Details of Disease

General Information of Disease (ID: DIS30RYU)

Disease Name Fanconi renotubular syndrome 1
Synonyms
adult Fanconi syndrome; Fanconi syndrome without cystinosis; renal Fanconi syndrome; Fanconi renotubular syndrome; Luder-Sheldon syndrome; Fanconi renotubular syndrome 1; primary Fanconi renal syndrome; primary Fanconi renotubular syndrome; DeToni-Debr-Fanconi syndrome; FRTS1
Disease Hierarchy
DISPC514: Inherited Fanconi renotubular syndrome
DISR144Y: Primary Fanconi syndrome
DIS30RYU: Fanconi renotubular syndrome 1
Disease Identifiers
MONDO ID
MONDO_0024525
UMLS CUI
C4551503
OMIM ID
134600
MedGen ID
1635492

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC34A1 DT42EWA Definitive GermlineCausalMutation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GATM OTIJ4Z11 Moderate Autosomal dominant [2]
EHHADH OTBAAHL5 Strong GermlineCausalMutation [3]
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References

1 A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. N Engl J Med. 2010 Mar 25;362(12):1102-9. doi: 10.1056/NEJMoa0905647.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3 Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. N Engl J Med. 2014 Jan 9;370(2):129-38. doi: 10.1056/NEJMoa1307581.