MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
Acidosis, Lactic (D000140)
Parent Node:
Muscular Diseases (D009135)
..Starting node
Myopathy with Lactic Acidosis, Hereditary (C564972)

       Child Nodes:

 Sister Nodes: 
..expandAlpha-B Crystallinopathy (C563848)
..expandAnal Sphincter Myopathy, Internal (C566287)
..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..expandArthrogryposis (D001176) Child55
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..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandChanarin-Dorfman Syndrome (C536560)
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..expandContracture (D003286) Child41
..expandCraniomandibular Disorders (D017271) Child4
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..expandEpiphyseal Dysplasia, Multiple, with Myopathy (C563420)
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..expandErythrocyte Lactate Transporter Defect (C565449)
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..expandHypertrophia Musculorum Vera (C564152)
..expandIsaacs Syndrome (D020386)
..expandKocher-Debre-Semelaigne syndrome (C537211)
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..expandMedial Tibial Stress Syndrome (D058923)
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMuscle Cramp (D009120) Child3
..expandMuscle Neoplasms (D019042)
..expandMuscle Rigidity (D009127) Child3
..expandMuscle Spasticity (D009128) Child17
..expandMuscle Weakness (D018908) Child5  LSDB C:2
..expandMuscular Disorders, Atrophic (D020966) Child120  LSDB C:1
..expandMuscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..expandMusculoskeletal Pain (D059352) Child2
..expandMyalgia (D063806)
..expandMyofascial Pain Syndromes (D009209) Child1
..expandMyopathic carnitine deficiency (C536100)
..expandMyopathies, Structural, Congenital (D020914) Child34
..expandMyopathy due to Malate-Aspartate Shuttle Defect (C564973)
..expandMyopathy with Giant Abnormal Mitochondria (C564971)
..expandMyopathy with Lactic Acidosis, Hereditary (C564972)  LSDB  L: 00476;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandMyopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..expandMyopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..expandMyopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
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..expandMyopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..expandMyopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
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..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)
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..expandRippling muscle disease, 1 (C535686)
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..expandSingleton Merten syndrome (C537343)
..expandSystemic carnitine deficiency (C536778)  LSDB  L: 00473;
..expandTel Hashomer camptodactyly syndrome (C536953)
..expandTendinopathy (D052256) Child5
..expandTreft Sanborn Carey syndrome (C536544)
..expandUruguay Faciocardiomusculoskeletal Syndrome (C564544)
..expandVacuolar myopathy (C536522)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8506
Name:Myopathy with Lactic Acidosis, Hereditary
Alternative IDs:OMIM:255125
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;
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
20 HP:0001924Sideroblastic anemia
NAMDC:  Sideroblastic anemia
21 HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria
Disease Causing ClinVar Variants
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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