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Juvenile sialidosis type 2

MedGen UID:
1825999
•Concept ID:
C5681598
•
Disease or Syndrome
Synonyms: dysmorphic sialidosis, juvenile form; juvenile 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:0019681
Orphanet: ORPHA93399

Term Hierarchy

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

Professional guidelines

PubMed

Mucolipidosis I: studies of sialidase activity and a prenatal diagnosis.
Mueller OT, Wenger DA
Clin Chim Acta 1981 Feb 5;109(3):313-24. doi: 10.1016/0009-8981(81)90317-x. PMID: 7226521

Recent clinical studies

Etiology

Prevalence of lysosomal storage diseases in Portugal.
Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, Pinto E, Silva E, Rocha S, Marcão A, Ribeiro I, Lacerda L, Ribeiro G, Amaral O, Sá Miranda MC
Eur J Hum Genet 2004 Feb;12(2):87-92. doi: 10.1038/sj.ejhg.5201044. PMID: 14685153
Ultrastructural pathology of human lymphocytes in lysosomal disorders: a contribution to their morphological diagnosis.
Ikeda K, Goebel HH, Burck U, Kohlschütter A
Eur J Pediatr 1982 Mar;138(2):179-85. doi: 10.1007/BF00441150. PMID: 6284508
The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases.
Honey NK, Miller AL, Shows TB
Am J Med Genet 1981;9(3):239-53. doi: 10.1002/ajmg.1320090310. PMID: 7282783
Mucolipidosis I: studies of sialidase activity and a prenatal diagnosis.
Mueller OT, Wenger DA
Clin Chim Acta 1981 Feb 5;109(3):313-24. doi: 10.1016/0009-8981(81)90317-x. PMID: 7226521
beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature.
Suzuki Y, Nakamura N, Fukuoka K, Shimada Y, Uono M
Hum Genet 1977 Apr 15;36(2):219-29. doi: 10.1007/BF00273261. PMID: 404231

Diagnosis

Ultrastructural pathology of human lymphocytes in lysosomal disorders: a contribution to their morphological diagnosis.
Ikeda K, Goebel HH, Burck U, Kohlschütter A
Eur J Pediatr 1982 Mar;138(2):179-85. doi: 10.1007/BF00441150. PMID: 6284508
The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases.
Honey NK, Miller AL, Shows TB
Am J Med Genet 1981;9(3):239-53. doi: 10.1002/ajmg.1320090310. PMID: 7282783
Mucolipidosis I: studies of sialidase activity and a prenatal diagnosis.
Mueller OT, Wenger DA
Clin Chim Acta 1981 Feb 5;109(3):313-24. doi: 10.1016/0009-8981(81)90317-x. PMID: 7226521
Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides.
Gravel RA, Lowden JA, Callahan JW, Wolfe LS, Ng Yin Kin NM
Am J Hum Genet 1979 Nov;31(6):669-79. PMID: 117700Free PMC Article

Prognosis

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

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
Ultrastructural pathology of human lymphocytes in lysosomal disorders: a contribution to their morphological diagnosis.
Ikeda K, Goebel HH, Burck U, Kohlschütter A
Eur J Pediatr 1982 Mar;138(2):179-85. doi: 10.1007/BF00441150. PMID: 6284508
The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases.
Honey NK, Miller AL, Shows TB
Am J Med Genet 1981;9(3):239-53. doi: 10.1002/ajmg.1320090310. PMID: 7282783

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