ORPHA:247676
Adult hypophosphatasia
Synonyms: Adult Rathbun disease · Adult phosphoethanolaminuria
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adult
- Status
- active
A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult hypophosphatasia | Adult Rathbun disease · Adult phosphoethanolaminuria |
| fr | Hypophosphatasie de l'adulte | Maladie de Rathbun de l'adulte · Phosphoéthanolaminurie de l'adulte |
| de | Hypophosphatasie des Erwachsenen | Phosphoethanolaminurie, adulte · Rathburn-Krankheit, adulte |
| es | Hipofosfatasia del adulto | Enfermedad de Rathburn del adulto · Fosfoetanolaminuria del adulto |
| it | Ipofosfatasia dell'adulto | Fosfoetanolaminuria dell'adulto · Malattia di Rathburn dell'adulto |
| nl | Volwassen hypofosfatasie | Volwassen fosfo-ethanolaminurie · Ziekte van Rathburn bij volwassenen |
| pt | Hipofosfatasia no adulto | |
| pl | Hipofosfatazja dorosłych | Choroba Rathburna dorosłych · Fosfoetanoloaminuria dorosłych |
| cs | Adultní hypofosfatázie | Adultní Rathburnova choroba · Adultní fosfoetanolaminurie |
| uk | Гіпофосфатазія у дорослих | Фосфоетаноламінурія у дорослих · Хвороба Ратбуна у дорослих |
| zh | 成人型低磷酸酯酶症 | 成人低磷酸酯酶症 |
| tr | Yetişkin hipofosfatazi | Erişkin Rathbun hastalığı · Erişkin fosfoetanolaminüri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 146300 | E | validated | |
| ICD-10 | E83.3 | NTBT | attributed | validated |
| ICD-11 | 5C64.3 | NTBT | attributed | validated |
| MeSH | C562647 | E | validated | |
| UMLS | C0268413 | 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:436Hypophosphatasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALPL | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:438 | ENSG00000162551 | 171760 | 1p36.12 | alkaline phosphatase, biomineralization associated | 10737975[PMID]_17916236[PMID]_20301329[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
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/247676
- This record as JSON: /data/d/247676.json