MCID: ENC011
MIFTS: 42

Encephalomyopathy malady

Rare diseases, Neuronal diseases, Metabolic diseases categories

Summaries for Encephalomyopathy

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Wikipedia:63 Encephalopathy /?n?s?f??l?p??i/ means disorder or disease of the brain. In modern usage, encephalopathy... more...

MalaCards based summary: Encephalomyopathy, also known as mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, is related to mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes and mitochondrial disorders, and has symptoms including microcephaly, hearing impairment and visual impairment. An important gene associated with Encephalomyopathy is SUCLA2 (succinate-CoA ligase, ADP-forming, beta subunit), and among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and tRNA Aminoacylation. The compounds rotenone and oxygen have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and cortex.

Aliases & Classifications for Encephalomyopathy

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Sources:
41NIH Rare Diseases, 47Orphanet, 26ICD10 via Orphanet
See all sources

Encephalomyopathy, Aliases & Descriptions:

Name: Encephalomyopathy 41
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 41 47
Mtdna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 41 47
Mitochondrial Encephalomyopathy - Aminoacidopathy 41 47
 
Booth-Haworth-Dilling Syndrome 41 47
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria, Autosomal Recessive 41
Mitochondrial Encephalomyopathy Aminoacidopathy 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

47
mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria:
Inheritance: Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,late childhood


External Ids:

Orphanet47 1933
ICD10 via Orphanet26 G71.3

Related Diseases for Encephalomyopathy

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Diseases in the Encephalomyopathy family:

Fatal Infantile Encephalomyopathy

Diseases related to Encephalomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes31.3MT-ND6
2mitochondrial disorders29.8MT-TK, MT-ND6, MT-TL1
3mitochondrial encephalomyopathy11.1
4lactic acidosis10.8
5melas syndrome10.4
6cerebritis10.4
7severe x-linked mitochondrial encephalomyopathy10.3
8kearns-sayre syndrome10.3
9myopathy10.2
10fatal infantile encephalomyopathy10.2
11hypertrophic cardiomyopathy10.2
12ophthalmoplegia10.2
13mitochondrial neurogastrointestinal encephalopathy disease10.2
14myoclonus10.2
15fastkd2-related infantile mitochondrial encephalomyopathy10.2
16chronic progressive external ophthalmoplegia10.1TYMP
17hydrocephalus10.1
18choroiditis10.1
19hypoparathyroidism10.1
20hypogonadism10.1
21muscular dystrophy10.1
22pancreatitis10.1
23sleep apnea10.1
24aminoacidopathies10.1
25ataxia10.1
26mitochondrial complex i deficiency9.9
27fumarase deficiency9.9
28mitochondrial complex iv deficiency9.9
29pyruvate dehydrogenase lipoic acid synthetase deficiency9.9
30cystic fibrosis9.9
31retinoblastoma9.9
32mitochondrial complex ii deficiency9.9
33anorexia nervosa9.9
34cataract9.9
35cerebral hemorrhage9.9
36focal segmental glomerulosclerosis9.9
37pearson syndrome9.9
38fanconi syndrome9.9
39mutism9.9
40chronic inflammatory demyelinating polyradiculoneuropathy9.9
41multiple symmetrical lipomatosis9.9
42sensorineural hearing loss9.9
43superior mesenteric artery syndrome9.9
44amenorrhea9.9
45trigeminal neuralgia9.9
46multiple symmetric lipomatosis9.9
47atrioventricular block9.9
48chorioretinitis9.9
49dementia9.9
50diverticulitis9.9

Graphical network of the top 20 diseases related to Encephalomyopathy:



Diseases related to encephalomyopathy

Symptoms for Encephalomyopathy

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Symptoms:

 47 (show all 20)
  • microcephaly
  • mild visual loss/impaired visual acuity
  • abnormal erg/electroretinogram/electroretinography
  • abnormal vep/visual evoked potential
  • ptosis
  • central deafness/hearing loss
  • hirsutism/hypertrichosis/increased body hair
  • dilated cerebral ventricles without hydrocephaly
  • intracranial/cerebral calcifications
  • nerve conduction abnormality
  • ataxia/incoordination/trouble of the equilibrium
  • areflexia/hyporeflexia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/behavioural troubles
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • aminoacid metabolism anomalies/aminoaciduria
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • short stature/dwarfism/nanism

HPO human phenotypes related to Encephalomyopathy:

(show all 19)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 hearing impairment hallmark (90%) HP:0000365
3 visual impairment hallmark (90%) HP:0000505
4 ptosis hallmark (90%) HP:0000508
5 abnormal electroretinogram hallmark (90%) HP:0000512
6 abnormality of vision evoked potentials hallmark (90%) HP:0000649
7 behavioral abnormality hallmark (90%) HP:0000708
8 decreased nerve conduction velocity hallmark (90%) HP:0000762
9 hypertrichosis hallmark (90%) HP:0000998
10 seizures hallmark (90%) HP:0001250
11 reduced tendon reflexes hallmark (90%) HP:0001315
12 ventriculomegaly hallmark (90%) HP:0002119
13 incoordination hallmark (90%) HP:0002311
14 cerebral calcification hallmark (90%) HP:0002514
15 amyotrophy hallmark (90%) HP:0003202
16 aminoaciduria hallmark (90%) HP:0003355
17 short stature hallmark (90%) HP:0004322
18 decreased body weight hallmark (90%) HP:0004325
19 cognitive impairment hallmark (90%) HP:0100543

Drugs & Therapeutics for Encephalomyopathy

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Drug clinical trials:

Search ClinicalTrials for Encephalomyopathy

Search NIH Clinical Center for Encephalomyopathy

Genetic Tests for Encephalomyopathy

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Anatomical Context for Encephalomyopathy

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MalaCards organs/tissues related to Encephalomyopathy:

31
Brain, Skeletal muscle, Cortex, Heart, Liver, Eye, Smooth muscle, Skin, Pituitary, Bone, Spinal cord, Small intestine, Endothelial, Bone marrow

Animal Models for Encephalomyopathy or affiliated genes

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Publications for Encephalomyopathy

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Articles related to Encephalomyopathy:

(show top 50)    (show all 372)
idTitleAuthorsYear
1
Never too old for a change. ECG in a nonagenarian with apical hypertrophic cardiomyopathy, aneurysm, and encephalomyopathy. (25747108)
2015
2
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation. (25022940)
2014
3
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. (23993194)
2013
4
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. (23836383)
2013
5
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. (23493219)
2013
6
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. (24199812)
2013
7
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. (21933806)
2011
8
Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (21483760)
2011
9
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. (20362274)
2010
10
Multiple cranial nerve enhancement in mitochondrial neurogastrointestinal encephalomyopathy. (20351514)
2010
11
Absence of the interstitial cell of Cajal network in mitochondrial neurogastrointestinal encephalomyopathy. (19368660)
2009
12
Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy. (19589463)
2009
13
A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy. (19616983)
2009
14
Identification of novel mutations in five patients with mitochondrial encephalomyopathy. (18977334)
2009
15
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. (17301081)
2007
16
Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. (17437622)
2007
17
Thymidine phosphorylase gene mutation is not a primary cause of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (16679698)
2006
18
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy. (16774911)
2006
19
Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (17077575)
2006
20
Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. (17204916)
2006
21
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. (12825077)
2003
22
Anaesthesia for an adolescent with mitochondrial encephalomyopathy-lactic acidosis-stroke-like episodes syndrome. (12791122)
2003
23
Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy. (11913571)
2002
24
Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. (11047755)
2000
25
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. (10852545)
2000
26
Increased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS). (10233312)
1999
27
Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy. (9678517)
1998
28
Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9869067)
1998
29
Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. (9435428)
1998
30
Mitochondrial encephalomyopathy with 15915 mutation: clinical report. (9367299)
1997
31
Benign mitochondrial encephalomyopathy in a patient with complex I deficiency. (8739952)
1996
32
Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis. (16696023)
1995
33
Early-onset fatal encephalomyopathy associated with severe mtDNA depletion. (7556323)
1995
34
Superoxide dismutases of muscle in mitochondrial encephalomyopathies. (7565923)
1995
35
Home mechanical ventilation in mitochondrial encephalomyopathy syndrome. (7487448)
1995
36
Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy. (7496082)
1995
37
Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. (7783765)
1995
38
Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNA(LEU(UUR)) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). (7988784)
1994
39
Free radical, lipid peroxide and antioxidant in mitochondrial encephalomyopathy]. (7955720)
1994
40
An autopsy case of mitochondrial encephalomyopathy (MELAS) with special reference to extra-neuromuscular abnormalities. (1471529)
1992
41
Purpuric cutaneous manifestations in mitochondrial encephalomyopathy. (1939857)
1991
42
An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system. (1792871)
1991
43
HMPAO-SPECT imaging resembling Alzheimer-type dementia in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). (2213201)
1990
44
Mitochondrial encephalomyopathy with pilovacuolar inclusion or phenocopy with mitochondrial artefact? (2795106)
1989
45
Non-epileptic myoclonus and mitochondrial encephalomyopathy. (2619613)
1989
46
Hypokinesia and rigidity as clinical manifestations of mitochondrial encephalomyopathy: report of three cases. (2537772)
1989
47
Increased accumulation of N-isopropyl-p-(123I)-iodoamphetamine in two cases with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS). (2636890)
1989
48
Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). (2743782)
1989
49
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. (3736629)
1986
50
Mitochondrial encephalomyopathy: fluctuating symptoms and CT. (6493493)
1984

Variations for Encephalomyopathy

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Clinvar genetic disease variations for Encephalomyopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SUCLA2SUCLA2, 43-BP DEL AND 5-BP INSindelPathogenic
2SUCLA2NM_003850.2(SUCLA2): c.534+1G> Asingle nucleotide variantPathogenicrs113994161GRCh37Chr 13, 48562675: 48562675
3SUCLA2NM_003850.2(SUCLA2): c.352G> A (p.Gly118Arg)single nucleotide variantPathogenicrs121908537GRCh37Chr 13, 48563036: 48563036
4SUCLA2NM_003850.2(SUCLA2): c.850C> T (p.Arg284Cys)single nucleotide variantPathogenicrs121908538GRCh37Chr 13, 48528645: 48528645
5SUCLA2NM_003850.2(SUCLA2): c.751G> A (p.Asp251Asn)single nucleotide variantPathogenicrs397515462GRCh37Chr 13, 48542781: 48542781

Expression for genes affiliated with Encephalomyopathy

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Search GEO for disease gene expression data for Encephalomyopathy.

Pathways for genes affiliated with Encephalomyopathy

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Compounds for genes affiliated with Encephalomyopathy

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Sources:
43Novoseek, 24HMDB
See all sources

Compounds related to Encephalomyopathy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1rotenone439.5MT-ND6, AIFM1
2oxygen43 249.3COX6B1, MT-ND6, TYMP, AIFM1

GO Terms for genes affiliated with Encephalomyopathy

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Cellular components related to Encephalomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial intermembrane spaceGO:00057589.5COX6B1, AIFM1
2mitochondrial inner membraneGO:00057439.1COX6B1, COQ2, AIFM1
3mitochondrionGO:00057398.5COX6B1, COQ2, SUCLA2, AIFM1

Biological processes related to Encephalomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular metabolic processGO:00442379.6COX6B1, SUCLA2
2small molecule metabolic processGO:00442818.5COX6B1, COQ2, SUCLA2, TYMP

Products for genes affiliated with Encephalomyopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Encephalomyopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet