Details of Disease | DrugMAP

General Information of Disease (ID: DIST6TR0)

Disease Name	ALDH18A1-related de Barsy syndrome
Synonyms	progeroid syndrome of De Barsy; cutis laxa, autosomal recessive, type 3A; autosomal recessive cutis laxa type IIIA; De Barsy syndrome a; cutis laxa, corneal clouding, and intellectual disability; cutis laxa, autosomal recessive, type IIIA; cutis laxa, corneal clouding, and mental retardation; P5CS deficiency; ARCL3A; Delta-1-pyrroline 5-carboxylate synthetase deficiency; neurocutaneous syndrome, Bicknell type; De Barsy syndrome A
Definition	ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.
Disease Hierarchy	DISMFQKM: Developmental anomaly of metabolic origin DISUFH0J: P5CS deficiency DISUQYF3: De Barsy syndrome DIS0OJ0Q: Inherited cutis laxa DIST6TR0: ALDH18A1-related de Barsy syndrome
Disease Identifiers	MONDO ID MONDO_0009053 UMLS CUI C5234852 OMIM ID 219150 MedGen ID 1720006 Orphanet ID 35664

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALDH18A1	OT6W40XU	Definitive	Autosomal recessive	[1]
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References

1	A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Eur J Hum Genet. 2008 Oct;16(10):1176-86. doi: 10.1038/ejhg.2008.91. Epub 2008 May 14.