Congenital Anomalies of Kidney and Urinary Tract 1 (CAKUT1)

Alias:
Renal Hypodysplasia, Nonsyndromic, 1
Cakut1
Congenital Anomalies of the Kidney and Urinary Tract 1
Rhdns1
Kidney and Urinary Tract, Anomalies, Congenital, Susceptibility to, Type 1
Non-Syndromic Renal Hypodysplasia 1
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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
先天性肾和尿路异常1,也称为肾发育不良,非综合征性,1,与CAKUT和VACTERL协会,X连锁,伴有或不伴有脑积水有关。与先天性肾和尿路异常1有关的重要基因是DSTYK(双丝氨酸/苏氨酸和酪氨酸蛋白激酶),其相关通路/超级通路包括蛋白质N-糖基化处理阶段(哺乳动物)。在该疾病的背景下提到了磺胺甲恶唑和头孢克肟。附属组织包括肾脏。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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11
74
16

Medical Symptom

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Categorization
Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Gene
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No data available

Related Drugs

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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
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No Data Found!
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