HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME

Question 1

What is  HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME?

Accepted Answer

rare (~100 cases)

autosomal recessive

mutation in the SLC29A3 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 602782

Question 3

Which enzymes are involved?

Accepted Answer

Equilibrative nucleoside transporter 3

Disease	HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
Synonym	H SYNDROME
OMIM	602782 OMIM = Online Mendelian Inheritance of Men
Orphanet	168569
Protein (UniProt)	Equilibrative nucleoside transporter 3
Gene locus	10q22.1
ICD	D76.3
Summary	rare (~100 cases) autosomal recessive mutation in the SLC29A3 gene
Laboratory findings	D-Glucose normal/inc (serum)
Symptoms	cardiac involvement, cardiac defects cardiomegaly clinodactyly congenital heart defect contractures, joints diabetes mellitus fever hearing defect, deafness hepatomegaly (large liver) hyperglycemia hyperpigmentation hypertrichosis hypogonadism hypospadia onset, childhood onset, infancy short stature skin defects splenomegaly (large spleen)