Phenotypes associated with the disease ectodermal dysplasia and immunodeficiency 2 (OMIM:612132):
- Recurrent infection of the gastrointestinal tract (HP:0004798): Recurrent infection of the gastrointestinal tract. Evidence: IEA. (OMIM:612132)
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: IEA. (OMIM:612132)
- Heat intolerance (HP:0002046): The inability to maintain a comfortable body temperature in warm or hot weather. Evidence: TAS. (OMIM:612132)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:14523047)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:14523047)
- Aplasia of the sweat glands (HP:0011136): Absence of the sweat glands. Evidence: TAS. (OMIM:612132)
- Defective production of NFKB1-dependent cytokines (HP:0011114): An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha. Evidence: IEA. (OMIM:612132)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: IEA. (OMIM:612132)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. (PMID:14523047)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. Frequency: 1/1. (PMID:14523047)
- Concave nasal ridge (HP:0011120): Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. Evidence: TAS. (OMIM:612132)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: IEA. (OMIM:612132)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 1/1. (PMID:14523047)
- Anhidrotic ectodermal dysplasia (HP:0007476). Evidence: PCS. Frequency: 1/1. (PMID:14523047)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: IEA. (OMIM:612132)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:612132)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 1/1. (PMID:14523047)
- 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:14523047)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:14523047)
- Conical tooth (HP:0000698): An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. Evidence: PCS. Frequency: 1/1. (PMID:14523047)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:14523047)