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Summary
SOTOS SYNDROME 1 SOTOS1
CEREBRAL GIGANTISM
117550
OMIM = Online Medalian Inheritance of Men
821
5q35.3
  • no specific treatment
  • symptomatic therapy
rare (>150 cases)
autosomal dominant
mutation in the nuclear receptor binding SET domain protein 1 gene
symptoms
Amino acids, plasma
atrial septal defect
behavior, abnormal or bizarre, confusion
behavior, anxiety
cardiomegaly
cataract
cutis laxa
dermatoglyphic abnormalities
developmental delay
dolichocephaly
downward slanting fissure (antimongoloid slant)
dysmorphism
hernia
high arched palate
high birthweight (large for gestational age)
hyperopia
hyperreflexia
hypertelorism
hypertrichosis
hypoglycemia
hypotonia
infections (severe or recurrent)
large hands/feet
learning disability
macrocephaly (large calvaria, >2 SD for age)
malignant tumor (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma)Wilms)
mental retardation
nystagmus
pigmentation, skin and sclera
prominent forehead
renal dysfunction, renal defects
seizures
strabismus
Teeth: premature eruption
ventricular septal defect
laboratory finding
CT, brain, abnormalities -
MRI, brain, abnormalities -
EEG abnormalities -
Glycine/valine ratio 0.830.83normal/decreasedplasma
Literature
Boles RGet al.Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of lifeJ Pediatr1326924-9331998
McCabe RBDisorders of glycerol metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101631-16521995
Greulich T,Vogelmeier CFAlpha-1-antitrypsin deficiency: increasing awareness and improving diagnosisTher Adv Respir Dis10172-842016
Boles RGet al.Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of lifeJ Pediatr1326924-9331998
McCabe RBDisorders of glycerol metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101631-16521995
Vianey-Saban Cet al.Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patientsClin Chim Acta269043-621998
McElvaney NGDiagnosing alpha1-antitrypsin deficiency: how to improve the current algorithmEur Respir Rev2413552-572015
Tyni Tet al.Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutationCurr Eye Res170551-5591998
Jansen EE,et al.A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometry.J Chromatogr B Analyt Technol Biomed Life Sci8302196-2002006