CONGENITAL DISORDER OF GLYCOSYLATION (CSGALNACT1)

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION (CSGALNACT1)?

Accepted Answer

very rare

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616615

Question 3

Which enzymes are involved?

Accepted Answer

Chondroitin sulfate N-acetylgalactosaminyltransferase 1

Disease	CONGENITAL DISORDER OF GLYCOSYLATION (CSGALNACT1)
Synonym	CSGALNACT1-CDG
OMIM	616615 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Chondroitin sulfate N-acetylgalactosaminyltransferase 1
ExPASy	2.4.1.174
Gene locus	8p21.3
ICD
Summary	very rare
Laboratory findings
Symptoms	dysmorphism joint laxity onset, childhood onset, infancy short stature skeletal changes, skeletal abnormalities speech development, delayed, abnormal syndactyly