Cutis Laxa, Autosomal Recessive, Type Iib (ARCL2B)

Alias:

Arcl2b

Autosomal Recessive Cutis Laxa Type 2b

Arcl2, Progeroid Type

Autosomal Recessive Cutis Laxa Type 2, Progeroid Type

Autosomal Recessive Cutis Laxa Type Iib

Cutis Laxa with Progeroid Features

Cutis Laxa, Autosomal Recessive, Type 2b

Cutis Laxa Autosomal Recessive Type Iib

Cutis Laxa, Autosomal Recessive, 2b

Cl Type Iib

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cutis Laxa, Autosomal Recessive, Type Iib, also known as arcl2b, is related to cutis laxa, autosomal dominant 3 and wrinkly skin syndrome. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iib is PYCR1 (Pyrroline-5-Carboxylate Reductase 1), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and superpathway of L-citrulline metabolism. Affiliated tissues include skin and bone, and related phenotypes are hypotelorism and failure to thrive

Related ID：

MALACARDS：CTS023

OMIM：612940

MESH：D003483