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CHS
MCID: CHD001
MIFTS: 67

Chediak-Higashi Syndrome (CHS)

Categories: Blood diseases, Eye diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin 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 58 39 12 77 77 25 54 26 76 38 13 56 45 15 41 74
Chs 58 12 54 26 76 15
Chédiak-Higashi Syndrome 60 30 6
Oculocutaneous Albinism with Leukocyte Defect 26
Chediak-Steinbrinck-Higashi Syndrome 26
Chédiak-Higashi-Steinbrink Syndrome 60
Chediak - Steinbrinck Anomaly 12
Chediak Higashi Syndrome 54
Chédiak-Higashi Disease 60
Che 77

Characteristics:

Orphanet epidemiological data:

60
chédiak-higashi syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
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 Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
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 : 54 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 albinism, oculocutaneous, type ib, and has symptoms including seizures, muscle weakness and tremor. An important gene associated with Chediak-Higashi Syndrome is LYST (Lysosomal Trafficking Regulator), and among its related pathways/superpathways are NF-kappaB Signaling and Lysosome. The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow, and related phenotypes are global developmental delay and splenomegaly

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.

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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 : 77 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 159)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome 32.7 IL10 LYST RAB27A
2 albinism, oculocutaneous, type ib 32.6 TYR TYRP1
3 albinism 31.0 HPS1 TYR TYRP1
4 hermansky-pudlak syndrome 31.0 CD63 HPS1 TYR TYRP1
5 oculocutaneous albinism 30.7 CD63 HPS1 TYR TYRP1
6 hermansky-pudlak syndrome 1 30.7 HPS1 LYST TYR
7 hemophagocytic lymphohistiocytosis 30.5 IL10 LAMP1 LYST RAB27A
8 attenuated chédiak-higashi syndrome 12.5
9 congenital hypothyroidism 11.9
10 storage pool platelet disease 11.8
11 blood group, chido/rodgers system 11.6
12 central hypoventilation syndrome, congenital 11.5
13 neutropenia, severe congenital, 3, autosomal recessive 11.5
14 cluster headache 11.4
15 cluster headache, familial 11.2
16 cyclic neutropenia 11.1
17 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.1
18 neuropathy 10.5
19 leukemia 10.5
20 lymphoma 10.5
21 peripheral nervous system disease 10.5
22 acute leukemia 10.4
23 chronic granulomatous disease 10.4
24 neutropenia 10.4
25 periodontal disease 10.4
26 amyloidosis 10.4
27 gigantism 10.4
28 horns in sheep 10.4
29 pontocerebellar hypoplasia 10.4
30 hypothyroidism 10.3
31 neonatal hypothyroidism 10.3
32 albinism, oculocutaneous, type iii 10.3 TYR TYRP1
33 pemphigus foliaceus 10.3
34 vitiligo-associated multiple autoimmune disease susceptibility 6 10.3 TYR TYRP1
35 albinism, oculocutaneous, type v 10.2 TYR TYRP1
36 ataxia-telangiectasia 10.2
37 factor xii deficiency 10.2
38 letterer-siwe disease 10.2
39 acute lymphocytic leukemia 10.2
40 hematopoietic stem cell transplantation 10.2
41 lysosomal storage disease 10.2
42 bone resorption disease 10.2
43 lymphocytic leukemia 10.2
44 abducens nerve disease 10.2
45 diarrhea 10.2
46 blood platelet disease 10.2
47 pigmented villonodular synovitis 10.2
48 synovitis 10.2
49 movement disease 10.2
50 periodontitis 10.2

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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Human phenotypes related to Chediak-Higashi Syndrome:

60 33 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
2 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
3 recurrent respiratory infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002205
4 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
5 fever 60 33 hallmark (90%) Very frequent (99-80%) HP:0001945
6 immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002721
7 anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001903
8 thrombocytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001873
9 skin ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0200042
10 paresthesia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003401
11 periodontitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000704
12 areflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001284
13 generalized hypopigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007513
14 neutropenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001875
15 recurrent cutaneous abscess formation 60 33 hallmark (90%) Very frequent (99-80%) HP:0100838
16 bruising susceptibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000978
17 gingival bleeding 60 33 hallmark (90%) Very frequent (99-80%) HP:0000225
18 white hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0011364
19 lymphadenopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002716
20 iris hypopigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007730
21 abnormality of multiple cell lineages in the bone marrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0012145
22 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
23 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
24 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
25 photophobia 60 33 frequent (33%) Frequent (79-30%) HP:0000613
26 edema 60 33 frequent (33%) Frequent (79-30%) HP:0000969
27 amblyopia 60 33 frequent (33%) Frequent (79-30%) HP:0000646
28 epistaxis 60 33 frequent (33%) Frequent (79-30%) HP:0000421
29 lymphoma 60 33 frequent (33%) Frequent (79-30%) HP:0002665
30 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
31 developmental regression 60 33 occasional (7.5%) Occasional (29-5%) HP:0002376
32 melanocytic nevus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000995
33 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
34 rigidity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002063
35 gastrointestinal hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002239
36 cerebellar atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001272
37 bradykinesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002067
38 generalized hyperpigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007440
39 intellectual disability 33 HP:0001249
40 gait disturbance 33 HP:0001288
41 visual impairment 33 HP:0000505
42 cranial nerve paralysis 33 HP:0006824
43 abnormality of the eye 60 Very frequent (99-80%)
44 abnormality of vision 60 Very frequent (99-80%)
45 abnormality of movement 60 Occasional (29-5%)
46 peripheral neuropathy 60 Very frequent (99-80%)
47 strabismus 33 HP:0000486
48 decreased nerve conduction velocity 33 HP:0000762
49 reduced visual acuity 33 HP:0007663
50 jaundice 33 HP:0000952

Symptoms via clinical synopsis from OMIM:

58
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
Abdomen Spleen:
splenomegaly

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

Head And Neck Mouth:
gingivitis
pseudomembranous sloughing of buccal mucosa

Neurologic Peripheral Nervous System:
progressive peripheral neuropathy
foot drop

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

Clinical features from OMIM:

214500

UMLS symptoms related to Chediak-Higashi Syndrome:


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

MGI Mouse Phenotypes related to Chediak-Higashi Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.22 CCR6 CD207 FASLG GUSB GZMA HLA-DMA
2 homeostasis/metabolism MP:0005376 10.15 CCR6 CD63 FASLG GUSB HPS1 IL10
3 immune system MP:0005387 10.1 CCR6 CD207 FASLG GZMA HLA-DMA HPS1
4 integument MP:0010771 10 DCT FASLG GUSB HPS1 IL10 LAMP1
5 craniofacial MP:0005382 9.98 GUSB HPS1 IL10 LAMP1 LYST TYR
6 neoplasm MP:0002006 9.63 FASLG GZMA IL10 LYST TYR TYRP1
7 pigmentation MP:0001186 9.43 DCT HPS1 LYST RAB27A TYR TYRP1
8 vision/eye MP:0005391 9.23 DCT FASLG HPS1 IL10 LYST RAB27A
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 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Not Applicable 6055-19-2, 50-18-0 2907
2
Busulfan Approved, Investigational Phase 2, Phase 3,Not Applicable 55-98-1 2478
3 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
4 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
5 Immunologic Factors Phase 2, Phase 3,Phase 1,Not Applicable
6 Alkylating Agents Phase 2, Phase 3,Not Applicable
7 Thymoglobulin Phase 2, Phase 3
8
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
9
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
10
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
11
Fludarabine Approved Phase 2,Not Applicable 75607-67-9, 21679-14-1 30751
12
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
13
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
14 Antimetabolites, Antineoplastic Phase 2,Not Applicable
15 Cyclosporins Phase 2,Phase 1,Not Applicable
16 Antifungal Agents Phase 2,Not Applicable
17 Dermatologic Agents Phase 2,Not Applicable
18 Antilymphocyte Serum Phase 2,Not Applicable
19 Antirheumatic Agents Phase 2,Phase 1,Not Applicable
20 Calcineurin Inhibitors Phase 2,Not Applicable
21 Antimetabolites Phase 2,Not Applicable
22 Anti-Infective Agents Phase 2,Not Applicable
23 Antitubercular Agents Phase 2
24 Antibiotics, Antitubercular Phase 2
25 Antibodies Phase 2
26 Immunoglobulins, Intravenous Phase 2
27 Antineoplastic Agents, Immunological Phase 2,Not Applicable
28 gamma-Globulins Phase 2
29 Anti-Bacterial Agents Phase 2
30 Rho(D) Immune Globulin Phase 2
31 Immunoglobulins Phase 2
32
Abatacept Approved Phase 1 332348-12-6 10237
33
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
34
Lenograstim Approved, Investigational Not Applicable 135968-09-1
35
leucovorin Approved Not Applicable 58-05-9 6006 143
36
Etoposide Approved Not Applicable 33419-42-0 36462
37
Vidarabine Approved, Investigational Not Applicable 24356-66-9 21704 32326
38
Mesna Approved, Investigational Not Applicable 3375-50-6 598
39
Prednisolone phosphate Approved, Vet_approved Not Applicable 302-25-0
40
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
41
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
42
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
43
Methylprednisolone hemisuccinate Approved Not Applicable 2921-57-5
44
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
45
Prednisolone hemisuccinate Experimental Not Applicable 2920-86-7
46 Etoposide phosphate Not Applicable
47 Vitamin B Complex Not Applicable
48 Antineoplastic Agents, Phytogenic Not Applicable
49 Folic Acid Antagonists Not Applicable
50 Folate 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 Active, not 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 30 LYST
Sources

Anatomical Context for Chediak-Higashi Syndrome

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MalaCards organs/tissues related to Chediak-Higashi Syndrome:

42
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 511)
# Title Authors Year
1
Morphological and functional analysis of beige (Chèdiak-Higashi syndrome) mouse mast cells with giant granules. ( 30738290 )
2019
2
Genetic analysis in Egyptian patients with Chediak-Higashi syndrome reveals new LYST mutations. ( 30815890 )
2019
3
Silvery Gray Hair: A Clue to Diagnosing Chédiak-Higashi Syndrome. ( 30879728 )
2019
4
Celebrate CHS month this January! ( 30606871 )
2019
5
Chediak Higashi Syndrome ( 29939658 )
2018
6
Chediak-Higashi Syndrome in Accelerated Phase. ( 29398815 )
2018
7
Acute Transient Sixth Nerve Palsy in Chediak-Higashi Syndrome. ( 30180240 )
2018
8
Genome-Wide Associations of Global Electrical Heterogeneity ECG Phenotype: The ARIC (Atherosclerosis Risk in Communities) Study and CHS (Cardiovascular Health Study). ( 29622589 )
2018
9
Increased chalcone synthase (CHS) expression is associated with dicamba resistance in Kochia scoparia. ( 29083527 )
2018
10
Predictive Ability of Individual Items of the Cardiovascular Health Study (CHS) Scale Compared With the Summative Score. ( 29254904 )
2018
11
Long-Term Cognitive Decline After Newly Diagnosed Heart Failure: Longitudinal Analysis in the CHS (Cardiovascular Health Study). ( 29523517 )
2018
12
Atrial Cardiopathy and the Risk of Ischemic Stroke in the CHS (Cardiovascular Health Study). ( 29535268 )
2018
13
Imaging the secretory compartments involved in the intracellular traffic of CHS-4, a class IV chitin synthase, in Neurospora crassa. ( 29601947 )
2018
14
Functional study of CHS gene family members in citrus revealed a novel CHS gene affecting the production of flavonoids. ( 30208944 )
2018
15
[Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome]. ( 29652989 )
2018
16
Living-Donor Lung Transplantation After Bone Marrow Transplantation for Chediak-Higashi Syndrome. ( 28219570 )
2017
17
A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase. ( 28355352 )
2017
18
Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients. ( 28458669 )
2017
19
A case of Chediak-Higashi syndrome presented with accelerated phase could be treated effectively by unrelated cord blood transplantation. ( 28762620 )
2017
20
Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome. ( 28145517 )
2017
21
Rare inclusion bodies within monocytes at accelerated phase of Chediak-Higashi syndrome. ( 29194041 )
2017
22
An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome. ( 29241728 )
2017
23
Ultrastructural aspects of hairs of Chediak-Higashi syndrome. ( 29224231 )
2017
24
Comparison of the Simplified sWHI and the Standard CHS Frailty Phenotypes for Prediction of Mortality, Incident Falls, and Hip Fractures in Older Women. ( 28505291 )
2017
25
Oligodeoxynucleotides Can Transiently Up- and Downregulate CHS Gene Expression in Flax by Changing DNA Methylation in a Sequence-Specific Manner. ( 28555142 )
2017
26
Cannabinoid Hyperemesis Syndrome (CHS): A Parisian Case Series. ( 29045301 )
2017
27
Inflammatory demyelinating neuropathy heralding accelerated Chediak-Higashi syndrome. ( 27669550 )
2016
28
Oral rehabilitation of patients with Chediak-Higashi syndrome using zygoma and root form implant-supported fixed prostheses: A report of two patients. ( 27492987 )
2016
29
Chediak Higashi Syndrome in Accelerated phase mascquerading as acute leukemia. ( 27093962 )
2016
30
Global Electric Heterogeneity Risk Score for Prediction of Sudden Cardiac Death in the General Population: The Atherosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies. ( 27081116 )
2016
31
Association of Smoking, Alcohol, and Obesity with Cardiovascular Death and Ischemic Stroke in Atrial Fibrillation: The Atherosclerosis Risk in Communities (ARIC) Study and Cardiovascular Health Study (CHS). ( 26756465 )
2016
32
Galectin-3 and Soluble ST2 and Kidney Function Decline in Older Adults: The Cardiovascular Health Study (CHS). ( 26830253 )
2016
33
Rough financial market slows CHS' plans to spin off Quorum. ( 27079019 )
2016
34
Trajectories of function and biomarkers with age: the CHS All Stars Study. ( 27272182 )
2016
35
Chalcone Synthase (CHS) Gene Suppression in Flax Leads to Changes in Wall Synthesis and Sensing Genes, Cell Wall Chemistry and Stem Morphology Parameters. ( 27446124 )
2016
36
Hedge fund boss drops CHS, UHS stocks, pares back health insurance investments. ( 27483611 )
2016
37
Corrigendum to "Complementary Methods for Contact Hypersensitivity (CHS) Evaluation in Mice" [J. Immunol. Methods (2012) 270-275]. ( 27890328 )
2016
38
Isolation of CHS Gene from Brunfelsia acuminata Flowers and Its Regulation in Anthocyanin Biosysthesis. ( 28036083 )
2016
39
Sell assets or go private? CHS weighs the options as it struggles unde huge debt load. ( 30398763 )
2016
40
Why a Chinese billionaire is now the biggest investor in CHS. ( 30480881 )
2016
41
Chediak-Higashi Syndrome: A Case Series from Karnataka, India. ( 26538743 )
2015
42
Successful stem cell transplantation in Chediak-Higashi syndrome. ( 25609327 )
2015
43
Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells. ( 26478006 )
2015
44
Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review. ( 26254864 )
2015
45
Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder. ( 26816903 )
2015
46
A severe systemic presentation of pigmented villonodular synovitis in a child with underlying Chediak-Higashi syndrome. ( 25967956 )
2015
47
A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent. ( 26499269 )
2015
48
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
49
Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings. ( 26622160 )
2015
50
Allogeneic hematopoietic stem cell transplantation for Chediak-Higashi syndrome. ( 26511512 )
2015
Sources

Variations for Chediak-Higashi Syndrome

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

76
# 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 626)
# Gene Variation Type Significance SNP ID Assembly Location
1 LYST NM_000081.3(LYST): c.3622C> T (p.Gln1208Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 235802998: 235802998
2 LYST NM_000081.3(LYST): c.925C> T (p.Arg309Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 235973193: 235973193
3 LYST NM_000081.3(LYST): c.11173G> A (p.Gly3725Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 235827787: 235827787
4 LYST NM_000081.3(LYST): c.11173G> A (p.Gly3725Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 235664487: 235664487
5 LYST NM_000081.3(LYST): c.9827_9832delATACAA (p.Asn3276_Thr3277del) deletion Pathogenic GRCh37 Chromosome 1, 235875450: 235875455
6 LYST NM_000081.3(LYST): c.9827_9832delATACAA (p.Asn3276_Thr3277del) deletion Pathogenic GRCh38 Chromosome 1, 235712150: 235712155
7 LYST NM_000081.3(LYST): c.8281A> T (p.Arg2761Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 235904799: 235904799
8 LYST NM_000081.3(LYST): c.8281A> T (p.Arg2761Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 235741499: 235741499
9 LYST NM_000081.3(LYST): c.7982C> G (p.Ser2661Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 235907448: 235907448
10 LYST NM_000081.3(LYST): c.7982C> G (p.Ser2661Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 235744148: 235744148
11 LYST NM_000081.3(LYST): c.5541_5542delAA (p.Arg1848Serfs) deletion Pathogenic GRCh37 Chromosome 1, 235938305: 235938306
12 LYST NM_000081.3(LYST): c.5541_5542delAA (p.Arg1848Serfs) deletion Pathogenic GRCh38 Chromosome 1, 235775005: 235775006
13 LYST NM_000081.3(LYST): c.5506C> T (p.Arg1836Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 235938341: 235938341
14 LYST NM_000081.3(LYST): c.5506C> T (p.Arg1836Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 235775041: 235775041
15 LYST NM_000081.3(LYST): c.3944dupC (p.Val1316Cysfs) duplication Pathogenic GRCh37 Chromosome 1, 235963682: 235963682
16 LYST NM_000081.3(LYST): c.3944dupC (p.Val1316Cysfs) duplication Pathogenic GRCh38 Chromosome 1, 235800382: 235800382
17 LYST NM_000081.3(LYST): c.3622C> T (p.Gln1208Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 235966298: 235966298
18 LYST NM_000081.3(LYST): c.925C> T (p.Arg309Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 235809893: 235809893
19 LYST NM_000081.3(LYST): c.772T> C (p.Cys258Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 235973346: 235973346
20 LYST NM_000081.3(LYST): c.772T> C (p.Cys258Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 235810046: 235810046
21 LYST NM_000081.3(LYST): c.11102G> T (p.Cys3701Phe) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 235827858: 235827858
22 LYST NM_000081.3(LYST): c.11102G> T (p.Cys3701Phe) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 235664558: 235664558
23 LYST NM_000081.3(LYST): c.9017A> G (p.Lys3006Arg) single nucleotide variant Uncertain significance rs140934482 GRCh37 Chromosome 1, 235894174: 235894174
24 LYST NM_000081.3(LYST): c.9017A> G (p.Lys3006Arg) single nucleotide variant Uncertain significance rs140934482 GRCh38 Chromosome 1, 235730874: 235730874
25 LYST NM_000081.3(LYST): c.6710A> C (p.Gln2237Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs138443479 GRCh37 Chromosome 1, 235922443: 235922443
26 LYST NM_000081.3(LYST): c.6710A> C (p.Gln2237Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs138443479 GRCh38 Chromosome 1, 235759143: 235759143
27 LYST NM_000081.3(LYST): c.5945C> T (p.Thr1982Ile) single nucleotide variant Benign/Likely benign rs146591126 GRCh37 Chromosome 1, 235929555: 235929555
28 LYST NM_000081.3(LYST): c.5945C> T (p.Thr1982Ile) single nucleotide variant Benign/Likely benign rs146591126 GRCh38 Chromosome 1, 235766255: 235766255
29 LYST NM_000081.3(LYST): c.281C> T (p.Thr94Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs777389303 GRCh37 Chromosome 1, 235976273: 235976273
30 LYST NM_000081.3(LYST): c.281C> T (p.Thr94Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs777389303 GRCh38 Chromosome 1, 235812973: 235812973
31 LYST NM_000081.3(LYST): c.1467delG (p.Glu489Aspfs) deletion Pathogenic rs80338644 GRCh37 Chromosome 1, 235972651: 235972651
32 LYST NM_000081.3(LYST): c.1467delG (p.Glu489Aspfs) deletion Pathogenic rs80338644 GRCh38 Chromosome 1, 235809351: 235809351
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.3310C> T (p.Arg1104Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80338652 GRCh38 Chromosome 1, 235805826: 235805826
35 LYST NM_000081.3(LYST): c.118_119insG (p.Ala40Glyfs) insertion Pathogenic rs80338642 GRCh37 Chromosome 1, 235993600: 235993600
36 LYST NM_000081.3(LYST): c.118_119insG (p.Ala40Glyfs) insertion Pathogenic rs80338642 GRCh38 Chromosome 1, 235830300: 235830300
37 LYST NM_000081.3(LYST): c.1902dupA (p.Ala635Serfs) duplication Pathogenic rs80338646 GRCh37 Chromosome 1, 235972216: 235972216
38 LYST NM_000081.3(LYST): c.1902dupA (p.Ala635Serfs) duplication Pathogenic rs80338646 GRCh38 Chromosome 1, 235808916: 235808916
39 LYST NM_000081.3(LYST): c.9590delA (p.Tyr3197Leufs) deletion Pathogenic rs80338667 GRCh37 Chromosome 1, 235880049: 235880049
40 LYST NM_000081.3(LYST): c.9590delA (p.Tyr3197Leufs) deletion Pathogenic rs80338667 GRCh38 Chromosome 1, 235716749: 235716749
41 LYST NM_000081.3(LYST): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic rs80338643 GRCh37 Chromosome 1, 235993570: 235993570
42 LYST NM_000081.3(LYST): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic rs80338643 GRCh38 Chromosome 1, 235830270: 235830270
43 LYST NM_000081.3(LYST): c.3085C> T (p.Gln1029Ter) single nucleotide variant Pathogenic rs80338651 GRCh37 Chromosome 1, 235969351: 235969351
44 LYST NM_000081.3(LYST): c.3085C> T (p.Gln1029Ter) single nucleotide variant Pathogenic rs80338651 GRCh38 Chromosome 1, 235806051: 235806051
45 LYST NM_000081.3(LYST): c.2623delT (p.Tyr875Metfs) deletion Pathogenic rs80338649 GRCh37 Chromosome 1, 235969813: 235969813
46 LYST NM_000081.3(LYST): c.2623delT (p.Tyr875Metfs) deletion Pathogenic rs80338649 GRCh38 Chromosome 1, 235806513: 235806513
47 LYST NM_000081.3(LYST): c.4688G> A (p.Arg1563His) single nucleotide variant Pathogenic rs80338657 GRCh37 Chromosome 1, 235952001: 235952001
48 LYST NM_000081.3(LYST): c.4688G> A (p.Arg1563His) single nucleotide variant Pathogenic rs80338657 GRCh38 Chromosome 1, 235788701: 235788701
49 LYST NM_000081.3(LYST): c.5996T> A (p.Val1999Asp) single nucleotide variant Pathogenic rs28942077 GRCh37 Chromosome 1, 235929504: 235929504
50 LYST NM_000081.3(LYST): c.5996T> A (p.Val1999Asp) single nucleotide variant Pathogenic rs28942077 GRCh38 Chromosome 1, 235766204: 235766204
Sources

Expression for Chediak-Higashi Syndrome

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Search GEO for disease gene expression data for Chediak-Higashi Syndrome.
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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
NF-kappaB Signaling 4
11.87 CD63 FASLG GZMA IL10 MPO
2
Lysosome 38
11.63 CD63 GUSB LAMP1
3
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 66
11.56 IL10 LAMP1 MPO
4
Innate Lymphoid Cell Differentiation Pathways 66
11.34 CCR6 GZMA IL10
5
Tyrosine metabolism 38
Show member pathways
 11.21 DCT TYR TYRP1
6
Melanin biosynthesis 67
9.5 DCT 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 cell surface GO:0009986 9.72 CCR6 CD63 FASLG HLA-DMA LAMP1
2 late endosome GO:0005770 9.54 CD63 LAMP1 RAB27A
3 melanosome membrane GO:0033162 9.46 DCT RAB27A TYR TYRP1
4 melanosome GO:0042470 9.43 CD63 DCT LAMP1 RAB27A TYR TYRP1
5 lysosome GO:0005764 9.28 CD63 FASLG GUSB HLA-DMA HPS1 LAMP1
6 multivesicular body membrane GO:0032585 9.26 CD63 RAB27A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.72 CCR6 FASLG GZMA HLA-DMA IL10
2 defense response to bacterium GO:0042742 9.67 IL10 LYG2 LYST MPO
3 neutrophil degranulation GO:0043312 9.65 CD63 GUSB LAMP1 MPO RAB27A
4 leukocyte chemotaxis GO:0030595 9.49 IL10 LYST
5 defense response to protozoan GO:0042832 9.48 IL10 LYST
6 melanocyte differentiation GO:0030318 9.46 RAB27A TYRP1
7 melanosome organization GO:0032438 9.43 LYST TYRP1
8 negative regulation of growth of symbiont in host GO:0044130 9.4 IL10 MPO
9 melanin biosynthetic process from tyrosine GO:0006583 9.16 DCT TYR
10 melanin biosynthetic process GO:0042438 9.13 DCT TYR TYRP1
11 pigmentation GO:0043473 9.1 CD63 DCT 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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