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1 OMIM reference -
2 associated genes
11 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
16 signs/symptoms
Isolated plagiocephaly
Autosomal dominant hypophosphatemic rickets

FGFR3 FGF23
TCF12


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Isolated plagiocephaly
FGFR3 TCF12
Autosomal dominant hypophosphatemic rickets
FGF23



Isolated plagiocephaly
Autosomal dominant hypophosphatemic rickets

Synonym(s):
- Non-syndromic unicoronal synostosis
- Synostotic plagiocephaly

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: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: normal
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


Isolated plagiocephaly
Autosomal dominant hypophosphatemic rickets

Very frequent
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Frontal bossing / prominent forehead
- Plagiocephaly

Frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Strabismus / squint

Occasional
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface


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