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Kostmann syndrome
1 OMIM reference -
1 associated gene
31 connected diseases
No signs/symptoms info
Disease Type of connection
Intrahepatic cholestasis of pregnancy
Lennox-Gastaut syndrome
Benign recurrent intrahepatic cholestasis type 2
Low phospholipid associated cholelithiasis
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Estrogen resistance syndrome
Anaplastic ependymoma
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Intermittent hydrarthrosis
Male infertility with normal virilization due to meiosis defect
TRAPS syndrome
Acute promyelocytic leukemia
Glycogen storage disease due to liver phosphorylase kinase deficiency
Huntington disease
Hypomyelination with atrophy of basal ganglia and cerebellum
Juvenile Huntington disease
Laron syndrome with immunodeficiency
Primary dystonia, DYT4 type
Pseudohypoaldosteronism type 2E
Treacher-Collins syndrome
X-linked lymphoproliferative disease
Young adult-onset Parkinsonism
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Melanoma of soft part
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic 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: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HAX1 O00165605998
No signs/symptoms info available.