ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
16 signs/symptoms

FGFR2-related bent bone dysplasia

Autosomal dominant hypophosphatemic rickets


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR2	(0.52)	FGF23

Citations in the biomedical literature:

FGFR2-related bent bone dysplasia		Autosomal dominant hypophosphatemic rickets
	Synonym(s): - Perinatal lethal bent bone dysplasia		Synonym(s): - ADHR - Autosomal dominant hypophosphatemia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare renal disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		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		External references: 1 OMIM reference - No MeSH references

Autosomal dominant hypophosphatemic rickets
	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
FGFR2-related bent bone dysplasia
(no data available)