Hyperzincemia and hypercalprotectinemia
Synonyms: Hz/Hc · PAMI syndrome · PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- active
A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperzincemia and hypercalprotectinemia | Hz/Hc · PAMI syndrome · PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome |
| fr | Hyperzincémie et hypercalprotectinémie | Hz/Hc · Syndrome PAMI |
| de | Hyperzinkämie und Hypercalprotectinämie | Hz/Hc · PAMI-Syndrom · PSTPIP1-assoziiertes Entzündungssyndrom mit MRP8/14-Proteinämie · PSTPIP1-assoziiertes inflammatorisches Syndrom mit MRP8/14-Proteinämie |
| es | Hiperzincemia e hipercalprotectinemia | Hz/Hc · Síndrome PAMI · Síndrome inflamatorio asociado a PSTPIP1 con proteinemia mieloide |
| it | Iperzinchemia e ipercalprotectinemia | Iperzinchemia e ipercalprotectinemia |
| nl | Hyperzinkemie en hypercalprotectinemie | Hz/Hc · PAMI-syndroom · PSTPIP1-geassocieerd inflammatoir syndroom met myeloïd-gerelateerd proteïnemie |
| pt | Infecções recorrentes - síndrome inflamatório por deficiência no metabolismo do zinco | Hiperzincemia e hipercalprotectinemia |
| pl | Nadmierne stężenie cynku i kalprotektyny we krwi | = en |
| cs | Syndrom zahrnující rekurentní infekce a zánět, způsobené poruchou metabolismu zinku | Hyperzinkémie a hyperkalprotektinémie |
| uk | Гіперцинкемія та гіперкальпротектинемія | Hz/Hc · Синдром PAMI · PSTPIP1-асоційований запальний синдром мієлоїдної протеїнемії |
| zh | 高锌血症和高钙蛋白血症 | PSTPIP1基因相关髓样相关蛋白血症炎症综合征 |
| tr | Hiperzinkemi ve hiperkalprotektinemi | Hz/Hc · PAMI sendromu · PSTPIP1-ilişkili miyeloid ilişkili proteinemi inflamatuar sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601979 | E | validated | |
| ICD-10 | E83.2 | NTBT | attributed | validated |
| ICD-11 | 5C64.2Y | NTBT | index | validated |
| MONDO | 11174 | E | validated | |
| MeSH | C565988 | E | validated | |
| UMLS | C4760957 | E | validated | |
| MedDRA | 10081947 | 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 (7):
- ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:309845Disorder of zinc metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:622720Genetic autoinflammatory syndrome with skin involvement
rare genetic diseases - ORPHA:79387Metabolic disease with skin involvement
rare genetic diseases; rare skin diseases - ORPHA:324927Pyogenic autoinflammatory syndrome
rare systemic and rheumatological diseases - ORPHA:324942Pyogenic autoinflammatory syndrome of childhood
rare systemic or rheumatologic diseases of childhood - ORPHA:619238Rare hereditary autoinflammatory disease
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PSTPIP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9580 | ENSG00000140368 | 606347 | 15q24.3 | proline-serine-threonine phosphatase interacting protein 1 | 26025129[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 12480428[PMID]_10.1007/978-3-319-96929-9_4[DOI] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10.1007/978-3-319-96929-9_4[DOI] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251523
- This record as JSON: /data/d/251523.json