MCID: PTR018
MIFTS: 17

Paternal Uniparental Disomy of Chromosome 6 malady

Genetic diseases, Fetal diseases, Rare diseases, Neuronal diseases categories
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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 diabetes mellitus and neonatal diabetes mellitus. An important gene associated with Paternal Uniparental Disomy of Chromosome 6 is HYMAI (hydatidiform mole associated and imprinted (non-protein coding)). Affiliated tissues include testes.

Aliases & Classifications for Paternal Uniparental Disomy of Chromosome 6

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Sources:
48Orphanet, 26ICD10 via Orphanet
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Paternal Uniparental Disomy of Chromosome 6, Aliases & Descriptions:

Name: Paternal Uniparental Disomy of Chromosome 6 48
 
Upd(6)pat 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Neuronal diseases


External Ids:

ICD10 via Orphanet26 Q99.8

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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Drug clinical trials:

Search ClinicalTrials for Paternal Uniparental Disomy of Chromosome 6

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:

32
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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Expression patterns in normal tissues for genes affiliated with Paternal Uniparental Disomy of Chromosome 6

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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Compounds 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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Products for genes affiliated with Paternal Uniparental Disomy of Chromosome 6

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  • Antibodies
  • Proteins
  • Lysates

Sources for Paternal Uniparental Disomy of Chromosome 6

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet