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Klinische FragestellungKongenitale Störungen der Glykosylierung, CDG; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Kongenitale Störungen der Glykosylierung 15 "core candidate"-Genen bzw. zusammen genommen 106 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
KP5598
Anzahl Gene
89 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
20,7 kb (Core-/Core-canditate-Gene)
143,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ALG11395NM_019109.5AR
ALG31173NM_005787.6AR
ALG61524NM_013339.4AR
COG52472NM_001161520.2AR
COG61848NM_001145079.2AR
DPAGT11227NM_001382.4AR
DPM1783NM_003859.3AR
MPI1272NM_002435.3AR
NGLY11911NM_001145293.2AR
PGM31713NM_001199917.2AR
PMM2741NM_000303.3AR
RFT11626NM_052859.4AR
SRD5A3957NM_024592.5AR
TMEM165975NM_018475.5AR
TUSC31047NM_006765.4AR
ALG111479NM_001004127.3AR
ALG121467NM_024105.4AR
ALG13417NM_001099922.3XL
ALG21251NM_033087.4AR
ALG81404NM_024079.5AR
ALG91858NM_024740.2AR
ATP6AP11423NM_001183.6XLR
ATP6V0A22571NM_012463.4AR
B3GALNT21503NM_152490.5AR
B3GALT6990NM_080605.4AR
B3GAT31008NM_012200.4AR
B3GLCT1497NM_194318.4AR
B4GALNT11437NM_001276468.2AR
B4GALT11197NM_001497.4AR
B4GALT7984NM_007255.3AR
CAD6774NM_004341.5AR
CCDC115645NM_032357.4AR
CHST141131NM_130468.4AR
CHST31440NM_004273.5AR
CHST61188NM_021615.5AR
CHSY12409NM_014918.5AR
COG12943NM_018714.3AR
COG22214NM_001145036.2AR
COG42295NM_001195139.2AR
COG72313NM_153603.4AR
COG81839NM_032382.5AR
CRPPA1356NM_001101426.4AR
DDOST1371NM_005216.5AR
DHDDS900NM_001243564.2AR
DOLK1617NM_014908.4AR
DPM2255NM_003863.4AR
DPM3369NM_018973.4AR
EXT12241NM_000127.3AD
EXT22157NM_207122.2AD, AR
FKRP1488NM_024301.5AR
FKTN1386NM_001079802.2AR
FUT81239NM_004480.4AR
GALNT31902NM_004482.4AR
GFPT12046NM_001244710.2AR
GMPPA1263NM_205847.3AR
GMPPB1164NM_013334.4AR
GNE2262NM_001128227.3AR
LARGE12271NM_004737.7AR
MAGT11104NM_032121.5XLR
MAN1B12100NM_016219.5AR
MGAT21344NM_002408.4AR
MOGS2196NM_001146158.2AR
MPDU1744NM_004870.4AR
PGAP2765NM_001256240.2AR
PGAP3963NM_033419.5AR
PGM11743NM_002633.3AR
PIGA1455NM_002641.4XLR
PIGL759NM_004278.4AR
PIGN2796NM_176787.5AR
PIGO3270NM_032634.4AR
PIGT1737NM_015937.6AR
PIGV1482NM_017837.4AR
POMGNT11983NM_017739.4AR
POMGNT21743NM_032806.6AR
POMT12244NM_007171.4AR
POMT22253NM_013382.7AR
RXYLT11355NM_014254.3AR
SEC23B2304NM_006363.6AD, AR
SLC35A1837NM_001168398.2AR
SLC35A21182NM_001042498.3XL
SLC35C11056NM_001145265.2AR
SLC35a21068NM_015139.3AR
SLC39A81645NM_022154.5AR
SSR4555NM_001204526.1XLR
ST3GAL51188NM_003896.4AR
STT3A2118NM_001278503.2AR
STT3B2481NM_178862.3AR
XYLT12880NM_022166.4AR
XYLT22598NM_022167.4AR

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
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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