Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Myopathy with Lactic Acidosis, Hereditary
go back to main search page
Accession:DOID:9006323 term browser browse the term
Definition:Hereditary myopathy with lactic acidosis is an autosomal recessive muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. Biochemical features include lactic acidosis and, rarely, rhabdomyolysis. It is a chronic disorder with remission and exacerbation of the muscle phenotype. yopathy with lactic acidosis, also known as Swedish type myopathy with exercise intolerance, is caused by homozygous or compound heterozygous mutation in the ISCU gene, encoding the iron-sulfur cluster scaffold protein, on chromosome 12q24. (OMIM)
Synonyms:exact_synonym: HML;   Iron-Sulfur Cluster Deficiency Myopathy;   Myoglobinuria due to Abnormal Glycolysis;   Myopathy with Deficiency of ISCU;   Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme;   Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase;   Myopathy with Exercise Intolerance, Swedish Type
 primary_id: MESH:C564972;   OMIM:255125
 alt_id: RDO:0013750
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Myopathy with Lactic Acidosis, Hereditary term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iscu iron-sulfur cluster assembly enzyme JBrowse link 12 48,621,454 48,627,297 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        muscular disease 959
          Myopathy with Lactic Acidosis, Hereditary 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                Myopathy with Lactic Acidosis, Hereditary 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.