Autosomal Recessive Cutis Laxa Type I (ARCL1)

Autosomal Recessive Cutis Laxa Type I(来自ICD-11)

别称:

Autosomal Recessive Cutis Laxa Type 1

Autosomal Recessive Cutis Laxa with Severe Systemic Involvement

Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type

Cutis Laxa, Autosomal Recessive, Type I

Arcl1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Autosomal Recessive Cutis Laxa Type I, also known as autosomal recessive cutis laxa type 1, is related to cutis laxa, autosomal dominant 3 and cutis laxa, autosomal recessive, type ia. An important gene associated with Autosomal Recessive Cutis Laxa Type I is EFEMP2 (EGF Containing Fibulin Extracellular Matrix Protein 2), and among its related pathways/superpathways are Phospholipase-C Pathway and NF-KappaB Family Pathway. Affiliated tissues include skin and lung, and related phenotypes are cutis laxa and emphysema

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