ORPHA:199337
Pancreatic insufficiency-anemia-hyperostosis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pancreatic insufficiency-anemia-hyperostosis syndrome | |
| fr | Syndrome d'insuffisance pancréatique-anémie-hyperostose | Syndrome de Shteyer |
| de | Pankreasinsuffizienz-Anämie-Hyperostose-Syndrom | |
| es | Síndrome de insuficiencia pancreática-anemia-hiperostosis | |
| it | Insufficienza pancreatica - anemia - iperostosi | |
| nl | Pancreasinsufficiëntie - anemie - hyperostose-syndroom | |
| pt | Insuficiência pancreática - anemia - hiperostose | |
| pl | Niewydolność trzustki - niedokrwistość - hiperostoza | |
| cs | Syndrom zahrnující pankreatickou insuficienci, anémii a hyperostózu | |
| uk | Синдром панкреатичної недостатності-анемії-гіперостозу | |
| zh | 胰脏外分泌功能不足-贫血-骨肥大综合症 | |
| tr | Pankreas yetmezliği-anemi-hiperostoz sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612714 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | index | validated |
| MONDO | 0012992 | E | validated | |
| UMLS | C2675184 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:293830Constitutional dyserythropoietic anemia
rare genetic diseases; rare hematological diseases - ORPHA:165661Genetic pancreatic disease
rare genetic diseases - ORPHA:2443Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
rare inborn errors of metabolism; rare genetic diseases - ORPHA:101937Rare pancreatic disease
rare gastroenterological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COX4I2 | Disease-causing germline mutation(s) in | Assessed | HGNC:16232 | ENSG00000131055 | 607976 | 20q11.21 | cytochrome c oxidase subunit 4I2 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 19268275[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19268275[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199337
- This record as JSON: /data/d/199337.json