IllnessMannosidase deficiency; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Mannosidase deficiency comprising 1 guideline-curated gene and altogether 13 curated genes according to the clinical signs

MP0259

Number of genes

12 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

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Heredity
MAN2B1	3036	609458	AR
ABCC9	4650	601439	AR
ARSB	1602	611542	AR
GALNS	1569	612222	AR
GLB1	2034	611458	AR
GNE	2262	603824	AR
GNPTAB	3771	607840	AR
GUSB	1956	611499	AR
IDS	1653	300823	XLR
KCNJ8	1275	600935	AD
NEU1	1248	608272	AR
SUMF1	1125	607939	AR

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

E88.-

Bioinformatics and clinical interpretation

No text defined