Details of Disease

General Information of Disease (ID: DIS0RYCY)

Disease Name Retinitis pigmentosa and erythrocytic microcytosis
Synonyms RPEM; retinitis pigmentosa and erythrocytic microcytosis; RPEM; retinitis pigmentosa and erythrocytic microcytosis
Disease Hierarchy
DISYKSRF: Genetic disease
DIS0RYCY: Retinitis pigmentosa and erythrocytic microcytosis
Disease Identifiers
MONDO ID
MONDO_0014850
UMLS CUI
C4310776
OMIM ID
616959
MedGen ID
934743

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TRNT1 OTD57ILL Definitive Autosomal recessive [1]
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References

1 Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant). Immunol Lett. 2020 Sep;225:64-65. doi: 10.1016/j.imlet.2020.06.012. Epub 2020 Jun 24.