CHS
MCID: CHD001
MIFTS: 75

Chediak-Higashi Syndrome (CHS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Blood diseases categories

Summaries for Chediak-Higashi Syndrome

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 platelet storage pool deficiency, and has symptoms including bruisability, polynuclear cells/neutrophils anomalies/neutropenia and furuncle/cutaneous abscess/hidrosadenitis suppurativa. 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 Dopamine metabolism. The compounds dopamine quinone and DL-Dopa have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow, and related mouse phenotypes are renal/urinary system and respiratory system.

Wikipedia:66 Ch more...

Description from OMIM:48 214500

GeneReviews summary for chediak-higashi

Aliases & Classifications for Chediak-Higashi Syndrome

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9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 32LifeMap Discovery™, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
chédiak-higashi-steinbrink syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

chediak-higashi syndrome 9 10 20 44 22 48 11 46 32 63
chediak higashi syndrome 44 21 23
chs 44 22
charcot-marie-tooth disease, x-linked recessive, 5 63
oculocutaneous albinism with leukocyte defect 22
chediak-steinbrinck-higashi syndrome 22
chédiak-higashi-steinbrink syndrome 50
chediak - steinbrinck anomaly 9
chédiak-higashi syndrome 50
chédiak-higashi disease 50


External Ids:

Disease Ontology9 DOID:2935
OMIM48 214500
NCIt41 C2941
MeSH36 D002609
MESH via Orphanet37 D002609
ICD10 via Orphanet27 E70.3
SNOMED-CT via Orphanet60 111396008
UMLS via Orphanet64 C0007965

Related Diseases for Chediak-Higashi Syndrome

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18GeneCards, 19GeneDecks
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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 90)
idRelated DiseaseScoreTop Affiliating Genes
1hermansky-pudlak syndrome31.0SLC35D3, HPS1, TYR
2platelet storage pool deficiency30.9HPS1, LYST
3albinism30.8HPS1, DCT, TYR
4hemophagocytic lymphohistiocytosis30.5UNC13D, SH2D1A, RAB27A
5oculocutaneous albinism30.5TYR, DCT, LYST, HPS1
6leukemia30.5TYR, GUSB, SH2D1A, MPO, DYT10, GZMA
7bronchitis29.9MPO, DYT10
8retinitis10.6
9attenuated chédiak-higashi syndrome10.6
10neuropathy10.5
11periodontitis10.5
12peripheral neuropathy10.5
13chronic granulomatous disease10.4
14amyloidosis10.4
15neutropenia10.4
16periodontal disease10.4
17gigantism10.4
18congenital hypothyroidism10.4
19factor xii deficiency10.3
20acute leukemia10.3
21choroiditis10.3
22acute lymphocytic leukemia10.3
23hepatitis10.3
24lysosomal storage disease10.3
25dystrophinopathies10.3
26cerebellar degeneration10.3
27chronic active epstein-barr virus infection10.3
28griscelli syndrome10.3
29severe congenital neutropenia autosomal recessive 310.3
30silvery hair syndrome10.3
31hermansky-pudlak syndrome 110.3
32hypothyroidism10.2
33vldlr-associated cerebellar hypoplasia10.2
34oculocutaneous albinism type 110.1TYR
35exfoliation syndrome10.1LYST
36atherosclerosis10.1
37thyroiditis10.1
38cerebellar hypoplasia10.1
39griscelli syndrome type 210.1UNC13D, RAB27A
40infectious mononucleosis10.1SH2D1A, GUSB
41gingivitis10.0GUSB, CTSG
42type 2 diabetes mellitus10.0ABCA1, TH, GUSB, DYT10
43cholera10.0TH, TYR, DCT, DYT10
44amelanotic melanoma10.0TYR, DCT, LAMP1
45amyloid tumor10.0CTSG, ABCA1
46gaucher's disease10.0LAMP1, GUSB
47glioblastoma multiforme10.0TYR, DCT, LAMP1, DYT10
48graves' disease10.0TYR, MPO, DCT
49ipex syndrome10.0TH, GUSB, SH2D1A, RAB27A, CTSG
50bronchiectasis10.0MPO, CTSG

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



Diseases related to chediak-higashi syndrome

Symptoms for Chediak-Higashi Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

