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Muir-Torre syndrome
1 OMIM reference -
3 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Autosomal dominant hyper-IgE syndrome
1 OMIM reference -
1 associated gene
38 signs/symptoms
Muir-Torre syndrome
Autosomal dominant hyper-IgE syndrome

MLH1
(UniProt - OMIM)
 STAT3
(UniProt - OMIM)
MSH2
(UniProt - OMIM)
MSH6
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MSH2
(0.63)
STAT3


Citations in the biomedical literature:


Muir-Torre syndrome
MLH1 MSH2 MSH6
Autosomal dominant hyper-IgE syndrome
STAT3



Muir-Torre syndrome
Autosomal dominant hyper-IgE syndrome

Synonym(s):
- Multiple keratoacanthoma, Muir-Torre type
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 eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (ICD10):
- Neoplasms -
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:
1 OMIM reference -
1 MeSH reference: D055653
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Autosomal dominant inheritance

Muir-Torre syndrome
Autosomal dominant hyper-IgE syndrome

Very frequent
- Adenoma sebaceum
- Skin tumors / lumps / epidermal cysts

Frequent
- Colon neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer

Occasional
- Breast neoplasm / tumor / carcinoma / cancer
- Hematologic / blood / lymphatic cancer
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Laryngeal neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Salivary gland neoplasm / tumor / carcinoma / cancer
- Ureteral / urethral / vesical / bladder neoplasm / tumor / carcinoma / cancer
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer


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
- 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