renal hypodysplasia/aplasia 1
MONDO:0024519Mondo
Findings
No curated finding names renal hypodysplasia/aplasia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnhydramniosHPOHP:0025700
- 4 of 4 reported patients
- Bilateral renal agenesisHPOHP:0010958
- 4 of 4 reported patients
- Potter faciesHPOHP:0002009
- 3 of 3 reported patients
- Talipes equinovarusHPOHP:0001762
- 3 of 3 reported patients
- Pulmonary hypoplasiaHPOHP:0002089
- 2 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ITGA8HGNC:6144
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
1 name
Resolves to: renal hypodysplasia/aplasia 1
- Also called
- RHDA1