Ichthyosis, Congenital, Autosomal Recessive 11 (ARCI11)

Alias:

Autosomal Recessive Congenital Ichthyosis 11

Ichthyosis and Follicular Atrophoderma with Hypotrichosis and Hypohidrosis

Ichthyosis-Follicular Atrophoderma-Hypotrichosis-Hypohidrosis Syndrome

Ichthyosis-Follicular Atrophoderma-Hypotrichosis Syndrome

Hypotrichosis-Congenital Ichthyosis Syndrome

Ichthyosis-Hypotrichosis Syndrome

Ifah Syndrome

Ihs

Ichthyosis with Hypotrichosis, Autosomal Recessive

Autosomal Recessive Ichthyosis with Hypotrichosis

Arci11

Arih

Ifah

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ichthyosis, Congenital, Autosomal Recessive 11, also known as autosomal recessive congenital ichthyosis 11, is related to persistent idiopathic facial pain and ichthyosis, congenital, autosomal recessive 1, and has symptoms including photophobia An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 11 is ST14 (ST14 Transmembrane Serine Protease Matriptase), and among its related pathways/superpathways are Infectious disease and Innate Immune System. Affiliated tissues include skin, and related phenotypes are ichthyosis and sparse hair

Related ID：

MALACARDS：ICH051

OMIM：602400

MESH：D017490