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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | HISTIDINEMIA | |
| Synonyms |
HISTIDINE AMMONIA-LYASE DEFICIENCY HIS DEFICIENCY HISTIDASE DEFICIENCY HAL DEFICIENCY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/235800 |
|
| altLabel |
HISTIDINE AMMONIA-LYASE DEFICIENCY HIS DEFICIENCY HISTIDASE DEFICIENCY HAL DEFICIENCY
|
|
| cui |
C0220992
|
|
| Gene Locus |
12q22-q23
|
|
| Gene Symbol |
HAL HSTD
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU012442 http://purl.bioontology.org/ontology/OMIM/MTHU012439 http://purl.bioontology.org/ontology/OMIM/MTHU012441 http://purl.bioontology.org/ontology/OMIM/MTHU025298 http://purl.bioontology.org/ontology/OMIM/MTHU067619 http://purl.bioontology.org/ontology/OMIM/MTHU012443 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
235800
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
HISTIDINEMIA
|
|
| Scope Statement |
One compound heterozygous patient reported (last curated February 2015) [MISCELLANEOUS] High prevalence in Japan [MISCELLANEOUS] Caused by mutation in the histidine ammonia lyase gene (HAL, 609457.0001) [MOLECULAR BASIS] Generally considered to be a benign disorder [MISCELLANEOUS] Relationship of rare neuropsychiatric signs to histidinemia is unclear [MISCELLANEOUS]
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|
| tui |
T047
|
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