ORPHA:535458
Familial GPIHBP1 deficiency
Synonyms: Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
This disease is described under Familial chylomicronemia syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial GPIHBP1 deficiency | Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency |
| fr | Déficit familial en GPIHBP1 | Déficit familial en protéine de liaison glycosylphosphatidylinositol HDL 1 |
| de | GPIHBP1-Mangel, familiärer | Familiäre Glycosylphosphatidylinositol-verankertes High Density-Lipoprotein-Bindungsprotein-1-Defizienz · Familiärer GPI-verankertes HDL-Bindungsprotein 1-Mangel |
| es | Deficiencia familiar de GPIHBP1 | Deficiencia familiar de la proteína 1 de unión a lipoproteinas de alta densidad anclada a glucosilfosfatidilinosito |
| it | Deficit familiare di GPIHBP1 | |
| nl | Familiale GPIHBP1-deficiëntie | Familiale deficiëntie van glycosylfosfatidylinositol-verankerd hogedichtheidslipoproteïne-bindend proteïne 1 |
| pt | Deficiência de GPIHBP1 familiar | |
| pl | Deficyt rodzinny GPIHBP1 | = en |
| cs | Familiární deficit GPIHBP1 | = en |
| uk | Сімейний дефіцит GPIHBP1 | Сімейний дефіцит глікозилфосфатидилінозитол-звязуючого протеїну 1 ліпопротеїнів високої щільності |
| zh | 家族性GPIHBP1基因缺乏症 | 家族性糖基磷脂酰肌醇固着性高密度脂蛋白结合蛋白1缺乏症 |
| tr | Ailesel GPIHBP1 eksikliği | Ailesel glikozilfosfatidilinositol-bağlantılı yüksek yoğunluklu lipoprotein bağlayıcı protein 1 eksikliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615947 | E | validated | |
| ICD-10 | E78.3 | NTBT | attributed | validated |
| MONDO | 0014412 | 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 (1):
- ORPHA:444490Familial chylomicronemia syndrome
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GPIHBP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:24945 | ENSG00000277494 | 612757 | 8q24.3 | glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 | 25732519[PMID]_29980054[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | 25732519[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25732519[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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/535458
- This record as JSON: /data/d/535458.json