AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesPublication CharacteristicsGeographicals
Albinism, OculocutaneousAlbinismMonophenol MonooxygenaseHermanski-Pudlak SyndromeEye ColorAlbinism, OcularHypopigmentationSkin PigmentationMelanosomesMelanocytesMembrane Transport ProteinsSyndromeElectronystagmographyPigmentationCatechol OxidaseChediak-Higashi SyndromeHair ColorPuerto RicoPlatelet Storage Pool DeficiencyMelaninsMutationPedigreeOxidoreductasesNystagmus, PathologicFrameshift MutationDNA Mutational AnalysisPhenotypePolymorphism, Single-Stranded ConformationalHomozygoteMembrane ProteinsExonsHeterozygoteMembrane GlycoproteinsCarrier ProteinsPolycystic Kidney, Autosomal RecessiveAlkaptonuriaHomogentisic AcidCystinosisResearch Support, N.I.H., IntramuralErdheim-Chester DiseaseOchronosis
Characterized by partial oculocutaneous albinismOcularLYSTTypes of albinismDefectRufous oculocutaneous albinismHypopigmentationGeneDefectsPigmentationHermansky-Pudlak S214500Autosomal recessive disorderPyogenic infectionsImmunodeficiencyLysosomal disorderMelanosomesForm of albinismNystagmusInheritanceInfectionsMutationsCongenitalAbnormalOCA1RetinalAffectsPerson with albCauses albinismForms of albinismTypeOCA2Peripheral neuropathyMilderClinicalDeficienciesPatientsGenesSkinComplications
Characterized by partial oculocutaneous albinism2
  • Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism, immunodeficiency, and a mild bleeding tendency. (nih.gov)
  • Chediak-Higashi syndrome - Patients are characterized by partial oculocutaneous albinism, bleeding disorder from platelet dysfunction, chronic neutropenia, and defective cell cytotoxicity. (immunodeficiencysearch.com)
Ocular8
  • There are two principal types of albinism: oculocutaneous, affecting the eyes, skin and hair, and ocular affecting the eyes only. (wikipedia.org)
  • According to the National Organization for Albinism and Hypopigmentation, "With ocular albinism, the color of the iris of the eye may vary from blue to green or even brown, and sometimes darkens with age. (wikipedia.org)
  • For this reason, the reduction or absence of this pigment in people with albinism may lead to: Misrouting of the retinogeniculate projections, resulting in abnormal decussation (crossing) of optic nerve fibres Photophobia and decreased visual acuity due to light scattering within the eye (ocular straylight) Photophobia is specifically when light enters the eye, unrestricted - with full force. (wikipedia.org)
  • Other types of albinism include Ocular Albinism type 1, Waardenberg syndrome, Chediak-Higashi syndrome, Tuberous sclerosis and Hermansky-Pudlak Syndrome or HPS. (home-remedies-for-you.com)
  • Further, we incorporate GPR143 that has been implicated in ocular albinism (OA1), characterised by a phenotype limited to the eye. (herseninstituut.nl)
  • Finally, we include the SLC38A8-associated disorder FHONDA that causes an even more restricted "albinism-related" ocular phenotype with foveal hypoplasia and chiasmal misrouting but without pigmentation defects. (herseninstituut.nl)
  • We propose the following retinal pigmentation pathway, with increasingly specific genetic and cellular defects causing an increasingly specific ocular phenotype: (HPS1-11/CHS: syndromic forms of albinism)-(OCA1-8: OCA)-(GPR143: OA1)-(SLC38A8: FHONDA). (herseninstituut.nl)
  • Neurodevelopmental Profile in Children Affected by Ocular Albinism. (cdc.gov)
LYST2
  • Chediak-Higashi syndrome is caused by mutations in the LYST gene. (medlineplus.gov)
  • The Chédiak-Higashi syndrome gene was characterized in 1996 as the LYST or CHS1 gene and is localized to bands 1q42-43. (medscape.com)
Types of albinism1
  • Given below is a table which will give you an in-depth analysis of the causes of the different types of albinism. (healthhearty.com)
Defect3
  • OCA can be further categorized into Type 1 albinism and Type 2 albinism depending on the type of genetic defect causing the condition. (home-remedies-for-you.com)
  • Chédiakâ€"Higashi syndrome is a rare autosomal recessive disorder that arises from a microtubule polymerization defect which leads to a decrease in phagocytosis. (intelligentdental.com)
  • Albinism is a defect of melanin production that results in little or no color (pigment) in the skin, hair and eyes. (medwebplus.com)
Rufous oculocutaneous albinism1
Hypopigmentation5
Gene9
  • Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans. (wikipedia.org)
  • There are different types of oculocutaneous albinism depending on which gene has undergone mutation. (wikipedia.org)
  • Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive congenital immunodeficiency caused by mutations in CHS1 , a gene encoding a putative lysosomal trafficking protein. (biomedcentral.com)
  • Griscelli syndrome type II - GS type II is caused by mutations in the gene RAB27A. (immunodeficiencysearch.com)
  • Albinism occurs when one of several gene mutations makes the body unable to produce or distribute melanin. (medwebplus.com)
  • Recently, basic researchers in the section identified NBEAL2 as the gray platelet syndrome (GPS) gene. (nih.gov)
  • Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. (utsouthwestern.edu)
  • Considered to be the most common type of albinism, it is caused due to the abnormal mutation of the P-protein (also called the OCA2 gene ) found in the melanosomal membrane in chromosome 15. (healthhearty.com)
  • Just one altered gene is enough to cause this type of albinism. (healthhearty.com)
Defects4
  • Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. (wikipedia.org)
  • Associated features include abnormalities in melanocytes (albinism), nerve defects, bleeding disorders. (intelligentdental.com)
  • Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism. (cdc.gov)
  • In young adults, a combination of these defects with oculocutaneous albinism or recurrent infections should bring CHS into consideration. (medscape.com)
Pigmentation6
Hermansky-Pudlak S3
  • Hermansky-Pudlak syndrome II - HPS type II is characterized by oculocutaneous albinism, bleeding disorder due to platelet dysfunction, and chronic neutropenia. (immunodeficiencysearch.com)
  • Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease. (cdc.gov)
  • Hermansky-Pudlak syndrome (HPS) is characterized by tyrosinase-positive oculocutaneous albinism, significant reduction in visual acuity often complicated by nystagmus, and bleeding diathesis resulting in bruising and sporadic and prolonged bleeding (Hermansky and Pudlak. (preventiongenetics.com)
2145001
Autosomal recessive disorder3
  • ORPHA167) is a rare autosomal recessive disorder characterized by variable degrees of oculocutaneous albinism, recurrent pyogenic infections, a tendency for mild bleeding, and late neurologic dysfunction. (biomedcentral.com)
  • INTRODUCTION: Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterised by partial oculocutaneous albinism, a bleeding diathesis, immunological dysfunction and neurological impairment. (bvsalud.org)
  • Chédiak-Higashi syndrome (CHS) is a rare childhood autosomal recessive disorder that affects multiple systems of the body. (medscape.com)
Pyogenic infections2
  • A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. (musc.edu)
  • The decrease in phagocytosis results in recurrent pyogenic infections, partial albinism and peripheral neuropathy. (intelligentdental.com)
Immunodeficiency3
  • Neuromascular abnormality presenting with ataxia(ataxia-telangiectasia) , flaccid paralysis after live poliovirus immunization (combined or antibody deficiencies) ,pernicious anaemia (CVID), cognitive impairment, nystagmus and cerebellar, spinal and peripheral neuropathies(Chediac-Higashi syndrome), seizures, ataxia and occulomotor and reflex abnormalities(Griscelli syndrome) are examples of neurologic features seen in different immunodeficiency syndromes. (ac.ir)
  • The aim of this study is to review the neurological manifestations of different primary immunodeficiency syndromes. (ac.ir)
  • Chédiak-Higashi syndrome (CHS) is an autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. (medscape.com)
Lysosomal disorder1
  • Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism (OCA), bleeding diathesis, and progressive neurologic deterioration. (medscape.com)
Melanosomes1
Form of albinism2
Nystagmus2
  • Eye conditions common in albinism include: Nystagmus, irregular rapid movement of the eyes back and forth, or in circular motion. (wikipedia.org)
  • Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism. (cdc.gov)
Inheritance1
  • Oculocutaneous albinism is generally the result of the biological inheritance of genetically recessive alleles (genes) passed from both parents of an individual such as OCA1 and OCA2. (wikipedia.org)
Infections2
  • As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. (medlineplus.gov)
  • The syndromes associated with albinism, such as Chediak-Higashi and Hermansky-Pudlak, are associated with more severe, systemic findings such as blood problems and increased risk of lung infections. (medwebplus.com)
Mutations2
  • There are other genetic mutations which are proven to be associated with albinism. (wikipedia.org)
  • Basically, the root cause of albinism is mutations of various genes present in chromosomes in an individual's body. (healthhearty.com)
Congenital2
  • Albinism is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and eyes. (wikipedia.org)
  • Albinism can best be defined as a congenital disorder, which affects the pigment production in the skin, hair and eyes due to the absence of enzymes that help produce melanin. (healthhearty.com)
Abnormal1
  • Researchers believe that abnormal lysosome-like structures inside blood cells called platelets underlie the abnormal bruising and bleeding seen in people with Chediak-Higashi syndrome. (medlineplus.gov)
OCA11
  • We put forward that specific melanosome impairments cause different forms of oculocutaneous albinism (OCA1-8). (herseninstituut.nl)
Retinal1
  • Combining our data with those of the literature, we propose a single functional genetic retinal signalling pathway that includes all 22 currently known human albinism disease genes. (herseninstituut.nl)
Affects4
Person with alb1
Causes albinism1
Forms of albinism1
  • All forms of albinism are present at birth with the exception of some syndromes that can occur several years after birth. (medwebplus.com)
Type3
  • Non-invasive prenatal detection of ocutaneous albinism type I based on cfDNA barcode-enabled single-molecule test]. (cdc.gov)
  • Known to affect only males, this type of albinism is inherited when the disorder is located on the X chromosome. (healthhearty.com)
  • Mutation in any one of the following genes will result in this type of albinism. (healthhearty.com)
OCA22
  • Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants. (cdc.gov)
  • A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus. (cdc.gov)
Peripheral neuropathy1
Milder2
  • A small percentage of people with Chediak-Higashi syndrome have a milder form of the condition that appears later in life. (medlineplus.gov)
  • Most patients who do not undergo bone marrow transplantation die of a lymphoproliferative syndrome, although some patients with CHS have a relatively milder clinical course of the disease. (medscape.com)
Clinical1
  • In other words, the BASIC DESCRIPTIVE WEBINARS precede "TOPOGRAPHIC" WEBINARS and PRACTICUMS stressing combinations of informative visual clinical signs, signals, syndromes, etc. (medword.net)
Deficiencies1
  • In rare cases such as Chédiak-Higashi syndrome, albinism may be associated with deficiencies in the transportation of melanin granules. (wikipedia.org)
Patients5
  • Nijmegen breakage syndrome - Patients can develop café au lait spots as well as vitiligo. (immunodeficiencysearch.com)
  • The most common complication of oculocutaneous albinism is skin cancer, therefore patients with the disease should be screened frequently. (medwebplus.com)
  • Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism. (cdc.gov)
  • Molecular genetic characterization of Congolese patients with oculocutaneous albinism. (cdc.gov)
  • Chédiak, a Cuban hematologist, reported another case in 1952, and, in 1954, Higashi, a Japanese pediatrician, described a series of cases characterized by misdistribution of myeloperoxidase in the neutrophilic granules of affected patients. (medscape.com)
Genes2
  • Single-nucleotide polymorphisms responsible for pseudo-albinism and hypermelanosis in Japanese flounder (Paralichthys olivaceus) and reveal two genes related to malpigmentation. (cdc.gov)
  • The main cause of albinism is a mutation occurring in one of the many genes, which provide the chemically coded instructions for making several proteins involved in the production of melanin. (healthhearty.com)
Skin5
  • Unlike humans, other animals have multiple pigments and for these, albinism is considered to be a hereditary condition characterised by the absence of melanin in particular, in the eyes, skin, hair, scales, feathers or cuticle. (wikipedia.org)
  • Because individuals with albinism have skin that entirely lacks the dark pigment melanin, which helps protect the skin from the sun's ultraviolet radiation, their skin can burn more easily from overexposure. (wikipedia.org)
  • Those with albinism are generally as healthy as the rest of the population (but see related disorders below), with growth and development occurring as normal, and albinism by itself does not cause mortality, although the lack of pigment blocking ultraviolet radiation increases the risk of melanomas (skin cancers) and other problems. (wikipedia.org)
  • Albinism is a pigment disorder affecting eye, skin and/or hair. (herseninstituut.nl)
  • Both pheomelanin and eumelanin are found in human skin and hair , but eumelanin is the most abundant melanin in humans, as well as the form most likely to be deficient in albinism . (wikidoc.org)
Complications1