Phenotypes associated with the disease Imerslund-Grasbeck syndrome type 1 (OMIM:261100):
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: IEA. (OMIM:261100)
- Decreased circulating vitamin B12 concentration (HP:0100502): The concentration of vitamin B12 in the blood circulation is below the lower limit of normal. Evidence: PCS. (PMID:17285242)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: IEA. (OMIM:261100)
- Malabsorption of Vitamin B12 (HP:0200118). Evidence: PCS. (PMID:17285242)
- Abnormal circulating folate concentration (HP:0040087): Any deviation from the normal concentration of folate in the blood circulation. Evidence: PCS. Frequency: 0/1. (PMID:21208123)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: TAS. (OMIM:261100)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: IEA. (OMIM:261100)
- Microscopic hematuria (HP:0002907): Microscopic hematuria detected by dipstick or microscopic examination of the urine. Evidence: PCS. Frequency: 1/1. (PMID:21208123)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: IEA. (OMIM:261100)
- Megaloblastic anemia (HP:0001889): Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). Evidence: PCS. Frequency: 1/1. (PMID:21208123)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:10080186)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: 1/1. (PMID:21208123)