©istock.com/Andrea Obzerova
Interdisziplinäre KompetenzMolekulare Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patienten.

ErkrankungKongenitale Störungen der Glykosylierung, CDG; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Kongenitale Störungen der Glykosylierung 15 bzw. zusammen genommen 104 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
KP5598
Anzahl Gene
88 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
20,7 kb (Core-/Basis-Gene)
142,2 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ALG11395AR
ALG31173AR
ALG61524AR
COG52472AR
COG61848AR
DPAGT11227AR
DPM1783AR
MPI1272AR
NGLY11911AR
PGM31713AR
PMM2741AR
RFT11626AR
SRD5A3957AR
TMEM165975AR
TUSC31047AR
ALG111479AR
ALG121467AR
ALG13417XLD
ALG21251AR
ALG81404AD und/oder AR
ALG91858AD und/oder AR
ATP6AP11423XLR
ATP6V0A22571AR
B3GALNT21503AR
B3GALT6990AR
B3GAT31008AR
B3GLCT1497AR
B4GALT11197AR
B4GALT7984AR
CAD6774AR
CCDC115645AR
CHST141131AR
CHST31440AR
CHST61188AR
CHSY12409AR
COG12943AR
COG22214AR
COG42295AD und/oder AR
COG72313AR
COG81839AR
CRPPA1356AR
DDOST1371AR
DHDDS900AD und/oder AR
DOLK1617AR
DPM2255AR
DPM3369AR
EXT12241AD und/oder Ass
EXT22157AD und/oder AR
FKRP1488AR
FKTN1386AR
FUT81239AR
GALNT31902AR
GFPT12046AR
GMPPA1263AR
GMPPB1164AR
GNE2262AD und/oder AR
LARGE12271AR
MAGT11104XLR
MAN1B12100AR
MGAT21344AR
MOGS2196AR
MPDU1744AR
PGAP2765AR
PGAP3963AR
PGM11743AR
PIGA1455XLR
PIGL759AR
PIGN2796AR
PIGO3270AR
PIGT1737AD und/oder AR
PIGV1482AR
POMGNT11983AR
POMGNT21743AR
POMT12244AR
POMT22253AR
RXYLT11355AR
SEC23B2304AD und/oder AR
SLC35A1837AR
SLC35A21182XLD
SLC35C11056AR
SLC35D11068AR
SLC39A81645AR
SSR4555XLR
ST3GAL51188AR
STT3A2118AR
STT3B2481AR
XYLT12880AR
XYLT22598AR

Infos zur Erkrankung

Klinischer Kommentar

Kongenitale Störungen der Glykosylierung (CDGs) ist ein Überbegriff für eine schnell wachsende Gruppe von >60 seltenen genetischen Stoffwechselstörungen, die auf Defekten bei der komplexen Glykosylierung beruht. Die verschiedenen Entitäten dieser Defekt-Gruppe werden je nach betroffenem Syntheseweg in Störungen der Protein-N-Glykosylierung, Störungen der Protein-O-Glykosylierung, Störungen der Mehrfach-Glykosylierung und Störungen der Glykosphingolipid- und Glykosylphosphatidylinositol-Ankerglykosylierung unterteilt. An diesen Glykosylierungsprozessen sind viele verschiedene Gene beteiligt. Ein Mangel oder das Fehlen eines dieser Enzyme kann zu einer Vielzahl von Symptomen führen, die möglicherweise mehrere Organsysteme betreffen. CDGs können jeden Körperteil betreffen, und fast immer gibt es wichtige neurologische Mitbeteiligungen. CDGs können mit einer Vielzahl von Symptomen einhergehen und in ihrem Schweregrad von leichten Beeinträchtigungen bis hin zu schweren, behindernden oder lebensbedrohlichen Fällen variieren. Symptome der CDGs zeigen sich meist schon im Kindesalter. Die Mutationsfrequenzen in den betreffenden CDG-Genen unterscheiden sich z.T. ganz erheblich zwischen verschiedenen Populationen. Die meisten CDGs werden autosomal rezessiv vererbt. Die DNA-diagnostische Ausbeute übertrifft insgesamt kaum 30-40%. Damit stellt ein negatives molekulargenetisches Ergebnis keinen Ausschluss der klinischen Diagnose dar.

