ODCs

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1 OMIM reference -
1 associated gene
20 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
16 signs/symptoms

Osteoglophonic dwarfism

Autosomal dominant hypophosphatemic rickets


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR1	(0.63)	FGF23

Citations in the biomedical literature:

Osteoglophonic dwarfism		Autosomal dominant hypophosphatemic rickets
	Synonym(s): (no synonyms)		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): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: - Average age onset: - 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 - 1 MeSH reference: C536050		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Short stature / dwarfism / nanism

Osteoglophonic dwarfism		Autosomal dominant hypophosphatemic rickets
	Very frequent - Abnormal vertebral size / shape - Anodontia / oligodontia / hypodontia - Craniostenosis / craniosynostosis / sutural synostosis - Hypertelorism Frequent - Anteverted nares / nostrils - Clavicle absent / abnormal - Delayed bone age - Failure to thrive / difficulties for feeding in infancy / growth delay - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent / bat ears - Rhizomelic micromelia Occasional - Abnormal / absent ossification - Choanal atresia - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Scoliosis - Short hand / brachydactyly - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - Asthenia / fatigue / weakness - 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 - Structural anomalies of the respiratory system and diaphragm