CHS
MCID: CHD001
MIFTS: 67

Chediak-Higashi Syndrome (CHS)

Categories: Blood diseases, Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Chediak-Higashi Syndrome

MalaCards integrated aliases for Chediak-Higashi Syndrome:

Name: Chediak-Higashi Syndrome 57 12 74 74 25 20 43 58 73 36 13 54 44 15 37 39 71
Chs 57 12 20 43 73 15
Chédiak-Higashi Syndrome 29 6
Oculocutaneous Albinism with Leukocyte Defect 43
Chediak-Steinbrinck-Higashi Syndrome 43
Chediak-Higashi-Steinbrink Syndrome 58
Chediak - Steinbrinck Anomaly 12
Chediak Higashi Syndrome 20
Chediak-Higashi Disease 58

Characteristics:

Orphanet epidemiological data:

58
chediak-higashi syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
chediak-higashi syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset young adult onset neonatal onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism
Rare haematological diseases
Rare immunological diseases


Summaries for Chediak-Higashi Syndrome

MedlinePlus Genetics : 43 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.Chediak-Higashi syndrome is also characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and light-colored hair, often with a metallic sheen. Oculocutaneous albinism also causes vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).Many people with Chediak-Higashi syndrome have problems with blood clotting (coagulation) that lead to easy bruising and abnormal bleeding. In adulthood, Chediak-Higashi syndrome can also affect the nervous system, causing weakness, clumsiness, difficulty with walking, and seizures.If the disease is not successfully treated, most children with Chediak-Higashi syndrome reach a stage of the disorder known as the accelerated phase. This severe phase of the disease is thought to be triggered by a viral infection. In the accelerated phase, white blood cells (which normally help fight infection) divide uncontrollably and invade many of the body's organs. The accelerated phase is associated with fever, episodes of abnormal bleeding, overwhelming infections, and organ failure. These medical problems are usually life-threatening in childhood.A small percentage of people with Chediak-Higashi syndrome have a milder form of the condition that appears later in life. People with the adult form of the disorder have less noticeable changes in pigmentation and are less likely to have recurrent, severe infections. They do, however, have a significant risk of progressive neurological problems such as tremors, difficulty with movement and balance (ataxia), reduced sensation and weakness in the arms and legs (peripheral neuropathy), and a decline in intellectual functioning.

MalaCards based summary : Chediak-Higashi Syndrome, also known as chs, is related to griscelli syndrome and lysosomal storage disease, and has symptoms including seizures, tremor and muscle weakness. An important gene associated with Chediak-Higashi Syndrome is LYST (Lysosomal Trafficking Regulator), and among its related pathways/superpathways are Phenylalanine metabolism and Melanin biosynthesis. The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include eye, bone marrow and neutrophil, and related phenotypes are hypopigmentation of the skin and hemophagocytosis

Disease Ontology : 12 A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has material basis in mutations in the CHS1 gene.

GARD : 20 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.

KEGG : 36 Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial skin and ocular albinism, increased susceptibility to infections, and progressive neuropathy. Clinical reports of CHS have identified mutations in the CHS1/LYST gene.

UniProtKB/Swiss-Prot : 73 Chediak-Higashi syndrome: A rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendency, neurologic abnormalities, abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. Most patients die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT).

Wikipedia : 74 Béguez-Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive disorder that arises from a mutation... more...

