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

ErkrankungLeukodystrophie, Frühformen; Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 118 Genen zur umfassenden Untersuchung von den meisten bekannten genetisch bedingten Frühformen der Leukodystrophie; Mutationen in 19 kuratierten Genen erfassen die häufigsten Mutationen.

ID
LP5543
Anzahl Gene
99 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
27,1 kb (Core-/Basis-Gene)
150,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ABCD12238XLR
ADAR2796AD und/oder AR
ARSA1530AR
ASPA942AR
EIF2B1918AR
EIF2B21056AR
EIF2B31359AR
EIF2B41569AR
EIF2B52166AR
GALC2058AR
GFAP1299AD
IFIH13078AD
PLP1834XLR
RNASEH2A900AR
RNASEH2B939AR
RNASEH2C495AR
SAMHD11881AD und/oder AR und/oder Ass
TREX1945AD und/oder AR und/oder Ass
AARS22958AR
ACOX11869AR
AIMP1939AR
ALDH3A21458AR
BCAP31741XLR
BCS1L1260AR
CIC4827AD
CLCN22697AD und/oder AR
COQ21266AD und/oder AR
COQ8A1944AR
COX101332AR und/oder Mi
COX151167AR
CSF1R2919AD
CYP27A11596AR
D2HGDH1566AR
DARS11506AR
DARS21938AR
DGUOK834AR
DPYD3078AR
EARS21572AR
EIF2AK21671AD
ERCC64482AD und/oder AR und/oder SMu und/oder Sus
ERCC81191AR und/oder Sus
ETFDH1854AR
FAM126A1566AR
FLVCR21581AR
FOLR1774AR
FUCA11401AR
GALNT21716AR
GBE12109AR
GFM12256AR
GJC21320AD und/oder AR
HEPACAM1251AD und/oder AR
HSD17B42211AR
IBA571071AR
ISCA2183AR
L2HGDH1392AR
LMNB11761AD
LYRM7315AR
MEF2C1422AD und/oder Mult
MLC11134AR
MTFMT1170AR
NDUFA2300AR
NDUFAF1984AR
NDUFAF3555AR
NDUFS12184AR
NDUFS4528AR
NDUFS7642AR
NDUFS8633AR
NDUFV11368AR
NKX6-2837AR
NUBPL672AR
PAFAH1B11233AD
POLG3720AD und/oder AR
POLG21458AD und/oder AR
POLR1C1041AR
POLR3A4173AR
POLR3B3402AR
PSAP1575AR
PYCR2741AR
RARS11983AR
RNASET2771AR
RRM2B1272AD und/oder AR
SCO1906AR und/oder Mi
SCO2801AD und/oder AR
SCP21644AR
SDHAF1348AR
SDHB843AD und/oder Sus
SLC16A21620XL
SLC17A51488AR
SLC25A122037AR
SLC25A4897AD und/oder AR
SOX101401AD
SUCLA21392AR
SUMF11125AR
SURF1903AR
TACO1894AR und/oder Mi
TMEM106B832AD
TUBB4A1335AD
TWNK2055AD und/oder AR
TYMP1449AR

Infos zur Erkrankung

Klinischer Kommentar

Primär neuronale Affektionen oder prominente systemische Manifestation, denen gegenüber die Marklagerveränderungen in den Hintergrund treten. Es werden hereditäre Vaskulopathien, erbliche Stoffwechselstörungen und weitere hereditäre Leukencephalopathien unterschieden.

Gruppe von Erkrankungen:

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

Cerebral autosomal recessive arteriopathy-subcortical infracts-leukoencephalopathy

Cree leukoencephalopathy

Cystic leukoencephalopathy without megalencephaly

Early-onset calcifying leukoencephalopathy-skeletal dysplasia

Genetic cerebral small vessel disease, Vascular leukoencephalopathy

Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia

Leukoencephalopathy with bilateral anterior temporal lobe cysts

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Leukoencephalopathy with calcifications and cysts

Leukoencephalopathy with mild cerebellar ataxia and white matter edema

Leukoencephalopathy-dystonia-motor neuropathy syndrome

Leukoencephalopathy-palmoplantar keratoderma syndrome

Leukoencephalopathy-spondylometaphyseal dysplasia syndrome

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

Megalencephalic leukoencephalopathy with subcortical cysts

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy

PYCR2-related microcephaly-progressive leukoencephalopathy

Pontine autosomal dominant microangiopathy with leukoencephalopathy

Progressive cavitating leukoencephalopathy

Progressive multifocal leukoencephalopathy

 

