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MCID: CHD001
MIFTS: 65

Chediak-Higashi Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases, Blood diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Chediak-Higashi Syndrome

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MalaCards integrated aliases for Chediak-Higashi Syndrome:

Name: Chediak-Higashi Syndrome 57 38 12 24 53 25 75 37 13 55 44 15 40 73 76 59 29 6
Chs 57 12 53 25 75
Oculocutaneous Albinism with Leukocyte Defect 25
Chediak-Steinbrinck-Higashi Syndrome 25
Chédiak-Higashi-Steinbrink Syndrome 59
Chediak - Steinbrinck Anomaly 12
Chediak Higashi Syndrome 53
Chédiak-Higashi Disease 59
Che 76

Characteristics:

Orphanet epidemiological data:

59
chédiak-higashi syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
chediak-higashi syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Skin diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism
Rare haematological diseases
Rare immunological diseases


Sources

Summaries for Chediak-Higashi Syndrome

About this section
NIH Rare Diseases : 53 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.

MalaCards based summary : Chediak-Higashi Syndrome, also known as chs, is related to griscelli syndrome and ocular albinism, and has symptoms including icterus, seizures and tremor. 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 nystagmus and seizures

UniProtKB/Swiss-Prot : 75 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 : 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.

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.

Wikipedia : 76 Chédiak–Higashi syndrome is a rare autosomal recessive disorder that arises from a mutation of a... more...

Description from OMIM: 214500
GeneReviews: NBK5188
Sources

Related Diseases for Chediak-Higashi Syndrome

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

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome 32.6 LYST RAB27A UNC13D
2 ocular albinism 31.8 TYR TYRP1
3 hermansky-pudlak syndrome 30.9 HPS1 TYR TYRP1
4 albinism 30.8 HPS1 TYR TYRP1
5 oculocutaneous albinism 30.7 HPS1 TYR TYRP1
6 hermansky-pudlak syndrome 1 30.6 HPS1 LYST TYR
7 hemophagocytic lymphohistiocytosis 30.6 LYST RAB27A UNC13D
8 attenuated chédiak-higashi syndrome 12.4
9 congenital hypothyroidism 11.7
10 storage pool platelet disease 11.6
11 blood group, chido/rodgers system 11.4
12 central hypoventilation syndrome, congenital 11.4
13 albinism, oculocutaneous, type ii 11.3
14 albinism, oculocutaneous, type iii 11.3
15 albinism, oculocutaneous, type ib 11.3
16 neutropenia, severe congenital, 3, autosomal recessive 11.3
17 cluster headache, familial 11.0
18 cyclic neutropenia 10.9
19 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.9
20 cluster headache 10.9
21 dowling-degos disease 1 10.5 TYR TYRP1
22 hermansky-pudlak syndrome 3 10.4 TYR TYRP1
23 dyschromatosis symmetrica hereditaria 10.4 LYST TYR TYRP1
24 retinitis 10.3
25 neuropathy 10.3
26 hemophagocytic lymphohistiocytosis, familial, 4 10.3 RAB27A UNC13D
27 macrophage activation syndrome 10.3 RAB27A UNC13D
28 bronchopneumonia 10.3 GUSB MPO
29 aging 10.3
30 lymphoma 10.3
31 peripheral nervous system disease 10.3
32 periodontitis 10.3
33 acute leukemia 10.2
34 chronic granulomatous disease 10.2
35 leukemia 10.2
36 neutropenia 10.2
37 periodontal disease 10.2
38 amyloidosis 10.2
39 gigantism 10.2
40 griscelli syndrome, type 2 10.2 LYST RAB27A UNC13D
41 hypothyroidism 10.2
42 neonatal hypothyroidism 10.2
43 dendritic cell tumor 10.1 CD207 MPO
44 ataxia-telangiectasia 10.0
45 factor xii deficiency 10.0
46 acute lymphocytic leukemia 10.0
47 hematopoietic stem cell transplantation 10.0
48 hepatitis 10.0
49 lysosomal storage disease 10.0
50 choroiditis 10.0

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



Diseases related to Chediak-Higashi Syndrome
Sources

Symptoms & Phenotypes for Chediak-Higashi Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
photophobia
strabismus
reduced visual acuity
macular hypoplasia
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

Neurologic Central Nervous System:
seizures
tremor
neurodegeneration
mental deficiency
abnormal gait
more
AbdomenSpleen:
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

Human phenotypes related to Chediak-Higashi Syndrome:

59 32 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
4 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
5 developmental regression 59 32 occasional (7.5%) Occasional (29-5%) HP:0002376
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
8 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
9 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
10 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
11 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
12 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
13 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
14 edema 59 32 frequent (33%) Frequent (79-30%) HP:0000969
15 melanocytic nevus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000995
16 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
17 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001873
18 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
19 paresthesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003401
20 rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002063
21 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
22 amblyopia 59 32 frequent (33%) Frequent (79-30%) HP:0000646
23 periodontitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000704
24 areflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001284
25 generalized hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007513
26 epistaxis 59 32 frequent (33%) Frequent (79-30%) HP:0000421
27 neutropenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001875
28 recurrent cutaneous abscess formation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100838
29 bruising susceptibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000978
30 gingival bleeding 59 32 hallmark (90%) Very frequent (99-80%) HP:0000225
31 lymphoma 59 32 frequent (33%) Frequent (79-30%) HP:0002665
32 white hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0011364
33 cerebellar atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001272
34 bradykinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002067
35 lymphadenopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002716
36 generalized hyperpigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007440
37 iris hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007730
38 abnormality of multiple cell lineages in the bone marrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0012145
39 intellectual disability 32 HP:0001249
40 gait disturbance 32 HP:0001288
41 visual impairment 32 HP:0000505
42 cranial nerve paralysis 32 HP:0006824
43 abnormality of the eye 59 Very frequent (99-80%)
44 abnormality of vision 59 Very frequent (99-80%)
45 abnormality of movement 59 Occasional (29-5%)
46 peripheral neuropathy 59 Very frequent (99-80%)
47 strabismus 32 HP:0000486
48 decreased nerve conduction velocity 32 HP:0000762
49 reduced visual acuity 32 HP:0007663
50 jaundice 32 HP:0000952

UMLS symptoms related to Chediak-Higashi Syndrome:


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

MGI Mouse Phenotypes related to Chediak-Higashi Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.14 CD207 CTSG FASLG GUSB HPS1 LYST
2 homeostasis/metabolism MP:0005376 10.11 FASLG GUSB HPS1 LYST MPO NBEA
3 immune system MP:0005387 9.97 TYR UNC13D CD207 CTSG FASLG HPS1
4 integument MP:0010771 9.86 FASLG GUSB HPS1 LYST NBEA RAB27A
5 craniofacial MP:0005382 9.85 GUSB HPS1 LYST TYR TYRP1
6 hearing/vestibular/ear MP:0005377 9.83 GUSB HPS1 LYST TYR TYRP1
7 neoplasm MP:0002006 9.55 CTSG FASLG LYST TYR TYRP1
8 pigmentation MP:0001186 9.43 TYR TYRP1 HPS1 LYST RAB27A SLC35D3
9 vision/eye MP:0005391 9.1 FASLG HPS1 LYST RAB27A TYR TYRP1
Sources

Drugs & Therapeutics for Chediak-Higashi Syndrome

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

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3,Not Applicable 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Not Applicable 50-18-0, 6055-19-2 2907
3 Alkylating Agents Phase 2, Phase 3,Not Applicable
4 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
5 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
6
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
7
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
8
Fludarabine Approved Phase 2,Not Applicable 21679-14-1, 75607-67-9 30751
9
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
10
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
11
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
12
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
13 Antifungal Agents Phase 2,Not Applicable
14 Anti-Infective Agents Phase 2,Not Applicable
15 Antilymphocyte Serum Phase 2,Not Applicable
16 Antimetabolites Phase 2,Not Applicable
17 Antimetabolites, Antineoplastic Phase 2,Not Applicable
18 Antirheumatic Agents Phase 2,Phase 1,Not Applicable
19 Calcineurin Inhibitors Phase 2,Not Applicable
20 Cyclosporins Phase 2,Phase 1,Not Applicable
21 Dermatologic Agents Phase 2,Not Applicable
22 Anti-Bacterial Agents Phase 2
23 Antibiotics, Antitubercular Phase 2
24 Antibodies Phase 2
25 Antitubercular Agents Phase 2
26 gamma-Globulins Phase 2
27 Immunoglobulins Phase 2
28 Immunoglobulins, Intravenous Phase 2
29 Rho(D) Immune Globulin Phase 2
30
Abatacept Approved Phase 1 332348-12-6 10237
31
Etoposide Approved Not Applicable 33419-42-0 36462
32
Lenograstim Approved, Investigational Not Applicable 135968-09-1
33
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
34
Mesna Approved, Investigational Not Applicable 3375-50-6 598
35
Vidarabine Approved, Investigational Not Applicable 24356-66-9 32326 21704
36
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
37
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
38
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
39
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
40
leucovorin Approved, Nutraceutical Not Applicable 58-05-9 143 6006
41 Antineoplastic Agents, Phytogenic Not Applicable
42 Etoposide phosphate Not Applicable
43 Folic Acid Antagonists Not Applicable
44 Nucleic Acid Synthesis Inhibitors Not Applicable
45 Topoisomerase Inhibitors Not Applicable
46 Vitamin B Complex Not Applicable
47 Antiviral Agents Not Applicable
48 Protective Agents Not Applicable
49 Antiemetics Not Applicable
50 Anti-Inflammatory Agents Not Applicable

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 Not Applicable 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 Not Applicable 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 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
12 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Not Applicable 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

Sources

Genetic Tests for Chediak-Higashi Syndrome

About this section

Genetic tests related to Chediak-Higashi Syndrome:

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

Anatomical Context for Chediak-Higashi Syndrome

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MalaCards organs/tissues related to Chediak-Higashi Syndrome:

41
Bone, Skin, Bone Marrow, Neutrophil, Brain, Eye, T Cells
Sources

Publications for Chediak-Higashi Syndrome

About this section

Articles related to Chediak-Higashi Syndrome:

(show top 50) (show all 362)
# Title Authors Year
1
Chediak Higashi Syndrome ( 29939658 )
2018
2
Chediak-Higashi Syndrome in Accelerated Phase. ( 29398815 )
2018
3
Living-Donor Lung Transplantation After Bone Marrow Transplantation for Chediak-Higashi Syndrome. ( 28219570 )
2017
4
A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase. ( 28355352 )
2017
5
Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients. ( 28458669 )
2017
6
A case of Chediak-Higashi syndrome presented with accelerated phase could be treated effectively by unrelated cord blood transplantation. ( 28762620 )
2017
7
Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome. ( 28145517 )
2017
8
Rare inclusion bodies within monocytes at accelerated phase of Chediak-Higashi syndrome. ( 29194041 )
2017
9
An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome. ( 29241728 )
2017
10
Ultrastructural aspects of hairs of Chediak-Higashi syndrome. ( 29224231 )
2017
11
Inflammatory demyelinating neuropathy heralding accelerated Chediak-Higashi syndrome. ( 27669550 )
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
Chediak Higashi Syndrome in Accelerated phase mascquerading as acute leukemia. ( 27093962 )
2016
14
Chediak-Higashi Syndrome: A Case Series from Karnataka, India. ( 26538743 )
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
Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review. ( 26254864 )
2015
18
Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder. ( 26816903 )
2015
19
A severe systemic presentation of pigmented villonodular synovitis in a child with underlying Chediak-Higashi syndrome. ( 25967956 )
2015
20
A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent. ( 26499269 )
2015
21
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
22
Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings. ( 26622160 )
2015
23
Allogeneic hematopoietic stem cell transplantation for Chediak-Higashi syndrome. ( 26511512 )
2015
24
Motor neuronopathy in Chediak-Higashi syndrome. ( 25043664 )
2014
25
Chediak-Higashi syndrome in accelerated phase masquerading as severe acute malnutrition. ( 24686807 )
2014
26
Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response. ( 25528552 )
2014
27
Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype. ( 24112114 )
2014
28
Towards the targeted management of Chediak-Higashi syndrome. ( 25129365 )
2014
29
Chediak-higashi syndrome presented as accelerated phase: case report and review of the literature. ( 25332584 )
2014
30
A Rare Cause of Recurrent Oral Lesions: Chediak-Higashi Syndrome. ( 25330529 )
2014
31
Chediak-higashi syndrome in accelerated phase: a rare case report with review of literature. ( 25332576 )
2014
32
Chediak-Higashi Syndrome: A Case Report of a Girl Without Silvery Hair and Oculocutaneous Albinism Presenting with Hemophagocytic Lymphohistiocytosis. ( 25541665 )
2014
33
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
34
Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism. ( 23436631 )
2013
35
A new method for rapid detection of the mutant allele for Chediak-Higashi syndrome in Japanese black cattle. ( 23615171 )
2013
36
The accelerated phase of chediak-higashi syndrome: the importance of hematological evaluation. ( 24385762 )
2013
37
Chediak-Higashi syndrome and premature exfoliation of primary teeth. ( 24474367 )
2013
38
Chediak-Higashi syndrome: pathognomonic feature. ( 23541537 )
2013
39
Mixed hyperpigmentation and hypopigmentation of iris and choroid in Chediak-Higashi syndrome. ( 24160983 )
2013
40
Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi syndrome. ( 22738378 )
2013
41
Chediak-Higashi Syndrome: Novel Mutation of the CHS1/LYST Gene in 3 Omani Patients. ( 24072239 )
2013
42
Commentary for "Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism". ( 23436632 )
2013
43
Accelerated phase of Chediak-Higashi syndrome. ( 22329017 )
2012
44
Unrelated cord blood transplantation can restore hematologic and immunologic functions in patients with Chediak-Higashi syndrome. ( 21450011 )
2012
45
Chediak-Higashi syndrome presenting in accelerated phase. ( 22868026 )
2012
46
Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. ( 22223973 )
2011
47
Clinico-hematological profile of Chediak-Higashi syndrome: experience from a tertiary care center in south India. ( 21934218 )
2011
48
Chediak-Higashi syndrome - a report of two cases with unusual hyperpigmentation of the face. ( 21935875 )
2011
49
A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome. ( 21488161 )
2011
50
Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome. ( 21878672 )
2011
Sources

Variations for Chediak-Higashi Syndrome

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

75
# 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 top 50) (show all 554)
# Gene Variation Type Significance SNP ID Assembly Location
1 LYST NM_000081.3(LYST): c.1467delG (p.Glu489Aspfs) deletion Pathogenic rs80338644 GRCh37 Chromosome 1, 235972651: 235972651
2 LYST NM_000081.3(LYST): c.1467delG (p.Glu489Aspfs) deletion Pathogenic rs80338644 GRCh38 Chromosome 1, 235809351: 235809351
3 LYST NM_000081.3(LYST): c.3310C> T (p.Arg1104Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80338652 GRCh37 Chromosome 1, 235969126: 235969126
4 LYST NM_000081.3(LYST): c.3310C> T (p.Arg1104Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80338652 GRCh38 Chromosome 1, 235805826: 235805826
5 LYST NM_000081.3(LYST): c.118_119insG (p.Ala40Glyfs) insertion Pathogenic rs80338642 GRCh37 Chromosome 1, 235993600: 235993600
6 LYST NM_000081.3(LYST): c.118_119insG (p.Ala40Glyfs) insertion Pathogenic rs80338642 GRCh38 Chromosome 1, 235830300: 235830300
7 LYST NM_000081.3(LYST): c.1902dupA (p.Ala635Serfs) duplication Pathogenic rs80338646 GRCh37 Chromosome 1, 235972216: 235972216
8 LYST NM_000081.3(LYST): c.1902dupA (p.Ala635Serfs) duplication Pathogenic rs80338646 GRCh38 Chromosome 1, 235808916: 235808916
9 LYST NM_000081.3(LYST): c.9590delA (p.Tyr3197Leufs) deletion Pathogenic rs80338667 GRCh37 Chromosome 1, 235880049: 235880049
10 LYST NM_000081.3(LYST): c.9590delA (p.Tyr3197Leufs) deletion Pathogenic rs80338667 GRCh38 Chromosome 1, 235716749: 235716749
11 LYST NM_000081.3(LYST): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic rs80338643 GRCh37 Chromosome 1, 235993570: 235993570
12 LYST NM_000081.3(LYST): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic rs80338643 GRCh38 Chromosome 1, 235830270: 235830270
13 LYST NM_000081.3(LYST): c.3085C> T (p.Gln1029Ter) single nucleotide variant Pathogenic rs80338651 GRCh37 Chromosome 1, 235969351: 235969351
14 LYST NM_000081.3(LYST): c.3085C> T (p.Gln1029Ter) single nucleotide variant Pathogenic rs80338651 GRCh38 Chromosome 1, 235806051: 235806051
15 LYST NM_000081.3(LYST): c.2623delT (p.Tyr875Metfs) deletion Pathogenic rs80338649 GRCh37 Chromosome 1, 235969813: 235969813
16 LYST NM_000081.3(LYST): c.2623delT (p.Tyr875Metfs) deletion Pathogenic rs80338649 GRCh38 Chromosome 1, 235806513: 235806513
17 LYST NM_000081.3(LYST): c.4688G> A (p.Arg1563His) single nucleotide variant Pathogenic rs80338657 GRCh37 Chromosome 1, 235952001: 235952001
18 LYST NM_000081.3(LYST): c.4688G> A (p.Arg1563His) single nucleotide variant Pathogenic rs80338657 GRCh38 Chromosome 1, 235788701: 235788701
19 LYST NM_000081.3(LYST): c.5996T> A (p.Val1999Asp) single nucleotide variant Pathogenic rs28942077 GRCh37 Chromosome 1, 235929504: 235929504
20 LYST NM_000081.3(LYST): c.5996T> A (p.Val1999Asp) single nucleotide variant Pathogenic rs28942077 GRCh38 Chromosome 1, 235766204: 235766204
21 LYST NM_000081.3(LYST): c.9107_9162del56 (p.Gly3036Glufs) deletion Pathogenic rs80338665 GRCh37 Chromosome 1, 235891376: 235891431
22 LYST NM_000081.3(LYST): c.9107_9162del56 (p.Gly3036Glufs) deletion Pathogenic rs80338665 GRCh38 Chromosome 1, 235728076: 235728131
23 LYST NM_000081.3(LYST): c.3434dupA (p.His1145Glnfs) duplication Pathogenic rs80338653 GRCh37 Chromosome 1, 235967925: 235967925
24 LYST NM_000081.3(LYST): c.3434dupA (p.His1145Glnfs) duplication Pathogenic rs80338653 GRCh38 Chromosome 1, 235804625: 235804625
25 LYST NM_000081.3(LYST): c.4052C> G (p.Ser1351Ter) single nucleotide variant Pathogenic rs80338654 GRCh37 Chromosome 1, 235956867: 235956867
26 LYST NM_000081.3(LYST): c.4052C> G (p.Ser1351Ter) single nucleotide variant Pathogenic rs80338654 GRCh38 Chromosome 1, 235793567: 235793567
27 LYST NM_000081.3(LYST): c.4274delT (p.Leu1425Tyrfs) deletion Pathogenic rs80338656 GRCh37 Chromosome 1, 235955268: 235955268
28 LYST NM_000081.3(LYST): c.4274delT (p.Leu1425Tyrfs) deletion Pathogenic rs80338656 GRCh38 Chromosome 1, 235791968: 235791968
29 LYST NM_000081.3(LYST): c.4361C> A (p.Ala1454Asp) single nucleotide variant Pathogenic rs80338655 GRCh37 Chromosome 1, 235955181: 235955181
30 LYST NM_000081.3(LYST): c.4361C> A (p.Ala1454Asp) single nucleotide variant Pathogenic rs80338655 GRCh38 Chromosome 1, 235791881: 235791881
31 LYST NM_000081.3(LYST): c.10127A> G (p.Asn3376Ser) single nucleotide variant Pathogenic rs80338669 GRCh37 Chromosome 1, 235872407: 235872407
32 LYST NM_000081.3(LYST): c.10127A> G (p.Asn3376Ser) single nucleotide variant Pathogenic rs80338669 GRCh38 Chromosome 1, 235709107: 235709107
33 LYST NM_000081.3(LYST): c.10395delA (p.Gly3466Alafs) deletion Pathogenic rs80338670 GRCh37 Chromosome 1, 235860552: 235860552
34 LYST NM_000081.3(LYST): c.10395delA (p.Gly3466Alafs) deletion Pathogenic rs80338670 GRCh38 Chromosome 1, 235697252: 235697252
35 LYST NM_000081.3(LYST): c.1540C> T (p.Arg514Ter) single nucleotide variant Pathogenic rs80338645 GRCh37 Chromosome 1, 235972578: 235972578
36 LYST NM_000081.3(LYST): c.1540C> T (p.Arg514Ter) single nucleotide variant Pathogenic rs80338645 GRCh38 Chromosome 1, 235809278: 235809278
37 LYST NM_000081.3(LYST): c.2413delG (p.Glu805Asnfs) deletion Pathogenic rs80338647 GRCh37 Chromosome 1, 235970023: 235970023
38 LYST NM_000081.3(LYST): c.2413delG (p.Glu805Asnfs) deletion Pathogenic rs80338647 GRCh38 Chromosome 1, 235806723: 235806723
39 LYST NM_000081.3(LYST): c.2454delA (p.Ala819Hisfs) deletion Pathogenic rs80338648 GRCh37 Chromosome 1, 235969982: 235969982
40 LYST NM_000081.3(LYST): c.2454delA (p.Ala819Hisfs) deletion Pathogenic rs80338648 GRCh38 Chromosome 1, 235806682: 235806682
41 LYST NM_000081.3(LYST): c.3073_3074delAA (p.Asn1025Glnfs) deletion Pathogenic rs80338650 GRCh37 Chromosome 1, 235969362: 235969363
42 LYST NM_000081.3(LYST): c.3073_3074delAA (p.Asn1025Glnfs) deletion Pathogenic rs80338650 GRCh38 Chromosome 1, 235806062: 235806063
43 LYST NM_000081.3(LYST): c.5061T> A (p.Tyr1687Ter) single nucleotide variant Pathogenic rs80338658 GRCh37 Chromosome 1, 235944318: 235944318
44 LYST NM_000081.3(LYST): c.5061T> A (p.Tyr1687Ter) single nucleotide variant Pathogenic rs80338658 GRCh38 Chromosome 1, 235781018: 235781018
45 LYST NM_000081.3(LYST): c.5317delA (p.Arg1773Aspfs) deletion Pathogenic rs80338659 GRCh37 Chromosome 1, 235940506: 235940506
46 LYST NM_000081.3(LYST): c.5317delA (p.Arg1773Aspfs) deletion Pathogenic rs80338659 GRCh38 Chromosome 1, 235777206: 235777206
47 LYST NM_000081.3(LYST): c.6078C> A (p.Tyr2026Ter) single nucleotide variant Pathogenic rs80338660 GRCh37 Chromosome 1, 235929422: 235929422
48 LYST NM_000081.3(LYST): c.6078C> A (p.Tyr2026Ter) single nucleotide variant Pathogenic rs80338660 GRCh38 Chromosome 1, 235766122: 235766122
49 LYST NM_000081.3(LYST): c.7060_7066delCTATTAG (p.Leu2354Metfs) deletion Pathogenic rs80338661 GRCh37 Chromosome 1, 235918941: 235918947
50 LYST NM_000081.3(LYST): c.7060_7066delCTATTAG (p.Leu2354Metfs) deletion Pathogenic rs80338661 GRCh38 Chromosome 1, 235755641: 235755647
Sources

Expression for Chediak-Higashi Syndrome

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

Pathways for Chediak-Higashi Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Deregulation of Rab and Rab Effector Genes in Bladder Cancer 1
10.36 RAB27A UNC13D
2
wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) 22
10.03 RAB27A UNC13D
3
Melanin biosynthesis 66
9.32 TYR TYRP1
Sources

GO Terms for Chediak-Higashi Syndrome

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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 CTSG GUSB MPO TYR UNC13D
2 secretory granule GO:0030141 9.54 CTSG MPO RAB27A
3 melanosome GO:0042470 9.5 RAB27A TYR TYRP1
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 defense response to bacterium GO:0042742 9.71 CTSG LYST MPO
2 response to lipopolysaccharide GO:0032496 9.69 CTSG FASLG MPO
3 defense response to virus GO:0051607 9.67 CD207 LYST UNC13D
4 neutrophil degranulation GO:0043312 9.55 CTSG GUSB MPO RAB27A UNC13D
5 lysosome organization GO:0007040 9.52 HPS1 LYST
6 defense response to fungus GO:0050832 9.48 CTSG MPO
7 positive regulation of exocytosis GO:0045921 9.46 RAB27A UNC13D
8 melanosome organization GO:0032438 9.43 LYST TYRP1
9 melanocyte differentiation GO:0030318 9.4 RAB27A TYRP1
10 negative regulation of growth of symbiont in host GO:0044130 9.37 CTSG MPO
11 melanin biosynthetic process GO:0042438 9.32 TYR TYRP1
12 natural killer cell degranulation GO:0043320 9.26 RAB27A UNC13D
13 positive regulation of regulated secretory pathway GO:1903307 8.96 RAB27A UNC13D
14 pigmentation GO:0043473 8.92 LYST RAB27A TYR TYRP1
Sources

Sources for Chediak-Higashi Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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