HML
MCID: MYP097
MIFTS: 30

Myopathy with Lactic Acidosis, Hereditary (HML)

Categories: Genetic diseases, Metabolic diseases, Neuronal 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 58 30 13 6 41
Myopathy with Exercise Intolerance, Swedish Type 58 60 74
Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase 58 76
Myoglobinuria Due to Abnormal Glycolysis 58 76
Hml 58 76
Hereditary Myopathy with Lactic Acidosis Due to Iscu Deficiency 60
Myopathy with Exercise Intolerance Swedish Type 76
Hereditary Myopathy with Lactic Acidosis 76
Iron-Sulfur Cluster Deficiency Myopathy 60
Aconitase Deficiency 60
Iscu Myopathy 60
Meis 76

Characteristics:

Orphanet epidemiological data:

60
hereditary myopathy with lactic acidosis due to iscu deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
myopathy with lactic acidosis, hereditary:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 255125
ICD10 via Orphanet 35 G71.3
UMLS via Orphanet 75 C1850718
Orphanet 60 ORPHA43115
MedGen 43 C1850718
UMLS 74 C1850718

Summaries for Myopathy with Lactic Acidosis, Hereditary

UniProtKB/Swiss-Prot : 76 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 iscu and myopathy with deficiency of iron-sulfur cluster assembly enzyme, 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 skeletal muscle, testes and eye, and related phenotypes are rhabdomyolysis and muscle weakness

OMIM : 58 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 36)
# Related Disease Score Top Affiliating Genes
1 myopathy with deficiency of iscu 11.7
2 myopathy with deficiency of iron-sulfur cluster assembly enzyme 11.1
3 lactic acidosis 10.3
4 muscle disorders 10.3
5 myoglobinuria 10.1
6 myopathy 10.1
7 breast cancer 10.1
8 blood group, gerbich system 10.1
9 al-raqad syndrome 10.1
10 mitochondrial myopathy 10.0
11 spondyloarthropathy 1 9.9
12 blood group, colton system 9.9
13 diabetes mellitus, noninsulin-dependent 9.9
14 multiple sclerosis 9.9
15 ovarian cancer 9.9
16 rheumatoid arthritis 9.9
17 periodontitis, chronic 9.9
18 bornholm eye disease 9.9
19 ascaris lumbricoides infection 9.9
20 salla disease 9.9
21 psoriatic arthritis 9.9
22 pulmonary hypertension, primary, 3 9.9
23 arthritis 9.9
24 leukemia 9.9
25 lymphedema 9.9
26 pneumoconiosis 9.9
27 anthracosis 9.9
28 gastric ulcer 9.9
29 constipation 9.9
30 acute pancreatitis 9.9
31 ascaridiasis 9.9
32 pancreatitis 9.9
33 spondylitis 9.9
34 periodontitis 9.9
35 psoriasis 9.9
36 bowenoid papulosis 9.9

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

Human phenotypes related to Myopathy with Lactic Acidosis, Hereditary:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 rhabdomyolysis 33 occasional (7.5%) HP:0003201
2 muscle weakness 33 HP:0001324
3 myopathy 33 HP:0003198
4 dyspnea 33 HP:0002094
5 increased serum lactate 33 HP:0002151
6 lactic acidosis 33 HP:0003128
7 mitochondrial myopathy 33 HP:0003737
8 increased intramyocellular lipid droplets 33 HP:0012240
9 exercise intolerance 33 HP:0003546
10 myoglobinuria 33 HP:0002913
11 palpitations 33 HP:0001962
12 decreased activity of mitochondrial complex i 33 HP:0011923
13 decreased activity of mitochondrial complex ii 33 HP:0008314
14 decreased activity of mitochondrial complex iii 33 HP:0011924
15 elevated serum creatine kinase 33 HP:0003236
16 sideroblastic anemia 33 HP:0001924
17 abnormal iron deposition in mitochondria 33 HP:0008306
18 muscle spasm 33 HP:0003394
19 subsarcolemmal accumulations of abnormally shaped mitochondria 33 HP:0003548

Symptoms via clinical synopsis from OMIM:

58
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

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 30 ISCU

Anatomical Context for Myopathy with Lactic Acidosis, Hereditary

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

42
Skeletal Muscle, Testes, Eye

Publications for Myopathy with Lactic Acidosis, Hereditary

Articles related to Myopathy with Lactic Acidosis, Hereditary:

# Title Authors Year
1
The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1. ( 22125086 )
2012
2
Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice. ( 21165651 )
2011
3
Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. ( 20206689 )
2010
4
Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathy. ( 19846308 )
2009
5
Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy. ( 19567699 )
2009
6
Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect. ( 18296749 )
2008
7
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. ( 18304497 )
2008
8
HEREDITARY METABOLIC MYOPATHY WITH PAROXYSMAL MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS. ( 14213465 )
1964

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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