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GENATLAS PHENOTYPE

last update : 13-10-2015

Symbol	P5CSD
Location	10q24.1
Name	P5CS deficiency
Other name(s)	cutis laxa, corneal clouding, and mental retardation progeroid syndrome of de Barsy cutis laxa, autosomal recessive, TYPE IIIA
Corresponding gene	ALDH18A1
Other symbol(s)	P5CS, ARCL3A
Main clinical features	failure to thrive, vomiting, and progressive neurologic dysfunction with bilateral subcapsular cataracts characterized by progressive neurodegeneration, joint laxity, skin hyperelasticity and bilateral subcapsular cataracts; also cases presenting cutis laxa, microcephaly, white matter underdevelopment, elastic fibers abnormalities, mental retardation syndrome hyperammonemia with hypoornithinemia, hypocitrullinemia, hypoargininemia, and hypoprolinemia
Genetic determination	autosomal recessive
Function/system disorder	metabolism/aminoacids
	eye
	neurology
	dermatology
Type	disease

Gene product

Name	delta 1 pyroline-5-carboxylate synthetase

Remark(s)

recurrent de novo mutations, affecting the highly conserved residue Arg138 of ALDH18A1, cause an autosomal-dominant form of cutis laxa with progeroid features (PMID: 26320891))