Agent Commons Collaborative Research

Inherited neurodegenerative disorder

rare

An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.

Identifiers
MONDO:0024237 Orphanet:183500
Part of
Hereditary neurological diseaseNeurodegenerative disease
Also known as
genetic neurodegenerative disease · hereditary neurodegenerative disease · hereditary neurodegenerative disorder

Subtypes

All diseases Rare only
Disease Subtypes
Leukodystrophy 176
Hereditary cerebellar ataxia 170
Hereditary spastic paraplegia 126
Hereditary motor neuron disease 118
Neuronal ceroid lipofuscinosis 39
Hereditary optic atrophy 26
Huntington disease and related disorders 21
Neurodegeneration with brain iron accumulation 20
Familial Alzheimer disease 16
Frontotemporal dementia 13
GM2 gangliosidosis 10
Frontotemporal dementia with motor neuron disease 10
APP-related brain and vascular amyloidosis 8
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
Progressive supranuclear palsy 8
Striatonigral degeneration 6
Ataxia-telangiectasia-like disorder 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
DCTN1-related neurodegeneration 2
ITM2B amyloidosis 2
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 2
TUBB4A-related neurologic disorder 1
Cerebellar ataxia-hypogonadism syndrome 1
Alzheimer disease 17
Alzheimer disease 18
Chediak-Higashi syndrome
Huntington disease-like 1
Huntington disease-like 2
Kennedy disease
PEHO syndrome
PRKAR1B-related neurodegenerative dementia with intermediate filaments
X-linked neurodegenerative syndrome, Bertini type
X-linked neurodegenerative syndrome, Hamel type
Agenesis of the corpus callosum with peripheral neuropathy
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Angioid streaks of choroid
Attenuated Chédiak-Higashi syndrome
Autosomal recessive cerebral atrophy
Boylan dew greco syndrome
Cerebral sclerosis similar to Pelizaeus-Merzbacher disease
Combined oxidative phosphorylation deficiency 29
Corticobasal syndrome
Deafness dystonia syndrome
Developmental and epileptic encephalopathy, 35
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Facial onset sensory and motor neuronopathy
Fatal familial insomnia
Fatal post-viral neurodegenerative disorder
Ferro-cerebro-cutaneous syndrome
Hereditary sensory neuropathy-deafness-dementia syndrome
Infantile cerebellar-retinal degeneration
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
Inherited Creutzfeldt-Jakob disease
Microphthalmia-brain atrophy syndrome
Mitochondrial DNA depletion syndrome 4a
Myoclonic cerebellar dyssynergia
Neurodegeneration and seizures due to copper transport defect
Neurodegeneration with ataxia and late-onset optic atrophy
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
Neurodegeneration, childhood-onset, with cerebellar atrophy
Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
Neurodegeneration, childhood-onset, with progressive microcephaly
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
Neurodegeneration, infantile-onset, biotin-responsive
Neurodegenerative disorder with cerebellar and caudate atrophy
Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment
Neurodegenerative syndrome due to cerebral folate transport deficiency
Neuronal intranuclear inclusion disease
Posterior cortical atrophy
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Radiation sensitivity/chromosome instability syndrome, autosomal dominant
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Severe neurodegenerative syndrome with lipodystrophy

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.