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Gräsbeck-Imerslund disease
1 OMIM reference -
2 associated genes
20 connected diseases
No signs/symptoms info
Disease Type of connection
Congenital intrinsic factor deficiency
Donnai-Barrow syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Distal myopathy with posterior leg and anterior hand involvement
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Microcephaly-capillary malformation syndrome
Muscle filaminopathy
Primary peritoneal carcinoma
Spondylocarpotarsal synostosis
Congenital analbuminemia
Congenital atransferrinemia
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Synonym(s):
- Familial megaloblastic anemia
- Selective cobalamin malabsorption with proteinuria
Classification (Orphanet):
- Inborn errors of metabolism
- Rare gastroenterologic disease
- Rare genetic disease
- Rare hematologic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
AMN Q9BXJ7605799
CUBN O60494602997
No signs/symptoms info available.