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renal hypodysplasia/aplasia 4 (RHDA4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

renal hypodysplasia/aplasia 4

MONDO:0030822

Also known as:RHDA4

Overview

GeneticsAutosomal recessive · GFRA1 (chr 10)

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 always present findings: Bilateral renal agenesis, Pulmonary hypoplasia, Anhydramnios, and Potter facies and others.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	Pulmonary hypoplasia, Respiratory failure

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.

GFRA1 encodes GDNF family receptor alpha 1 (465 aa). Coreceptor for GDNF, a neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake. Highest expression in Fallopian Tube (45.4 TPM) and Nerve Tibial (41.0 TPM).

Renal hypodysplasia/aplasia 4 is associated with mutations in the GFRA1 gene on chromosome 10.

GFRA1 is classified as a druggable target (External Side Of Plasma Membrane and Kinase categories) with score 13.1.

Diagnosis

Genetic testing for GFRA1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features.

Data assembled from 4 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:619887

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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