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2 OMIM references -
1 associated gene
40 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 10
1 OMIM reference -
1 associated gene
38 signs/symptoms
Cleidocranial dysplasia
Autosomal dominant hyper-IgE syndrome

RUNX2 STAT3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RUNX2
(0.63)
STAT3



Citations in the biomedical literature:


Cleidocranial dysplasia
RUNX2
Autosomal dominant hyper-IgE syndrome
STAT3



Cleidocranial dysplasia
Autosomal dominant hyper-IgE syndrome

Synonym(s):
- Cleidocranial dysostosis

Synonym(s):
- AD-HIES
- Autosomal dominant HIES
- Autosomal dominant hyperimmunoglobulin E syndrome
- Buckley syndrome
- Hyperimmunoglobulin E syndrome type 1
- Hyperimmunoglobulin E-recurrent infection syndrome
- Job syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: D002973
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Anomalies of teeth and dentition
- Autosomal dominant inheritance
- Chronic / relapsing otitis
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Frontal bossing / prominent forehead
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Repeat respiratory infections
- Scoliosis


Cleidocranial dysplasia
Autosomal dominant hyper-IgE syndrome

Very frequent
- Clavicle absent / abnormal
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- High vaulted / narrow palate
- Hypertelorism
- Hypoplastic mandibula / partial absence of the mandibula
- Large fontanelle / delayed fontanelle closure
- Narrow / sloping shoulders
- Short stature / dwarfism / nanism
- Supernumerary teeth / polyodontia
- Wormian bones

Frequent
- Anomalies of ear and hearing
- Anomalies of the ribs
- Dental malocclusion
- Hearing loss / hypoacusia / deafness
- Narrow rib cage / thorax
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Poorly ossified skull / calvarium
- Sacro-coccyx / sacrum anomaly
- Short hand / brachydactyly
- Sloping forehead
- Small face

Occasional
- Apnea / sleep apnea
- Brachycephaly / flat occiput
- Epiphyseal anomaly
- Genu valgum
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Motor deficit / trouble
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Tapered fingers
- Thumb anomalies (excluding hypoplasia)


Very frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- Atelectasia / pulmonary collapse
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Eczema
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Pruritus / itching

Frequent
- Broad nose / nasal bridge
- Cough
- Deepset eyes / enophthalmos
- Dysplastic / thick / grooved fingernails
- Eosinophils anomalies / hypereosinophilia
- Face / facial anomalies
- Follicular / erythematous / edematous papules / milium
- Gingivitis
- Hair and scalp anomalies
- Hyperextensible joints / articular hyperlaxity
- Onyxis / paronyxis / ungual inflammation

Occasional
- Arterial aneurism (excluding aorta)
- Autosomal recessive inheritance
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Craniostenosis / craniosynostosis / sutural synostosis
- Fever / chilling
- Lymphoma
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment