GREENBERG SKELATAL DYSPLASIA (GRBGD)

Question 1

What is  GREENBERG SKELATAL DYSPLASIA (GRBGD)?

Accepted Answer

very rare

autosomal recessive
mutation in the LBR gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 215140

Question 3

Which enzymes are involved?

Accepted Answer

n Delta(14)-sterol reductase LBR

Disease	GREENBERG SKELATAL DYSPLASIA (GRBGD)
Synonym	STEROL C14 REDUCTASE DEFICIENCY
OMIM	215140 OMIM = Online Mendelian Inheritance of Men
Orphanet	1426
Protein (UniProt)	n Delta(14)-sterol reductase LBR
ExPASy	1.3.1.70
Gene locus	1q42.12
ICD	Q77.3
Summary	very rare autosomal recessive mutation in the LBR gene
Laboratory findings	Cholesta-8,14-dien-3β-ol inc (fibroblasts)
Symptoms	cystic hygroma dysmorphism early death hydrops fetalis laryngeal and tracheal calcification omphalocele (exomphalos) onset, fetus onset, neonatal polydactyly rhizomelia short stature