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 Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include cortex, bone and pituitary.

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 106)
# Related Disease Score Top Affiliating Genes
1 neonatal diabetes mellitus 30.4 TNDM GNAS
2 transient neonatal diabetes mellitus 30.4 TNDM GNAS
3 beckwith-wiedemann syndrome 30.0 MEG3 GNAS
4 silver-russell syndrome 29.8 MEG3 GNAS
5 mosaic genome-wide paternal uniparental disomy 12.7
6 paternal uniparental disomy of chromosome 6 12.7
7 paternal uniparental disomy of chromosome 1 12.7
8 paternal uniparental disomy of chromosome 13 12.7
9 angelman syndrome due to paternal uniparental disomy of chromosome 15 12.7
10 kagami-ogata syndrome 12.6
11 beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 12.6
12 paternal uniparental disomy of chromosome x 12.5
13 paternal uniparental disomy of chromosome 5 12.5
14 paternal uniparental disomy of chromosome 20 12.5
15 paternal uniparental disomy of chromosome 21 12.5
16 paternal uniparental disomy of chromosome 7 12.5
17 uniparental disomy of chromosome 11 11.9
18 angelman syndrome 10.7
19 uniparental disomy of chromosome 14 10.6
20 macroglossia 10.6
21 polyhydramnios 10.6
22 uniparental disomy of chromosome 6 10.6
23 hyperinsulinism 10.5
24 hypoglycemia 10.5
25 hyperinsulinemic hypoglycemia, familial, 5 10.5
26 hyperinsulinemic hypoglycemia, familial, 4 10.5
27 hyperinsulinemic hypoglycemia 10.5
28 hepatoblastoma 10.5
29 omphalocele 10.4
30 uniparental disomy of chromosome 15 10.4
31 overgrowth syndrome 10.4
32 prader-willi syndrome 10.4
33 diabetes mellitus, transient neonatal, 1 10.4
34 pseudohypoparathyroidism, type ib 10.4
35 breast fibroadenoma 10.4
36 pseudohypoparathyroidism 10.4
37 hyperglycemia 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 diabetes mellitus 10.3
47 47,xyy 10.3
48 diencephalic syndrome 10.3
49 skeletal dysplasias 10.3
50 abdominal wall defect 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 Immunologic Factors
5 Neurotransmitter Agents
6 Dopamine Agents
7 Dopamine agonists
8 Aromatic Amino Acid Decarboxylase Inhibitors
9 Antiparkinson Agents
10 Carbidopa, levodopa drug combination
11 Adjuvants, Immunologic

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
Cortex, Bone, Pituitary, Testes, Liver, Pancreas, Thyroid

Publications for Paternal Uniparental Disomy

Articles related to Paternal Uniparental Disomy:

(show top 50) (show all 254)
# Title Authors PMID Year
1
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism. 61
30797057 2020
2
Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism. 61
31577849 2020
3
Paternal uniparental disomy for chromosome 14: prenatal management. 61
31892621 2019
4
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
5
[Kagami-Ogata Syndrome: An Anomaly of the Ribs as a Pathognomonic Feature for the Clinical Diagnosis of an (epi)Genetic Syndrome]. 61
31853915 2019
6
Multiple methods used for type detection of uniparental disomy in paternity testing. 61
31807870 2019
7
Kagami-Ogata syndrome in a fetus presenting with polyhydramnios, malformations, and preterm delivery: a case report. 61
31753000 2019
8
Single-nucleotide polymorphism microarray detects molar pregnancies in 3% of miscarriages. 61
31395308 2019
9
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. 61
31640736 2019
10
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
11
High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B. 61
30905746 2019
12
Multiple tumors due to mosaic genome-wide paternal uniparental disomy. 61
30882989 2019
13
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
14
Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report. 61
30616993 2019
15
Beckwith-Wiedemann syndrome with asymmetric mosaic of paternal disomy causing hemihyperplasia. 61
30340909 2019
16
Complete Paternal Uniparental Disomy of Chromosome 2 in an Asian Female Identified by Short Tandem Repeats and Whole Genome Sequencing. 61
30991391 2019
17
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay. 61
30007940 2018
18
Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts. 61
30141273 2018
19
Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder. 61
30560016 2018
20
A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth. 61
29455159 2018
21
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
22
[Prenatal diagnosis of two cases of paternal uniparental disomy of chromosome 6]. 61
29896734 2018
23
Primary sulphonylurea therapy in a newborn with transient neonatal diabetes attributable to a paternal uniparental disomy 6q24 (UPD6). 61
28817249 2018
24
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. 61
29160035 2018
25
Chromosome 6q24-related diabetes mellitus. 61
29662264 2018
26
Permanent neonatal diabetes caused by abnormalities in chromosome 6q24. 61
29048742 2017
27
Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature. 61
29162042 2017
28
Pseudohypoparathyroidism type 1B associated with assisted reproductive technology. 61
28902630 2017
29
Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines. 61
28699632 2017
30
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
31
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome. 61
28634246 2017
32
Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q. 61
27859596 2017
33
Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population. 61
27977403 2017
34
Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking. 61
28647735 2017
35
Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene. 61
28898887 2017
36
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. 61
27589201 2016
37
First report of congenital adrenal cysts and pheochromocytoma in a patient with mosaic genome-wide paternal uniparental disomy. 61
27734603 2016
38
Angelman syndrome - insights into a rare neurogenetic disorder. 61
27615419 2016
39
Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome. 61
27436784 2016
40
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
41
Fetal growth patterns in Beckwith-Wiedemann syndrome. 61
26857110 2016
42
Angelman syndrome in Hong Kong Chinese: A 20 years' experience. 61
27174604 2016
43
Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype. 61
27323188 2016
44
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. 61
26572961 2016
45
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome. 61
25898929 2016
46
Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. 61
26377239 2016
47
Paternal Uniparental Disomy of Chromosome 14 with Hypospadias. 61
27300571 2016
48
Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy. 61
26863215 2016
49
6q24 Transient Neonatal Diabetes - How to Manage while Waiting for Genetic Results. 61
27909691 2016
50
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. 61
26933465 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
Content
Loading form....