Phenotypes associated with the disease angiokeratoma corporis diffusum with arteriovenous fistulas (OMIM:600419):
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. (OMIM:600419)
- Arteriovenous fistula (HP:0004947): An abnormal connection between an artery and vein. Evidence: TAS. (OMIM:600419)
- Hemihypertrophy (HP:0001528): Overgrowth of only one side of the body. Evidence: TAS. (OMIM:600419)
- Angiokeratoma corporis diffusum (HP:0001071): Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation. Evidence: IEA. (OMIM:600419)
- 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: IEA. (OMIM:600419)