Details of Disease | DrugMAP

General Information of Disease (ID: DISUQYF3)

Disease Name	De Barsy syndrome
Synonyms	cutis laxa growth deficiency syndrome; corneal clouding, cutis laxa and intellectual disability; autosomal recessive cutis laxa type III; progeroid syndrome, de Barsy type; progeroid syndrome of de Barsy; corneal clouding, cutis laxa and mental retardation; progeroid syndrome, De Barsy type; cutis laxa-corneal clouding-intellectual disability syndrome; De Barsy syndrome
Definition	A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DIS51AGT: Premature aging syndrome DISUQYF3: De Barsy syndrome
Disease Identifiers	MONDO ID MONDO_0017569 MESH ID C535990 UMLS CUI C0268354 MedGen ID 82794 Orphanet ID 2962 SNOMED CT ID 238826008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALDH18A1	OT6W40XU	Limited	Biomarker	[1]
PYCR1	OTQHB52T	Limited	Genetic Variation	[2]
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References

1	Mitochondrial medicine in the omics era.Lancet. 2018 Jun 23;391(10139):2560-2574. doi: 10.1016/S0140-6736(18)30727-X. Epub 2018 Jun 18.
2	Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.Am J Med Genet A. 2011 Dec;155A(12):3095-9. doi: 10.1002/ajmg.a.34326. Epub 2011 Nov 3.