raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:89937

Autosomal dominant hypophosphatemic rickets

Synonyms: ADHR · Autosomal dominant hypophosphatemia

Type
Disease
Group
Disorder
Inheritance
Autosomal dominant
Age of onset
Adolescent, Adult, Childhood, Infancy
Status
active

A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enAutosomal dominant hypophosphatemic ricketsADHR · Autosomal dominant hypophosphatemia
frRachitisme hypophosphatémique autosomique dominantADHR · Hypophosphatémie autosomique dominante
deRachitis, hypophosphatämische, autosomal-dominanteADHR · Hypophosphatämie, autosomal-dominante
esRaquitismo hipofosfatémico autosómico dominanteADHR · Hipofosfatemia autosómica dominante
itRachitismo ipofosfatemico autosomico dominanteADHR · Ipofosfatemia autosomica dominante
nlAutosomaal dominante hypofosfatemische rachitisADHR · Autosomaal dominante hypofosfatemie
ptRaquitismo hipofosfatémico autossómico dominante
plAutosomalna dominująca krzywica hipofosfatemicznaADHR · Autosomalna dominująca hipofosfatemia
csAutozomálně dominantní hypofosfatemická křiviceADHR · Autozomálně dominantní hypofosfatémie
ukАутосомно-домінантний гіпофосфатемічний рахітADHR · Аутосомно-домінантна гіпофосфатемія
zh常染色体显性遗传低磷性佝偻病常染色体显性遗传性低磷血症
trOtozomal dominant hipofosfatemik raşitizmADHR · Otozomal baskın hipofosfatemi

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM193100Evalidated
ICD-10E83.3NTBTattributedvalidated
ICD-115C63.22NTBTindexvalidated
MONDO0008660Evalidated
MeSHC562791Evalidated
UMLSC0342642Evalidated

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 (1):

  • ORPHA:437Hypophosphatemic rickets
    rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare endocrine diseases; rare bone diseases

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
FGF23Disease-causing germline mutation(s) (gain of function) inAssessedHGNC:3680ENSG0000011897260538012p13.32fibroblast growth factor 2311062477[PMID]_19655082[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families100 casesWorldwideCase(s)ValidatedORPHANET
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidatedORPHANET

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

15 annotations · validated 2020-12-18
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0003109Hyperphosphaturia
HP:0002148Hypophosphatemia
Frequent (79-30%)
HP:0002653Bone pain
HP:0002979Bowing of the legs
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0012378Fatigue
HP:0001510Growth delay
HP:0001891Iron deficiency anemia
HP:0100512Low levels of vitamin D
HP:0001324Muscle weakness
HP:0002749Osteomalacia
HP:0002748Rickets
HP:0030757Tooth abscess
Occasional (29-5%)
HP:0020110Bone fracture
Very rare (<4-1%)
HP:0002901Hypocalcemia

Run the differential on the 2 obligate / very frequent terms

Annotation source: 31486862[PMID]_31756522[PMID]_31486862[PMID]

7

Sources for this card