ORPHA:2157
Histidinemia
Synonyms: HAL deficiency · HIS deficiency · Histidase deficiency · Histidine ammonia-lyase deficiency · Histidinuria · Hyperhistidinemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Histidinemia | HAL deficiency · HIS deficiency · Histidase deficiency · Histidine ammonia-lyase deficiency · Histidinuria · Hyperhistidinemia |
| fr | Histidinémie | Déficit en HAL · Déficit en HIS · Déficit en histidase · Déficit en histidine-ammoniac-lyase · Histidinurie · Hyperhistidinémie |
| de | Histidinämie | HAL-Mangel · HIS-Mangel · Histidase-Mangel · Histidin-Ammoniak-Lyase-Mangel · Histidinurie · Hyperhistidinämie |
| es | Histidinemia | Deficiencia HAL · Deficiencia HIS · Deficiencia de histidasa · Deficiencia de histidina-amoníaco-liasa · Hiperhistidinemia · Histidinuria |
| it | Istidinemia | Deficit di HAL · Deficit di HIS · Deficit di istidasi · Deficit di istidina ammonio-liasi · Iperistidinemia · Istidinuria |
| nl | Histidinemie | Deficiëntie van histidase · Deficiëntie van histidine-ammoniak-lyase · HAL-deficiëntie · HIS-deficiëntie · Histidinurie · Hyperhistidinemie |
| pt | Histidinemia | Deficiência de HAL · Deficiência de HIS · Deficiência de histidase · Deficiência de histidina amonia-liase · Hiperhistidinemia · Histidinúria |
| pl | Histydynemia | Hiperhistydynemia · Histydynuria · Niedobór amoniakoliazy histydyny · Niedobór HAL · Niedobór HIS · Niedobór histydazy |
| cs | Histidinémie | HAL deficit · HIS deficit · Deficit histidázy · Deficit histidin amonium lyázy · Histidinurie · Hyperhistidinemie |
| uk | Гістидинемія | Дефіцит HAL · Дефіцит HIS · Дефіцит гістидази · Дефіцит гістидин-аміакліази · Гістидинурія · Гіпергістидинемія |
| zh | 组氨酸血症 | 组氨酸氨基裂合酶缺乏 |
| tr | Histidinemia | Histidinüri · HAL eksikliği · HIS eksikliği · Hiperhistidinemi · Histidaz eksikliği · Histidin amonyak liyaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 235800 | E | validated | |
| ICD-10 | E70.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.20 | E | specific | validated |
| MONDO | 0009345 | E | validated | |
| MeSH | C538320 | E | validated | |
| UMLS | C0220992 | E | validated | |
| GARD | 6661 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79181Disorder of histidine metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HAL | Disease-causing germline mutation(s) in | Assessed | HGNC:4806 | ENSG00000084110 | 609457 | 12q23.1 | histidine ammonia-lyase | 15806399[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.7 / 100 000 | Sweden | Value and class | Validated | 8463510[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 8.3 / 100 000 | United States | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-5 / 10 000 | 11.9 / 100 000 | Japan | Value and class | Validated | 6468444[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
7 annotations · validated 2019-02-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002927 | Histidinuria | |
| HP:0010906 | Hyperhistidinemia | |
| Very rare (<4-1%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000708 | Atypical behavior | |
| HP:0000752 | Hyperactivity | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0001328 | Specific learning disability | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 28262611[PMID]_8669938[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2157
- This record as JSON: /data/d/2157.json