MCID: MTC144
MIFTS: 21

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

Categories: Rare diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form...

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria:

Name: Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 53
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria, Autosomal Recessive 53
Mtdna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 53
Mitochondrial Encephalomyopathy Aminoacidopathy 53
Mitochondrial Dna Depletion Syndrome-5 53
Booth-Haworth-Dilling Syndrome 53

Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form...

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1933DefinitionMitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.Visit the Orphanet disease page for more resources.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria, also known as mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive, is related to mitochondrial dna depletion syndrome and suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria. An important gene associated with Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria is SUCLA2 (Succinate-CoA Ligase ADP-Forming Beta Subunit), and among its related pathways/superpathways are Carbon metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. Affiliated tissues include skeletal muscle, and related phenotypes are ptosis and seizures

Related Diseases for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form...

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria:



Diseases related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form...

Human phenotypes related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 hallmark (90%) HP:0000508
2 seizures 32 hallmark (90%) HP:0001250
3 ataxia 32 hallmark (90%) HP:0001251
4 cerebral calcification 32 hallmark (90%) HP:0002514
5 behavioral abnormality 32 hallmark (90%) HP:0000708
6 global developmental delay 32 hallmark (90%) HP:0001263
7 microcephaly 32 hallmark (90%) HP:0000252
8 sensorineural hearing impairment 32 hallmark (90%) HP:0000407
9 visual impairment 32 hallmark (90%) HP:0000505
10 short stature 32 hallmark (90%) HP:0004322
11 abnormality of visual evoked potentials 32 hallmark (90%) HP:0000649
12 aminoaciduria 32 hallmark (90%) HP:0003355
13 skeletal muscle atrophy 32 hallmark (90%) HP:0003202
14 generalized hirsutism 32 hallmark (90%) HP:0002230
15 decreased nerve conduction velocity 32 hallmark (90%) HP:0000762
16 abnormal electroretinogram 32 hallmark (90%) HP:0000512
17 cachexia 32 hallmark (90%) HP:0004326
18 ventriculomegaly 32 hallmark (90%) HP:0002119
19 intellectual disability, progressive 32 hallmark (90%) HP:0006887
20 hyporeflexia 32 hallmark (90%) HP:0001265
21 delayed gross motor development 32 hallmark (90%) HP:0002194
22 methylmalonic aciduria 32 hallmark (90%) HP:0012120
23 elevated serum creatine kinase 32 hallmark (90%) HP:0003236

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form...

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

Genetic Tests for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form...

Anatomical Context for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form...

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria:

41
Skeletal Muscle

Publications for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form...

Articles related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria:

# Title Authors PMID Year
1
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. 6
17287286 2007
2
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 38
28358460 2017
3
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 38
20301762 2009

Variations for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form...

Expression for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form...

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria.

Pathways for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form...

GO Terms for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form...

Cellular components related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.62 SUCLG1 SUCLA2

Biological processes related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tricarboxylic acid cycle GO:0006099 9.16 SUCLG1 SUCLA2
2 succinate metabolic process GO:0006105 8.96 SUCLG1 SUCLA2
3 succinyl-CoA metabolic process GO:0006104 8.62 SUCLG1 SUCLA2

Molecular functions related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.16 SUCLG1 SUCLA2
2 ligase activity GO:0016874 8.96 SUCLG1 SUCLA2
3 succinate-CoA ligase (ADP-forming) activity GO:0004775 8.62 SUCLG1 SUCLA2

Sources for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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