Cohen syndrome
Information
- Disease name
- Cohen syndrome
- Disease ID
- DOID:0111590
- Description
- "A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2." [url:https\://ghr.nlm.nih.gov/condition/cohen-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/12730828, url:https\://www.ncbi.nlm.nih.gov/pubmed/24334764]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01907555 | Completed | Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes | July 24, 2013 | September 13, 2016 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:6126
- Cross Reference ID (Disease Ontology)
- MEDDRA:10049066
- Cross Reference ID (Disease Ontology)
- MESH:C536438
- Cross Reference ID (Disease Ontology)
- MIM:216550
- Cross Reference ID (Disease Ontology)
- ORDO:193
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:56604005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0265223
- Exact Synonym (Disease Ontology)
- COH1
- Exact Synonym (Disease Ontology)
- Hypotonia, obesity, and prominent incisors
- Exact Synonym (Disease Ontology)
- Pepper syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 193