ODCs

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

PROTEIN INTERACTIONS: 1

1 associated gene
3 signs/symptoms

PLCG2-associated antibody deficiency and immune dysregulation

Pseudoxanthomatous diffuse cutaneous mastocytosis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PLCG2	(0.72)	KIT

Citations in the biomedical literature:

PLCG2-associated antibody deficiency and immune dysregulation		Pseudoxanthomatous diffuse cutaneous mastocytosis
	Synonym(s): - FACU - Familial atypical cold urticaria - Familial cold urticaria with common variable immunodeficiency - PLAID		Synonym(s): - Infiltrative small vesicular DCM - Infiltrative small vesicular diffuse cutaneous mastocytosis - Pseudoxanthomatous DCM

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

	Classification (ICD10): - Diseases of the skin and subcutaneous tissue -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

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

Pseudoxanthomatous diffuse cutaneous mastocytosis
	Very frequent - Dermal / subcutaneous infiltration / induration - Mastocytosis - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
PLCG2-associated antibody deficiency and immune dysregulation
(no data available)