SCHNECKENBECKEN DYSPLASIA (CDG)

Question 1

What is  SCHNECKENBECKEN DYSPLASIA (CDG)?

Accepted Answer

rare
autosomal recessive
mutation in the SLC35D1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Schneckenbecken-Dysplasie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 269250

Question 4

Which enzymes are involved?

Accepted Answer

UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter

Disease	SCHNECKENBECKEN DYSPLASIA (CDG)
Synonym	SLC35D1-CDG; CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVIS
OMIM	269250 OMIM = Online Mendelian Inheritance of Men
Orphanet	3144
Protein (UniProt)	UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter
Gene locus	1p31.3
ICD	Q77.7
Summary	rare autosomal recessive mutation in the SLC35D1 gene
Laboratory findings
Symptoms	cleft palate clubfoot dwarfism onset, fetus onset, neonatal polyhydramnion (maternal) shortening of long bones skeletal changes, skeletal abnormalities