CHS
MCID: CHD001
MIFTS: 66

Chediak-Higashi Syndrome (CHS) malady

Neuronal, Eye, Skin, Metabolic, Blood categories

Summaries for Chediak-Higashi Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 autosomal recessive inheritance, seizures/epilepsy/absences/spasms/status epilepticus and intellectual deficit/mental/psychomotor retardation/learning disability. 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 skin, liver and brain, 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 unable to fight off invaders such as viruses and bacteria effectively. 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, and few people with this condition live to adulthood.

Wikipedia:64 Chédiak–Higashi syndrome is a rare autosomal recessive disorder that arises from a mutation of a... more...

Description from OMIM:47 214500

GeneReviews summary for chediak-higashi

Aliases & Classifications for Chediak-Higashi Syndrome

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 31LifeMap Discovery™, 61UMLS, 20GeneTests, 22GTR, 49Orphanet, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye, Skin, Metabolic, Blood


Characteristics (Orphanet epidemiological data):

49
chédiak-higashi syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

chediak-higashi syndrome 8 9 19 43 21 47 10 45 31 61
chediak higashi syndrome 43 20 22
chs 43 21
charcot-marie-tooth disease, x-linked recessive, 5 61
oculocutaneous albinism with leukocyte defect 21
chediak-steinbrinck-higashi syndrome 21
chediak - steinbrinck anomaly 8
rosenberg-chutorian syndrome 19
chédiak-higashi syndrome 49
cmtx5 19


External Ids:

Disease Ontology8 DOID:2935
MeSH35 D002609
NCIt40 C2941
OMIM47 214500
MESH via Orphanet36 D002609
ICD10 via Orphanet26 E70.3
SNOMED-CT via Orphanet58 111396008
UMLS via Orphanet62 C0007965

Related Diseases for Chediak-Higashi Syndrome

Sources:
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 91)
idRelated DiseaseScoreTop Affiliating Genes
1hermansky-pudlak syndrome30.8SLC35D3, HPS1, TYR
2albinism30.6DCT, TYR, HPS1
3oculocutaneous albinism30.4DCT, TYR, HPS1, LYST
4hemophagocytic lymphohistiocytosis30.4RAB27A, SH2D1A, PRF1, UNC13D
5hydrops fetalis29.9GUSB
6n syndrome11.1
7micro syndrome10.9
8char syndrome10.7
9young syndrome10.6
10serotonin syndrome10.6
11attenuated chédiak-higashi syndrome10.6
12prps1-related charcot-marie-tooth neuropathy x type 510.5
13charcot-marie-tooth disease, axonal, type 2q10.5
14platelet storage pool deficiency10.5
15chronic granulomatous disease10.4
16acute leukemia10.4
17amyloidosis10.4
18bod syndrome10.4
19gigantism10.4
20congenital hypothyroidism10.3
21sensorineural hearing loss10.3
22albinism immunodeficiency10.3
23charcot-marie-tooth neuropathy x type 510.3
24protein s deficiency10.3
25adult syndrome10.3
26protein c deficiency10.3
27acute lymphocytic leukemia10.3
28dent's disease10.3
293-m syndrome10.3
30severe congenital neutropenia autosomal recessive 310.3
31chronic active epstein-barr virus infection10.3
32cerebellar degeneration10.3
33cousin syndrome10.3
34griscelli syndrome10.3
35kid syndrome10.3
36neutrophil-specific granule deficiency10.3
37silvery hair syndrome10.3
38mast syndrome10.3
39amyloidosis, secondary10.3
40x-linked charcot-marie-tooth disease type 510.2
41vldlr-associated cerebellar hypoplasia10.2
42atherosclerosis10.1
43cerebellar hypoplasia10.1
44neonatal hypothyroidism10.1
45cherubism10.0
46charcot-marie-tooth neuropathy, x-linked dominant, 110.0
47charcot-marie-tooth disease, x-linked recessive, 510.0
48hypertriglyceridemia10.0ABCA1
49oculocutaneous albinism type 110.0TYR
50arthritis10.0CTSG, GUSB

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



Diseases related to chediak-higashi syndrome

Clinical Features for Chediak-Higashi Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

214500

Clinical synopsis from OMIM:

214500

Symptoms:

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

Drugs & Therapeutics for Chediak-Higashi Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-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

Sources:
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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Chediak-Higashi Syndrome:

33
Skin, Liver, Brain, Kidney, Lung, Spleen, Bone marrow, Whole blood, Myeloid, Monocytes, Nk cells, T cells, B cells, Fetal brain, Fetal liver, Fetal lung

Animal Models for Chediak-Higashi Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Chediak-Higashi Syndrome

Sources:
51PubMed
See all sources

Articles related to Chediak-Higashi Syndrome:

(show top 50)    (show all 328)
idTitleAuthorsYear
1
Accelerated phase of Chediak-Higashi syndrome. (22329017)
2012
2
Chediak-Higashi syndrome - a report of two cases with unusual hyperpigmentation of the face. (21935875)
2011
3
Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome. (21209802)
2010
4
Identification of proteins in the ceroid-like autofluorescent aggregates from liver lysosomes of Beige, a mouse model for human Chediak-Higashi syndrome. (20061169)
2010
5
Effect of a thiol proteinase inhibitor, E-64-d, on susceptibility to infection with Staphylococcus aureus in Chediak-Higashi syndrome (beige) mice. (17499200)
2007
6
Chediak-Higashi syndrome with parkinsonism. (15077248)
2004
7
Hyperpigmentation in Chediak-Higashi syndrome. (14576641)
2003
8
Chediak-Higashi syndrome: four cases from Northern Finland. (14599068)
2003
9
Dictyostelium LvsB mutants model the lysosomal defects associated with Chediak-Higashi syndrome. (11854420)
2002
10
Platelet dysfunction in Chediak-Higashi syndrome-affected cattle. (12399597)
2002
11
Chediak-Higashi syndrome--a case report. (11218692)
2000
12
Cytolytic mechanisms involved in non-MHC-restricted cytotoxicity in Chediak-Higashi syndrome. (10540167)
1999
13
Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. (10193444)
1999
14
Dystrophinopathy in a boy with Chediak-Higashi syndrome. (9829279)
1998
15
Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. (9215680)
1997
16
The Beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein. (9368050)
1997
17
Chediak-Higashi syndrome in rats: light and electron microscopical characterization of abnormal granules in beige rats. (8056871)
1994
18
Lysosomal enzyme activities in Chediak-Higashi syndrome: evaluation of lymphoblastoid cell lines and review of the literature. (8032365)
1994
19
Chediak-Higashi syndrome in a black child. (1574473)
1992
20
Prenatal diagnosis of Chediak-Higashi syndrome. (1494540)
1992
21
Prenatal diagnosis of Chediak-Higashi syndrome in the cat by evaluation of cultured chorionic cells. (1951435)
1991
22
Epstein-Barr virus infection in Chediak-Higashi syndrome mimicking acute lymphocytic leukemia. (2165746)
1990
23
Primary and secondary lysosomes in megakaryocytes and platelets from cattle with the Chediak-Higashi syndrome. (2274921)
1990
24
Thiol proteinase inhibitors reverse the increased protein kinase C down-regulation and concanavalin A cap formation in polymorphonuclear leukocytes from Chediak-Higashi syndrome (beige) mouse. (2230592)
1990
25
Platelet aggregation and ATP secretion in whole blood of normal cats and cats homozygous and heterozygous for Chediak-Higashi syndrome. (2620102)
1989
26
Impaired natural defence of beige (Chediak-Higashi syndrome) mice against tissue-migrating larvae of Strongyloides ratti and its reconstitution by bone marrow cells. (3287281)
1988
27
Acyclovir in accelerated phase of Chediak-Higashi syndrome. (2880031)
1987
28
Deficiency of inducible suppressor cell activity in the Chediak-Higashi syndrome. (2443005)
1987
29
Relationship of the genes for Chediak-Higashi syndrome (beige) and the T-cell receptor gamma chain in mouse and man. (2895730)
1987
30
Chediak-Higashi syndrome: immunological responses to Epstein-Barr virus studies in gene heterozygotes. (3013924)
1986
31
Secondary amyloidosis in a bull with Chediak-Higashi syndrome. (6713250)
1984
32
Effect of muramyl dipeptide analog on Salmonella enteritidis infection in beige mice with Chediak-Higashi syndrome. (6097802)
1984
33
Effect of ascorbate on abnormal neutrophil, platelet and lymphocytic function in a patient with the Chediak-Higashi syndrome. (6260267)
1981
34
Evaluation of the platelet storage pool deficiency in the feline counterpart of the Chediak-Higashi syndrome. (7315839)
1981
35
Cyclic nucleotides and the Chediak-Higashi syndrome. (6250351)
1980
36
Cytochemistry of type II pneumocytes in Chediak-Higashi syndrome of mice. (7379982)
1980
37
Chediak-Higashi syndrome: variable cytochemical reactivity of giant inclusions in polymorphonuclear leukocytes. (6262968)
1980
38
Biochemical studies on the leukocytes in Chediak-Higashi syndrome. (199018)
1977
39
Granulocyte function in the Chediak-Higashi syndrome of mice. (4589319)
1974
40
A platelet serotonin anomaly in the Chediak-Higashi syndrome. (4818380)
1974
41
The Chediak-Higashi syndrome: studies of host defenses. (4550589)
1972
42
The Chediak-Higashi-Steinbrinck syndrome. Presentation of three cases with features resembling spinocerebellar degeneration. (5156632)
1971
43
Pigmentary changes in Chediak-Higashi syndrome. Microscopic study of 12 homozygous and heterozygous subjects. (4108195)
1971
44
Chediak-Higashi syndrome. (5822052)
1969
45
The Chediak-Higashi syndrome. (5672914)
1968
46
Neutrophilic function in animals with the Chediak-Higashi syndrome. (5339467)
1967
47
The Chediak-Higashi syndrome: formation of giant melanosomes and the basis of hypopigmentation. (6075990)
1967
48
Histopathology of eyes in Chediak-Higashi syndrome. (5900510)
1966
49
Chediak-Higashi syndrome. Observations on the nature of the associated malignancy. (5957288)
1966
50
CHEDIAK-HIGASHI SYNDROME. (14229594)
1965

Genetic Variations for Chediak-Higashi Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Chediak-Higashi Syndrome:

63
id Symbol AA change Variation SNP ID
1LYSTp.Arg1563HisVAR_013556
2LYSTp.Val1999AspVAR_013557rs28942077

Expression for genes affiliated with Chediak-Higashi Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 54Reactome, 52QIAGEN, 30KEGG
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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
10.2TH, TYR
210.1UNC13D, RAB27A
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

Sources:
45Novoseek, 29IUPHAR, 24HMDB, 2BitterDB, 11DrugBank, 60Tocris Bioscience, 50PharmGKB
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Compounds related to Chediak-Higashi Syndrome according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1dopamine quinone4510.6TYR, TH
2p-cresol4510.5GUSB, TYR
3salsolinol4510.5TYR, TH
4alpha-methyl-p-tyrosine4510.5TYR, TH
5chalcone4510.5GUSB, LYST
6l-dopa29 2411.5TYR, TH
7hemolysins4510.5CTSG, PRF1
8dhica4510.4DCT, TYR
9l-dopachrome45 2411.4DCT, TYR
105,6-dihydroxyindole45 2411.4DCT, TYR
11dihydrobiopterin45 2411.4TH, TYR
12arbutin2 4511.4DCT, TYR
13dopaquinone45 2411.4DCT, TYR
14L-Tyrosine11 2411.4TYR, TH
15eumelanin4510.4DCT, TYR
16dopachrome4510.4TYR, DCT
17methionine sulfoxide45 11 2412.3CTSG, ABCA1
185-hydroxytryptophan4510.3TH, TYR
19glycyrrhizin45 2911.2TH, GUSB
20levodopa45 1111.2TH, HPS1, TYR, DCT
21ibmx45 29 6012.1TH, TYR, DCT, DYT10
22mannose 6-phosphate45 2411.0GZMA, CTSG, GUSB
23histamine45 29 2411.9TH, GUSB, CTSG, DYT10
24cycloheximide459.9DYT10, CTSG, PRF1, TYR, ABCA1
25genistein45 29 60 2 11 2414.8ABCA1, TYR, GUSB, DYT10
26retinoic acid45 2410.6DYT10, CTSG, DCT, TYR, ABCA1, TH
27forskolin45 50 1111.4DYT10, DCT, ABCA1, TH
28tyrosine459.1GZMA, DYT10, DCT, SH2D1A, TYR, ABCA1

GO Terms for genes affiliated with Chediak-Higashi Syndrome

Sources:
16Gene Ontology
See all sources

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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  • Lysates
  • Antibodies

Sources for Chediak-Higashi Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet