ErkrankungWeiße Hirnsubstanz-Erkrankungen, erblich; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Weiße Hirnsubstanz Erkrankungen, erblich, ohne spezifische Symptomatik/Ursache mit 115 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
WP5857
Anzahl Gene
171
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
134,9 kb (Core-/Basis-Gene)
277,7 kb (Erweitertes Panel)
277,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
AARS2 | 2958 | AR | |
ABCD1 | 2238 | XLR | |
ACP5 | 978 | AR | |
ADAR | 2796 | AD und/oder AR | |
ALDH3A2 | 1458 | AR | |
ARSA | 1530 | AR | |
AUH | 1020 | AR | |
CBS | 1656 | AR | |
CLCN2 | 2697 | AD und/oder AR | |
CLN3 | 1317 | AR | |
CLN5 | 1077 | AR | |
CLN6 | 936 | AR | |
CLN8 | 861 | AR | |
COA8 | 797 | AR | |
COL4A1 | 5010 | AD und/oder Mult | |
COL4A2 | 5139 | AD und/oder Mult | |
CSF1R | 2919 | AD | |
CTSD | 1239 | AR | |
CTSF | 1455 | AR | |
CYP27A1 | 1596 | AR | |
DARS2 | 1938 | AR | |
DDX58 | 2778 | AD | |
DNAJC5 | 597 | AD | |
EIF2B1 | 918 | AR | |
EIF2B2 | 1056 | AR | |
EIF2B3 | 1359 | AR | |
EIF2B4 | 1569 | AR | |
EIF2B5 | 2166 | AR | |
FA2H | 1119 | AR | |
FUCA1 | 1401 | AR | |
GALC | 2058 | AR | |
GAN | 1794 | AR | |
GBA | 1611 | AD und/oder AR und/oder Sus | |
GBE1 | 2109 | AR | |
GCDH | 1317 | AR | |
GFAP | 1299 | AD | |
GJA1 | 1149 | AD und/oder AR | |
GLA | 1290 | XL und/oder Mult | |
GLB1 | 2034 | AR | |
GRN | 1782 | AD und/oder AR | |
HEPACAM | 1251 | AD und/oder AR | |
HEXA | 1590 | AR | |
HEXB | 1671 | AR | |
HMGCL | 978 | AR | |
HTRA1 | 1443 | AD und/oder AR und/oder Mult | |
IFIH1 | 3078 | AD | |
ISG15 | 498 | AR | |
KARS1 | 1940 | AR | |
KCTD7 | 870 | AR | |
L2HGA | 0 |
| - |
L2HGDH | 1392 | AR | |
LMNB1 | 1761 | AD | |
MAN2B1 | 3036 | AR | |
MANBA | 2640 | AR | |
MARS2 | 1782 | AR | |
MCOLN1 | 1743 | AR | |
MFSD8 | 1557 | AR | |
MLC1 | 1134 | AR | |
MTHFR | 1971 | AD und/oder AR und/oder Ass | |
NOTCH2NLC | 882 | AD | |
NOTCH3 | 6966 | AD und/oder Mult | |
NPC1 | 3837 | AR | |
NPC2 | 456 | AR | |
PEX7 | 972 | AR | |
PHYH | 1017 | AR | |
POLR1C | 1041 | AR | |
POLR3A | 4173 | AR | |
POLR3B | 3402 | AR | |
PPT1 | 921 | AR | |
PSMB8 | 831 | AR und/oder Dig | |
RNASEH2A | 900 | AR | |
RNASEH2B | 939 | AR | |
RNASEH2C | 495 | AR | |
SAMHD1 | 1881 | AD und/oder AR und/oder Ass | |
SLC17A5 | 1488 | AR | |
TREM2 | 660 | AR | |
TREX1 | 945 | AD und/oder AR und/oder Ass | |
TUBB4A | 1335 | AD | |
TYROBP | 309 | AR | |
ACBD5 | 1473 | AR | |
ACOX1 | 1869 | AR | |
AIMP1 | 939 | AR | |
ASPA | 942 | AR | |
BCAP31 | 741 | XLR | |
BCS1L | 1260 | AR | |
BOLA3 | 324 | AR | |
CIC | 4827 | AD | |
CNTNAP1 | 4155 | AR | |
COLGALT1 | 1893 | AR | |
COQ2 | 1266 | AD und/oder AR | |
COQ8A | 1944 | AR | |
COX10 | 1332 | AR und/oder Mi | |
COX15 | 1167 | AR | |
D2HGDH | 1566 | AR | |
DARS1 | 1506 | AR | |
DGUOK | 834 | AR | |
DPYD | 3078 | AR | |
EARS2 | 1572 | AR | |
EIF2AK2 | 1671 | AD | |
ERCC6 | 4482 | AD und/oder AR und/oder SMu und/oder Sus | |
ERCC8 | 1191 | AR und/oder Sus | |
ETFDH | 1854 | AR | |
FAM126A | 1566 | AR | |
FLVCR2 | 1581 | AR | |
FOLR1 | 774 | AR | |
GALNT2 | 1716 | AR | |
GFM1 | 2256 | AR | |
GJB1 | 852 | XLD | |
GJC2 | 1320 | AD und/oder AR | |
HSD17B4 | 2211 | AR | |
HSPD1 | 1722 | AD und/oder AR | |
IBA57 | 1071 | AR | |
ISCA2 | 183 | AR | |
LAMB1 | 5361 | AR | |
LIG3 | 2850 | AR | |
LYRM7 | 315 | AR | |
MEF2C | 1422 | AD und/oder Mult | |
MPLKIP | 540 | AR | |
MTFMT | 1170 | AR | |
NAXE | 947 |
| AR |
NDUFA2 | 300 | AR | |
NDUFAF1 | 984 | AR | |
NDUFAF3 | 555 | AR | |
NDUFS1 | 2184 | AR | |
NDUFS2 | 1374 | AR | |
NDUFS4 | 528 | AR | |
NDUFS7 | 642 | AR | |
NDUFS8 | 633 | AR | |
NDUFV1 | 1368 | AR | |
NKX6-2 | 837 | AR | |
NUBPL | 672 | AR | |
PAFAH1B1 | 1233 | AD | |
PEX1 | 3852 | AR | |
PEX10 | 1041 | AR | |
PEX12 | 1080 | AR | |
PEX13 | 1212 | AR | |
PEX16 | 1011 | AR | |
PEX2 | 918 | AR | |
PEX26 | 918 | AR | |
PEX3 | 1122 | AR | |
PEX5 | 1920 | AR | |
PEX6 | 2943 | AD und/oder AR | |
PI4KA | 6309 | AR | |
PLP1 | 834 | XLR | |
POLG | 3720 | AD und/oder AR | |
POLG2 | 1458 | AD und/oder AR | |
PSAP | 1575 | AR | |
PYCR2 | 741 | AR | |
RAB11B | 691 | AD | |
RARS1 | 1983 | AR | |
RNASET2 | 771 | AR | |
RRM2B | 1272 | AD und/oder AR | |
SCO1 | 906 | AR und/oder Mi | |
SCO2 | 801 | AD und/oder AR | |
SCP2 | 1644 | AR | |
SDHA | 1995 | AD und/oder AR und/oder Sus | |
SDHAF1 | 348 | AR | |
SDHB | 843 | AD und/oder Sus | |
SLC16A2 | 1620 | XL | |
SLC25A12 | 2037 | AR | |
SLC25A4 | 897 | AD und/oder AR | |
SOX10 | 1401 | AD | |
SPART | 2001 | AR | |
SUCLA2 | 1392 | AR | |
SUMF1 | 1125 | AR | |
SURF1 | 903 | AR | |
TACO1 | 894 | AR und/oder Mi | |
TMEM106B | 832 | AD | |
TWNK | 2055 | AD und/oder AR | |
TYMP | 1449 | AR | |
VPS11 | 3262 | AR |
Infos zur Erkrankung
Synonyme
- DD: Einschlußkriterien: MRI; Stoffwechseluntersuchungen abgeschlossen
- DD: Ausschlußkriterien: genetische/Umwelt-Ursache (Infektion, Hypoxie...) bekannt
- DD: andere Ursache phänotypisch ausgeschlossen (Cockayne Syndrom...)
- Alias: Leukodystrophie, erblich
- Alias: Leukodystrophy, inherited
- Allelic: 5-fluorouracil toxicity (DPYD)
- Allelic: Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
- Allelic: Atrioventricular septal defect 3 (GJA1)
- Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
- Allelic: Charcot-Marie-Tooth disease, RI, B (KARS1)
- Allelic: Charcot-Marie-Tooth disease, type 4K (SURF1)
- Allelic: Chilblain lupus (TREX1)
- Allelic: Chilblain lupus 2 (SAMHD1)
- Allelic: Combined oxidative phosphorylation deficiency 25 (MARS2)
- Allelic: Deafness, AR 89 (KARS1)
- Allelic: Epilepsy, idiopathic generalized, susceptibility to, 11 (CLCN2)
- Allelic: Epilepsy, juvenile absence, susceptibility to, 2 (CLCN2)
- Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 8 (CLCN2)
- Allelic: Erythrokeratodermia variabilis et progressiva (GJA1)
- Allelic: Fabry disease, cardiac variant (GLA)
- Allelic: Gastrointestinal defects + immunodeficiency syndrome 2 (PI4KA)
- Allelic: Gastrointestinal stromal tumor (SDHB)
- Allelic: Gaucher disease, perinatal lethal (GBA)
- Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1)
- Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A2)
- Allelic: Hypoplastic left heart syndrome 1 (GJA1)
- Allelic: Lewy body dementia, susceptibility to (GBA)
- Allelic: Lung cancer, susceptibility to (ERCC6)
- Allelic: Lymphatic malformation 3 (GJC2)
- Allelic: Macular degeneration, age-related, 7 (HTRA1)
- Allelic: Macular degeneration, age-related, neovascular type (HTRA1)
- Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
- Allelic: Macular dystrophy with central cone involvement (MFSD8)
- Allelic: Mitochondrial DNA depletion syndrome 16, hepatic type (POLG2)
- Allelic: Myofibromatosis, infantile 2 (NOTCH3)
- Allelic: Myopia 6 (SCO2)
- Allelic: Oculodentodigital dysplasia (GJA1)
- Allelic: Oculodentodigital dysplasia, AR (GJA1)
- Allelic: Palmoplantar keratoderma with congenital alopecia (GJA1)
- Allelic: Paraganglioma + gastric stromal sarcoma (SDHB)
- Allelic: Paragangliomas 4 (SDHB)
- Allelic: Parkinson disease 24, AD, susceptibility to (PSAP)
- Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
- 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: Progressive external ophthalmoplegia, AD (POLG)
- Allelic: Progressive external ophthalmoplegia, AR 1 (POLG)
- Allelic: Retinal arteries, tortuosity of (COL4A1)
- Allelic: Syndactyly, type III (GJA1)
- Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
- Allelic: Tremor, hereditary essential, 6 (NOTCH2NLC)
- Allelic: UV-sensitive syndrome 1 (ERCC6)
- 3-methylglutaconic aciduria, type I (AUH)
- Adrenoleukodystrophy (ABCD1)
- Adrenomyeloneuropathy, adult (ABCD1)
- Aicardi-Goutieres syndrome 1, AD, AR (TREX1)
- Aicardi-Goutieres syndrome 2 (RNASEH2B)
- Aicardi-Goutieres syndrome 3 (RNASEH2C)
- Aicardi-Goutieres syndrome 4 (RNASEH2A)
- Aicardi-Goutieres syndrome 5 (SAMHD1)
- Aicardi-Goutieres syndrome 6 (ADAR)
- Aicardi-Goutieres syndrome 7 (IFIH1)
- Alexander disease (GFAP)
- Allan-Herndon-Dudley syndrome (SLC16A2)
- Aphasia, primary progressive (GRN)
- Bjornstad syndrome (BCS1L)
- Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
- Brain small vessel disease 2 (COL4A2)
- Brain small vessel disease 3 (COLGALT1)
- Brain small vessel disease with/-out ocular anomalies (COL4A1)
- CARASIL syndrome (HTRA1)
- Canavan disease (ASPA)
- Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
- Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
- Cerebrooculofacioskeletal syndrome 1 (ERCC6)
- Cerebrotendinous xanthomatosis (CYP27A1)
- Ceroid lipofuscinosis, neuronal, 1 (PPT1)
- Ceroid lipofuscinosis, neuronal, 10 (CTSD)
- Ceroid lipofuscinosis, neuronal, 11 (GRN)
- Ceroid lipofuscinosis, neuronal, 3 (CLN3)
- Ceroid lipofuscinosis, neuronal, 4, Kufs type, AD (DNAJC5)
- Ceroid lipofuscinosis, neuronal, 5 (CLN5)
- Ceroid lipofuscinosis, neuronal, 6A (CLN6)
- Ceroid lipofuscinosis, neuronal, 6B, Kufs type (CLN6)
- Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
- Ceroid lipofuscinosis, neuronal, 8 (CLN8)
- Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
- Charcot-Marie-Tooth neuropathy, XLD, 1 (GJB1)
- Chromosome 5q14.3 deletion syndrome (MEF2C)
- Cockayne syndrome, type A (ERCC8)
- 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)
- Craniometaphyseal dysplasia, AR (GJA1)
- D-2-hydroxyglutaric aciduria (D2HGDH)
- D-bifunctional protein deficiency (HSD17B4)
- De Sanctis-Cacchione syndrome (ERCC6)
- Deafness, congenital + adult-onset progressive leukoencephalopathy (KARS1)
- Deafness, dystonia + cerebral hypomyelination (BCAP31)
- Developmental + epileptic encephalopathy 39 (SLC25A12)
- Dihydropyrimidine dehydrogenase deficiency (DPYD)
- Dyschromatosis symmetrica hereditaria (ADAR)
- Dystonia 32 (VPS11)
- Dystonia 4, torsion, AD (TUBB4A)
- Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy (NAXE)
- Epilepsy, progressive myoclonic 3, with/-out intracellular inclusions (KCTD7)
- Fabry disease (GLA)
- Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
- Fucosidosis (FUCA1)
- GM1-gangliosidosis, type I, II, III (GLB1)
- GM2-gangliosidosis, several forms (HEXA)
- GRACILE syndrome (BCS1L)
- Gaucher disease, atypical (PSAP)
- Gaucher disease, type I, II, III, IIIC (GBA)
- Giant axonal neuropathy-1 (GAN)
- Glutaric acidemia IIC (ETFDH)
- Glutaricaciduria, type I (GCDH)
- Glycogen storage disease IV (GBE1)
- HMG-CoA lyase deficiency (HMGCL)
- Hex A pseudodeficiency (HEXA)
- Homocystinuria due to MTHFR deficiency (MTHFR)
- Homocystinuria, B6-responsive + nonresponsive types (CBS)
- Hyperaldosteronism, familial, type II (CLCN2)
- Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
- Hypomyelination with brainstem + spinal cord involvement + leg spasticity (DARS1)
- Immunodeficiency 38 (ISG15)
- Intellectual developmental disorder, AD 21 (CTCF)
- Krabbe disease (GALC)
- Krabbe disease, atypical (PSAP)
- L-2-hydroxyglutaric aciduria (L2HGA)
- L-2-hydroxyglutaric aciduria (L2HGDH)
- Lateral meningocele syndrome (NOTCH3)
- Lethal congenital contracture syndrome 7 (CNTNAP1)
- Leukodystrophy, adult-onset, AD (LMNB1)
- Leukodystrophy, hypomyelinating, 10 (PYCR2)
- Leukodystrophy, hypomyelinating, 11 (POLR1C)
- Leukodystrophy, hypomyelinating, 12 (VPS11)
- Leukodystrophy, hypomyelinating, 16 (TMEM106B)
- Leukodystrophy, hypomyelinating, 2 (GJC2)
- Leukodystrophy, hypomyelinating, 3 (AIMP1)
- Leukodystrophy, hypomyelinating, 4 (HSPD1)
- Leukodystrophy, hypomyelinating, 5 (FAM126A)
- Leukodystrophy, hypomyelinating, 6 (TUBB4A)
- Leukodystrophy, hypomyelinating, 7, +/- oligodontia +/- hypogonadotropic hypogonadism (POLR3A)
- Leukodystrophy, hypomyelinating, 8, +/- 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)
- Leukoencephalopathy with vanishing white matter (EIF2B2)
- Leukoencephalopathy with vanishing white matter (EIF2B3)
- Leukoencephalopathy with vanishing white matter (EIF2B4)
- Leukoencephalopathy with vanishing white matter (EIF2B5)
- Leukoencephalopathy, cerebellar atrophy, mtDNA depletion [panelapp] (LIG3)
- Leukoencephalopathy, cystic, without megalencephaly (RNASET2)
- Leukoencephalopathy, developmental delay, episodic neurologic regression syndrome (EIF2AK2)
- Leukoencephalopathy, diffuse hereditary, with spheroids 1 (CSF1R)
- Leukoencephalopathy, progressive, infantile-onset, with/-out deafness (KARS1)
- Leukoencephalopathy, progressive, with ovarian failure (AARS2)
- Lissencephaly 1 (PAFAH1B1)
- Lissencephaly 5 (LAMB1)
- Mannosidosis, alpha-, types I + II (MAN2B1)
- Mannosidosis, beta (MANBA)
- Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)
- Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
- Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, +/- MR (HEPACAM)
- Mental retardation, Ad 45 (CIC)
- Metachromatic leukodystrophy (ARSA)
- Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
- Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
- Microcephaly 26, primary, AD (LMNB1)
- Mitchell syndrome (ACOX1)
- 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 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 +/- methylmalonic aciduria (SUCLA2)
- 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 (NUPBL)
- 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 1 (SDHA)
- 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 17 (COA8)
- 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)
- Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG)
- Mucolipidosis IV (MCOLN1)
- Mucopolysaccharidosis type IVB, Morquio (GLB1)
- Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (BOLA3)
- Multiple mitochondrial dysfunctions syndrome 3 (IBA57)
- Multiple mitochondrial dysfunctions syndrome 4 (ISCA2)
- Multiple sulfatase deficiency (SUMF1)
- Multiple system atrophy, susceptibility to (COQ2)
- Neurodegeneration due to cerebral folate transport deficiency (FOLR1)
- Neurodegeneration with ataxia + late-onset optic atrophy (SDHA)
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, impaired language (MEF2C)
- Neurodevelopmental disorder, ataxic gait, absent speech, decreased cortical white matter (RAB11B)
- Neuronal intranuclear inclusion disease (NOTCH2NLC)
- Niemann-Pick disease, type C1 + D (NPC1)
- Niemann-Pick disease, type C2 (NPC2)
- Oculopharyngodistal myopathy 3 (NOTCH2NLC)
- Ovarioleukodystrophy (EI2B2, EIF2B5)
- PCWH syndrome (SOX10)
- Paragangliomas 5 (SDHA)
- Pelizaeus-Merzbacher disease (PLP1)
- Peroxisomal acyl-CoA oxidase deficiency (ACOX1)
- Peroxisome biogenesis disorders (PEX1, -10, -12, -13, -16, -2, -26, -3, -5, -6)
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (TYROBP)
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (TREM2)
- Polyglucosan body disease, adult form (GBE1)
- Polymicrogyria, perisylvian, with cerebellar hypoplasia + arthrogryposis (PI4KA)
- 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)
- Proliferative vasculopathy + hydranencephaly-hydrocephaly syndrome (FLVCR2)
- Proteasome-associated autoinflammatory syndrome 1 + digenic forms (PSMB8)
- Refsum disease (PHYH)
- Retinal dystrophy with leukodystrophy (ABCD5)
- Salla disease (SLC17A5)
- Sandhoff disease, infantile, juvenile + adult forms (HEXB)
- Sialic acid storage disorder, infantile (SLC17A5)
- Singleton-Merten syndrome 1 (IFIH1)
- Singleton-Merten syndrome 2 (DDX58)
- Sjogren-Larsson syndrome (ALDH3A2)
- Spastic ataxia 3, AR (MARS2)
- Spastic ataxia 8, AR, with hypomyelinating leukodystrophy (NKX6-2)
- Spastic paraplegia 13, AD (HSPD1)
- Spastic paraplegia 2, XL (PLP1)
- Spastic paraplegia 35, AR (FA2H)
- Spastic paraplegia 44, AR (GJC2)
- Spastic paraplegia 74, AR (IBA57)
- Spastic paraplegia 84, AR (PI4KA)
- Spondyloenchondrodysplasia with immune dysregulation (ACP5)
- Subcortical laminar heterotopia (PAFAH1B1)
- Tay-Sachs disease (HEXA)
- Thrombosis, hyperhomocysteinemic (CBS)
- Treacher Collins syndrome 3 (POLR1C)
- Trichothiodystrophy 4, nonphotosensitive (MPLKIP)
- Troyer syndrome (SPART)
- UV-sensitive syndrome 2 (ERCC8)
- 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)
Erbgänge, Vererbungsmuster etc.
- -
- AD
- AD und/oder AR
- AD und/oder AR und/oder Ass
- AD und/oder AR und/oder Mult
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder AR und/oder Sus
- AD und/oder Mult
- AD und/oder Sus
- AR
- AR und/oder Dig
- AR und/oder Mi
- AR und/oder Sus
- XL
- XL und/oder Mult
- XLD
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
A81.2
Bioinformatik und klinische Interpretation
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