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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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:00011869.5DCT, TYR, HPS1, RAB27A, SLC35D3, LYST
2MP:00020069.2GZMA, CTSG, PRF1, TYR, TH, LYST
3MP:00053849.1PRF1, SH2D1A, TYR, HPS1, ABCA1, RAB27A
4MP:00107718.9NSMAF, GUSB, PRF1, DCT, TYR, HPS1
5MP:00053878.5STX11, UNC13D, CTSG, GZMA, NSMAF, PRF1
6MP:00053768.4SH2D1A, PRF1, STX11, GUSB, NSMAF, TYR
7MP:00053978.3LYST, NSMAF, GZMA, CTSG, UNC13D, GUSB

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
Do you know this syndrome? Chediak-Higashi syndrome. (22147054)
2011
2
Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. (22223973)
2011
3
Two novel mutations identified in an african-american child with chediak-higashi syndrome. (20368792)
2010
4
In patients with Chediak-Higashi syndrome undergoing allogeneic SCT, does adding etoposide to the conditioning regimen improve the outcome? (17637689)
2007
5
Chediak-Higashi syndrome masquerading as acute leukemia: the significance of lymphocyte inclusions. (16849771)
2006
6
Chediak-Higashi syndrome: report of a case with uncommon presentation and review literature. (16696403)
2006
7
Fludarabine and once-daily intravenous busulfan for allogeneic bone marrow transplantation for Chediak-Higashi syndrome. (14528111)
2003
8
A defect in collagen receptor-Ca2+ signaling system in platelets from cattle with Chediak-Higashi syndrome. (11858496)
2002
9
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. (11487012)
2001
10
Improvement of peripheral neuropathy with oral prednisolone in Chediak-Higashi syndrome. (10789940)
2000
11
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. (10527680)
1999
12
What's your diagnosis? Chediak-Higashi syndrome (CHS). (17337956)
1999
13
Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. (9215679)
1997
14
Clinical, morphologic, and biochemical characteristics of Chediak-Higashi syndrome in fifty-six Japanese black cattle. (9361882)
1997
15
Neutrophil elastase and cathepsin G protein and messenger RNA expression in bone marrow from a patient with Chediak-Higashi syndrome. (16695972)
1995
16
Treatment of Chediak-Higashi syndrome by allogenic bone marrow transplantation: report of 10 cases. (7756666)
1995
17
Chediak-Higashi syndrome--accelerated phase. (7875867)
1994
18
Studies of adenine nucleotide biochemistry in the Chediak-Higashi syndrome. (8384120)
1993
19
A case of Chediak Higashi syndrome. (2292561)
1990
20
Chediak-Higashi syndrome: prenatal diagnosis by fetal blood examination in the feline model of the disease. (2543222)
1989
21
Beige rat: a new animal model of Chediak-Higashi syndrome. (2752114)
1989
22
Alterations of NAD and adenylyl dinucleotide metabolism in Chediak-Higashi syndrome fibroblasts. (3148063)
1988
23
Lesions in Brangus cattle with Chediak-Higashi syndrome. (3212888)
1988
24
Fluorescent cytometric analysis of polymorphonuclear leukocytes in Chediak-Higashi syndrome: diminished C3bi receptor expression (OKM1) with normal granular cell density. (2974532)
1988
25
A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome. (3425619)
1987
26
Chediak-Higashi syndrome: studies in long-term bone marrow culture. (2982630)
1985
27
Enzyme activities involved in collagen and proteoglycan degradations in oral mucosas of beige (Chediak-Higashi syndrome) mice. (2988462)
1985
28
Microtubule organization of unstimulated and stimulated adherent human neutrophils in Chediak-Higashi syndrome. (4063526)
1985
29
The "lazy" NK cells of Chediak-Higashi syndrome. (6602174)
1983
30
Elevated antibody titers to Epstein-Barr virus and low natural killer cell activity in patients with Chediak-Higashi syndrome. (6307571)
1983
31
Chediak Higashi syndrome. (7166437)
1982
32
T gamma cells in Chediak-Higashi syndrome. (6978462)
1982
33
The Chediak-Higashi syndrome: microtubules in monocytes and lymphocytes. (546223)
1979
34
Chromosome one polymorphism in a girl with the Chediak-Higashi syndrome. (281851)
1978
35
Chediak-Higashi syndrome. (266075)
1977
36
Ultrastructural and morphometric studies of platelets from cattle with the Chediak-Higashi syndrome. (957606)
1976
37
Chediak-Higashi syndrome: reversal of increased susceptibility to infection by bone marrow transplantation. (769863)
1976
38
The Chediak-Higashi syndrome in a Negro infant. (1245973)
1976
39
Defective mononuclear leukocyte chemotaxis in the Chediak-Higashi syndrome of humans, mink, and cattle. (1092386)
1975
40
Phagocytosis in chronic granulomatous disease and the Chediak-Higashi syndrome. (5007151)
1972
41
The Chediak-Higashi syndrome: case report. (4921002)
1970
42
The Chediak-Higashi syndrome: continuous suspension cultures derived from peripheral blood. (4181890)
1969
43
Cell culture and the Chediak-Higashi syndrome. (4165463)
1967
44
Alteration of e sphingolipid content in leucocytes from patients with Chediak-Higashi syndrome. (6082159)
1967
45
The Chediak-Higashi syndrome and Aleutian mink. (5341553)
1967
46
Virus-like particles in the peripheral blood cells of two patients with Chediak Higashi syndrome. (5939059)
1966
47
Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles. (5908967)
1966
48
CHEDIAK-HIGASHI SYNDROME. CYTOLOGIC AND SERUM LIPID OBSERVATIONS IN A CASE AND FAMILY. (14142411)
1964
49
THE FAMILIAL OCCURRENCE OF THE CHEDIAK-HIGASHI SYNDROME IN MINK AND CATTLE. (14135410)
1964
50
The Chediak-Higashi syndrome. (14483147)
1962

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
10.2TH, 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

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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
  • Proteins
  • Lysates
  • Antibodies

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