CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq;CDG-Iq

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq;CDG-Iq?

Accepted Answer

rare
autosomal recessive
mutation in the SRD5A3 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Iq

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 612379

Question 4

Which enzymes are involved?

Accepted Answer

mutation in the steroid 5-alpha-reductase 3

Disease	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq;CDG-Iq
Synonym	CDG1Q; SRD5A3-CDG
OMIM	612379 OMIM = Online Mendelian Inheritance of Men
Orphanet	324737
Protein (UniProt)	mutation in the steroid 5-alpha-reductase 3
ExPASy	1.3.1.22
Gene locus	4q12
ICD	E77.8
Summary	rare autosomal recessive mutation in the SRD5A3 gene
Laboratory findings	IEF of serum transferrin, type 1 pattern (serum) Sialotransferrins (isoelectrofocussing) inc (serum)
Symptoms	ataxia cataract chorioretinal colobomata dysmorphism failure to thrive hypotonia ichthyosis impaired visual acuity mental retardation microcephaly (<2 SD for age) muscle weakness nystagmus onset, childhood onset, infancy onset, neonatal optic atrophy seizures skin defects