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Nasu-Hakola disease

MedGen UID:
387795
Concept ID:
C1857316
Disease or Syndrome
Synonyms: Brain-bone-fat disease; Dementia, prefrontal, with bone cysts; Dementia, progressive, with lipomembranous polycystic osteodysplasia; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; Presenile dementia with bone cysts
SNOMED CT: Presenile dementia with bone cysts (702347001); PLOSL - polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (702347001); Nasu-Hakola disease (702347001); Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (702347001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Monarch Initiative: MONDO:0009092
OMIM® Phenotypic series: PS221770
Orphanet: ORPHA2770

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNasu-Hakola disease
Follow this link to review classifications for Nasu-Hakola disease in Orphanet.

Recent clinical studies

Etiology

Dardiotis E, Siokas V, Pantazi E, Dardioti M, Rikos D, Xiromerisiou G, Markou A, Papadimitriou D, Speletas M, Hadjigeorgiou GM
Neurobiol Aging 2017 May;53:194.e13-194.e22. Epub 2017 Jan 20 doi: 10.1016/j.neurobiolaging.2017.01.015. PMID: 28214109
Bailey CC, DeVaux LB, Farzan M
J Biol Chem 2015 Oct 23;290(43):26033-42. Epub 2015 Sep 15 doi: 10.1074/jbc.M115.677286. PMID: 26374897Free PMC Article
Nakamagoe K, Shioya A, Yamaguchi T, Takahashi H, Koide R, Monzen T, Satoh J, Tamaoka A
Intern Med 2011;50(22):2839-44. Epub 2011 Nov 15 doi: 10.2169/internalmedicine.50.5891. PMID: 22082900
Numasawa Y, Yamaura C, Ishihara S, Shintani S, Yamazaki M, Tabunoki H, Satoh JI
Eur J Neurol 2011 Sep;18(9):1179-83. Epub 2010 Dec 22 doi: 10.1111/j.1468-1331.2010.03311.x. PMID: 21834902
Paloneva J, Autti T, Raininko R, Partanen J, Salonen O, Puranen M, Hakola P, Haltia M
Neurology 2001 Jun 12;56(11):1552-8. doi: 10.1212/wnl.56.11.1552. PMID: 11402114

Diagnosis

Errichiello E, Dardiotis E, Mannino F, Paloneva J, Mattina T, Zuffardi O
Front Immunol 2019;10:1685. Epub 2019 Jul 23 doi: 10.3389/fimmu.2019.01685. PMID: 31396216Free PMC Article
Shboul M, Roschger P, Ganger R, Paschalis L, Rokidi S, Zandieh S, Behunova J, Muschitz C, Fahrleitner-Pammer A, Ng AYJ, Tohari S, Venkatesh B, Bonnard C, Reversade B, Klaushofer K, Al Kaissi A
Bone 2019 Jun;123:48-55. Epub 2018 Oct 11 doi: 10.1016/j.bone.2018.10.008. PMID: 30316000
Oyanagi K, Kinoshita M, Suzuki-Kouyama E, Inoue T, Nakahara A, Tokiwai M, Arai N, Satoh JI, Aoki N, Jinnai K, Yazawa I, Arai K, Ishihara K, Kawamura M, Ishizawa K, Hasegawa K, Yagisita S, Amano N, Yoshida K, Terada S, Yoshida M, Akiyama H, Mitsuyama Y, Ikeda SI
Brain Pathol 2017 Nov;27(6):748-769. Epub 2017 Mar 2 doi: 10.1111/bpa.12443. PMID: 27608278
Kilic SA, Oner AY, Yuce C, Ozlu IC
Clin Imaging 2012 Nov-Dec;36(6):877-80. Epub 2012 Jun 8 doi: 10.1016/j.clinimag.2012.01.036. PMID: 23154029
Kaneko M, Sano K, Nakayama J, Amano N
Neuropathology 2010 Oct;30(5):463-70. doi: 10.1111/j.1440-1789.2010.01127.x. PMID: 20500450

Therapy

Öhrfelt A, Axelsson M, Malmeström C, Novakova L, Heslegrave A, Blennow K, Lycke J, Zetterberg H
Mult Scler 2016 Oct;22(12):1587-1595. Epub 2016 Jan 11 doi: 10.1177/1352458515624558. PMID: 26754805
Penberthy WT
Curr Drug Metab 2007 Apr;8(3):245-66. doi: 10.2174/138920007780362545. PMID: 17430113

Prognosis

Dash R, Choi HJ, Moon IS
Sci Rep 2020 Feb 27;10(1):3663. doi: 10.1038/s41598-020-60561-x. PMID: 32107424Free PMC Article
Solje E, Hartikainen P, Valori M, Vanninen R, Tiihonen J, Hakola P, Tienari PJ, Remes AM
Neurobiol Aging 2014 Jul;35(7):1780.e13-7. Epub 2014 Feb 5 doi: 10.1016/j.neurobiolaging.2014.01.149. PMID: 24612676
Madry H, Prudlo J, Grgic A, Freyschmidt J
Clin Orthop Relat Res 2007 Jan;454:262-9. doi: 10.1097/01.blo.0000229364.57985.df. PMID: 16906106
Haruta K, Matsunaga S, Ito H, Hayashi K, Yokouchi M, Onishi T, Komiya S
Oncol Rep 2003 Jul-Aug;10(4):1007-10. PMID: 12792761
Paloneva J, Autti T, Raininko R, Partanen J, Salonen O, Puranen M, Hakola P, Haltia M
Neurology 2001 Jun 12;56(11):1552-8. doi: 10.1212/wnl.56.11.1552. PMID: 11402114

Clinical prediction guides

Dash R, Choi HJ, Moon IS
Sci Rep 2020 Feb 27;10(1):3663. doi: 10.1038/s41598-020-60561-x. PMID: 32107424Free PMC Article
Galimberti D, Fenoglio C, Ghezzi L, Serpente M, Arcaro M, D'Anca M, De Riz M, Arighi A, Fumagalli GG, Pietroboni AM, Piccio L, Scarpini E
Cytokine 2019 Apr;116:115-119. Epub 2019 Jan 25 doi: 10.1016/j.cyto.2018.12.024. PMID: 30690291
Oyanagi K, Kinoshita M, Suzuki-Kouyama E, Inoue T, Nakahara A, Tokiwai M, Arai N, Satoh JI, Aoki N, Jinnai K, Yazawa I, Arai K, Ishihara K, Kawamura M, Ishizawa K, Hasegawa K, Yagisita S, Amano N, Yoshida K, Terada S, Yoshida M, Akiyama H, Mitsuyama Y, Ikeda SI
Brain Pathol 2017 Nov;27(6):748-769. Epub 2017 Mar 2 doi: 10.1111/bpa.12443. PMID: 27608278
Ohgidani M, Kato TA, Setoyama D, Sagata N, Hashimoto R, Shigenobu K, Yoshida T, Hayakawa K, Shimokawa N, Miura D, Utsumi H, Kanba S
Sci Rep 2014 May 14;4:4957. doi: 10.1038/srep04957. PMID: 24825127Free PMC Article
Solje E, Hartikainen P, Valori M, Vanninen R, Tiihonen J, Hakola P, Tienari PJ, Remes AM
Neurobiol Aging 2014 Jul;35(7):1780.e13-7. Epub 2014 Feb 5 doi: 10.1016/j.neurobiolaging.2014.01.149. PMID: 24612676

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