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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMannosidase deficiency; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Mannosidase deficiency comprising 12 curated genes according to the clinical signs

ID
MP0259
Number of loci
Loci typeCount
Gen12
Accredited laboratory test
Examined sequence length
3,1 kb (Core-/Core-canditate-Genes)
26,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
MAN2B13036NM_000528.4AR
ABCC94650NM_005691.4AR
ARSB1602NM_000046.5AR
GALNS1569NM_000512.5AR
GLB12034NM_000404.4AR
GNE2262NM_001128227.3AR
GNPTAB3771NM_024312.5AR
GUSB1956NM_000181.4AR
IDS1653NM_000202.8XLR
KCNJ81275NM_004982.4AD
NEU11248NM_000434.4AR
SUMF11125NM_182760.4AR

Informations about the disease

Synonyms
  • Alias: Alpha-Mannosidose (MAN2B1)
  • Alias: Alpha-mannosidase B deficiency
  • Alias: Beta-mannosidosis
  • Alias: Lysosomal alpha-D-mannosidase deficiency
  • Alias: Lysosomal beta-mannosidase deficiency
  • Allelic: Atrial fibrillation, familial, 12 (ABCC9)
  • Allelic: Cardiomyopathy, dilated, 1O (ABCC9)
  • Allelic: Nonaka myopathy (GNE)
  • Cantu syndrome (ABCC9, KCNJ8)
  • GM1-gangliosidosis, type I - III (GLB1)
  • Hypertrichotic osteochondrodysplasia (ABCC9)
  • Mannosidosis, alpha-, types I + II (MAN2B1)
  • Mannosidosis, beta (MANBA)
  • Mucolipidosis II alpha/beta (GNPTAB)
  • Mucolipidosis III alpha/beta (GNPTAB)
  • Mucopolysaccharidosis II (IDS)
  • Mucopolysaccharidosis IVA (GALNS)
  • Mucopolysaccharidosis Ih (IDUA)
  • Mucopolysaccharidosis Ih/s (IDUA)
  • Mucopolysaccharidosis Is (IDUA)
  • Mucopolysaccharidosis VII (GUSB)
  • Mucopolysaccharidosis type IVB [Morquio] (GLB1)
  • Mucopolysaccharidosis type VI [Maroteaux-Lamy] (ARSB)
  • Multiple sulfatase deficiency (SUMF1)
  • Sialidosis, type I (NEU1)
  • Sialidosis, type II (NEU1)
  • Sialuria (GNE)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined