Nephronophthisis (Q46420): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Doença autossômica recessiva caracterizada por poliúria, polidipsia, enurese e doença renal crônica com insuficiência renal terminal ocorrendo entre o nascimento e o final da adolescência, dependendo do gene NPHP envolvido. As manifestações extra-renais ocorrem com transtornos genéticos multissistêmicos associados (p. ex., Senior-Loken, Cogan, Joubert) | |||
| description / en | description / en | ||
Autosomal recessive disease characterised by polyuria, polydipsia, enuresis and chronic kidney disease with end stage renal failure occurring between birth and late adolescence depending on the NPHP gene involved. Extra-renal manifestations occur with associated multisystem genetic disorders (e.g. Senior-Loken, Cogan, Joubert) | |||
Revision as of 14:59, 13 August 2026
Autosomal recessive disease characterised by polyuria, polydipsia, enuresis and chronic kidney disease with end stage renal failure occurring between birth and late adolescence depending on the NPHP gene involved. Extra-renal manifestations occur with associated multisystem genetic disorders (e.g. Senior-Loken, Cogan, Joubert)
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | GB83 |
||
| English | Nephronophthisis |
Autosomal recessive disease characterised by polyuria, polydipsia, enuresis and chronic kidney disease with end stage renal failure occurring between birth and late adolescence depending on the NPHP gene involved. Extra-renal manifestations occur with associated multisystem genetic disorders (e.g. Senior-Loken, Cogan, Joubert) |
