MCID: CHR238
MIFTS: 13

Chromosome 2p Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 2p Duplication

MalaCards integrated aliases for Chromosome 2p Duplication:

Name: Chromosome 2p Duplication 53
Chromosome 2, Trisomy 2p 73
Partial Trisomy 2p 53
2p Duplication 53
Duplication 2p 53
2p Trisomy 53
Trisomy 2p 53

Classifications:



External Ids:

UMLS 73 C0795803

Summaries for Chromosome 2p Duplication

NIH Rare Diseases : 53 Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. 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 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 2p Duplication, also known as chromosome 2, trisomy 2p, is related to distal trisomy 2p and neuroblastoma. Affiliated tissues include heart.

Related Diseases for Chromosome 2p Duplication

Diseases related to Chromosome 2p Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 distal trisomy 2p 11.2
2 neuroblastoma 10.0
3 heart disease 10.0
4 chromosome 2q deletion 10.0
5 polydactyly 10.0
6 anencephaly 10.0
7 chromosomal triplication 10.0

Graphical network of the top 20 diseases related to Chromosome 2p Duplication:



Diseases related to Chromosome 2p Duplication

Symptoms & Phenotypes for Chromosome 2p Duplication

Drugs & Therapeutics for Chromosome 2p Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 2p Duplication

Genetic Tests for Chromosome 2p Duplication

Anatomical Context for Chromosome 2p Duplication

MalaCards organs/tissues related to Chromosome 2p Duplication:

41
Heart

Publications for Chromosome 2p Duplication

Articles related to Chromosome 2p Duplication:

# Title Authors Year
1
Clinical manifestations of partial trisomy 2p. ( 25322981 )
2014
2
Metachronous Neuroblastoma in an Infant With Germline Translocation Resulting in Partial Trisomy 2p: A Role for ALK? ( 24276038 )
2013
3
Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement. ( 23652918 )
2013
4
Congenital heart disease reminiscent of partial trisomy 2p syndrome in mice transgenic for the transcription factor Lbh. ( 15958514 )
2005
5
Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue. ( 10751094 )
2000

Variations for Chromosome 2p Duplication

Expression for Chromosome 2p Duplication

Search GEO for disease gene expression data for Chromosome 2p Duplication.

Pathways for Chromosome 2p Duplication

GO Terms for Chromosome 2p Duplication

Sources for Chromosome 2p 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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