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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617384
http://purl.bioontology.org/ontology/OMIM/617384
|
|---|---|
| Preferred Name | HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT |
| Synonyms |
HPANBH4
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | HPANBH4
|
|---|---|
| prefLabel | HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT
|
| Gene Symbol |
JDP1
HPANBH4
DNAJC12
|
| Scope Statement | Caused by mutation in the DNAJ/HSP40 homolog, subfamily C, member 12 gene (DNAJC12, 606060.0001) [MOLECULAR BASIS]
Favorable response to treatment with neurotransmitter precursors and BH4 supplementation [MISCELLANEOUS]
Favorable response to L-dopa treatment in those with parkinsonism [MISCELLANEOUS]
No defect in BH4 metabolism [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Variable neurologic features [MISCELLANEOUS]
Variable age at onset [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 10q21.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617384
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4479270
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |