List of diseases

281 diseases found

Others

• 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD)
• 5-FU induced leukoencephalopathy

A

• Aceruloplasminemia
• Acute cerebellar ataxia
• Acute disseminated encephalomyelitis (ADEM)
• Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD)
• Acute hemorrhagic leukoencephalitis (AHLE)
• Acute necrotizing encephalopathy (ANE)
• Acute shock with encephalopathy and multiorgan failure (ASEM)
• Adenylosuccinate lyase deficiency (ADSLD)
• Adrenoleukodystrophy (ALD)
• Adult polyglucosan body disease (APBD)
• Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
• Adult-onset type II citrullinemia (CTLN2)
• Aicardi-Goutières syndrome (AGS)
• Alexander disease (Adult type)
• Alexander disease (Infantile type)
• Alzheimer's disease
• Amyotrophic lateral sclerosis (ALS)
• Anti-LGI1 antibody encephalitis
• Anti-Ma2 related encephalitis
• Anti-NMDA receptor antibody encephalitis
• Argyrophilic grain disease (AGD)
• Artery of Percheron territory infarct
• Aspergillosis
• Ataxia telangiectasia (AT)
• Ataxia with isolated vitamin E deficiency (AVED)
• Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy
• Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

B

• Bacterial meningitis
• Behçet's disease
• Beta-propeller protein-associated neurodegeneration (BPAN)
• Bickerstaff brainstem encephalitis
• Biotin-thiamine-responsive basal ganglia disease (BTBGD)
• Brain abscess
• Brainstem encephalitis

C

• Canavan disease
• Carbon monoxide poisoning
• Cat-scratching encephalopathy
• Celiac disease
• Cerebellar, hippocampal, and basal nuclei transient edema with restricted diffusion (CHANTER) syndrome
• Cerebral amyloid angiopathy (CAA)
• Cerebral arteriopathy associated with ACTA2 mutations
• Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
• Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
• Cerebral malaria
• Cerebral venous and sinus thrombosis (CVST)
• Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
• Cerebrotendinous xanthomatosis (CTX)
• Chanarin-Dorfman syndrome (CDS)
• Chorea acanthocytosis
• Chromosome 18q deletion syndrome
• Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS)
• Chronic progressive external ophthalmoplegia (CPEO)
• CLCN2-related leukoencephalopathy
• CLDN11-related hypomyelinating leukodystrophy (HLD22)
• Cocaine intoxication
• Cockayne syndrome
• Coenzyme Q10 deficiency
• COL4A1/COL4A2-related disorders
• Congenital disorders of glycosylation (CDG)
• Contrast-induced encephalopathy
• Cortical cerebellar atrophy (CCA)
• Corticobasal syndrome (CBS)
• Creutzfeldt-Jacob disease (CJD)
• Cryptococcosis
• Cryptogenic new-onset refractory status epilepticus (C-NORSE)
• Cysticercosis
• Cytomegalovirus (CMV) infection
• Cytomegalovirus (CMV) infection (neonatal)

D

• D-bifunctional protein (DBP) deficiency
• Deep cerebral venous and sinus thrombosis (DCVST)
• Dementia with Lewy body (DLB)
• Dengue encephalitis
• Dentatorubral-Pallidoluysian Atrophy (DRPLA)
• Dextromethorphan-Associated Neurotoxicity with Cerebellar Edema (DANCE) syndrome
• Diabetic hemiballism
• Diffuse hemispheric glioma, H3 G34-Mutant
• Diffuse neurofibrillary tangles with calcification (DNTC)
• Dyke-Davidoff-Masson Syndrome (DDMS)

E

• Early onset ataxia with oculomotor apraxia and hypoalbuminemia (EAOH)
• EPRS1 related hypomyelinating leukodystrophy (HLD15)
• Epstein-Barr virus encephalitis
• Erdheim-Chester disease (ECD)
• Ethylene glycol intoxication

F

• Fabry disease
• Familial/Hereditary spastic paraplesia (FSP/HSP)
• Focal cortical dysplasia (FCD)
• Fragile X associated tremor-ataxia syndrome (FXTAS)
• Fragile X syndrome (FXS)
• Friedreich's ataxia (FA)
• Frontotemporal lobar degeneration (FTLD)
• Fructose-1,6-bisphosphatase deficiency (FBP1D)
• Fucosidosis

G

• Galactosemia
• Glycogen storage disease type I (GSD I)
• Glycogen storage disease type II (GSD II)
• GM1-gangliosidosis (adult onset)
• GM1-gangliosidosis (infantile onset)
• GM2-gangliosidosis (infantile)

H

• Hashimoto's encephalopathy
• Hemimegalencephaly (HME)
• Hemiplegic migraine
• Hemolytic uremic syndrome (HUS)
• Hepatic encephalopathy
• Heroin intoxication
• Herpes simplex encephalitis
• Herpes simplex encephalitis (neonatal)
• High altitude cerebral edema (HACE)
• Hippocampal sclerosis
• Histoplasmosis
• HIV encephalopathy
• HIV encephalopathy (neonatal)
• Homocystinuria
• HTLV-1 associated myelopathy (HAM)
• Human herpesvirus 6 encephalitis
• Huntington's disease
• Hyperammonemia
• Hypertrophic pachymeningitis
• Hypoglycemic encephalopathy
• Hypomyelinating leukodystrophy-3 (HLD3)
• Hypomyelination and congenital cataract (HLD5)
• Hypomyelination of early myelinating structures (HEMS)
• Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC, HLD6)
• Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)
• Hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H syndrome, HLD7)

I

• I-cell disease
• Idiopathic normal pressure hydrocephalus (iNPH)
• IgG4-related disease
• Incontinentia pigmenti
• Infantile Refsum disease (IRD)
• Infantile traumatic brain injury with a biphasic clinical course and late reduced diffusion (TBIRD)
• Inflammatory cerebral amyloid angiopathy (ICAA)
• Isovaleric acidemia

J

• Japanese encephalitis
• JC virus granule cell neuronopathy (JCV GCN)

K

• Krabbe disease

L

• L-2-hydroxyglutaric aciduria (L2HGA)
• Lead poisoning
• Leber hereditary optic neuropathy (LHON)
• Lehermitte-Duclos disease
• Leigh syndrome
• Leukoencephalopathy caused by autosomal recessive mutations in the mitochondrial alanyl-tRNA synthetase gene (AARS2 leukoencephalopathy)
• Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
• Leukoencephalopathy with calcifications and cysts (LCC)
• Limbic encephalitis
• Listeria rhombencephalitis
• LMNB1-related autosomal dominant leukodystrophy
• Lowe syndrome
• Lyme neuroborreliosis
• Lymphocytic hypophysitis (LYH)
• Lymphomatoid granulomatosis (LYG)

M

• Manganese poisoning
• Mannosidosis
• Maple syrup urine disease (MSUD)
• Marchiafava-Bignami disease
• Marinesco-Sjögren syndrome (MSS)
• McLeod's syndrome
• MCT8 deficiency (Allan-Herndon-Dudley syndrome)
• Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
• MEGDEL syndrome
• Menkes disease
• Metachromatic leukodystrophy (MLD)
• Metformin intoxication
• Methanol intoxication
• Methcathinone toxicity
• Methotrexate leukoencephalopathy
• Methylenetetrahydrofolate reductase (MTHFR) deficiency
• Methylmalonic acidemia (MMA)
• Metronidazole induced encephalopathy
• Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS)
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS)
• Mitochondrial Hsp60 chaperonopathy (HLD4)
• Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
• Mitochondrial protein-associated neurodegeneration (MPAN)
• MOG antibody-associated disease (MOGAD)
• Molybdenum cofactor deficiency (MOCOD)
• Mucolipidosis type IV
• Mucopolysaccharidoses (MPS)
• Mucormycosis
• Multiple sclerosis (MS)
• Multiple system atrophy (MSA)
• Mycoplasma pneumoniae ecephalitis
• Myoclonus epilepsy associated with ragged-red fibers (MERRF)
• Myotonic dystrophy

N

• Nasu-Hakola disease
• Neuroferritinopathy
• Neuromyelitis optica spectrum disorder (NMOSD)
• Neuronal ceroid lipofuscinosis (NCL)
• Neuronal intranuclear inclusion disease (NIID)
• Nieman-Pick disease type C
• Nonketotic Hyperglycinemia

O

• Organic mercury poisoning (Minamata disease)
• Ornithine transcarbamylase deficiency (OTCD)
• Osmotic demyelination syndrome (ODS)

P

• Pantothenate kinase-associated neurodegeneration (PKAN)
• Paraneoplastic cerebellar degeneration (PCD)
• Paraneoplastic chorea (PC)
• Paraneoplastic myelopathy
• Paraneoplastic neuropathy (PNN)
• Parechovirus encephalitis
• Parkinson' disease
• Parry-Romberg syndrome
• PDE10A-associated childhood-onset chorea with bilateral striatal lesions
• Pelizaeus-Merzbacher disease (PMD, HLD1)
• Pelizaeus-Merzbacher-like disease (PMLD, HLD2)
• Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH)
• Peroxisomal acyl-CoA oxidase deficiency (ACOX1 deficiency)
• Phenylketonuria (PKU)
• Phospholipase A2-Associated Neurodegeneration (PLAN)
• PMM2-congenital disorder of glycosylation (PMM2-CDG)
• Poliomyelitis-like syndrome
• Polymerase γ-related disorders (POLG-RDs)
• Porphyria
• Posterior cortical atrophy (PCA)
• Posterior reversible encephalopathy syndrome (PRES)
• Primary angiitis of the central nervous system (PACNS)
• Primary intracranial sarcoma, DICER1-mutant
• Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome
• Progressive multifocal leukoencephalopathy (PML)
• Progressive supranuclear palsy (PSP)
• Propionic acidemia
• Pseudo-neonatal adrenoleukodystrophy (P-NALD)
• Pyogenic ventriculitis
• Pyruvate carboxylase deficiency
• Pyruvate dehydrogenase complex deficiency (PDCD)

R

• RARS1 related hypomyelinating leukodystrophy (HLD9)
• Rasmussen's encephalitis
• Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)
• Reversible cerebral vasoconstriction syndrome (RCVS)
• Reye syndrome
• Rheumatoid arthritis

S

• Salla disease
• Sarcoidosis
• Sjögren syndrome
• Sjögren-Larsson syndrome (SLS)
• Smith-Lemli-Opitz syndrome (SLOS)
• Spastic paraplegia type 2 (SPG2)
• Spinocerebellar ataxia 1 (SCA1)
• Spinocerebellar ataxia 17 (SCA17)
• Spinocerebellar ataxia 2 (SCA2)
• Spinocerebellar ataxia 20 (SCA20)
• Spinocerebellar ataxia 3 (SCA3)
• Spinocerebellar ataxia 31 (SCA31)
• Spinocerebellar ataxia 6 (SCA6)
• Spinocerebellar ataxia 7 (SCA7)
• Spinocerebellar ataxia 8 (SCA8)
• Status epilepticus (SE)
• Striatal encephalitis
• Subacute sclerosing panencephalitis (SSPE)
• Subarachnoid hemorrhage (SAH)
• Subdural/Epidural empyema
• Sugihiratake mushroom encephalopathy
• Sulfite oxidase deficiency (SOD)
• Susac syndrome
• Sweet disease
• Syphilis
• Systemic lupus erythematosus (SLE)

T

• TMEM106B related hypomyelinating leukodystrophy (HLD16)
• TMEM63A related hypomyelinating leukodystrophy (HLD19)
• Toluen poisoning
• Toxoplasmosis
• Toxoplasmosis (neonatal)
• Transient global amnesia
• Trousseau syndrome
• TUBB4A-related hypomyelinating leukodystrophy
• Tuberculous meningitis
• Tumefactive multiple sclerosis

U

• Urbach-Wiethe disease
• Uremic encephalopathy

V

• Vanishing white matter disease (VWMD)
• Varicella-zoster virus (VZV) infection
• Vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM)
• Vitamin B12 deficiency
• Vogt-Koyanagi-Harada disease

W

• Wernicke encephalopathy (WE)
• Wilson disease
• Wolfram syndrome

X

• X-linked Charcot-Marie-Tooth disease type 1 (CMTX1)
• Xeroderma pigmentosum (XP)

Z

• Zika virus infection (neonatal)