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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 4A
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Accession:DOID:0080122 term browser browse the term
Definition:A rare central nervous system demyelinating condition affecting children and young adults. Pathologic findings include a large, sharply defined, asymmetric focus of myelin destruction that may involve an entire lobe or cerebral hemisphere. The clinical course tends to be progressive and includes dementia, cortical blindness, cortical deafness, spastic hemiplegia, and pseudobulbar palsy. Concentric sclerosis of Balo is differentiated from diffuse cerebral sclerosis of Schilder by the pathologic finding of alternating bands of destruction and preservation of myelin in concentric rings. Alpers' Syndrome refers to a heterogeneous group of diseases that feature progressive cerebral deterioration and liver disease. (From Adams et al., Principles of Neurology, 6th ed, p914; Dev Neurosci 1991;13(4-5):267-73)
Synonyms:exact_synonym: ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY;   Alper Syndrome;   Alper disease;   Alper's disease;   Alper's syndrome;   Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis;   Alpers disease;   Alpers syndrome;   Alpers' disease or gray-matter degeneration;   Alpers-Huttenlocher syndrome;   Diffuse Cerebral Sclerosis;   Diffuse Cerebral Sclerosis of Schilder;   Encephalitis Periaxialis;   Encephalitis Periaxialis Concentrica;   Encephalitis Periaxialis Diffusa;   MTDPS4A;   Myelinoclastic Diffuse Scleroses;   Myelinoclastic Diffuse Sclerosis;   PNDC;   Poliodystrophia Cerebri;   Schilder disease;   Schilder's disease;   Schilders disease;   diffuse cerebral scleroses;   mitochondrial DNA depletion syndrome 4A (Alpers type);   progressive neuronal degeneration of childhood with liver disease;   progressive sclerosing poliodystrophies;   progressive sclerosing poliodystrophy;   sudanophilic cerebral sclerosis
 primary_id: MESH:D002549
 alt_id: DOID:1442;   OMIM:203700
 xref: GARD:5783;   NCI:C35257;   ORDO:726
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mitochondrial DNA depletion syndrome 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148026
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694184
RGD:15039298
RGD:8554872
RGD:11554173
RGD:7240710
RGD:8694284
RGD:8694317
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        Metabolic Brain Diseases 475
          mitochondrial encephalomyopathy 46
            mitochondrial DNA depletion syndrome 4A 5
              Pelizaeus-Merzbacher like Brain Sclerosis 0
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    mitochondrial myopathy 77
                      mitochondrial encephalomyopathy 46
                        mitochondrial DNA depletion syndrome 4A 5
                          Pelizaeus-Merzbacher like Brain Sclerosis 0
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