Referenzen: https://www.ncbi.nlm.nih.gov/books/NBK1332/

https://www.ncbi.nlm.nih.gov/books/NBK1110/

https://www.ncbi.nlm.nih.gov/books/NBK5200/

https://www.ncbi.nlm.nih.gov/books/NBK481554/

 

Synonyme
  • Allelic: Cardiomyopathy, dilated, 1X (FKTN)
  • Allelic: Chondrosarcoma (EXT1)
  • Allelic: Cowden syndrome 7 (SEC23B)
  • Allelic: Polycystic liver disease 3 with/-out kidney cysts (ALG8)
  • Allelic: Pseudoxanthoma elasticum, modifier of severity of (XYLT1, XYLT2)
  • Allelic: Retinitis pigmentosa 59 (DHDDS)
  • Allelic: Retinitis pigmentosa 76 (POMGNT1)
  • Adams-Oliver syndrome 4 (EOGT)
  • Al-Gazali syndrome (B3GALT6)
  • Alacrima, achalasia, and mental retardation syndrome (GMPPA)
  • CHIME (Coloboma, cong. Heart defects, Ichthyosif. Migrat. dermatosis, ID, Ear anom.) syndrome (PIGL)
  • Congenital disorder of deglycosylation (NGLY1)
  • Congenital disorder of glycosylation [panelapp] (SSR3)
  • Congenital disorder of glycosylation with defective fucosylation 1 (FUT8)
  • Congenital disorder of glycosylation with defective fucosylation 2 (FCSK syn. FUK)
  • Congenital disorder of glycosylation, type IIa (MGAT2)
  • Congenital disorder of glycosylation, type IIb (MOGS)
  • Congenital disorder of glycosylation, type IIc (SLC35C1)
  • Congenital disorder of glycosylation, type IId (B4GALT1)
  • Congenital disorder of glycosylation, type IIe (COG7)
  • Congenital disorder of glycosylation, type IIf (SLC35A1)
  • Congenital disorder of glycosylation, type IIg (COG1)
  • Congenital disorder of glycosylation, type IIh (COG8)
  • Congenital disorder of glycosylation, type IIi (COG5)
  • Congenital disorder of glycosylation, type IIj (COG4)
  • Congenital disorder of glycosylation, type IIk (TMEM165)
  • Congenital disorder of glycosylation, type IIl (COG6)
  • Congenital disorder of glycosylation, type IIm (SLC35A2)
  • Congenital disorder of glycosylation, type IIn (SLC39A8)
  • Congenital disorder of glycosylation, type IIo (CCDC115)
  • Congenital disorder of glycosylation, type IIp (TMEM199)
  • Congenital disorder of glycosylation, type IIq (COG2)
  • Congenital disorder of glycosylation, type IIt (GALNT2)
  • Congenital disorder of glycosylation, type IIv (EDEM3)
  • Congenital disorder of glycosylation, type IIw (SLC37A4)
  • Congenital disorder of glycosylation, type Ia (PMM2)
  • Congenital disorder of glycosylation, type Ibb (DHDDS)
  • Congenital disorder of glycosylation, type Ic (ALG6)
  • Congenital disorder of glycosylation, type Icc (MAGT1)
  • Congenital disorder of glycosylation, type Id (ALG3)
  • Congenital disorder of glycosylation, type Ie (DPM1)
  • Congenital disorder of glycosylation, type Ie (MPI)
  • Congenital disorder of glycosylation, type If (MPDU1)
  • Congenital disorder of glycosylation, type Ig (ALG12)
  • Congenital disorder of glycosylation, type Ih (ALG8)
  • Congenital disorder of glycosylation, type Ii (ALG2)
  • Congenital disorder of glycosylation, type Ij (DPAGT1)
  • Congenital disorder of glycosylation, type Ik (ALG1)
  • Congenital disorder of glycosylation, type Il (ALG9)
  • Congenital disorder of glycosylation, type Im (DOLK)
  • Congenital disorder of glycosylation, type In (RFT1)
  • Congenital disorder of glycosylation, type Ip (ALG11)
  • Congenital disorder of glycosylation, type Iq (SRD5A3)
  • Congenital disorder of glycosylation, type Ir (DDOST)
  • Congenital disorder of glycosylation, type Is (ALG13)
  • Congenital disorder of glycosylation, type It (PGM1)
  • Congenital disorder of glycosylation, type Iu (DPM2)
  • Congenital disorder of glycosylation, type Iw (STT3A)
  • Congenital disorder of glycosylation, type Ix (STT3B)
  • Congenital disorder of glycosylation, type Iy (SSR4)
  • Cutis laxa, Ar, type IIA (ATP6V0A2)
  • Desbuquois dysplasia 2 (XYLT1)
  • Developmental + epileptic encephalopathy 15 (ST3GAL3)
  • Developmental + epileptic encephalopathy 36 (ALG13)
  • Developmental + epileptic encephalopathy 50 (CAD)
  • Developmental + epileptic encephalopathy 95 (PIGS)
  • Developmental delay + seizures with/-out movement abnormalities (DHDDS)
  • Dursun syndrome (G6PC3)
  • Dyserythropoietic anemia, congenital, type II (SEC23B)
  • Ehlers-Danlos syndrome, musculocontractural type 1 (CHST14)
  • Ehlers-Danlos syndrome, spondylodysplastic type, 1 (B4GALT7)
  • Ehlers-Danlos syndrome, spondylodysplastic type, 2 (B3GALT6)
  • Exostoses, multiple, type 1 (EXT1)
  • Exostoses, multiple, type 2 (EXT2)
  • Geroderma osteodysplasticum (GORAB)
  • Gillessen-Kaesbach-Nishimura syndrome (ALG9)
  • Glycogen storage disease Ib (SLC37A4)
  • Glycogen storage disease Ic (SLC37A4)
  • Glycosylphosphatidylinositol biosynthesis defect 11 (PIGW)
  • Glycosylphosphatidylinositol deficiency (PIGM)
  • Hyperphosphatasia with mental retardation syndrome 1 (PIGV)
  • Hyperphosphatasia with mental retardation syndrome 2 (PIGO)
  • Hyperphosphatasia with mental retardation syndrome 3 (PGAP2)
  • Hyperphosphatasia with mental retardation syndrome 4 (PGAP3)
  • Immunodeficiency 23 (PGM3)
  • Immunodeficiency 47 (ATP6AP1)
  • Immunodeficiency, XL, with magnesium defect, Epstein-Barr virus infection + neoplasia (MAGT1)
  • Intellectual developmental disorder + epilepsy, behavioral abnormalities + coarse facies (ALG14)
  • Intellectual developmental disorder, AR 12 (ST3GAL3)
  • Kahrizi syndrome (SRD5A3)
  • Mental retardation, AR 7 (TUSC3)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2 (PIGA)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3 (PIGT)
  • Multiple joint disloc., short stature, craniofacial dysmorph. with/-out cong. heart defects (B3GAT3)
  • Muscular dystrophy, limb-girdle, AR 18 (TRAPPC11)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies, type A, 8 (POMGNT2)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 (POMK)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 10 (TMEM5/RXYLT1)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 11 (B3GALNT2)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 12 (POMK)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 14 (GMPPB)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, cong. with impaired intellectual devel., type B, 15 (DPM3)
  • Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 14 (GMPPB)
  • Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, cong. without mental retardation, type B, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 14 (GMPPB)
  • Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 15 (DPM3)
  • Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 8 (POMGNT2)
  • Myasthenia, congenital, 12, with tubular aggregates (GFPT1)
  • Myasthenic syndrome, congenital, 13, with tubular aggregates (DPAGT1)
  • Myasthenic syndrome, congenital, 14, with tubular aggregates (ALG2)
  • Myasthenic syndrome, congenital, 15, without tubular aggregates (ALG14)
  • Myopathy, epilepsy + progressive cerebral atrophy (ALG14)
  • Neutropenia, severe congenital 4, AR (G6PC3)
  • Nonaka myopathy (GNE)
  • Paroxysmal nocturnal hemoglobinuria 2 (PIGT)
  • Paroxysmal nocturnal hemoglobinuria, somatic (PIGA)
  • Peters-plus syndrome (B3GLCT)
  • Rafiq syndrome (MAN1B1)
  • Salt and pepper developmental regression syndrome (ST3GAL5)
  • Saul-Wilson syndrome (COG4)
  • Seizures, scoliosis + macrocephaly syndrome (EXT2)
  • Shaheen syndrome (COG6)
  • Sialuria (GNE)
  • Skeletal dysplasia, mild, with joint laxity + advanced bone age (CSGALNACT1)
  • Spastic paraplegia 26, AR (B4GALNT1)
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with/-out fractures (B3GALT6)
  • Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3)
  • Spondyloocular syndrome (XYLT2)
  • Temtamy preaxial brachydactyly syndrome (CHSY1)
  • Tumoral calcinosis, hyperphosphatemic, familial, 1 (GALNT3)
  • Wrinkly skin syndrome (ATP6V0A2)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR
  • AD und/oder Ass
  • AR
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E74.8

Bioinformatik und klinische Interpretation

Kein Text hinterlegt