Renal Hypodysplasia/aplasia 1 (RHDA1)

Alias:
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
Related ID:
MESH:C563261
ICD11:683319223

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Antenatal
1-5/10000
70
817
32

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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