Mitochondrial Dna Depletion Syndrome 4a malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Blood diseases, Liver diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 48NINDS, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Mitochondrial Dna Depletion Syndrome 4a:
Orphanet epidemiological data:53
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: adolescent,adult,late childhood,young Adult
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Blood diseases, Liver diseases
ICD10: 30 29
OMIM:51 Mitochondrial DNA depletion syndrome-4A, also known as Alpers syndrome, is an autosomal recessive disorder... (203700) more...
MalaCards based summary: Mitochondrial Dna Depletion Syndrome 4a, also known as alpers syndrome, is related to ah amyloidosis and adrenoleukodystrophy, and has symptoms including microcephaly, abnormality of the eye and seizures. An important gene associated with Mitochondrial Dna Depletion Syndrome 4a is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways is tRNA Aminoacylation. Affiliated tissues include liver, cortex and brain.
Disease Ontology:11 A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has symptom convulsions.
Genetics Home Reference:25 Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Alpers-Huttenlocher syndrome typically becomes apparent in children between ages 2 and 4. People with this condition usually have three characteristic features: recurrent seizures that do not improve with treatment (intractable epilepsy), loss of mental and movement abilities (psychomotor regression), and liver disease.
NIH Rare Diseases:47 Alpers syndrome is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease. Symptoms include increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability (dementia). Most often Alpers syndrome is caused by mutations in the POLG gene. Last updated: 1/24/2011
NINDS:48 Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical symptoms: psychomotor regression (dementia); seizures; and liver disease.
UniProtKB/Swiss-Prot:69 Mitochondrial DNA depletion syndrome 4A: An autosomal recessive hepatocerebral syndrome due to mitochondrial dysfunction. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis.
Human phenotypes related to Mitochondrial Dna Depletion Syndrome 4a:63 53 (show all 47)
UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 4a:ataxia, hepatomegaly, myoclonus, vomiting, visual disturbance, unspecified visual loss
MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 4a:35
Liver, Cortex, Brain, Eye
UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 4a:69 (show all 17)
Clinvar genetic disease variations for Mitochondrial Dna Depletion Syndrome 4a:5 (show all 12)
Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 4a.
Pathways related to Mitochondrial Dna Depletion Syndrome 4a according to GeneCards Suite gene sharing:
Cellular components related to Mitochondrial Dna Depletion Syndrome 4a according to GeneCards Suite gene sharing:
Biological processes related to Mitochondrial Dna Depletion Syndrome 4a according to GeneCards Suite gene sharing:
Molecular functions related to Mitochondrial Dna Depletion Syndrome 4a according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet