ORPHA:89936
X-linked hypophosphatemia
Synonyms: X-linked hypophosphatemic rickets · XLH
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked hypophosphatemia | X-linked hypophosphatemic rickets · XLH |
| fr | Hypophosphatémie liée à l'X | Rachitisme hypophosphatémique lié à l'X · XLH |
| de | Hypophosphatämie, X-chromosomale | Rachitis, hypophosphatämische, X-chromosomale · XLH |
| es | Hipofosfatemia ligada al cromosoma X | Raquitismo hipofosfatémico ligado al cromosoma X · XLH |
| it | Ipofosfatemia legata all'X | Rachitismo ipofosfatemico legato all'X · XLH |
| nl | X-gebonden hypofosfatemie | X-gebonden hypofosfatemische rachitis · XLH |
| pt | Hipofosfatemia ligada ao X | |
| pl | Hipofosfatemia sprzężona z chromosomem X | Krzywica hipofosfatemiczna sprzężona z chromosomem X · XLH |
| cs | X-vázaná hypofosfatémie | XLH · X-vázaná hypofosfatemická rachitida/křivice |
| uk | Х-зчеплена гіпофосфатемія | XLH · Х-зчеплений гіпофосфатемічний рахіт |
| zh | X-连锁低磷血症 | X-连锁低磷性佝偻病 |
| tr | X'e bağlı hipofosfatemi | XLH · X'e bağlı hipofosfatemik raşitizm |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 307800 | E | validated | |
| ICD-10 | E83.3 | NTBT | attributed | validated |
| ICD-11 | 5C63.22 | NTBT | index | validated |
| MONDO | 0010619 | E | validated | |
| MONDO | 10619 | E | validated | |
| UMLS | C3540852 | E | validated | |
| GARD | 12943 | 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:437Hypophosphatemic rickets
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare endocrine diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PHEX | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8918 | ENSG00000102174 | 300550 | Xp22.11 | phosphate regulating endopeptidase X-linked | 22319799[PMID] |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.89 / 100 000 | Norway | Value and class | Validated | 26543054[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.54 / 100 000 | United Kingdom | Value and class | Validated | 31730177[PMID] |
| Annual incidence | 1-9 / 100 000 | 4.5 / 100 000 | Worldwide | Value and class | Validated | 34009447[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 2.14 / 100 000 | Worldwide | Value and class | Validated | 34009447[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 1.66 / 100 000 | Europe | Value and class | Validated | 26543054[PMID]_31730177[PMID] |
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
52 annotations · validated 2024-09-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006490 | Abnormality of lower-limb metaphyses | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0003127 | Hypocalciuria | |
| HP:0002148 | Hypophosphatemia | |
| HP:0000117 | Renal phosphate wasting | |
| HP:0002748 | Rickets | |
| Frequent (79-30%) | ||
| HP:0010299 | Abnormality of dentin | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002829 | Arthralgia | |
| HP:0002653 | Bone pain | |
| HP:0002979 | Bowing of the legs | |
| HP:0006487 | Bowing of the long bones | |
| HP:0025335 | Delayed ability to stand | |
| HP:0031936 | Delayed ability to walk | |
| HP:0003498 | Disproportionate short stature | |
| HP:0008144 | Flattening of the talar dome | |
| HP:0002857 | Genu valgum | |
| HP:0002970 | Genu varum | |
| HP:0001510 | Growth delay | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000694 | Odontodysplasia | |
| HP:0000897 | Rachitic rosary | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0008117 | Shortening of the talar neck | |
| HP:0030757 | Tooth abscess | |
| HP:0003856 | Upper limb metaphyseal widening | |
| Occasional (29-5%) | ||
| HP:0001369 | Arthritis | |
| HP:0007099 | Chiari type I malformation | |
| HP:0001363 | Craniosynostosis | |
| HP:0002015 | Dysphagia | |
| HP:6000407 | Elevated circulating fibroblast growth factor 23 concentration | |
| HP:0000920 | Enlargement of the costochondral junction | |
| HP:0100686 | Enthesitis | |
| HP:0012378 | Fatigue | |
| HP:0002869 | Flared iliac wings | |
| HP:0002007 | Frontal bossing | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0006640 | Multiple ribs fractures | |
| HP:0001324 | Muscle weakness | |
| HP:0000787 | Nephrolithiasis | |
| HP:0012449 | Sacroiliac joint synovitis | |
| HP:0000867 | Secondary hyperparathyroidism | |
| HP:0002360 | Sleep abnormality | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0002176 | Spinal cord compression | |
| HP:0025369 | Thick growth plates | |
| HP:0000360 | Tinnitus | |
| HP:0006432 | Trapezoidal distal femoral condyles | |
| HP:0008442 | Vertebral hyperostosis | |
| Very rare (<4-1%) | ||
| HP:0100658 | Cellulitis | |
| HP:0005789 | Generalized osteosclerosis | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 30928313[PMID]_22319799[PMID]_39181153[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/89936
- This record as JSON: /data/d/89936.json