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renal hypodysplasia/aplasia 3 (RHDA3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

renal hypodysplasia/aplasia 3

MONDO:0024520

Also known as:RHDA3

Overview

GeneticsAutosomal dominant · GREB1L (chr 18)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Renal agenesis; and rarely findings: Vesicoureteral reflux and Hydronephrosis. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	4	Renal dysplasia, Horseshoe kidney, Multicystic kidney dysplasia

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GREB1L encodes GREB1 like retinoic acid receptor coactivator (1,923 aa). Plays a major role in early metanephros and genital development Highest expression in Fallopian Tube (8.7 TPM) and Thyroid (7.4 TPM).

Renal hypodysplasia/aplasia 3 is associated with mutations in the GREB1L gene on chromosome 18.

GREB1L is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for GREB1L is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for renal hypodysplasia/aplasia 3.

2 publications have been identified in PubMed for renal hypodysplasia/aplasia 3. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Herlin MK (2024). [PMID: 38699388](https://pubmed.ncbi.nlm.nih.gov/38699388/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]
Wang Y (2024). [PMID: 39091162](https://pubmed.ncbi.nlm.nih.gov/39091162/). *Am J Med Genet A*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617805

Questions for Your Care Team

→Should I pursue genetic testing for GREB1L, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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renal hypodysplasia/aplasia 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team