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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]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMucolipidosis

Disease
- Non-Neoplastic Disorder
  - Non-Neoplastic Disorder by Special Category
    - Metabolic disease
      - Carbohydrate metabolism disease
        Inborn carbohydrate metabolic disorder
        Mucolipidosis
        Deficiency of N-acetylglucosamine-1-phosphotransferase
        GNPTG-mucolipidosis
        Mucolipidosis type II
        Mucolipidosis Type IIIA
        Mucolipidosis type IV
        Sialidosis
        Sialidosis type 1
        Sialidosis type 2
        Congenital sialidosis type 2
        Juvenile sialidosis type 2

Follow this link to review classifications for Mucolipidosis in Orphanet.

Professional guidelines

PubMed

Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade-long experience.

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

Differential diagnosis portfolio of a pediatric rheumatologist: eight cases, eight stories.

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

Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients.

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

See all (27)

Recent clinical studies

Etiology

Lysosomal storage diseases.

Burlina AP, Manara R, Gueraldi D
Handb Clin Neurol 2024;204:147-172. doi: 10.1016/B978-0-323-99209-1.00008-9. PMID: 39322377

Facial features of lysosomal storage disorders.

D'Souza A, Ryan E, Sidransky E
Expert Rev Endocrinol Metab 2022 Nov;17(6):467-474. Epub 2022 Nov 16 doi: 10.1080/17446651.2022.2144229. PMID: 36384353 Free PMC Article

GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway.

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: 36096887 Free PMC Article

The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection.

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: 36074821 Free PMC Article

Site-1 protease and lysosomal homeostasis.

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

See all (210)

Diagnosis

Mucolipidoses Overview: Past, Present, and Future.

Khan SA, Tomatsu SC
Int J Mol Sci 2020 Sep 17;21(18) doi: 10.3390/ijms21186812. PMID: 32957425 Free PMC Article

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

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: 32483926 Free PMC Article

TRPML3.

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

Mucolipidosis type IV: an update.

Wakabayashi K, Gustafson AM, Sidransky E, Goldin E
Mol Genet Metab 2011 Nov;104(3):206-13. Epub 2011 Jun 16 doi: 10.1016/j.ymgme.2011.06.006. PMID: 21763169 Free PMC Article

Mucopolysaccharidosis VI.

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: 20385007 Free PMC Article

See all (304)

Therapy

AAV-mediated gene therapy for sialidosis.

van de Vlekkert D, Hu H, Weesner JA, Fremuth LE, Brown SA, Lu M, Gomero E, Campos Y, Sheppard H, d'Azzo A
Mol Ther 2024 Jul 3;32(7):2094-2112. Epub 2024 May 25 doi: 10.1016/j.ymthe.2024.05.029. PMID: 38796704 Free PMC Article

Gene therapy corrects the neurological deficits of mice with sialidosis.

Hwu WL, Chang K, Liu YH, Wang HC, Lee NC, Chien YH
Gene Ther 2024 May;31(5-6):263-272. Epub 2024 Feb 7 doi: 10.1038/s41434-024-00443-3. PMID: 38321198

Mucolipidosis: A mimicker of juvenile idiopathic arthritis.

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

AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.

Ko AR, Jin DK, Cho SY, Park SW, Przybylska M, Yew NS, Cheng SH, Kim JS, Kwak MJ, Kim SJ, Sohn YB
Mol Genet Metab 2016 Apr;117(4):447-55. Epub 2016 Feb 3 doi: 10.1016/j.ymgme.2016.02.001. PMID: 26857995

Quantitative neuroimaging in mucolipidosis type IV.

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: 24332805 Free PMC Article

See all (18)

Prognosis

Progress in elucidating pathophysiology of mucolipidosis IV.

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: 33965501 Free PMC Article

Differential diagnosis portfolio of a pediatric rheumatologist: eight cases, eight stories.

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

The mucolipin-2 (TRPML2) ion channel: a tissue-specific protein crucial to normal cell function.

Cuajungco MP, Silva J, Habibi A, Valadez JA
Pflugers Arch 2016 Feb;468(2):177-92. Epub 2015 Sep 4 doi: 10.1007/s00424-015-1732-2. PMID: 26336837 Free PMC Article

Mucopolysaccharidosis VI.

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: 20385007 Free PMC Article

Mucolipins: Intracellular TRPML1-3 channels.

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: 20074572 Free PMC Article

See all (72)

Clinical prediction guides

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.

Hagemeijer MC, van den Bosch JC, Bongaerts M, Jacobs EH, van den Hout JMP, Oussoren E, Ruijter GJG
J Inherit Metab Dis 2023 Mar;46(2):206-219. Epub 2023 Feb 28 doi: 10.1002/jimd.12597. PMID: 36752951

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.

Jezela-Stanek A, Ciara E, Stepien KM
Int J Mol Sci 2020 Jun 26;21(12) doi: 10.3390/ijms21124564. PMID: 32604955 Free PMC Article

Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.

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

Mucolipidosis type IV in a child.

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

Mucolipins: Intracellular TRPML1-3 channels.

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: 20074572 Free PMC Article

See all (130)

Recent systematic reviews

Mucolipidosis type II and type III: a systematic review of 843 published cases.

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

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.

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: 29623569 Free PMC Article

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.

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

See all (3)

MedGen

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Mucolipidosis

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

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