Details of Disease

General Information of Disease (ID: DISQQOM4)

Disease Name Cyclic hematopoiesis
Synonyms
neutropenia cyclic; cyclic neutropenia; CH; cyclic agranulocytosis; cyclic hematopoiesis; periodic neutropenia; dysplasia, myelocytic periodic; cyclical neutropenia; neutropenia, periodic; CN; neutropenia, cyclic
Definition A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.
Disease Hierarchy
DISYKSRF: Genetic disease
DISZ74WG: Constitutional neutropenia
DISQQOM4: Cyclic hematopoiesis
Disease Identifiers
MONDO ID
MONDO_0008090
MESH ID
C536227
UMLS CUI
C0221023
OMIM ID
162800
MedGen ID
65121
HPO ID
HP:0040289
Orphanet ID
2686
SNOMED CT ID
191347008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ELANE TTPLTSQ Strong Autosomal dominant [1]
ELANE TTPLTSQ Strong Genetic Variation [2]
LIMK2 TTASMD8 Strong Biomarker [3]
SHH TTIENCJ Strong Biomarker [4]
UGT1A1 TT34ZAF Strong Genetic Variation [5]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
G6PC3 DEE1B8O Strong Genetic Variation [6]
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This Disease Is Related to 9 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LRRC4C OT5QI5EP moderate Genetic Variation [7]
C4A OTXMOYXU Strong Biomarker [8]
CNDP1 OTOYSQG7 Strong Biomarker [5]
CORT OTX3GUHB Strong Altered Expression [9]
EEA1 OTIBXC1B Strong Biomarker [10]
ELANE OTCOHLXR Strong Autosomal dominant [1]
HOXB8 OTKHOD17 Strong Genetic Variation [11]
LHX4 OTVX3J6S Strong Genetic Variation [12]
NT5C1A OTS7UF36 Strong Biomarker [5]
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⏷ Show the Full List of 9 DOT(s)

References

1 [Evaluation of driving-ability in handicapped]. Beitr Orthop Traumatol. 1975 Feb;22(2):134-5.
2 Management of tooth extraction in a patient with ELANE gene mutation-induced cyclic neutropenia: A case report.Medicine (Baltimore). 2019 Sep;98(39):e17372. doi: 10.1097/MD.0000000000017372.
3 Combination of LIM-kinase 2 and Jun Amino-terminal Kinase Inhibitors Improves Erectile Function in a Rat Model of Cavernous Nerve Injury.Urology. 2019 Sep;131:136-143. doi: 10.1016/j.urology.2019.06.005. Epub 2019 Jun 13.
4 Sonic hedgehog regulation of cavernous nerve regeneration and neurite formation in aged pelvic plexus.Exp Neurol. 2019 Feb;312:10-19. doi: 10.1016/j.expneurol.2018.11.001. Epub 2018 Nov 2.
5 Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient.Mol Med Rep. 2012 Sep;6(3):667-9. doi: 10.3892/mmr.2012.950. Epub 2012 Jun 15.
6 A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.J Clin Immunol. 2013 Nov;33(8):1403-6. doi: 10.1007/s10875-013-9945-7. Epub 2013 Oct 9.
7 Implication of LRRC4C and DPP6 in neurodevelopmental disorders.Am J Med Genet A. 2017 Feb;173(2):395-406. doi: 10.1002/ajmg.a.38021. Epub 2016 Oct 19.
8 C4B3 allotype with a novel Ch phenotype.Immunogenetics. 1985;22(6):609-16. doi: 10.1007/BF00430309.
9 17-Estradiol is required for the sexually dimorphic effects of repeated binge-pattern alcohol exposure on the HPA axis during adolescence.PLoS One. 2012;7(2):e32263. doi: 10.1371/journal.pone.0032263. Epub 2012 Feb 22.
10 Apical-to-basolateral transepithelial transport of cow's milk caseins by intestinal Caco-2 cell monolayers: MS-based quantitation of cellularly degraded - and -casein fragments.J Biochem. 2018 Aug 1;164(2):113-125. doi: 10.1093/jb/mvy034.
11 Characterisation of Neutropenia-Associated Neutrophil Elastase Mutations in a Murine Differentiation Model In Vitro and In Vivo.PLoS One. 2016 Dec 12;11(12):e0168055. doi: 10.1371/journal.pone.0168055. eCollection 2016.
12 Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.PLoS One. 2012;7(9):e46008. doi: 10.1371/journal.pone.0046008. Epub 2012 Sep 24.