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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613280
http://purl.bioontology.org/ontology/OMIM/613280
|
|---|---|
| Preferred Name | HYPERMANGANESEMIA WITH DYSTONIA 1 |
| Synonyms |
HMDPC
HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS
HMNDYT1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HMDPC
HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS
HMNDYT1
|
|---|---|
| prefLabel | HYPERMANGANESEMIA WITH DYSTONIA 1
|
| Gene Symbol |
ZNT10
SLC30A10
HMNDYT1
|
| Scope Statement | Chelation therapy can result in clinical improvement [MISCELLANEOUS]
Caused by mutation in the solute carrier family 30 (zinc transporter), member 10 gene (SLC30A10, 611146.0001) [MOLECULAR BASIS]
Onset usually in first decade [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Adult onset of neurologic symptoms has been reported in 1 family [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 1q41
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 613280
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2750442
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |