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

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Aliases & Descriptions for Mitochondrial Complex Ii Deficiency:

Name: Mitochondrial Complex Ii Deficiency 52 11 48 24 70 27 12 39 13 68
Mitochondrial Respiratory Chain Complex Ii Deficiency 52 48 24
Succinate Coq Reductase Deficiency 48 24 70
Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency 11 54
Complex 2 Mitochondrial Respiratory Chain Deficiency 48 70
Isolated Succinate-Coenzyme Q Reductase Deficiency 11 54
Isolated Succinate-Ubiquinone Reductase Deficiency 11 54
 
Isolated Succinate-Coq Reductase Deficiency 11 54
Complex Ii Mitochondrial Respiratory Chain Deficiency 70
Sdh-Defective Infantile Leukoencephalopathy 70
Succinate-Coenzyme Q Reductase Deficiency 68
Succinate Dehydrogenase Deficiency 48
Mt-C2d 70

Characteristics:

Orphanet epidemiological data:

54
isolated mitochondrial respiratory chain complex ii deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

HPO:

64
mitochondrial complex ii deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, phenotypic variability

Classifications:



External Ids:

OMIM52 252011
Disease Ontology11 DOID:0060537
ICD1030 G71.3
Orphanet54 ORPHA3208
ICD10 via Orphanet31 G71.3
MedGen37 C1855008

Summaries for Mitochondrial Complex Ii Deficiency

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NIH Rare Diseases:48 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, ataxia and muscle spasticity. 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, and related mouse phenotype Increased shRNA abundance (Z-score > 2).

Disease Ontology:11 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:52 Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients... (252011) more...

UniProtKB/Swiss-Prot:70 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 42)
idRelated DiseaseScoreTop Affiliating Genes
1pheochromocytoma28.8SDHA, SDHB, SDHC, SDHD
2mitochondrial respiratory chain complex ii deficiency, sdha-related12.3
3mitochondrial respiratory chain complex ii deficiency, sdhaf1-related12.3
4mitochondrial respiratory chain complex ii deficiency, sdhd-related12.3
5leigh syndrome11.2
6catastrophic antiphospholipid syndrome10.0SDHB, SDHD
7acrocapitofemoral dysplasia10.0SDHB, SDHD
8bone ameloblastoma10.0SDHB, SDHD
9glomangioma10.0SDHB, SDHD
10medullomyoblastoma10.0SDHA, SDHB
11central hypoventilation syndrome, congenital10.0SDHB, SDHD
12acute salpingitis10.0SDHA, SDHAF1, SDHD
13prolapse of female genital organ9.9SDHA, SDHAF1, SDHD
14seborrheic dermatitis9.9SDHB, SDHD
15lumbar spinal canal and spinal cord meningioma9.9SDHB, SDHD
16leukemia, acute promyelocytic, somatic9.8SDHB, SDHD
17aneurysm9.8SDHB, SDHC
18paraganglioma and gastric stromal sarcoma9.8SDHB, SDHC, SDHD
19glioma susceptibility 29.8SDHB, SDHC, SDHD
20serous surface papilloma9.7SDHB, SDHC, SDHD
21non-syndromic male infertility due to sperm motility disorder9.7SDHB, SDHC, SDHD
22neurofibromatosis-noonan syndrome9.7SDHB, SDHC, SDHD
23childhood teratocarcinoma of the testis9.7SDHB, SDHC, SDHD
24erythrocytosis, familial, 29.7SDHB, SDHC, SDHD
25benign shuddering attacks9.7SDHB, SDHC, SDHD
26bjornstad syndrome9.7SDHA, SDHAF1, SDHB, SDHD
27paraganglioma9.7
28leukodystrophy9.7
29encephalomyopathy9.7
30cardiomyopathy9.7
31intravenous leiomyomatosis9.6SDHAF2, SDHB, SDHC, SDHD
32endocervical adenocarcinoma9.6SDHAF2, SDHB, SDHC, SDHD
33amaurosis congenita, cone-rod type, with congenital hypertrichosis9.6SDHA, SDHB, SDHC, SDHD
34cowden syndrome 39.6SDHA, SDHB, SDHC, SDHD
35non-syndromic x-linked intellectual disability9.6SDHAF2, SDHB, SDHC, SDHD
36gastrointestinal stromal tumor9.5SDHA, SDHB, SDHC, SDHD
37neuropathy, congenital, with arthrogryposis multiplex9.4SDHA, SDHAF2, SDHB, SDHC, SDHD
38cardiac arrest9.4SDHA, SDHAF2, SDHB, SDHC, SDHD
39isolated methylmalonic acidemia9.4SDHA, SDHAF2, SDHB, SDHC, SDHD
40carotenemia9.4SDHA, SDHAF2, SDHB, SDHC, SDHD
41zollinger-ellison syndrome9.4SDHA, SDHAF2, SDHB, SDHC, SDHD
42glycogen storage disease ic9.2SDHA, 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

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Symptoms by clinical synopsis from OMIM:

252011

Clinical features from OMIM:

252011

Human phenotypes related to Mitochondrial Complex Ii Deficiency:

 64 (show all 31)
id Description HPO Frequency HPO Source Accession
1 visual impairment64 HP:0000505
2 ptosis64 HP:0000508
3 pigmentary retinopathy64 HP:0000580
4 ophthalmoplegia64 HP:0000602
5 nystagmus64 HP:0000639
6 optic atrophy64 HP:0000648
7 seizures64 HP:0001250
8 ataxia64 HP:0001251
9 spasticity64 HP:0001257
10 neonatal hypotonia64 HP:0001319
11 muscle weakness64 HP:0001324
12 dystonia64 HP:0001332
13 myoclonus64 HP:0001336
14 hyperreflexia64 HP:0001347
15 flexion contracture64 HP:0001371
16 hypertrophic cardiomyopathy64 HP:0001639
17 dilated cardiomyopathy64 HP:0001644
18 increased serum lactate64 HP:0002151
19 leukoencephalopathy64 HP:0002352
20 developmental regression64 HP:0002376
21 ragged-red muscle fibers64 HP:0003200
22 babinski sign64 HP:0003487
23 exercise intolerance64 HP:0003546
24 short stature64 HP:0004322
25 stress/infection-induced lactic acidosis64 HP:0004897
26 progressive leukoencephalopathy64 HP:0006980
27 decreased activity of mitochondrial complex ii64 HP:0008314
28 abnormal mitochondria in muscle tissue64 HP:0008316
29 increased intramyocellular lipid droplets64 HP:0012240
30 left ventricular noncompaction64 HP:0030682
31 cognitive impairment64 HP:0100543

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
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.2SDHC, SDHD

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):

(show all 22)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1VitaminsPhase 35282
2UbiquinonePhase 3145
3Trace ElementsPhase 36001
4MicronutrientsPhase 36001
5
Coenzyme Q10experimental, NutraceuticalPhase 3121303-98-05281915
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 Q-10
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
6
Azacitidineapproved, investigationalPhase 2529320-67-29444
Synonyms:
2-(beta-D-Ribofuranosyl)-4-amino-1,3,5-triazin-2-one
320-67-2
4-Amino-1-(beta-D-ribofuranosyl)-1,3,5-triazin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-1,3,5-traizin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-1,3,5-triazine-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-S-triazin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-s-triazin-2(1H)-one
4-Amino-1-beta-d-ribofuranosyl-1,3,5-triazin-2(1H)-one
4-amino-1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triaz
4-amino-1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triazin-2-one
4-amino-1-beta-L-ribofuranosyl-1,3,5-triazin-2(1H)-one
5 AZC
5 Azacytidine
5-AC
5-AZAC
5-AZCR
5-Azacytidine
5-aza-CR
5-azacitidine
5-azacytidine
5-azacytidine, Mylosar, Ladakamycin, Vidaza, Azacitidine
5AzaC
A 2385
A1287_SIGMA
A2385_SIGMA
AC1L1T1Y
Antibiotic U 18496
Azacitidina
Azacitidina [INN-Spanish]
Azacitidine
Azacitidine (JAN/USAN/INN)
Azacitidine [USAN:INN]
Azacitidinum
Azacitidinum [INN-Latin]
Azacytidine
BCBcMAP01_000083
BRN 0620461
BSPBio_003157
C11262
CCRIS 60
CHEBI:2038
CHEMBL1489
CID9444
CPD000857239
D001374
D03021
DB00928
DivK1c_000125
EINECS 206-280-2
EU-0100035
FT-0081170
HMS1921J22
HMS2092D08
HMS500G07
HSDB 6879
IDI1_000125
InChI=1/C8H12N4O5/c9-7-10-2-12(8(16)11-7)6-5(15)4(14)3(1-13)17-6/h2-6,13-15H,1H2,(H2,9,11,16)/t3-,4-,5-,6-/m1/s1
 
Jsp005945
KBio1_000125
KBio2_001742
KBio2_002556
KBio2_004310
KBio2_005124
KBio2_006878
KBio2_007692
KBio3_002657
KBio3_003034
KBioGR_001444
KBioGR_002556
KBioSS_001742
KBioSS_002565
LS-1189
Ladakamycin
Lopac0_000035
MLS001333121
MLS001333122
MLS002153249
MolMap_000062
Mylosar
NCGC00090851-01
NCGC00090851-02
NCGC00090851-03
NCGC00090851-04
NCGC00090851-08
NCGC00178234-01
NCI-C01569
NINDS_000125
NS-17
NSC 102816
NSC-102816
NSC102816
Pharmion Brand of Azacitidine
S1782_Selleck
SAM002264595
SMR000857239
SPBio_000892
SPECTRUM1502111
ST056940
Spectrum2_000786
Spectrum3_001509
Spectrum4_000922
Spectrum5_001166
Spectrum_001262
TL80073599
U 18496
U-18496
UNII-M801H13NRU
Vidaza
Vidaza (TN)
WR-183027
ZINC03861768
cMAP_000082
mylo sar
pyrimidine antimetabolite: inhibits nucleic acid replication
s-Triazin-2(1H)-one, 4-amino-1-beta-D-ribofuranosyl- (8CI)
wr 183027
7Antimetabolites, AntineoplasticPhase 27361
8AntimetabolitesPhase 212054
9
Miconazoleapproved, investigational, vet_approvedPhase 1370622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
10
Sirolimusapproved, investigationalPhase 1194053123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
11
Paclitaxelapproved, vet_approvedPhase 1286433069-62-436314
Synonyms:
(2AR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha r*,betas*),11alpha,12alpha,12balpha))-beta-(benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester
12-benzoate, 9-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
157069-30-2
33069-62-4
5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
7,11-Methano-1H-cyclodeca[3,4]benz[1,2-b]oxete, benzenepropanoic acid deriv.
7,11-Methano-5H-cyclodeca[3,4]benz[1,2-b]oxete,benzenepropanoic acid deriv.
7-Epi-Paclitaxel
7-Epi-Taxol
7-Epipaclitaxel
7-Epitaxol
7-epi-Paclitaxel
7-epi-Taxol
AB00513812
ABI 007
ABI-007
ABI007
AC-675
AC1L1IOG
AC1L1VJI
AC1L9AVF
ACon1_002231
ANX-513
Abraxane
Abraxane (TN)
Abraxane I.V. Suspension
Abraxis BioScience brand of albumin-bound paclitaxel
Ambotz33069-62-4
Anzatax
Asotax
BIDD:PXR0046
BMS 181339-01
BMS-181339
BMS-181339-01
BPBio1_000320
BRD-A23723433-001-01-2
BRD-A28746609-001-04-0
BRD-K62008436-001-03-1
BSPBio_000290
BSPBio_001152
BSPBio_002614
Bio-0076
Bio1_000362
Bio1_000851
Bio1_001340
Bio2_000416
Bio2_000896
Bristaxol
C07394
C466458
C47H51NO14
CCRIS 8143
CHEBI:103439
CHEBI:45863
CHEMBL100910
CHEMBL418410
CHEMBL48
CID36314
CID441276
CID4666
CID6713921
CID6915727
CPD-8718
Capxol
D00491
DB01229
DHP-107
DHP-208
DRG-0190
DTS-301
DivK1c_000441
EU-0101201
Ebetaxel
EmPAC
Epitaxol
Genaxol
Genetaxyl
Genexol
Genexol-PM
HMS1362J13
HMS1568O12
HMS1792J13
HMS1922K08
HMS1990J13
HMS2090D07
HMS2093K15
HMS501G03
HSDB 6839
I06-0014
IDI1_000441
IDI1_002171
Intaxel
KBio1_000441
KBio2_000492
KBio2_002016
KBio2_002509
KBio2_003060
KBio2_004584
KBio2_005077
KBio2_005628
KBio2_007152
KBio2_007645
KBio3_000903
KBio3_000904
KBio3_001834
KBio3_002987
KBioGR_000492
KBioGR_001893
 
KBioGR_002509
KBioSS_000492
KBioSS_002016
KBioSS_002517
LMPR0104390001
LS-31070
LipoPac
Lopac0_001201
MBT 0206
MEGxp0_001940
MLS000863266
MLS001077297
MLS002154218
MLS002172439
MLS002695976
MPI-5018
Micellar Paclitaxel
Mitotax
MolPort-001-742-627
MolPort-003-665-783
MolPort-003-932-365
NCGC00024995-02
NCGC00024995-03
NCGC00024995-04
NCGC00024995-05
NCGC00024995-06
NCGC00024995-07
NCGC00164367-01
NCGC00164367-02
NCGC00164367-03
NCI60_000601
NINDS_000441
NK 105
NP-010981
NSC 125973
NSC-125973
NSC125973
NSC358882
Nanotaxel
Neuro_000060
Nova-12005
OAS-PAC-100
OncoGel
Onxal
Onxol
Onxol, Taxol, Nov-Onxol, Paclitaxel
P1632
Paclical
Pacligel
Paclitaxel
Paclitaxel (JAN/USP)
Paclitaxel (JAN/USP/INN)
Paclitaxel (Taxol)
Paclitaxel [USAN:INN:BAN]
Paxceed
Paxene
Paxoral
Plaxicel
Praxel
Prestwick0_000155
Prestwick1_000155
Prestwick2_000155
Prestwick3_000155
Probes2_000350
QW 8184
S-8184 Paclitaxel Injectable Emulsion
S1150_Selleck
SDCCGMLS-0066823.P001
SDP-013
SMP1_000228
SMR000394086
SMR000857385
SPBio_000943
SPBio_002229
SPECTRUM1503908
ST50306996
Spectrum2_000872
Spectrum3_001057
Spectrum4_001197
Spectrum5_001491
Spectrum_001536
T 7402
T1912_SIGMA
T7191_SIGMA
T7402_SIGMA
TA1
TAXOL (TN)
TAXOL, 10-EPI,
TXL
TaxAlbin
Taxol
Taxol A
Taxol Konzentrat
Taxol.RTM. (Registered Trademark)
UNII-P88XT4IS4D
UPCMLD-DP108:001
UPCMLD-DP108:002
Vascular Wrap
Xorane
Yewtaxan
abi-007
albumin-bound paclitaxel
cMAP_000068
nab-paclitaxel
nchembio.188-comp1
nchembio.2007.34-comp9
nchembio.215-comp9
nchembio853-comp6
paclitaxel
weekly paclitaxel
12
EverolimusapprovedPhase 11940159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
13
Docetaxelapproved, investigational, Approved May 1996Phase 11967114977-28-5148124, 9877265
Synonyms:
(2aR,4S,4aS,6R,9S,11S,12S,12aR,12bS)-12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca[3,4]benz[1,2-b]oxet-9-yl (aR,bS)-b-[[(1,1-dimethylethoxy)carbonyl]amino]-a-hydroxybenzenepropanoate
(2alpha,5beta,7beta,10beta,13alpha)-4-(acetyloxy)-13-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7,10-trihydroxy-9-oxo-5,20-epoxytax-11-en-2-yl benzoate
01885_FLUKA
114977-28-5
4-(Acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
4-(acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
AC-383
AC1L3WHJ
ANX-514
BIND-014
C11231
CHEBI:4672
CHEMBL92
CID148124
D07866
DB01248
Docetaxel
Docetaxel (INN)
Docetaxel anhydrous
Docetaxel, Trihydrate
EmDOC
 
HMS2089K08
InChI=1/C43H53NO14/c1-22-26(55-37(51)32(48)30(24-15-11-9-12-16-24)44-38(52)58-39(3,4)5)20-43(53)35(56-36(50)25-17-13-10-14-18-25)33-41(8,34(49)31(47)29(22)40(43,6)7)27(46)19-28-42(33,21-54-28)57-23(2)45/h9-18,26-28,30-33,35,46-48,53H,19-21H2,1-8H3,(H,44,5
MolPort-003-847-005
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-Boc-10-deacetyl taxol
NSC-628503
PSMA-targeted docetaxel nanoparticle
RP-56976
SDP-014
TXL
Taxotere
Taxotere (TN)
Taxotere(R)
XRP-6976L
docetaxel
docetaxel 114977-28-5
nchembio.188-comp8
nchembio.2007.34-comp7
nchembio.573-comp11
nchembio853-comp8
14Immunosuppressive AgentsPhase 113086
15Antibiotics, AntitubercularPhase 17180
16Anti-Bacterial AgentsPhase 111226
17Albumin-Bound PaclitaxelPhase 12864
18Antifungal AgentsPhase 13696
19Anti-Infective AgentsPhase 122062
20Antineoplastic Agents, PhytogenicPhase 15602
21Antimitotic AgentsPhase 15657
22glutamineNutraceuticalPhase 1162

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase III Trial of Coenzyme Q10 in Mitochondrial DiseaseCompletedNCT00432744Phase 3
2A 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 CancerNot yet recruitingNCT03165721Phase 2
3Study of the Glutaminase Inhibitor CB-839 in Solid TumorsRecruitingNCT02071862Phase 1
4North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940

Search NIH Clinical Center for Mitochondrial Complex Ii Deficiency


Cochrane evidence based reviews: 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 Complex Ii Deficiency27
2 Mitochondrial Respiratory Chain Complex Ii Deficiency24

Anatomical Context for Mitochondrial Complex Ii Deficiency

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MalaCards organs/tissues related to Mitochondrial Complex Ii Deficiency:

36
Liver, Kidney, Heart, Brain

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:

70
id Symbol AA change Variation ID SNP ID
1SDHAF1p.Arg55ProVAR_058097rs137853193
2SDHAF1p.Gly57ArgVAR_058098rs137853192
3SDHAp.Gly555GluVAR_016879rs137852768
4SDHDp.Glu69LysVAR_074105rs202198133
5SDHDp.Asp92GlyVAR_074106rs786205436

Clinvar genetic disease variations for Mitochondrial Complex Ii Deficiency:

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1SDHANM_ 004168.3(SDHA): c.91C> T (p.Arg31Ter)SNVPathogenic/ Likely pathogenicrs142441643GRCh37Chr 5, 223624: 223624
2SDHDNM_ 003002.3(SDHD): c.205G> A (p.Glu69Lys)SNVPathogenic/ Likely pathogenicrs202198133GRCh38Chr 11, 112088902: 112088902
3SDHDNM_ 003002.3(SDHD): c.275A> G (p.Asp92Gly)SNVPathogenicrs786205436GRCh38Chr 11, 112088972: 112088972
4SDHANM_ 004168.3(SDHA): c.223C> T (p.Arg75Ter)SNVPathogenicrs781764920GRCh37Chr 5, 224547: 224547
5SDHANM_ 004168.3(SDHA): c.1663+1G> TSNVPathogenic/ Likely pathogenicrs766667009GRCh37Chr 5, 251219: 251219
6SDHANM_ 004168.3(SDHA): c.1054C> T (p.Arg352Ter)SNVPathogenicrs746165168GRCh38Chr 5, 233635: 233635
7SDHANM_ 004168.3(SDHA): c.1432_ 1432+1delGGdeletionLikely pathogenicrs878854627GRCh37Chr 5, 236714: 236715
8SDHANM_ 004168.3(SDHA): c.1432+1G> CSNVLikely pathogenicrs878854628GRCh37Chr 5, 236715: 236715
9SDHANM_ 004168.3(SDHA): c.1A> G (p.Met1Val)SNVLikely pathogenicrs1061517GRCh38Chr 5, 218356: 218356
10SDHANM_ 004168.3(SDHA): c.457-2_ 457delAGCdeletionLikely pathogenicrs878854632GRCh38Chr 5, 225881: 225883
11SDHANM_ 004168.3(SDHA): c.1534C> T (p.Arg512Ter)SNVPathogenic/ Likely pathogenicrs748089700GRCh37Chr 5, 240574: 240574
12SDHANM_ 004168.3(SDHA): c.1526C> T (p.Ser509Leu)SNVPathogenicrs397514541GRCh37Chr 5, 240566: 240566
13SDHANM_ 004168.3(SDHA): c.985C> T (p.Arg329Ter)SNVPathogenicrs771328239GRCh38Chr 5, 233566: 233566
14SDHANM_ 004168.3(SDHA): c.762_ 770+17del26deletionLikely pathogenicGRCh38Chr 5, 228325: 228350
15SDHANM_ 004168.3(SDHA): c.1615dupA (p.Ile539Asnfs)duplicationPathogenicGRCh38Chr 5, 251055: 251055
16SDHAF1NM_ 001042631.2(SDHAF1): c.169G> C (p.Gly57Arg)SNVPathogenicrs137853192GRCh37Chr 19, 36486345: 36486345
17SDHAF1NM_ 001042631.2(SDHAF1): c.164G> C (p.Arg55Pro)SNVPathogenicrs137853193GRCh37Chr 19, 36486340: 36486340
18SDHANM_ 004168.3(SDHA): c.1571C> T (p.Ala524Val)SNVPathogenicrs137852767GRCh37Chr 5, 251126: 251126
19SDHANM_ 004168.3(SDHA): c.1A> C (p.Met1Leu)SNVPathogenicrs1061517GRCh37Chr 5, 218471: 218471
20SDHANM_ 004168.3(SDHA): c.1664G> A (p.Gly555Glu)SNVPathogenicrs137852768GRCh37Chr 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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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:00452739.0SDHB, SDHC
2mitochondrial inner membraneGO:00057438.8SDHA, SDHB, SDHC, SDHD
3mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:00057498.8SDHA, SDHB, SDHC, SDHD
4mitochondrionGO:00057397.0SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex II assemblyGO:003455310.2SDHAF1, SDHAF2
2respiratory electron transport chainGO:00229049.8SDHA, SDHB
3succinate metabolic processGO:00061059.7SDHA, SDHB
4aerobic respirationGO:00090609.7SDHB, SDHC
5mitochondrial electron transport, succinate to ubiquinoneGO:00061219.7SDHA, SDHAF2, SDHD
6oxidation-reduction processGO:00551148.5SDHA, SDHB, SDHC, SDHD
7tricarboxylic acid cycleGO:00060997.5SDHA, SDHAF2, SDHB, SDHC, SDHD

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

idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:00200379.6SDHC, SDHD
2oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.4SDHA, SDHC
3ubiquinone bindingGO:00480399.4SDHB, SDHD
4succinate dehydrogenase (ubiquinone) activityGO:00081779.1SDHA, SDHB, SDHD
5succinate dehydrogenase activityGO:00001048.8SDHA, SDHC, SDHD
6electron carrier activityGO:00090558.6SDHA, SDHB, SDHC, SDHD

Sources for Mitochondrial Complex Ii Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet