Details of Disease | DrugMAP

General Information of Disease (ID: DISQP21Z)

Disease Name	Hereditary hemophagocytic lymphohistiocytosis
Synonyms	genetic hemophagocytic lymphohistiocytosis; genetic hemophagocytic syndrome; familial hemophagocytic lymphohistiocytosis; primary hemophagocytic lymphohistiocytosis
Definition	An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual.
Disease Hierarchy	DIS3TMN4: Hemophagocytic syndrome DISNGCMN: Inborn error of immunity DISQP21Z: Hereditary hemophagocytic lymphohistiocytosis
Disease Identifiers	MONDO ID MONDO_0015541 MESH ID D051359 UMLS CUI C0272199 MedGen ID 78797 Orphanet ID 158038 SNOMED CT ID 398250003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UNC13D	OTQ8AU7C	Supportive	Autosomal recessive	[1]
PRF1	OTFVXD7H	Supportive	Autosomal recessive	[1]
STX11	OTHFRSFP	Supportive	Autosomal recessive	[1]
STXBP2	OTX8GUC4	Supportive	Autosomal recessive	[1]
RAB27A	OT9SQRWY	moderate	Biomarker	[2]
COA7	OTRQJYL6	Strong	Biomarker	[3]
FHL2	OT0OAYWT	Strong	Genetic Variation	[4]
FHL3	OTMPRLZ5	Strong	Biomarker	[5]
FHL5	OT6C00Z1	Strong	Genetic Variation	[6]
HAVCR2	OTOL603T	Strong	Biomarker	[7]
SNAP23	OTY2MYBX	Strong	Genetic Variation	[8]
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⏷ Show the Full List of 11 DOT(s)

References

1	Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. Am J Hum Genet. 2001 Mar;68(3):590-7. doi: 10.1086/318796. Epub 2001 Feb 6.
2	Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.J Allergy Clin Immunol. 2015 May;135(5):1310-8.e1. doi: 10.1016/j.jaci.2014.08.039. Epub 2014 Oct 11.
3	Auditory processing and neuropsychological profiles of children with functional hearing loss.Int J Pediatr Otorhinolaryngol. 2018 Nov;114:51-60. doi: 10.1016/j.ijporl.2018.07.054. Epub 2018 Jul 31.
4	Bone marrow derived mesenchymal stem cells ameliorate inflammatory response in an in vitro model of familial hemophagocytic lymphohistiocytosis 2.Stem Cell Res Ther. 2018 Jul 18;9(1):198. doi: 10.1186/s13287-018-0941-y.
5	Retroviral UNC13D Gene Transfer Restores Cytotoxic Activity of T Cells Derived from Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients In Vitro.Hum Gene Ther. 2019 Aug;30(8):975-984. doi: 10.1089/hum.2019.025. Epub 2019 May 21.
6	Familial hemophagocytic lymphohistiocytosis type 5 in a Chinese Tibetan patient caused by a novel compound heterozygous mutation in STXBP2.Medicine (Baltimore). 2019 Oct;98(43):e17674. doi: 10.1097/MD.0000000000017674.
7	Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.Nat Genet. 2018 Dec;50(12):1650-1657. doi: 10.1038/s41588-018-0251-4. Epub 2018 Oct 29.
8	Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people.J Hum Genet. 2005;50(11):600-603. doi: 10.1007/s10038-005-0293-1. Epub 2005 Sep 23.