Details of Disease | DrugMAP

General Information of Disease (ID: DISD0LGA)

Disease Name	Fanconi renotubular syndrome 3
Synonyms	FRTS3; EHHADH Fanconi syndrome; Fanconi renotubular syndrome 3; Fanconi syndrome caused by mutation in EHHADH; Fanconi renotubular syndrome type 3
Definition	Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.
Disease Hierarchy	DISPC514: Inherited Fanconi renotubular syndrome DISR144Y: Primary Fanconi syndrome DISD0LGA: Fanconi renotubular syndrome 3
Disease Identifiers	MONDO ID MONDO_0014275 UMLS CUI C3810100 OMIM ID 615605 MedGen ID 816430

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
EHHADH	OTBAAHL5	Limited	Autosomal dominant	[1]
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References

1	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.