ODCs

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1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Cutaneous mastocytoma

Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation


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

Citations in the biomedical literature:

Cutaneous mastocytoma		Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
	Synonym(s): - Cutaneous local mastocytoma - Multiple mastocytoma - Solitary mastocytoma		Synonym(s): - aPLAID

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references 1 MeSH reference: D054705		External references: 1 OMIM reference - No MeSH references

Cutaneous mastocytoma
	Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Macules - Mastocytosis - Pruritus / itching - Subcutaneous nodules / lipomas / tumefaction / swelling - Urticaria - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Thick skin / pachydermia / orange skin Occasional - Acute abdominal pain / colic - Facial pain / cephalalgia / migraine - Hot flushes / sensation of cold
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
(no data available)