Details of Disease | DrugMAP

General Information of Disease (ID: DIS4NNOZ)

Disease Name	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Synonyms	FRTS4 with MODY; FRTS4; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young; HNF4A Fanconi syndrome; Fanconi syndrome caused by mutation in HNF4A; fanconi renotubular syndrome 4, with maturity-onset diabetes of the young
Definition	Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.
Disease Hierarchy	DISPC514: Inherited Fanconi renotubular syndrome DISG75M5: Maturity-onset diabetes of the young DIS4NNOZ: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Disease Identifiers	MONDO ID MONDO_0014458 UMLS CUI C4014962 OMIM ID 616026 MedGen ID 863399

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HNF4A	TT2F3CD	Limited	Biomarker	[1]
HNF4A	TT2F3CD	Definitive	Autosomal dominant	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HNF4A	OTY1TOAB	Definitive	Autosomal dominant	[2]
------------------------------------------------------------------------------------

References

1	Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A.Cell Rep. 2019 Dec 24;29(13):4407-4421.e5. doi: 10.1016/j.celrep.2019.11.066.
2	The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a cell phenotype. J Med Genet. 2014 Mar;51(3):165-9. doi: 10.1136/jmedgenet-2013-102066. Epub 2013 Nov 27.