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Summary
TIMOTHY SYNDROME TS
601005
OMIM = Online Medalian Inheritance of Men
65283
12p13.33
very rare (~10 cases)
autosomal dominant
mutation in the CACNA1C gene
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
laboratory finding
D-Glucose mmol/mol Creaplasma
Literature
Mayatepek E,et al.Synthesis and metabolism of leukotrienes in gamma-glutamyl transpeptidase deficiencyJ Lipid Res455900-9042004
Fu R,et al.A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasiaMedicine (Baltimore)9621e69942017
Bizzarri C,et al.Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiencyItal J Pediatr431572017
Mayatepek E,Zelezny R, Hoffmann GFAnalysis of leukotrienes in cerebrospinal fluid of a reference population and patients with inborn errors of metabolism: further evidence for a pathognomonic profile in LTC(4)-synthesis deficiencyClin Chim Acta2921155-1622000