MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Acidosis, Lactic (D000140)
Parent Node:
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Muscular Diseases (D009135)
..Starting node
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Myopathy with Lactic Acidosis, Hereditary (C564972)

       Child Nodes:



 Sister Nodes: 
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..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
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..expandMuscle Cramp (D009120) Child3
..expandMUSCLE HYPERTROPHY (OMIM:614160)
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..expandMuscle Rigidity (D009127) Child3
..expandMuscle Spasticity (D009128) Child17
..expandMuscle Weakness (D018908) Child5  LSDB C:2
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..expandMuscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..expandMusculoskeletal Pain (D059352) Child2
..expandMyalgia (D063806)
..expandMyofascial Pain Syndromes (D009209) Child1
..expandMyopathic carnitine deficiency (C536100)
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..expandMYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
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..expandMyopathy with Lactic Acidosis, Hereditary (C564972)  LSDB  L: 00476;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8506
Name:Myopathy with Lactic Acidosis, Hereditary
Definition:
Alternative IDs:OMIM:255125
ParentIDs:MESH:D000140|MESH:D009135
TreeNumbers:C05.651/C564972 |C10.668.491/C564972 |C18.452.076.176.180/C564972
Synonyms:Hereditary Myopathy with Lactic Acidosis |HML |Iron-Sulfur Cluster Deficiency Myopathy |Myoglobinuria due to Abnormal Glycolysis |Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme |Myopathy with Deficiency of ISCU |Myopathy with Deficiency of Suc
Slim Mappings:Metabolic disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C564972
MeSH: C564972
OMIM: 255125;
MSeqDR LSDB: 00476;  
Genes: ISCU;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003621Juvenile onset
3 HP:0008306Abnormal iron deposition in mitochondria
4 HP:0011923Decreased activity of mitochondrial complex I
5 HP:0008314Decreased activity of mitochondrial complex II
6 HP:0011924Decreased activity of mitochondrial complex III
7 HP:0002094Dyspnea
NAMDC:  Chronic shortness of breath
8 HP:0003236Elevated serum creatine phosphokinase
9 HP:0003546Exercise intolerance
NAMDC:  Exercise intolerance
10 HP:0012240Increased intramyocellular lipid droplets
11 HP:0002151Increased serum lactate
12 HP:0003128Lactic acidosis
13 HP:0003737Mitochondrial myopathy
14 HP:0003394Muscle cramps
15 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
16 HP:0002913Myoglobinuria
NAMDC:  Myoglobinuria
17 HP:0003198Myopathy
NAMDC:  Myopathy
18 HP:0001962Palpitations
19 HP:0003201Rhabdomyolysis
NAMDC:  Rhabdomyolysis
HP:0040283
20 HP:0001924Sideroblastic anemia
NAMDC:  Sideroblastic anemia
21 HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_213595.3(ISCU):c.149G>A (p.Gly50Glu)23479ISCUPathogenic267607190RCV000000819; NMedGen:C1850718,OMIM:255125, Orphanet:ORPHA4311512108958089108958089OMIM Allelic Variant:611911.0002C1850718 255125 Myopathy with lactic acidosis, hereditary;
NM_213595.3(ISCU):c.418+382G>C23479ISCUPathogenic767000507RCV000208760; NMedGen:C1850718,OMIM:255125, Orphanet:ORPHA4311512108961426108961426-C1850718 255125 Myopathy with lactic acidosis, hereditary;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000136003 MSeqDR Search EnsemblISCU112iron-sulfur cluster assembly enzyme [Source:HGNC Symbol;Acc:29882]00476

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