MCID: MTC020
MIFTS: 45

Mitochondrial Complex Ii Deficiency malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Mitochondrial Complex Ii Deficiency

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Aliases & Descriptions for Mitochondrial Complex Ii Deficiency:

Name: Mitochondrial Complex Ii Deficiency 49 11 45 22 24 65 67
Complex 2 Mitochondrial Respiratory Chain Deficiency 45 22 67
Succinate Coq Reductase Deficiency 45 22 67
Mitochondrial Respiratory Chain Complex Ii Deficiency 49 45
 
Complex Ii Mitochondrial Respiratory Chain Deficiency 67
Sdh-Defective Infantile Leukoencephalopathy 67
Succinate Dehydrogenase Deficiency 45
Mt-C2d 67


Classifications:



External Ids:

OMIM49 252011
MedGen34 C1855008
MeSH36 D017237

Summaries for Mitochondrial Complex Ii Deficiency

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NIH Rare Diseases:45 Complex ii deficiency is a mitochondrial disease. mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. in mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. the signs and symptoms of mitochondrial complex ii deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. complex ii deficiency can be caused by mutations in the sdha, sdhb, sdhd, or sdhaf1 genes. in many cases the underlying gene mutations cannot be identified. complex ii deficiency is inherited in an autosomal recessive fashion. complex ii deficiency gene mutation carriers may be at an increased risk for certain cancers. last updated: 4/15/2015

MalaCards based summary: Mitochondrial Complex Ii Deficiency, also known as complex 2 mitochondrial respiratory chain deficiency, is related to leigh syndrome and gastrointestinal stromal tumor, and has symptoms including autosomal recessive inheritance, visual impairment and ptosis. An important gene associated with Mitochondrial Complex Ii Deficiency is SDHAF1 (Succinate Dehydrogenase Complex Assembly Factor 1), and among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Carbon metabolism. Affiliated tissues include liver, kidney and heart.

OMIM:49 Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients... (252011) more...

UniProtKB/Swiss-Prot:67 Mitochondrial complex II deficiency: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome.

Related Diseases for Mitochondrial Complex Ii Deficiency

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Diseases related to Mitochondrial Complex Ii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1leigh syndrome29.7SDHA, SDHAF1, SDHB
2gastrointestinal stromal tumor29.7SDHA, SDHB, SDHC, SDHD
3pheochromocytoma29.5SDHA, SDHB, SDHC, SDHD
4mitochondrial respiratory chain complex ii deficiency, sdha-related10.6
5mitochondrial respiratory chain complex ii deficiency, sdhaf1-related10.6
6isolated succinate-coq reductase deficiency10.4
7myopathy10.3
8paraganglioma10.2
9leukodystrophy10.2
10encephalomyopathy10.2
11cardiomyopathy10.2
12pediatric epithelioid sarcoma10.0SDHA, SDHAF1
13senile entropion10.0SDHA, SDHAF1
14cowden syndrome 29.9SDHA, SDHB
15cardiomyopathy, dilated, 1gg9.9SDHA, SDHB
16paragangliomas 59.9SDHA, SDHB
17paragangliomas 49.9SDHA, SDHB
18heart conduction disease9.9SDHB, SDHC
19cataract hutterite type9.9SDHB, SDHD
20seminoma9.9SDHA, SDHB
21anus leiomyoma9.9SDHB, SDHD
22infant gynecomastia9.8SDHA, SDHAF1
23glossitis9.8SDHB, SDHD
24multiple endocrine neoplasia 19.8SDHB, SDHD
25myopathy with deficiency of iron-sulfur cluster assembly enzyme9.8SDHB, SDHC
26familial streblodactyly9.7SDHB, SDHC, SDHD
27paragangliomas 1, with or without deafness9.7SDHB, SDHC, SDHD
28cervical neuroblastoma9.7SDHB, SDHC, SDHD
29chondromalacia9.7SDHB, SDHC, SDHD
30synostosis - microcephaly - scoliosis9.7SDHB, SDHC, SDHD
31neurofibromatosis, familial spinal9.7SDHB, SDHC, SDHD
32progressive relapsing multiple sclerosis9.7SDHB, SDHC, SDHD
33lymphadenitis9.7SDHB, SDHC, SDHD
34multiple endocrine neoplasia iia9.7SDHB, SDHC, SDHD
35von hippel-lindau syndrome9.7SDHB, SDHC, SDHD
36deep leiomyoma9.7SDHB, SDHC, SDHD
37ovarian endometrioid cystadenofibroma9.6SDHB, SDHC, SDHD
38rothmund-thomson syndrome type 29.5SDHA, SDHAF1, SDHB, SDHD
39neuroaxonal dystrophy renal tubular acidosis9.5SDHA, SDHB, SDHC, SDHD
40verruciform xanthoma of skin9.5SDHA, SDHB, SDHC, SDHD
41paraganglioma and gastric stromal sarcoma9.5SDHA, SDHB, SDHC, SDHD
42lung abscess9.5SDHA, SDHB, SDHC, SDHD
43carnitine palmitoyltransferase i deficiency , muscle9.5SDHA, SDHB, SDHC, SDHD
44heritable pulmonary arterial hypertension9.5SDHA, SDHB, SDHC, SDHD
45primary progressive multiple sclerosis9.5SDHA, SDHB, SDHC, SDHD
46endocrine organ benign neoplasm9.5SDHA, SDHB, SDHC, SDHD
47gastrointestinal system disease9.5SDHA, SDHB, SDHC, SDHD
48mitochondrial complex ii deficiency9.3SDHA, SDHAF1, SDHB, SDHC, SDHD

Graphical network of the top 20 diseases related to Mitochondrial Complex Ii Deficiency:



Diseases related to mitochondrial complex ii deficiency

Symptoms for Mitochondrial Complex Ii Deficiency

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Symptoms by clinical synopsis from OMIM:

252011

Clinical features from OMIM:

252011

HPO human phenotypes related to Mitochondrial Complex Ii Deficiency:

(show all 33)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 visual impairment HP:0000505
3 ptosis HP:0000508
4 pigmentary retinopathy HP:0000580
5 ophthalmoplegia HP:0000602
6 nystagmus HP:0000639
7 optic atrophy HP:0000648
8 seizures HP:0001250
9 ataxia HP:0001251
10 spasticity HP:0001257
11 neonatal hypotonia HP:0001319
12 muscle weakness HP:0001324
13 dystonia HP:0001332
14 myoclonus HP:0001336
15 hyperreflexia HP:0001347
16 flexion contracture HP:0001371
17 hypertrophic cardiomyopathy HP:0001639
18 dilated cardiomyopathy HP:0001644
19 increased serum lactate HP:0002151
20 leukoencephalopathy HP:0002352
21 developmental regression HP:0002376
22 ragged-red muscle fibers HP:0003200
23 babinski sign HP:0003487
24 exercise intolerance HP:0003546
25 infantile onset HP:0003593
26 phenotypic variability HP:0003812
27 short stature HP:0004322
28 stress/infection-induced lactic acidosis HP:0004897
29 progressive leukoencephalopathy HP:0006980
30 decreased activity of mitochondrial complex ii HP:0008314
31 abnormal mitochondria in muscle tissue HP:0008316
32 increased intramyocellular lipid droplets HP:0012240
33 cognitive impairment HP:0100543

Drugs & Therapeutics for Mitochondrial Complex Ii Deficiency

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Drugs for Mitochondrial Complex Ii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1UbiquinonePhase 390
2
Coenzyme Q10NutraceuticalPhase 3101303-98-05281915
Synonyms:
(all-E)-2,3-dimethoxy-5-methyl-6-(3,7,11,15,19,23,27,31-octamethyl-2,6,10,14,18,22,26,30-dotriacontaoctaenyl)-2,5-Cyclohexadiene-1,4-dione
(all-E)-2-(3,7,11,15,19,23,27,31,35,39-decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione
2-(3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-p-Benzoquinone
2-[(2E,6E,10E,14E,18E,22E,26E,30E,34E)-3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl]-5,6-dimethoxy-3-methyl- 2,5-Cyclohexadiene-1,4-dione
4-Ethyl-5-fluoropyrimidine
Aqua Q 10L10
Aqua Q10
Bio-Quinon
Bio-Quinone Q10
CoQ10
Coenzyme Q10
Ensorb
Kaneka Q10
Kudesan
 
Li-Q-Sorb
Liquid-Q
Neuquinon
Neuquinone
PureSorb Q 40
Q 10AA
Q-Gel
Q-Gel 100
Ubidecarenone
Ubiquinone 10
Ubiquinone 50
Ubiquinone Q10
Ubiquinone-10
Unbiquinone
Unispheres Q 10
3glutamineNutraceuticalPhase 1137

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase III Trial of Coenzyme Q10 in Mitochondrial DiseaseCompletedNCT00432744Phase 3
2Study of the Glutaminase Inhibitor CB-839 in Solid TumorsRecruitingNCT02071862Phase 1
3North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940

Search NIH Clinical Center for Mitochondrial Complex Ii Deficiency

Genetic Tests for Mitochondrial Complex Ii Deficiency

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Genetic tests related to Mitochondrial Complex Ii Deficiency:

id Genetic test Affiliating Genes
1 Mitochondrial Respiratory Chain Complex Ii Deficiency22
2 Mitochondrial Complex Ii Deficiency24

Anatomical Context for Mitochondrial Complex Ii Deficiency

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MalaCards organs/tissues related to Mitochondrial Complex Ii Deficiency:

33
Liver, Kidney, Heart, Brain

Animal Models for Mitochondrial Complex Ii Deficiency or affiliated genes

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Publications for Mitochondrial Complex Ii Deficiency

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Articles related to Mitochondrial Complex Ii Deficiency:

idTitleAuthorsYear
1
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. (26008905)
2015
2
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. (24367056)
2013
3
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. (22972948)
2012
4
Anesthetic management for a child with mitochondrial complex II deficiency. (18613941)
2008
5
The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. (16288654)
2005

Variations for Mitochondrial Complex Ii Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex Ii Deficiency:

67
id Symbol AA change Variation ID SNP ID
1SDHAF1p.Arg55ProVAR_058097
2SDHAF1p.Gly57ArgVAR_058098
3SDHAp.Gly555GluVAR_016879

Clinvar genetic disease variations for Mitochondrial Complex Ii Deficiency:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1SDHDNM_003002.3(SDHD): c.205G> A (p.Glu69Lys)single nucleotide variantPathogenicrs202198133GRCh38Chr 11, 112088902: 112088902
2SDHDNM_003002.3(SDHD): c.479G> T (p.Ter160Leu)single nucleotide variantPathogenicrs201372601GRCh37Chr 11, 111965693: 111965693
3SDHANM_004168.2(SDHA): c.328G> C (p.Ala110Pro)single nucleotide variantLikely pathogenicrs786205209GRCh38Chr 5, 225434: 225434
4SDHDSDHD, ASP92GLYundetermined variantPathogenic
5SDHANM_004168.3(SDHA): c.1523C> T (p.Thr508Ile)single nucleotide variantPathogenicrs151266052GRCh37Chr 5, 240563: 240563
6SDHANM_004168.3(SDHA): c.1526C> T (p.Ser509Leu)single nucleotide variantPathogenicrs397514541GRCh37Chr 5, 240566: 240566
7SDHAF1NM_001042631.2(SDHAF1): c.169G> C (p.Gly57Arg)single nucleotide variantPathogenicrs137853192GRCh37Chr 19, 36486345: 36486345
8SDHAF1NM_001042631.2(SDHAF1): c.164G> C (p.Arg55Pro)single nucleotide variantPathogenicrs137853193GRCh37Chr 19, 36486340: 36486340
9SDHANM_004168.3(SDHA): c.1660C> T (p.Arg554Trp)single nucleotide variantPathogenicrs9809219GRCh37Chr 5, 251215: 251215
10SDHANM_004168.3(SDHA): c.1571C> T (p.Ala524Val)single nucleotide variantPathogenicrs137852767GRCh37Chr 5, 251126: 251126
11SDHANM_004168.3(SDHA): c.1A> C (p.Met1Leu)single nucleotide variantPathogenicrs1061517GRCh37Chr 5, 218471: 218471
12SDHANM_004168.3(SDHA): c.1664G> A (p.Gly555Glu)single nucleotide variantPathogenicrs137852768GRCh37Chr 5, 251453: 251453

Expression for genes affiliated with Mitochondrial Complex Ii Deficiency

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Search GEO for disease gene expression data for Mitochondrial Complex Ii Deficiency.

Pathways for genes affiliated with Mitochondrial Complex Ii Deficiency

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Pathways related to Mitochondrial Complex Ii Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.0SDHA, SDHB, SDHC, SDHD
2
Show member pathways
8.0SDHA, SDHB, SDHC, SDHD
3
Show member pathways
8.0SDHA, SDHB, SDHC, SDHD
4
Show member pathways
8.0SDHA, SDHB, SDHC, SDHD
5
Show member pathways
8.0SDHA, SDHB, SDHC, SDHD

GO Terms for genes affiliated with Mitochondrial Complex Ii Deficiency

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Cellular components related to Mitochondrial Complex Ii Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1respiratory chain complex IIGO:00452739.7SDHB, SDHC
2mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:00057498.6SDHA, SDHB, SDHC, SDHD
3mitochondrial inner membraneGO:00057438.0SDHA, SDHB, SDHC, SDHD
4mitochondrionGO:00057397.5SDHA, SDHAF1, SDHB, SDHC, SDHD

Biological processes related to Mitochondrial Complex Ii Deficiency according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:00061059.7SDHA, SDHB
2aerobic respirationGO:00090609.7SDHB, SDHC
3oxidation-reduction processGO:00551148.6SDHA, SDHB, SDHC
4tricarboxylic acid cycleGO:00060998.6SDHA, SDHB, SDHC, SDHD
5respiratory electron transport chainGO:00229048.4SDHA, SDHB, SDHC, SDHD
6cellular metabolic processGO:00442378.4SDHA, SDHB, SDHC, SDHD
7small molecule metabolic processGO:00442817.9SDHA, SDHB, SDHC, SDHD

Molecular functions related to Mitochondrial Complex Ii Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.9SDHA, SDHC
2ubiquinone bindingGO:00480399.5SDHB, SDHD
3succinate dehydrogenase activityGO:00001049.3SDHA, SDHC, SDHD
4succinate dehydrogenase (ubiquinone) activityGO:00081779.1SDHA, SDHB, SDHC
5heme bindingGO:00200379.0SDHC, SDHD
6electron carrier activityGO:00090558.5SDHB, SDHC, SDHD

Sources for Mitochondrial Complex Ii Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet