MCID: CHR384
MIFTS: 11

Chromosome 2p12-P11.2 Deletion Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosome 2p12-P11.2 Deletion Syndrome

MalaCards integrated aliases for Chromosome 2p12-P11.2 Deletion Syndrome:

Name: Chromosome 2p12-P11.2 Deletion Syndrome 57 12 29 13 70

Classifications:



External Ids:

Disease Ontology 12 DOID:0060414
OMIM® 57 613564
UMLS 70 C3150804

Summaries for Chromosome 2p12-P11.2 Deletion Syndrome

Disease Ontology : 12 A chromosomal deletion syndrome that has material basis in deletion of the chromosome 2p12-p11.2 region.

MalaCards based summary : Chromosome 2p12-P11.2 Deletion Syndrome An important gene associated with Chromosome 2p12-P11.2 Deletion Syndrome is DEL2P12P11.2 (Chromosome 2p12-P11.2 Deletion Syndrome).

More information from OMIM: 613564

Related Diseases for Chromosome 2p12-P11.2 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 2p12-P11.2 Deletion Syndrome

Clinical features from OMIM®:

613564 (Updated 20-May-2021)

Drugs & Therapeutics for Chromosome 2p12-P11.2 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 2p12-P11.2 Deletion Syndrome

Genetic Tests for Chromosome 2p12-P11.2 Deletion Syndrome

Genetic tests related to Chromosome 2p12-P11.2 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 2p12-P11.2 Deletion Syndrome 29

Anatomical Context for Chromosome 2p12-P11.2 Deletion Syndrome

Publications for Chromosome 2p12-P11.2 Deletion Syndrome

Articles related to Chromosome 2p12-P11.2 Deletion Syndrome:

# Title Authors PMID Year
1
Interstitial deletion 2p11.2-p12: further delineation. 57
19764038 2009
2
Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature. 57
19161151 2009
3
Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences. 57
15657610 2005
4
Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin. 57
10533028 1999
5
Interstitial deletion 2(p11.2p13): a rare chromosomal abnormality. 57
9272715 1997
6
De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data. 57
8151644 1994
7
Deletion of chromosome 2 (p11-p13): case report and review. 57
8411037 1993

Variations for Chromosome 2p12-P11.2 Deletion Syndrome

Expression for Chromosome 2p12-P11.2 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 2p12-P11.2 Deletion Syndrome.

Pathways for Chromosome 2p12-P11.2 Deletion Syndrome

GO Terms for Chromosome 2p12-P11.2 Deletion Syndrome

Sources for Chromosome 2p12-P11.2 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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