Score Top Affiliating Genes
1 neonatal diabetes mellitus 30.3 TNDM GNAS
2 transient neonatal diabetes mellitus 30.3 TNDM GNAS
3 beckwith-wiedemann syndrome 30.0 MEG3 GNAS
4 silver-russell syndrome 1 29.9 MEG3 GNAS
5 odontochondrodysplasia 29.2 GNAS CTSK
6 mosaic genome-wide paternal uniparental disomy 12.7
7 kagami-ogata syndrome 12.7
8 paternal uniparental disomy of chromosome 6 12.7
9 paternal uniparental disomy of chromosome 1 12.7
10 paternal uniparental disomy of chromosome 13 12.7
11 angelman syndrome due to paternal uniparental disomy of chromosome 15 12.7
12 paternal uniparental disomy of chromosome 7 12.6
13 beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 12.6
14 paternal uniparental disomy of chromosome x 12.5
15 paternal uniparental disomy of chromosome 5 12.5
16 paternal uniparental disomy of chromosome 20 12.5
17 paternal uniparental disomy of chromosome 21 12.5
18 uniparental disomy of chromosome 11 11.9
19 angelman syndrome 10.7
20 uniparental disomy of chromosome 14 10.6
21 macroglossia 10.6
22 polyhydramnios 10.6
23 uniparental disomy of chromosome 6 10.6
24 hyperinsulinism 10.5
25 hypoglycemia 10.5
26 hyperinsulinemic hypoglycemia, familial, 5 10.5
27 hyperinsulinemic hypoglycemia, familial, 4 10.5
28 hyperinsulinemic hypoglycemia 10.5
29 hepatoblastoma 10.5
30 omphalocele 10.4
31 uniparental disomy of chromosome 15 10.4
32 overgrowth syndrome 10.4
33 prader-willi syndrome 10.4
34 diabetes mellitus, transient neonatal, 1 10.4
35 pseudohypoparathyroidism, type ib 10.4
36 breast fibroadenoma 10.4
37 pseudohypoparathyroidism 10.4
38 pseudohypoparathyroidism, type ia 10.3
39 hypertelorism 10.3
40 nondisjunction 10.3
41 costello syndrome 10.3
42 wilms tumor 5 10.3
43 hypospadias 10.3
44 embryonal rhabdomyosarcoma 10.3
45 rhabdomyosarcoma 10.3
46 47,xyy 10.3
47 diencephalic syndrome 10.3
48 skeletal dysplasias 10.3
49 abdominal wall defect 10.3
50 atrial standstill 1 10.1

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 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levodopa Approved 59-92-7 6047
2
Dopamine Approved 51-61-6, 62-31-7 681
3
Carbidopa Approved 28860-95-9 34359
4 Antiparkinson Agents
5 Carbidopa, levodopa drug combination
6 Neurotransmitter Agents
7 Dopamine Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dr. Pao-Lin Kuo (Department of Obstetrics and Gynecology) Completed NCT04155944
2 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:

40
Testes, Liver, Cortex, Pancreas, Thyroid, Placenta, Adrenal Cortex

Publications for Paternal Uniparental Disomy

Articles related to Paternal Uniparental Disomy:

(show top 50) (show all 262)
# Title Authors PMID Year
1
Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning. 61
32524756 2020
2
Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association? 61
32573107 2020
3
[Kagami-Ogata Syndrome: An Anomaly of the Ribs as a Pathognomonic Feature for the Clinical Diagnosis of an (epi)Genetic Syndrome]. 61
31853915 2020
4
Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory. 61
32346853 2020
5
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study. 61
32451468 2020
6
Multiple methods used for type detection of uniparental disomy in paternity testing. 61
31807870 2020
7
Characterizing spine issues: If offers novel therapeutics to Angelman syndrome. 61
32378784 2020
8
Cell-Free DNA as an Addition to Ultrasound for Screening of a Complete Hydatidiform Mole and Coexisting Normal Fetus Pregnancy: A Case Report. 61
32566367 2020
9
Methylation Statuses of H19DMR and KvDMR at WT2 in Wilms Tumors in Taiwan. 61
32157637 2020
10
A Male Case of Kagami-Ogata Syndrome Caused by Paternal Unipaternal Disomy 14 as a Result of a Robertsonian Translocation. 61
32211354 2020
11
Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism. 61
31577849 2020
12
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism. 61
30797057 2020
13
Paternal uniparental disomy for chromosome 14: prenatal management. 61
31892621 2019
14
Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndrome. 61
31687262 2019
15
Kagami-Ogata syndrome in a fetus presenting with polyhydramnios, malformations, and preterm delivery: a case report. 61
31753000 2019
16
Single-nucleotide polymorphism microarray detects molar pregnancies in 3% of miscarriages. 61
31395308 2019
17
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. 61
31640736 2019
18
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. 61
31173236 2019
19
High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B. 61
30905746 2019
20
Multiple tumors due to mosaic genome-wide paternal uniparental disomy. 61
30882989 2019
21
Adrenal Cortical Neoplasm with Uncertain Malignant Potential Arising in the Heterotopic Adrenal Cortex in the Liver of a Patient with Beckwith-Wiedemann Syndrome. 61
30472817 2019
22
Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report. 61
30616993 2019
23
Beckwith-Wiedemann syndrome with asymmetric mosaic of paternal disomy causing hemihyperplasia. 61
30340909 2019
24
Complete Paternal Uniparental Disomy of Chromosome 2 in an Asian Female Identified by Short Tandem Repeats and Whole Genome Sequencing. 61
30991391 2019
25
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay. 61
30007940 2018
26
Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts. 61
30141273 2018
27
Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder. 61
30560016 2018
28
A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth. 61
29455159 2018
29
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
30
[Prenatal diagnosis of two cases of paternal uniparental disomy of chromosome 6]. 61
29896734 2018
31
Primary sulphonylurea therapy in a newborn with transient neonatal diabetes attributable to a paternal uniparental disomy 6q24 (UPD6). 61
28817249 2018
32
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. 61
29160035 2018
33
Chromosome 6q24-related diabetes mellitus. 61
29662264 2018
34
Permanent neonatal diabetes caused by abnormalities in chromosome 6q24. 61
29048742 2017
35
Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature. 61
29162042 2017
36
Pseudohypoparathyroidism type 1B associated with assisted reproductive technology. 61
28902630 2017
37
Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines. 61
28699632 2017
38
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. 61
28805612 2017
39
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome. 61
28634246 2017
40
Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q. 61
27859596 2017
41
Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population. 61
27977403 2017
42
Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene. 61
28898887 2017
43
Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking. 61
28647735 2017
44
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. 61
27589201 2016
45
First report of congenital adrenal cysts and pheochromocytoma in a patient with mosaic genome-wide paternal uniparental disomy. 61
27734603 2016
46
Angelman syndrome - insights into a rare neurogenetic disorder. 61
27615419 2016
47
Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome. 61
27436784 2016
48
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol. 61
27372391 2016
49
Fetal growth patterns in Beckwith-Wiedemann syndrome. 61
26857110 2016
50
Angelman syndrome in Hong Kong Chinese: A 20 years' experience. 61
27174604 2016

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 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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