CHS
MCID: CHD001
MIFTS: 76

Chediak-Higashi Syndrome (CHS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases, Blood diseases categories
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Summaries for Chediak-Higashi Syndrome

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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 based summary: Chediak-Higashi Syndrome, also known as chediak higashi syndrome, is related to platelet storage pool deficiency and hermansky-pudlak syndrome, and has symptoms including iris albinism/ocular albinism, alveolysis/paraodontitis and chronic skin infection/ulcerations/ulcers/cancrum. 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 neutrophil, and related mouse phenotypes are renal/urinary system and respiratory system.

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:65 Ch more...

Description from OMIM:46 214500

GeneReviews summary for chediak-higashi

Aliases & Classifications for Chediak-Higashi Syndrome

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Chediak-Higashi Syndrome, Aliases & Descriptions:

Name: Chediak-Higashi Syndrome 30 8 9 19 42 21 46 10 44 62
Chediak Higashi Syndrome 42 20 22
Chs 8 42 21
Oculocutaneous Albinism with Leukocyte Defect 21 62
Chediak-Steinbrinck-Higashi Syndrome 21 62
 
Ch├ędiak-Higashi-Steinbrink Syndrome 48
Chediak - Steinbrinck Anomaly 8
Ch├ędiak-Higashi Syndrome 48
Ch├ędiak-Higashi Disease 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
ch├ędiak-higashi-steinbrink syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

Disease Ontology8 DOID:2935
NCIt39 C2941
OMIM46 214500
MeSH34 D002609
MESH via Orphanet35 D002609
ICD10 via Orphanet26 E70.3
UMLS via Orphanet63 C0007965

Related Diseases for Chediak-Higashi Syndrome

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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
1platelet storage pool deficiency31.3LYST, HPS1
2hermansky-pudlak syndrome31.2SLC35D3, TYR, HPS1
3albinism31.1HPS1, DCT, TYR
4hemophagocytic lymphohistiocytosis30.8UNC13D, SH2D1A, RAB27A
5oculocutaneous albinism30.7LYST, TYR, HPS1, DCT
6bronchitis30.1DYT10, MPO
7leukemia29.9TYR, SH2D1A, MPO, DYT10, GUSB, GZMA
8retinitis10.6
9attenuated ch├ędiak-higashi syndrome10.6
10neuropathy10.5
11periodontitis10.5
12peripheral neuropathy10.5
13oculocutaneous albinism type 110.5TYR
14chronic granulomatous disease10.5
15neutropenia10.5
16amyloidosis10.5
17periodontal disease10.5
18gigantism10.5
19exfoliation syndrome10.4LYST
20congenital hypothyroidism10.4
21griscelli syndrome type 210.3RAB27A, UNC13D
22infectious mononucleosis10.3GUSB, SH2D1A
23acute leukemia10.3
24acute lymphocytic leukemia10.3
25hepatitis10.3
26lysosomal storage disease10.3
27factor xii deficiency10.3
28choroiditis10.3
29dystrophinopathies10.3
30cerebellar degeneration10.3
31chronic active epstein-barr virus infection10.3
32griscelli syndrome10.3
33severe congenital neutropenia autosomal recessive 310.3
34silvery hair syndrome10.3
35hermansky-pudlak syndrome 110.3
36hypothyroidism10.3
37vldlr-associated cerebellar hypoplasia10.3
38gingivitis10.2CTSG, GUSB
39type 2 diabetes mellitus10.2TH, DYT10, GUSB, ABCA1
40cholera10.2DCT, TH, TYR, DYT10
41amelanotic melanoma10.2TYR, LAMP1, DCT
42amyloid tumor10.2ABCA1, CTSG
43atherosclerosis10.1
44thyroiditis10.1
45cerebellar hypoplasia10.1
46dysequilibrium syndrome10.1
47gaucher's disease10.0LAMP1, GUSB
48glioblastoma10.0TYR, DYT10, LAMP1, DCT
49graves' disease10.0DCT, MPO, TYR
50ipex syndrome10.0CTSG, TH, RAB27A, SH2D1A, GUSB

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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Symptoms by clinical synopsis from OMIM:

214500

Clinical features from OMIM:

214500

Symptoms:

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

HPO human phenotypes related to Chediak-Higashi Syndrome:

(show all 62)
id Description Frequency HPO Source Accession
1 gingival bleeding hallmark (90%) HP:0000225
2 periodontitis hallmark (90%) HP:0000704
3 bruising susceptibility hallmark (90%) HP:0000978
4 ocular albinism hallmark (90%) HP:0001107
5 reduced tendon reflexes hallmark (90%) HP:0001315
6 splenomegaly hallmark (90%) HP:0001744
7 thrombocytopenia hallmark (90%) HP:0001873
8 abnormality of neutrophils hallmark (90%) HP:0001874
9 anemia hallmark (90%) HP:0001903
10 recurrent respiratory infections hallmark (90%) HP:0002205
11 hepatomegaly hallmark (90%) HP:0002240
12 lymphadenopathy hallmark (90%) HP:0002716
13 paresthesia hallmark (90%) HP:0003401
14 abnormality of temperature regulation hallmark (90%) HP:0004370
15 hypopigmentation of hair hallmark (90%) HP:0005599
16 generalized hypopigmentation hallmark (90%) HP:0007513
17 cognitive impairment hallmark (90%) HP:0100543
18 recurrent cutaneous abscess formation hallmark (90%) HP:0100838
19 skin ulcer hallmark (90%) HP:0200042
20 epistaxis typical (50%) HP:0000421
21 visual impairment typical (50%) HP:0000505
22 photophobia typical (50%) HP:0000613
23 nystagmus typical (50%) HP:0000639
24 bruising susceptibility typical (50%) HP:0000978
25 tremor typical (50%) HP:0001337
26 hypertonia occasional (7.5%) HP:0001276
27 abnormality of extrapyramidal motor function occasional (7.5%) HP:0002071
28 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
29 developmental regression occasional (7.5%) HP:0002376
30 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
31 generalized hyperpigmentation occasional (7.5%) HP:0007440
32 autosomal recessive inheritance HP:0000007
33 gingivitis HP:0000230
34 strabismus HP:0000486
35 visual impairment HP:0000505
36 photophobia HP:0000613
37 nystagmus HP:0000639
38 decreased nerve conduction velocity HP:0000762
39 jaundice HP:0000952
40 hypopigmentation of the skin HP:0001010
41 macular hypoplasia HP:0001104
42 intellectual disability HP:0001249
43 seizures HP:0001250
44 hyporeflexia HP:0001265
45 gait disturbance HP:0001288
46 muscle weakness HP:0001324
47 tremor HP:0001337
48 splenomegaly HP:0001744
49 thrombocytopenia HP:0001873
50 leukopenia HP:0001882
51 anemia HP:0001903
52 neurodegeneration HP:0002180
53 hepatomegaly HP:0002240
54 lymphadenopathy HP:0002716
55 recurrent bacterial skin infections HP:0005406
56 recurrent systemic pyogenic infections HP:0005429
57 giant melanosomes in melanocytes HP:0005592
58 hypopigmentation of hair HP:0005599
59 cranial nerve paralysis HP:0006824
60 progressive peripheral neuropathy HP:0007133
61 iris hypopigmentation HP:0007730
62 foot dorsiflexor weakness HP:0009027

Drugs & Therapeutics for Chediak-Higashi Syndrome

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Drug clinical trials:

Search ClinicalTrials for Chediak-Higashi Syndrome

Search NIH Clinical Center 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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Genetic tests related to Chediak-Higashi Syndrome:

id Genetic test Affiliating Genes
1 Chediak-Higashi Syndrome20 LYST
2 Ch├ędiak-Higashi Syndrome22

Anatomical Context for Chediak-Higashi Syndrome

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MalaCards organs/tissues related to Chediak-Higashi Syndrome:

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

Animal Models for Chediak-Higashi Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Chediak-Higashi Syndrome:

36 (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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Articles related to Chediak-Higashi Syndrome:

(show top 50)    (show all 331)
idTitleAuthorsYear
1
Mixed hyperpigmentation and hypopigmentation of iris and choroid in Chediak-Higashi syndrome. (24160983)
2013
2
Chediak-Higashi syndrome and premature exfoliation of primary teeth. (24474367)
2013
3
Chediak-Higashi syndrome - a report of two cases with unusual hyperpigmentation of the face. (21935875)
2011
4
Rituximab and cyclosporine therapy for accelerated phase Chediak-Higashi syndrome. (21681939)
2011
5
Clinico-hematological profile of Chediak-Higashi syndrome: experience from a tertiary care center in south India. (21934218)
2011
6
Hematopoietic cell transplantation for Chediak-Higashi syndrome. (17293882)
2007
7
Chediak-Higashi syndrome masquerading as acute leukemia: the significance of lymphocyte inclusions. (16849771)
2006
8
Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome. (15896657)
2005
9
Chediak-Higashi syndrome in the intensive care unit. (15283830)
2004
10
Chediak-Higashi syndrome with parkinsonism. (15077248)
2004
11
Dictyostelium LvsB mutants model the lysosomal defects associated with Chediak-Higashi syndrome. (11854420)
2002
12
Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. (12125812)
2002
13
Clinicopathological aspects of Chediak-Higashi syndrome in the accelerated phase. (11953777)
2002
14
Chediak-Higashi syndrome. (10985003)
2000
15
Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28. (10782205)
2000
16
Secretory lysosome biogenesis in cytotoxic T lymphocytes from normal and Chediak Higashi syndrome patients. (11208129)
2000
17
Improvement of peripheral neuropathy with oral prednisolone in Chediak-Higashi syndrome. (10789940)
2000
18
Impaired cytosolic calcium mobilization and aggregation in response to collagen in platelets from Japanese black cattle with Chediak-Higashi syndrome. (9622745)
1998
19
Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. (9215680)
1997
20
Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. (9215679)
1997
21
Chediak-Higashi syndrome natural killer cells: a protein kinase C defective activation/regulation defect? (8929738)
1996
22
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. (8896560)
1996
23
Chediak-Higashi syndrome: Report on five Saudi Arab children and review of the literature. (17590693)
1993
24
Complementation analysis of Chediak-Higashi syndrome: the same gene may be responsible for the defect in all patients and species. (8291023)
1993
25
Ultrastructural study of a murine model for Chediak Higashi syndrome. (1809795)
1991
26
Epstein-Barr virus infection in Chediak-Higashi syndrome mimicking acute lymphocytic leukemia. (2165746)
1990
27
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
28
Acyclovir in accelerated phase of Chediak-Higashi syndrome. (2880031)
1987
29
Deficiency of inducible suppressor cell activity in the Chediak-Higashi syndrome. (2443005)
1987
30
Age-related changes of the retinal pigment epithelium of cats with Chediak-Higashi syndrome. (3700019)
1986
31
Chronic active Epstein-Barr virus infection in patients with Chediak-Higashi syndrome. (3018035)
1986
32
Protein and glycoprotein abnormalities in platelets from human Chediak-Higashi syndrome: polyacrylamide gel electrophoretic study of platelets from five patients. (4089824)
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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UniProtKB/Swiss-Prot genetic disease variations for Chediak-Higashi Syndrome:

64
id Symbol AA change Variation ID SNP ID
1LYSTp.Arg1563HisVAR_013556
2LYSTp.Val1999AspVAR_013557rs28942077
3LYSTp.Phe1397ValVAR_071512

Clinvar genetic disease variations for Chediak-Higashi Syndrome:

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

Expression for genes affiliated with Chediak-Higashi Syndrome

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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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Pathways related to Chediak-Higashi Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0TYR, TH
210.0TYR, TH
310.0UNC13D, RAB27A
410.0RAB27A, UNC13D
5
Show member pathways
Vitamin B12 Metabolism37
9.9ABCA1, MPO
69.4GUSB, LAMP1, CTSG
79.2MPO, GZMA, SH2D1A
8
Show member pathways
phenylalanine utilization37
noradrenaline and adrenaline degradation37
phenylalanine degradation IV37
9.2TYR, TH, DCT

Compounds for genes affiliated with Chediak-Higashi Syndrome

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Compounds related to Chediak-Higashi Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
1dopamine quinone4410.5TH, TYR
2DL-Dopa2410.4TH, TYR
3chalcone4410.4GUSB, LYST
4p-cresol4410.4TYR, GUSB
5salsolinol4410.4TH, TYR
6alpha-methyl-p-tyrosine4410.4TH, TYR
7l-dopa28 2411.4TH, TYR
8dihydrobiopterin44 2411.4TYR, TH
9L-Tyrosine24 1111.3TH, TYR
103-chlorotyrosine44 2811.3TH, MPO
115-hydroxytryptophan4410.2TH, TYR
12nomifensine44 28 1112.2MPO, TH
133-amino-1,2,4-triazole4410.2MPO, GUSB
14glycyrrhizin44 2811.2GUSB, TH
15ulinastatin4410.2GUSB, MPO
16L-Phenylalanine24 1111.1TH, MPO
17pyrithione4410.1MPO, DYT10
18fenton4410.0MPO, TH
19methionine sulfoxide44 24 1112.0CTSG, MPO, ABCA1
20cytochalasin b4410.0CTSG, MPO, GUSB
21n-formylmethionyl-leucylphenylalanine449.9GUSB, MPO, CTSG
225-hydroxytryptamine449.9TH, TYR, GUSB
23leukotriene b444 61 2411.9GUSB, MPO, CTSG
24dhica449.9TYR, DCT
25l-dopachrome44 2410.8TYR, DCT
265,6-dihydroxyindole44 2410.8TYR, DCT
27arbutin2 4410.8TYR, DCT
28dopaquinone44 2410.8TYR, DCT
29eumelanin449.8TYR, DCT
30hocl449.8CTSG, MPO
31paraffin449.6CTSG, MPO, TYR, TH
32genistein44 28 61 2 24 1114.6DYT10, GUSB, TYR, ABCA1
33formaldehyde44 2410.6TH, TYR, MPO, LAMP1
34fmlp449.5CTSG, DYT10, MPO, GUSB
35aspartate449.5CTSG, GUSB, TYR, TH
36lactate449.4CTSG, MPO, GUSB, TH
37levodopa44 1110.4TH, TYR, DCT, HPS1
38dopachrome449.4LAMP1, DCT, TYR
39glutamate449.4ABCA1, TH, TYR, GUSB, DYT10
40histamine44 28 2411.3TH, GUSB, MPO, DYT10, CTSG
41mannose 6-phosphate44 2410.2GUSB, LAMP1, GZMA, CTSG
42h2o2449.2TH, TYR, MPO, DYT10, CTSG
43ibmx44 61 2811.2TH, TYR, DCT, DYT10
44forskolin44 50 1111.0ABCA1, TH, DCT, DYT10
45superoxide44 249.8GUSB, MPO, GZMA, CTSG
46oxygen44 249.4ABCA1, TH, TYR, MPO, DCT, GZMA
47retinoic acid44 249.3ABCA1, TH, TYR, MPO, DCT, DYT10
48serine447.9ABCA1, TYR, MPO, DYT10, GZMA, CTSG
49calcium44 50 24 1110.8ABCA1, GUSB, SH2D1A, MPO, LAMP1, DYT10
50tyrosine447.5ABCA1, TH, TYR, SH2D1A, DCT, LAMP1

GO Terms for genes affiliated with Chediak-Higashi Syndrome

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet