MCID: PTR018
MIFTS: 14

Paternal Uniparental Disomy of Chromosome 6 malady

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Paternal Uniparental Disomy of Chromosome 6

Aliases & Descriptions for Paternal Uniparental Disomy of Chromosome 6:

Name: Paternal Uniparental Disomy of Chromosome 6 56
Upd(6)pat 56

Classifications:



External Ids:

Orphanet 56 ORPHA96191
ICD10 via Orphanet 34 Q99.8

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 mellitus and macroglossia. An important gene associated with Paternal Uniparental Disomy of Chromosome 6 is PLAGL1 (PLAG1 Like Zinc Finger 1). Affiliated tissues include testes.

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

Drugs & Therapeutics for Paternal Uniparental Disomy of Chromosome 6

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

39
Testes

Publications for Paternal Uniparental Disomy of Chromosome 6

Articles related to Paternal Uniparental Disomy of Chromosome 6:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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