MT-C2D
MCID: MTC020
MIFTS: 50

Mitochondrial Complex Ii Deficiency (MT-C2D) malady

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

Aliases & Classifications for Mitochondrial Complex Ii Deficiency

Aliases & Descriptions for Mitochondrial Complex Ii Deficiency:

Name: Mitochondrial Complex Ii Deficiency 54 12 50 24 66 29 13 42 14 69
Mitochondrial Respiratory Chain Complex Ii Deficiency 54 50 24
Succinate Coq Reductase Deficiency 50 24 66
Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency 12 56
Complex 2 Mitochondrial Respiratory Chain Deficiency 50 66
Isolated Succinate-Coenzyme Q Reductase Deficiency 12 56
Isolated Succinate-Ubiquinone Reductase Deficiency 12 56
Isolated Succinate-Coq Reductase Deficiency 12 56
Complex Ii Mitochondrial Respiratory Chain Deficiency 66
Sdh-Defective Infantile Leukoencephalopathy 66
Succinate-Coenzyme Q Reductase Deficiency 69
Succinate Dehydrogenase Deficiency 50
Mt-C2d 66

Characteristics:

Orphanet epidemiological data:

56
isolated succinate-coq reductase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

HPO:

32
mitochondrial complex ii deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability infantile onset


Classifications:



External Ids:

OMIM 54 252011
Disease Ontology 12 DOID:0060537
ICD10 33 G71.3
Orphanet 56 ORPHA3208
ICD10 via Orphanet 34 G71.3
MedGen 40 C1855008

Summaries for Mitochondrial Complex Ii Deficiency

NIH Rare Diseases : 50 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 mitochondrial respiratory chain complex ii deficiency, is related to pheochromocytoma and mitochondrial respiratory chain complex ii deficiency, sdha-related, and has symptoms including ataxia, seizures and myoclonus. An important gene associated with Mitochondrial Complex Ii Deficiency is SDHAF1 (Succinate Dehydrogenase Complex Assembly Factor 1), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Carbon metabolism. The drugs Micronutrients and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and kidney, and related phenotype is Increased shRNA abundance (Z-score > 2).

Disease Ontology : 12 A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has material basis in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.

OMIM : 54 Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients... (252011) more...

UniProtKB/Swiss-Prot : 66 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

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

(show all 42)
id Related Disease Score Top Affiliating Genes
1 pheochromocytoma 28.8 SDHA SDHB SDHC SDHD
2 mitochondrial respiratory chain complex ii deficiency, sdha-related 12.3
3 mitochondrial respiratory chain complex ii deficiency, sdhaf1-related 12.3
4 mitochondrial respiratory chain complex ii deficiency, sdhd-related 12.3
5 leigh syndrome 11.2
6 catastrophic antiphospholipid syndrome 10.0 SDHB SDHD
7 acrocapitofemoral dysplasia 10.0 SDHB SDHD
8 bone ameloblastoma 10.0 SDHB SDHD
9 glomangioma 10.0 SDHB SDHD
10 medullomyoblastoma 10.0 SDHA SDHB
11 central hypoventilation syndrome, congenital 10.0 SDHB SDHD
12 acute salpingitis 10.0 SDHA SDHAF1 SDHD
13 prolapse of female genital organ 9.9 SDHA SDHAF1 SDHD
14 seborrheic dermatitis 9.9 SDHB SDHD
15 lumbar spinal canal and spinal cord meningioma 9.9 SDHB SDHD
16 leukemia, acute promyelocytic, somatic 9.8 SDHB SDHD
17 aneurysm 9.8 SDHB SDHC
18 paraganglioma and gastric stromal sarcoma 9.8 SDHB SDHC SDHD
19 glioma susceptibility 2 9.8 SDHB SDHC SDHD
20 serous surface papilloma 9.7 SDHB SDHC SDHD
21 non-syndromic male infertility due to sperm motility disorder 9.7 SDHB SDHC SDHD
22 neurofibromatosis-noonan syndrome 9.7 SDHB SDHC SDHD
23 childhood teratocarcinoma of the testis 9.7 SDHB SDHC SDHD
24 erythrocytosis, familial, 2 9.7 SDHB SDHC SDHD
25 benign shuddering attacks 9.7 SDHB SDHC SDHD
26 bjornstad syndrome 9.7 SDHA SDHAF1 SDHB SDHD
27 paraganglioma 9.7
28 leukodystrophy 9.7
29 encephalomyopathy 9.7
30 cardiomyopathy 9.7
31 intravenous leiomyomatosis 9.6 SDHAF2 SDHB SDHC SDHD
32 endocervical adenocarcinoma 9.6 SDHAF2 SDHB SDHC SDHD
33 amaurosis congenita, cone-rod type, with congenital hypertrichosis 9.6 SDHA SDHB SDHC SDHD
34 cowden syndrome 3 9.6 SDHA SDHB SDHC SDHD
35 non-syndromic x-linked intellectual disability 9.6 SDHAF2 SDHB SDHC SDHD
36 gastrointestinal stromal tumor 9.5 SDHA SDHB SDHC SDHD
37 neuropathy, congenital, with arthrogryposis multiplex 9.4 SDHA SDHAF2 SDHB SDHC SDHD
38 cardiac arrest 9.4 SDHA SDHAF2 SDHB SDHC SDHD
39 isolated methylmalonic acidemia 9.4 SDHA SDHAF2 SDHB SDHC SDHD
40 carotenemia 9.4 SDHA SDHAF2 SDHB SDHC SDHD
41 zollinger-ellison syndrome 9.4 SDHA SDHAF2 SDHB SDHC SDHD
42 glycogen storage disease ic 9.2 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD

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



Diseases related to Mitochondrial Complex Ii Deficiency

Symptoms & Phenotypes for Mitochondrial Complex Ii Deficiency

Symptoms by clinical synopsis from OMIM:

252011

Clinical features from OMIM:

252011

Human phenotypes related to Mitochondrial Complex Ii Deficiency:

32 (show all 31)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 seizures 32 HP:0001250
3 myoclonus 32 HP:0001336
4 muscle weakness 32 HP:0001324
5 dystonia 32 HP:0001332
6 ophthalmoplegia 32 HP:0000602
7 ptosis 32 HP:0000508
8 nystagmus 32 HP:0000639
9 spasticity 32 HP:0001257
10 hyperreflexia 32 HP:0001347
11 developmental regression 32 HP:0002376
12 visual impairment 32 HP:0000505
13 optic atrophy 32 HP:0000648
14 neonatal hypotonia 32 HP:0001319
15 short stature 32 HP:0004322
16 flexion contracture 32 HP:0001371
17 cognitive impairment 32 HP:0100543
18 hypertrophic cardiomyopathy 32 HP:0001639
19 babinski sign 32 HP:0003487
20 increased serum lactate 32 HP:0002151
21 ragged-red muscle fibers 32 HP:0003200
22 increased intramyocellular lipid droplets 32 HP:0012240
23 dilated cardiomyopathy 32 HP:0001644
24 exercise intolerance 32 HP:0003546
25 pigmentary retinopathy 32 HP:0000580
26 leukoencephalopathy 32 HP:0002352
27 abnormal mitochondria in muscle tissue 32 HP:0008316
28 stress/infection-induced lactic acidosis 32 HP:0004897
29 progressive leukoencephalopathy 32 HP:0006980
30 decreased activity of mitochondrial complex ii 32 HP:0008314
31 left ventricular noncompaction 32 HP:0030682

UMLS symptoms related to Mitochondrial Complex Ii Deficiency:


ataxia, muscle spasticity, myoclonus, ophthalmoplegia, seizures, muscle weakness

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.17 SDHC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.17 SDHC SDHD
3 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.17 SDHC
4 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.17 SDHC
5 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.17 SDHC SDHD

Drugs & Therapeutics for Mitochondrial Complex Ii Deficiency

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

(show all 22)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Micronutrients Phase 3
2 Trace Elements Phase 3
3 Ubiquinone Phase 3
4 Vitamins Phase 3
5
Coenzyme Q10 Experimental, Nutraceutical Phase 3 303-98-0 5281915
6
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
7 Antimetabolites Phase 2
8 Antimetabolites, Antineoplastic Phase 2
9
Everolimus Approved Phase 1 159351-69-6 6442177
10
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
11
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
12
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
13
Docetaxel Approved May 1996, Investigational Phase 1 114977-28-5 148124 9877265
14 Albumin-Bound Paclitaxel Phase 1
15 Anti-Bacterial Agents Phase 1
16 Antibiotics, Antitubercular Phase 1
17 Antifungal Agents Phase 1
18 Anti-Infective Agents Phase 1
19 Antimitotic Agents Phase 1
20 Antineoplastic Agents, Phytogenic Phase 1
21 Immunosuppressive Agents Phase 1
22 glutamine Nutraceutical Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phase III Trial of Coenzyme Q10 in Mitochondrial Disease Completed NCT00432744 Phase 3
2 A Phase II Trial of the DNA Methyl Transferase Inhibitor, Guadecitabine (SGI-110), in Children and Adults With Wild Type GIST,Pheochromocytoma and Paraganglioma Associated With Succinate Dehydrogenase Deficiency and HLRCC-associated Kidney Cancer Not yet recruiting NCT03165721 Phase 2
3 Study of the Glutaminase Inhibitor CB-839 in Solid Tumors Recruiting NCT02071862 Phase 1
4 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

Search NIH Clinical Center for Mitochondrial Complex Ii Deficiency

Cochrane evidence based reviews: mitochondrial complex ii deficiency

Genetic Tests for Mitochondrial Complex Ii Deficiency

Genetic tests related to Mitochondrial Complex Ii Deficiency:

id Genetic test Affiliating Genes
1 Mitochondrial Complex Ii Deficiency 29
2 Mitochondrial Respiratory Chain Complex Ii Deficiency 24

Anatomical Context for Mitochondrial Complex Ii Deficiency

MalaCards organs/tissues related to Mitochondrial Complex Ii Deficiency:

39
Heart, Liver, Kidney, Brain

Publications for Mitochondrial Complex Ii Deficiency

Articles related to Mitochondrial Complex Ii Deficiency:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 SDHAF1 p.Arg55Pro VAR_058097 rs137853193
2 SDHAF1 p.Gly57Arg VAR_058098 rs137853192
3 SDHA p.Gly555Glu VAR_016879 rs137852768
4 SDHD p.Glu69Lys VAR_074105 rs202198133
5 SDHD p.Asp92Gly VAR_074106 rs786205436

ClinVar genetic disease variations for Mitochondrial Complex Ii Deficiency:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 SDHAF1 NM_001042631.2(SDHAF1): c.169G> C (p.Gly57Arg) single nucleotide variant Pathogenic rs137853192 GRCh37 Chromosome 19, 36486345: 36486345
2 SDHAF1 NM_001042631.2(SDHAF1): c.164G> C (p.Arg55Pro) single nucleotide variant Pathogenic rs137853193 GRCh37 Chromosome 19, 36486340: 36486340
3 SDHA NM_004168.3(SDHA): c.1571C> T (p.Ala524Val) single nucleotide variant Pathogenic rs137852767 GRCh37 Chromosome 5, 251126: 251126
4 SDHA NM_004168.3(SDHA): c.1A> C (p.Met1Leu) single nucleotide variant Pathogenic rs1061517 GRCh37 Chromosome 5, 218471: 218471
5 SDHA NM_004168.3(SDHA): c.1664G> A (p.Gly555Glu) single nucleotide variant Pathogenic rs137852768 GRCh37 Chromosome 5, 251453: 251453
6 SDHA NM_004168.3(SDHA): c.1526C> T (p.Ser509Leu) single nucleotide variant Pathogenic rs397514541 GRCh37 Chromosome 5, 240566: 240566
7 SDHA NM_004168.3(SDHA): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic/Likely pathogenic rs142441643 GRCh37 Chromosome 5, 223624: 223624
8 SDHD NM_003002.3(SDHD): c.205G> A (p.Glu69Lys) single nucleotide variant Pathogenic/Likely pathogenic rs202198133 GRCh38 Chromosome 11, 112088902: 112088902
9 SDHD NM_003002.3(SDHD): c.275A> G (p.Asp92Gly) single nucleotide variant Pathogenic rs786205436 GRCh38 Chromosome 11, 112088972: 112088972
10 SDHA NM_004168.3(SDHA): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs781764920 GRCh37 Chromosome 5, 224547: 224547
11 SDHA NM_004168.3(SDHA): c.1663+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs766667009 GRCh37 Chromosome 5, 251219: 251219
12 SDHA NM_004168.3(SDHA): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1061517 GRCh38 Chromosome 5, 218356: 218356
13 SDHA NM_004168.3(SDHA): c.457-2_457delAGC deletion Likely pathogenic rs878854632 GRCh38 Chromosome 5, 225881: 225883
14 SDHA NM_004168.3(SDHA): c.1054C> T (p.Arg352Ter) single nucleotide variant Pathogenic rs746165168 GRCh38 Chromosome 5, 233635: 233635
15 SDHA NM_004168.3(SDHA): c.1432_1432+1delGG deletion Likely pathogenic rs878854627 GRCh37 Chromosome 5, 236714: 236715
16 SDHA NM_004168.3(SDHA): c.1432+1G> C single nucleotide variant Likely pathogenic rs878854628 GRCh37 Chromosome 5, 236715: 236715
17 SDHA NM_004168.3(SDHA): c.1534C> T (p.Arg512Ter) single nucleotide variant Pathogenic/Likely pathogenic rs748089700 GRCh37 Chromosome 5, 240574: 240574
18 SDHA NM_004168.3(SDHA): c.762_770+17del26 deletion Likely pathogenic GRCh38 Chromosome 5, 228325: 228350
19 SDHA NM_004168.3(SDHA): c.1615dupA (p.Ile539Asnfs) duplication Pathogenic GRCh38 Chromosome 5, 251055: 251055
20 SDHA NM_004168.3(SDHA): c.985C> T (p.Arg329Ter) single nucleotide variant Pathogenic rs771328239 GRCh38 Chromosome 5, 233566: 233566

Expression for Mitochondrial Complex Ii Deficiency

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

Pathways for Mitochondrial Complex Ii Deficiency

GO Terms for Mitochondrial Complex Ii Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.56 SDHA SDHB SDHC SDHD
2 mitochondrion GO:0005739 9.43 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD
3 respiratory chain complex II GO:0045273 9.16 SDHB SDHC
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHA SDHB SDHC SDHD

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

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.67 SDHA SDHB SDHC SDHD
2 aerobic respiration GO:0009060 9.4 SDHB SDHC
3 respiratory electron transport chain GO:0022904 9.32 SDHA SDHB
4 succinate metabolic process GO:0006105 9.26 SDHA SDHB
5 mitochondrial respiratory chain complex II assembly GO:0034553 9.16 SDHAF1 SDHAF2
6 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.13 SDHA SDHAF2 SDHD
7 tricarboxylic acid cycle GO:0006099 9.02 SDHA SDHAF2 SDHB SDHC SDHD

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

id Name GO ID Score Top Affiliating Genes
1 electron carrier activity GO:0009055 9.46 SDHA SDHB SDHC SDHD
2 heme binding GO:0020037 9.37 SDHC SDHD
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 SDHA SDHC
4 ubiquinone binding GO:0048039 9.26 SDHB SDHD
5 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.13 SDHA SDHB SDHD
6 succinate dehydrogenase activity GO:0000104 8.8 SDHA SDHC SDHD

Sources for Mitochondrial Complex Ii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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