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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Histidinemia | |
| Synonyms |
Hyperhistidinemia Histidase deficiency HAL deficiency HIS deficiency Histidine ammonia-lyase deficiency Histidinuria |
|
| Definitions |
Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2157 |
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| alternative_term |
Hyperhistidinemia Histidase deficiency HAL deficiency HIS deficiency Histidine ammonia-lyase deficiency Histidinuria
|
|
| definition |
Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
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|
| definition_citation |
Orphanet
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|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2157 |
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| has_age_of_onset |
Infancy Neonatal
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|
| has_inheritance |
Autosomal recessive
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| hasDbXref |
OMIM:235800 ICD-11:5C50.20 MeSH:C538320 UMLS:C0220992 ICD-10:E70.8
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|
| label |
Histidinemia
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|
| notation |
ORPHA:2157
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_2157
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|
| prefLabel |
Histidinemia
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|
| present_in |
Europe AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 2.7 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 11.9 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 8.3 AND has_birth_prevalence_range : 1-9 / 100 000
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| treeView | ||
| subClassOf |
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