MCID: PTR018
MIFTS: 20

Paternal Uniparental Disomy of Chromosome 6

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Paternal Uniparental Disomy of Chromosome 6

Summaries for Paternal Uniparental Disomy of Chromosome 6

MalaCards based summary : Paternal Uniparental Disomy of Chromosome 6, also known as upd(6)pat, is related to neonatal diabetes and transient neonatal diabetes mellitus. An important gene associated with Paternal Uniparental Disomy of Chromosome 6 is HYMAI (Hydatidiform Mole Associated And Imprinted). Affiliated tissues include placenta, and related phenotypes are high palate and precocious puberty

Related Diseases for Paternal Uniparental Disomy of Chromosome 6

Graphical network of the top 20 diseases related to Paternal Uniparental Disomy of Chromosome 6:



Diseases related to Paternal Uniparental Disomy of Chromosome 6

Symptoms & Phenotypes for Paternal Uniparental Disomy of Chromosome 6

Human phenotypes related to Paternal Uniparental Disomy of Chromosome 6:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
2 precocious puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000826
3 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
4 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
5 gingival overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000212
6 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
7 dehydration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001944
8 cardiomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001640
9 prominent occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0000269
10 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
11 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
12 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
13 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
14 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
15 neonatal respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002643
16 ventricular septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001629
17 hypoplastic fingernail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001804
18 abnormality of earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0000363
19 oligohydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001562
20 prominent nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000448
21 neonatal insulin-dependent diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000857
22 shallow orbits 58 31 hallmark (90%) Very frequent (99-80%) HP:0000586
23 labial hypertrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000065
24 small anterior fontanelle 58 31 hallmark (90%) Very frequent (99-80%) HP:0000237
25 generalized myoclonic seizure 31 hallmark (90%) HP:0002123
26 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
27 joint laxity 31 occasional (7.5%) HP:0001388
28 abnormal placenta morphology 31 occasional (7.5%) HP:0100767
29 generalized myoclonic seizures 58 Very frequent (99-80%)
30 abnormality of the face 58 Very frequent (99-80%)
31 abdominal wall defect 58 Occasional (29-5%)
32 ligamentous laxity 58 Occasional (29-5%)
33 abnormality of the placenta 58 Occasional (29-5%)

Drugs & Therapeutics for Paternal Uniparental Disomy of Chromosome 6

Search Clinical Trials , NIH Clinical Center for Paternal Uniparental Disomy of Chromosome 6

Genetic Tests for Paternal Uniparental Disomy of Chromosome 6

Anatomical Context for Paternal Uniparental Disomy of Chromosome 6

MalaCards organs/tissues related to Paternal Uniparental Disomy of Chromosome 6:

40
Placenta

Publications for Paternal Uniparental Disomy of Chromosome 6

Articles related to Paternal Uniparental Disomy of Chromosome 6:

(show all 12)
# Title Authors PMID Year
1
[Prenatal diagnosis of two cases of paternal uniparental disomy of chromosome 6]. 61
29896734 2018
2
Permanent neonatal diabetes caused by abnormalities in chromosome 6q24. 61
29048742 2017
3
6q24 Transient Neonatal Diabetes - How to Manage while Waiting for Genetic Results. 61
27909691 2016
4
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. 61
23385738 2013
5
Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia. 61
20412110 2010
6
Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24. 61
17220064 2006
7
Diabetes Mellitus, 6q24-Related Transient Neonatal 61
20301706 2005
8
Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology. 61
15635480 2005
9
Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6. 61
11515730 2001
10
Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. 61
11038325 2000
11
Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus. 61
9880447 1999
12
Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus. 61
9894800 1998

Variations for Paternal Uniparental Disomy of Chromosome 6

Expression for Paternal Uniparental Disomy of Chromosome 6

Search GEO for disease gene expression data for Paternal Uniparental Disomy of Chromosome 6.

Pathways for Paternal Uniparental Disomy of Chromosome 6

GO Terms for Paternal Uniparental Disomy of Chromosome 6

Sources for Paternal Uniparental Disomy of Chromosome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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