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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
3 signs/symptoms
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Pseudoxanthomatous diffuse cutaneous mastocytosis

PLCG2 KIT


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
PLCG2
Pseudoxanthomatous diffuse cutaneous mastocytosis
KIT



Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Pseudoxanthomatous diffuse cutaneous mastocytosis

Synonym(s):
- aPLAID

Synonym(s):
- Infiltrative small vesicular DCM
- Infiltrative small vesicular diffuse cutaneous mastocytosis
- Pseudoxanthomatous DCM

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

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



Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation

(no data available)