Visit Metagene.de!
Summary
NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA
256700
OMIM = Online Medalian Inheritance of Men
635
17q21.32, 1p36.22
rare
autosomal dominant
symptoms
anemia
ataxia
diarrhea
failure to thrive
fever
hepatomegaly (large liver)
hypertension
myoclonus
onset, infancy
onset, neonatal
pain, abdominal
pain, bones or joints
laboratory finding
Homovanillic acid0.000.00 increasedurineno data
Vanillylmandelic acid (VMA)0.000.00 increasedurineno data
Dopamine increasedurine
Literature
Guo Y,Liming L, Jiang LTwo novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine diseaseMetab Brain Dis3061395-14002015
Zinnanti WJ,Lazovic JInterrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathyJ Inherit Metab Dis35171-792012
Li X,et al.Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight casesEur J Med Genet5811617-6232015