Ichthyosis, Congenital, Autosomal Recessive 11 (ARCI11)

Ichthyosis, Congenital, Autosomal Recessive 11(来自ICD-11)
别称:
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
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基础信息

遗传方式
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参考文献
MALACARDS
AR
Newborn
<1/1000000
19
98
12

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靶点药物

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MGI
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