MCID: CHR256
MIFTS: 12

Chromosome 6p Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 6p Duplication

MalaCards integrated aliases for Chromosome 6p Duplication:

Name: Chromosome 6p Duplication 53
Chromosome 6, Trisomy 6p 73
Partial Trisomy 6p 53
6p Duplication 53
Duplication 6p 53
6p Trisomy 53
Trisomy 6p 53

Classifications:



External Ids:

UMLS 73 C2931621

Summaries for Chromosome 6p Duplication

NIH Rare Diseases : 53 Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from a parent with the duplication (who is mildy affected) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 6p Duplication, also known as chromosome 6, trisomy 6p, is related to distal trisomy 6p and craniosynostosis.

Related Diseases for Chromosome 6p Duplication

Diseases related to Chromosome 6p Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 distal trisomy 6p 11.2
2 craniosynostosis 10.2
3 melanoma 10.1
4 choanal atresia, posterior 10.0
5 microcephaly 10.0
6 trisomy 22 10.0
7 retinoblastoma 10.0
8 chromosomal triplication 9.9
9 ocular melanoma 9.9
10 ring chromosome 11 9.9
11 cakut 9.9

Graphical network of the top 20 diseases related to Chromosome 6p Duplication:



Diseases related to Chromosome 6p Duplication

Symptoms & Phenotypes for Chromosome 6p Duplication

Drugs & Therapeutics for Chromosome 6p Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 6p Duplication

Genetic Tests for Chromosome 6p Duplication

Anatomical Context for Chromosome 6p Duplication

Publications for Chromosome 6p Duplication

Articles related to Chromosome 6p Duplication:

# Title Authors Year
1
Anesthetic management of a patient with chromosome 6p duplication: a case report. ( 28879342 )
2017
2
Concordance between parental origin of chromosome 13q loss and chromosome 6p duplication in sporadic retinoblastoma. ( 8304344 )
1994

Variations for Chromosome 6p Duplication

Expression for Chromosome 6p Duplication

Search GEO for disease gene expression data for Chromosome 6p Duplication.

Pathways for Chromosome 6p Duplication

GO Terms for Chromosome 6p Duplication

Sources for Chromosome 6p Duplication

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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