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11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
38 signs/symptoms
MODY syndrome
Autosomal dominant hyper-IgE syndrome

ABCC8 STAT3
BLK
CEL
GCK
HNF1A
HNF4A
INS
KCNJ11
KLF11
NEUROD1
PAX4
PDX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HNF1A
(0.73)
STAT3



Citations in the biomedical literature:


MODY syndrome
ABCC8 BLK CEL GCK HNF1A HNF4A
INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1

Autosomal dominant hyper-IgE syndrome
STAT3



MODY syndrome
Autosomal dominant hyper-IgE syndrome

Synonym(s):
- Maturity-onset diabetes of the young

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 endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
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:
11 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Autosomal dominant hyper-IgE syndrome

Very frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- Atelectasia / pulmonary collapse
- Autosomal dominant inheritance
- 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
- Repeat respiratory infections

Frequent
- Anomalies of teeth and dentition
- Broad nose / nasal bridge
- Chronic / relapsing otitis
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Cough
- Deepset eyes / enophthalmos
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dysplastic / thick / grooved fingernails
- Eosinophils anomalies / hypereosinophilia
- Face / facial anomalies
- Follicular / erythematous / edematous papules / milium
- Frontal bossing / prominent forehead
- Gingivitis
- Hair and scalp anomalies
- Hyperextensible joints / articular hyperlaxity
- Mutiple fractures / bone fragility
- Onyxis / paronyxis / ungual inflammation
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Scoliosis

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


MODY syndrome

(no data available)