214500

Clinical features from OMIM:

214500

Symptoms:

50 (show all 40)
  • bruisability
  • polynuclear cells/neutrophils anomalies/neutropenia
  • furuncle/cutaneous abscess/hidrosadenitis suppurativa
  • epistaxis/nose bleeding
  • early death/lethality
  • extrapyramidal syndrome
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • iris albinism/ocular albinism
  • lymphadenopathy/polyadenopathies
  • bone marrow/medullar infiltration
  • ecchymoses
  • alveolysis/paraodontitis
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • fever/chilling
  • photophobia
  • visual loss/blindness/amblyopia
  • repeat respiratory infections
  • splenomegaly
  • hepatomegaly/liver enlargement (excluding storage disease)
  • psychic/psychomotor regression/dementia/intellectual decline
  • tremor
  • nystagmus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hypertonia/spasticity/rigidity/stiffness
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • hepatitis/icterus/cholestasis
  • albinism (hair)
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • decreased hair pigmentation/hypopigmentation of hair
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • areflexia/hyporeflexia
  • thrombocytopenia/thrombopenia
  • gingivorrhagia/gingival bleeding
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • peripheral neuropathy
  • chronic skin infection/ulcerations/ulcers/cancrum
  • anaemia
  • movement disorder
  • autosomal recessive inheritance

Drugs & Therapeutics for Chediak-Higashi Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discovery™, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Chediak-Higashi Syndrome

Drug clinical trials:

Search ClinicalTrials for Chediak-Higashi Syndrome

Search NIH Clinical Center for Chediak-Higashi Syndrome

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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21GeneTests, 23GTR
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Genetic tests related to Chediak-Higashi Syndrome:

id Genetic test Affiliating Genes
1 Chediak-Higashi Syndrome21 LYST
2 Chédiak-Higashi Syndrome23

Anatomical Context for Chediak-Higashi Syndrome

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34MalaCards
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MalaCards organs/tissues related to Chediak-Higashi Syndrome:

34
Bone, Skin, Bone marrow, Liver, Eye, T cells, Cerebellum, Testes, Lung, Kidney, Brain, Spleen, B cells, Whole blood, Myeloid, Monocytes, Nk cells

Animal Models for Chediak-Higashi Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Chediak-Higashi Syndrome:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.4HPS1, LYST, GUSB, TYR, ABCA1
2MP:00053889.1ABCA1, TH, NBEA, LYST, HPS1, RAB27A
3MP:00020068.8TH, TYR, LYST, GZMA, CTSG
4MP:00053918.7TH, TYR, DCT, LYST, HPS1, RAB27A
5MP:00053848.5ABCA1, TH, TYR, GUSB, LAMP1, LYST
6MP:00011868.5TYR, DCT, LYST, HPS1, RAB27A, SLC35D3
7MP:00053868.4TH, TYR, GUSB, NBEA, LYST, STX11
8MP:00036317.6ABCA1, TH, TYR, NBEA, DCT, LAMP1
9MP:00107717.6TH, TYR, GUSB, NBEA, DCT, LAMP1
10MP:00053877.4ABCA1, TYR, UNC13D, SH2D1A, MPO, LYST
11MP:00053767.3NBEA, GUSB, TYR, TH, ABCA1, SH2D1A
12MP:00107687.1ABCA1, TH, TYR, GUSB, NBEA, MPO
13MP:00053977.0SLC35D3, ABCA1, GUSB, UNC13D, SH2D1A, MPO

Publications for Chediak-Higashi Syndrome

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53PubMed
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Articles related to Chediak-Higashi Syndrome:

(show top 50)    (show all 325)
idTitleAuthorsYear
1
Mixed hyperpigmentation and hypopigmentation of iris and choroid in Chediak-Higashi syndrome. (24160983)
2013
2
Chediak-Higashi syndrome - a report of two cases with unusual hyperpigmentation of the face. (21935875)
2011
3
Rituximab and cyclosporine therapy for accelerated phase Chediak-Higashi syndrome. (21681939)
2011
4
Clinico-hematological profile of Chediak-Higashi syndrome: experience from a tertiary care center in south India. (21934218)
2011
5
Hematopoietic cell transplantation for Chediak-Higashi syndrome. (17293882)
2007
6
Chediak-Higashi syndrome masquerading as acute leukemia: the significance of lymphocyte inclusions. (16849771)
2006
7
Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome. (15896657)
2005
8
Chediak-Higashi syndrome in the intensive care unit. (15283830)
2004
9
Chediak-Higashi syndrome with parkinsonism. (15077248)
2004
10
Dictyostelium LvsB mutants model the lysosomal defects associated with Chediak-Higashi syndrome. (11854420)
2002
11
Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. (12125812)
2002
12
Clinicopathological aspects of Chediak-Higashi syndrome in the accelerated phase. (11953777)
2002
13
Chediak-Higashi syndrome. (10985003)
2000
14
Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28. (10782205)
2000
15
Secretory lysosome biogenesis in cytotoxic T lymphocytes from normal and Chediak Higashi syndrome patients. (11208129)
2000
16
Improvement of peripheral neuropathy with oral prednisolone in Chediak-Higashi syndrome. (10789940)
2000
17
Impaired cytosolic calcium mobilization and aggregation in response to collagen in platelets from Japanese black cattle with Chediak-Higashi syndrome. (9622745)
1998
18
Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. (9215680)
1997
19
Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. (9215679)
1997
20
Chediak-Higashi syndrome natural killer cells: a protein kinase C defective activation/regulation defect? (8929738)
1996
21
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. (8896560)
1996
22
Chediak-Higashi syndrome: Report on five Saudi Arab children and review of the literature. (17590693)
1993
23
Complementation analysis of Chediak-Higashi syndrome: the same gene may be responsible for the defect in all patients and species. (8291023)
1993
24
Ultrastructural study of a murine model for Chediak Higashi syndrome. (1809795)
1991
25
Epstein-Barr virus infection in Chediak-Higashi syndrome mimicking acute lymphocytic leukemia. (2165746)
1990
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
Age-related changes of the retinal pigment epithelium of cats with Chediak-Higashi syndrome. (3700019)
1986
30
Chronic active Epstein-Barr virus infection in patients with Chediak-Higashi syndrome. (3018035)
1986
31
Protein and glycoprotein abnormalities in platelets from human Chediak-Higashi syndrome: polyacrylamide gel electrophoretic study of platelets from five patients. (4089824)
1985
32
Animal model. Light and electron microscopy of hepatocytes of cats with Chediak-Higashi syndrome. (4073119)
1985
33
Pathological findings in a young Japanese Black cattle affected with Chediak-Higashi syndrome. (6632459)
1983
34
The "lazy" NK cells of Chediak-Higashi syndrome. (6602174)
1983
35
T-cell lymphoma and the Chediak-Higashi syndrome. (6980677)
1982
36
An ultrastructural and cytochemical investigation of the development of inclusions in gastric chief cells and parietal cells of mice with the Chediak-Higashi syndrome. (6257973)
1981
37
Efficacy of ascorbic acid in Chediak-Higashi syndrome (CHS): studies in humans and mice. (216437)
1979
38
Platelet microtubules and giant granules in the Chediak-Higashi syndrome. (206143)
1978
39
Brain serotonin concentration and crude synaptosomal uptake in mice with the Chediak-Higashi syndrome. (1033485)
1976
40
Electron microscopic observations of leukocytes from an infant with Chediak-Higashi syndrome-cytochemistry and phagocytic study-. (1173716)
1975
41
Defective mononuclear leukocyte chemotaxis in the Chediak-Higashi syndrome of humans, mink, and cattle. (1092386)
1975
42
Fate of exogenous peroxidase in renal lysosomes of mice with Chediak-Higashi syndrome. (4432912)
1974
43
Granulocyte function in the Chediak-Higashi syndrome of mice. (4589319)
1974
44
The Chediak-Higashi syndrome. Fine structure of giant inclusions in freeze-fractured neutrophils. (4353973)
1973
45
Lymphoreticular tissue lesions in Steinbrinck-Chediak-Higashi syndrome. (5315166)
1971
46
Cell culture and the Chediak-Higashi syndrome. (4165463)
1967
47
Comparative studies of the Chediak-Higashi syndrome. (6057596)
1967
48
Virus-like particles in the peripheral blood cells of two patients with Chediak Higashi syndrome. (5939059)
1966
49
Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles. (5908967)
1966
50
The Chediak-Higashi syndrome. (14483147)
1962

Variations for Chediak-Higashi Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Chediak-Higashi Syndrome:

65
id Symbol AA change Variation ID SNP ID
1LYSTp.Arg1563HisVAR_013556
2LYSTp.Val1999AspVAR_013557rs28942077

Clinvar genetic disease variations for Chediak-Higashi Syndrome:

1 (show all 33)
id Gene Name Type Significance SNP ID Assembly Location
1PRPS1NM_002764.3(PRPS1): c.362C> G (p.Ala121Gly)single nucleotide variantPathogenicGRCh37Chr X, 106884187: 106884187
2LYSTNM_000081.3(LYST): c.1467delG (p.Glu489Aspfs)deletionPathogenicrs80338644GRCh37Chr 1, 235972651: 235972651
3LYSTNM_000081.3(LYST): c.3310C> T (p.Arg1104Ter)single nucleotide variantPathogenicrs80338652GRCh37Chr 1, 235969126: 235969126
4LYSTNM_000081.3(LYST): c.118dupG (p.Ala40Glyfs)duplicationPathogenicrs80338642GRCh37Chr 1, 235993599: 235993600
5LYSTNM_000081.3(LYST): c.1902dupA (p.Ala635Serfs)duplicationPathogenicrs80338646GRCh37Chr 1, 235972216: 235972216
6LYSTNM_000081.3(LYST): c.9590delA (p.Tyr3197Leufs)deletionPathogenicrs80338667GRCh37Chr 1, 235880049: 235880049
7LYSTNM_000081.3(LYST): c.148C> T (p.Arg50Ter)single nucleotide variantPathogenicrs80338643GRCh37Chr 1, 235993570: 235993570
8LYSTNM_000081.3(LYST): c.3085C> T (p.Gln1029Ter)single nucleotide variantPathogenicrs80338651GRCh37Chr 1, 235969351: 235969351
9LYSTNM_000081.3(LYST): c.2623delT (p.Tyr875Metfs)deletionPathogenicrs80338649GRCh37Chr 1, 235969813: 235969813
10LYSTNM_000081.3(LYST): c.4688G> A (p.Arg1563His)single nucleotide variantPathogenicrs80338657GRCh37Chr 1, 235952001: 235952001
11LYSTNM_000081.3(LYST): c.5996T> A (p.Val1999Asp)single nucleotide variantPathogenicrs28942077GRCh37Chr 1, 235929504: 235929504
12LYSTNM_000081.3(LYST): c.9107_9162del56 (p.Gly3036Glufs)deletionPathogenicrs80338665GRCh37Chr 1, 235891376: 235891431
13LYSTNM_000081.3(LYST): c.10127A> G (p.Asn3376Ser)single nucleotide variantPathogenicrs80338669GRCh37Chr 1, 235872407: 235872407
14LYSTNM_000081.3(LYST): c.10395delA (p.Gly3466Alafs)deletionPathogenicrs80338670GRCh37Chr 1, 235860552: 235860552
15LYSTNM_000081.3(LYST): c.1540C> T (p.Arg514Ter)single nucleotide variantPathogenicrs80338645GRCh37Chr 1, 235972578: 235972578
