Childhood-onset hypophosphatasia
Synonyms: Childhood-onset Rathbun disease · Childhood-onset phosphoethanolaminuria
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Childhood-onset hypophosphatasia | Childhood-onset Rathbun disease · Childhood-onset phosphoethanolaminuria |
| fr | Hypophosphatasie de l'enfant | Maladie de Rathbun de l'enfant · Phosphoéthanolaminurie de l'enfant |
| de | Hypophosphatasie mit Beginn im Kindesalter | Phosphoethanolaminurie mit Beginn im Kindesalter · Rathburn-Krankheit mit Beginn im Kindesalter |
| es | Hipofosfatasia de inicio en la infancia | Enfermedad de Rathburn de inicio en la infancia · Fosfoetanolaminuria de inicio en la infancia |
| it | Ipofosfatasia a esordio infantile | Fosfoetanolaminuria a esordio infantile · Malattia di Rathburn a esordio infantile |
| nl | Hypofosfatasie met aanvang in de kindertijd | Fosfo-ethanolaminurie met aanvang in de kindertijd · Ziekte van Rathburn met aanvang in de kindertijd |
| pt | Hipofosfatasia com início na infância | |
| pl | Hipofosfatazja o początku w wieku dziecięcym | Choroba Rathburna o początku w wieku dziecięcym · Fosfoetanoloaminuria o początku w wieku dziecięcym |
| cs | Hypofosfatázie s nástupem v dětství | Rathburnova choroba s nástupem v dětství · Fosfoetanolaminurie s nástupem v dětství |
| uk | Гіпофосфатазія в дитячому віці | Фосфоетаноламінурія в дитячому віці · Хвороба Ратбуна, що починається в дитинстві |
| zh | 儿童起病低磷酸酯酶症 | 儿童起病低磷酸酯酶症 |
| tr | Çocukluk çağı başlangıçlı hipofosfatazi | Çocukluk çağı-başlangıçlı Rathbun hastalığı · Çocukluk çağı-başlangıçlı fosfoetanolaminüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 241510 | E | validated | |
| ICD-10 | E83.3 | NTBT | attributed | validated |
| ICD-11 | 5C64.3 | NTBT | attributed | validated |
| MeSH | C562440 | E | validated | |
| UMLS | C0220743 | E | validated | |
| GARD | 8735 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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.
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] |
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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247667
- This record as JSON: /data/d/247667.json