Timothy syndrome
Information
- Disease name
- Timothy syndrome
- Disease ID
- DOID:0060173
- Description
- "A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene." [url:http\://www.ncbi.nlm.nih.gov/books/NBK1403/, url:https\://ghr.nlm.nih.gov/condition/timothy-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15863612]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:9294
- Cross Reference ID (Disease Ontology)
- ICD10CM:G72.3
- Cross Reference ID (Disease Ontology)
- MESH:C536962
- Cross Reference ID (Disease Ontology)
- MIM:601005
- Cross Reference ID (Disease Ontology)
- ORDO:65283
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1832916
- Disase Synonym (Disease Ontology)
- long QT syndrome with syndactyly
- OrphaNumber from OrphaNet (Orphanet)
- 65283
- MedGen concept unique identifier (MedGen Concept name)
- C1832916
- MedGen unique identifier (MedGen Concept name)
- 331395