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Pancytopenia due to IKZF1 mutations
1 associated gene
20 connected diseases
No signs/symptoms info
Disease Type of connection
Precursor B-cell acute lymphoblastic leukemia
Coffin-Siris syndrome
Spinocerebellar ataxia type 17
Autosomal recessive nonsyndromic intellectual deficit
Distal monosomy 3p
2q37 microdeletion syndrome
16q24.3 microdeletion syndrome
Acute basophilic leukemia
Beta-thalassemia - X-linked thrombocytopenia
Congenital erythropoietic porphyria
Familial multiple meningioma
Hereditary breast and ovarian cancer syndrome
Jawad syndrome
KBG syndrome
Lissencephaly type 1 due to doublecortin gene mutation
Seckel syndrome
Subcortical band heterotopia
Thrombocytopenia with congenital dyserythropoietic anemia
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Familial rhabdoid tumor
Synonym(s):
- CID due to ikaros deficiency
- Combined immunodeficiency due to ikaros deficiency
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:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
IKZF1 Q13422603023
No signs/symptoms info available.