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X-linked severe congenital neutropenia
1 OMIM reference -
1 associated gene
33 connected diseases
3 signs/symptoms
Disease Type of connection
Wiskott-Aldrich syndrome
X-linked thrombocytopenia with normal platelets
Pyogenic arthritis - pyoderma gangrenosum - acne
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Autosomal agammaglobulinemia
SHORT syndrome
Autosomal recessive lymphoproliferative disease
Distal 22q11.2 microdeletion syndrome
Severe combined immunodeficiency due to LCK deficiency
Giant cell glioblastoma
Gliosarcoma
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Giant cell arteritis
Granulomatosis with polyangiitis
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Pediatric systemic lupus erythematosus
T-B+ severe combined immunodeficiency due to CD45 deficiency
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant centronuclear myopathy
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Atrial septal defect, ostium secundum type
Familial isolated dilated cardiomyopathy
Left ventricular noncompaction
Neutrophil immunodeficiency syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
WAS P42768300392
Very frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Polynuclear cells / neutrophils anomalies / neutropenia
- X-linked recessive inheritance