ODCs

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1 OMIM reference -
1 associated gene
5 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

6 associated genes
19 signs/symptoms

Pyogenic bacterial infections due to MyD88 deficiency

Limited cutaneous systemic sclerosis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MYD88	(0.81)	IRF5

Citations in the biomedical literature:

Pyogenic bacterial infections due to MyD88 deficiency		Limited cutaneous systemic sclerosis
	Synonym(s): - MyD88 deficiency		Synonym(s): - Limited cutaneous systemic scleroderma

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare cardiac disease - Rare renal disease - Rare respiratory disease - Rare skin disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: child / adolescent Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: sporadic

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


COMMON SIGNS	- Chronic skin infection / ulcerations / ulcers / cancrum

Pyogenic bacterial infections due to MyD88 deficiency		Limited cutaneous systemic sclerosis
	Very frequent - Autosomal recessive inheritance - Immunodeficiency / increased susceptibility to infections / recurrent infections Frequent - Nasal congestion / sinusitis / rhinitis / rhinorrhea Occasional - Fever / chilling		Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anomalies of skin, subcutaneous tissue and mucosae - Autoimmunity / autoimmune reaction / autoantibodies - Dermal / subcutaneous infiltration / induration - Dry / squaly skin / exfoliation - Irregular / patchy skin hypopigmentation Frequent - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Nausea / vomiting / regurgitation / merycism / hyperemesis - Periarticular tissue anomaly / extraarticular calcifications - Telangiectasiae of mucosae - Telangiectasiae of the skin Occasional - Claw hand / retracted fingers - Claw toes / retracted toes - Lung fibrosis - Musculo-tendinous retractions - Pulmonary hypertension