Cutis Laxa, Autosomal Recessive, Type Ic (ARCL1C)

Alias:

Cutis Laxa with Severe Pulmonary, Gastrointestinal, and Urinary Abnormalities

Cutis Laxa with Severe Pulmonary, Gastrointestinal and Urinary Anomalies

Urban-Rifkin-Davis Syndrome

Arcl1c

Autosomal Recessive Cutis Laxa Type Ic

Autosomal Recessive Cutis Laxa Type 1c

Urds

Cutis Laxa with Severe Pulmonary Gastrointestinal and Urinary Abnormalities

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cutis Laxa, Autosomal Recessive, Type Ic, also known as cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities, is related to pneumothorax and cutis laxa, autosomal recessive, type ia, and has symptoms including periorbital swelling An important gene associated with Cutis Laxa, Autosomal Recessive, Type Ic is LTBP4 (Latent Transforming Growth Factor Beta Binding Protein 4), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. Affiliated tissues include skin and lung, and related phenotypes are hypertelorism and wide nasal bridge

Related ID：

MALACARDS：CTS033

OMIM：613177

MESH：C567716