retinitis pigmentosa and erythrocytic microcytosis
MONDO:0014850Mondo
Findings
No curated finding names retinitis pigmentosa and erythrocytic microcytosis 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
- Juvenile onset · Childhood onset · Early young adult onset · Intermediate young adult onset
HPO, annotations 2026-09-02
Features
21 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.
- Decreased mean corpuscular volumeHPOHP:0025066
- 3 of 3 reported patients
- NyctalopiaHPOHP:0000662
- 3 of 3 reported patients
- Photoreceptor layer loss on macular OCTHPOHP:0030609
- 3 of 3 reported patients
- Retinal atrophyHPOHP:0001105
- 3 of 3 reported patients
- AnisocytosisHPOHP:0011273
- 2 of 3 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
- 2 of 3 reported patients
- Macular edemaHPOHP:0040049
- 2 of 3 reported patients
- Optic disc pallorHPOHP:0000543
- 2 of 3 reported patients
- Peripheral retinal atrophyHPOHP:0200070
- 2 of 3 reported patients
- ElliptocytosisHPOHP:0004445
- 1 of 3 reported patients
- HypochromiaHPOHP:0032231
- 1 of 3 reported patients
- PoikilocytosisHPOHP:0004447
- 1 of 3 reported patients
Show the remaining 9
- Spicular pigmentation of the retinaHPOHP:0007737
- 1 of 3 reported patients
- Decreased total leukocyte countHPOHP:0001882
- 0 of 3 reported patients
- ThrombocytopeniaHPOHP:0001873
- 0 of 3 reported patients
- AnemiaHPOHP:0001903
- Decreased circulating iron concentrationHPOHP:0040303
- Epiretinal membraneHPOHP:0100014
- MyopiaHPOHP:0000545
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.
- TRNT1HGNC:17341
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: retinitis pigmentosa and erythrocytic microcytosis
- Also called
- retinitis pigmentosa and erythrocytic microcytosis; RPEMRPEM