Cutis Laxa, Autosomal Recessive, Type Iiib (ARCL3B)

Cutis Laxa, Autosomal Recessive, Type Iiib(来自ICD-11)

别称:

Pycr1-Related De Barsy Syndrome

De Barsy Syndrome B

Arcl3b

Autosomal Recessive Cutis Laxa Type Iiib

Pyrroline-5-Carboxylate Reductase 1 Deficiency

Cutis Laxa Autosomal Recessive Type Iiib

Cutis Laxa, Autosomal Recessive, Type 3b

Cutis Laxa, Autosomal Recessive, 3b

Pycr1 Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cutis Laxa, Autosomal Recessive, Type Iiib, also known as pycr1-related de barsy syndrome, is related to cutis laxa and amed syndrome, digenic. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iiib is PYCR1 (Pyrroline-5-Carboxylate Reductase 1), and among its related pathways/superpathways are superpathway of L-citrulline metabolism and Amino acid metabolism. Affiliated tissues include skin and eye, and related phenotypes are inguinal hernia and hypertelorism

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