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PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
2 associated genes
31 signs/symptoms
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Infantile myofibromatosis

IRF8 NOTCH3
PDGFRB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IRF8
(0.63)
PDGFRB



Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
IRF8
Infantile myofibromatosis
NOTCH3 PDGFRB



Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Infantile myofibromatosis

Synonym(s):
- MSMD due to partial IRF8 deficiency
- MSMD due to partial interferon regulatory factor 8 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Neoplasms -

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

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


COMMON
SIGNS
- Autosomal dominant inheritance


Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Infantile myofibromatosis

Very frequent
- Fever / chilling
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lymphadenopathy / polyadenopathies



Very frequent
- Bone cyst
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Fibromatosis / bone fibroma
- Metaphyseal anomaly
- Muscle anomalies
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Anomalies of chest / thorax / trunk
- Face / facial anomalies
- Intestinal / colonic anomaly
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Periarticular tissue anomaly / extraarticular calcifications
- Skull / cranial anomalies
- Thickened / hypertrophic / fibromatous gingivae

Occasional
- Anomalies of eyes and vision
- Anomalies of spine, vertebrae and pelvis
- Autosomal recessive inheritance
- Benign tumor of the brain / nervous system
- Chronic skin infection / ulcerations / ulcers / cancrum
- Early death / lethality
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypercalcemia
- Intestinal obstruction / ileus
- Irregular / in bands / reticular skin hyperpigmentation
- Osteolysis / osteoclasia / bone destruction / erosions
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Renal / kidney anomalies
- Restricted joint mobility / joint stiffness / ankylosis
- Sacro-coccyx / sacrum anomaly
- Tracheo-esophageal fistula / esophageal atresia / stenosis