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 58 12 30 13 74

Classifications:



External Ids:

Disease Ontology 12 DOID:0060416
OMIM 58 612345
MedGen 43 C2676724
UMLS 74 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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Celiprolol Approved, Investigational Phase 4 56980-93-9
2 Adrenergic Agents Phase 4
3 Peripheral Nervous System Agents Phase 4
4 Vasodilator Agents Phase 4
5 Anti-Arrhythmia Agents Phase 4
6 Neurotransmitter Agents Phase 4
7 Antihypertensive Agents Phase 4
8 Adrenergic beta-1 Receptor Antagonists Phase 4
9 Adrenergic beta-Antagonists Phase 4
10 Adrenergic Antagonists Phase 4
11 Autonomic Agents Phase 4
12 Sympathomimetics 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 30

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 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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