MCID: PTR018
MIFTS: 22

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 HYMAI (Hydatidiform Mole Associated And Imprinted). Affiliated tissues include placenta and testes, 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:

60 33 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000218
2 precocious puberty 60 33 hallmark (90%) Very frequent (99-80%) HP:0000826
3 macroglossia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000158
4 gingival overgrowth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000212
5 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
6 umbilical hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001537
7 dehydration 60 33 hallmark (90%) Very frequent (99-80%) HP:0001944
8 cardiomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001640
9 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
10 generalized myoclonic seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002123
11 retrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000278
12 prominent occiput 60 33 hallmark (90%) Very frequent (99-80%) HP:0000269
13 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
14 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
15 postnatal growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008897
16 neonatal respiratory distress 60 33 hallmark (90%) Very frequent (99-80%) HP:0002643
17 ventricular septal defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0001629
18 oligohydramnios 60 33 hallmark (90%) Very frequent (99-80%) HP:0001562
19 hypoplastic fingernail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001804
20 abnormality of earlobe 60 33 hallmark (90%) Very frequent (99-80%) HP:0000363
21 prominent nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000448
22 small anterior fontanelle 60 33 hallmark (90%) Very frequent (99-80%) HP:0000237
23 neonatal insulin-dependent diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000857
24 shallow orbits 60 33 hallmark (90%) Very frequent (99-80%) HP:0000586
25 labial hypertrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000065
26 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
27 abnormality of the placenta 60 33 occasional (7.5%) Occasional (29-5%) HP:0100767
28 joint laxity 33 occasional (7.5%) HP:0001388
29 abnormality of the face 60 Very frequent (99-80%)
30 abdominal wall defect 60 Occasional (29-5%)
31 ligamentous laxity 60 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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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