MCID: CHR256
MIFTS: 11

Chromosome 6p Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 6p Duplication

MalaCards integrated aliases for Chromosome 6p Duplication:

Name: Chromosome 6p Duplication 54
Chromosome 6, Trisomy 6p 74
Partial Trisomy 6p 54
6p Duplication 54
Duplication 6p 54
6p Trisomy 54
Trisomy 6p 54

Classifications:



External Ids:

UMLS 74 C2931621

Summaries for Chromosome 6p Duplication

NIH Rare Diseases : 54 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 13)
# Related Disease Score Top Affiliating Genes
1 distal trisomy 6p 11.3
2 craniosynostosis 10.3
3 melanoma 10.1
4 choanal atresia, posterior 10.0
5 microcephaly 10.0
6 chromosome 20p deletion 10.0
7 trisomy 22 10.0
8 retinoblastoma 10.0
9 ocular melanoma 10.0
10 neurilemmoma 10.0
11 chromosomal triplication 10.0
12 ring chromosome 11 10.0
13 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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