Cytoscape Web
Click node...


WHIM syndrome
1 OMIM reference -
1 associated gene
26 connected diseases
No signs/symptoms info
Disease Type of connection
Syndromic multisystem autoimmune disease due to Itch deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Kufor-Rakeb syndrome
Parkinsonim due to ATP13A2 deficiency
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Metachondromatosis
Noonan syndrome
Acute promyelocytic leukemia
Autosomal dominant hyper-IgE syndrome
Autosomal dominant severe congenital neutropenia
Chronic mucocutaneous candidiasis
Cyclic neutropenia
Laron syndrome with immunodeficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Synonym(s):
- Warts-hypogammaglobulinemia-infections-myelokathexis

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: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536697

Gene symbol UniProt reference OMIM reference
CXCR4 P61073162643
No signs/symptoms info available.