CHS
MCID: CHD001
MIFTS: 66

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 56 12 74 74 24 52 25 58 73 36 13 54 43 15 37 39 71
Chs 56 12 52 25 73 15
Chédiak-Higashi Syndrome 29 6
Oculocutaneous Albinism with Leukocyte Defect 25
Chediak-Steinbrinck-Higashi Syndrome 25
Chediak-Higashi-Steinbrink Syndrome 58
Chediak - Steinbrinck Anomaly 12
Chediak Higashi Syndrome 52
Chediak-Higashi Disease 58

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
chediak-higashi syndrome:
Inheritance autosomal recessive inheritance


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

Genetics Home Reference : 25 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 storage pool platelet disease, and has symptoms including seizures, photophobia and muscle weakness. An important gene associated with Chediak-Higashi Syndrome is LYST (Lysosomal Trafficking Regulator), and among its related pathways/superpathways are Tyrosine metabolism and Melanin biosynthesis. The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skin, neutrophil and bone, and related phenotypes are splenomegaly and recurrent respiratory infections

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.

NIH Rare Diseases : 52 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 Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive disorder that arises from a mutation of a... 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 453)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome 33.8 RAB27A PRODH LYST
2 storage pool platelet disease 33.4 CD63 BLOC1S1
3 albinism, oculocutaneous, type ib 33.2 TYRP1 TYR
4 oculocutaneous albinism 32.5 TYRP1 TYR DCT CD63
5 autosomal recessive disease 32.1 TYR SERPINA3 PRODH ICOSLG CCR6 BLOC1S1
6 hemophagocytic lymphohistiocytosis 32.1 RAB27A LYST LAMP1
7 bacterial infectious disease 31.9 SERPINA3 PRODH ICOSLG CCR6
8 pathologic nystagmus 31.7 TYRP1 TYR LYST
9 peripheral nervous system disease 31.6 SERPINA3 PRODH ICOSLG CCR6
10 hermansky-pudlak syndrome 31.4 TYRP1 TYR RAB27A LYST LAMP1 DCT
11 griscelli syndrome, type 2 31.3 RAB27A PRODH LYST
12 exanthem 31.2 MPO ICOSLG CCR6
13 dowling-degos disease 1 31.2 TYRP1 TYR
14 blood platelet disease 31.1 PRODH ICOSLG CCR6
15 skin carcinoma 31.1 TYRP1 TYR ICOSLG CCR6
16 optic nerve disease 31.0 TYR SERPINA3 ICOSLG CCR6 BLOC1S1
17 inherited metabolic disorder 31.0 SERPINA3 PRODH CCR6 BLOC1S1 ABCA1
18 immune deficiency disease 31.0 SERPINA3 RAB27A ICOSLG FASLG CCR6
19 overnutrition 30.3 SERPINA3 PRODH ICOSLG CCR6 BLOC1S1
20 myeloma, multiple 30.2 SERPINA3 ICOSLG FASLG CCR6 BLOC1S1
21 leukemia, acute myeloid 30.1 SERPINA3 PRODH MPO ICOSLG FASLG CCR6
22 eye disease 30.1 TYR SERPINA3 PRODH ICOSLG FASLG CCR6
23 attenuated chediak-higashi syndrome 12.7
24 congenital hypothyroidism 12.0
25 cluster headache 12.0
26 lysosomal storage disease 11.9
27 blood group, chido/rodgers system 11.7
28 central hypoventilation syndrome, congenital 11.7
29 neutropenia, severe congenital, 3, autosomal recessive 11.6
30 cluster headache, familial 11.4
31 cyclic neutropenia 11.2
32 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.2
33 albinism 11.1
34 neutropenia 10.8
35 lymphoproliferative syndrome 10.7
36 pancytopenia 10.7
37 albinism, oculocutaneous, type v 10.7 TYRP1 TYR LYST
38 neuropathy 10.7
39 albinism, oculocutaneous, type iv 10.7 TYRP1 TYR DCT
40 tietz albinism-deafness syndrome 10.7 TYRP1 TYR DCT
41 griscelli syndrome, type 1 10.6 RAB27A LYST BLOC1S1
42 legume allergy 10.6 ICOSLG CD63 CCR6
43 fruit allergy 10.6 ICOSLG CD63 CCR6
44 central nervous system vasculitis 10.6 SERPINA3 MPO CCR6
45 gastric squamous cell carcinoma 10.6 SERPINA3 CCR6
46 dermatographia 10.6 CD63 CCR6
47 bronchopneumonia 10.6 SERPINA3 MPO GUSB
48 acute proliferative glomerulonephritis 10.6 MPO ICOSLG CCR6
49 ochronosis 10.6 TYRP1 TYR
50 autoimmune disease of urogenital tract 10.6 MPO ICOSLG 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 105)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Frequent (79-30%) HP:0001744
2 recurrent respiratory infections 58 31 hallmark (90%) Frequent (79-30%) HP:0002205
3 fever 58 31 hallmark (90%) Frequent (79-30%) HP:0001945
4 immunodeficiency 58 31 hallmark (90%) Frequent (79-30%) HP:0002721
5 anemia 58 31 hallmark (90%) Occasional (29-5%) HP:0001903
6 gingival bleeding 58 31 hallmark (90%) Occasional (29-5%) HP:0000225
7 thrombocytopenia 58 31 hallmark (90%) Occasional (29-5%) HP:0001873
8 periodontitis 58 31 hallmark (90%) Frequent (79-30%) HP:0000704
9 neutropenia 58 31 hallmark (90%) Occasional (29-5%) HP:0001875
10 bruising susceptibility 58 31 hallmark (90%) Frequent (79-30%) HP:0000978
11 lymphadenopathy 58 31 hallmark (90%) Occasional (29-5%) HP:0002716
12 iris hypopigmentation 58 31 hallmark (90%) Frequent (79-30%) HP:0007730
13 abnormality of multiple cell lineages in the bone marrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0012145
14 global developmental delay 31 hallmark (90%) HP:0001263
15 hepatomegaly 31 hallmark (90%) HP:0002240
16 skin ulcer 31 hallmark (90%) HP:0200042
17 areflexia 31 hallmark (90%) HP:0001284
18 generalized hypopigmentation 31 hallmark (90%) HP:0007513
19 paresthesia 31 hallmark (90%) HP:0003401
20 recurrent cutaneous abscess formation 31 hallmark (90%) HP:0100838
21 white hair 31 hallmark (90%) HP:0011364
22 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
23 edema 58 31 frequent (33%) Occasional (29-5%) HP:0000969
24 tremor 58 31 frequent (33%) Occasional (29-5%) HP:0001337
25 epistaxis 58 31 frequent (33%) Occasional (29-5%) HP:0000421
26 nystagmus 31 frequent (33%) HP:0000639
27 amblyopia 31 frequent (33%) HP:0000646
28 lymphoma 31 frequent (33%) HP:0002665
29 seizure 31 frequent (33%) HP:0001250
30 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
31 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
32 developmental regression 31 occasional (7.5%) HP:0002376
33 gastrointestinal hemorrhage 31 occasional (7.5%) HP:0002239
34 melanocytic nevus 31 occasional (7.5%) HP:0000995
35 atrial septal defect 31 occasional (7.5%) HP:0001631
36 generalized hyperpigmentation 31 occasional (7.5%) HP:0007440
37 rigidity 31 occasional (7.5%) HP:0002063
38 bradykinesia 31 occasional (7.5%) HP:0002067
39 intellectual disability 58 31 Occasional (29-5%) HP:0001249
40 gait disturbance 58 31 Occasional (29-5%) HP:0001288
41 cranial nerve paralysis 58 31 Occasional (29-5%) HP:0006824
42 decreased nerve conduction velocity 58 31 Occasional (29-5%) HP:0000762
43 strabismus 58 31 Occasional (29-5%) HP:0000486
44 jaundice 58 31 Occasional (29-5%) HP:0000952
45 hypopigmentation of hair 58 31 Frequent (79-30%) HP:0005599
46 reduced visual acuity 58 31 Frequent (79-30%) HP:0007663
47 recurrent bacterial skin infections 58 31 Frequent (79-30%) HP:0005406
48 hypopigmentation of the skin 58 31 Very frequent (99-80%) HP:0001010
49 seizures 58 Occasional (29-5%)
50 visual impairment 31 HP:0000505

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Neurologic Central Nervous System:
seizures
tremor
neurodegeneration
abnormal gait
mental deficiency
more
Muscle Soft Tissue:
muscle weakness
giant granules in muscle cells

Head And Neck Mouth:
gingivitis
pseudomembranous sloughing of buccal mucosa

Skin Nails Hair Skin Histology:
giant melanosomes in melanocytes

Skin Nails Hair Hair:
mild hair hypopigmentation

Abdomen Liver:
hepatomegaly
jaundice

Head And Neck Eyes:
photophobia
nystagmus
strabismus
reduced visual acuity
macular hypoplasia
more
Hematology:
anemia
thrombocytopenia
leukopenia
giant inclusion bodies present in most granulated cells

Skin Nails Hair Skin:
jaundice
mild/severe skin hypopigmentation

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

UMLS symptoms related to Chediak-Higashi Syndrome:


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

MGI Mouse Phenotypes related to Chediak-Higashi Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 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 65)
# 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 Immunologic Factors Phase 2, Phase 3
4 Immunosuppressive Agents 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
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
11
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
12
Melphalan Approved Phase 2 148-82-3 460612 4053
13
alemtuzumab Approved, Investigational Phase 2 216503-57-0
14
Hydroxyurea Approved Phase 2 127-07-1 3657
15 Antifungal Agents Phase 2
16 Dermatologic Agents Phase 2
17 Cyclosporins Phase 2
18 Calcineurin Inhibitors Phase 2
19 Antilymphocyte Serum Phase 2
20 Immunoglobulins Phase 2
21 Antibodies Phase 2
22 Antitubercular Agents Phase 2
23 Immunoglobulins, Intravenous Phase 2
24 Rho(D) Immune Globulin Phase 2
25 Anti-Bacterial Agents Phase 2
26 gamma-Globulins Phase 2
27 Antibiotics, Antitubercular Phase 2
28 Antineoplastic Agents, Immunological Phase 2
29
Abatacept Approved Phase 1 332348-12-6 10237
30
Lenograstim Approved, Investigational 135968-09-1
31
Nitrous oxide Approved, Vet_approved 10024-97-2 948
32
Mesna Approved, Investigational 3375-50-6 598
33
Vidarabine Approved, Investigational 24356-66-9 21704 32326
34
Methotrexate Approved 59-05-2, 1959-05-2 126941
35
Etoposide Approved 33419-42-0 36462
36
leucovorin Approved 58-05-9 6006 143
37
Methylprednisolone Approved, Vet_approved 83-43-2 6741
38
Prednisone Approved, Vet_approved 53-03-2 5865
39
Prednisolone phosphate Approved, Vet_approved 302-25-0
40
Methylprednisolone hemisuccinate Approved 2921-57-5
41 Prednisolone acetate Approved, Vet_approved 52-21-1
42
Prednisolone Approved, Vet_approved 50-24-8 5755
43
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
44
Prednisolone hemisuccinate Experimental 2920-86-7
45 Anesthetics
46 Anti-Infective Agents
47 Antirheumatic Agents
48 Antiviral Agents
49 Etoposide phosphate
50 Vitamin B Complex

Interventional clinical trials:

(show all 14)
# 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 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤55 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
6 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
7 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
8 Investigation of Dental Health in Children With Neutrophil Defects: A Clinical Study Unknown status NCT03069079
9 Cognitive Function in Leukocyte Disorders Completed NCT00005933
10 Investigations of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476
11 Investigations Into Chediak-Higashi Syndrome and Related Disorders Recruiting NCT00005917
12 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
13 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot Study Terminated NCT01319851 Alefacept
14 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone

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
Skin, Neutrophil, Bone, Bone Marrow, Eye, Brain, T Cells

Publications for Chediak-Higashi Syndrome

Articles related to Chediak-Higashi Syndrome:

(show top 50) (show all 833)
# Title Authors PMID Year
1
Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome. 56 61 54 24
9606205 1998
2
Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation. 61 56 24
24521565 2014
3
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1. 61 56 24
20503323 2010
4
Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome. 61 56 24
15790783 2005
5
Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. 61 24 56
11857544 2002
6
Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1. 56 24 61
10482950 1999
7
The Chediak-Higashi syndrome: studies in four patients and a review of the literature. 24 61 56
5064229 1972
8
Chediak-Higashi Syndrome 61 6
20301751 2009
9
The WD repeat protein FAN regulates lysosome size independent from abnormal downregulation/membrane recruitment of protein kinase C. 54 61 24
17512928 2007
10
Hemophagocytic lymphohistiocytosis and related disorders. 24 61 54
17088644 2006
11
A missense mutation in the WD40 domain of murine Lyst is linked to severe progressive Purkinje cell degeneration. 54 24 61
16791600 2006
12
Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome. 24 61 54
15896657 2005
13
Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28. 56 61
10782205 2000
14
Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation. 56 61
10411929 1999
15
Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. 56 61
9215679 1997
16
Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. 61 56
9215680 1997
17
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). 61 56
8751863 1996
18
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43. 61 56
8751864 1996
19
The role of high dose methylprednisolone and splenectomy in the accelerated phase of Chédiak-Higashi syndrome. 56 61
8701696 1996
20
Adult Chédiak-Higashi syndrome presenting as parkinsonism and dementia. 56 61
8030398 1994
21
Chediak-Higashi syndrome: report of a case with an ovarian tumor. 61 56
2070553 1991
22
Peripheral neuropathy in the Chediak-Higashi syndrome. 61 56
2058369 1991
23
Chediak-Higashi syndrome in the cat: prenatal diagnosis by evaluation of amniotic fluid cells. 61 56
2363432 1990
24
[The accelerated phase of Chediak-Higashi syndrome]. 61 56
2697195 1989
25
Microbicidal/cytotoxic proteins of neutrophils are deficient in two disorders: Chediak-Higashi syndrome and "specific" granule deficiency. 61 56
2841356 1988
26
Relationship of the genes for Chediak-Higashi syndrome (beige) and the T-cell receptor gamma chain in mouse and man. 56 61
2895730 1987
27
A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome. 56 61
3425619 1987
28
Animal model. Light and electron microscopy of hepatocytes of cats with Chediak-Higashi syndrome. 61 56
4073119 1985
29
Reversal of natural killer defect in a patient with Chédiak-Higashi syndrome after bone-marrow transplantation. 61 56
7038504 1982
30
Chédiak-Higashi syndrome in a "Black' child. 56 61
7256443 1981
31
Chediak-Higashi syndrome: abnormal lysosomal enzyme levels in granulocytes of patients and family members. 56 61
6252536 1980
32
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 56
6243205 1980
33
The Chediak-Higashi syndrome: microtubules in monocytes and lymphocytes. 61 56
546223 1979
34
A new familial defect in neutrophil bactericidal activity. 56 61
711501 1978
35
Correction of leukocyte function in Chediak-Higashi syndrome by ascorbate. 61 56
184391 1976
36
Correction of characteristic abnormalities of microtubule function and granule morphology in Chediak-Higashi syndrome with cholinergic agonists. 56 61
1262469 1976
37
The Chediak-Higashi syndrome. 56 61
5494950 1970
38
Alteration of sphingolipid metabolism in leukocytes from patients with the Chediak-Higashi syndrome. 56 61
5663187 1968
39
The Chediak-Higashi syndrome: a possible lysosomal disease. 56 61
5913047 1966
40
Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles. 61 56
5908967 1966
41
CHEDIAK-HIGASHI SYNDROME. 61 56
14229594 1965
42
CHEDIAK-HIGASHI SYNDROME. CYTOLOGIC AND SERUM LIPID OBSERVATIONS IN A CASE AND FAMILY. 56 61
14142411 1964
43
THE FAMILIAL OCCURRENCE OF THE CHEDIAK-HIGASHI SYNDROME IN MINK AND CATTLE. 61 56
14135410 1964
44
The Chediak-Higashi syndrome. 56 61
14483147 1962
45
Chédiak-Higashi syndrome; a lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: report of a case with necropsy. 56 61
13465231 1957
46
Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells. 24 61
26478006 2016
47
Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype. 61 24
24112114 2014
48
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. 24 61
23403622 2013
49
Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease. 61 24
23521865 2013
50
Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism. 24 61
23436631 2013

Variations for Chediak-Higashi Syndrome

ClinVar genetic disease variations for Chediak-Higashi Syndrome:

6 (show top 50) (show all 557) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LYST NM_001301365.1(LYST):c.8802-2A>GSNV Pathogenic 435793 1:235894479-235894479 1:235731179-235731179
2 LYST NM_001301365.1(LYST):c.5956C>T (p.Arg1986Ter)SNV Pathogenic 525149 1:235929544-235929544 1:235766244-235766244
3 LYST NM_000081.4(LYST):c.3601del (p.Ser1201fs)deletion Pathogenic 662959 1:235966319-235966319 1:235803019-235803019
4 LYST NM_001301365.1(LYST):c.2413G>T (p.Glu805Ter)SNV Pathogenic 571664 1:235970023-235970023 1:235806723-235806723
5 LYST NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)SNV Pathogenic 838337 1:235875408-235875408 1:235712108-235712108
6 LYST NM_001301365.1(LYST):c.10395del (p.Gly3466fs)deletion Pathogenic 65530 1:235860552-235860552 1:235697252-235697252
7 LYST NM_001301365.1(LYST):c.1540C>T (p.Arg514Ter)SNV Pathogenic 65533 1:235972578-235972578 1:235809278-235809278
8 LYST NM_001301365.1(LYST):c.2413del (p.Glu805fs)deletion Pathogenic 65535 1:235970023-235970023 1:235806723-235806723
9 LYST NM_001301365.1(LYST):c.2454del (p.Ala819fs)deletion Pathogenic 65536 1:235969982-235969982 1:235806682-235806682
10 LYST NM_001301365.1(LYST):c.3073_3074del (p.Asn1025fs)deletion Pathogenic 65538 1:235969362-235969363 1:235806062-235806063
11 LYST NM_001301365.1(LYST):c.3434dup (p.His1145fs)duplication Pathogenic 65539 1:235967924-235967925 1:235804624-235804625
12 LYST NM_001301365.1(LYST):c.4052C>G (p.Ser1351Ter)SNV Pathogenic 65540 1:235956867-235956867 1:235793567-235793567
13 LYST NM_001301365.1(LYST):c.4274del (p.Leu1425fs)deletion Pathogenic 65541 1:235955268-235955268 1:235791968-235791968
14 LYST NM_001301365.1(LYST):c.4361C>A (p.Ala1454Asp)SNV Pathogenic 65542 1:235955181-235955181 1:235791881-235791881
15 LYST NM_001301365.1(LYST):c.5061T>A (p.Tyr1687Ter)SNV Pathogenic 65543 1:235944318-235944318 1:235781018-235781018
16 LYST NM_001301365.1(LYST):c.5317del (p.Arg1773fs)deletion Pathogenic 65544 1:235940506-235940506 1:235777206-235777206
17 LYST NM_001301365.1(LYST):c.6078C>A (p.Tyr2026Ter)SNV Pathogenic 65545 1:235929422-235929422 1:235766122-235766122
18 LYST NM_000081.3(LYST):c.7060_7066del (p.Leu2354Metfs)deletion Pathogenic 65546 1:235918941-235918947 1:235755641-235755647
19 LYST NM_001301365.1(LYST):c.7555del (p.Tyr2519fs)deletion Pathogenic 65547 1:235915377-235915377 1:235752077-235752077
20 LYST NM_001301365.1(LYST):c.8428G>A (p.Glu2810Lys)SNV Pathogenic 65548 1:235897890-235897890 1:235734590-235734590
21 LYST NM_001301365.1(LYST):c.8583G>A (p.Trp2861Ter)SNV Pathogenic 65549 1:235897159-235897159 1:235733859-235733859
22 LYST NM_001301365.1(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077delinsPhePheGlnTer)insertion Pathogenic 65550 1:235887414-235887415 1:235724114-235724115
23 LYST NM_001301365.1(LYST):c.9893del (p.Phe3298fs)deletion Pathogenic 65552 1:235875389-235875389 1:235712089-235712089
24 LYST NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)SNV Pathogenic 180631 1:235827787-235827787 1:235664487-235664487
25 LYST NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)deletion Pathogenic 180629 1:235875450-235875455 1:235712150-235712155
26 LYST NM_000081.4(LYST):c.8281A>T (p.Arg2761Ter)SNV Pathogenic 180628 1:235904799-235904799 1:235741499-235741499
27 LYST NM_000081.4(LYST):c.7982C>G (p.Ser2661Ter)SNV Pathogenic 180627 1:235907448-235907448 1:235744148-235744148
28 LYST NM_001301365.1(LYST):c.5541_5542del (p.Arg1848fs)deletion Pathogenic 180626 1:235938305-235938306 1:235775005-235775006
29 LYST NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)SNV Pathogenic 180625 1:235938341-235938341 1:235775041-235775041
30 LYST NM_001301365.1(LYST):c.3944dup (p.Val1316fs)duplication Pathogenic 180624 1:235963681-235963682 1:235800381-235800382
31 LYST NM_000081.4(LYST):c.3622C>T (p.Gln1208Ter)SNV Pathogenic 180623 1:235966298-235966298 1:235802998-235802998
32 LYST NM_001301365.1(LYST):c.925C>T (p.Arg309Ter)SNV Pathogenic 180621 1:235973193-235973193 1:235809893-235809893
33 LYST NM_000081.4(LYST):c.772T>C (p.Cys258Arg)SNV Pathogenic 180622 1:235973346-235973346 1:235810046-235810046
34 LYST NM_001301365.1(LYST):c.11102G>T (p.Cys3701Phe)SNV Pathogenic 180630 1:235827858-235827858 1:235664558-235664558
35 LYST NM_001301365.1(LYST):c.118dup (p.Ala40fs)duplication Pathogenic 3810 rs80338642 1:235993599-235993600 1:235830299-235830300
36 LYST NM_001301365.1(LYST):c.1902dup (p.Ala635fs)duplication Pathogenic 3811 rs80338646 1:235972215-235972216 1:235808915-235808916
37 LYST NM_001301365.1(LYST):c.9590del (p.Tyr3197fs)deletion Pathogenic 3812 rs80338667 1:235880049-235880049 1:235716749-235716749
38 LYST NM_001301365.1(LYST):c.148C>T (p.Arg50Ter)SNV Pathogenic 3813 rs80338643 1:235993570-235993570 1:235830270-235830270
39 LYST NM_001301365.1(LYST):c.3085C>T (p.Gln1029Ter)SNV Pathogenic 3814 rs80338651 1:235969351-235969351 1:235806051-235806051
40 LYST NM_001301365.1(LYST):c.2623del (p.Tyr875fs)deletion Pathogenic 3815 rs80338649 1:235969813-235969813 1:235806513-235806513
41 LYST NM_001301365.1(LYST):c.4688G>A (p.Arg1563His)SNV Pathogenic 3816 rs80338657 1:235952001-235952001 1:235788701-235788701
42 LYST NM_001301365.1(LYST):c.5996T>A (p.Val1999Asp)SNV Pathogenic 3817 rs28942077 1:235929504-235929504 1:235766204-235766204
43 LYST NM_000081.3(LYST):c.9107_9162del (p.Gly3036Glufs)deletion Pathogenic 40979 1:235891376-235891431 1:235728074-235728129
44 LYST NM_001301365.1(LYST):c.1467del (p.Glu489fs)deletion Pathogenic 3808 rs80338644 1:235972651-235972651 1:235809351-235809351
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.9333C>A (p.Tyr3111Ter)SNV Likely pathogenic 804382 1:235884188-235884188 1:235720888-235720888
47 LYST NM_000081.4(LYST):c.3170del (p.Lys1057fs)deletion Likely pathogenic 828122 1:235969266-235969266 1:235805966-235805966
48 LYST NM_000081.4(LYST):c.4862+2T>ASNV Likely pathogenic 851637 1:235950498-235950498 1:235787198-235787198
49 LYST NM_000081.4(LYST):c.4863-4G>TSNV Likely pathogenic 561991 1:235945391-235945391 1:235782091-235782091
50 LYST NM_001301365.1(LYST):c.8913T>G (p.Asn2971Lys)SNV Conflicting interpretations of pathogenicity 525179 1:235894366-235894366 1:235731066-235731066

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
11.01 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:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.91 TYR MPO HLA-DMA GUSB DCT ABCA1
2 cell surface GO:0009986 9.73 LAMP1 HLA-DMA FASLG CD63 CCR6 ABCA1
3 external side of plasma membrane GO:0009897 9.72 LAMP1 ICOSLG FASLG CCR6 ABCA1
4 azurophil granule lumen GO:0035578 9.54 SERPINA3 MPO GUSB
5 melanosome membrane GO:0033162 9.46 TYRP1 TYR RAB27A DCT
6 melanosome GO:0042470 9.43 TYRP1 TYR RAB27A LAMP1 DCT CD63
7 multivesicular body membrane GO:0032585 9.4 RAB27A CD63
8 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 9.37 BLOC1S1 ABCA1
3 melanosome organization GO:0032438 9.33 TYRP1 LYST BLOC1S1
4 melanin biosynthetic process from tyrosine GO:0006583 9.26 TYR DCT
5 melanin biosynthetic process GO:0042438 9.13 TYRP1 TYR DCT
6 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 oxidoreductase activity GO:0016491 9.35 TYRP1 TYR PRODH MPO DCT
2 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Chediak-Higashi Syndrome

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