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Mucolipidosis

MedGen UID:
7731
Concept ID:
C0026697
Disease or Syndrome
Synonym: Mucolipidoses
SNOMED CT: Mucolipidosis (70528007)
 
Monarch Initiative: MONDO:0019248
Orphanet: ORPHA79212

Definition

A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. [from NCI]

Professional guidelines

PubMed

Ellinwood NM
Am J Med Genet C Semin Med Genet 2022 Jun;190(2):156-161. Epub 2022 Sep 22 doi: 10.1002/ajmg.c.32001. PMID: 36135708
Çakan M, Karadağ ŞG, Ayaz NA
Clin Rheumatol 2021 Feb;40(2):769-774. Epub 2020 Jul 12 doi: 10.1007/s10067-020-05287-x. PMID: 32656661
Tüysüz B, Kasapçopur Ö, Alkaya DU, Şahin S, Sözeri B, Yeşil G
Gene 2018 Feb 5;642:398-407. Epub 2017 Nov 21 doi: 10.1016/j.gene.2017.11.052. PMID: 29170090

Recent clinical studies

Etiology

Zhang W, Yang X, Li Y, Yu L, Zhang B, Zhang J, Cho WJ, Venkatarangan V, Chen L, Burugula BB, Bui S, Wang Y, Duan C, Kitzman JO, Li M
Nat Commun 2022 Sep 12;13(1):5351. doi: 10.1038/s41467-022-33025-1. PMID: 36096887Free PMC Article
Richards CM, Jabs S, Qiao W, Varanese LD, Schweizer M, Mosen PR, Riley NM, Klüssendorf M, Zengel JR, Flynn RA, Rustagi A, Widen JC, Peters CE, Ooi YS, Xie X, Shi PY, Bartenschlager R, Puschnik AS, Bogyo M, Bertozzi CR, Blish CA, Winter D, Nagamine CM, Braulke T, Carette JE
Science 2022 Oct 7;378(6615):eabn5648. doi: 10.1126/science.abn5648. PMID: 36074821Free PMC Article
Fine M, Li X, Dang S
Cell Calcium 2020 Mar;86:102107. Epub 2019 Nov 22 doi: 10.1016/j.ceca.2019.102107. PMID: 31841954
Velho RV, De Pace R, Klünder S, Di Lorenzo G, Schweizer M, Braulke T, Pohl S
Biochim Biophys Acta Mol Cell Res 2017 Nov;1864(11 Pt B):2162-2168. Epub 2017 Jul 8 doi: 10.1016/j.bbamcr.2017.06.023. PMID: 28693924
Bach G
Mol Genet Metab 2001 Jul;73(3):197-203. doi: 10.1006/mgme.2001.3195. PMID: 11461186

Diagnosis

Loret A, Jacob C, Mammou S, Bigot A, Blasco H, Audemard-Verger A, Schwartz IV, Mulleman D, Maillot F
Orphanet J Rare Dis 2023 Aug 10;18(1):239. doi: 10.1186/s13023-023-02810-6. PMID: 37563694Free PMC Article
Khan SA, Tomatsu SC
Int J Mol Sci 2020 Sep 17;21(18) doi: 10.3390/ijms21186812. PMID: 32957425Free PMC Article
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J
Acta Ophthalmol 2020 Dec;98(8):e1034-e1048. Epub 2020 Jun 1 doi: 10.1111/aos.14479. PMID: 32483926Free PMC Article
Grimm C, Barthmes M, Wahl-Schott C
Handb Exp Pharmacol 2014;222:659-74. doi: 10.1007/978-3-642-54215-2_26. PMID: 24756725
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article

Therapy

Chopra S, Maheshwari A, Verma A, Kannepalli A, Mahto D
Int J Rheum Dis 2023 Jul;26(7):1363-1367. Epub 2023 Mar 3 doi: 10.1111/1756-185X.14620. PMID: 36869440
Flint M, Chatterjee P, Lin DL, McMullan LK, Shrivastava-Ranjan P, Bergeron É, Lo MK, Welch SR, Nichol ST, Tai AW, Spiropoulou CF
Nat Commun 2019 Jan 17;10(1):285. doi: 10.1038/s41467-018-08135-4. PMID: 30655525Free PMC Article
Zhang H, Yang R, Wang Y, Ye J, Han L, Qiu W, Gu X
J Hum Genet 2015 Dec;60(12):769-76. Epub 2015 Sep 17 doi: 10.1038/jhg.2015.112. PMID: 26377240
Schiffmann R, Mayfield J, Swift C, Nestrasil I
Mol Genet Metab 2014 Feb;111(2):147-51. Epub 2013 Nov 21 doi: 10.1016/j.ymgme.2013.11.007. PMID: 24332805Free PMC Article
Semenza GL, Pyeritz RE
Medicine (Baltimore) 1988 Jul;67(4):209-19. doi: 10.1097/00005792-198807000-00002. PMID: 3134589

Prognosis

Misko A, Wood L, Kiselyov K, Slaugenhaupt S, Grishchuk Y
Neurosci Lett 2021 Jun 11;755:135944. Epub 2021 May 11 doi: 10.1016/j.neulet.2021.135944. PMID: 33965501Free PMC Article
Çakan M, Karadağ ŞG, Ayaz NA
Clin Rheumatol 2021 Feb;40(2):769-774. Epub 2020 Jul 12 doi: 10.1007/s10067-020-05287-x. PMID: 32656661
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article
Cheng X, Shen D, Samie M, Xu H
FEBS Lett 2010 May 17;584(10):2013-21. Epub 2010 Jan 13 doi: 10.1016/j.febslet.2009.12.056. PMID: 20074572Free PMC Article
Sphranger J, Gehler J, Cantz M
Am J Med Genet 1977;1(1):21-9. doi: 10.1002/ajmg.1320010104. PMID: 610423

Clinical prediction guides

Jezela-Stanek A, Ciara E, Stepien KM
Int J Mol Sci 2020 Jun 26;21(12) doi: 10.3390/ijms21124564. PMID: 32604955Free PMC Article
Cougnoux A, Drummond RA, Fellmeth M, Navid F, Collar AL, Iben J, Kulkarni AB, Pickel J, Schiffmann R, Wassif CA, Cawley NX, Lionakis MS, Porter FD
J Neuroinflammation 2019 Dec 28;16(1):276. doi: 10.1186/s12974-019-1672-4. PMID: 31883529Free PMC Article
Ceroni JRM, Spolador GM, Bermeo DS, Honjo RS, de Oliveira LAN, Bertola DR, Kim CA
Skeletal Radiol 2019 Aug;48(8):1201-1207. Epub 2019 Feb 2 doi: 10.1007/s00256-019-3159-x. PMID: 30712120
Chaer L, Harissi-Dagher M, Soucy JF, Ellezam B, Hamel P
J AAPOS 2018 Dec;22(6):469-471. Epub 2018 Aug 16 doi: 10.1016/j.jaapos.2018.04.011. PMID: 30120981
Cheng X, Shen D, Samie M, Xu H
FEBS Lett 2010 May 17;584(10):2013-21. Epub 2010 Jan 13 doi: 10.1016/j.febslet.2009.12.056. PMID: 20074572Free PMC Article

Recent systematic reviews

Dogterom EJ, Wagenmakers MAEM, Wilke M, Demirdas S, Muschol NM, Pohl S, Meijden JCV, Rizopoulos D, Ploeg ATV, Oussoren E
Genet Med 2021 Nov;23(11):2047-2056. Epub 2021 Jun 25 doi: 10.1038/s41436-021-01244-4. PMID: 34172897
Pantel JT, Zhao M, Mensah MA, Hajjir N, Hsieh TC, Hanani Y, Fleischer N, Kamphans T, Mundlos S, Gurovich Y, Krawitz PM
J Inherit Metab Dis 2018 May;41(3):533-539. Epub 2018 Apr 5 doi: 10.1007/s10545-018-0174-3. PMID: 29623569Free PMC Article
Autti T, Joensuu R, Aberg L
Neuroradiology 2007 Jul;49(7):571-8. Epub 2007 Mar 3 doi: 10.1007/s00234-007-0220-6. PMID: 17334752

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