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Congenital sialidosis type 2

MedGen UID:
1843300
•Concept ID:
C5681599
•
Disease or Syndrome
Synonym: congenital sialidosis type 2
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: 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 (Orphanet)
 
Monarch Initiative: MONDO:0019682
Orphanet: ORPHA93400

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital sialidosis type 2

Professional guidelines

PubMed

Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene.
Sergi C, Penzel R, Uhl J, Zoubaa S, Dietrich H, Decker N, Rieger P, Kopitz J, Otto HF, Kiessling M, Cantz M
Hum Genet 2001 Oct;109(4):421-8. doi: 10.1007/s004390100592. PMID: 11702224

Recent clinical studies

Etiology

MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease.
Girard M, Lacaille F, Verkarre V, Mategot R, Feldmann G, Grodet A, Sauvat F, Irtan S, Davit-Spraul A, Jacquemin E, Ruemmele F, Rainteau D, Goulet O, Colomb V, Chardot C, Henrion-Caude A, Debray D
Hepatology 2014 Jul;60(1):301-10. Epub 2014 May 27 doi: 10.1002/hep.26974. PMID: 24375397
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.
Itoh K, Naganawa Y, Matsuzawa F, Aikawa S, Doi H, Sasagasako N, Yamada T, Kira J, Kobayashi T, Pshezhetsky AV, Sakuraba H
J Hum Genet 2002;47(1):29-37. doi: 10.1007/s10038-002-8652-7. PMID: 11829139
Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene.
Sergi C, Penzel R, Uhl J, Zoubaa S, Dietrich H, Decker N, Rieger P, Kopitz J, Otto HF, Kiessling M, Cantz M
Hum Genet 2001 Oct;109(4):421-8. doi: 10.1007/s004390100592. PMID: 11702224

Diagnosis

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
Challenges of Microvillus Inclusion Disease in the NICU.
Badawy A, Elfadul M, Aziabi M, Ageel HI, Aqeel A
Neoreviews 2020 Sep;21(9):e600-e604. doi: 10.1542/neo.21-9-e600. PMID: 32873653
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
Caciotti A, Melani F, Tonin R, Cellai L, Catarzi S, Procopio E, Chilleri C, Mavridou I, Michelakakis H, Fioravanti A, d'Azzo A, Guerrini R, Morrone A
Mol Genet Metab 2020 Feb;129(2):47-58. Epub 2019 Oct 31 doi: 10.1016/j.ymgme.2019.09.005. PMID: 31711734
Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene.
Sergi C, Penzel R, Uhl J, Zoubaa S, Dietrich H, Decker N, Rieger P, Kopitz J, Otto HF, Kiessling M, Cantz M
Hum Genet 2001 Oct;109(4):421-8. doi: 10.1007/s004390100592. PMID: 11702224
Diagnostic role of skin or conjunctival biopsies in neurological disorders. An update.
Ceuterick C, Martin JJ
J Neurol Sci 1984 Aug;65(2):179-91. doi: 10.1016/0022-510x(84)90082-0. PMID: 6434701

Prognosis

UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu des Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-Dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-Lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-Bensussan N, Parlato M
J Clin Invest 2022 May 16;132(10) doi: 10.1172/JCI154997. PMID: 35575086Free PMC Article
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.
Itoh K, Naganawa Y, Matsuzawa F, Aikawa S, Doi H, Sasagasako N, Yamada T, Kira J, Kobayashi T, Pshezhetsky AV, Sakuraba H
J Hum Genet 2002;47(1):29-37. doi: 10.1007/s10038-002-8652-7. PMID: 11829139

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
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu des Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-Dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-Lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-Bensussan N, Parlato M
J Clin Invest 2022 May 16;132(10) doi: 10.1172/JCI154997. PMID: 35575086Free PMC Article
Glucocorticoids and myosin5b loss of function induce heightened PKA signaling in addition to membrane traffic defects.
Forteza R, Ahsan MK, Cartón-García F, Arango D, Ameen NA, Salas PJ
Mol Biol Cell 2019 Dec 15;30(26):3076-3089. Epub 2019 Oct 30 doi: 10.1091/mbc.E18-07-0415. PMID: 31664880Free PMC Article
Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease.
Knowles BC, Roland JT, Krishnan M, Tyska MJ, Lapierre LA, Dickman PS, Goldenring JR, Shub MD
J Clin Invest 2014 Jul;124(7):2947-62. Epub 2014 Jun 2 doi: 10.1172/JCI71651. PMID: 24892806Free PMC Article
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.
Itoh K, Naganawa Y, Matsuzawa F, Aikawa S, Doi H, Sasagasako N, Yamada T, Kira J, Kobayashi T, Pshezhetsky AV, Sakuraba H
J Hum Genet 2002;47(1):29-37. doi: 10.1007/s10038-002-8652-7. PMID: 11829139

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