Renal Hypodysplasia/aplasia 1 (RHDA1)

Renal Hypodysplasia/aplasia 1(来自ICD-11)
别称:
Renal Agenesis
Renal Adysplasia
Renal Aplasia
Hereditary Renal Aplasia
Rhda1
Congenital Absence of Kidneys Syndrome
Hypodysplasia/aplasia, Renal, Type 1
Hereditary Urogenital Adysplasia
Congenital Absence of Kidney
Aplastic Kidney
Hra
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Renal Hypodysplasia/aplasia 1, also known as renal agenesis, is related to fraser syndrome 1 and potter's syndrome. An important gene associated with Renal Hypodysplasia/aplasia 1 is ITGA8 (Integrin Subunit Alpha 8), and among its related pathways/superpathways are GDNF-Family Ligands and Receptor Interactions and RET signaling. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include kidney and uterus, and related phenotypes are renal agenesis and unilateral renal agenesis
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相关ID:
MESH:C563261
ICD11:683319223

基础信息

遗传方式
发病时间
患病率/发病率
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参考文献
MALACARDS
AR
AD
Antenatal
1-5/10000
70
810
32

疾病表征

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基因 & 突变

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靶点药物

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疾病模型

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MGI
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