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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
10 OMIM references -
12 associated genes
No signs/symptoms info
X-linked severe congenital neutropenia
Left ventricular noncompaction

WAS ACTC1
DTNA
LDB3
LMNA
MIB1
MYBPC3
MYH7
MYH7B
PRDM16
TAZ
TNNT2
TPM1


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
Left ventricular noncompaction
ACTC1 DTNA LDB3 LMNA MIB1 MYBPC3
MYH7 MYH7B PRDM16 TAZ TNNT2 TPM1



X-linked severe congenital neutropenia
Left ventricular noncompaction

Synonym(s):
(no synonyms)

Synonym(s):
- LVNC
- Left ventricular hypertrabeculation
- Spongy myocardium

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the circulatory system -

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:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
10 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



Left ventricular noncompaction

(no data available)