MCID: CHR385
MIFTS: 11

Chromosome 2q31.2 Deletion Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosome 2q31.2 Deletion Syndrome

MalaCards integrated aliases for Chromosome 2q31.2 Deletion Syndrome:

Name: Chromosome 2q31.2 Deletion Syndrome 57 12 29 13 73

Classifications:



External Ids:

OMIM 57 612345
Disease Ontology 12 DOID:0060416
MedGen 42 C2676724
UMLS 73 C2676724

Summaries for Chromosome 2q31.2 Deletion Syndrome

MalaCards based summary : Chromosome 2q31.2 Deletion Syndrome An important gene associated with Chromosome 2q31.2 Deletion Syndrome is DEL2Q31 (Chromosome 2q31.2 Deletion Syndrome). The drugs Celiprolol and Adrenergic Agents have been mentioned in the context of this disorder.

Description from OMIM: 612345

Related Diseases for Chromosome 2q31.2 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 2q31.2 Deletion Syndrome

Clinical features from OMIM:

612345

Drugs & Therapeutics for Chromosome 2q31.2 Deletion Syndrome

Drugs for Chromosome 2q31.2 Deletion Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Celiprolol Approved, Investigational Phase 4 56980-93-9
2 Adrenergic Agents Phase 4
3 Adrenergic Antagonists Phase 4
4 Adrenergic beta-1 Receptor Antagonists Phase 4
5 Adrenergic beta-Antagonists Phase 4
6 Anti-Arrhythmia Agents Phase 4
7 Antihypertensive Agents Phase 4
8 Autonomic Agents Phase 4
9 Neurotransmitter Agents Phase 4
10 Peripheral Nervous System Agents Phase 4
11 Vasodilator Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4 celiprolol;Control

Search NIH Clinical Center for Chromosome 2q31.2 Deletion Syndrome

Genetic Tests for Chromosome 2q31.2 Deletion Syndrome

Genetic tests related to Chromosome 2q31.2 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 2q31.2 Deletion Syndrome 29

Anatomical Context for Chromosome 2q31.2 Deletion Syndrome

Publications for Chromosome 2q31.2 Deletion Syndrome

Variations for Chromosome 2q31.2 Deletion Syndrome

Expression for Chromosome 2q31.2 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 2q31.2 Deletion Syndrome.

Pathways for Chromosome 2q31.2 Deletion Syndrome

GO Terms for Chromosome 2q31.2 Deletion Syndrome

Sources for Chromosome 2q31.2 Deletion Syndrome

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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