MCID: MTC020
MIFTS: 46

Mitochondrial Complex Ii Deficiency 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 49 10 11 45 22 67 24 65
Mitochondrial Respiratory Chain Complex Ii Deficiency 49 45 22
Succinate Coq Reductase Deficiency 45 22 67
Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency 10 51
Complex 2 Mitochondrial Respiratory Chain Deficiency 45 67
Isolated Succinate-Coenzyme Q Reductase Deficiency 10 51
Isolated Succinate-Ubiquinone Reductase Deficiency 10 51
 
Isolated Succinate-Coq Reductase Deficiency 10 51
Complex Ii Mitochondrial Respiratory Chain Deficiency 67
Sdh-Defective Infantile Leukoencephalopathy 67
Succinate-Coenzyme Q Reductase Deficiency 65
Succinate Dehydrogenase Deficiency 45
Mt-C2d 67

Characteristics:

Orphanet epidemiological data:

51
isolated mitochondrial respiratory chain complex ii deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

HPO:

61
mitochondrial complex ii deficiency:
Onset and clinical course: phenotypic variability, infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 252011
Disease Ontology10 DOID:0060537
ICD1027 G71.3
Orphanet51 3208
ICD10 via Orphanet28 G71.3
MedGen34 C1855008
UMLS65 C1855008, C0342777

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 mitochondrial respiratory chain complex ii deficiency, is related to leigh syndrome and mitochondrial respiratory chain complex ii deficiency, sdha-related, and has symptoms including cognitive impairment, increased intramyocellular lipid droplets and abnormal mitochondria in muscle tissue. 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 Alzheimers disease. Affiliated tissues include brain, heart and kidney.

Disease Ontology:10 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 s caused by 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.

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.

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

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 49)
idRelated DiseaseScoreTop Affiliating Genes
1leigh syndrome31.3SDHA, SDHAF1, SDHB, SDHD
2mitochondrial respiratory chain complex ii deficiency, sdha-related12.8
3mitochondrial respiratory chain complex ii deficiency, sdhaf1-related12.8
4neuroblastoma10.1
5goiter10.1
6malignant ovarian cyst10.1
7ovarian cyst10.1
8endotheliitis10.1
9congestive heart failure10.0
10leukemia10.0
11myeloid leukemia10.0
12cataract hutterite type9.9SDHB, SDHD
13cowden syndrome 29.8SDHA, SDHB
14gallbladder adenoma9.8SDHB, SDHD
15paragangliomas 59.8SDHA, SDHB
16cataract 4, multiple types9.8SDHB, SDHD
17albinism, oculocutaneous, type iv9.8SDHA, SDHB
18acute salpingo-oophoritis9.8SDHA, SDHAF1, SDHD
19paragangliomas 49.8SDHA, SDHB
20senile entropion9.8SDHA, SDHAF1, SDHD
21alcoholic cardiomyopathy9.7SDHA, SDHAF1, SDHD
22epidermal appendage tumor9.7SDHB, SDHD
23male reproductive organ cancer9.7SDHA, SDHB
24multiple endocrine neoplasia iib9.7SDHB, SDHD
25immunodeficiency, common variable, 59.7SDHB, SDHD
26myopathy with deficiency of iron-sulfur cluster assembly enzyme9.7SDHC, SDHD
27peptic ulcer disease9.6SDHB, SDHD
28familial stomach cancer9.6SDHB, SDHC, SDHD
29mononeuritis of upper limb and mononeuritis multiplex9.6SDHB, SDHC, SDHD
30retroperitoneal neuroblastoma9.6SDHB, SDHC, SDHD
31carcinoid tumors, intestinal9.6SDHB, SDHC, SDHD
32adenomyoma9.6SDHB, SDHC, SDHD
33sporadic pheochromocytoma/secreting paraganglioma9.6SDHB, SDHC, SDHD
34neurofibromatosis, familial spinal9.6SDHB, SDHC, SDHD
35von hippel-lindau syndrome9.6SDHB, SDHC, SDHD
36cerebellar liponeurocytoma9.6SDHB, SDHC, SDHD
37steroid inherited metabolic disorder9.6SDHB, SDHC, SDHD
38spastic ataxia 19.5SDHB, SDHC, SDHD
39decubitus ulcer9.5SDHB, SDHC, SDHD
40neuroaxonal dystrophy renal tubular acidosis9.2SDHA, SDHB, SDHC, SDHD
41paraganglioma and gastric stromal sarcoma9.2SDHA, SDHB, SDHC, SDHD
42oral hairy leukoplakia9.2SDHA, SDHB, SDHC, SDHD
43carnitine palmitoyltransferase i deficiency , muscle9.2SDHA, SDHB, SDHC, SDHD
44constant exophthalmos9.2SDHA, SDHB, SDHC, SDHD
45heritable pulmonary arterial hypertension9.2SDHA, SDHB, SDHC, SDHD
46non-syndromic x-linked intellectual disability9.2SDHA, SDHB, SDHC, SDHD
47gastrointestinal stromal tumor9.2SDHA, SDHB, SDHC, SDHD
48pheochromocytoma9.2SDHA, SDHB, SDHC, SDHD
49glycogen storage disease ib9.0SDHA, 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 30)
id Description Frequency HPO Source Accession
1 cognitive impairment HP:0100543
2 increased intramyocellular lipid droplets HP:0012240
3 abnormal mitochondria in muscle tissue HP:0008316
4 decreased activity of mitochondrial complex ii HP:0008314
5 progressive leukoencephalopathy HP:0006980
6 stress/infection-induced lactic acidosis HP:0004897
7 short stature HP:0004322
8 exercise intolerance HP:0003546
9 babinski sign HP:0003487
10 ragged-red muscle fibers HP:0003200
11 developmental regression HP:0002376
12 leukoencephalopathy HP:0002352
13 increased serum lactate HP:0002151
14 dilated cardiomyopathy HP:0001644
15 hypertrophic cardiomyopathy HP:0001639
16 flexion contracture HP:0001371
17 hyperreflexia HP:0001347
18 myoclonus HP:0001336
19 dystonia HP:0001332
20 muscle weakness HP:0001324
21 neonatal hypotonia HP:0001319
22 spasticity HP:0001257
23 ataxia HP:0001251
24 seizures HP:0001250
25 optic atrophy HP:0000648
26 nystagmus HP:0000639
27 ophthalmoplegia HP:0000602
28 pigmentary retinopathy HP:0000580
29 ptosis HP:0000508
30 visual impairment HP:0000505

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 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1VitaminsPhase 33857
2Trace ElementsPhase 33900
3UbiquinonePhase 392
4MicronutrientsPhase 33901
5
Coenzyme Q10NutraceuticalPhase 3104303-98-05281915
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
6
EverolimusapprovedPhase 11797159351-69-66442177
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
Afinitor Disperz
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
VOTUBIA
Zortress
everolimus
7
Sirolimusapproved, investigationalPhase 1179753123-88-95284616, 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
8
PaclitaxelapprovedPhase 1262133069-62-436314
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
nchembio.188-comp1
nchembio.2007.34-comp9
nchembio.215-comp9
nchembio853-comp6
paclitaxel
weekly paclitaxel
9
Docetaxelapproved, investigational, Approved May 1996Phase 11844114977-28-5148124, 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
Docefrez
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
10Albumin-Bound PaclitaxelPhase 12621
11Immunosuppressive AgentsPhase 110422
12Immunologic FactorsPhase 118483
13glutamineNutraceuticalPhase 1144

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

Anatomical Context for Mitochondrial Complex Ii Deficiency

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MalaCards organs/tissues related to Mitochondrial Complex Ii Deficiency:

33
Brain, Heart, Kidney, Liver

Animal Models for Mitochondrial Complex Ii Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Mitochondrial Complex Ii Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Mitochondrial Complex Ii Deficiency

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Articles related to Mitochondrial Complex Ii Deficiency:

idTitleAuthorsYear
1
Post-tsunami primary Scedosporium apiospermum osteomyelitis of the knee in an immunocompetent patient. (23523561)
2013
2
Endometrial stromal sarcoma with intracaval extension at initial presentation. (23967567)
2013
3
Abdominal pain in Henoch-SchAPnlein purpura and its association with superior mesenteric artery syndrome. (22507166)
2012
4
Identification of two novel isoforms of the ZNF162 gene: a growing family of signal transduction and activator of RNA proteins. (9192847)
1997
5
Social factors in the incidence of spinal bifida and anencephaly. (4916232)
1970

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
4SDHDp.Glu69LysVAR_074105
5SDHDp.Asp92GlyVAR_074106

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_004168.3(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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GO Terms for genes affiliated with Mitochondrial Complex Ii Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:00061059.1SDHA, SDHB

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:00166279.8SDHA, SDHC
2succinate dehydrogenase (ubiquinone) activityGO:00081779.6SDHA, SDHB
3oxidoreductase activityGO:00164919.1SDHA, SDHB
4electron carrier activityGO:00090558.9SDHB, 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