16LYSTNM_000081.3(LYST): c.2413delG (p.Glu805Asnfs)deletionPathogenicrs80338647GRCh37Chr 1, 235970023: 235970023
17LYSTNM_000081.3(LYST): c.2454delA (p.Ala819Hisfs)deletionPathogenicrs80338648GRCh37Chr 1, 235969982: 235969982
18LYSTNM_000081.3(LYST): c.3073_3074delAA (p.Asn1025Glnfs)deletionPathogenicrs80338650GRCh37Chr 1, 235969362: 235969363
19LYSTNM_000081.3(LYST): c.3434dupA (p.His1145Glnfs)duplicationPathogenicrs80338653GRCh37Chr 1, 235967925: 235967925
20LYSTNM_000081.3(LYST): c.4052C> G (p.Ser1351Ter)single nucleotide variantPathogenicrs80338654GRCh37Chr 1, 235956867: 235956867
21LYSTNM_000081.3(LYST): c.4274delT (p.Leu1425Tyrfs)deletionPathogenicrs80338656GRCh37Chr 1, 235955268: 235955268
22LYSTNM_000081.3(LYST): c.4361C> A (p.Ala1454Asp)single nucleotide variantPathogenicrs80338655GRCh37Chr 1, 235955181: 235955181
23LYSTNM_000081.3(LYST): c.5061T> A (p.Tyr1687Ter)single nucleotide variantPathogenicrs80338658GRCh37Chr 1, 235944318: 235944318
24LYSTNM_000081.3(LYST): c.5317delA (p.Arg1773Aspfs)deletionPathogenicrs80338659GRCh37Chr 1, 235940506: 235940506
25LYSTNM_000081.3(LYST): c.6078C> A (p.Tyr2026Ter)single nucleotide variantPathogenicrs80338660GRCh37Chr 1, 235929422: 235929422
26LYSTNM_000081.3(LYST): c.7060_7066delCTATTAG (p.Leu2354Metfs)deletionPathogenicrs80338661GRCh37Chr 1, 235918941: 235918947
27LYSTNM_000081.3(LYST): c.7555delT (p.Tyr2519Ilefs)deletionPathogenicrs80338662GRCh37Chr 1, 235915377: 235915377
28LYSTNM_000081.3(LYST): c.8428G> A (p.Glu2810Lys)single nucleotide variantPathogenicrs80338663GRCh37Chr 1, 235897890: 235897890
29LYSTNM_000081.3(LYST): c.8583G> A (p.Trp2861Ter)single nucleotide variantPathogenicrs80338664GRCh37Chr 1, 235897159: 235897159
30LYSTNM_000081.3(LYST): c.9228_9229insTTCTTTCAGT (p.Lys3077Phefs)insertionPathogenicrs80338666GRCh37Chr 1, 235887414: 235887415
31LYSTNM_000081.3(LYST): c.9893delT (p.Phe3298Serfs)deletionPathogenicrs80338668GRCh37Chr 1, 235875389: 235875389
32PRPS1NM_002764.3(PRPS1): c.129A> C (p.Glu43Asp)single nucleotide variantPathogenicrs80338731GRCh37Chr X, 106882531: 106882531
33PRPS1NM_002764.3(PRPS1): c.344T> C (p.Met115Thr)single nucleotide variantPathogenicrs80338732GRCh37Chr X, 106884169: 106884169

Expression for genes affiliated with Chediak-Higashi Syndrome

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2BioGPS, 16Gene 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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Sources:
51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 5Cell Signaling Technology
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Pathways related to Chediak-Higashi Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0TYR, TH
210.0TYR, TH
310.0RAB27A, UNC13D
410.0RAB27A, UNC13D
5
Show member pathways
Vitamin B12 Metabolism39
9.9MPO, ABCA1
69.4GUSB, LAMP1, CTSG
79.2SH2D1A, MPO, GZMA
8
Show member pathways
phenylalanine utilization39
noradrenaline and adrenaline degradation39
phenylalanine degradation IV39
9.2DCT, TYR, TH

Compounds for genes affiliated with Chediak-Higashi Syndrome

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46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank, 62Tocris Bioscience, 3BitterDB, 52PharmGKB
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Compounds related to Chediak-Higashi Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
1dopamine quinone4610.5TH, TYR
2DL-Dopa2510.4TH, TYR
3chalcone4610.4GUSB, LYST
4p-cresol4610.4TYR, GUSB
5salsolinol4610.4TH, TYR
6alpha-methyl-p-tyrosine4610.4TH, TYR
7l-dopa30 2511.4TH, TYR
8dihydrobiopterin46 2511.4TYR, TH
9L-Tyrosine25 1211.3TH, TYR
103-chlorotyrosine46 3011.3TH, MPO
115-hydroxytryptophan4610.2TH, TYR
12nomifensine46 30 1212.2MPO, TH
133-amino-1,2,4-triazole4610.2MPO, GUSB
14glycyrrhizin46 3011.2GUSB, TH
15ulinastatin4610.2GUSB, MPO
16L-Phenylalanine25 1211.1TH, MPO
17pyrithione4610.1MPO, DYT10
18fenton4610.0MPO, TH
19methionine sulfoxide46 25 1212.0CTSG, MPO, ABCA1
20cytochalasin b4610.0CTSG, MPO, GUSB
21n-formylmethionyl-leucylphenylalanine469.9GUSB, MPO, CTSG
225-hydroxytryptamine469.9TH, TYR, GUSB
23leukotriene b446 62 2511.9GUSB, MPO, CTSG
24dhica469.9TYR, DCT
25l-dopachrome46 2510.8TYR, DCT
265,6-dihydroxyindole46 2510.8TYR, DCT
27arbutin3 4610.8TYR, DCT
28dopaquinone46 2510.8TYR, DCT
29eumelanin469.8TYR, DCT
30hocl469.8CTSG, MPO
31paraffin469.6CTSG, MPO, TYR, TH
32genistein46 30 62 3 25 1214.6DYT10, GUSB, TYR, ABCA1
33formaldehyde46 2510.6TH, TYR, MPO, LAMP1
34fmlp469.5CTSG, DYT10, MPO, GUSB
35aspartate469.5CTSG, GUSB, TYR, TH
36lactate469.4CTSG, MPO, GUSB, TH
37levodopa46 1210.4TH, TYR, DCT, HPS1
38dopachrome469.4LAMP1, DCT, TYR
39glutamate469.4ABCA1, TH, TYR, GUSB, DYT10
40histamine46 30 2511.3TH, GUSB, MPO, DYT10, CTSG
41mannose 6-phosphate46 2510.2GUSB, LAMP1, GZMA, CTSG
42h2o2469.2TH, TYR, MPO, DYT10, CTSG
43ibmx46 62 3011.2TH, TYR, DCT, DYT10
44forskolin46 52 1211.0ABCA1, TH, DCT, DYT10
45superoxide46 259.8GUSB, MPO, GZMA, CTSG
46oxygen46 259.4ABCA1, TH, TYR, MPO, DCT, GZMA
47retinoic acid46 259.3ABCA1, TH, TYR, MPO, DCT, DYT10
48serine467.9ABCA1, TYR, MPO, DYT10, GZMA, CTSG
49calcium46 52 25 1210.8ABCA1, GUSB, SH2D1A, MPO, LAMP1, DYT10
50tyrosine467.5ABCA1, TH, TYR, SH2D1A, DCT, LAMP1

GO Terms for genes affiliated with Chediak-Higashi Syndrome

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Sources:
17Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1exocytic vesicleGO:0703829.7RAB27A, UNC13D
2late endosomeGO:0057709.5RAB27A, LAMP1, UNC13D
3melanosome membraneGO:0331629.2DCT, TYR, TH
4lysosomeGO:0057648.7RAB27A, TYR, UNC13D, MPO, LAMP1, HPS1
5melanosomeGO:0424708.6TYR, DCT, LAMP1, RAB27A

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1secretion of lysosomal enzymesGO:03329910.3HPS1, LYST
2cytotoxic T cell degranulationGO:04331610.3STX11, RAB27A
3positive regulation of natural killer cell activationGO:03281610.3HPS1, LYST
4phospholipid homeostasisGO:05509110.2LYST, ABCA1
5positive regulation of exocytosisGO:04592110.2UNC13D, RAB27A
6lysosome organizationGO:00704010.1HPS1, LYST, ABCA1
7natural killer cell degranulationGO:04332010.0RAB27A, STX11, UNC13D
8pigmentationGO:04347310.0LYST, TH
9negative regulation of growth of symbiont in hostGO:0441309.9CTSG, MPO
10defense response to fungusGO:0508329.8MPO, CTSG
11visual perceptionGO:0076019.8HPS1, TYR, TH
12positive regulation of natural killer cell mediated cytotoxicityGO:0459549.8LAMP1, SH2D1A
13melanocyte differentiationGO:0303189.7RAB27A, HPS1
14response to lipopolysaccharideGO:0324969.7CTSG, MPO, TH
15melanin biosynthetic process from tyrosineGO:0065839.7TYR, DCT

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.8GZMA, TH, TYR, UNC13D, SH2D1A, LAMP1

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet