Renal hypoplasia, bilateral

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Renal hypoplasia, bilateral

ORPHA:97362Clinical subtype

What it is

A form of renal hypoplasia characterized by bilateral abnormally small kidneys with reduced number of nephrons. Patients are usually asymptomatic but may have hypertension, some excretory functional limitations, as well as eventual chronic renal failure.

Key facts

Age of onset
All ages
Inheritance
Autosomal dominant, Not applicable
Classified as
Clinical subtype

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

PAX2Major susceptibility factor
PBX1Role in the phenotype of

ICD-10 codes

Q60.4ICD-10 names this disease exactly — shared with 3 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

MONDO 0019980UMLS C0431692

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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