ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
16 signs/symptoms

Severe achondroplasia - developmental delay - acanthosis nigricans

Autosomal dominant hypophosphatemic rickets


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR3	(0.52)	FGF23

Citations in the biomedical literature:

Severe achondroplasia - developmental delay - acanthosis nigricans		Autosomal dominant hypophosphatemic rickets
	Synonym(s): - SADDAN		Synonym(s): - ADHR - Autosomal dominant hypophosphatemia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin 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: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available 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


COMMON SIGNS	- Seizures / epilepsy / absences / spasms / status epilepticus

Severe achondroplasia - developmental delay - acanthosis nigricans		Autosomal dominant hypophosphatemic rickets
	Very frequent - Anomalies of bones / skeletal anomalies - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Clavicle absent / abnormal - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly		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 - Short stature / dwarfism / nanism - Structural anomalies of the respiratory system and diaphragm