ORPHA:247638
Prenatal benign hypophosphatasia
Synonyms: Prenatal benign Rathbun disease · Prenatal benign phosphoethanolaminuria
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Prenatal benign hypophosphatasia | Prenatal benign Rathbun disease · Prenatal benign phosphoethanolaminuria |
| fr | Hypophosphatasie prénatale bénigne | Maladie de Rathbun prénatale benine · Phosphoéthanolaminurie prénatale benine |
| de | Hypophosphatasie, benigne pränatale | Phosphoethanolaminurie, benigne pränatale · Rathburn-Krankheit, benigne pränatale |
| es | Hipofosfatasia prenatal benigna | Enfermedad de Rathburn prenatal benigna · Fosfoetanolaminuria prenatal benigna |
| it | Ipofosfatasia prenatale benigna | Fosfoetanolaminuria prenatale benigna · Malattia di Rathburn prenatale benigna |
| nl | Prenatale goedaardige hypofosfatasie | Prenatale goedaardige fosfo-ethanolaminurie · Prenatale goedaardige ziekte van Rathburn |
| pt | Hipofosfatasia pré-natal benigna | Doença de Rathbun benigna prénatal · Fosfoetanolaminuria benigna pré-natal |
| pl | Prenatalna łagodna hipofosfatazja | Prenatalna łagodna choroba Rathburna · Prenatalna łagodna fosfoetanoloaminuria |
| cs | Prenatální benigní hypofosfatázie | Prenatální benigní Rathburnova choroba · Prenatální benigní fosfoetanolaminurie |
| uk | Пренатальна доброякісна гіпофосфатазія | Пренатальна доброякісна фосфоетаноламінурія · Пренатальна доброякісна хвороба Ратбуна |
| zh | 围产期良性低磷酸酯酶症 | 围产期良性低磷酸酯酶症 |
| tr | Doğum öncesi selim hipofosfatazi | Doğum öncesi selim Rathbun hastalığı · Doğum öncesi selim fosfoetanolaminüri |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E83.3 | NTBT | attributed | validated |
| ICD-11 | 5C64.3 | NTBT | index | validated |
| UMLS | C5679616 | 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:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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/247638
- This record as JSON: /data/d/247638.json