MCID: MTC020
MIFTS: 50

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 50 11 46 23 13 68 25 12 37 66
Mitochondrial Respiratory Chain Complex Ii Deficiency 50 46 23
Succinate Coq Reductase Deficiency 46 23 68
Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency 11 52
Complex 2 Mitochondrial Respiratory Chain Deficiency 46 68
Isolated Succinate-Coenzyme Q Reductase Deficiency 11 52
Isolated Succinate-Ubiquinone Reductase Deficiency 11 52
 
Isolated Succinate-Coq Reductase Deficiency 11 52
Complex Ii Mitochondrial Respiratory Chain Deficiency 68
Sdh-Defective Infantile Leukoencephalopathy 68
Succinate-Coenzyme Q Reductase Deficiency 66
Succinate Dehydrogenase Deficiency 46
Mt-C2d 68

Characteristics:

Orphanet epidemiological data:

52
isolated mitochondrial respiratory chain complex ii deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

HPO:

62
mitochondrial complex ii deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, phenotypic variability


Classifications:



External Ids:

OMIM50 252011
Disease Ontology11 DOID:0060537
ICD1028 G71.3
Orphanet52 ORPHA3208
ICD10 via Orphanet29 G71.3
MedGen35 C1855008

Summaries for Mitochondrial Complex Ii Deficiency

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NIH Rare Diseases:46 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 paraganglioma, and has symptoms including ataxia, ataxia and muscle spasticity. An important gene associated with Mitochondrial Complex Ii Deficiency is SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A), and among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Alzheimer's disease. Affiliated tissues include liver, kidney and heart.

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 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:68 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:50 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 43)
idRelated DiseaseScoreTop Affiliating Genes
1leigh syndrome30.6SDHA, SDHAF1, SDHB, SDHD
2paraganglioma28.0SDHAF2, SDHB, SDHC, SDHD
3pheochromocytoma27.9SDHA, SDHB, SDHC, SDHD
4mitochondrial respiratory chain complex ii deficiency, sdha-related12.4
5mitochondrial respiratory chain complex ii deficiency, sdhaf1-related12.4
6mitochondrial respiratory chain complex ii deficiency, sdhd-related12.4
7retinoschisis autosomal dominant10.0SDHB, SDHD
8cowden syndrome 210.0SDHA, SDHB
9paragangliomas 59.9SDHA, SDHB
10ameloblastoma9.9SDHB, SDHD
11albinism, oculocutaneous, type iv9.9SDHA, SDHB
12paragangliomas 49.9SDHA, SDHB
13in situ carcinoma9.8SDHB, SDHD
14salpingo-oophoritis9.8SDHA, SDHAF1, SDHD
15thyroid crisis9.8SDHA, SDHAF1, SDHD
16leukodystrophy9.8
17encephalomyopathy9.8
18cardiomyopathy9.8
19pancreatitis, pediatric9.7SDHC, SDHD
20pediatric infratentorial ependymoma9.7SDHB, SDHD
21large cell medulloblastoma9.7SDHA, SDHB
22mental retardation with spastic paraplegia9.7SDHA, SDHAF1, SDHD
23immunodeficiency, common variable, 59.5SDHB, SDHD
24torticollis, familial9.4SDHB, SDHC, SDHD
25carcinoid tumors, intestinal9.4SDHB, SDHC, SDHD
26sporadic secreting paraganglioma9.3SDHB, SDHC, SDHD
27neurofibromatosis-noonan syndrome9.3SDHB, SDHC, SDHD
28lipoma of the rectum9.3SDHB, SDHC, SDHD
29von hippel-lindau syndrome9.3SDHB, SDHC, SDHD
30seminal vesicle cystadenoma8.9SDHAF2, SDHB, SDHC, SDHD
31uterine corpus endometrial carcinoma8.9SDHAF2, SDHB, SDHC, SDHD
32paraganglioma and gastric stromal sarcoma8.9SDHA, SDHB, SDHC, SDHD
33mercaptolactate-cysteine disulfiduria8.9SDHA, SDHB, SDHC, SDHD
34richter's syndrome8.9SDHAF2, SDHB, SDHC, SDHD
35endocrine gland cancer8.9SDHA, SDHB, SDHC, SDHD
36tumor predisposition syndrome8.9SDHA, SDHB, SDHC, SDHD
37gastrointestinal stromal tumor8.9SDHA, SDHB, SDHC, SDHD
38neuroendocrine carcinoma of the cervix8.4SDHA, SDHAF2, SDHB, SDHC, SDHD
39lung abscess8.4SDHA, SDHAF2, SDHB, SDHC, SDHD
40hidrotic ectodermal dysplasia 28.4SDHA, SDHAF2, SDHB, SDHC, SDHD
41steroid-induced glaucoma8.4SDHA, SDHAF2, SDHB, SDHC, SDHD
42opitz-gbbb syndrome8.4SDHA, SDHAF2, SDHB, SDHC, SDHD
43glycogen storage disease ib8.0SDHA, 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 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 visual impairment HP:0000505
2 ptosis HP:0000508
3 pigmentary retinopathy HP:0000580
4 ophthalmoplegia HP:0000602
5 nystagmus HP:0000639
6 optic atrophy HP:0000648
7 seizures HP:0001250
8 ataxia HP:0001251
9 spasticity HP:0001257
10 neonatal hypotonia HP:0001319
11 muscle weakness HP:0001324
12 dystonia HP:0001332
13 myoclonus HP:0001336
14 hyperreflexia HP:0001347
15 flexion contracture HP:0001371
16 hypertrophic cardiomyopathy HP:0001639
17 dilated cardiomyopathy HP:0001644
18 increased serum lactate HP:0002151
19 leukoencephalopathy HP:0002352
20 developmental regression HP:0002376
21 ragged-red muscle fibers HP:0003200
22 babinski sign HP:0003487
23 exercise intolerance HP:0003546
24 short stature HP:0004322
25 stress/infection-induced lactic acidosis HP:0004897
26 progressive leukoencephalopathy HP:0006980
27 decreased activity of mitochondrial complex ii HP:0008314
28 abnormal mitochondria in muscle tissue HP:0008316
29 increased intramyocellular lipid droplets HP:0012240
30 cognitive impairment HP:0100543

UMLS symptoms related to Mitochondrial Complex Ii Deficiency:


ataxia, muscle spasticity, myoclonus, seizures, muscle weakness

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 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1UbiquinonePhase 3132
2
Coenzyme Q10NutraceuticalPhase 3108303-98-05281915
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
3
DocetaxelApproved May 1996Phase 11880114977-28-5148124, 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
4
sirolimusPhase 1186353123-88-95284616, 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
5
PaclitaxelPhase 1269133069-62-436314
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
6
EverolimusPhase 11863159351-69-66442177
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
7
MiconazolePhase 1357322916-47-84189
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
8glutamineNutraceuticalPhase 1147

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


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 Deficiency25
2 Mitochondrial Respiratory Chain Complex Ii Deficiency23

Anatomical Context for Mitochondrial Complex Ii Deficiency

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MalaCards organs/tissues related to Mitochondrial Complex Ii Deficiency:

34
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:

68
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 18)
id Gene Variation Type Significance SNP ID Assembly Location
1SDHANM_004168.3(SDHA): c.91C> T (p.Arg31Ter)single nucleotide variantLikely pathogenic, Pathogenicrs142441643GRCh38Chr 5, 223509: 223509
2SDHDNM_003002.3(SDHD): c.205G> A (p.Glu69Lys)single nucleotide variantPathogenicrs202198133GRCh38Chr 11, 112088902: 112088902
3SDHDNM_003002.3(SDHD): c.479G> T (p.Ter160Leu)single nucleotide variantPathogenicrs201372601GRCh37Chr 11, 111965693: 111965693
4SDHDNM_003002.3(SDHD): c.275A> G (p.Asp92Gly)single nucleotide variantPathogenicrs786205436GRCh38Chr 11, 112088972: 112088972
5SDHANM_004168.3(SDHA): c.223C> T (p.Arg75Ter)single nucleotide variantPathogenicrs781764920GRCh37Chr 5, 224547: 224547
6SDHANM_004168.3(SDHA): c.1054C> T (p.Arg352Ter)single nucleotide variantPathogenicrs746165168GRCh37Chr 5, 233750: 233750
7SDHANM_004168.3(SDHA): c.1432_1432+1delGGdeletionLikely pathogenicrs878854627GRCh37Chr 5, 236714: 236715
8SDHANM_004168.3(SDHA): c.1432+1G> Csingle nucleotide variantLikely pathogenicrs878854628GRCh37Chr 5, 236715: 236715
9SDHANM_004168.3(SDHA): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenicrs1061517GRCh38Chr 5, 218356: 218356
10SDHANM_004168.3(SDHA): c.457-2_457delAGCdeletionLikely pathogenicrs878854632GRCh37Chr 5, 225996: 225998
11SDHANM_004168.3(SDHA): c.1523C> T (p.Thr508Ile)single nucleotide variantPathogenicrs151266052GRCh37Chr 5, 240563: 240563
12SDHANM_004168.3(SDHA): c.1526C> T (p.Ser509Leu)single nucleotide variantPathogenicrs397514541GRCh37Chr 5, 240566: 240566
13SDHAF1NM_001042631.2(SDHAF1): c.169G> C (p.Gly57Arg)single nucleotide variantPathogenicrs137853192GRCh37Chr 19, 36486345: 36486345
14SDHAF1NM_001042631.2(SDHAF1): c.164G> C (p.Arg55Pro)single nucleotide variantPathogenicrs137853193GRCh37Chr 19, 36486340: 36486340
15SDHANM_004168.3(SDHA): c.1660C> T (p.Arg554Trp)single nucleotide variantPathogenicrs9809219GRCh37Chr 5, 251215: 251215
16SDHANM_004168.3(SDHA): c.1571C> T (p.Ala524Val)single nucleotide variantPathogenicrs137852767GRCh37Chr 5, 251126: 251126
17SDHANM_004168.3(SDHA): c.1A> C (p.Met1Leu)single nucleotide variantPathogenicrs1061517GRCh37Chr 5, 218471: 218471
18SDHANM_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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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:00057498.8SDHA, SDHB, SDHC, SDHD
3mitochondrial inner membraneGO:00057438.0SDHA, SDHB, SDHC, SDHD
4mitochondrionGO:00057397.1SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD

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

idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:00061059.8SDHA, SDHB
2respiratory electron transport chainGO:00229049.8SDHA, SDHB
3mitochondrial electron transport, succinate to ubiquinoneGO:00061219.5SDHAF2, SDHC
4aerobic respirationGO:00090609.1SDHB, SDHC
5tricarboxylic acid cycleGO:00060998.1SDHA, SDHB, SDHC, SDHD

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

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:000817710.0SDHA, SDHB
2succinate dehydrogenase activityGO:00001049.2SDHA, SDHC, SDHD
3ubiquinone bindingGO:00480399.0SDHB, SDHD
4heme bindingGO:00200379.0SDHC, SDHD
5electron carrier activityGO:00090558.5SDHB, SDHC, SDHD

Sources for Mitochondrial Complex Ii Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet