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Congenital intrinsic factor deficiency
2 OMIM references -
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Gräsbeck-Imerslund disease
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Synonym(s):
- Congenital pernicious anemia
- Gastric intrinsic factor deficiency
- Hereditary juvenile meganoblastic anemia due to intrinsic factor deficiency
- IFD
- Intrinsic factor deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- 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 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
GIF P27352609342
No signs/symptoms info available.