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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
8 OMIM references -
8 associated genes
No signs/symptoms info
X-linked severe congenital neutropenia
Atrial septal defect, ostium secundum type

WAS ACTC1
CITED2
GATA4
GATA6
MYH6
NKX2-5
TBX20
TLL1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WAS
(0.62)
ACTC1



Citations in the biomedical literature:


X-linked severe congenital neutropenia
WAS
Atrial septal defect, ostium secundum type
ACTC1 CITED2 GATA4 GATA6 MYH6 NKX2-5
TBX20 TLL1



X-linked severe congenital neutropenia
Atrial septal defect, ostium secundum type

Synonym(s):
(no synonyms)

Synonym(s):
- ASD, ostium secundum type

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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: x-linked recessive
Epidemiological data:
(no data available)

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

X-linked severe congenital neutropenia

Very frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Polynuclear cells / neutrophils anomalies / neutropenia
- X-linked recessive inheritance



Atrial septal defect, ostium secundum type

(no data available)