Phenotypes associated with the disease Hermansky-Pudlak syndrome 6 (OMIM:614075):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/4. (PMID:19843503)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: PCS. Frequency: 1/4. (PMID:19843503)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 1/4. (PMID:19843503)
- 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:19843503)
- Single umbilical artery (HP:0001195): Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. Evidence: PCS. Frequency: 1/4. (PMID:19843503)
- 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: 3/4. (PMID:19843503)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: PCS. Frequency: 1/2. (PMID:33878481)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: PCS. Frequency: 1/4. (PMID:19843503)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/4. (PMID:19843503)
- 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: 3/3. (PMID:19843503)
- Ecchymosis (HP:0031364): A purpuric lesion that is larger than 1 cm in diameter. Evidence: PCS. Frequency: 2/2. (PMID:33878481)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 3/6. (PMID:19843503;PMID:33878481)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 2/2. (PMID:33878481)
- Ocular albinism (HP:0001107): An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. Evidence: PCS. (PMID:19843503)
- Partial albinism (HP:0007443): Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs. Evidence: PCS. Frequency: 1/4. (PMID:19843503)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 4/4. (PMID:19843503)
- 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: 4/6. (PMID:19843503;PMID:33878481)
- Macular hypoplasia (HP:0001104): Underdevelopment of the macula lutea. Evidence: IEA. (OMIM:614075)
- Neurogenic bladder (HP:0000011): A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. Evidence: PCS. Frequency: 1/4. (PMID:19843503)
- Albinism (HP:0001022): An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). Evidence: PCS. Frequency: 3/3. (PMID:19843503)
- Endometriosis (HP:0030127): The growth of endometrial tissue outside the uterus. Evidence: PCS. Frequency: 1/4. (PMID:19843503)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: PCS. Frequency: 1/4. (PMID:19843503)
- Rotary nystagmus (HP:0001583): A form of nystagmus in which the eyeball makes rotary motions around the axis. Evidence: PCS. Frequency: 1/4. (PMID:19843503)
- Perineal fistula (HP:0004871): The presence of a fistula between the bowel and the perineum. Evidence: PCS. Frequency: 1/4. (PMID:19843503)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 1/4. (PMID:19843503)
- Absent foveal reflex (HP:0030825): Absent reflectivity of the fovea, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. Evidence: PCS. Frequency: 1/4. (PMID:19843503)
- Impaired arachidonic acid-induced platelet aggregation (HP:0011870): Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid. Evidence: PCS. Frequency: 1/1. (PMID:19843503)
- Absent platelet dense granules (HP:0033263): Lack of platelet dense granules, a type of platelet organelles. Evidence: PCS. Frequency: 3/4. (PMID:19843503)
- Bowel incontinence (HP:0002607): Involuntary fecal soiling in adults and children who have usually already been toilet trained. Evidence: PCS. Frequency: 1/4. (PMID:19843503)
- Impaired collagen-induced platelet aggregation (HP:0008320): Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. Evidence: PCS. Frequency: 1/1. (PMID:19843503)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: PCS. Frequency: 2/2. (PMID:33878481)
- 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:614075)
- Recurrent upper respiratory tract infections (HP:0002788): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: PCS. Frequency: 1/4. (PMID:19843503)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. Frequency: 2/4. (PMID:19843503)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: PCS. Frequency: 0/2. (PMID:19843503)
- Horizontal nystagmus (HP:0000666): Nystagmus consisting of horizontal to-and-fro eye movements. Evidence: PCS. Frequency: 2/4. (PMID:19843503)
- 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:19843503)