Cutis Laxa, Autosomal Recessive, Type Iia (ARCL2A)

Alias:

Cutis Laxa with Joint Laxity and Retarded Development

Arcl2a

Cutis Laxa with Congenital Disorder of Glycosylation

Cutis Laxa with Growth and Developmental Delay

Autosomal Recessive Cutis Laxa Type Iia

Cutis Laxa with Bone Dystrophy

Cutis Laxa, Debre Type

Arcl2

Cutis Laxa Autosomal Recessive Type Iia

Cutis Laxa, Autosomal Recessive, 2a

Cutis Laxa with Osteodystrophy

Cl Type Iia

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cutis Laxa, Autosomal Recessive, Type Iia, also known as cutis laxa with joint laxity and retarded development, is related to atp6v0a2-related cutis laxa and cutis laxa, autosomal recessive, type ia, and has symptoms including seizures An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iia is ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2), and among its related pathways/superpathways are Ion channel transport and Insulin receptor recycling. Affiliated tissues include skin and bone, and related phenotypes are wide anterior fontanel and excessive wrinkled skin

Related ID：

MALACARDS：CTS038

OMIM：219200

MESH：D003483