ODCs

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7 OMIM references -
6 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
18 signs/symptoms

Hypotrichosis simplex

Pyogenic arthritis - pyoderma gangrenosum - acne


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RPL21	(0.72)	PSTPIP1

Citations in the biomedical literature:

Hypotrichosis simplex		Pyogenic arthritis - pyoderma gangrenosum - acne
	Synonym(s): - Hereditary hypotrichosis simplex		Synonym(s): - FRA - Familial recurrent arthritis - PAPA syndrome

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

	Classification (ICD10): - Diseases of the skin and subcutaneous tissue -		Classification (ICD10): (no data available)

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

	External references: 7 OMIM references - 1 MeSH reference: C537160		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Hypotrichosis simplex		Pyogenic arthritis - pyoderma gangrenosum - acne
	Very frequent - Absent / decreased lashes - Absent / decreased / thin eyebrows - Alopecia - Autosomal recessive inheritance - Decreased body hair / axillar / pubic hairlessness - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Frequent - Lanugo - Woolly / frizzy hair Occasional - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Pruritus / itching		Very frequent - Acne / acnea - Arthritis / synovitis / synovial proliferation - Asthenia / fatigue / weakness - 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