CHS
MCID: CHD001
MIFTS: 74

Chediak-Higashi Syndrome (CHS) malady

Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases, Blood diseases categories

Summaries for Chediak-Higashi Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Chediak-higashi syndrome is a genetic syndrome that affects the immune system, as well as other parts of the body. signs and symptoms include a weakened immune system, repeated and persistent infections beginning in infancy and childhood, oculocutaneous albinism, blood clotting problems, and nervous system abnormalities (e.g., weakness, difficulty walking, and seizures). complications from this syndrome can become life-threatening. it is caused by mutations in the lyst gene and is inherited in an autosomal recessive fashion. last updated: 11/7/2011

MalaCards: Chediak-Higashi Syndrome, also known as chediak higashi syndrome, is related to hermansky-pudlak syndrome and albinism, and has symptoms including lymphoma, pigmented naevi/naevus pigmentosus/lentigo and atrial septal defect/interauricular communication. An important gene associated with Chediak-Higashi Syndrome is LYST (lysosomal trafficking regulator), and among its related pathways are Tyrosine metabolism p.1 (dopamine) and Deregulation of Rab and Rab Effector Genes in Bladder Cancer. The compounds dopamine quinone and p-cresol have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and eye, and related mouse phenotypes are pigmentation and tumorigenesis.

Genetics Home Reference:21 Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. These infections tend to be very serious or life-threatening.

Wikipedia:63 Chédiak–Higashi syndrome is a rare autosomal recessive disorder that arises from a mutation of a... more...

Description from OMIM:46 214500

GeneReviews summary for chediak-higashi

Aliases & Classifications for Chediak-Higashi Syndrome

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
chédiak-higashi-steinbrink syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

chediak-higashi syndrome 8 9 19 42 21 46 10 44 30 60
chediak higashi syndrome 42 20 22
chs 42 21
charcot-marie-tooth disease, x-linked recessive, 5 60
oculocutaneous albinism with leukocyte defect 21
chediak-steinbrinck-higashi syndrome 21
chédiak-higashi-steinbrink syndrome 48
chediak - steinbrinck anomaly 8
chédiak-higashi syndrome 48
chédiak-higashi disease 48


External Ids:

Disease Ontology8 DOID:2935
MeSH34 D002609
NCIt39 C2941
OMIM46 214500
MESH via Orphanet35 D002609
ICD10 via Orphanet26 E70.3
SNOMED-CT via Orphanet57 111396008
UMLS via Orphanet61 C0007965

Related Diseases for Chediak-Higashi Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Chediak-Higashi Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1hermansky-pudlak syndrome30.8HPS1, TYR, SLC35D3
2albinism30.6HPS1, TYR, DCT
3oculocutaneous albinism30.3DCT, HPS1, LYST, TYR
4hemophagocytic lymphohistiocytosis30.3RAB27A, PRF1, UNC13D, SH2D1A
5charcot-marie-tooth disease, x-linked recessive, 510.7
6down syndrome10.6
7retinitis10.6
8attenuated chédiak-higashi syndrome10.5
9cherubism10.5
10charcot-marie-tooth neuropathy x type 510.5
11x-linked charcot-marie-tooth disease type 510.5
12prps1-related charcot-marie-tooth neuropathy x type 510.5
13charcot-marie-tooth disease, axonal, type 2q10.5
14platelet storage pool deficiency10.5
15neuropathy10.5
16periodontitis10.5
17peripheral neuropathy10.5
18chronic granulomatous disease10.4
19acute leukemia10.4
20acute lymphocytic leukemia10.4
21amyloidosis10.4
22leukemia10.4
23neutropenia10.4
24periodontal disease10.4
25congenital hypothyroidism10.3
26albinism immunodeficiency10.3
27silvery hair syndrome10.3
28choroiditis10.3
29factor xii deficiency10.3
30mhc class ii deficiency10.3
31adult syndrome10.3
32hepatitis10.3
33lysosomal storage disease10.3
34dystrophinopathies10.3
35severe congenital neutropenia autosomal recessive 310.3
36hypothyroidism10.2
37vldlr-associated cerebellar hypoplasia10.2
38atherosclerosis10.1
39thyroiditis10.1
40cerebellar hypoplasia10.1
41hydrops fetalis10.0GUSB
42hypertriglyceridemia10.0ABCA1
43oculocutaneous albinism type 110.0TYR
44arthritis10.0CTSG, GUSB
45griscelli syndrome type 210.0UNC13D, RAB27A
46piebaldism10.0RAB27A
47microphthalmia10.0DCT, TYR
48vasculitis10.0CTSG, SH2D1A
49infectious mononucleosis10.0SH2D1A, GUSB
50amelanotic melanoma10.0DCT, TYR

Graphical network of the top 20 diseases related to Chediak-Higashi Syndrome:



Diseases related to chediak-higashi syndrome

Clinical Features for Chediak-Higashi Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

214500

Clinical synopsis from OMIM:

214500

Symptoms:

48 (show all 30)
  • lymphoma
  • pigmented naevi/naevus pigmentosus/lentigo
  • atrial septal defect/interauricular communication
  • ataxia/incoordination/trouble of the equilibrium
  • psychic/psychomotor regression/dementia/intellectual decline
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • ecchymoses
  • splenomegaly
  • hepatomegaly/liver enlargement (excluding storage disease)
  • storage liver disease
  • albinism (hair)
  • decreased hair pigmentation/hypopigmentation of hair
  • furuncle/cutaneous abscess/hidrosadenitis suppurativa
  • nystagmus
  • photophobia
  • iris albinism/ocular albinism
  • repeat respiratory infections
  • lymphadenopathy/polyadenopathies
  • cutaneous edema
  • autosomal recessive inheritance
  • sarcoma
  • thrombocytopenia/thrombopenia
  • platelet disorders/thrombopathies
  • polynuclear cells/neutrophils anomalies/neutropenia
  • anaemia
  • red cell disorders
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • anomalies of eyes and vision

Drugs & Therapeutics for Chediak-Higashi Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Chediak-Higashi Syndrome

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Chediak-Higashi Syndrome cell therapies at LifeMap Discovery.

Genetic Tests for Chediak-Higashi Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Chediak-Higashi Syndrome:

id Genetic test Affiliating Genes
1 Chediak-Higashi Syndrome20 LYST
2 Chédiak-Higashi Syndrome22

Anatomical Context for Chediak-Higashi Syndrome

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32MalaCards
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MalaCards organs/tissues related to Chediak-Higashi Syndrome:

32
Bone, Bone marrow, Eye, Liver, Skin, T cells, Testes, Lung, Spleen, Whole blood, B cells, Kidney, Brain, Myeloid, Monocytes, Nk cells

Animal Models for Chediak-Higashi Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Chediak-Higashi Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5TYR, DCT, LYST, RAB27A, SLC35D3, HPS1
2MP:00020069.2CTSG, PRF1, TYR, TH, LYST, GZMA
3MP:00053849.1ABCA1, LYST, SH2D1A, TYR, HPS1, TH
4MP:00107718.9HPS1, RAB27A, TH, DCT, PRF1, NSMAF
5MP:00053878.5GZMA, NSMAF, STX11, CTSG, UNC13D, ABCA1
6MP:00053768.4HPS1, LYST, SLC35D3, TH, RAB27A, ABCA1
7MP:00053978.3NSMAF, SLC35D3, RAB27A, ABCA1, HPS1, SH2D1A

Publications for Chediak-Higashi Syndrome

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50PubMed
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Articles related to Chediak-Higashi Syndrome:

(show top 50)    (show all 328)
idTitleAuthorsYear
1
A new method for rapid detection of the mutant allele for Chediak-Higashi syndrome in Japanese black cattle. (23615171)
2013
2
Chediak-Higashi syndrome presenting in accelerated phase. (22868026)
2012
3
A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome. (21488161)
2011
4
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1. (20503323)
2010
5
Lung pathology of pale ear mouse (model of Hermansky-Pudlak syndrome 1) and beige mouse (model of Chediak-Higashi syndrome): severity of giant lamellar body degeneration of type II pneumocytes correlates with interstitial inflammation. (15743322)
2005
6
Herpesvirus saimiri-transformed CD8+ T cells as a tool to study Chediak-Higashi syndrome cytolytic lymphocytes. (15728247)
2005
7
Chediak-Higashi syndrome: a case report. (16190108)
2004
8
Hyperpigmentation in Chediak-Higashi syndrome. (14576641)
2003
9
Split chimerism after allogeneic bone marrow transplantation in Chediak-Higashi syndrome. (12621497)
2003
10
Dictyostelium LvsB mutants model the lysosomal defects associated with Chediak-Higashi syndrome. (11854420)
2002
11
Clinicopathological aspects of Chediak-Higashi syndrome in the accelerated phase. (11953777)
2002
12
Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. (11857544)
2002
13
Cardiac failure in an infant with Chediak-Higashi syndrome: a hypothesis of the effect of diadenosine polyphosphates. (12390449)
2002
14
Chediak-Higashi syndrome. (10985003)
2000
15
Analysis of the lysosomal storage disease Chediak-Higashi syndrome. (11208072)
2000
16
Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. (9215680)
1997
17
Na,K-ATPase activity in red blood cells from patients with Chediak-Higashi syndrome. (8612721)
1995
18
Chediak-Higashi syndrome. (7781095)
1995
19
Chediak-Higashi syndrome: Report on five Saudi Arab children and review of the literature. (17590693)
1993
20
Complementation analysis of Chediak-Higashi syndrome: the same gene may be responsible for the defect in all patients and species. (8291023)
1993
21
Delayed phagocytosis and bacterial killing in Chediak-Higashi syndrome neutrophils detected by a fluorochrome assay. Ultrastructural aspects. (1343673)
1992
22
Neutrophil function in normal and Chediak-Higashi syndrome cats following administration of recombinant canine granulocyte colony-stimulating factor. (1385198)
1992
23
Epstein-Barr virus infection in Chediak-Higashi syndrome mimicking acute lymphocytic leukemia. (2165746)
1990
24
Identification of dense granule specific membrane proteins in bovine platelets that are absent in the Chediak-Higashi syndrome. (2270540)
1990
25
Chediak-Higashi syndrome. (2638683)
1989
26
The thiol proteinase inhibitors improve the abnormal rapid down-regulation of protein kinase C and the impaired natural killer cell activity in (Chediak-Higashi syndrome) beige mouse. (2541700)
1989
27
A case of Chediak-Higashi syndrome. (3148396)
1988
28
Evaluation of hepatic and renal function in cats with chediak-higashi syndrome. (15221700)
1987
29
Interspecific genetic complementation analysis with fibroblasts from humans and four species of animals with Chediak-Higashi syndrome. (3322007)
1987
30
Age-related changes of the retinal pigment epithelium of cats with Chediak-Higashi syndrome. (3700019)
1986
31
Chediak-Higashi syndrome in an Indonesian infant. (4080405)
1985
32
Beneficial effects of high-dose intravenous gammaglobulin on the accelerated phase of Chediak-Higashi syndrome. (3843247)
1985
33
Abnormal retinal projections in cats with the Chediak-Higashi syndrome. (7141822)
1982
34
Crinophagic inclusions in gastric chief cells of mice with Chediak-Higashi syndrome. (6288443)
1982
35
Effect of ascorbate on abnormal neutrophil, platelet and lymphocytic function in a patient with the Chediak-Higashi syndrome. (6260267)
1981
36
Impaired bone resorption of cultured calvaria from mice with abnormal lysosomal function (the Chediak-Higashi syndrome). (6965269)
1981
37
Lysosome enlargement in the Chediak-Higashi syndrome. (7215561)
1981
38
A new glucose-6-phosphate dehydrogenase deficient variant in a patient with Chediak-Higashi syndrome. (7407414)
1980
39
Cytochemistry of type II pneumocytes in Chediak-Higashi syndrome of mice. (7379982)
1980
40
The cytoskeleton in Chediak-Higashi syndrome fibroblasts. (7426748)
1980
41
The Chediak-Higashi syndrome: quantitation of a deficiency in maximal bactericidal capacity. (106731)
1979
42
Partial oculocutaneous albinism in Mystromys albicaudatus: nonhomology with the Chediak-Higashi syndrome. (439847)
1979
43
Abnormal platelet function in Chediak-Higashi syndrome. (194620)
1977
44
The Chediak-Higashi syndrome of cats. (865082)
1977
45
Platelet function in the Chediak-Higashi syndrome. (1276475)
1976
46
Decreased nucleotide and serotonin storage associated with defective function in Chediak-Higashi syndrome cattle and human platelets. (949545)
1976
47
The Chediak-Higashi syndrome. Fine structure of giant inclusions in freeze-fractured neutrophils. (4353973)
1973
48
Defective granulocyte regulation in the Chediak-Higashi syndrome. (5681251)
1968
49
Histopathology of eyes in Chediak-Higashi syndrome. (5900510)
1966
50
Chediak-Higashi syndrome. Observations on the nature of the associated malignancy. (5957288)
1966

Genetic Variations for Chediak-Higashi Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Chediak-Higashi Syndrome:

62
id Symbol AA change Variation ID SNP ID
1LYSTp.Arg1563HisVAR_013556
2LYSTp.Val1999AspVAR_013557rs28942077

Expression for genes affiliated with Chediak-Higashi Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chediak-Higashi Syndrome

Search GEO for disease gene expression data for Chediak-Higashi Syndrome.

Pathways for genes affiliated with Chediak-Higashi Syndrome

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12EMD Millipore, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 29KEGG
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Pathways related to Chediak-Higashi Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Tyrosine metabolism p.1 (dopamine)
Hide members
10.2TYR, TH
210.1RAB27A, UNC13D
3
wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)
10.1RAB27A, UNC13D
4
Hide members
10.0PRF1, GZMA
5
Hide members
9.9TH, TYR, DCT

Compounds for genes affiliated with Chediak-Higashi Syndrome

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44Novoseek, 28IUPHAR, 24HMDB, 2BitterDB, 11DrugBank, 59Tocris Bioscience, 49PharmGKB
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Compounds related to Chediak-Higashi Syndrome according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1dopamine quinone4410.6TYR, TH
2p-cresol4410.5GUSB, TYR
3salsolinol4410.5TYR, TH
4alpha-methyl-p-tyrosine4410.5TYR, TH
5chalcone4410.5GUSB, LYST
6l-dopa28 2411.5TYR, TH
7hemolysins4410.5CTSG, PRF1
8dhica4410.4DCT, TYR
9l-dopachrome44 2411.4DCT, TYR
105,6-dihydroxyindole44 2411.4DCT, TYR
11dihydrobiopterin44 2411.4TH, TYR
12arbutin2 4411.4DCT, TYR
13dopaquinone44 2411.4DCT, TYR
14L-Tyrosine11 2411.4TYR, TH
15eumelanin4410.4DCT, TYR
16dopachrome4410.4TYR, DCT
17methionine sulfoxide44 11 2412.3CTSG, ABCA1
185-hydroxytryptophan4410.3TH, TYR
19glycyrrhizin44 2811.2TH, GUSB
20levodopa44 1111.2TH, HPS1, TYR, DCT
21ibmx44 28 5912.1TH, TYR, DCT, DYT10
22mannose 6-phosphate44 2411.0GZMA, CTSG, GUSB
23histamine44 28 2411.9TH, GUSB, CTSG, DYT10
24cycloheximide449.9DYT10, CTSG, PRF1, TYR, ABCA1
25genistein44 28 59 2 11 2414.8ABCA1, TYR, GUSB, DYT10
26retinoic acid44 2410.6DYT10, CTSG, DCT, TYR, ABCA1, TH
27forskolin44 49 1111.4DYT10, DCT, ABCA1, TH
28tyrosine449.1GZMA, DYT10, DCT, SH2D1A, TYR, ABCA1

GO Terms for genes affiliated with Chediak-Higashi Syndrome

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16Gene Ontology
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Cellular components related to Chediak-Higashi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanosomeGO:04247010.0RAB27A, TYR, DCT
2melanosome membraneGO:0331629.9TH, TYR, DCT
3exocytic vesicleGO:0703829.8RAB27A, UNC13D
4lysosomeGO:0057649.7UNC13D, TYR, HPS1, RAB27A

Biological processes related to Chediak-Higashi Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1secretion of lysosomal enzymesGO:03329910.3LYST, HPS1
2natural killer cell degranulationGO:04332010.3UNC13D, RAB27A
3melanin biosynthetic process from tyrosineGO:00658310.3TYR, DCT
4positive regulation of natural killer cell activationGO:03281610.3HPS1, LYST
5lysosome organizationGO:00704010.2LYST, ABCA1, HPS1
6pigmentationGO:04347310.2LYST, TH
7phospholipid homeostasisGO:05509110.2LYST, ABCA1
8positive regulation of exocytosisGO:04592110.0RAB27A, UNC13D
9cytolysisGO:0198359.7PRF1, GZMA

Molecular functions related to Chediak-Higashi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055158.2LYST, GZMA, UNC13D, STX11, PRF1, SH2D1A

Products for genes affiliated with Chediak-Higashi Syndrome

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  • Antibodies
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  • Lysates
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Sources for Chediak-Higashi Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet