CHS
MCID: CHD001
MIFTS: 64

Chediak-Higashi Syndrome (CHS) malady

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

Aliases & Classifications for Chediak-Higashi Syndrome

Aliases & Descriptions for Chediak-Higashi Syndrome:

Name: Chediak-Higashi Syndrome 54 38 12 23 50 24 25 66 13 52 42 14 69 56
Chs 12 50 25 66 14
Chédiak-Higashi Disease 56 29
Oculocutaneous Albinism with Leukocyte Defect 25
Chediak-Steinbrinck-Higashi Syndrome 25
Chédiak-Higashi-Steinbrink Syndrome 56
Chediak - Steinbrinck Anomaly 12
Chediak Higashi Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
chédiak-higashi syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

HPO:

32
chediak-higashi syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 214500
Disease Ontology 12 DOID:2935
ICD10 33 D72.0 E70.330
MeSH 42 D002609
NCIt 47 C2941
Orphanet 56 ORPHA167
MESH via Orphanet 43 D002609
UMLS via Orphanet 70 C0007965
ICD10 via Orphanet 34 E70.3
UMLS 69 C0007965

Summaries for Chediak-Higashi Syndrome

NIH Rare Diseases : 50 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 attenuated chédiak-higashi syndrome and congenital hypothyroidism, 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 homeostasis/metabolism and hematopoietic system

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 : 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.

UniProtKB/Swiss-Prot : 66 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 : 71 Chédiak–Higashi syndrome is a rare autosomal recessive disorder that arises from a mutation of a... more...

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 58)
id Related Disease Score Top Affiliating Genes
1 attenuated chédiak-higashi syndrome 12.2
2 congenital hypothyroidism 11.6
3 neutropenia, severe congenital 3, autosomal recessive 11.2
4 storage pool platelet disease 11.2
5 central hypoventilation syndrome, congenital 11.0
6 cluster headache 10.8
7 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 10.8
8 neutropenia, cyclic 10.8
9 retinitis 10.3
10 hermansky-pudlak syndrome 10.3
11 neuropathy 10.3
12 hemophagocytic lymphohistiocytosis 10.2
13 leukemia 10.2
14 periodontitis 10.2
15 lymphoma 10.2
16 albinism 10.2
17 stomach diverticulosis 10.2 TYR TYRP1
18 craniosynostosis 6 10.2 TYR TYRP1
19 aicardi-goutieres syndrome 6 10.1 LYST TYR TYRP1
20 focal facial dermal dysplasia 4 10.1 HPS1 LYST TYR
21 gigantism 10.1
22 chronic granulomatous disease 10.1
23 periodontal disease 10.1
24 neutropenia 10.1
25 amyloidosis 10.1
26 oculocutaneous albinism 10.1
27 acute leukemia 10.1
28 gallbladder disease 10.1 TYR TYRP1
29 madras motor neuron disease 10.1 RAB27A UNC13D
30 leukorrhea 10.1 HPS1 TYR TYRP1
31 amyotrophic lateral sclerosis-parkinsonism/dementia complex 10.1 RAB27A UNC13D
32 patterned macular dystrophy 10.1 LYST RAB27A UNC13D
33 hypothyroidism 10.0
34 acute lymphocytic leukemia 10.0
35 pigmented villonodular synovitis 10.0
36 synovitis 10.0
37 silvery hair syndrome 10.0
38 hematopoietic stem cell transplantation 10.0
39 hepatitis 10.0
40 lysosomal storage disease 10.0
41 factor xii deficiency 10.0
42 villonodular synovitis 10.0
43 transmitted_by 10.0
44 hermansky-pudlak syndrome 1 10.0
45 griscelli syndrome 10.0
46 choroiditis 10.0
47 dystrophinopathies 10.0
48 diarrhea 10.0
49 cerebellar degeneration 10.0
50 chronic active epstein-barr virus infection 10.0

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 by clinical synopsis from OMIM:

214500

Clinical features from OMIM:

214500

Human phenotypes related to Chediak-Higashi Syndrome:

56 32 (show top 50) (show all 66)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Occasional (29-5%) HP:0001251
2 edema 56 32 Frequent (79-30%) HP:0000969
3 fever 56 32 Very frequent (99-80%) HP:0001945
4 seizures 56 32 Frequent (79-30%) HP:0001250
5 tremor 56 32 Frequent (79-30%) HP:0001337
6 photophobia 56 32 Frequent (79-30%) HP:0000613
7 bradykinesia 56 32 Occasional (29-5%) HP:0002067
8 nystagmus 56 32 Frequent (79-30%) HP:0000639
9 developmental regression 56 32 Occasional (29-5%) HP:0002376
10 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
11 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
12 recurrent respiratory infections 56 32 Very frequent (99-80%) HP:0002205
13 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
14 immunodeficiency 56 32 Very frequent (99-80%) HP:0002721
15 anemia 56 32 Very frequent (99-80%) HP:0001903
16 melanocytic nevus 56 32 Occasional (29-5%) HP:0000995
17 thrombocytopenia 56 32 Very frequent (99-80%) HP:0001873
18 skin ulcer 56 32 Very frequent (99-80%) HP:0200042
19 paresthesia 56 32 Very frequent (99-80%) HP:0003401
20 rigidity 56 32 Occasional (29-5%) HP:0002063
21 gastrointestinal hemorrhage 56 32 Occasional (29-5%) HP:0002239
22 amblyopia 56 32 Frequent (79-30%) HP:0000646
23 periodontitis 56 32 Very frequent (99-80%) HP:0000704
24 areflexia 56 32 Very frequent (99-80%) HP:0001284
25 generalized hypopigmentation 56 32 Very frequent (99-80%) HP:0007513
26 epistaxis 56 32 Frequent (79-30%) HP:0000421
27 neutropenia 56 32 Very frequent (99-80%) HP:0001875
28 recurrent cutaneous abscess formation 56 32 Very frequent (99-80%) HP:0100838
29 bruising susceptibility 56 32 Very frequent (99-80%) HP:0000978
30 gingival bleeding 56 32 Very frequent (99-80%) HP:0000225
31 lymphoma 56 32 Frequent (79-30%) HP:0002665
32 white hair 56 32 Very frequent (99-80%) HP:0011364
33 cerebellar atrophy 56 32 Occasional (29-5%) HP:0001272
34 lymphadenopathy 56 32 Very frequent (99-80%) HP:0002716
35 generalized hyperpigmentation 56 32 Occasional (29-5%) HP:0007440
36 iris hypopigmentation 56 32 Very frequent (99-80%) HP:0007730
37 abnormality of multiple cell lineages in the bone marrow 56 32 Very frequent (99-80%) HP:0012145
38 abnormality of extrapyramidal motor function 56 Occasional (29-5%)
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 56 Very frequent (99-80%)
44 abnormality of vision 56 Very frequent (99-80%)
45 abnormality of movement 56 Occasional (29-5%)
46 peripheral neuropathy 56 Very frequent (99-80%)
47 strabismus 32 HP:0000486
48 decreased nerve conduction velocity 32 HP:0000762
49 atria septal defect 56 Occasional (29-5%)
50 reduced visual acuity 32 HP:0007663

UMLS symptoms related to Chediak-Higashi Syndrome:


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

MGI Mouse Phenotypes related to Chediak-Higashi Syndrome:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.22 LYST MPO NBEA RAB27A TYR TYRP1
2 hematopoietic system MP:0005397 10.19 FASLG GUSB HPS1 LYST MPO RAB27A
3 immune system MP:0005387 10.16 ABCA1 CD207 CTSG FASLG HPS1 LYST
4 mortality/aging MP:0010768 10.1 ABCA1 CTSG FASLG GUSB HPS1 LYST
5 endocrine/exocrine gland MP:0005379 10.07 TYR ABCA1 FASLG GUSB LYST NBEA
6 integument MP:0010771 10.03 FASLG GUSB HPS1 LYST NBEA RAB27A
7 nervous system MP:0003631 9.92 ABCA1 FASLG LYST NBEA RAB27A TYR
8 hearing/vestibular/ear MP:0005377 9.91 GUSB HPS1 LYST TYR TYRP1
9 neoplasm MP:0002006 9.77 CTSG FASLG LYST TYR TYRP1
10 pigmentation MP:0001186 9.73 ABCA1 HPS1 LYST RAB27A TYR TYRP1
11 renal/urinary system MP:0005367 9.63 ABCA1 FASLG GUSB HPS1 TYR LYST
12 respiratory system MP:0005388 9.43 ABCA1 FASLG HPS1 LYST NBEA RAB27A
13 vision/eye MP:0005391 9.17 ABCA1 FASLG HPS1 LYST RAB27A TYR

Drugs & Therapeutics for Chediak-Higashi Syndrome

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

(show top 50) (show all 66)
id 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 Antineoplastic Agents, Alkylating Phase 2, Phase 3
5 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
6
Cyclosporine Approved, Investigational, Vet_approved Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
7
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
8
alemtuzumab Approved, Investigational Phase 2 216503-57-0
9
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
10
Melphalan Approved Phase 2 148-82-3 4053 460612
11
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
12
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
13
Thiotepa Approved Phase 2 52-24-4 5453
14 Antifungal Agents Phase 2
15 Anti-Infective Agents Phase 2
16 Antilymphocyte Serum Phase 2
17 Antimetabolites Phase 2
18 Antimetabolites, Antineoplastic Phase 2
19 Antirheumatic Agents Phase 2,Phase 1
20 Calcineurin Inhibitors Phase 2
21 Dermatologic Agents Phase 2
22 Anti-Bacterial Agents Phase 2
23 Antibiotics, Antitubercular Phase 2
24 Antibodies 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 135968-09-1
32
Methotrexate Approved 1959-05-2, 59-05-2 126941
33
Mesna Approved 3375-50-6 598
34
Vidarabine Approved 24356-66-9 32326 21704
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 54575, 6560146 143
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)
id Name Status NCT ID Phase
1 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Unknown status NCT00176826 Phase 2, Phase 3
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
4 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2
5 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
6 Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders Unknown status NCT00006056
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
11 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054
12 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851

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:

id Genetic test Affiliating Genes
1 Chédiak-Higashi Syndrome 29
2 Chediak-Higashi Syndrome 24 LYST

Anatomical Context for Chediak-Higashi Syndrome

MalaCards organs/tissues related to Chediak-Higashi Syndrome:

39
Bone, Skin, Bone Marrow, Neutrophil, Eye, T Cells, Lung

Publications for Chediak-Higashi Syndrome

Articles related to Chediak-Higashi Syndrome:

(show top 50) (show all 354)
id Title Authors Year
1
Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients. ( 28458669 )
2017
2
A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase. ( 28355352 )
2017
3
Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome. ( 28145517 )
2017
4
Living-Donor Lung Transplantation After Bone Marrow Transplantation for Chediak-Higashi Syndrome. ( 28219570 )
2017
5
Chediak Higashi Syndrome in Accelerated phase mascquerading as acute leukemia. ( 27093962 )
2016
6
Inflammatory demyelinating neuropathy heralding accelerated Chediak-Higashi syndrome. ( 27669550 )
2016
7
Oral rehabilitation of patients with Chediak-Higashi syndrome using zygoma and root form implant-supported fixed prostheses: A report of two patients. ( 27492987 )
2016
8
Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells. ( 26478006 )
2015
9
Chediak-Higashi Syndrome: A Case Series from Karnataka, India. ( 26538743 )
2015
10
A severe systemic presentation of pigmented villonodular synovitis in a child with underlying Chediak-Higashi syndrome. ( 25967956 )
2015
11
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
12
Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings. ( 26622160 )
2015
13
Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review. ( 26254864 )
2015
14
Allogeneic hematopoietic stem cell transplantation for Chediak-Higashi syndrome. ( 26511512 )
2015
15
Successful stem cell transplantation in Chediak-Higashi syndrome. ( 25609327 )
2015
16
A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent. ( 26499269 )
2015
17
Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder. ( 26816903 )
2015
18
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
19
A Rare Cause of Recurrent Oral Lesions: Chediak-Higashi Syndrome. ( 25330529 )
2014
20
Towards the targeted management of Chediak-Higashi syndrome. ( 25129365 )
2014
21
Chediak-higashi syndrome in accelerated phase: a rare case report with review of literature. ( 25332576 )
2014
22
Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response. ( 25528552 )
2014
23
Chediak-Higashi syndrome in accelerated phase masquerading as severe acute malnutrition. ( 24686807 )
2014
24
Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype. ( 24112114 )
2014
25
Motor neuronopathy in Chediak-Higashi syndrome. ( 25043664 )
2014
26
Chediak-Higashi Syndrome: A Case Report of a Girl Without Silvery Hair and Oculocutaneous Albinism Presenting with Hemophagocytic Lymphohistiocytosis. ( 25541665 )
2014
27
Chediak-higashi syndrome presented as accelerated phase: case report and review of the literature. ( 25332584 )
2014
28
Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism. ( 23436631 )
2013
29
Chediak-Higashi Syndrome: Novel Mutation of the CHS1/LYST Gene in 3 Omani Patients. ( 24072239 )
2013
30
Commentary for "Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism". ( 23436632 )
2013
31
The accelerated phase of chediak-higashi syndrome: the importance of hematological evaluation. ( 24385762 )
2013
32
Mixed hyperpigmentation and hypopigmentation of iris and choroid in Chediak-Higashi syndrome. ( 24160983 )
2013
33
Chediak-Higashi syndrome: pathognomonic feature. ( 23541537 )
2013
34
Chediak-Higashi syndrome and premature exfoliation of primary teeth. ( 24474367 )
2013
35
A new method for rapid detection of the mutant allele for Chediak-Higashi syndrome in Japanese black cattle. ( 23615171 )
2013
36
Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi syndrome. ( 22738378 )
2013
37
Accelerated phase of Chediak-Higashi syndrome. ( 22329017 )
2012
38
Chediak-Higashi syndrome presenting in accelerated phase. ( 22868026 )
2012
39
Unrelated cord blood transplantation can restore hematologic and immunologic functions in patients with Chediak-Higashi syndrome. ( 21450011 )
2012
40
Do you know this syndrome? Chediak-Higashi syndrome. ( 22147054 )
2011
41
Chediak-Higashi syndrome - a report of two cases with unusual hyperpigmentation of the face. ( 21935875 )
2011
42
Clinico-hematological profile of Chediak-Higashi syndrome: experience from a tertiary care center in south India. ( 21934218 )
2011
43
A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome. ( 21488161 )
2011
44
Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome. ( 21878672 )
2011
45
Rituximab and cyclosporine therapy for accelerated phase Chediak-Higashi syndrome. ( 21681939 )
2011
46
Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. ( 22223973 )
2011
47
Periodontitis associated with Chediak-Higashi syndrome in a young African American male. ( 20465032 )
2010
48
Two novel mutations identified in an african-american child with chediak-higashi syndrome. ( 20368792 )
2010
49
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1. ( 20503323 )
2010
50
Abnormal hematopoiesis with lysosomal vesicles and giant granules in Chediak-Higashi syndrome. ( 19705436 )
2010

Variations for Chediak-Higashi Syndrome

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

66
id 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 41)
id 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.3310C> T (p.Arg1104Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80338652 GRCh37 Chromosome 1, 235969126: 235969126
3 LYST NM_000081.3(LYST): c.118dupG (p.Ala40Glyfs) duplication Pathogenic rs80338642 GRCh37 Chromosome 1, 235993600: 235993600
4 LYST NM_000081.3(LYST): c.1902dupA (p.Ala635Serfs) duplication Pathogenic rs80338646 GRCh37 Chromosome 1, 235972216: 235972216
5 LYST NM_000081.3(LYST): c.9590delA (p.Tyr3197Leufs) deletion Pathogenic rs80338667 GRCh37 Chromosome 1, 235880049: 235880049
6 LYST NM_000081.3(LYST): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic rs80338643 GRCh37 Chromosome 1, 235993570: 235993570
7 LYST NM_000081.3(LYST): c.3085C> T (p.Gln1029Ter) single nucleotide variant Pathogenic rs80338651 GRCh37 Chromosome 1, 235969351: 235969351
8 LYST NM_000081.3(LYST): c.2623delT (p.Tyr875Metfs) deletion Pathogenic rs80338649 GRCh37 Chromosome 1, 235969813: 235969813
9 LYST NM_000081.3(LYST): c.4688G> A (p.Arg1563His) single nucleotide variant Pathogenic rs80338657 GRCh37 Chromosome 1, 235952001: 235952001
10 LYST NM_000081.3(LYST): c.5996T> A (p.Val1999Asp) single nucleotide variant Pathogenic rs28942077 GRCh37 Chromosome 1, 235929504: 235929504
11 LYST NM_000081.3(LYST): c.9107_9162del56 (p.Gly3036Glufs) deletion Pathogenic rs80338665 GRCh37 Chromosome 1, 235891376: 235891431
12 LYST NM_000081.3(LYST): c.10127A> G (p.Asn3376Ser) single nucleotide variant Pathogenic rs80338669 GRCh37 Chromosome 1, 235872407: 235872407
13 LYST NM_000081.3(LYST): c.10395delA (p.Gly3466Alafs) deletion Pathogenic rs80338670 GRCh37 Chromosome 1, 235860552: 235860552
14 LYST NM_000081.3(LYST): c.1540C> T (p.Arg514Ter) single nucleotide variant Pathogenic rs80338645 GRCh37 Chromosome 1, 235972578: 235972578
15 LYST NM_000081.3(LYST): c.2413delG (p.Glu805Asnfs) deletion Pathogenic rs80338647 GRCh37 Chromosome 1, 235970023: 235970023
16 LYST NM_000081.3(LYST): c.2454delA (p.Ala819Hisfs) deletion Pathogenic rs80338648 GRCh37 Chromosome 1, 235969982: 235969982
17 LYST NM_000081.3(LYST): c.3073_3074delAA (p.Asn1025Glnfs) deletion Pathogenic rs80338650 GRCh37 Chromosome 1, 235969362: 235969363
18 LYST NM_000081.3(LYST): c.3434dupA (p.His1145Glnfs) duplication Pathogenic rs80338653 GRCh37 Chromosome 1, 235967925: 235967925
19 LYST NM_000081.3(LYST): c.4052C> G (p.Ser1351Ter) single nucleotide variant Pathogenic rs80338654 GRCh37 Chromosome 1, 235956867: 235956867
20 LYST NM_000081.3(LYST): c.4274delT (p.Leu1425Tyrfs) deletion Pathogenic rs80338656 GRCh37 Chromosome 1, 235955268: 235955268
21 LYST NM_000081.3(LYST): c.4361C> A (p.Ala1454Asp) single nucleotide variant Pathogenic rs80338655 GRCh37 Chromosome 1, 235955181: 235955181
22 LYST NM_000081.3(LYST): c.5061T> A (p.Tyr1687Ter) single nucleotide variant Pathogenic rs80338658 GRCh37 Chromosome 1, 235944318: 235944318
23 LYST NM_000081.3(LYST): c.5317delA (p.Arg1773Aspfs) deletion Pathogenic rs80338659 GRCh37 Chromosome 1, 235940506: 235940506
24 LYST NM_000081.3(LYST): c.6078C> A (p.Tyr2026Ter) single nucleotide variant Pathogenic rs80338660 GRCh37 Chromosome 1, 235929422: 235929422
25 LYST NM_000081.3(LYST): c.7060_7066delCTATTAG (p.Leu2354Metfs) deletion Pathogenic rs80338661 GRCh37 Chromosome 1, 235918941: 235918947
26 LYST NM_000081.3(LYST): c.7555delT (p.Tyr2519Ilefs) deletion Pathogenic rs80338662 GRCh37 Chromosome 1, 235915377: 235915377
27 LYST NM_000081.3(LYST): c.8428G> A (p.Glu2810Lys) single nucleotide variant Pathogenic rs80338663 GRCh37 Chromosome 1, 235897890: 235897890
28 LYST NM_000081.3(LYST): c.8583G> A (p.Trp2861Ter) single nucleotide variant Pathogenic rs80338664 GRCh37 Chromosome 1, 235897159: 235897159
29 LYST NM_000081.3(LYST): c.9228_9229insTTCTTTCAGT (p.Lys3077Phefs) insertion Pathogenic rs80338666 GRCh37 Chromosome 1, 235887414: 235887415
30 LYST NM_000081.3(LYST): c.9893delT (p.Phe3298Serfs) deletion Pathogenic rs80338668 GRCh37 Chromosome 1, 235875389: 235875389
31 LYST NM_000081.3(LYST): c.3622C> T (p.Gln1208Ter) single nucleotide variant Pathogenic rs797044535 GRCh37 Chromosome 1, 235966298: 235966298
32 LYST NM_000081.3(LYST): c.11173G> A (p.Gly3725Arg) single nucleotide variant Pathogenic rs797044542 GRCh37 Chromosome 1, 235827787: 235827787
33 LYST NM_000081.3(LYST): c.9827_9832delATACAA (p.Asn3276_Thr3277del) deletion Pathogenic rs797044540 GRCh37 Chromosome 1, 235875450: 235875455
34 LYST NM_000081.3(LYST): c.8281A> T (p.Arg2761Ter) single nucleotide variant Pathogenic rs797044539 GRCh37 Chromosome 1, 235904799: 235904799
35 LYST NM_000081.3(LYST): c.7982C> G (p.Ser2661Ter) single nucleotide variant Pathogenic rs797044538 GRCh37 Chromosome 1, 235907448: 235907448
36 LYST NM_000081.3(LYST): c.5541_5542delAA (p.Arg1848Serfs) deletion Pathogenic rs797044537 GRCh37 Chromosome 1, 235938305: 235938306
37 LYST NM_000081.3(LYST): c.5506C> T (p.Arg1836Ter) single nucleotide variant Pathogenic rs757222354 GRCh37 Chromosome 1, 235938341: 235938341
38 LYST NM_000081.3(LYST): c.3944dupC (p.Val1316Cysfs) duplication Pathogenic rs797044536 GRCh37 Chromosome 1, 235963682: 235963682
39 LYST NM_000081.3(LYST): c.925C> T (p.Arg309Ter) single nucleotide variant Pathogenic rs370022675 GRCh37 Chromosome 1, 235973193: 235973193
40 LYST NM_000081.3(LYST): c.772T> C (p.Cys258Arg) single nucleotide variant Pathogenic rs797044534 GRCh37 Chromosome 1, 235973346: 235973346
41 LYST NM_000081.3(LYST): c.11102G> T (p.Cys3701Phe) single nucleotide variant Pathogenic rs797044541 GRCh37 Chromosome 1, 235827858: 235827858

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 9.54 RAB27A TYR TYRP1
2 secretory granule GO:0030141 9.5 CTSG MPO RAB27A
3 azurophil granule lumen GO:0035578 9.46 CTSG GUSB MPO UNC13D
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.43 CD207 TYRP1
5 exocytic vesicle GO:0070382 9.4 RAB27A UNC13D
6 Weibel-Palade body GO:0033093 9.26 RAB27A UNC13D
7 lysosome GO:0005764 9.17 FASLG GUSB HPS1 MPO RAB27A TYR
8 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)
id 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 9.67 CD207 LYST UNC13D
5 defense response to fungus GO:0050832 9.51 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
28 GO
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70 UMLS via Orphanet
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