Details of Disease | DrugMAP

General Information of Disease (ID: DISZ3LPE)

Disease Name	Renal tubulopathy-encephalopathy-liver failure syndrome
Definition	Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders.
Disease Hierarchy	DISTXS4G: Mitochondrial complex III deficiency nuclear type 1 DISZ3LPE: Renal tubulopathy-encephalopathy-liver failure syndrome
Disease Identifiers	MONDO ID MONDO_0016811 UMLS CUI C4274075 MedGen ID 900319 Orphanet ID 254902 SNOMED CT ID 717053007

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
BCS1L	OT5PY5CY	Supportive	Autosomal recessive	[1]
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References

1	A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet. 2001 Sep;29(1):57-60. doi: 10.1038/ng706.