CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIk

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIk?

Accepted Answer

rare
autosomal recessive
mutation in the TMEM165 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ IIk

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614727

Question 4

Which enzymes are involved?

Accepted Answer

Transmembrane protein 165

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIk
Synonym	CDG2K; TMEM165-CDG
OMIM	614727 OMIM = Online Mendelian Inheritance of Men
Orphanet	314667
Protein (UniProt)	Transmembrane protein 165
Gene locus	4q12
ICD	E77.8
Summary	rare autosomal recessive mutation in the TMEM165 gene
Laboratory findings	Creatine kinase inc (serum) IEF of serum transferrin, type 2 pattern (serum) Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms	dysmorphism epiphyseal dysplasia failure to thrive feeding difficulties, poor feeding fever growth retardation, poor growth hepatomegaly (large liver) hypotonia metaphyseal dysplasia microcephaly (<2 SD for age) MRI, brain, white matter abnormalities [-] muscle weakness onset, childhood osteoporosis psychomotor retardation short stature skoliosis, kyphoskoliosis thrombopenia, thrombocytopenia