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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Alpers-Huttenlocher syndrome
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Accession:DOID:0080122 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26. (DO)
Synonyms:exact_synonym: Alper disease;   Alper syndrome;   Alper's disease;   Alper's syndrome;   Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis;   Alpers disease;   Alpers progressive infantile poliodystrophy;   Alpers syndrome;   Alpers' disease or gray-matter degeneration;   Diffuse Cerebral Sclerosis;   Diffuse Cerebral Sclerosis of Schilder;   Encephalitis Periaxialis;   Encephalitis Periaxialis Concentrica;   Encephalitis Periaxialis Diffusa;   MTDPS4A;   Myelinoclastic Diffuse Scleroses;   PNDC;   Schilder disease;   Schilder's disease;   Schilders disease;   diffuse cerebral scleroses;   mitochondrial DNA depletion syndrome 4A;   mitochondrial DNA depletion syndrome 4A (Alpers type);   myelinoclastic diffuse sclerosis;   poliodystrophia cerebri;   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;   ICD10CM:G31.81;   NCI:C35257;   ORDO:726


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Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO
IAGP		 DNA:mutations:cds:
DNA:missense mutations:cds:
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy		 OMIM
CTD
ClinVar
RGD		 PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 More... RGD:8694184, RGD:8694284, RGD:8694317, RGD:15039298 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532 NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Nutritional and Metabolic Diseases 8236
      disease of metabolism 8236
        Metabolic Brain Diseases 1486
          mitochondrial encephalomyopathy 78
            Alpers-Huttenlocher syndrome 7
              Pelizaeus-Merzbacher like Brain Sclerosis 0
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        peripheral nervous system disease 4113
          neuropathy 3898
            neuromuscular disease 3056
              muscular disease 2146
                muscle tissue disease 1293
                  myopathy 1008
                    mitochondrial myopathy 123
                      mitochondrial encephalomyopathy 78
                        Alpers-Huttenlocher syndrome 7
                          Pelizaeus-Merzbacher like Brain Sclerosis 0
paths to the root