IllnessC9orf72-FTD + C9orf72-ALS; expanded differential diagnosis

NGS + [X]

• Alias: C9orf72-related Huntington disease phenocopy
• Alias: C9orf72-related Huntington disease-like syndrome
• Alias: Huntington disease phenocopy due to C9ORF72 expansions
• Alias: Huntington disease-like syndrome due to C9ORF72 expansions
• Allelic: Acne inversa, familial, 3 (PSEN1)
• Allelic: Adrenomyeloneuropathy, adult (ABCD1)
• Allelic: Alzheimer disease, type 3, with spastic paraparesis + apraxia (PSEN1)
• Allelic: Alzheimer disease, type 3, with spastic paraparesis + unusual plaques (PSEN1)
• Allelic: Androgen insensitivity (AR)
• Allelic: Androgen insensitivity, partial, with/-out breast cancer (AR)
• Allelic: Aphasia, primary progressive (GRN)
• Allelic: Bile acid synthesis defect, congenital, 3 (CYP7B1)
• Allelic: Brugada syndrome 9 (KCND3)
• Allelic: Cardiomyopathy, dilated, 1U (PSEN1)
• Allelic: Cardiomyopathy, dilated, 1V (PSEN2)
• Allelic: Cerebral amyloid angiopathy, PRNP-related (PRNP)
• Allelic: Ceroid lipofuscinosis, neuronal, 11 (GRN)
• Allelic: Chromosome 5q14.3 deletion syndrome (MEF2C)
• Allelic: Congenital cataracts, hearing loss + neurodegeneration (SLC33A1)
• Allelic: Corpus callosum, partial agenesis of (L1CAM)
• Allelic: Creutzfeldt-Jakob disease (PRNP)
• Allelic: Cutis laxa, AD 3 (ALDH18A1)
• Allelic: Cutis laxa, AR, type IIIA (ALDH18A1)
• Allelic: Dermatofibrosarcoma protuberans (PDGFB)
• Allelic: Dyschromatosis symmetrica hereditaria (ADAR)
• Allelic: Encephalopathy, acute, infection-induced, herpes-specific, susceptibility to, 8 (TBK1)
• 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: Essential tremor, hereditary, 4 (FUS)
• Allelic: Gerstmann-Straussler disease (PRNP)
• Allelic: Glaucoma 1, open angle, E (OPTN)
• Allelic: Glaucoma, normal tension, susceptibility to (OPTN)
• Allelic: Hydrocephalus due to aqueductal stenosis (L1CAM)
• Allelic: Hydrocephalus with Hirschsprung disease (L1CAM)
• Allelic: Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (L1CAM)
• Allelic: Hyperaldosteronism, familial, type II (CLCN2)
• Allelic: Hyperferritinemia-cataract syndrome (FTL)
• Allelic: Hypospadias 1, XL (AR)
• Allelic: Insomnia, fatal familial (PRNP)
• Allelic: Interstitial lung and liver disease (MARS syn. MARS1)
• Allelic: Kuru, susceptibility to (PRNP)
• Allelic: Lethal congenital contracture syndrome 5 (DNM2)
• Allelic: Lipodystrophy, congenital generalized, type 2 (BSCL2)
• Allelic: Long QT syndrome 11 (AKAP9)
• Allelic: Lopes-Maciel-Rodan syndrome (HTT)
• Allelic: Lymphatic malformation 3 (GJC2)
• Allelic: Macular degeneration, age-related, 7 (HTRA1)
• Allelic: Macular degeneration, age-related, neovascular type (HTRA1)
• Allelic: Multiple mitochondrial dysfunctions syndrome 3 (IBA57)
• Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
• Allelic: Myoclonus, intractable, neonatal (KIF5A)
• Allelic: Myofibromatosis, infantile 2 (NOTCH3)
• Allelic: Myofibromatosis, infantile, 1 (PDGFRB)
• Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
• Allelic: Neuropathy, hereditary sensory, type ID (ATL1)
• Allelic: Neuropathy, hereditary sensory, type IIC (KIF1A)
• Allelic: Paget disease of bone 3 (SQSTM1)
• Allelic: Pick disease (MAPT, PSEN1)