More information from OMIM: 214500
GeneReviews: NBK5188

Related Diseases for Chediak-Higashi Syndrome

Diseases related to Chediak-Higashi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 370)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome 32.5 TYRP1 TYR RAB27A PRODH LYST LAMP1
2 lysosomal storage disease 32.4 SERPINA3 H2AC18 GUSB CCR6
3 albinism, oculocutaneous, type ib 32.4 TYRP1 TYR
4 albinism 32.3 TYRP1 TYR DCT
5 oculocutaneous albinism 32.0 TYRP1 TYR DCT CD63
6 autosomal recessive disease 31.6 TYR SERPINA3 PRODH ICOSLG H2AC18 CCR6
7 bacterial infectious disease 31.5 SERPINA3 ICOSLG H2AC18 CCR6
8 hemophagocytic lymphohistiocytosis 31.3 RAB27A LYST LAMP1
9 peripheral nervous system disease 31.1 SERPINA3 PRODH ICOSLG H2AC18 CCR6 BLOC1S1
10 pathologic nystagmus 31.0 TYRP1 TYR LYST
11 hermansky-pudlak syndrome 30.9 TYRP1 TYR RAB27A LYST LAMP1 DCT
12 bone resorption disease 30.9 SERPINA3 H2AC18 CCR6
13 griscelli syndrome, type 2 30.8 RAB27A PRODH LYST
14 exanthem 30.7 ICOSLG H2AC18 CCR6
15 optic nerve disease 30.6 TYR SERPINA3 ICOSLG CCR6 BLOC1S1
16 inherited metabolic disorder 30.5 SERPINA3 PRODH H2AC18 CCR6 BLOC1S1 ABCA1
17 immune deficiency disease 30.5 SERPINA3 RAB27A ICOSLG H2AC18 FASLG CCR6
18 skin carcinoma 30.4 TYRP1 TYR ICOSLG H2AC18 CCR6
19 blood platelet disease 30.4 SERPINA3 PRODH MPO ICOSLG H2AC18 CCR6
20 body mass index quantitative trait locus 11 30.0 SERPINA3 PRODH ICOSLG H2AC18 CCR6 BLOC1S1
21 eye disease 29.8 TYR SERPINA3 PRODH ICOSLG H2AC18 FASLG
22 attenuated chediak-higashi syndrome 11.5
23 storage pool platelet disease 11.3
24 neutropenia, severe congenital, 3, autosomal recessive 11.3
25 central hypoventilation syndrome, congenital 11.1
26 pancytopenia 10.6
27 lymphoproliferative syndrome 10.6
28 neuropathy 10.5
29 albinism, oculocutaneous, type v 10.5 TYRP1 TYR LYST
30 albinism, oculocutaneous, type vii 10.5 TYRP1 TYR LYST
31 albinism, oculocutaneous, type iv 10.5 TYRP1 TYR DCT
32 tietz albinism-deafness syndrome 10.5 TYRP1 TYR DCT
33 parkinsonism 10.5
34 waardenburg syndrome, type 2a 10.5 TYR DCT BLOC1S1
35 legume allergy 10.5 ICOSLG CD63 CCR6
36 fruit allergy 10.5 ICOSLG CD63 CCR6
37 central nervous system vasculitis 10.4 SERPINA3 MPO CCR6
38 bronchopneumonia 10.4 SERPINA3 MPO GUSB
39 acute proliferative glomerulonephritis 10.4 MPO ICOSLG CCR6
40 neutropenia 10.4
41 posttransplant acute limbic encephalitis 10.4
42 ochronosis 10.4 TYRP1 TYR
43 voyeurism 10.4 SERPINA3 PRODH
44 gastric squamous cell carcinoma 10.4 SERPINA3 CCR6
45 middle ear disease 10.4 SERPINA3 MPO CCR6
46 goodpasture syndrome 10.4 MPO H2AC18 CCR6
47 hypersensitivity vasculitis 10.4 SERPINA3 MPO ICOSLG
48 albinism, oculocutaneous, type iii 10.4 TYRP1 TYR DCT BLOC1S1
49 henoch-schoenlein purpura 10.4 SERPINA3 MPO ICOSLG
50 dysentery 10.4 MPO H2AC18 CCR6

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



Diseases related to Chediak-Higashi Syndrome

Symptoms & Phenotypes for Chediak-Higashi Syndrome

Human phenotypes related to Chediak-Higashi Syndrome:

58 31 (show top 50) (show all 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001010
2 hemophagocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012156
3 vacuolated lymphocytes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001922
4 increased proportion of cd25+ mast cells 58 31 hallmark (90%) Very frequent (99-80%) HP:0031408
5 splenomegaly 58 31 very rare (1%) Frequent (79-30%) HP:0001744
6 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
7 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
8 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
9 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
10 immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002721
11 hypopigmentation of hair 58 31 frequent (33%) Frequent (79-30%) HP:0005599
12 periodontitis 58 31 frequent (33%) Frequent (79-30%) HP:0000704
13 reduced visual acuity 58 31 very rare (1%) Frequent (79-30%) HP:0007663
14 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
15 abnormal platelet function 58 31 frequent (33%) Frequent (79-30%) HP:0011869
16 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
17 iris hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007730
18 recurrent bacterial skin infections 58 31 very rare (1%) Frequent (79-30%) HP:0005406
19 hepatosplenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001433
20 decreased liver function 58 31 frequent (33%) Frequent (79-30%) HP:0001410
21 recurrent staphylococcal infections 58 31 frequent (33%) Frequent (79-30%) HP:0007499
22 abnormality of neutrophil physiology 58 31 frequent (33%) Frequent (79-30%) HP:0011990
23 rotary nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0001583
24 large clumps of pigment irregularly distributed along hair shaft 58 31 frequent (33%) Frequent (79-30%) HP:0004527
25 abnormal natural killer cell morphology 58 31 frequent (33%) Frequent (79-30%) HP:0012176
26 recurrent streptococcal infections 58 31 frequent (33%) Frequent (79-30%) HP:0020096
27 increased circulating ferritin concentration 31 frequent (33%) HP:0003281
28 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
29 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
30 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
31 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
32 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
33 hypertriglyceridemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002155
34 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
35 decreased nerve conduction velocity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000762
36 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
37 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
38 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
39 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
40 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
41 hyponatremia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002902
42 sensory neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000763
43 epistaxis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000421
44 skin rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0000988
45 neutropenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001875
46 gingival bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000225
47 spastic paraplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001258
48 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
49 pleural effusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0002202
50 lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002716

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
tremor
neurodegeneration
abnormal gait
mental deficiency
more
Muscle Soft Tissue:
muscle weakness
giant granules in muscle cells

Abdomen Liver:
hepatomegaly
jaundice

Skin Nails Hair Skin:
jaundice
mild/severe skin hypopigmentation

Skin Nails Hair Skin Histology:
giant melanosomes in melanocytes

Skin Nails Hair Hair:
mild hair hypopigmentation

Head And Neck Eyes:
nystagmus
photophobia
strabismus
reduced visual acuity
macular hypoplasia
more
Abdomen Spleen:
splenomegaly

Hematology:
anemia
thrombocytopenia
leukopenia
giant inclusion bodies present in most granulated cells

Head And Neck Mouth:
gingivitis
pseudomembranous sloughing of buccal mucosa

Neurologic Peripheral Nervous System:
progressive peripheral neuropathy
foot drop

Immunology:
recurrent cutaneous and systemic pyogenic infections
absent natural killer cell cytotoxicity
normal b cell function
decreased neutrophil and monocyte migration and chemotaxis
lymphadenopathy in late phase
more

Clinical features from OMIM®:

214500 (Updated 05-Mar-2021)

UMLS symptoms related to Chediak-Higashi Syndrome:


seizures, tremor, muscle weakness, photophobia, icterus, decreased tendon reflex

MGI Mouse Phenotypes related to Chediak-Higashi Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 ABCA1 BLOC1S1 CCR6 CD63 DCT FASLG
2 integument MP:0010771 9.65 DCT FASLG GUSB LAMP1 LYST PRODH
3 pigmentation MP:0001186 9.17 BLOC1S1 DCT LYST PRODH RAB27A TYR

Drugs & Therapeutics for Chediak-Higashi Syndrome

Drugs for Chediak-Higashi Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3 Immunosuppressive Agents Phase 2, Phase 3
4 Immunologic Factors Phase 2, Phase 3
5 Alkylating Agents Phase 2, Phase 3
6 Thymoglobulin Phase 2, Phase 3
7
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
8
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
9
Mycophenolic acid Approved Phase 2 24280-93-1 446541
10
Melphalan Approved Phase 2 148-82-3 4053 460612
11
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
12
alemtuzumab Approved, Investigational Phase 2 216503-57-0
13
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
14 Antilymphocyte Serum Phase 2
15 Cyclosporins Phase 2
16 Dermatologic Agents Phase 2
17 Antifungal Agents Phase 2
18 Calcineurin Inhibitors Phase 2
19 Antibiotics, Antitubercular Phase 2
20 gamma-Globulins Phase 2
21 Immunoglobulins Phase 2
22 Antitubercular Agents Phase 2
23 Anti-Bacterial Agents Phase 2
24 Immunoglobulins, Intravenous Phase 2
25 Antibodies Phase 2
26 Rho(D) Immune Globulin Phase 2
27 Antineoplastic Agents, Immunological Phase 2
28
Abatacept Approved Phase 1 332348-12-6 10237
29
Lenograstim Approved, Investigational 135968-09-1
30
Mesna Approved, Investigational 3375-50-6 598
31
Vidarabine Approved, Investigational 24356-66-9 32326 21704
32
Levoleucovorin Approved, Investigational 68538-85-2 149436
33
Methotrexate Approved 1959-05-2, 59-05-2 126941
34
Etoposide Approved 33419-42-0 36462
35
Prednisone Approved, Vet_approved 53-03-2 5865
36 Prednisolone acetate Approved, Vet_approved 52-21-1
37
Prednisolone Approved, Vet_approved 50-24-8 5755
38
Methylprednisolone hemisuccinate Approved 2921-57-5
39
Methylprednisolone Approved, Vet_approved 83-43-2 6741
40
Prednisolone phosphate Approved, Vet_approved 302-25-0
41
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
42
Prednisolone hemisuccinate Experimental 2920-86-7
43 Antirheumatic Agents
44 Anti-Infective Agents
45 Antiviral Agents
46 Folic Acid Antagonists
47 Vitamin B Complex
48 Antimetabolites
49 Vitamin B9
50 Etoposide phosphate

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 In-vivo T-cell Depletion and Hematopoietic Stem Cell Transplantation for Life-Threatening Immune Deficiencies and Histiocytic Disorders Terminated NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
2 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
3 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Immunologic or Histiocytic Disorders Using a Non-Myeloablative Preparative Regimen to Achieve Stable Mixed Chimerism Completed NCT00176865 Phase 2 Fludarabine;Melphalan;Anti-thymocyte globulin (ATG);Campath 1H;Cyclosporin A;Mycophenolate mofetil;Intravenous immunoglobulin (IVIG)
4 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
5 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
6 Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders Unknown status NCT00006056 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;filgrastim;methotrexate
7 Cognitive Function in Leukocyte Disorders Completed NCT00005933
8 Investigations Into Chediak-Higashi Syndrome and Related Disorders Recruiting NCT00005917
9 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
10 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
11 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot Study Terminated NCT01319851 Alefacept

Search NIH Clinical Center for Chediak-Higashi Syndrome

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Chediak-Higashi Syndrome cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Chediak-Higashi Syndrome:
Hematopoietic stem cell transplantation for the treatment of genetic blood cell-related diseases
Embryonic/Adult Cultured Cells Related to Chediak-Higashi Syndrome:
Umbilical cord blood-derived hematopoietic stem cells (family)
Bone marrow-derived hematopoietic stem cells (family)

Cochrane evidence based reviews: chediak-higashi syndrome

Genetic Tests for Chediak-Higashi Syndrome

Genetic tests related to Chediak-Higashi Syndrome:

# Genetic test Affiliating Genes
1 Chédiak-Higashi Syndrome 29 LYST

Anatomical Context for Chediak-Higashi Syndrome

MalaCards organs/tissues related to Chediak-Higashi Syndrome:

40
Eye, Bone Marrow, Neutrophil, Bone, Brain, Spinal Cord, Liver

Publications for Chediak-Higashi Syndrome

Articles related to Chediak-Higashi Syndrome:

(show top 50) (show all 837)
# Title Authors PMID Year
1
Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome. 54 25 57 61
9606205 1998
2
Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation. 25 57 61
24521565 2014
3
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1. 25 61 57
20503323 2010
4
Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome. 61 57 25
15790783 2005
5
Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. 25 57 61
11857544 2002
6
Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1. 25 57 61
10482950 1999
7
The Chediak-Higashi syndrome: studies in four patients and a review of the literature. 25 57 61
5064229 1972
8
The WD repeat protein FAN regulates lysosome size independent from abnormal downregulation/membrane recruitment of protein kinase C. 61 25 54
17512928 2007
9
Hemophagocytic lymphohistiocytosis and related disorders. 61 54 25
17088644 2006
10
A missense mutation in the WD40 domain of murine Lyst is linked to severe progressive Purkinje cell degeneration. 61 54 25
16791600 2006
11
Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome. 54 25 61
15896657 2005
12
Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28. 61 57
10782205 2000
13
Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation. 57 61
10411929 1999
14
Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. 57 61
9215679 1997
15
Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. 61 57
9215680 1997
16
Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg). 57 61
8751863 1996
17
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43. 61 57
8751864 1996
18
The role of high dose methylprednisolone and splenectomy in the accelerated phase of Chédiak-Higashi syndrome. 61 57
8701696 1996
19
Adult Chédiak-Higashi syndrome presenting as parkinsonism and dementia. 61 57
8030398 1994
20
Chediak-Higashi syndrome: report of a case with an ovarian tumor. 61 57
2070553 1991
21
Peripheral neuropathy in the Chediak-Higashi syndrome. 57 61
2058369 1991
22
Chediak-Higashi syndrome in the cat: prenatal diagnosis by evaluation of amniotic fluid cells. 61 57
2363432 1990
23
[The accelerated phase of Chediak-Higashi syndrome]. 57 61
2697195 1989
24
Microbicidal/cytotoxic proteins of neutrophils are deficient in two disorders: Chediak-Higashi syndrome and "specific" granule deficiency. 57 61
2841356 1988
25
Relationship of the genes for Chediak-Higashi syndrome (beige) and the T-cell receptor gamma chain in mouse and man. 61 57
2895730 1987
26
A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome. 61 57
3425619 1987
27
Animal model. Light and electron microscopy of hepatocytes of cats with Chediak-Higashi syndrome. 61 57
4073119 1985
28
Reversal of natural killer defect in a patient with Chédiak-Higashi syndrome after bone-marrow transplantation. 61 57
7038504 1982
29
Chédiak-Higashi syndrome in a "Black' child. 57 61
7256443 1981
30
Chediak-Higashi syndrome: abnormal lysosomal enzyme levels in granulocytes of patients and family members. 61 57
6252536 1980
31
The Chédiak-Higashi syndrome; the nature of the giant neutrophil granules and their interactions with cytoplasm and foreign particulates. I. Progressive enlargement of the massive inclusions in mature neutrophils. II. Manifestations of cytoplasmic injury and sequestration. III. Interactions between giant organelles and foreign particulates. 61 57
6243205 1980
32
The Chediak-Higashi syndrome: microtubules in monocytes and lymphocytes. 61 57
546223 1979
33
A new familial defect in neutrophil bactericidal activity. 57 61
711501 1978
34
Correction of leukocyte function in Chediak-Higashi syndrome by ascorbate. 57 61
184391 1976
35
Correction of characteristic abnormalities of microtubule function and granule morphology in Chediak-Higashi syndrome with cholinergic agonists. 57 61
1262469 1976
36
The Chediak-Higashi syndrome. 61 57
5494950 1970
37
Alteration of sphingolipid metabolism in leukocytes from patients with the Chediak-Higashi syndrome. 57 61
5663187 1968
38
The Chediak-Higashi syndrome: a possible lysosomal disease. 61 57
5913047 1966
39
Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles. 61 57
5908967 1966
40
CHEDIAK-HIGASHI SYNDROME. 57 61
14229594 1965
41
CHEDIAK-HIGASHI SYNDROME. CYTOLOGIC AND SERUM LIPID OBSERVATIONS IN A CASE AND FAMILY. 61 57
14142411 1964
42
THE FAMILIAL OCCURRENCE OF THE CHEDIAK-HIGASHI SYNDROME IN MINK AND CATTLE. 61 57
14135410 1964
43
The Chediak-Higashi syndrome. 57 61
14483147 1962
44
Chédiak-Higashi syndrome; a lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: report of a case with necropsy. 57 61
13465231 1957
45
Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells. 61 25
26478006 2016
46
Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype. 25 61
24112114 2014
47
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. 25 61
23403622 2013
48
Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease. 61 25
23521865 2013
49
Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism. 25 61
23436631 2013
50
Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome. 61 25
21878672 2011

Variations for Chediak-Higashi Syndrome

ClinVar genetic disease variations for Chediak-Higashi Syndrome:

6 (show top 50) (show all 646)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LYST NM_000081.4(LYST):c.3601del (p.Ser1201fs) Deletion Pathogenic 662959 1:235966319-235966319 1:235803019-235803019
2 LYST NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter) SNV Pathogenic 838337 1:235875408-235875408 1:235712108-235712108
3 LYST NM_000081.3(LYST):c.7060_7066del (p.Leu2354Metfs) Deletion Pathogenic 65546 1:235918941-235918947 1:235755641-235755647
4 LYST NM_001301365.1(LYST):c.10395del (p.Gly3466fs) Deletion Pathogenic 65530 1:235860552-235860552 1:235697252-235697252
5 LYST NM_001301365.1(LYST):c.118dup (p.Ala40fs) Duplication Pathogenic 3810 rs80338642 1:235993599-235993600 1:235830299-235830300
6 LYST NM_001301365.1(LYST):c.1467del (p.Glu489fs) Deletion Pathogenic 3808 rs80338644 1:235972651-235972651 1:235809351-235809351
7 LYST NM_001301365.1(LYST):c.148C>T (p.Arg50Ter) SNV Pathogenic 3813 rs80338643 1:235993570-235993570 1:235830270-235830270
8 LYST NM_001301365.1(LYST):c.1540C>T (p.Arg514Ter) SNV Pathogenic 65533 1:235972578-235972578 1:235809278-235809278
9 LYST NM_001301365.1(LYST):c.1902dup (p.Ala635fs) Duplication Pathogenic 3811 rs80338646 1:235972215-235972216 1:235808915-235808916
10 LYST NM_001301365.1(LYST):c.2413del (p.Glu805fs) Deletion Pathogenic 65535 1:235970023-235970023 1:235806723-235806723
11 LYST NM_001301365.1(LYST):c.2454del (p.Ala819fs) Deletion Pathogenic 65536 1:235969982-235969982 1:235806682-235806682
12 LYST NM_001301365.1(LYST):c.2623del (p.Tyr875fs) Deletion Pathogenic 3815 rs80338649 1:235969813-235969813 1:235806513-235806513
13 LYST NM_001301365.1(LYST):c.3073_3074del (p.Asn1025fs) Deletion Pathogenic 65538 1:235969362-235969363 1:235806062-235806063
14 LYST NM_001301365.1(LYST):c.3085C>T (p.Gln1029Ter) SNV Pathogenic 3814 rs80338651 1:235969351-235969351 1:235806051-235806051
15 LYST NM_001301365.1(LYST):c.3434dup (p.His1145fs) Duplication Pathogenic 65539 1:235967924-235967925 1:235804624-235804625
16 LYST NM_001301365.1(LYST):c.4052C>G (p.Ser1351Ter) SNV Pathogenic 65540 1:235956867-235956867 1:235793567-235793567
17 LYST NM_001301365.1(LYST):c.4274del (p.Leu1425fs) Deletion Pathogenic 65541 1:235955268-235955268 1:235791968-235791968
18 LYST NM_001301365.1(LYST):c.4361C>A (p.Ala1454Asp) SNV Pathogenic 65542 1:235955181-235955181 1:235791881-235791881
19 LYST NM_001301365.1(LYST):c.4688G>A (p.Arg1563His) SNV Pathogenic 3816 rs80338657 1:235952001-235952001 1:235788701-235788701
20 LYST NM_001301365.1(LYST):c.5061T>A (p.Tyr1687Ter) SNV Pathogenic 65543 1:235944318-235944318 1:235781018-235781018
21 LYST NM_001301365.1(LYST):c.5317del (p.Arg1773fs) Deletion Pathogenic 65544 1:235940506-235940506 1:235777206-235777206
22 LYST NM_001301365.1(LYST):c.5996T>A (p.Val1999Asp) SNV Pathogenic 3817 rs28942077 1:235929504-235929504 1:235766204-235766204
23 LYST NM_001301365.1(LYST):c.6078C>A (p.Tyr2026Ter) SNV Pathogenic 65545 1:235929422-235929422 1:235766122-235766122
24 LYST NM_001301365.1(LYST):c.7555del (p.Tyr2519fs) Deletion Pathogenic 65547 1:235915377-235915377 1:235752077-235752077
25 LYST NM_001301365.1(LYST):c.8428G>A (p.Glu2810Lys) SNV Pathogenic 65548 1:235897890-235897890 1:235734590-235734590
26 LYST NM_001301365.1(LYST):c.8583G>A (p.Trp2861Ter) SNV Pathogenic 65549 1:235897159-235897159 1:235733859-235733859
27 LYST NM_001301365.1(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077delinsPhePheGlnTer) Insertion Pathogenic 65550 1:235887414-235887415 1:235724114-235724115
28 LYST NM_001301365.1(LYST):c.9590del (p.Tyr3197fs) Deletion Pathogenic 3812 rs80338667 1:235880049-235880049 1:235716749-235716749
29 LYST NM_001301365.1(LYST):c.9893del (p.Phe3298fs) Deletion Pathogenic 65552 1:235875389-235875389 1:235712089-235712089
30 LYST NM_001301365.1(LYST):c.3944dup (p.Val1316fs) Duplication Pathogenic 180624 1:235963681-235963682 1:235800381-235800382
31 LYST NM_001301365.1(LYST):c.5541_5542del (p.Arg1848fs) Deletion Pathogenic 180626 1:235938305-235938306 1:235775005-235775006
32 LYST NM_001301365.1(LYST):c.11102G>T (p.Cys3701Phe) SNV Pathogenic 180630 1:235827858-235827858 1:235664558-235664558
33 LYST NM_001301365.1(LYST):c.5956C>T (p.Arg1986Ter) SNV Pathogenic 525149 1:235929544-235929544 1:235766244-235766244
34 LYST NM_001301365.1(LYST):c.2413G>T (p.Glu805Ter) SNV Pathogenic 571664 1:235970023-235970023 1:235806723-235806723
35 LYST NM_000081.3(LYST):c.9107_9162del (p.Gly3036Glufs) Deletion Pathogenic 40979
36 LYST NM_001301365.1(LYST):c.8802-2A>G SNV Pathogenic 435793 1:235894479-235894479 1:235731179-235731179
37 LYST NM_001301365.1(LYST):c.925C>T (p.Arg309Ter) SNV Pathogenic 180621 1:235973193-235973193 1:235809893-235809893
38 LYST NM_000081.4(LYST):c.772T>C (p.Cys258Arg) SNV Pathogenic 180622 1:235973346-235973346 1:235810046-235810046
39 LYST NM_000081.4(LYST):c.3622C>T (p.Gln1208Ter) SNV Pathogenic 180623 1:235966298-235966298 1:235802998-235802998
40 LYST NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter) SNV Pathogenic 180625 1:235938341-235938341 1:235775041-235775041
41 LYST NM_000081.4(LYST):c.7982C>G (p.Ser2661Ter) SNV Pathogenic 180627 1:235907448-235907448 1:235744148-235744148
42 LYST NM_000081.4(LYST):c.8281A>T (p.Arg2761Ter) SNV Pathogenic 180628 1:235904799-235904799 1:235741499-235741499
43 LYST NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del) Deletion Pathogenic 180629 1:235875450-235875455 1:235712150-235712155
44 LYST NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg) SNV Pathogenic 180631 1:235827787-235827787 1:235664487-235664487
45 LYST NM_001301365.1(LYST):c.3310C>T (p.Arg1104Ter) SNV Pathogenic/Likely pathogenic 3809 rs80338652 1:235969126-235969126 1:235805826-235805826
46 LYST NM_000081.4(LYST):c.3170del (p.Lys1057fs) Deletion Likely pathogenic 828122 1:235969266-235969266 1:235805966-235805966
47 LYST NM_000081.4(LYST):c.4862+2T>A SNV Likely pathogenic 851637 1:235950498-235950498 1:235787198-235787198
48 LYST NM_000081.4(LYST):c.4863-4G>T SNV Likely pathogenic 561991 1:235945391-235945391 1:235782091-235782091
49 LYST NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter) SNV Likely pathogenic 804382 1:235884188-235884188 1:235720888-235720888
50 LYST NM_001301365.1(LYST):c.10800+4G>T SNV Conflicting interpretations of pathogenicity 296350 rs41308172 1:235850245-235850245 1:235686945-235686945

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

73
# Symbol AA change Variation ID SNP ID
1 LYST p.Arg1563His VAR_013556 rs80338657
2 LYST p.Val1999Asp VAR_013557 rs28942077
3 LYST p.Phe1397Val VAR_071512
4 LYST p.Ile1907Val VAR_083516 rs370441301

Expression for Chediak-Higashi Syndrome

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

Pathways for Chediak-Higashi Syndrome

Pathways related to Chediak-Higashi Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.03 TYRP1 TYR DCT
2 9.5 TYRP1 TYR DCT

GO Terms for Chediak-Higashi Syndrome

Cellular components related to Chediak-Higashi Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.06 SERPINA3 RAB27A MPO LAMP1 ICOSLG H2AC18
2 intracellular membrane-bounded organelle GO:0043231 9.86 TYR PRODH MPO HLA-DMA GUSB DCT
3 endosome membrane GO:0010008 9.8 TYRP1 LAMP1 HLA-DMA CD63
4 cell surface GO:0009986 9.8 LAMP1 HLA-DMA FASLG CD63 CCR6 ABCA1
5 external side of plasma membrane GO:0009897 9.77 LAMP1 ICOSLG FASLG CCR6 ABCA1
6 azurophil granule lumen GO:0035578 9.63 SERPINA3 MPO GUSB
7 multivesicular body membrane GO:0032585 9.48 RAB27A CD63
8 melanosome membrane GO:0033162 9.46 TYRP1 TYR RAB27A DCT
9 intracellular vesicle GO:0097708 9.43 TYRP1 ABCA1
10 melanosome GO:0042470 9.43 TYRP1 TYR RAB27A LAMP1 DCT CD63
11 lysosome GO:0005764 9.28 TYR RAB27A MPO LAMP1 HLA-DMA GUSB

Biological processes related to Chediak-Higashi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.8 SERPINA3 RAB27A MPO LAMP1 GUSB CD63
2 platelet dense granule organization GO:0060155 9.4 BLOC1S1 ABCA1
3 response to blue light GO:0009637 9.37 TYR DCT
4 melanosome organization GO:0032438 9.33 TYRP1 LYST BLOC1S1
5 melanin biosynthetic process from tyrosine GO:0006583 9.26 TYR DCT
6 melanin biosynthetic process GO:0042438 9.13 TYRP1 TYR DCT
7 pigmentation GO:0043473 9.1 TYRP1 TYR RAB27A LYST DCT CD63

Molecular functions related to Chediak-Higashi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Chediak-Higashi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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