Fanconi renotubular syndrome 5

Term ID

DOID:0080761

Synonyms

• Acadian-variant Fanconi syndrome

Definition

A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. https://pubmed.ncbi.nlm.nih.gov/27466185/

References

• MIM:618913

Ontology

Human Disease   ( DOID:0080761 )