MCID: CHD001
MIFTS: 67

Chediak-Higashi Syndrome

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

Aliases & Classifications for Chediak-Higashi Syndrome

MalaCards integrated aliases for Chediak-Higashi Syndrome:

Name: Chediak-Higashi Syndrome 53 37 12 23 49 24 71 36 13 51 41 14 69 72 55 28
Chs 53 12 49 24 71
Oculocutaneous Albinism with Leukocyte Defect 24
Chediak-Steinbrinck-Higashi Syndrome 24
Chédiak-Higashi-Steinbrink Syndrome 55
Chediak - Steinbrinck Anomaly 12
Chediak Higashi Syndrome 49
Chédiak-Higashi Disease 55
Che 72

Characteristics:

Orphanet epidemiological data:

55
chédiak-higashi syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
chediak-higashi syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Chediak-Higashi Syndrome

NIH Rare Diseases : 49 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 chs, is related to griscelli syndrome and dowling-degos disease 1, and has symptoms including ataxia, edema and fever. An important gene associated with Chediak-Higashi Syndrome is LYST (Lysosomal Trafficking Regulator), and among its related pathways/superpathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer and wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow, and related phenotypes are hematopoietic system and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 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).

Genetics Home Reference : 24 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.

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

Description 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 74)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome 32.5 LYST RAB27A UNC13D
2 dowling-degos disease 1 30.9 TYR TYRP1
3 hermansky-pudlak syndrome 30.8 HPS1 TYR TYRP1
4 albinism 30.7 HPS1 TYR TYRP1
5 hemophagocytic lymphohistiocytosis 30.5 LYST RAB27A UNC13D
6 hermansky-pudlak syndrome 1 30.4 HPS1 LYST TYR
7 attenuated chédiak-higashi syndrome 12.4
8 congenital hypothyroidism 11.7
9 storage pool platelet disease 11.6
10 blood group, chido/rodgers system 11.4
11 central hypoventilation syndrome, congenital 11.4
12 albinism, oculocutaneous, type ii 11.3
13 albinism, oculocutaneous, type iii 11.3
14 ocular albinism 11.3
15 albinism immunodeficiency 11.3
16 hypomelanotic disorder 11.3
17 albinism, oculocutaneous, type ib 11.3
18 neutropenia, severe congenital, 3, autosomal recessive 11.3
19 cluster headache, familial 11.0
20 cyclic neutropenia 10.9
21 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.9
22 cluster headache 10.9
23 tyrosinase-like 10.4 TYR TYRP1
24 retinitis 10.4
25 neuropathy 10.4
26 amelanotic melanoma 10.3 TYR TYRP1
27 cataract 32, multiple types 10.3
28 aging 10.3
29 leukemia 10.3
30 lymphoma 10.3
31 periodontitis 10.3
32 dyschromatosis symmetrica hereditaria 10.2 LYST TYR TYRP1
33 dilution, pigmentary 10.2
34 acute leukemia 10.2
35 chronic granulomatous disease 10.2
36 neutropenia 10.2
37 oculocutaneous albinism 10.2
38 periodontal disease 10.2
39 amyloidosis 10.2
40 gigantism 10.2
41 hypothyroidism 10.2
42 hermansky-pudlak syndrome 3 10.2 TYR TYRP1
43 hemophagocytic lymphohistiocytosis, familial, 4 10.2 RAB27A UNC13D
44 macrophage activation syndrome 10.2 RAB27A UNC13D
45 bronchopneumonia 10.1 GUSB MPO
46 griscelli syndrome, type 2 10.1 LYST RAB27A UNC13D
47 blood group, i system 10.1
48 factor xii deficiency 10.1
49 acute lymphocytic leukemia 10.1
50 hematopoietic stem cell transplantation 10.1

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



Diseases related to Chediak-Higashi Syndrome

Symptoms & Phenotypes for Chediak-Higashi Syndrome

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
seizures
tremor
neurodegeneration
mental deficiency
abnormal gait
more
MuscleSoftTissue:
muscle weakness
giant granules in muscle cells

AbdomenLiver:
hepatomegaly
jaundice

SkinNailsHairSkin:
jaundice
mild/severe skin hypopigmentation

SkinNailsHairSkinHistology:
giant melanosomes in melanocytes

SkinNailsHairHair:
mild hair hypopigmentation

HeadAndNeckEyes:
photophobia
nystagmus
strabismus
reduced visual acuity
macular hypoplasia
more
AbdomenSpleen:
splenomegaly

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

HeadAndNeckMouth:
gingivitis
pseudomembranous sloughing of buccal mucosa

NeurologicPeripheralNervousSystem:
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

Human phenotypes related to Chediak-Higashi Syndrome:

55 31 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001251
2 edema 55 31 frequent (33%) Frequent (79-30%) HP:0000969
3 fever 55 31 hallmark (90%) Very frequent (99-80%) HP:0001945
4 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
5 tremor 55 31 frequent (33%) Frequent (79-30%) HP:0001337
6 photophobia 55 31 frequent (33%) Frequent (79-30%) HP:0000613
7 bradykinesia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002067
8 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
9 developmental regression 55 31 occasional (7.5%) Occasional (29-5%) HP:0002376
10 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
11 splenomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001744
12 recurrent respiratory infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0002205
13 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
14 immunodeficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0002721
15 anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001903
16 melanocytic nevus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000995
17 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001631
18 thrombocytopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001873
19 skin ulcer 55 31 hallmark (90%) Very frequent (99-80%) HP:0200042
20 paresthesia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003401
21 rigidity 55 31 occasional (7.5%) Occasional (29-5%) HP:0002063
22 gastrointestinal hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002239
23 amblyopia 55 31 frequent (33%) Frequent (79-30%) HP:0000646
24 periodontitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000704
25 areflexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001284
26 generalized hypopigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007513
27 epistaxis 55 31 frequent (33%) Frequent (79-30%) HP:0000421
28 neutropenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001875
29 recurrent cutaneous abscess formation 55 31 hallmark (90%) Very frequent (99-80%) HP:0100838
30 bruising susceptibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0000978
31 gingival bleeding 55 31 hallmark (90%) Very frequent (99-80%) HP:0000225
32 lymphoma 55 31 frequent (33%) Frequent (79-30%) HP:0002665
33 white hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0011364
34 cerebellar atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001272
35 lymphadenopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0002716
36 generalized hyperpigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007440
37 iris hypopigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007730
38 abnormality of multiple cell lineages in the bone marrow 55 31 hallmark (90%) Very frequent (99-80%) HP:0012145
39 abnormality of extrapyramidal motor function 55 Occasional (29-5%)
40 intellectual disability 31 HP:0001249
41 gait disturbance 31 HP:0001288
42 visual impairment 31 HP:0000505
43 cranial nerve paralysis 31 HP:0006824
44 abnormality of the eye 55 Very frequent (99-80%)
45 abnormality of vision 55 Very frequent (99-80%)
46 abnormality of movement 55 Occasional (29-5%)
47 peripheral neuropathy 55 Very frequent (99-80%)
48 strabismus 31 HP:0000486
49 decreased nerve conduction velocity 31 HP:0000762
50 reduced visual acuity 31 HP:0007663

UMLS symptoms related to Chediak-Higashi Syndrome:


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

MGI Mouse Phenotypes related to Chediak-Higashi Syndrome:

43 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.24 ABCA1 CD207 CTSG FASLG GUSB HPS1
2 homeostasis/metabolism MP:0005376 10.22 ABCA1 FASLG GUSB HPS1 LYST MPO
3 immune system MP:0005387 10.16 FASLG HPS1 LYST MPO RAB27A TYR
4 cellular MP:0005384 10.14 RAB27A TYR TYRP1 ABCA1 FASLG GUSB
5 mortality/aging MP:0010768 10.1 ABCA1 CTSG FASLG GUSB HPS1 LYST
6 endocrine/exocrine gland MP:0005379 10.07 ABCA1 FASLG GUSB LYST NBEA RAB27A
7 integument MP:0010771 10.03 FASLG GUSB HPS1 LYST NBEA RAB27A
8 nervous system MP:0003631 9.92 ABCA1 FASLG LYST NBEA RAB27A TYR
9 hearing/vestibular/ear MP:0005377 9.91 GUSB HPS1 LYST TYR TYRP1
10 neoplasm MP:0002006 9.77 CTSG FASLG LYST TYR TYRP1
11 pigmentation MP:0001186 9.73 ABCA1 HPS1 LYST RAB27A TYR TYRP1
12 renal/urinary system MP:0005367 9.63 ABCA1 FASLG GUSB HPS1 LYST TYR
13 respiratory system MP:0005388 9.43 HPS1 LYST NBEA RAB27A ABCA1 FASLG
14 vision/eye MP:0005391 9.17 HPS1 LYST RAB27A TYR TYRP1 ABCA1

Drugs & Therapeutics for Chediak-Higashi Syndrome

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

(show top 50) (show all 66)
# 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 Alkylating Agents Phase 2, Phase 3
4 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
5
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
6
alemtuzumab Approved, Investigational Phase 2 216503-57-0
7
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
8
Melphalan Approved Phase 2 148-82-3 460612 4053
9
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
10
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
11 Thiotepa Approved, Investigational Phase 2 52-24-4 5453
12 Antifungal Agents Phase 2
13 Anti-Infective Agents Phase 2
14 Antilymphocyte Serum Phase 2
15 Antimetabolites Phase 2
16 Antimetabolites, Antineoplastic Phase 2
17 Antirheumatic Agents Phase 2,Phase 1
18 Calcineurin Inhibitors Phase 2
19 Cyclosporins Phase 2,Phase 1
20 Dermatologic Agents Phase 2
21 Anti-Bacterial Agents Phase 2
22 Antibiotics, Antitubercular Phase 2
23 Antibodies Phase 2
24 Antitubercular Agents Phase 2
25 gamma-Globulins Phase 2
26 Immunoglobulins Phase 2
27 Immunoglobulins, Intravenous Phase 2
28 Rho(D) Immune Globulin Phase 2
29
Abatacept Approved Phase 1 332348-12-6 10237
30
Etoposide Approved 33419-42-0 36462
31
Lenograstim Approved, Investigational 135968-09-1
32
Methotrexate Approved 1959-05-2, 59-05-2 126941
33
Mesna Approved, Investigational 3375-50-6 598
34
Vidarabine Approved, Investigational 24356-66-9 21704 32326
35
Methylprednisolone Approved, Vet_approved 83-43-2 6741
36
Prednisolone Approved, Vet_approved 50-24-8 5755
37
Prednisone Approved, Vet_approved 53-03-2 5865
38
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
39
leucovorin Approved, Nutraceutical 58-05-9 143 6006
40 Antineoplastic Agents, Phytogenic
41 Etoposide phosphate
42 Folic Acid Antagonists
43 Nucleic Acid Synthesis Inhibitors
44 Topoisomerase Inhibitors
45 Vitamin B Complex
46 Antiviral Agents
47 Protective Agents
48 Antiemetics
49 Anti-Inflammatory Agents
50 Antineoplastic Agents, Hormonal

Interventional clinical trials:

(show all 12)

# Name Status NCT ID Phase Drugs
1 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Terminated NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
2 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
3 Stem Cell Transplant for Immunologic or Histiocytic Disorders Completed NCT00176865 Phase 2 Fludarabine;Melphalan;Anti-thymocyte globulin (ATG);Campath 1H;Cyclosporin A;Mycophenolate mofetil;Intravenous immunoglobulin (IVIG)
4 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
5 BMT Abatacept for Non-Malignant Diseases Recruiting 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 Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders Completed NCT00005933
8 Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476
9 Study of Chediak-Higashi Syndrome Recruiting NCT00005917
10 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
11 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
12 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation 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:
Bone marrow-derived hematopoietic stem cells (family)
Umbilical cord blood-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 28 LYST

Anatomical Context for Chediak-Higashi Syndrome

MalaCards organs/tissues related to Chediak-Higashi Syndrome:

38
Bone, Skin, Bone Marrow, Neutrophil, Brain, Eye, T Cells

Publications for Chediak-Higashi Syndrome

Articles related to Chediak-Higashi Syndrome:

(show top 50) (show all 359)
# Title Authors Year
1
Chediak-Higashi Syndrome in Accelerated Phase. ( 29398815 )
2018
2
A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase. ( 28355352 )
2017
3
Living-Donor Lung Transplantation After Bone Marrow Transplantation for Chediak-Higashi Syndrome. ( 28219570 )
2017
4
A case of Chediak-Higashi syndrome presented with accelerated phase could be treated effectively by unrelated cord blood transplantation. ( 28762620 )
2017
5
An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome. ( 29241728 )
2017
6
Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome. ( 28145517 )
2017
7
Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients. ( 28458669 )
2017
8
Rare inclusion bodies within monocytes at accelerated phase of Chediak-Higashi syndrome. ( 29194041 )
2017
9
Ultrastructural aspects of hairs of Chediak-Higashi syndrome. ( 29224231 )
2017
10
Inflammatory demyelinating neuropathy heralding accelerated Chediak-Higashi syndrome. ( 27669550 )
2016
11
Chediak Higashi Syndrome in Accelerated phase mascquerading as acute leukemia. ( 27093962 )
2016
12
Oral rehabilitation of patients with Chediak-Higashi syndrome using zygoma and root form implant-supported fixed prostheses: A report of two patients. ( 27492987 )
2016
13
Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder. ( 26816903 )
2015
14
Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review. ( 26254864 )
2015
15
Successful stem cell transplantation in Chediak-Higashi syndrome. ( 25609327 )
2015
16
Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells. ( 26478006 )
2015
17
A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent. ( 26499269 )
2015
18
Chediak-Higashi Syndrome: A Case Series from Karnataka, India. ( 26538743 )
2015
19
Allogeneic hematopoietic stem cell transplantation for Chediak-Higashi syndrome. ( 26511512 )
2015
20
A severe systemic presentation of pigmented villonodular synovitis in a child with underlying Chediak-Higashi syndrome. ( 25967956 )
2015
21
Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings. ( 26622160 )
2015
22
Infantile hemophagocytic lymphohistiocytosis in a case of chediak-higashi syndrome caused by a mutation in the LYST/CHS1 gene presenting with delayed umbilical cord detachment and diarrhea. ( 25551669 )
2015
23
Towards the targeted management of Chediak-Higashi syndrome. ( 25129365 )
2014
24
A Rare Cause of Recurrent Oral Lesions: Chediak-Higashi Syndrome. ( 25330529 )
2014
25
Chediak-higashi syndrome presented as accelerated phase: case report and review of the literature. ( 25332584 )
2014
26
Chediak-higashi syndrome in accelerated phase: a rare case report with review of literature. ( 25332576 )
2014
27
Chediak-Higashi Syndrome: A Case Report of a Girl Without Silvery Hair and Oculocutaneous Albinism Presenting with Hemophagocytic Lymphohistiocytosis. ( 25541665 )
2014
28
Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response. ( 25528552 )
2014
29
Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype. ( 24112114 )
2014
30
Chediak-Higashi syndrome in accelerated phase masquerading as severe acute malnutrition. ( 24686807 )
2014
31
Enhanced diacylglycerol production by phospholipase D activation is responsible for abnormal increase in concanavalin A cap formation in polymorphonuclear leukocytes from Chediak-Higashi syndrome (beige) mice. ( 24830864 )
2014
32
Motor neuronopathy in Chediak-Higashi syndrome. ( 25043664 )
2014
33
Commentary for "Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism". ( 23436632 )
2013
34
Chediak-Higashi syndrome and premature exfoliation of primary teeth. ( 24474367 )
2013
35
The accelerated phase of chediak-higashi syndrome: the importance of hematological evaluation. ( 24385762 )
2013
36
Mixed hyperpigmentation and hypopigmentation of iris and choroid in Chediak-Higashi syndrome. ( 24160983 )
2013
37
Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism. ( 23436631 )
2013
38
A new method for rapid detection of the mutant allele for Chediak-Higashi syndrome in Japanese black cattle. ( 23615171 )
2013
39
Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi syndrome. ( 22738378 )
2013
40
Chediak-Higashi syndrome: pathognomonic feature. ( 23541537 )
2013
41
Chediak-Higashi Syndrome: Novel Mutation of the CHS1/LYST Gene in 3 Omani Patients. ( 24072239 )
2013
42
Accelerated phase of Chediak-Higashi syndrome. ( 22329017 )
2012
43
Unrelated cord blood transplantation can restore hematologic and immunologic functions in patients with Chediak-Higashi syndrome. ( 21450011 )
2012
44
Chediak-Higashi syndrome presenting in accelerated phase. ( 22868026 )
2012
45
Do you know this syndrome? Chediak-Higashi syndrome. ( 22147054 )
2011
46
Chediak-Higashi syndrome - a report of two cases with unusual hyperpigmentation of the face. ( 21935875 )
2011
47
Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. ( 22223973 )
2011
48
Clinico-hematological profile of Chediak-Higashi syndrome: experience from a tertiary care center in south India. ( 21934218 )
2011
49
Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome. ( 21878672 )
2011
50
Rituximab and cyclosporine therapy for accelerated phase Chediak-Higashi syndrome. ( 21681939 )
2011

Variations for Chediak-Higashi Syndrome

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

71
# 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

ClinVar genetic disease variations for Chediak-Higashi Syndrome:

6 (show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 LYST NM_000081.3(LYST): c.9107_9162del56 (p.Gly3036Glufs) deletion Pathogenic rs80338665 GRCh37 Chromosome 1, 235891376: 235891431
2 LYST NM_000081.3(LYST): c.10127A> G (p.Asn3376Ser) single nucleotide variant Pathogenic rs80338669 GRCh37 Chromosome 1, 235872407: 235872407
3 LYST NM_000081.3(LYST): c.10395delA (p.Gly3466Alafs) deletion Pathogenic rs80338670 GRCh37 Chromosome 1, 235860552: 235860552
4 LYST NM_000081.3(LYST): c.1540C> T (p.Arg514Ter) single nucleotide variant Pathogenic rs80338645 GRCh37 Chromosome 1, 235972578: 235972578
5 LYST NM_000081.3(LYST): c.2413delG (p.Glu805Asnfs) deletion Pathogenic rs80338647 GRCh37 Chromosome 1, 235970023: 235970023
6 LYST NM_000081.3(LYST): c.2454delA (p.Ala819Hisfs) deletion Pathogenic rs80338648 GRCh37 Chromosome 1, 235969982: 235969982
7 LYST NM_000081.3(LYST): c.3073_3074delAA (p.Asn1025Glnfs) deletion Pathogenic rs80338650 GRCh37 Chromosome 1, 235969362: 235969363
8 LYST NM_000081.3(LYST): c.3434dupA (p.His1145Glnfs) duplication Pathogenic rs80338653 GRCh37 Chromosome 1, 235967925: 235967925
9 LYST NM_000081.3(LYST): c.4052C> G (p.Ser1351Ter) single nucleotide variant Pathogenic rs80338654 GRCh37 Chromosome 1, 235956867: 235956867
10 LYST NM_000081.3(LYST): c.4274delT (p.Leu1425Tyrfs) deletion Pathogenic rs80338656 GRCh37 Chromosome 1, 235955268: 235955268
11 LYST NM_000081.3(LYST): c.4361C> A (p.Ala1454Asp) single nucleotide variant Pathogenic rs80338655 GRCh37 Chromosome 1, 235955181: 235955181
12 LYST NM_000081.3(LYST): c.5061T> A (p.Tyr1687Ter) single nucleotide variant Pathogenic rs80338658 GRCh37 Chromosome 1, 235944318: 235944318
13 LYST NM_000081.3(LYST): c.5317delA (p.Arg1773Aspfs) deletion Pathogenic rs80338659 GRCh37 Chromosome 1, 235940506: 235940506
14 LYST NM_000081.3(LYST): c.6078C> A (p.Tyr2026Ter) single nucleotide variant Pathogenic rs80338660 GRCh37 Chromosome 1, 235929422: 235929422
15 LYST NM_000081.3(LYST): c.7060_7066delCTATTAG (p.Leu2354Metfs) deletion Pathogenic rs80338661 GRCh37 Chromosome 1, 235918941: 235918947
16 LYST NM_000081.3(LYST): c.7555delT (p.Tyr2519Ilefs) deletion Pathogenic rs80338662 GRCh37 Chromosome 1, 235915377: 235915377
17 LYST NM_000081.3(LYST): c.8428G> A (p.Glu2810Lys) single nucleotide variant Pathogenic rs80338663 GRCh37 Chromosome 1, 235897890: 235897890
18 LYST NM_000081.3(LYST): c.8583G> A (p.Trp2861Ter) single nucleotide variant Pathogenic rs80338664 GRCh37 Chromosome 1, 235897159: 235897159
19 LYST NM_000081.3(LYST): c.9228_9229insTTCTTTCAGT (p.Lys3077Phefs) insertion Pathogenic rs80338666 GRCh37 Chromosome 1, 235887414: 235887415
20 LYST NM_000081.3(LYST): c.9893delT (p.Phe3298Serfs) deletion Pathogenic rs80338668 GRCh37 Chromosome 1, 235875389: 235875389
21 LYST NM_000081.3(LYST): c.11173G> A (p.Gly3725Arg) single nucleotide variant Pathogenic rs797044542 GRCh37 Chromosome 1, 235827787: 235827787
22 LYST NM_000081.3(LYST): c.9827_9832delATACAA (p.Asn3276_Thr3277del) deletion Pathogenic rs797044540 GRCh37 Chromosome 1, 235875450: 235875455
23 LYST NM_000081.3(LYST): c.8281A> T (p.Arg2761Ter) single nucleotide variant Pathogenic rs797044539 GRCh37 Chromosome 1, 235904799: 235904799
24 LYST NM_000081.3(LYST): c.7982C> G (p.Ser2661Ter) single nucleotide variant Pathogenic rs797044538 GRCh37 Chromosome 1, 235907448: 235907448
25 LYST NM_000081.3(LYST): c.5541_5542delAA (p.Arg1848Serfs) deletion Pathogenic rs797044537 GRCh37 Chromosome 1, 235938305: 235938306
26 LYST NM_000081.3(LYST): c.5506C> T (p.Arg1836Ter) single nucleotide variant Pathogenic rs757222354 GRCh37 Chromosome 1, 235938341: 235938341
27 LYST NM_000081.3(LYST): c.3944dupC (p.Val1316Cysfs) duplication Pathogenic rs797044536 GRCh37 Chromosome 1, 235963682: 235963682
28 LYST NM_000081.3(LYST): c.3622C> T (p.Gln1208Ter) single nucleotide variant Pathogenic rs797044535 GRCh37 Chromosome 1, 235966298: 235966298
29 LYST NM_000081.3(LYST): c.925C> T (p.Arg309Ter) single nucleotide variant Pathogenic rs370022675 GRCh37 Chromosome 1, 235973193: 235973193
30 LYST NM_000081.3(LYST): c.772T> C (p.Cys258Arg) single nucleotide variant Pathogenic rs797044534 GRCh37 Chromosome 1, 235973346: 235973346
31 LYST NM_000081.3(LYST): c.11102G> T (p.Cys3701Phe) single nucleotide variant Pathogenic rs797044541 GRCh37 Chromosome 1, 235827858: 235827858
32 LYST NM_000081.3(LYST): c.1467delG (p.Glu489Aspfs) deletion Pathogenic rs80338644 GRCh37 Chromosome 1, 235972651: 235972651
33 LYST NM_000081.3(LYST): c.3310C> T (p.Arg1104Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80338652 GRCh37 Chromosome 1, 235969126: 235969126
34 LYST NM_000081.3(LYST): c.118_119insG (p.Ala40Glyfs) insertion Pathogenic rs80338642 GRCh37 Chromosome 1, 235993600: 235993600
35 LYST NM_000081.3(LYST): c.1902dupA (p.Ala635Serfs) duplication Pathogenic rs80338646 GRCh37 Chromosome 1, 235972216: 235972216
36 LYST NM_000081.3(LYST): c.9590delA (p.Tyr3197Leufs) deletion Pathogenic rs80338667 GRCh37 Chromosome 1, 235880049: 235880049
37 LYST NM_000081.3(LYST): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic rs80338643 GRCh37 Chromosome 1, 235993570: 235993570
38 LYST NM_000081.3(LYST): c.3085C> T (p.Gln1029Ter) single nucleotide variant Pathogenic rs80338651 GRCh37 Chromosome 1, 235969351: 235969351
39 LYST NM_000081.3(LYST): c.2623delT (p.Tyr875Metfs) deletion Pathogenic rs80338649 GRCh37 Chromosome 1, 235969813: 235969813
40 LYST NM_000081.3(LYST): c.4688G> A (p.Arg1563His) single nucleotide variant Pathogenic rs80338657 GRCh37 Chromosome 1, 235952001: 235952001
41 LYST NM_000081.3(LYST): c.5996T> A (p.Val1999Asp) single nucleotide variant Pathogenic rs28942077 GRCh37 Chromosome 1, 235929504: 235929504
42 LYST NM_000081.3(LYST): c.8802-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 1, 235894479: 235894479

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 10.36 RAB27A UNC13D
2 10.03 RAB27A UNC13D
3 9.32 TYR TYRP1

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 9.83 ABCA1 GUSB MPO TYR UNC13D
2 melanosome GO:0042470 9.54 RAB27A TYR TYRP1
3 secretory granule GO:0030141 9.5 CTSG MPO RAB27A
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.46 CD207 TYRP1
5 azurophil granule lumen GO:0035578 9.46 CTSG GUSB MPO UNC13D
6 exocytic vesicle GO:0070382 9.4 RAB27A UNC13D
7 Weibel-Palade body GO:0033093 9.26 RAB27A UNC13D
8 lysosome GO:0005764 9.17 FASLG GUSB HPS1 MPO RAB27A TYR
9 melanosome membrane GO:0033162 9.13 RAB27A TYR TYRP1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.72 CTSG GUSB MPO RAB27A UNC13D
2 defense response to bacterium GO:0042742 9.71 CTSG LYST MPO
3 response to lipopolysaccharide GO:0032496 9.7 CTSG FASLG MPO
4 defense response to virus GO:0051607 9.69 CD207 LYST UNC13D
5 defense response to fungus GO:0050832 9.49 CTSG MPO
6 positive regulation of exocytosis GO:0045921 9.48 RAB27A UNC13D
7 melanosome organization GO:0032438 9.46 LYST TYRP1
8 melanocyte differentiation GO:0030318 9.43 RAB27A TYRP1
9 negative regulation of growth of symbiont in host GO:0044130 9.4 CTSG MPO
10 melanin biosynthetic process GO:0042438 9.37 TYR TYRP1
11 natural killer cell degranulation GO:0043320 9.26 RAB27A UNC13D
12 positive regulation of regulated secretory pathway GO:1903307 9.16 RAB27A UNC13D
13 lysosome organization GO:0007040 9.13 ABCA1 HPS1 LYST
14 pigmentation GO:0043473 8.92 LYST RAB27A TYR TYRP1

Sources for Chediak-Higashi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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