ORPHA:247651
Infantile hypophosphatasia
Synonyms: Infantile Rathbun disease · Infantile phosphoethanolaminuria
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile hypophosphatasia | Infantile Rathbun disease · Infantile phosphoethanolaminuria |
| fr | Hypophosphatasie infantile | Maladie de Rathbun infantile · Phosphoéthanolaminurie infantile |
| de | Hypophosphatasie, infantile | Phosphoethanolaminurie, infantile · Rathburn-Krankheit, infantile |
| es | Hipofosfatasia del lactante | Enfermedad de Rathburn del lactante · Fosfoetanolaminuria del lactante |
| it | Ipofosfatasia infantile precoce | Fosfoetanolaminuria infantile · Malattia di Rathburn infantile |
| nl | Infantiele hypofosfatasie | Infantiele fosfo-ethanolaminurie · Infantiele ziekte van Rathburn |
| pt | Hipofosfatasia da infância | |
| pl | Hipofosfatazja dziecięca | Dziecięca choroba Rathburna · Dziecięca fosfoetanoloaminuria |
| cs | Infantilní hypofosfatázie | Infantilní Rathburnova choroba · Infantilní fosfoetanolaminurie |
| uk | Інфантильна гіпофосфатазія | Інфантильна фосфоетаноламінурія · Дитяча хвороба Ратбуна |
| zh | 婴儿型低磷酸酯酶症 | 小儿低磷酸酯酶症 |
| tr | İnfantil hipofosfatazi | İnfantil Rathbun hastalığı · İnfantil fosfoetanolaminüri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 241500 | E | validated | |
| ICD-10 | E83.3 | NTBT | attributed | validated |
| ICD-11 | 5C64.3 | NTBT | index | validated |
| MeSH | C562646 | E | validated | |
| UMLS | C0268412 | 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 (3):
- ORPHA:436Hypophosphatasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological 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/247651
- This record as JSON: /data/d/247651.json