ODCs

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1 OMIM reference -
1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
18 signs/symptoms

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Pyogenic arthritis - pyoderma gangrenosum - acne


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DSP	(0.63)	PSTPIP1

Citations in the biomedical literature:

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome		Pyogenic arthritis - pyoderma gangrenosum - acne
	Synonym(s): - Carvajal syndrome - Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome - Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy - Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome		Synonym(s): - FRA - Familial recurrent arthritis - PAPA syndrome

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

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood 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

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome		Pyogenic arthritis - pyoderma gangrenosum - acne
	Very frequent - Autosomal recessive inheritance - Cardiomyopathy / hypertrophic / dilated - Palmoplantar hyperkeratosis / keratoderma - Woolly / frizzy hair Occasional - Heart / cardiac failure - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment		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