Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive (KIDAR)

Alias:
Ichthyosiform Erythroderma, Corneal Involvement, and Deafness
Kid Syndrome, Autosomal Recessive
Desmons Syndrome
Autosomal Recessive Keratitis-Ichthyosis-Deafness Syndrome
Kidar
Ichthyosiform Erythroderma, Corneal Involvement, Deafness
Ichthyosiform Erythroderma Corneal Involvement Deafness
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
先天性角膜-鱼鳞病-耳聋综合征,又名鱼鳞病样红皮病、角膜病变和耳聋,与KID综合征和遗传性角膜炎有关,症状包括畏光。与先天性角膜-鱼鳞病-耳聋综合征,又名鱼鳞病样红皮病、角膜病变和耳聋有关的重要基因是AP1B1(Adaptor Related Protein Complex 1 Subunit Beta 1)。相关组织包括皮肤和骨髓,相关表型包括智力障碍和全球发育延迟。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
4
10

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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