Carnosinase deficiency
- Type
- Biological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carnosinase deficiency | |
| fr | Déficit en carnosinase | |
| de | Carnosinase-Mangel | |
| es | Deficiencia de carnosinasa | |
| it | Deficit di carnosinasi | Deficit di carnosinasi |
| nl | Carnosinasedeficiëntie | |
| pt | Deficiência de carnosinase | Carnosinemia |
| pl | Niedobór karnozydazy | Deficyt karnozydazy |
| cs | Karnosinémie | Deficit karnosinázy |
| uk | Дефіцит карнозинази | |
| zh | 肌肽酶缺乏 | |
| tr | Karnosinaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212200 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.F1 | NTBT | index | validated |
| MONDO | 8921 | E | validated | |
| UMLS | C5700357 | E | validated | |
| GARD | 6001 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:447874Biological anomaly without phenotypic characterization
rare genetic diseases - ORPHA:79187Disorder of peptide metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | ISBN:0-7817-3063-5[OTHER] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Worldwide | Value and class | Validated | 16722645[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.
HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003167 | Carnosinuria | |
| HP:0002376 | Developmental regression | |
| HP:0002353 | EEG abnormality | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001249 | Intellectual disability | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1361
- This record as JSON: /data/d/1361.json