ErkrankungSpinozerebelläre Ataxie, autosomal rezessiv; Differentialdiagnose

NGS + [X]

[[Sanger]]

Große Erkrankungsgruppe - keine ORPHA#

• Alias: AR Ataxia with cerebellar anomalies
• Alias: Cerebellar ataxia, AR
• Alias: SCA, autosomal recessive
• Allelic: Amyotrophic lateral sclerosis 4, juvenile (SETX)
• Allelic: Breast cancer, susceptibility to (ATM)
• Allelic: Laurence-Moon syndrome (PNPLA6)
• Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
• Allelic: Lymphoma, mantle cell, somatic (ATM)
• Allelic: Oliver-McFarlane syndrome (PNPLA6)
• Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
• Allelic: Spastic paraplegia 39, AR (PNPLA6)
• Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
• 3-methylglutaconic aciduria, type III (OPA3)
• 3-methylglutaconic aciduria, type V (DNAJC19)
• Abetalipoproteinemia (MTTP)
• Achalasia-addisonianism-alacrimia syndrome (AAAS)
• Allelic: Developmental + epileptic encephalopathy 44 (UBA5)
• Allelic: Hemosiderosis, systemic, due to aceruloplasminemia (CP)
• Allelic: Hypoceruloplasminemia, hereditary (CP)
• Allelic: Optic atrophy 12 (AFG3L2)
• Allelic: Spinocerebellar ataxia 15 (ITPR1)
• Allelic: Spinocerebellar ataxia 28 (AFG3L2)
• Allelic: Spinocerebellar ataxia 29, congenital nonprogressive (ITPR1)
• Ataxia with isolated vitamin E deficiency (TTPA)
• Ataxia, cerebellar, Cayman type (ADCAY)
• Ataxia, early-onset, with oculomotor apraxia + hypoalbuminemia (APTX)
• Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
• Ataxia-oculomotor apraxia 4 (PNKP)
• Ataxia-telangiectasia (ATM)
• Boucher-Neuhauser syndrome (PNPLA6)
• Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
• Cerebellar ataxia (CP)
• Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
• Cerebellar ataxia + mental retardation with/-out quadrupedal locomotion 3 (CA8)
• Cerebellar ataxia, mental retardation + dysequilibrium syndrome 2 (WDR81)
• Cerebellar ataxia, mental retardation + dysequilibrium syndrome 4 (ATP8A2)
• Cerebellar ataxia, neuropathy + vestibular areflexia syndrome (RFC1)
• Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
• Cerebrotendinous xanthomatosis (CYP27A1)
• Ceroid lipofuscinosis, neuronal, 5 (CLN5)
• Ceroid lipofuscinosis, neuronal, 6 (CLN6)
• Chylomicron retention disease (SAR1B)
• Coenzyme Q10 deficiency, primary, 4 (COQ8A)
• Combined oxidative phosphorylation deficiency 29 (TXN2)
• Combined oxidative phosphorylation deficiency 3 (TSFM)
• Congenital disorder of glycosylation, type Iq (SRD5A3)
• Epilepsy, progressive myoclonic 2A [Lafora] (EPM2A)
• Epilepsy, progressive myoclonic 2B [Lafora] (NHLRC1)
• Epilepsy, progressive myoclonic 6 (GOSR2)
• GLUT1 deficiency syndrome 1, infantile onset, severe; + 2Childhood onset (SLC2A1)
• GM2-gangliosidosis, several forms (HEXA)
• Galloway-Mowat syndrome 1 (WDR73)
• Gaze palsy, familial horizontal, with progressive scoliosis, 1 (ROBO3)
• Gillespie syndrome (ITPR1)
• Infantile cerebellar-retinal degeneration (ACO2)
• Kahrizi syndrome (SRD5A3)
• Leukodystrophy, hypomyelinating, 7, with/-out oligodontia +/- hypogonadotropic hypogonadism (POLR3A)
• Leukodystrophy, hypomyelinating, 8, with/-out oligodontia +/- hypogonadotropic hypogonadism (POLR3B)
• Leukoencephalopathy with ataxia (CLCN2)
• Leukoencephalopathy with brain stem + spinal cord involvement + lactate elevation DARS2)
• Leukoencephalopathy with vanishing white matter (EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5)
• Lichtenstein-Knorr syndrome (SLC9A1)
• Lissencephaly 2 [Norman-Roberts type] (RELN)
• Marinesco-Sjogren syndrome (SIL1)
• Metachromatic leukodystrophy (ARSA)
• Methylmalonic aciduria and homocystinuria, cblC type (MMACHC)
• Mitochondrial Ar ataxia syndrome [includes SANDO + SCAE] (POLG)
• Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
• Mitochondrial complex III deficiency, nuclear type 2 (TTC19)
• Mitochondrial complex IV deficiency (COX20)
• Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 1 (POMT1)
• 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 brain + eye anomalies), type A, 6 (LARGE1)
• Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 7 (CRPPA)
• Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies, type A, 11 (B3GALNT2)
• Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies, type A, 8 (POMGNT2)
• NOR polyagglutination syndrome (A4GALT)
• Neurodegeneration due to cerebral folate transport deficiency (FOLR1)
• Neurodegeneration with ataxia, dystonia + gaze palsy, childhood-onset (SQSTM1)
• Neurodegeneration with brain iron accumulation 2B (PLA2G6)
• Neuropathy, hereditary motor and sensory, type VIB (SLC25A46)
• Niemann-Pick disease, type C1 (NPC1)
• Niemann-pick disease, type C2 (NPC2)
• Pancreatic and cerebellar agenesis (PTF1A)
• Peroxisome biogenesis disorder 8A (Zellweger) + 8B (PEX16)
• Peroxisome biogenesis disorder 9B (PEX7)
• Polymicrogyria, bilateral frontoparietal (ADGRG1)
• Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (ABHD12)
• Pontocerebellar hypoplasia type 1A (VRK1)
• Pontocerebellar hypoplasia type 2A, 4, 5 (TSEN54)
• Pontocerebellar hypoplasia type 2B (TSEN2)
• Pontocerebellar hypoplasia type 2C (TSEN34)
• Pontocerebellar hypoplasia, type 1B (EXOSC3)
• Pontocerebellar hypoplasia, type 6 (RARS2)
• Pontocerebellar hypoplasia, type 8 (CHMP1A)
• Pontocerebellar hypoplasia, type 9 (AMPD2)
• Poretti-Boltshauser syndrome (LAMA1)
• Refsum disease (PHYH)
• SESAME syndrome (KCNJ10)
• Sandhoff disease, infantile, juvenile + adult forms (HEXB)
• Spastic ataxia 2, AR (KIF1C)
• Spastic ataxia 3, AR (MARS2)
• Spastic ataxia 5, AR (AFG3L2)
• Spastic ataxia, Charlevoix-Saguenay type (SACS)
• Spastic paraplegia 44, AR (GJC2)
• Spastic paraplegia 46, Ar (GBA2)
• Spastic paraplegia 54, AR (DDHD2)
• Spastic paraplegia 56, AR (CYP2U1)
• Spastic paraplegia 7, AR (SPG7)
• Spastic paraplegia 76, AR (CAPB1)
• Spinocerebellar ataxia [panelapp] (MTCL1)
• Spinocerebellar ataxia, AR 10 (ANO10)
• Spinocerebellar ataxia, AR 11 (SYT14)
• Spinocerebellar ataxia, AR 12 (WWOX)
• Spinocerebellar ataxia, AR 13 (GRM1)
• Spinocerebellar ataxia, AR 14 (SPTBN2)
• Spinocerebellar ataxia, AR 15 (RUBCN)
• Spinocerebellar ataxia, AR 16 (STUB1)
• Spinocerebellar ataxia, AR 17 (CWF19L1)
• Spinocerebellar ataxia, AR 18 (GRID2)
• Spinocerebellar ataxia, AR 2 (PMPCA)
• Spinocerebellar ataxia, AR 20 (SNX14)
• Spinocerebellar ataxia, AR 21 (SCYL1)
• Spinocerebellar ataxia, AR 22 (VWA3B)
• Spinocerebellar ataxia, AR 23 (TDP2)
• Spinocerebellar ataxia, AR 24 (UBA5)
• Spinocerebellar ataxia, AR 25 (ATG5)
• Spinocerebellar ataxia, AR 26 (XRCC1)
• Spinocerebellar ataxia, AR 27 (GDAP2)
• Spinocerebellar ataxia, AR 28 (THG1L)
• Spinocerebellar ataxia, AR 29 (VPS41)
• Spinocerebellar ataxia, AR 30 (PITRM1)
• Spinocerebellar ataxia, AR 4 (VPS13D)
• Spinocerebellar ataxia, AR 7 (TPP1)
• Spinocerebellar ataxia, AR 8 (SYNE1)
• Spinocerebellar ataxia, AR, with axonal neuropathy 1 (TDP1)
• Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
• Spinocerebellar ataxia, AR, with axonal neuropathy 3 (COA7)
• Tay-Sachs disease (HEXA)
• Wolfram syndrome 1 (WFS1)