Details of Disease | DrugMAP

General Information of Disease (ID: DIS2GA85)

Disease Name	Cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
Synonyms	HMDPC; hypermanganesemia with dystonia, polycythemia, and cirrhosis; hypermanganesemia with dystonia 1; HMNDYT1; hypermanganesemia with dystonia polycythemia and cirrhosis; cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
Disease Hierarchy	DISHGY45: Parkinsonian disorder DIST2IF5: Hypermanganesemia with dystonia DISI0BQR: Disorder of manganese transport DISD715V: Hereditary neurological disease DIS2GA85: Cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
Disease Identifiers	MONDO ID MONDO_0013208 MESH ID C548016 UMLS CUI C2750442 OMIM ID 613280 MedGen ID 412958 Orphanet ID 309854 SNOMED CT ID 702377007

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
SLC30A10	DTYBI73	Limited	Biomarker	[1]
SLC30A10	DTYBI73	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP2C1	OTQN51T3	moderate	Biomarker	[3]
SLC30A10	OTXM5JW4	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Atypical Neurologic Phenotype and Novel SLC30A10 Mutation in Two Brothers with Hereditary Hypermanganesemia.Neuropediatrics. 2018 Feb;49(1):72-75. doi: 10.1055/s-0037-1608778. Epub 2017 Nov 27.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
3	Zebrafish slc30a10 deficiency revealed a novel compensatory mechanism of Atp2c1 in maintaining manganese homeostasis.PLoS Genet. 2017 Jul 10;13(7):e1006892. doi: 10.1371/journal.pgen.1006892. eCollection 2017 Jul.