CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B

Question 1

What is  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B?

Accepted Answer

rare
autosomal recessive
mutation in the PYCR1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Cutis laxa, autosomal-rezessive, Typ 2B

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 612940

Question 4

Which enzymes are involved?

Accepted Answer

Pyrroline-5-carboxylate reductase 1, mitochondrial

Disease	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B
Synonym	PYRROLINE-5-CARBOXYLATE REDUCTASE DEFICIENCY
OMIM	612940 OMIM = Online Mendelian Inheritance of Men
Orphanet	357064
Protein (UniProt)	Pyrroline-5-carboxylate reductase 1, mitochondrial
ExPASy	1.5.1.2
Gene locus	17q25.3
ICD	Q82.8
Summary	rare autosomal recessive mutation in the PYCR1 gene
Laboratory findings	no metabolic abnormalities ()
Symptoms	cutis laxa failure to thrive growth retardation, poor growth joint hypermobilty, dislocations, laxity microcephaly (<2 SD for age) onset, infancy onset, neonatal skin hyperelasticity visible veins