Details of Disease

General Information of Disease (ID: DIS9EFII)

Disease Name PYCR1-related de Barsy syndrome
Synonyms
cutis laxa, autosomal recessive, type 3B; cutis laxa, autosomal recessive, type IIIB; autosomal recessive cutis laxa type IIIB; PYCR1 de Barsy syndrome; pyrroline-5-carboxylate reductase 1 deficiency; de Barsy syndrome caused by mutation in PYCR1; PYCR1 deficiency; De Barsy syndrome B; ARCL3B
Definition Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.
Disease Hierarchy
DISUQYF3: De Barsy syndrome
DIS0OJ0Q: Inherited cutis laxa
DIS9EFII: PYCR1-related de Barsy syndrome
Disease Identifiers
MONDO ID
MONDO_0013755
UMLS CUI
C3280799
OMIM ID
614438
MedGen ID
482429
Orphanet ID
293633

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
PYCR1 OTQHB52T Definitive Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.