- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: IEA. (OMIM:106100)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: IEA. (OMIM:106100)
- Peripheral axonal neuropathy (HP:0003477): An abnormality characterized by disruption of the normal functioning of peripheral axons. Evidence: IEA. Frequency: 1/1. (OMIM:106100)
- Hypoesthesia (HP:0033748): Decreased ability to perceive touch. Evidence: PCS. Frequency: 1/1. (PMID:17502473)
- Intestinal edema (HP:0005225): Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds. Evidence: IEA. (OMIM:106100)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: IEA. (OMIM:106100)
- Reduced circulating CH50 activity (HP:0025434): A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum. Evidence: PCS. Frequency: 1/1. (PMID:17502473)
- Pharyngeal edema (HP:0011855): Abnormal accumulation of fluid leading to swelling of the pharynx. Evidence: TAS. (OMIM:106100)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: IEA. (OMIM:106100)
- Decreased circulating C1-esterase inhibitor concentration (HP:0034204): Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation. Evidence: TAS. (OMIM:106100)
- Decreased circulating complement C4 concentration (HP:0045042): Concentration of the complement component C4 in the blood circulation below the lower limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:17502473;PMID:16813612)
- Laryngeal edema (HP:0012027): An abnormal accumulation of fluid and swelling in the tissues of the larynx. Evidence: PCS. Frequency: 1/2. (PMID:16813612)
- Angioedema (HP:0100665): Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis. Evidence: IEA. (OMIM:106100)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/2. (PMID:16813612)
- Periorbital edema (HP:0100539): Edema affecting the region situated around the orbit of the eye. Evidence: PCS. Frequency: 2/2. (PMID:16813612)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:17502473)
- Axonal degeneration (HP:0040078). Evidence: PCS. Frequency: 1/1. (PMID:17502473)
- 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: IEA. (OMIM:106100)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 1/1. (PMID:17502473)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: IEA. (OMIM:106100)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:3587308)
These phenotypes are associated with the disease hereditary angioedema with C1Inh deficiency (OMIM:106100).