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Idiopathic aplastic anemia
3 OMIM references -
5 associated genes
49 connected diseases
No signs/symptoms info
Disease Type of connection
Dyskeratosis congenita
Idiopathic pulmonary fibrosis
Hoyeraal-Hreidarsson syndrome
Familial hemophagocytic lymphohistiocytosis
Familial melanoma
Fatal post-viral neurodegenerative disorder
Shwachman-Diamond syndrome
B-cell chronic lymphocytic leukemia
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Cowden syndrome
Proteus syndrome
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Acute promyelocytic leukemia
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Anaplastic ependymoma
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Cerebellar ataxia - hypogonadism
CLN3 disease
Enchondromatosis
Fabry disease
Familial thoracic aortic aneurysm and aortic dissection
Giant cell glioblastoma
Gliosarcoma
Hereditary nonpolyposis colon cancer
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Loeys-Dietz syndrome type 1
Maffucci syndrome
Marfan syndrome type 2
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Purine nucleoside phosphorylase deficiency
Solitary fibrous tumor
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
CLN2 disease
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Fatal infantile cytochrome C oxidase deficiency
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with cardiomyopathy
Leigh syndrome with leukodystrophy
MMEP syndrome
Rare isolated myopia
Synonym(s):
- Bone marrow failure

Classification (Orphanet):
- Rare hematologic disease

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

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: unknown
External references:
3 OMIM references -
1 MeSH reference: C538494

Gene symbol UniProt reference OMIM reference
IFNG P01579147570
PRF1 P14222170280
SBDS Q9Y3A5607444
TERC 602322
TERT O14746187270
No signs/symptoms info available.