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

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Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Paternal Uniparental Disomy of Chromosome 6:

Name: Paternal Uniparental Disomy of Chromosome 6 54
 
Upd(6)pat 54

Classifications:



External Ids:

Orphanet54 ORPHA96191
ICD10 via Orphanet31 Q99.8

Summaries for Paternal Uniparental Disomy of Chromosome 6

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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

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Graphical network of 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

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Drugs & Therapeutics for Paternal Uniparental Disomy of Chromosome 6

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Paternal Uniparental Disomy of Chromosome 6

Genetic Tests for Paternal Uniparental Disomy of Chromosome 6

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Anatomical Context for Paternal Uniparental Disomy of Chromosome 6

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

36
Testes

Publications for Paternal Uniparental Disomy of Chromosome 6

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Articles related to Paternal Uniparental Disomy of Chromosome 6:

idTitleAuthorsYear
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

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Expression for genes affiliated with Paternal Uniparental Disomy of Chromosome 6

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

Pathways for genes affiliated with Paternal Uniparental Disomy of Chromosome 6

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GO Terms for genes affiliated with Paternal Uniparental Disomy of Chromosome 6

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Sources for Paternal Uniparental Disomy of Chromosome 6

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet