Details of Disease | DrugMAP

General Information of Disease (ID: DISPJLLO)

Disease Name	Chediak-Higashi syndrome
Synonyms	Chediak-Higashi syndrome; ChC)diak-Higashi disease; Chediak - Steinbrinck anomaly; Chediak Higashi Syndrome; Chdiak-Higashi syndrome; CHS; ChC)diak-Higashi-Steinbrink syndrome; Chediak Higashi syndrome; Chdiak-Higashi disease; Chdiak-Higashi-Steinbrink syndrome
Definition	ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.
Disease Hierarchy	DISSYRHC: Hereditary peripheral neuropathy DIS2BIP8: Congenital nervous system disorder DIS063EG: Syndromic oculocutaneous albinism DISZ74WG: Constitutional neutropenia DISOSIQY: Disorder of lysosomal-related organelles DISQP21Z: Hereditary hemophagocytic lymphohistiocytosis DISPN7D2: Inherited neurodegenerative disorder DISPJLLO: Chediak-Higashi syndrome
Disease Identifiers	MONDO ID MONDO_0008963 MESH ID D002609 UMLS CUI C0007965 OMIM ID 214500 MedGen ID 3347 Orphanet ID 167 SNOMED CT ID 111396008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CHM	TTOA18V	Disputed	Biomarker	[1]
LTC4S	TTW7OTG	Disputed	Altered Expression	[2]
RAB7A	TTF6WAQ	Disputed	Altered Expression	[3]
RAB9A	TT958S6	Disputed	Biomarker	[3]
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This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NBEAL1	OTLJ11N3	Disputed	Genetic Variation	[4]
PIK3R4	OTRL8QP8	Disputed	Biomarker	[5]
RAB7B	OT60A0E9	Disputed	Altered Expression	[3]
SYTL3	OT6TPBA9	Disputed	Biomarker	[6]
AP3B1	OTYTIH5Q	Strong	Biomarker	[7]
CYCS	OTBFALJD	Strong	Biomarker	[8]
HLCS	OTPDUX30	Strong	Biomarker	[8]
FGL1	OTT0QHQ1	Definitive	Genetic Variation	[9]
HPS1	OTKS5I7T	Definitive	Genetic Variation	[9]
LYST	OTIUB1B3	Definitive	Autosomal recessive	[10]
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⏷ Show the Full List of 10 DOT(s)

References

1	Technical improvements in carotid revascularization based on the mechanism of procedural stroke.J Cardiovasc Surg (Torino). 2019 Jun;60(3):313-324. doi: 10.23736/S0021-9509.19.10918-4. Epub 2019 Mar 1.
2	Cysteinyl leukotriene expression in chronic hyperplastic sinusitis-nasal polyposis: importance to eosinophilia and asthma.J Allergy Clin Immunol. 2003 Feb;111(2):342-9. doi: 10.1067/mai.2003.67.
3	Cloning and mapping of human Rab7 and Rab9 cDNA sequences and identification of a Rab9 pseudogene.Genomics. 1997 Apr 1;41(1):131-4. doi: 10.1006/geno.1997.4644.
4	LYST affects lysosome size and quantity, but not trafficking or degradation through autophagy or endocytosis.Traffic. 2014 Dec;15(12):1390-405. doi: 10.1111/tra.12227. Epub 2014 Oct 8.
5	Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.Nat Genet. 1996 Nov;14(3):307-11. doi: 10.1038/ng1196-307.
6	LYST controls the biogenesis of the endosomal compartment required for secretory lysosome function.Traffic. 2015 Feb;16(2):191-203. doi: 10.1111/tra.12244. Epub 2015 Jan 6.
7	The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.Blood. 2013 Apr 11;121(15):2943-51. doi: 10.1182/blood-2012-10-463166. Epub 2013 Feb 12.
8	ADAM8 promotes chondrosarcoma cell migration and invasion by activating the NF-B/MMP-13 signaling axis.Anticancer Drugs. 2019 Aug;30(7):e0790. doi: 10.1097/CAD.0000000000000790.
9	Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat. 1999;13(2):99-115. doi: 10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C.
10	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.