MCID: PTR018
MIFTS: 23

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 diabetes mellitus, transient neonatal, 1 and neonatal diabetes mellitus, and has symptoms including cryptorchidism, labial hypertrophy and macroglossia. An important gene associated with Paternal Uniparental Disomy of Chromosome 6 is PLAGL1 (PLAG1 Like Zinc Finger 1). Affiliated tissues include placenta and testes.

Related Diseases for 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:

55 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000028
2 labial hypertrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000065
3 macroglossia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000158
4 gingival overgrowth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000212
5 high palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000218
6 small anterior fontanelle 55 31 hallmark (90%) Very frequent (99-80%) HP:0000237
7 prominent occiput 55 31 hallmark (90%) Very frequent (99-80%) HP:0000269
8 retrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000278
9 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
10 abnormality of earlobe 55 31 hallmark (90%) Very frequent (99-80%) HP:0000363
11 prominent nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0000448
12 shallow orbits 55 31 hallmark (90%) Very frequent (99-80%) HP:0000586
13 precocious puberty 55 31 hallmark (90%) Very frequent (99-80%) HP:0000826
14 neonatal insulin-dependent diabetes mellitus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000857
15 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
16 umbilical hernia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001537
17 oligohydramnios 55 31 hallmark (90%) Very frequent (99-80%) HP:0001562
18 ventricular septal defect 55 31 hallmark (90%) Very frequent (99-80%) HP:0001629
19 cardiomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001640
20 hypoplastic fingernail 55 31 hallmark (90%) Very frequent (99-80%) HP:0001804
21 dehydration 55 31 hallmark (90%) Very frequent (99-80%) HP:0001944
22 generalized myoclonic seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0002123
23 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
24 neonatal respiratory distress 55 31 hallmark (90%) Very frequent (99-80%) HP:0002643
25 postnatal growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0008897
26 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
27 abnormality of the placenta 55 31 occasional (7.5%) Occasional (29-5%) HP:0100767
28 abnormality of the face 55 Very frequent (99-80%)
29 ligamentous laxity 55 Occasional (29-5%)
30 abdominal wall defect 55 Occasional (29-5%)
31 joint laxity 31 occasional (7.5%) HP:0001388

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:

38
Placenta, Testes

Publications for Paternal Uniparental Disomy of Chromosome 6

Articles related to Paternal Uniparental Disomy of Chromosome 6:

# Title Authors Year
1
Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia. ( 20412110 )
2010
2
Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24. ( 17220064 )
2006
3
Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6. ( 11515730 )
2001
4
Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. ( 11038325 )
2000
5
Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus. ( 9880447 )
1999
6
Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus. ( 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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