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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620669
http://purl.bioontology.org/ontology/OMIM/620669
|
|---|---|
| Preferred Name | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 |
| Synonyms |
NBIA9
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NBIA9
|
|---|---|
| prefLabel | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9
|
| Gene Symbol |
FTH1
HFE5
FTHL6
NBIA9
|
| Scope Statement | Caused by mutation in the ferritin heavy chain 1 gene (FTH1, 134770.0002) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Six unrelated patients have been reported (last curated March 2025) [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
One patient was asymptomatic at 78 years of age despite iron accumulation in brain [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11q12-q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620669
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5882740
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |