Phenotypes associated with the disease Chediak-Higashi syndrome (OMIM:214500):
- Cranial nerve paralysis (HP:0006824). Evidence: IEA. (OMIM:214500)
- Hypopigmentation of hair (HP:0005599). Evidence: PCS. Frequency: 8/8. (PMID:28183707;PMID:10349196)
- 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. (PMID:23049325)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:214500)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: PCS. Frequency: 1/1. (PMID:28183707)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 2/4. (PMID:23049325)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 14/19. (PMID:26944273;PMID:10349196)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: PCS. (PMID:20301751)
- Giant melanosomes in melanocytes (HP:0005592): The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes. Evidence: IEA. (OMIM:214500)
- Giant neutrophil granules (HP:0032499): The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation. Evidence: PCS. Frequency: 11/11. (PMID:28183707;PMID:6243205)
- Neurodegeneration (HP:0002180): Progressive loss of neural cells and tissue. Evidence: PCS. (PMID:20301751)
- Impaired neutrophil bactericidal activity (HP:0011993): A reduction in the ability of neutrophils to kill bacteria. Evidence: PCS. (PMID:20301751)
- Hemophagocytosis (HP:0012156): Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. Evidence: PCS. (PMID:29939658)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. (PMID:20301751)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 6/7. (PMID:10349196)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 11/11. (PMID:29939658;PMID:28183707)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 4/9. (PMID:26944273)
- Foot dorsiflexor weakness (HP:0009027): Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. Evidence: IEA. (OMIM:214500)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: IEA. (OMIM:214500)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. (PMID:29939658)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 2/9. (PMID:26944273)
- Ocular albinism (HP:0001107): An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. Evidence: PCS. Frequency: 8/9. (PMID:26944273)
- Silver-gray hair (HP:0002218): Hypopigmented hair that appears silver-gray. Evidence: PCS. Frequency: 4/4. (PMID:23049325)
- 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. (PMID:29939658)
- Macular hypoplasia (HP:0001104): Underdevelopment of the macula lutea. Evidence: IEA. (OMIM:214500)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: IEA. (OMIM:214500)
- Recurrent systemic pyogenic infections (HP:0005429): Increased susceptibility to systemic pyogenic infections as manifested by recurrent episodes of systemic pyogenic infections. Evidence: PCS. (PMID:29939658)
- Recurrent bacterial skin infections (HP:0005406): Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. Evidence: PCS. Frequency: 3/4. (PMID:23049325)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. (PMID:20301751)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: IEA. (OMIM:214500)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 2/4. (PMID:23049325)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/9. (PMID:26944273)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: IEA. (OMIM:214500)
- Gingivitis (HP:0000230): Inflammation of the gingiva. Evidence: IEA. (OMIM:214500)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: IEA. (OMIM:214500)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: IEA. (OMIM:214500)
- Abnormal dense granules (HP:0012484): Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin. Evidence: PCS. (PMID:20301751)
- Periodontitis (HP:0000704): Inflammation of the periodontium. Evidence: PCS. (PMID:29939658)
- Progressive peripheral neuropathy (HP:0007133). Evidence: PCS. (PMID:29939658)
- 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:9215680)
- Iris hypopigmentation (HP:0007730): An abnormal reduction in the amount of pigmentation of the iris. Evidence: IEA. (OMIM:214500)
- Spontaneous, recurrent epistaxis (HP:0004406). Evidence: PCS. (PMID:29939658)
- Decreased nerve conduction velocity (HP:0000762): A reduction in the speed at which electrical signals propagate along the axon of a neuron. Evidence: IEA. (OMIM:214500)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. (PMID:29939658)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: PCS. (PMID:20301751)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. (PMID:20301751)