Klinische FragestellungMukolipidosen, Differentialdiagnosen

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Mukolipidosen mit 4 "core candidate"-Genen bzw. insgesamt 22 kuratierten Genen gemäß klinischer Verdachtsdiagnose

MP0100

Anzahl Gene

6 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

7,7 kb (Core-/Core-canditate-Gene)
13,3 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Material

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
GNPTAB	3771	607840	NM_024312.5	AR
GNPTG	918	607838	NM_032520.5	AR
MCOLN1	1743	605248	NM_020533.3	AR
NEU1	1248	608272	NM_000434.4	AR
COL2A1	4464	120140	NM_001844.5	AD
SUMF1	1125	607939	NM_182760.4	AR

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Erkrankungen

Synonyme

Alias: Achondrogenesis, Langer-Saldino type (COL2A1)
Alias: Hypochondrogenesis (COL2A1)
Alias: Infantile sialidosis, formerly called sialidosis II or mucolipidosis I
Alias: Mucolipidosis III, complementation group C
Alias: Sialolipidosis, type I + II
Allelic: Avascular necrosis of the femoral head (COL2A1)
Allelic: Carpal tunnel syndrome 2 (COMP)
Allelic: Intervertebral disc disease, susceptibility to (COL9A3)
Allelic: Osteoarthritis susceptibility 2 (MATN)
Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
Achondrogenesis Ib (SLC26A2)
Achondrogenesis type II or hypochondrogenesis (COL2A1)
Atelosteogenesis, type II (SLC26A2)
Czech dysplasia (COL2A1)
De la Chapelle dysplasia (SLC26A2)
Diastrophic dysplasia (SLC26A2)
Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
Epiphyseal dysplasia, multiple, 1 (COMP)
Epiphyseal dysplasia, multiple, 2 (COL9A2)
Epiphyseal dysplasia, multiple, 3, with/-out myopathy (COL9A3)
Epiphyseal dysplasia, multiple, 4 (SLC26A2)
Epiphyseal dysplasia, multiple, 5 (MATN)
Epiphyseal dysplasia, multiple, 6 (COL9A1)
Epiphyseal dysplasia, multiple, myopia + deafness (COL2A1)
GM1-gangliosidosis, type I, II, III (GLB1)
Galactosialidosis (CTSA)
Kniest dysplasia (COL2A1)
Legg-Calve-Perthes disease (COL2A1)
Mannosidosis, alpha-, types I + II (MAN2B1)
Mucolipidosis II alpha/beta + III alpha/beta (GNPTAB)
Mucolipidosis III gamma (GNPTG)
Mucolipidosis III, [Iranian] variant form (GNPTG)
Mucolipidosis IV (MCOLN1)
Mucopolysaccharidosis II (IDS)
Mucopolysaccharidosis IVA (GALNS)
Mucopolysaccharidosis IVB, Morquio (GLB1)
Mucopolysaccharidosis Ih (IDUA)
Mucopolysaccharidosis Ih/s (IDUA)
Mucopolysaccharidosis Is (IDUA)
Mucopolysaccharidosis VI, Maroteaux-Lamy (ARSB)
Mucopolysaccharidosis VII (GUSB)
Multiple sulfatase deficiency (SUMF1)
Osteoarthritis with mild chondrodysplasia (COL2A1)
Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
Progressive pseudorheumatoid dysplasia (CCN6)
Pseudoachondroplasia (COMP)
SED congenita (COL2A1)
SMED Strudwick type (COL2A1)
Salla disease (SLC17A5)
Sialic acid storage disorder, infantile (SLC17A5)
Sialidosis, type I + II (NEU1)
Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MATN)
Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
Spondyloperipheral dysplasia (COL2A1)
Stickler syndrome, type I (COL2A1)
Stickler syndrome, type I, nonsyndromic ocular (COL2A1)
Stickler syndrome, type IV (COL9A1)
Stickler syndrome, type V (COL9A2)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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