ORPHA:437
Hypophosphatemic rickets
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant
- Age of onset
- All ages
- Status
- active
A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypophosphatemic rickets | |
| fr | Rachitisme hypophosphatémique | |
| de | Hypophosphatämische Rachitis | |
| es | Raquitismo hipofosfatémico | |
| it | Rachitismo ipofosfatemico | |
| nl | Hypofosfatemische rachitis | |
| pt | Raquitismo hipofostatémico | Raquitismo resistente à vitamina D |
| pl | Krzywica hipofosfatemiczna | |
| cs | Hypofosfatemická rachitida | Hypofosfatemická vitamin D-rezistentní rachitida · Familiární hypofosfatemická rachitida · X-vázaná recesivní hypofosfatemická rachitis · X-vázaná hypofosfatemická křivice |
| uk | Гіпофосфатемічний рахіт | |
| zh | 低磷性佝偻病 | |
| tr | Hipofosfatemik raşitizm |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C63.22 | E | specific | validated |
| MONDO | 0000044 | E | validated | |
| MONDO | 44 | E | validated | |
| MeSH | D063730 | E | validated | |
| UMLS | C1704375 | E | validated | |
| GARD | 6735 | E | validated | |
| MedDRA | 10060873 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:289098Disorders of vitamin D metabolism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases; rare bone diseases - ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases
Children (7):
- ORPHA:89937Autosomal dominant hypophosphatemic rickets
- ORPHA:289176Autosomal recessive hypophosphatemic rickets
- ORPHA:213Cystinosis
- ORPHA:1652Dent disease
- ORPHA:244305Dominant hypophosphatemia with nephrolithiasis or osteoporosis
- ORPHA:157215Hereditary hypophosphatemic rickets with hypercalciuria
- ORPHA:89936X-linked hypophosphatemia
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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.
6
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/437
- This record as JSON: /data/d/437.json