NEUROBLASTOMA, SUSCEPTIBILITY TO

Question 1

What is  NEUROBLASTOMA, SUSCEPTIBILITY TO?

Accepted Answer

rare
autosomal dominant
mutations in the KIF1B gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Neuroblastom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 256700

Question 4

Which enzymes are involved?

Accepted Answer

Kinesin-like protein KIF1B

Disease	NEUROBLASTOMA, SUSCEPTIBILITY TO
Synonym	NEUROBLASTOMA
OMIM	256700 OMIM = Online Mendelian Inheritance of Men
Orphanet	635
Protein (UniProt)	Kinesin-like protein KIF1B
Gene locus	17q21.32, 1p36.22
ICD	C74.9
Summary	rare autosomal dominant mutations in the KIF1B gene
Laboratory findings	Dopamine inc (urine) Homovanillic acid (HVA) inc (urine) Vanillylmandelic acid (VMA) inc (urine)
Symptoms	anemia ataxia diarrhea failure to thrive fever hepatomegaly (large liver) hypertension myoclonus onset, infancy onset, neonatal pain, abdominal pain, bones or joints