MCID: UNP007
MIFTS: 14

Uniparental Disomy of Chromosome 6

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Uniparental Disomy of Chromosome 6

MalaCards integrated aliases for Uniparental Disomy of Chromosome 6:

Name: Uniparental Disomy of Chromosome 6 53 59
Upd(6)mat 53
Upd(6)pat 53
Upd(6) 59

Classifications:



External Ids:

Orphanet 59 ORPHA263024

Summaries for Uniparental Disomy of Chromosome 6

MalaCards based summary : Uniparental Disomy of Chromosome 6, also known as upd(6)mat, is related to paternal uniparental disomy of chromosome 6 and maternal uniparental disomy of chromosome 6. An important gene associated with Uniparental Disomy of Chromosome 6 is TNDM (Diabetes Mellitus, Transient Neonatal). Affiliated tissues include testes.

Related Diseases for Uniparental Disomy of Chromosome 6

Graphical network of the top 20 diseases related to Uniparental Disomy of Chromosome 6:



Diseases related to Uniparental Disomy of Chromosome 6

Symptoms & Phenotypes for Uniparental Disomy of Chromosome 6

Drugs & Therapeutics for Uniparental Disomy of Chromosome 6

Search Clinical Trials , NIH Clinical Center for Uniparental Disomy of Chromosome 6

Genetic Tests for Uniparental Disomy of Chromosome 6

Anatomical Context for Uniparental Disomy of Chromosome 6

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

41
Testes

Publications for Uniparental Disomy of Chromosome 6

Articles related to Uniparental Disomy of Chromosome 6:

(show all 18)
# Title Authors PMID Year
1
[Prenatal diagnosis of two cases of paternal uniparental disomy of chromosome 6]. 38
29896734 2018
2
Permanent neonatal diabetes caused by abnormalities in chromosome 6q24. 38
29048742 2017
3
The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism? 38
29178649 2017
4
Two IUGR foetuses with maternal uniparental disomy of chromosome 6 or UPD(6)mat. 38
27922284 2017
5
Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures. 38
27500688 2016
6
6q24 Transient Neonatal Diabetes - How to Manage while Waiting for Genetic Results. 38
27909691 2016
7
[Application of chromosome microarray analysis for prenatal diagnosis of a fetus with partial duplication of 1p and uniparental disomy of chromosome 6]. 38
26663056 2015
8
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. 38
23385738 2013
9
Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia. 38
20412110 2010
10
Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report. 38
19469585 2009
11
Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24. 38
17220064 2006
12
Diabetes Mellitus, 6q24-Related Transient Neonatal 38
20301706 2005
13
Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology. 38
15635480 2005
14
Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6. 38
11515730 2001
15
Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. 38
11038325 2000
16
Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus. 38
9880447 1999
17
Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus. 38
9894800 1998
18
[Neonatal diabetes mellitus caused by congenital absence of beta cells associated with methylmalonic acidemia due to uniparental disomy of chromosome 6]. 38
7735457 1995

Variations for Uniparental Disomy of Chromosome 6

Expression for Uniparental Disomy of Chromosome 6

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

Pathways for Uniparental Disomy of Chromosome 6

GO Terms for Uniparental Disomy of Chromosome 6

Sources for Uniparental Disomy of Chromosome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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