ODCs

Click node...

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
18 signs/symptoms

AICA-ribosiduria

Pyogenic arthritis - pyoderma gangrenosum - acne


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ATIC	(0.76)	PSTPIP1

Citations in the biomedical literature:

AICA-ribosiduria		Pyogenic arthritis - pyoderma gangrenosum - acne
	Synonym(s): - 5-amino-4-imidazole carboxamide ribosiduria - ATIC deficiency		Synonym(s): - FRA - Familial recurrent arthritis - PAPA syndrome

	Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare skin disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

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

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

Pyogenic arthritis - pyoderma gangrenosum - acne
	Very frequent - Acne / acnea - Arthritis / synovitis / synovial proliferation - Asthenia / fatigue / weakness - Autosomal dominant inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Fever / chilling - Pustula / pustulosis - Restricted joint mobility / joint stiffness / ankylosis Frequent - Articular / joint pain / arthralgia - Lymphadenopathy / polyadenopathies - Monoclonal immunoglobulins / gammapathy / dysglobulinemia Occasional - Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP - Bone marrow failure / pancytopenia - Functional colopathy / irritable bowel syndrome - Furuncle / cutaneous abscess / hidrosadenitis suppurativa - Insulin-dependent / type 1 diabetes - Myositis - Proteinuria
AICA-ribosiduria
(no data available)