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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
2 associated genes
1 sign/symptom
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Familial hypospadias

PLCG2 AR
MAMLD1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
PLCG2
Familial hypospadias
AR MAMLD1



Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Familial hypospadias

Synonym(s):
- aPLAID

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare urogenital 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: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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

Familial hypospadias

Very frequent
- Hypospadias / epispadias / bent penis



Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation

(no data available)