MCID: PTR018
MIFTS: 13

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:
30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for Paternal Uniparental Disomy of Chromosome 6:

Name: Paternal Uniparental Disomy of Chromosome 6 53
 
Upd(6)pat 53

Classifications:



External Ids:

Orphanet53 ORPHA96191
ICD10 via Orphanet30 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 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:

35
Testes

Animal Models for Paternal Uniparental Disomy of Chromosome 6 or affiliated genes

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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet