Mitochondrial Dna Depletion Syndrome 4a malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Liver diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 28ICD10, 37MeSH, 43NCIt, 38MESH via Orphanet, 67UMLS via Orphanet, 29ICD10 via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Mitochondrial Dna Depletion Syndrome 4a:
Orphanet epidemiological data:52
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, Liver diseases
ICD10: 29 28
OMIM:50 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 Transcriptional activation of mitochondrial biogenesis. Affiliated tissues include liver, cortex and brain.
Disease Ontology:11 A mitochondiral metabolism disease that is characterized by progressive degeneration of grey matter in the cerebrum and has symptom intractable epilepsy, has symptom psychomotor regression, and has symptom liver disease.
NIH Rare Diseases:46 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
UniProtKB/Swiss-Prot:68 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.
NINDS:47 Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical symptoms: psychomotor regression (dementia); seizures; and liver disease.
Genetics Home Reference:24 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.
Symptoms by clinical synopsis from OMIM:203700
Clinical features from OMIM:203700
Symptoms:11 52 (show all 22)
HPO human phenotypes related to Mitochondrial Dna Depletion Syndrome 4a:(show all 38)
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:34
Liver, Cortex, Brain, Eye
UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 4a:68 (show all 17)
Clinvar genetic disease variations for Mitochondrial Dna Depletion Syndrome 4a:5
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:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet