TIMOTHY SYNDROME; TS

Question 1

What is  TIMOTHY SYNDROME; TS?

Accepted Answer

very rare (~10 cases)

autosomal dominant

mutation in the CACNA1C gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Timothy-Syndrom; Long-QT-Syndrom - Syndaktylie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 601005

Question 4

Which enzymes are involved?

Accepted Answer

Voltage-dependent L-type calcium channel subunit alpha-1C

Disease	TIMOTHY SYNDROME; TS
OMIM	601005 OMIM = Online Mendelian Inheritance of Men
Orphanet	65283
Protein (UniProt)	Voltage-dependent L-type calcium channel subunit alpha-1C
Gene locus	12p13.33
ICD	I45.8
Summary	very rare (~10 cases) autosomal dominant mutation in the CACNA1C gene
Laboratory findings	D-Glucose normal/dec (plasma)
Symptoms	behavior, autism or autistic-like cardiac arrhythmia, dysrhythmia contractures, joints developmental delay dysmorphism flat depressed nasal bridge (saddle nose) hyperinsulinism hypocalcemia hypoglycemia hypotonia infections (respiratory tract/system) infections (severe or recurrent) learning disability low set ears mental retardation onset, childhood onset, infancy onset, neonatal pneumonia pulmonary hypertension seizures sparse or absent scalp hair (focal or general) syndactyly Teeth: generalized defect or abnormalities ventricular septal defect