Cutis Laxa, Autosomal Recessive, Type Iiia (ARCL3A)

Alias:

Aldh18a1-Related De Barsy Syndrome

De Barsy Syndrome a

Arcl3a

Autosomal Recessive Cutis Laxa Type Iiia

Progeroid Syndrome of De Barsy

De Barsy Syndrome

P5cs Deficiency

Developmental Delay-Choreoathetosis-Joint Dislocation-Lax Skin

Delta-1-Pyrroline 5-Carboxylate Synthetase Deficiency

Cutis Laxa, Corneal Clouding, and Mental Retardation

Cutis Laxa Corneal Clouding Mental Retardation

Corneal Clouding Cutis Laxa Mental Retardation

Cutis Laxa Autosomal Recessive Type Iiia

Neurocutaneous Syndrome, Bicknell Type

Neurocutaneous Syndrome Bicknell Type

Cutis Laxa, Autosomal Recessive, 3a

Progeroid Syndrome De Barsy Type

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Gene & Mutation

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Cutis Laxa, Autosomal Recessive, Type Iiia, also known as aldh18a1-related de barsy syndrome, is related to cutis laxa, autosomal recessive, type iiib and cutis laxa, autosomal dominant 3, and has symptoms including athetosis, seizures and grimacing. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iiia is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1), 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 intellectual disability and cataract

Related ID：

MALACARDS：CTS029

OMIM：219150

MESH：D003318