• Allelic: Pituitary adenoma 4, ACTH-secreting, somatic (USP8)
• Allelic: Polymicrogyria, bilateral temporooccipital (FIG4)
• Allelic: Pontocerebellar hypoplasia, hypotonia, respiratory insuff. syndr., neonat. lethal (ATAD3A)
• Allelic: Pontocerebellar hypoplasia, type 9 (AMPD2)
• Allelic: Short-rib thoracic dysplasia 6 with or without polydactyly (NEK1)
• Allelic: Spongiform encephalopathy with neuropsychiatric features (PRNP)
• Allelic: Stargardt disease 3 (ELOVL4)
• Allelic: Stuttering, familial persistent, 1 (AP4E1)
• Allelic: Supranuclear palsy, progressive (MAPT)
• Allelic: Supranuclear palsy, progressive atypical (MAPT)
• Allelic: Yunis-Varon syndrome (FIG4)
• 3-methylglutaconic aciduria, type I (AUH)
• Adrenoleukodystrophy (ABCD1)
• Adrenomyeloneuropathy, adult (ABCD1)
• Aicardi-Goutieres syndrome 6 (ADAR)
• Alexander disease (GFAP)
• Allan-Herndon-Dudley syndrome [ID + muscle atrophy] (SLC16A2)
• Alternating hemiplegia of childhood 2 (ATP1A3)
• Alzheimer disease 1, familial (APP)
• Alzheimer disease 9, susceptibility to (ABCA7)
• Alzheimer disease, susceptibility to [genereviews] (AKAP9)
• Alzheimer disease, susceptibility to [genereviews] (CASS4)
• Alzheimer disease, susceptibility to [genereviews] (CD2AP)
• Alzheimer disease, susceptibility to [genereviews] (CD33)
• Alzheimer disease, susceptibility to [genereviews] (CLU)
• Alzheimer disease, susceptibility to [genereviews] (EPH1)
• Alzheimer disease, susceptibility to [genereviews] (FERMT2)
• Alzheimer disease, susceptibility to [genereviews] (HLA-DRB1)
• Alzheimer disease, susceptibility to [genereviews] (HLA-DRB5)
• Alzheimer disease, susceptibility to [genereviews] (INP55D)
• Alzheimer disease, susceptibility to [genereviews] (MS4A4E)
• Alzheimer disease, susceptibility to [genereviews] (MS4A6A)
• Alzheimer disease, susceptibility to [genereviews] (PICALM)
• Alzheimer disease, susceptibility to [genereviews] (PLD3)
• Alzheimer disease, susceptibility to [genereviews] (PTK2B)
• Alzheimer disease, susceptibility to [genereviews] (SORL1)
• Alzheimer disease, susceptibility to [genereviews] (UNC5C)
• Alzheimer disease, type 3 (PSEN1)
• Alzheimer disease, type 3, with spastic paraparesis + apraxia (PSEN1)
• Alzheimer disease, type 3, with spastic paraparesis + unusual plaques (PSEN1)
• Alzheimer disease-4 (PSEN2)
• Amyotrophic lateral sclerosis 1 (SOD1)
• Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
• Amyotrophic lateral sclerosis 11 (FIG4)
• Amyotrophic lateral sclerosis 12 with/-out frontotemporal dementia (OPTN)
• Amyotrophic lateral sclerosis 15, with/-out frontotemporal dementia (UBQLN2)
• Amyotrophic lateral sclerosis 18 (PFN1)
• Amyotrophic lateral sclerosis 19 (ERBB4)
• Amyotrophic lateral sclerosis 2, juvenile (ALS2)
• Amyotrophic lateral sclerosis 20 (HNRNPA1)
• Amyotrophic lateral sclerosis 21 (MATR3)
• Amyotrophic lateral sclerosis 22 with/-out frontotemporal dementia (TUBA4A)
• Amyotrophic lateral sclerosis 23 (ANXA11)
• Amyotrophic lateral sclerosis 4, juvenile (SETX)
• Amyotrophic lateral sclerosis 5, juvenile (SPG11)
• Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
• Amyotrophic lateral sclerosis 8 (VABP)
• Amyotrophic lateral sclerosis 9 (ANG)
• Amyotrophic lateral sclerosis [MONDO:0004976] (DAO)
• Amyotrophic lateral sclerosis, susceptibility to (DCTN1)
• Amyotrophic lateral sclerosis, susceptibility to (TAF15)
• Amyotrophic lateral sclerosis, susceptibility to (UNC13A)
• Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
• Amyotrophic lateral sclerosis, susceptibility to, 25 (KIF5A)
• Basal ganglia calcification, idiopathic, 1 (SLC20A2)
• Basal ganglia calcification, idiopathic, 4 (PDGFRB)
• Basal ganglia calcification, idiopathic, 5 (PDGFB)
• Basal ganglia calcification, idiopathic, 6 (XPR1)
• Basal ganglia calcification, idiopathic, 7, AR (MYORG)
• Boucher-Neuhauser syndrome (PNPLA6)
• Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
• CAPOS syndrome (ATP1A3)
• CARASIL syndrome (HTRA1)
• CRASH syndrome (L1CAM)
• Centronuclear myopathy 1 (DNM2)
• Centronuclear myopathy 2 (BIN1)
• Cerebellar ataxia (CP)
• Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
• Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
• Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants (APP)
• Cerebral amyloid angiopathy, PRNP-related (PRNP)
• Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
• Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
• Ceroid lipofuscinosis, neuronal, 13, Kufs type (CTSF)
• Ceroid lipofuscinosis, neuronal, 4 (Kufs type), AD (DNAJC5)
• Ceroid lipofuscinosis, neuronal, 6A (CLN6)
• Ceroid lipofuscinosis, neuronal, 6B, Kufs type (CLN6)
• Charcot-Marie-Tooth disease, DI B (DNM2)
• Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
• Charcot-Marie-Tooth disease, axonal, type 2U (MARS syn. MARS1)
• Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
• Charcot-Marie-Tooth disease, type 4J (FIG4)
• Chediak-Higashi syndrome (LYST)
• Choreoacanthocytosis (VPS13A)
• Combined oxidative phosphorylation deficiency 7 (MTRFR)
• Creutzfeldt-Jakob disease (PRNP)
• Dementia, Lewy body (SNCA)
• Dementia, familial British (ITM2B)
• Dementia, familial Danish (ITM2B)
• Dementia, frontotemporal (PSEN1)
• Dementia, frontotemporal, with/-out parkinsonism (MAPT)
• Developmental + epileptic encephalopathy 53 (SYNJ1)
• Developmental + epileptic encephalopathy 89 (GAD1)
• Developmental + epileptic encephalopathy 99 (ATP1A3)
• Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
• Dystonia-12 (ATP1A3)
• Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
• Epilepsy, progressive myoclonic 2A, Lafora (EPM2A)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72_GGGGCC)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (SQSTM1)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (TBK1)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 (CCNF)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (VCP)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (CHMP2B)
• Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
• Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
• GM2-gangliosidosis, several forms (HEXA)
• Gerstmann-Straussler disease (PRNP)
• Glycogen storage disease IV (GBE1)
• HARP syndrome (PANK2)
• Harel-Yoon syndrome (ATAD3A)
• Hemosiderosis, systemic, due to aceruloplasminemia (CP)
• Hereditary motor + sensory neuropathy, Okinawa type (TFG)
• Huntington disease (HTT_CAG)
• Huntington disease-like 1 (PRNP)
• Hyperphenylalaninemia, BH4-deficient, B (GCH1)
• Hypoceruloplasminemia, hereditary (CP)
• Ichthyosis, spastic quadriplegia + mental retardation (ELOVL4)
• Inclusion body myopathy + early-onset Paget disease with/-out frontotemporal dementia 2 (HNRNPA2B1)
• Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia (HNRNPA1)
• Infantile neuroaxonal dystrophy 1 (PLA2G6)
• Kosaki overgrowth syndrome (PDGFRB)
• Kufor-Rakeb syndrome (ATP13A2)
• L-ferritin deficiency, AD + AR (FTL)
• Lateral meningocele syndrome (NOTCH3)
• Laurence-Moon syndrome (PNPLA6)
• Leukodystrophy, hypomyelinating, 2 (GJC2)
• Leukodystrophy, hypomyelinating, 4 (HSPD)
• Leukoencephalopathy with ataxia (CLCN2)
• Leukoencephalopathy with brain stem, spinal cord involvement + lactate elevation (DARS2)
• 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, diffuse hereditary, with spheroids 1 (CSF1R)
• MASA syndrome (L1CAM)
• Mast syndrome (SPG21)
• Meningioma, SIS-related (PDGFB)
• Metachromatic leukodystrophy (ARSA)
• Mitochondrial complex III deficiency, nuclear type 2 (TTC19)
• Myopathy, distal, with rimmed vacuoles (SQSTM1)
• NESCAV syndrome (KIF1A)
• Neurodegeneration with ataxia, dystonia + gaze palsy, childhood-onset (SQSTM1)
• Neurodegeneration with brain iron accumulation 1 (PANK2)
• Neurodegeneration with brain iron accumulation 2B (PLA2G6)
• Neurodegeneration with brain iron accumulation 3 (FTL)
• Neurodegeneration with brain iron accumulation 4 (C19orf12)
• Neurodegeneration with brain iron accumulation 5 (WDR45)
• Neurodegeneration with brain iron accumulation 6 (COASY)
• Neurodevelopmental disorder, dysmorphic features, spasticity + brain abnormalities (PGAP1)
• Neurodevelopmental disorder, hypotonia, stereotypic hand movements, impaired language (MEF2C)
• Neuronopathy, distal hereditary motor, type VB (REEP1)
• Neuronopathy, distal hereditary motor, type VIIB (DCTN1
• Neuropathy, distal hereditary motor, type VC (BSCL2)
• Neuropathy, hereditary sensory + autonomic, type IA (SPTLC1)
• Neuropathy, hereditary sensory + autonomic, type IX, with developmental delay (TECPR2)
• Neuropathy, hereditary sensory, type IE (DNMT1)
• Niemann-Pick disease, types C1 + D (NPC1)
• Niemann-pick disease, type C2 (NPC2)
• Oliver-McFarlane syndrome (PNPLA6)
• Ovarioleukodystrophy (EIF2B2)
• Ovarioleukodystrophy (EIF2B4)
• Ovarioleukodystrophy (EIF2B5)
• Parkinson disease 1 (SNCA)
• Parkinson disease 14, AR (PLA2G6)
• Parkinson disease 17 (VPS35)
• Parkinson disease 19a, juvenile-onset (DNAJC6)
• Parkinson disease 19b, early-onset (DNAJC6)
• Parkinson disease 20, early-onset (SYNJ1)
• Parkinson disease 4 (SNCA)
• Parkinson disease 6, early onset (PINK1)
• Parkinson disease 7, AR early-onset (PARK7)
• Parkinson disease 8 (LRRK2)
• Parkinson disease, juvenile, type 2 (PRKN)
• Pelizaeus-Merzbacher disease (PLP1)
• Perry syndrome (DCTN1)
• Pick disease (PSEN1)
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (TYROBP)
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (TREM2)
• Polyglucosan body disease, adult form (GBE1)
• Pontocerebellar hypoplasia, type 12 (COASY)
• Premature aging syndrome, Penttinen type (PDGFRB)
• Primary lateral sclerosis, juvenile (ALS2)
• Progressive complicated spastic paraplegia [panelapp] (KLC4)
• Retinal dystrophy with inner retinal dysfunction + ganglion cell abnormalities (ITM2B)
• Ritscher-Schinzel syndrome 1 [craniocerebellocardiac dysplasia] (WASHC5)
• Sandhoff disease, infantile, juvenile + adult forms (HEXB)
• Silver spastic paraplegia syndrome (BSCL2)
• Sjogren-Larsson syndrome (ALDH3A2)
• Spastic ataxia 2, AR (KIF1C)
• Spastic ataxia 5, AR (AFG3L2)
• Spastic paralysis, infantile onset ascending (ALS2)
• Spastic paraplegia 10, AD (KIF5A)
• Spastic paraplegia 11, AR (SPG11)
• Spastic paraplegia 12, AD (RTN2)
• Spastic paraplegia 13, AD (HSPD)
• Spastic paraplegia 15, AR (ZFYVE26)
• Spastic paraplegia 18, AR (ERLIN2)
• Spastic paraplegia 2, XL (PLP1)
• Spastic paraplegia 26, AR (B4GALNT1)
• Spastic paraplegia 28, AR (DDHD1)
• Spastic paraplegia 30, AD (KIF1A)
• Spastic paraplegia 30, AR (KIF1A)
• Spastic paraplegia 31, AD (REEP1)
• Spastic paraplegia 33, AD (ZFYVE17)
• Spastic paraplegia 35, AR (FA2H)
• Spastic paraplegia 39, AR (PNPLA6)
• Spastic paraplegia 3A, AD (ATL1)
• Spastic paraplegia 4, AD (SPAST)
• Spastic paraplegia 42, AD (SLC33A1)
• Spastic paraplegia 43, AR (C19orf12)
• Spastic paraplegia 44, AR (GJC2)
• Spastic paraplegia 45, AR (NT5C2)
• Spastic paraplegia 46, AR (GBA2)
• Spastic paraplegia 47, AR (AP4B1)
• Spastic paraplegia 48, AR (AP5Z1)
• Spastic paraplegia 50, AR (AP4M1)
• Spastic paraplegia 51, AR (AP4E1)
• Spastic paraplegia 52, AR (AP4S1)
• Spastic paraplegia 54, AR (DDHD2)
• Spastic paraplegia 55, AR (MTRFR)
• Spastic paraplegia 56, AR (CYP2U1)
• Spastic paraplegia 57, AR (TFG)
• Spastic paraplegia 57, AR (USP8)
• Spastic paraplegia 5A, AR (CYP7B1)
• Spastic paraplegia 6, AD (NIPA1)
• Spastic paraplegia 62 (ERLIN1)
• Spastic paraplegia 63 (AMPD2)
• Spastic paraplegia 64, AR (ENTPD1)
• Spastic paraplegia 7, AR (SPG7)
• Spastic paraplegia 72, AD (REEP2)
• Spastic paraplegia 72, AR (REEP2)
• Spastic paraplegia 73, AD (CPT1C)
• Spastic paraplegia 74, AR (IBA57)
• Spastic paraplegia 78, AR (ATP13A2)
• Spastic paraplegia 8, AD (WASHC5)
• Spastic paraplegia 9A, AD (ALDH18A1)
• Spastic paraplegia 9B, AR (ALDH18A1)
• Spastic paraplegia [GeneReviews] (ATP2B4)
• Spastic paraplegia [GeneReviews] (WDR48)
• Spastic paraplegia, optic atrophy + neuropathy (KLC2)
• Spastic tetraplegia + axial hypotonia, progressive (SOD1)
• Spinal + bulbar muscular atrophy of Kennedy (AR_CAG)
• Spinal muscular atrophy, Jokela type (CHCHD10)
• Spinal muscular atrophy, late-onset, Finkel type (VAPB)
• Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
• Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
• Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
• Spinocerebellar ataxia 13 (KCNC3)
• Spinocerebellar ataxia 19 (KCND3)
• Spinocerebellar ataxia 21 (TMEM240)
• Spinocerebellar ataxia 28 (AFG3L2)
• Spinocerebellar ataxia 34 (ELOVL4)
• Spinocerebellar ataxia 42 (CACNA1G)
• Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
• Spinocerebellar ataxia 46 (PLD3)
• Spinocerebellar ataxia, AR 18 (GRID2)
• Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
• Spongiform encephalopathy with neuropsychiatric features (PRNP)
• Tay-Sachs disease (HEXA)
• Troyer syndrome [spastic paraplegia, AR] (SPART)
• Wilson disease (ATP7B)