CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, WITH CONGENITAL DISORDER OF GLYCOSYLATION; ARCL2A (CDG)

Question 1

What is  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, WITH CONGENITAL DISORDER OF GLYCOSYLATION; ARCL2A (CDG)?

Accepted Answer

rare
autosomal recessive
mutations in the ATP6V0A2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Cutis laxa, autosomal-rezessive, Typ 2A

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 219200

Question 4

Which enzymes are involved?

Accepted Answer

V-type proton ATPase 116 kDa subunit a isoform 2

Disease	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, WITH CONGENITAL DISORDER OF GLYCOSYLATION; ARCL2A (CDG)
Synonym	ATP6V0A2-CDG; CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA
OMIM	219200 OMIM = Online Mendelian Inheritance of Men
Orphanet	357058
Protein (UniProt)	V-type proton ATPase 116 kDa subunit a isoform 2
ExPASy	3.6.3.6
Gene locus	12q24.31
ICD	Q82.8
Summary	rare autosomal recessive mutations in the ATP6V0A2 gene
Laboratory findings	IEF of serum transferrin, type 2 pattern (serum) Transaminases (ASAT/ALAT) inc (plasma)
Symptoms	cutis laxa dysmorphism failure to thrive feeding difficulties, poor feeding growth retardation, poor growth hair, abnormal (thin, brittle, fine) hypotonia joint hypermobilty, dislocations, laxity joint laxity lipodystrophia microcephaly (<2 SD for age) MRI, brain, abnormalities [-] myopia onset, infancy onset, neonatal psychomotor retardation seizures strabismus