ORPHA:90
Argininemia
Synonyms: Arginase 1 deficiency · Arginase deficiency · Hyperargininemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare autosomal recessive amino acid metabolism disorder characterized by variable degrees of hyperammonemia leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Argininemia | Arginase 1 deficiency · Arginase deficiency · Hyperargininemia |
| fr | Argininémie | Hyperargininémie · Déficit en arginase · Déficit en arginase 1 |
| de | Argininämie | ArgD · Argininase-1-Mangel · Hyperargininämie |
| es | Argininemia | Deficiencia de arginasa · Deficiencia de arginasa 1 · Hiperargininemia |
| it | Argininemia | Deficit di arginasi · Iperargininemia |
| nl | Argininemie | Arginase 1-deficiëntie · Arginasedeficiëntie · Hyperargininemie |
| pt | Argininemia | Deficiência de Arginase · Deficiência de Arginase 1 · Hiperargininemia |
| pl | Argininemia | Hyperargininemia · Niedobór arginazy |
| cs | Argininémie | Deficit arginázy · Hyperargininemie |
| uk | Аргінінемія | Дефіцит аргінази · Гіпераргінінемія |
| zh | 精氨酸血症 | 精氨酸酶缺乏症 |
| tr | Arjininemi | Hiperarjininemi · Arjinaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 207800 | E | validated | |
| ICD-10 | E72.2 | NTBT | attributed | validated |
| ICD-11 | 5C50.A2 | E | specific | validated |
| MONDO | 0008814 | E | validated | |
| MeSH | D020162 | E | validated | |
| UMLS | C0268548 | E | validated | |
| GARD | 5840 | E | validated | |
| MedDRA | 10062695 | 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 (2):
- ORPHA:79167Disorder of urea cycle metabolism and ammonia detoxification
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:663 | ENSG00000118520 | 608313 | 6q23.2 | arginase 1 | 20301338[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | <1 / 1 000 000 | 0.04 / 100 000 | Finland | Value and class | Validated | 18616627[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.27 / 100 000 | United States | Value and class | Validated | 8794176[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Validated | European Medicines Agency 2016[OTHER] |
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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000708 | Atypical behavior | |
| HP:0008339 | Diaminoaciduria | |
| HP:0001263 | Global developmental delay | |
| HP:0010864 | Intellectual disability, severe | |
| Frequent (79-30%) | ||
| HP:0002353 | EEG abnormality | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001987 | Hyperammonemia | |
| HP:0002478 | Progressive spastic quadriplegia | |
| HP:0001250 | Seizure | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90
- This record as JSON: /data/d/90.json