ORPHA:247623
Perinatal lethal hypophosphatasia
Synonyms: Perinatal lethal Rathbun disease · Perinatal lethal phosphoethanolaminuria
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization <i>in utero</i> due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Perinatal lethal hypophosphatasia | Perinatal lethal Rathbun disease · Perinatal lethal phosphoethanolaminuria |
| fr | Hypophosphatasie périnatale létale | Maladie de Rathbun périnatale létale · Phosphoéthanolaminurie périnatale létale |
| de | Hypophosphatasie, letale perinatale | Phosphoethanolaminurie, letale perinatale · Rathbun-Krankheit, letale perinatale |
| es | Hipofosfatasia perinatal letal | Enfermedad de Rathburn perinatal letal · Fosfoetanolaminuria perinatal letal |
| it | Ipofosfatasia perinatale letale | Fosfoetanolaminuria perinatale letale · Malattia di Rathburn perinatale letale |
| nl | Perinatale letale hypofosfatasie | Perinatale letale fosfo-ethanolaminurie · Perinatale letale ziekte van Rathburn |
| pt | Hipofosfatasia perinatal fatal | |
| pl | Prenatalna śmiertelna hipofosfatazja | Prenatalna śmiertelna choroba Rathburna · Prenatalna śmiertelna fosfoetanoloaminuria |
| cs | Perinatální letální hypofosfatázie | Perinatální letální Rathburnova choroba · Perinatální letální fosfoetanolaminurie |
| uk | Перинатальна летальна гіпофосфатазія | Перинатальна летальна фосфоетаноламінурія · Перинатальна летальна хвороба Ратбуна |
| zh | 围产期致命性低磷酸酯酶症 | 围产期致命性低磷酸酯酶症 |
| tr | Perinatal letal hipofosfatazi | Perinatal letal Rathbun hastalığı · Perinatal letal fosfoetanolaminüri |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 241500 | NTBT | validated | |
| ICD-10 | E83.3 | NTBT | attributed | validated |
| ICD-11 | 5C64.3 | NTBT | index | validated |
| MONDO | 0016605 | E | validated | |
| MeSH | C567107 | E | validated | |
| UMLS | C2673477 | 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 (1):
- ORPHA:436Hypophosphatasia
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/247623
- This record as JSON: /data/d/247623.json