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. An important gene associated with Paternal Uniparental Disomy of Chromosome 6 is PLAGL1 (PLAG1 Like Zinc Finger 1). Affiliated tissues include placenta and testes, and related phenotypes are high palate and precocious puberty

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:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
2 precocious puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000826
3 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
4 gingival overgrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000212
5 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
6 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
7 dehydration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001944
8 cardiomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001640
9 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
10 generalized myoclonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002123
11 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
12 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
13 prominent occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0000269
14 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
15 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
16 postnatal growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008897
17 ventricular septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001629
18 oligohydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001562
19 hypoplastic fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001804
20 abnormality of earlobe 59 32 hallmark (90%) Very frequent (99-80%) HP:0000363
21 prominent nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000448
22 neonatal respiratory distress 59 32 hallmark (90%) Very frequent (99-80%) HP:0002643
23 neonatal insulin-dependent diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000857
24 small anterior fontanelle 59 32 hallmark (90%) Very frequent (99-80%) HP:0000237
25 shallow orbits 59 32 hallmark (90%) Very frequent (99-80%) HP:0000586
26 abnormality of the placenta 59 32 occasional (7.5%) Occasional (29-5%) HP:0100767
27 labial hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000065
28 abnormality of the face 59 Very frequent (99-80%)
29 joint laxity 32 occasional (7.5%) HP:0001388
30 abdominal wall defect 59 Occasional (29-5%)
31 ligamentous laxity 59 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:

41
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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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