MCID: CHR237
MIFTS: 9

Chromosome 2p Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 2p Deletion

MalaCards integrated aliases for Chromosome 2p Deletion:

Name: Chromosome 2p Deletion 54
Partial Monosomy 2p 54
2p Deletion 54
2p Monosomy 54
Deletion 2p 54
Monosomy 2p 54

Classifications:



Summaries for Chromosome 2p Deletion

NIH Rare Diseases : 54 Chromosome 2p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located 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 deletion and which genes are involved. Features that often occur in people with chromosome 2p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 2p Deletion, also known as partial monosomy 2p, is related to metanephric adenoma and adenoma.

Related Diseases for Chromosome 2p Deletion

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

# Related Disease Score Top Affiliating Genes
1 metanephric adenoma 10.0
2 adenoma 10.0
3 chromosomal triplication 10.0
4 chromosome 4q duplication 10.0
5 feingold syndrome 1 9.9
6 fibroma 9.9
7 chondromyxoid fibroma 9.9

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



Diseases related to Chromosome 2p Deletion

Symptoms & Phenotypes for Chromosome 2p Deletion

Drugs & Therapeutics for Chromosome 2p Deletion

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

Genetic Tests for Chromosome 2p Deletion

Anatomical Context for Chromosome 2p Deletion

Publications for Chromosome 2p Deletion

Articles related to Chromosome 2p Deletion:

# Title Authors Year
1
Partial monosomy 2p and partial trisomy 4q due to paternal translocation t(2;4)(p25.1;q31.3). ( 25145019 )
2014
2
Partial monosomy 2p as the single chromosomal anomaly in a case of renal metanephric adenoma. ( 10565308 )
1999

Variations for Chromosome 2p Deletion

Expression for Chromosome 2p Deletion

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

Pathways for Chromosome 2p Deletion

GO Terms for Chromosome 2p Deletion

Sources for Chromosome 2p Deletion

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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