MCID: MTC026
MIFTS: 26

Mitochondrial Myopathy with Lactic Acidosis

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

Aliases & Classifications for Mitochondrial Myopathy with Lactic Acidosis

MalaCards integrated aliases for Mitochondrial Myopathy with Lactic Acidosis:

Name: Mitochondrial Myopathy with Lactic Acidosis 57 53 75 29 6
Mmla 57 75
Metabolic Myopathy Associated with Chronic Lactic Acidemia, Growth Failure, and Nerve Deafness 53
Mitochondrial Myopathy-Lactic Acidosis-Hearing Loss Syndrome 59
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome 59
Myopathy, Mitochondrial, with Lactic Acidosis 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first year of life
one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015)


HPO:

32
mitochondrial myopathy with lactic acidosis:
Onset and clinical course infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Myopathy with Lactic Acidosis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2597Disease definitionMitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.Visit the Orphanet disease page for more resources.

MalaCards based summary : Mitochondrial Myopathy with Lactic Acidosis, also known as mmla, is related to mitochondrial myopathy and lactic acidosis. An important gene associated with Mitochondrial Myopathy with Lactic Acidosis is PNPLA8 (Patatin Like Phospholipase Domain Containing 8). Affiliated tissues include skeletal muscle, and related phenotypes are sensorineural hearing impairment and seizures

UniProtKB/Swiss-Prot : 75 Mitochondrial myopathy with lactic acidosis: An autosomal recessive disorder characterized by progressive muscle weakness, hypotonia, seizures, poor weight gain, lactic acidosis, and elevated serum pyruvate concentration. Some patients manifest growth failure and moderate neural deafness.

Description from OMIM: 251950

Related Diseases for Mitochondrial Myopathy with Lactic Acidosis

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

# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy 10.0
2 lactic acidosis 10.0
3 myopathy 10.0

Symptoms & Phenotypes for Mitochondrial Myopathy with Lactic Acidosis

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
dysmetria
dystonia
loss of fine motor skills
complex partial seizures

Laboratory Abnormalities:
increased serum lactate
increased serum pyruvate

Muscle Soft Tissue:
proximal muscle weakness
hypotonia
toe-walking
gower sign
loss of ambulation
more
Voice:
dysarthria

Metabolic Features:
lactic acidosis

Growth Weight:
thin habitus


Clinical features from OMIM:

251950

Human phenotypes related to Mitochondrial Myopathy with Lactic Acidosis:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 metabolic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001942
4 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
5 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
6 hyperalaninemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003348
7 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
8 mitochondrial myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003737
9 vaginal fistula 59 32 hallmark (90%) Very frequent (99-80%) HP:0004320
10 spasticity 32 HP:0001257
11 dysarthria 32 HP:0001260
12 hemiparesis 32 HP:0001269
13 generalized hypotonia 32 HP:0001290
14 dysmetria 32 HP:0001310
15 muscle weakness 32 HP:0001324
16 dystonia 32 HP:0001332
17 increased serum lactate 32 HP:0002151
18 focal seizures with impairment of consciousness or awareness 32 HP:0002384
19 episodic vomiting 32 HP:0002572
20 lactic acidosis 32 HP:0003128
21 gowers sign 32 HP:0003391
22 increased serum pyruvate 32 HP:0003542
23 moderate sensorineural hearing impairment 32 HP:0008504
24 postnatal growth retardation 32 HP:0008897
25 toe walking 32 HP:0040083

Drugs & Therapeutics for Mitochondrial Myopathy with Lactic Acidosis

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

Genetic Tests for Mitochondrial Myopathy with Lactic Acidosis

Genetic tests related to Mitochondrial Myopathy with Lactic Acidosis:

# Genetic test Affiliating Genes
1 Mitochondrial Myopathy with Lactic Acidosis 29 PNPLA8

Anatomical Context for Mitochondrial Myopathy with Lactic Acidosis

MalaCards organs/tissues related to Mitochondrial Myopathy with Lactic Acidosis:

41
Skeletal Muscle

Publications for Mitochondrial Myopathy with Lactic Acidosis

Articles related to Mitochondrial Myopathy with Lactic Acidosis:

# Title Authors Year
1
Continuous venovenous hemodiafiltration for life-threatening mitochondrial myopathy with lactic acidosis and rhabdomyolysis. ( 17722368 )
2007

Variations for Mitochondrial Myopathy with Lactic Acidosis

ClinVar genetic disease variations for Mitochondrial Myopathy with Lactic Acidosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PNPLA8 NM_001256011.2(PNPLA8): c.334_337delAATT (p.Asn112Hisfs) deletion Pathogenic rs786205882 GRCh37 Chromosome 7, 108155299: 108155302
2 PNPLA8 NM_001256011.2(PNPLA8): c.334_337delAATT (p.Asn112Hisfs) deletion Pathogenic rs786205882 GRCh38 Chromosome 7, 108514855: 108514858
3 PNPLA8 NM_015723.4(PNPLA8): c.2275_2276delCT (p.Leu759Alafs) deletion Uncertain significance rs774184465 GRCh37 Chromosome 7, 108112918: 108112919
4 PNPLA8 NM_015723.4(PNPLA8): c.2275_2276delCT (p.Leu759Alafs) deletion Uncertain significance rs774184465 GRCh38 Chromosome 7, 108472474: 108472475

Expression for Mitochondrial Myopathy with Lactic Acidosis

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

Pathways for Mitochondrial Myopathy with Lactic Acidosis

GO Terms for Mitochondrial Myopathy with Lactic Acidosis

Sources for Mitochondrial Myopathy with Lactic Acidosis

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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