Timothy syndrome

Preferred Label : Timothy syndrome;

Symbol : TS;

CISMeF acronym : LQT8; TS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Long qt syndrome with syndactyly;

Description : Timothy syndrome is characterized by multiorgan dysfunction, including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities, and autism (Splawski et al., 2004).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calcium channel, voltage-dependent, L type, alpha 1C subunit gene (CACNA1C, 114205.0001);

Laboratory abnormalities : Hypocalcemia (in some patients); Hypoglycemia (in some patients);

Prefixed ID : #601005;

Details

Origin ID

601005;

UMLS CUI

C1832916;

Automatic exact mappings (from CISMeF team)
- Chromosomal Translocation [NCIt concept]
- Lower case Roman letter t (qualifier value) [SNOMED CT concept]
- Social Workers [MeSH Descriptor]
- T Category [NCIt concept]
- T category (observable entity) [SNOMED CT concept]
- TBXT Gene [NCIt concept]
- TYMS wt Allele [NCIt concept]
- Tablespoon Dosing Unit [NCIt concept]
- Teaspoon Dosing Unit [NCIt concept]
- Tera [NCIt concept]
- Tesla [NCIt concept]
- Time [NCIt concept]
- Topical Route of Administration [NCIt concept]
- Tourette syndrome [ORDO Disease]
- Trial Summary Domain [NCIt concept]
- Tricuspid Valve Stenosis [NCIt concept]
- Tropical sprue [ICD-11 Sub-sub category]
- Tunisia [NCIt concept]
- Tympanosclerosis [ICD-11 Category]
- Upper case Roman letter T (qualifier value) [SNOMED CT concept]
- Virus-associated trichodysplasia spinulosa [ORDO Disease]
- bleeding time [MeSH Descriptor]
- bleeding time [Blood Transfusion thesaurus concept]
- blood transfusion [MeSH Descriptor]
- calcium voltage-gated channel subunit alpha1 C [ORDO Gene]
- calcium voltage-gated channel subunit alpha1 C [HGNC gene]
- suicide, attempted [MeSH Descriptor]
- symbol withdrawn TS [HGNC gene]
- thromboxane A synthase 1 [ORDO Gene]
- thromboxane A synthase 1 [HGNC gene]
- thymidylate synthetase [ORDO Gene]
Currated CISMeF NLP mapping
- Long QT Syndrome 8 [NCIt concept]
- Long QT syndrome type 8 [ICD-11 More detail]
- Timothy syndrome [DO Concept]
- Timothy syndrome [Disease (Nov.)]
- Timothy syndrome [MedDRA Preferred Term]
- Timothy syndrome [MeSH concept]
- Timothy syndrome [ORDO Disease]
- Timothy syndrome (disorder) [SNOMED CT concept]
- timothy syndrome [MeSH Supplementary Concept]
DO Cross reference
- Timothy syndrome [DO Concept]
Genes related to phenotype
- Calcium channel, voltage-dependent, L type, alpha-1c subunit [OMIM gene]
HPO term(s)
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradycardia [HPO term]
- Bronchitis [HPO term]
- Cardiomegaly [HPO term]
- Cutaneous syndactyly [HPO term]
- Depressed nasal bridge [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypocalcemia [HPO term]
- Hypoglycemia [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability [HPO term]
- Microdontia [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Pneumonia [HPO term]
- Prolonged QT interval [HPO term]
- Recurrent infections [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Sudden death [HPO term]
- Syndactyly [HPO term]
- Tetralogy of Fallot [HPO term]
- Thin upper lip vermilion [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Familial long QT syndrome [ORDO Disease]
- Timothy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Long QT Syndrome 8 [NCIt concept]
- Long QT syndrome type 8 [ICD-11 More detail]
- Timothy syndrome [ORDO Disease]
- Timothy syndrome [MeSH concept]
- Timothy syndrome [DO Concept]
- Timothy syndrome [Disease (Nov.)]
- Timothy syndrome [MedDRA Preferred Term]
- Timothy syndrome (disorder) [SNOMED CT concept]
- Timothy syndrome type 1 (disorder) [SNOMED CT concept]
- timothy syndrome [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Timothy syndrome type 1 (disorder) [SNOMED CT concept]

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