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Autosomal dominant hypophosphatemic rickets
1 OMIM reference -
1 associated gene
36 connected diseases
16 signs/symptoms
Disease Type of connection
Hypercalcemic tumoral calcinosis
Giant cell glioblastoma
Gliosarcoma
Pfeiffer syndrome type 1
Cutis gyrata - acanthosis nigricans - craniosynostosis
Lacrimo-auriculo-dento-digital syndrome
Saethre-Chotzen syndrome
Hartsfield-Bixler-Demyer syndrome
Isolated trigonocephaly
Kallmann syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia
Osteoglophonic dwarfism
Pilocytic astrocytoma
Septo-optic dysplasia
Achondroplasia
Antley-Bixler syndrome
Apert syndrome
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon disease
Crouzon syndrome - acanthosis nigricans
FGFR2-related bent bone dysplasia
Familial scaphocephaly syndrome, McGillivray type
Hypochondroplasia
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Jackson-Weiss syndrome
Muenke syndrome
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
X-linked hypophosphatemia
Synonym(s):
- ADHR
- Autosomal dominant hypophosphatemia
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FGF23 Q9GZV9605380
Very frequent
- Asthenia / fatigue / weakness
- Autosomal dominant inheritance
- Bone pain
- Hypophosphatemia
- Muscle weakness / flaccidity
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Frequent
- Mutiple fractures / bone fragility
- Periarticular tissue anomaly / extraarticular calcifications

Occasional
- Anomalies of teeth and dentition
- Heart / cardiac failure
- Myocardium anomalies / myocarditis
- Obnubilation / coma / lethargia / desorientation
- Rachidian / spine canal stenosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Structural anomalies of the respiratory system and diaphragm