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PYCR1-related de Barsy syndrome | RareConnect | RareConnect.io

/de Barsy syndrome

/inherited cutis laxa

/PYCR1-related de Barsy syndrome

PYCR1-related de Barsy syndrome

Rare Disease

MONDO:0013755

Also Known As

ARCL3BDe Barsy syndrome BPYCR1 de Barsy syndromePYCR1 deficiencyde Barsy syndrome caused by mutation in PYCR1pyrroline-5-carboxylate reductase 1 deficiencyautosomal recessive cutis laxa type IIIBcutis laxa, autosomal recessive, type 3Bcutis laxa, autosomal recessive, type IIIB

Definition

Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:614438 ↗

Orphanet

Orphanet:293633 ↗

GARD

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