Details of Disease | DrugMAP

General Information of Disease (ID: DISUQ5CQ)

Disease Name	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Synonyms	BILAPES; Birk-Landau-Perez syndrome; Cerebrorenal syndrome, Perez type
Disease Hierarchy	DISZ75RJ: Inherited renal tubular disease DISPN7D2: Inherited neurodegenerative disorder DIS496E5: Disorder of zinc metabolism DISUQ5CQ: Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Disease Identifiers	MONDO ID MONDO_0044726 UMLS CUI C4539828 OMIM ID 617595 MedGen ID 1621949 Orphanet ID 505242

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
SLC30A9	DT2I79L	Limited	GermlineCausalMutation	[1]
SLC30A9	DT2I79L	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC30A9	OT2AN3VH	Strong	Autosomal recessive	[1]
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References

1	SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome. Brain. 2017 Apr 1;140(4):928-939.