MCID: MYP097
MIFTS: 27

Myopathy with Lactic Acidosis, Hereditary

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Myopathy with Lactic Acidosis, Hereditary

MalaCards integrated aliases for Myopathy with Lactic Acidosis, Hereditary:

Name: Myopathy with Lactic Acidosis, Hereditary 57 29 13 6 40
Myopathy with Exercise Intolerance, Swedish Type 57 59 73
Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase 57 75
Myoglobinuria Due to Abnormal Glycolysis 57 75
Hml 57 75
Hereditary Myopathy with Lactic Acidosis Due to Iscu Deficiency 59
Myopathy with Exercise Intolerance Swedish Type 75
Hereditary Myopathy with Lactic Acidosis 75
Iron-Sulfur Cluster Deficiency Myopathy 59
Aconitase Deficiency 59
Iscu Myopathy 59
Meis 75

Characteristics:

Orphanet epidemiological data:

59
hereditary myopathy with lactic acidosis due to iscu deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
chronic course with exacerbations and remissions
low physical performance
early exhaustion on exertion


HPO:

32
myopathy with lactic acidosis, hereditary:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 255125
Orphanet 59 ORPHA43115
UMLS via Orphanet 74 C1850718
ICD10 via Orphanet 34 G71.3
MedGen 42 C1850718
UMLS 73 C1850718

Summaries for Myopathy with Lactic Acidosis, Hereditary

UniProtKB/Swiss-Prot : 75 Myopathy with exercise intolerance Swedish type: Autosomal recessive metabolic disease characterized by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, and cardiac palpitations in association with lactic acidosis. The biochemical phenotype is characterized by a deficiency in mitochondrial iron-sulfur proteins and impaired muscle oxidative metabolism.

MalaCards based summary : Myopathy with Lactic Acidosis, Hereditary, also known as myopathy with exercise intolerance, swedish type, is related to myopathy with deficiency of iron-sulfur cluster assembly enzyme and leukemia, and has symptoms including muscle cramp An important gene associated with Myopathy with Lactic Acidosis, Hereditary is ISCU (Iron-Sulfur Cluster Assembly Enzyme). Affiliated tissues include testes and skeletal muscle, and related phenotypes are muscle weakness and myopathy

OMIM : 57 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 (summary by Sanaker et al., 2010). (255125)

Related Diseases for Myopathy with Lactic Acidosis, Hereditary

Diseases related to Myopathy with Lactic Acidosis, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 myopathy with deficiency of iron-sulfur cluster assembly enzyme 10.9
2 leukemia 9.9
3 pancreatitis 9.9
4 mitochondrial myopathy 9.8
5 myopathy 9.8
6 spondyloarthropathy 1 9.8
7 breast cancer 9.8
8 ovarian cancer 9.8
9 neuroblastoma 9.8
10 leukemia, acute myeloid 9.8
11 psoriatic arthritis 9.8
12 arthritis 9.8
13 pneumoconiosis 9.8
14 anthracosis 9.8
15 acute pancreatitis 9.8
16 spondylitis 9.8
17 myeloid leukemia 9.8
18 psoriasis 9.8

Graphical network of the top 20 diseases related to Myopathy with Lactic Acidosis, Hereditary:



Diseases related to Myopathy with Lactic Acidosis, Hereditary

Symptoms & Phenotypes for Myopathy with Lactic Acidosis, Hereditary

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
myopathy
muscle cramps
exercise intolerance
premature exertional muscle weakness
muscles become hard and tender during exercise
more
Laboratory Abnormalities:
myoglobinuria
increased serum creatine kinase during episodes
disproportionate work-related increase in blood lactate and pyruvate
low maximal oxygen uptake on exercise testing

Metabolic Features:
lactic acidosis


Clinical features from OMIM:

255125

Human phenotypes related to Myopathy with Lactic Acidosis, Hereditary:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 myopathy 32 HP:0003198
3 dyspnea 32 HP:0002094
4 elevated serum creatine phosphokinase 32 HP:0003236
5 increased serum lactate 32 HP:0002151
6 lactic acidosis 32 HP:0003128
7 mitochondrial myopathy 32 HP:0003737
8 muscle cramps 32 HP:0003394
9 increased intramyocellular lipid droplets 32 HP:0012240
10 exercise intolerance 32 HP:0003546
11 palpitations 32 HP:0001962
12 myoglobinuria 32 HP:0002913
13 rhabdomyolysis 32 occasional (7.5%) HP:0003201
14 decreased activity of mitochondrial complex i 32 HP:0011923
15 sideroblastic anemia 32 HP:0001924
16 abnormal iron deposition in mitochondria 32 HP:0008306
17 subsarcolemmal accumulations of abnormally shaped mitochondria 32 HP:0003548
18 decreased activity of mitochondrial complex ii 32 HP:0008314
19 decreased activity of mitochondrial complex iii 32 HP:0011924

UMLS symptoms related to Myopathy with Lactic Acidosis, Hereditary:


muscle cramp

Drugs & Therapeutics for Myopathy with Lactic Acidosis, Hereditary

Search Clinical Trials , NIH Clinical Center for Myopathy with Lactic Acidosis, Hereditary

Genetic Tests for Myopathy with Lactic Acidosis, Hereditary

Genetic tests related to Myopathy with Lactic Acidosis, Hereditary:

# Genetic test Affiliating Genes
1 Myopathy with Lactic Acidosis, Hereditary 29 ISCU

Anatomical Context for Myopathy with Lactic Acidosis, Hereditary

MalaCards organs/tissues related to Myopathy with Lactic Acidosis, Hereditary:

41
Testes, Skeletal Muscle

Publications for Myopathy with Lactic Acidosis, Hereditary

Articles related to Myopathy with Lactic Acidosis, Hereditary:

# Title Authors Year
1
Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis. ( 22155317 )
2012

Variations for Myopathy with Lactic Acidosis, Hereditary

ClinVar genetic disease variations for Myopathy with Lactic Acidosis, Hereditary:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ISCU ISCU, IVS5, G-C, +382 single nucleotide variant Pathogenic
2 ISCU NM_213595.3(ISCU): c.149G> A (p.Gly50Glu) single nucleotide variant Pathogenic rs267607190 GRCh37 Chromosome 12, 108958089: 108958089
3 ISCU NM_213595.3(ISCU): c.149G> A (p.Gly50Glu) single nucleotide variant Pathogenic rs267607190 GRCh38 Chromosome 12, 108564313: 108564313
4 ISCU NM_213595.3(ISCU): c.418+382G> C single nucleotide variant Pathogenic rs767000507 GRCh37 Chromosome 12, 108961426: 108961426
5 ISCU NM_213595.3(ISCU): c.418+382G> C single nucleotide variant Pathogenic rs767000507 GRCh38 Chromosome 12, 108567650: 108567650

Expression for Myopathy with Lactic Acidosis, Hereditary

Search GEO for disease gene expression data for Myopathy with Lactic Acidosis, Hereditary.

Pathways for Myopathy with Lactic Acidosis, Hereditary

GO Terms for Myopathy with Lactic Acidosis, Hereditary

Sources for Myopathy with Lactic Acidosis, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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