MCID: CRB088
MIFTS: 32

Cerebral Atrophy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebral Atrophy

MalaCards integrated aliases for Cerebral Atrophy:

Name: Cerebral Atrophy 53 29 6 70

Classifications:



External Ids:

UMLS 70 C0235946

Summaries for Cerebral Atrophy

NINDS : 53 Cerebral atrophy is a common feature of many of the diseases that affect the brain. Atrophy of any tissue means loss of cells. In brain tissue, atrophy describes a loss of neurons and the connections between them. Atrophy can be generalized, which means that all of the brain has shrunk; or it can be focal, affecting only a limited area of the brain and resulting in a decrease of the functions that area of the brain controls. If the cerebral hemispheres (the two lobes of the brain that form the cerebrum) are affected, conscious thought and voluntary processes may be impaired. Associated Diseases/Disorders: The pattern and rate of progression of cerebral atrophy depends on the disease involved. Diseases that cause cerebral atrophy include: stroke and traumatic brain injury Alzheimer’s disease, Pick’s disease, and fronto-temporal dementia cerebral palsy, in which lesions (damaged areas) may impair motor coordination Huntington’s disease, and other hereditary diseases that are associated with genetic mutations leukodystrophies, such as Krabbe disease, which destroy the myelin sheath that protects axons mitochondrial encephalomyopathies, such as Kearns-Sayre syndrome, which interfere with the basic functions of neurons multiple sclerosis, which causes inflammation, myelin damage, and lesions in cerebral tissue infectious diseases, such as encephalitis, neurosyphilis, and AIDS, in which an infectious agent or the inflammatory reaction to it destroys neurons and their axons Symptoms of cerebral atrophy: Many diseases that cause cerebral atrophy are associated with dementia, seizures, and a group of language disorders called the aphasias.  Dementia is characterized by a progressive impairment of memory and intellectual function that is severe enough to interfere with social and work skills. Memory, orientation, abstraction, ability to learn, visual-spatial perception, and higher executive functions such as planning, organizing, and sequencing may also be impaired. Seizures can take different forms, appearing as disorientation, repetitive movements, loss of consciousness, or convulsions. Aphasias are a group of disorders characterized by disturbances in speaking and understanding language. Receptive aphasia causes impaired comprehension. Expressive aphasia is reflected in odd choices of words, the use of partial phrases, disjointed clauses, and incomplete sentences.

MalaCards based summary : Cerebral Atrophy is related to prieto x-linked mental retardation syndrome and myopathy, epilepsy, and progressive cerebral atrophy, and has symptoms including headache An important gene associated with Cerebral Atrophy is PMM2 (Phosphomannomutase 2). Affiliated tissues include brain, cortex and temporal lobe, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 73 Cerebral atrophy is a common feature of many of the diseases that affect the brain. Atrophy of any... more...

Related Diseases for Cerebral Atrophy

Diseases in the Cerebral Atrophy family:

Autosomal Recessive Cerebral Atrophy

Diseases related to Cerebral Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 293)
# Related Disease Score Top Affiliating Genes
1 prieto x-linked mental retardation syndrome 11.5
2 myopathy, epilepsy, and progressive cerebral atrophy 11.5
3 keratosis follicularis, dwarfism, and cerebral atrophy 11.5
4 developmental and epileptic encephalopathy 76 11.4
5 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism 11.4
6 pontocerebellar hypoplasia, type 2e 11.4
7 asparagine synthetase deficiency 11.4
8 pontocerebellar hypoplasia, type 2a 11.2
9 developmental and epileptic encephalopathy 79 11.1
10 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 11.1
11 pontocerebellar hypoplasia, type 2d 11.0
12 aicardi-goutieres syndrome 1 11.0
13 aicardi-goutieres syndrome 3 11.0
14 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 11.0
15 developmental and epileptic encephalopathy 17 11.0
16 aicardi-goutieres syndrome 7 11.0
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 11.0
18 developmental and epileptic encephalopathy 29 11.0
19 developmental and epileptic encephalopathy 41 11.0
20 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 11.0
21 neurodevelopmental disorder with involuntary movements 11.0
22 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 11.0
23 developmental and epileptic encephalopathy 81 11.0
24 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 11.0
25 autosomal recessive cerebral atrophy 11.0
26 incontinentia pigmenti 10.9
27 peho syndrome 10.9
28 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 10.9
29 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.9
30 ceroid lipofuscinosis, neuronal, 3 10.9
31 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 10.9
32 ceroid lipofuscinosis, neuronal, 2 10.9
33 galloway-mowat syndrome 1 10.9
34 ceroid lipofuscinosis, neuronal, 1 10.9
35 ceroid lipofuscinosis, neuronal, 5 10.9
36 oculopalatocerebral syndrome 10.9
37 congenital disorder of glycosylation, type iim 10.9
38 mohr-tranebjaerg syndrome 10.9
39 ceroid lipofuscinosis, neuronal, 8 10.9
40 ceroid lipofuscinosis, neuronal, 6 10.9
41 encephalopathy, familial, with neuroserpin inclusion bodies 10.9
42 ceroid lipofuscinosis, neuronal, 10 10.9
43 aicardi-goutieres syndrome 2 10.9
44 aicardi-goutieres syndrome 4 10.9
45 ceroid lipofuscinosis, neuronal, 7 10.9
46 aicardi-goutieres syndrome 5 10.9
47 developmental and epileptic encephalopathy 5 10.9
48 developmental and epileptic encephalopathy 13 10.9
49 aicardi-goutieres syndrome 6 10.9
50 mitochondrial dna depletion syndrome 13 10.9

Graphical network of the top 20 diseases related to Cerebral Atrophy:



Diseases related to Cerebral Atrophy

Symptoms & Phenotypes for Cerebral Atrophy

UMLS symptoms related to Cerebral Atrophy:


headache

GenomeRNAi Phenotypes related to Cerebral Atrophy according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.44 EXOSC9
2 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.44 SETBP1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.44 SETBP1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.44 SETBP1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.44 SETBP1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.44 SETBP1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.44 SETBP1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.44 EXOSC9
9 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.44 EXOSC9
10 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.44 SETBP1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.44 SETBP1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.44 EXOSC9
13 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.44 EXOSC9

Drugs & Therapeutics for Cerebral Atrophy

Search Clinical Trials , NIH Clinical Center for Cerebral Atrophy

Genetic Tests for Cerebral Atrophy

Genetic tests related to Cerebral Atrophy:

# Genetic test Affiliating Genes
1 Cerebral Atrophy 29

Anatomical Context for Cerebral Atrophy

MalaCards organs/tissues related to Cerebral Atrophy:

40
Brain, Cortex, Temporal Lobe, Bone, Pituitary, Bone Marrow, Cerebellum

Publications for Cerebral Atrophy

Articles related to Cerebral Atrophy:

(show top 50) (show all 2933)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
2
Automated Lateral Ventricular and Cranial Vault Volume Measurements in 13,851 Patients Using Deep Learning Algorithms. 61
33421645 2021
3
Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants. 61
33436160 2021
4
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. 61
32439809 2021
5
Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant. 61
33402283 2021
6
Intrauterine Zika virus infection: review of the current findings with emphasis in the prenatal and postnatal brain imaging diagnostic methods. 61
33781162 2021
7
Acute cerebral atrophy in autoimmune encephalitis complicated by haemophagocytic lymphohistiocytosis. 61
33731389 2021
8
Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families. 61
33756211 2021
9
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy. 61
33751823 2021
10
Pathogenesis of chronic subdural haematoma: a cohort evidencing de novo and transformational origins. 61
33787358 2021
11
Aggressive Intraoperative Cisternal Clot Removal After Clipping Aneurismal Subarachnoid Hemorrhage in Elderly Patients. 61
33383198 2021
12
Associations of Brain Atrophy and Cerebral Iron Accumulation at MRI with Clinical Severity in Wilson Disease. 61
33754827 2021
13
Excitatory/Inhibitory Synaptic Ratios in Polymicrogyria and Down Syndrome Help Explain Epileptogenesis in Malformations. 61
33450624 2021
14
Spinal cerebrotendinous xanthomatosis: A case report and literature review. 61
33659184 2021
15
Diagnostic Utility of Measuring Cerebral Atrophy in the Behavioral Variant of Frontotemporal Dementia and Association With Clinical Deterioration. 61
33704477 2021
16
ADSL Deficiency - The Lesser-Known Metabolic Epilepsy in Infancy. 61
32681428 2021
17
Neurocognitive functioning and radiologic changes in primary CNS lymphoma patients: results from the HOVON 105/ ALLG NHL 24 randomised controlled trial. 61
33560442 2021
18
[Molybdenum cofactor deficiency type B manifested as Leigh-like syndrome: a case report and literature review]. 61
33548958 2021
19
Relationship between cerebral atrophy and number of present teeth in elderly individuals with cognitive decline. 61
33285222 2021
20
Association between Computed Tomographic Biomarkers of Cerebral Small Vessel Diseases and Long-Term Outcome after Spontaneous Intracerebral Hemorrhage. 61
33145789 2021
21
An unusual familial dementia associated with G131V PRNP mutation. 61
32986314 2021
22
Adverse fetal and neonatal outcomes in pregnancies with confirmed Zika Virus infection in Rio de Janeiro, Brazil: A cohort study. 61
33395421 2021
23
Clinical Manifestations, Fluid Changes and Neuroimaging Alterations in Patients with General Paresis of the Insane. 61
33469294 2021
24
Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B. 61
33502714 2021
25
An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model. 61
33141462 2021
26
Neurological Manifestations of Congenital Cytomegalovirus Infection at a Tertiary Care Centre from Southern India. 61
33531772 2021
27
In vivo magnetic resonance spectroscopy in the brain of Cdkl5 null mice reveals a metabolic profile indicative of mitochondrial dysfunctions. 61
33448385 2021
28
Outcomes of patients with cobalamin C deficiency: A single center experience. 61
33473346 2021
29
Clinical and Genetic Characteristics of Mitochondrial Encephalopathy Due to FOXRED1 Mutations: Two Chinese Case Reports and a Review of the Literature. 61
33613441 2021
30
Magnetic Resonance Imaging Findings in Childhood Epilepsy at a Tertiary Hospital in Kenya. 61
33643201 2021
31
Evaluation of the relationship between cranial magnetic resonance imaging findings and clinical status in children with cerebral palsy. 61
33460326 2021
32
Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect. 61
33482855 2021
33
Neurological complications of systemic hypertension. 61
33632444 2021
34
Glial Response and Neuroinflammation in Cerebrocortical Atrophy in a Young Irish Wolfhound Dog. 61
33440672 2021
35
Neuropathological Alzheimer's Disease Lesions in Nasu-Hakola Disease with TREM2 Mutation: Atypical Distribution of Neurofibrillary Changes. 61
33216037 2021
36
Cortical progression patterns in individual ALS patients across multiple timepoints: a mosaic-based approach for clinical use. 61
33399966 2021
37
[QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature]. 61
33256324 2020
38
Urinary Arsenic and Cadmium Associations with Findings from Cranial MRI in American Indians: Data from the Strong Heart Study. 61
33332184 2020
39
Clinicopathological findings of a long-term survivor of V180I genetic Creutzfeldt-Jakob disease. 61
32178563 2020
40
Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency. 61
32890691 2020
41
Congenital external hydrocephalus in a dog. 61
31032926 2020
42
[Diffuse cerebral atrophy and reversible polyneuropathy in a patient with chronic Bromvalerylurea intoxication: a case report]. 61
33115996 2020
43
Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype. 61
32779182 2020
44
T2-highlighted U-fibres and rapid parenchymal volume loss in AESD: An under-recognised subtype of paediatric acute encephalopathy syndromes. 61
31589888 2020
45
Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review. 61
33269283 2020
46
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency. 61
32621519 2020
47
Imaging of the aging brain and development of MRI signal abnormalities. 61
32229042 2020
48
Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses. 61
32855186 2020
49
A term neonate with early myoclonic encephalopathy caused by RARS2 gene variants: a case report. 61
33209735 2020
50
Characteristic imaging features of neurovascular involvement in primary Sneddon's syndrome: an analysis of 12 cases. 61
33047201 2020

Variations for Cerebral Atrophy

ClinVar genetic disease variations for Cerebral Atrophy:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PMM2 NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) SNV Pathogenic 7723 rs80338700 GRCh37: 16:8900255-8900255
GRCh38: 16:8806398-8806398
2 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His) SNV Pathogenic 7706 rs28936415 GRCh37: 16:8905010-8905010
GRCh38: 16:8811153-8811153
3 EXOSC9 NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) SNV Likely pathogenic 549845 rs139632595 GRCh37: 4:122722620-122722620
GRCh38: 4:121801465-121801465
4 MLLT1 NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln) SNV Likely pathogenic 242890 rs749203329 GRCh37: 19:6213798-6213798
GRCh38: 19:6213787-6213787
5 SETBP1 NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg) SNV Likely pathogenic 523513 rs1555706928 GRCh37: 18:42531919-42531919
GRCh38: 18:44951954-44951954
6 DGUOK NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu) SNV Uncertain significance 523553 rs1553403624 GRCh37: 2:74173868-74173868
GRCh38: 2:73946741-73946741
7 DGUOK NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu) SNV Uncertain significance 523554 rs757962437 GRCh37: 2:74154102-74154102
GRCh38: 2:73926975-73926975
8 DNMT1 NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu) SNV Uncertain significance 373927 rs1057518774 GRCh37: 19:10259562-10259562
GRCh38: 19:10148886-10148886

Expression for Cerebral Atrophy

Search GEO for disease gene expression data for Cerebral Atrophy.

Pathways for Cerebral Atrophy

GO Terms for Cerebral Atrophy

Sources for Cerebral Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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