Retinitis pigmentosa and erythrocytic microcytosis

Preferred Label : Retinitis pigmentosa and erythrocytic microcytosis;

Symbol : RPEM;

CISMeF acronym : RPEM;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CCA-adding tRNA nucleotidyltransferase-1 gene (TRNT1, 612907.0007);

Prefixed ID : #616959;

Details

Origin ID

616959;

UMLS CUI

C4310776;

Genes related to phenotype
- Trna nucleotidyltransferase, cca-adding, 1 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Anisocytosis [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Childhood onset [HPO term]
- Decreased circulating iron concentration [HPO term]
- Decreased mean corpuscular volume [HPO term]
- Decreased total leukocyte count [HPO term]
- Early young adult onset [HPO term]
- Elliptocytosis [HPO term]
- Epiretinal membrane [HPO term]
- Hypochromia [HPO term]
- Intermediate young adult onset [HPO term]
- Juvenile onset [HPO term]
- Macular edema [HPO term]
- Myopia [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Pallor [HPO term]
- Peripheral retinal atrophy [HPO term]
- Photoreceptor layer loss on macular OCT [HPO term]
- Poikilocytosis [HPO term]
- Retinal atrophy [HPO term]
- Retinal pigment epithelial atrophy [HPO term]
- Ring scotoma [HPO term]
- Thrombocytopenia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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