Synonyme
  • Alias: Leukencephalopathie
  • Alias: Leukencephalopathy
  • Alias: Leukodystrophie
  • Alias: Leukodystrophy
  • Alias: Leukoencephalopathy
  • Alias: Leukoenzephalopathie
  • Allelic: 5-fluorouracil toxicity (DPYD)
  • Allelic: Adrenomyeloneuropathy, adult (ABCD1)
  • Allelic: Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
  • Allelic: Bjornstad syndrome (BCS1L)
  • Allelic: Chromosome 5q14.3 deletion syndrome (MEF2C)
  • Allelic: Combined SAP deficiency (PSAP)
  • Allelic: Dermatofibrosarcoma protuberans (PDGFB)
  • Allelic: Dyschromatosis symmetrica hereditaria (ADAR)
  • Allelic: Gastrointestinal stromal tumor (SDHB)
  • Allelic: Gaucher disease, atypical (PSAP)
  • Allelic: Kosaki overgrowth syndrome (PDGFRB)
  • Allelic: Krabbe disease, atypical (PSAP)
  • Allelic: Lung cancer, susceptibility to (ERCC6)
  • Allelic: Lymphatic malformation 3 (GJC2)
  • Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
  • Allelic: Meningioma, SIS-related (PDGFB)
  • Allelic: Mitchell syndrome (ABCD1)
  • Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
  • Allelic: Myofibromatosis, infantile, 1 (PDGFRB)
  • Allelic: Myopia 6 (SCO2)
  • Allelic: Ovarioleukodystrophy (EIF2B2, EIF2B4, EIF2B5)
  • Allelic: Paraganglioma + gastric stromal sarcoma (SDHB)
  • Allelic: Paragangliomas 4 (SDHB)
  • Allelic: Perrault syndrome 1 (HSD17B4)
  • Allelic: Perrault syndrome 5 (TWNK)
  • Allelic: Pheochromocytoma (SDHB)
  • Allelic: Portal hypertension, noncirrhotic, 1 (DGUOK)
  • Allelic: Premature ovarian failure 11 (ERCC6)
  • Allelic: Retinal arteries, tortuosity of (COL4A1)
  • Allelic: Spastic paraplegia 2, XL (PLP1)
  • Allelic: Spastic paraplegia 44, AR (GJC2)
  • Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
  • Allelic: UV-sensitive syndrome 1 (ERCC6)
  • Allelic: UV-sensitive syndrome 2 (ERCC8)
  • Adrenoleukodystrophy (ABCD1)
  • Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
  • Aicardi-Goutieres syndrome 2 (RNASE2B)
  • Aicardi-Goutieres syndrome 3 (RNASE2C)
  • Aicardi-Goutieres syndrome 4 (RNASE2H)
  • Aicardi-Goutieres syndrome 5 (SMAHD1)
  • Aicardi-Goutieres syndrome 6 (ADAR)
  • Aicardi-Goutieres syndrome 7 (IFIH1)
  • Aicardi-Goutieres syndrome 8 (LSM11)
  • Alexander disease (GFAP)
  • Allan-Herndon-Dudley syndrome (SLC16A2)
  • Basal ganglia calcification, idiopathic, 1 (SLC20A2)
  • Basal ganglia calcification, idiopathic, 4 (PDGFRB)
  • Basal ganglia calcification, idiopathic, 5 (PDGFB)
  • Basal ganglia calcification, idiopathic, 6 (XPR1)
  • Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
  • Brain small vessel disease with/-out ocular anomalies (COL4A1)
  • Canavan disease (ASPA)
  • Cerebrooculofacioskeletal syndrome 1 (ERCC6)
  • Cerebrooculofacioskeletal syndrome 2 (ERCC2)
  • Cerebrooculofacioskeletal syndrome 3 (ERCC5)
  • Cerebrooculofacioskeletal syndrome 4 (ERCC1)
  • Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
  • Cerebrotendinous xanthomatosis (CYP27A1)
  • Charcot-Marie-Tooth disease, type 4K (SURF1)
  • Charcot-Marie-Tooth neuropathy, XLD, 1 (GJB1)
  • Chilblain lupus (TREX1)
  • Chilblain lupus 2 (SAMHD1)
  • Cockayne syndrome, type A (ERRC8)
  • Cockayne syndrome, type B (ERCC6)
  • Coenzyme Q10 deficiency, primary, 1 (COQ2)
  • Coenzyme Q10 deficiency, primary, 4 (COQ8A)
  • Combined SAP deficiency (PSAP)
  • Combined oxidative phosphorylation deficiency 1 (GFM1)
  • Combined oxidative phosphorylation deficiency 12 (EARS2)
  • Combined oxidative phosphorylation deficiency 15 (MTFMT)
  • Combined oxidative phosphorylation deficiency 8 (AARS2)
  • Congenital disorder of glycosylation, type IIt (GALNT2)
  • D-2-hydroxyglutaric aciduria (D2HGDH)
  • D-bifunctional protein deficiency (HSD17B4)
  • De Sanctis-Cacchione syndrome (ERCC6)
  • Deafness, dystonia + cerebral hypomyelination (BCAP31)
  • Developmental + epileptic encephalopathy 39 (SLC25A12)
  • Dihydropyrimidine dehydrogenase deficiency (DPYD)
  • Dystonia 4, torsion, AD (TUBB4A)
  • Epilepsy, idiopathic generalized, susceptibility to, 11 (CLCN2)
  • Epilepsy, juvenile absence, susceptibility to, 2 (CLCN2)
  • Epilepsy, juvenile myoclonic, susceptibility to, 8 (CLCN2)
  • Fanconi anemia, complementation group Q (ERCC4)
  • Fucosidosis (FUCA1)
  • GRACILE syndrome (BCS1L)
  • Gaucher disease, atypical (PSAP)
  • Glutaric acidemia IIC (ETFDH)
  • Glycogen storage disease IV (GBE1)
  • Hemorrhage, intracerebral, susceptibility to (COL4A1)
  • Hemorrhagic destruction of the brain, subependymal calcification + cataracts (JAM3)
  • Hyperaldosteronism, familial, type II (CLCN2)
  • Hypomyelination with brainstem and spinal cord involvement + leg spasticity (DARS1)
  • Krabbe disease (GALC)
  • Krabbe disease, atypical (PSAP)
  • L-2-hydroxyglutaric aciduria (L2HGDH)
  • L-2-hydroxyglutaric aciduria (LMNB1)
  • Leukodystrophy, hypomyelinating, 10 (PYCR2)
  • Leukodystrophy, hypomyelinating, 11 (POLR1C)
  • Leukodystrophy, hypomyelinating, 16 (TMEM106B)
  • Leukodystrophy, hypomyelinating, 2 (GJC2)
  • Leukodystrophy, hypomyelinating, 3 (AIMP1)
  • Leukodystrophy, hypomyelinating, 5 (FAM126A)
  • Leukodystrophy, hypomyelinating, 6 (TUBB4A)
  • Leukodystrophy, hypomyelinating, 7, with/-out oligodontia +/- hypogonadotropic hypogonadism (POLR3A)
  • Leukodystrophy, hypomyelinating, 8, with/-out oligodontia +/- hypogonadotropic hypogonadism (POLR3B)
  • Leukodystrophy, hypomyelinating, 9 (RARS1)
  • Leukoencephalopathy with ataxia (CLCN2)
  • Leukoencephalopathy with brain stem + spinal cord involvement + lactate elevation (DARS2)
  • Leukoencephalopathy with dystonia + motor neuropathy (SCP2)
  • Leukoencephalopathy with vanishing white matter (EIF2B1-EIF2B5)
  • Leukoencephalopathy, cystic, without megalencephaly (RNASET2)
  • Leukoencephalopathy, developmental delay + episodic neurologic regression syndrome (EIF2AK2)
  • Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
  • Leukoencephalopathy, progressive, with ovarian failure (AARS2)
  • Lissencephaly 1 (PAFAH1B1)
  • Lissencephaly 5 (LAMB1)
  • Megalencephalic leukoenceph. + subcortical cysts 2B, remitting, with/-out ment. retard. (HEPACAM)
  • Megalencephalic leukoencephalopathy + subcortical cysts (MLC1)
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with/-out MR (HEPACAM)
  • Mental retardation, autosomal dominant 45 (CIC)
  • Metachromatic leukodystrophy (ARSA)
  • Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
  • Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
  • Mitchell syndrome (ACOX1)
  • Mitochondrial AR ataxia syndrome; includes SANDO + SCAE (POLG)
  • Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP)
  • Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type; AD (SLC25A4)
  • Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type; AR (SLC25A4)
  • Mitochondrial DNA depletion syndrome 16, hepatic type (POLG2)
  • Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type (POLG2)
  • Mitochondrial DNA depletion syndrome 3, hepatocerebral type (DGUOK)
  • Mitochondrial DNA depletion syndrome 4A, Alpers type (POLG)
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type (POLG)
  • Mitochondrial DNA depletion syndrome 5, encephalomyopathic with/-out methylmalonic aciduria (SUCLA)
  • Mitochondrial DNA depletion syndrome 7, hepatocerebral type (TWNK)
  • Mitochondrial DNA depletion syndrome 8A, encephalomyopathic type with renal tubulopathy (RRM2B)
  • Mitochondrial DNA depletion syndrome 8B, MNGIE type (RRM2B)
  • Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4)
  • Mitochondrial complex I deficiency, nuclear type 11 (NDUFAF1)
  • Mitochondrial complex I deficiency, nuclear type 13 (NDUFA2)
  • Mitochondrial complex I deficiency, nuclear type 18 (NDUFAF3)
  • Mitochondrial complex I deficiency, nuclear type 2 (NDUFS8)
  • Mitochondrial complex I deficiency, nuclear type 21 (NUBPL)
  • Mitochondrial complex I deficiency, nuclear type 27 (MTFMT)
  • Mitochondrial complex I deficiency, nuclear type 3 (NDUFS7)
  • Mitochondrial complex I deficiency, nuclear type 4 (NDUFV1)
  • Mitochondrial complex I deficiency, nuclear type 5 (NDUFS1)
  • Mitochondrial complex I deficiency, nuclear type 6 (NDUFS2)
  • Mitochondrial complex II deficiency, nuclear type 2 (SDHAF1)
  • Mitochondrial complex II deficiency, nuclear type 4 (SDHB)
  • Mitochondrial complex III deficiency, nuclear type 1 (BCS1L)
  • Mitochondrial complex III deficiency, nuclear type 8 (LYRM7)
  • Mitochondrial complex IV deficiency, nuclear type 1 (SURF1)
  • Mitochondrial complex IV deficiency, nuclear type 2 (SCO2)
  • Mitochondrial complex IV deficiency, nuclear type 3 (COX10)
  • Mitochondrial complex IV deficiency, nuclear type 4 (SCO1)
  • Mitochondrial complex IV deficiency, nuclear type 6 (COX15)
  • Mitochondrial complex IV deficiency, nuclear type 8 (TACO1)
  • Multiple mitochondrial dysfunctions syndrome 3 (IBA57)
  • Multiple mitochondrial dysfunctions syndrome 4 (ISCA2)
  • Multiple sulfatase deficiency (SUMF)
  • Multiple system atrophy, susceptibility to (COQ2)
  • Neurodegeneration due to cerebral folate transport deficiency (FOLR1)
  • Neurodevelopmental disorder with hypotonia, stereotypic hand movements + impaired language (MEF2C)
  • PCWH [periph. demyel. neuropathy, central dysmyel., Waardenburg, Hirschsprung] syndrome (SOX10)
  • Parkinson disease 24, AD, susceptibility to (PSAP)
  • Pelizaeus-Merzbacher disease (PLP1 syn. PLP)
  • Peroxisomal acyl-CoA oxidase deficiency (ABCD1)
  • Peroxisomal acyl-CoA oxidase deficiency (ACOX1)
  • Pettigrew syndrome (AP1S2)
  • Polyglucosan body disease, adult form (GBE1)
  • Premature aging syndrome, Penttinen type (PDGFRB)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 2 (SLC25A4)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 4 (POLG2)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 5 (RRM2B)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 4 (DGUOK)
  • Progressive external ophthalmoplegia, AD (POLG)
  • Progressive external ophthalmoplegia, AR 1 (POLG)
  • Proliferative vasculopathy + hydranencephaly-hydrocephaly syndrome (FLVCR2)
  • Pseudo-TORCH syndrome 1 (OCLN)
  • Pseudo-TORCH syndrome 2 (USP18)
  • Salla disease (SLC17A5)
  • Sialic acid storage disorder, infantile (SLC17A5)
  • Singleton-Merten syndrome 1 (IFIH1)
  • Sjogren-Larsson syndrome (ALDH3A2)
  • Spastic ataxia 8, AR, with hypomyelinating leukodystrophy (NKX6-2)
  • Spastic paraplegia 44, AR (GJC2)
  • Spastic paraplegia 74, AR (IBA57)
  • Subcortical laminar heterotopia (PAFAH1B1)
  • Treacher Collins syndrome 3 (POLR1C)
  • Trichothiodystrophy 1, photosensitive (ERCC2)
  • Trichothiodystrophy 2, photosensitive (ERCC3)
  • Vasculopathy, retinal, with cerebral leukoencephalopathy + systemic manifestations (TREX1)
  • Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
  • Waardenburg syndrome, type 4C (SOX10)
  • Wiedemann-Rautenstrauch syndrome (POLR3A)
  • XFE progeroid syndrome (ERCC4)
  • Xeroderma pigmentosum, group B (ERCC3)
  • Xeroderma pigmentosum, group D (ERCC2)
  • Xeroderma pigmentosum, group F (ERCC4)
  • Xeroderma pigmentosum, group G (ERCC5)
  • Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)
  • Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Ass
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder Mult
  • AD und/oder Sus
  • AR
  • AR und/oder Mi
  • AR und/oder Sus
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
A81.2

Bioinformatik und klinische Interpretation

Kein Text hinterlegt