Details of Disease | DrugMAP

General Information of Disease (ID: DIS1I0AV)

Disease Name	Fanconi renotubular syndrome 2
Synonyms	FRTS2; Fanconi syndrome caused by mutation in SLC34A1; Fanconi renotubular syndrome type 2; Fanconi renotubular syndrome 2; SLC34A1 Fanconi syndrome
Definition	Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.
Disease Hierarchy	DISPC514: Inherited Fanconi renotubular syndrome DISR144Y: Primary Fanconi syndrome DIS1I0AV: Fanconi renotubular syndrome 2
Disease Identifiers	MONDO ID MONDO_0013247 UMLS CUI C3150652 OMIM ID 613388 MedGen ID 462002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC34A1	DT42EWA	Limited	Biomarker	[1]
SLC34A1	DT42EWA	Disputed	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC34A1	OTNOMLU2	Disputed	Autosomal recessive	[2]
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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	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.