Phenotypes associated with the disease Hermansky-Pudlak syndrome 5 (OMIM:614074):
- Menorrhagia (HP:0000132): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: PCS. Frequency: 1/3. (PMID:15296495)
- Albinism (HP:0001022): An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). Evidence: TAS. Frequency: 4/4. (OMIM:614074)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/4. (PMID:15296495)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 1/4. (PMID:15296495)
- Iris transillumination defect (HP:0012805): Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. Evidence: PCS. Frequency: 4/4. (PMID:15296495)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/4. (PMID:15296495)
- Prolonged bleeding time (HP:0003010): Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. Evidence: PCS. Frequency: 1/1. (PMID:12548288)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 2/4. (PMID:15296495)
- Absent platelet dense granules (HP:0033263): Lack of platelet dense granules, a type of platelet organelles. Evidence: PCS. Frequency: 3/3. (PMID:15296495)
- Hypoplasia of the fovea (HP:0007750): Underdevelopment of the fovea centralis. Evidence: IEA. (OMIM:614074)
- Metrorrhagia (HP:0100608): Bleeding at irregular intervals. Evidence: PCS. Frequency: 1/3. (PMID:15296495)
- 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:12548288)
- Ocular albinism (HP:0001107): An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. Evidence: PCS. Frequency: 1/1. (PMID:12548288)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 4/4. (PMID:15296495)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: PCS. Frequency: 4/4. (PMID:15296495;PMID:12548288)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. Frequency: 2/4. (PMID:15296495)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 0/4. (PMID:15296495)
- Horizontal nystagmus (HP:0000666): Nystagmus consisting of horizontal to-and-fro eye movements. Evidence: IEA. (OMIM:614074)
- Impaired ADP-induced platelet aggregation (HP:0004866): Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. Evidence: PCS. Frequency: 1/1. (PMID:12548288)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/4. (PMID:15296495)