MCID: PTR018
MIFTS: 14

Paternal Uniparental Disomy of Chromosome 6 malady

Genetic diseases, Fetal diseases, Rare diseases, Neuronal diseases categories

Summaries for Paternal Uniparental Disomy of Chromosome 6

About this section


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 HYMAI (hydatidiform mole associated and imprinted (non-protein coding)). Affiliated tissues include testes.

Aliases & Classifications for Paternal Uniparental Disomy of Chromosome 6

About this section
Sources:
47Orphanet, 26ICD10 via Orphanet
See all sources

Paternal Uniparental Disomy of Chromosome 6, Aliases & Descriptions:

Name: Paternal Uniparental Disomy of Chromosome 6 47
 
Upd(6)pat 47


Classifications:

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


External Ids:

Orphanet47 96191
ICD10 via Orphanet26 Q99.8

Related Diseases for Paternal Uniparental Disomy of Chromosome 6

About this section

Symptoms for Paternal Uniparental Disomy of Chromosome 6

About this section

Drugs & Therapeutics for Paternal Uniparental Disomy of Chromosome 6

About this section

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

About this section

Anatomical Context for Paternal Uniparental Disomy of Chromosome 6

About this section

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

31
Testes

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

About this section

Publications for Paternal Uniparental Disomy of Chromosome 6

About this section

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

About this section

Expression for genes affiliated with Paternal Uniparental Disomy of Chromosome 6

About this section
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

About this section

Compounds for genes affiliated with Paternal Uniparental Disomy of Chromosome 6

About this section

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

About this section

Products for genes affiliated with Paternal Uniparental Disomy of Chromosome 6

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Paternal Uniparental Disomy of Chromosome 6

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet