ODCs

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Crouzon syndrome - acanthosis nigricans

1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Autosomal dominant hypophosphatemic rickets

1 OMIM reference -
1 associated gene
16 signs/symptoms

Crouzon syndrome - acanthosis nigricans

Autosomal dominant hypophosphatemic rickets

FGFR3

(UniProt - OMIM)

FGF23

(UniProt - OMIM)


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

Citations in the biomedical literature:

Crouzon syndrome - acanthosis nigricans		Autosomal dominant hypophosphatemic rickets
	Synonym(s): - Crouzono-dermoskeletal syndrome		Synonym(s): - ADHR - Autosomal dominant hypophosphatemia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - 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: <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


COMMON SIGNS	- Autosomal dominant inheritance

Crouzon syndrome - acanthosis nigricans		Autosomal dominant hypophosphatemic rickets
	Very frequent - Acanthosis nigricans - Frontal bossing / prominent forehead - High forehead Frequent - Abnormal vertebral size / shape - Arnold-Chiari anomaly - Brachycephaly / flat occiput - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Choanal atresia - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Conductive deafness / hearing loss - Cranial hypertension - Hydrocephaly - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Ptosis - Short hand / brachydactyly - Strabismus / squint - Turricephaly / oxycephaly / acrocephaly Occasional - Beaked nose - Facial pain / cephalalgia / migraine - High vaulted / narrow palate - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sacro-coccyx / sacrum anomaly - Visual loss / blindness / amblyopia		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 - Short stature / dwarfism / nanism - Structural anomalies of the respiratory system and diaphragm