MTDPS9
MCID: MTC060
MIFTS: 45

Mitochondrial Dna Depletion Syndrome 9 (MTDPS9)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 9

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 9:

Name: Mitochondrial Dna Depletion Syndrome 9 56 12 73 29 13 6 15 71
Fatal Infantile Lactic Acidosis 12 73
Mtdps9 56 73
Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type with Methylmalonic Aciduria 73
Fatal Infantile Lactic Acidosis with Methylmalonic Aciduria 58
Mitochondrial Dna Depletion Syndrome, Type 9 39
Lactic Acidosis, Fatal Infantile, Formerly 56
Lactic Acidosis, Fatal Infantile 71

Characteristics:

Orphanet epidemiological data:

58
fatal infantile lactic acidosis with methylmalonic aciduria
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in infancy
death usually in infancy
severe disorder


HPO:

31
mitochondrial dna depletion syndrome 9:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Mitochondrial Dna Depletion Syndrome 9

OMIM : 56 Mitochondrial DNA depletion syndrome-9 is a severe autosomal recessive disorder characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. Some patients die in early infancy (summary by Rouzier et al., 2010). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041). (245400)

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 9, also known as fatal infantile lactic acidosis, is related to mitochondrial dna depletion syndrome 5 and mitochondrial dna depletion syndrome. An important gene associated with Mitochondrial Dna Depletion Syndrome 9 is SUCLG1 (Succinate-CoA Ligase GDP/ADP-Forming Subunit Alpha), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include brain, skeletal muscle and skin, and related phenotypes are hearing impairment and intellectual disability

Disease Ontology : 12 A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11.

UniProtKB/Swiss-Prot : 73 Mitochondrial DNA depletion syndrome 9: A severe disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid.

Related Diseases for Mitochondrial Dna Depletion Syndrome 9

Diseases in the Mitochondrial Dna Depletion Syndrome family:

Mitochondrial Dna Depletion Syndrome 4a Mitochondrial Dna Depletion Syndrome 9
Mitochondrial Dna Depletion Syndrome 3 Mitochondrial Dna Depletion Syndrome 6
Mitochondrial Dna Depletion Syndrome 7 Mitochondrial Dna Depletion Syndrome 1
Mitochondrial Dna Depletion Syndrome 2 Mitochondrial Dna Depletion Syndrome 5
Mitochondrial Dna Depletion Syndrome 8a Mitochondrial Dna Depletion Syndrome 4b
Mitochondrial Dna Depletion Syndrome 11 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 13 Mitochondrial Dna Depletion Syndrome 14
Mitochondrial Dna Depletion Syndrome 15 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant
Mitochondrial Dna Depletion Syndrome 16 Mitochondrial Dna Depletion Syndrome 17
Mitochondrial Dna Depletion Syndrome 18 Mitochondrial Dna Depletion Syndrome 12a
Mitochondrial Dna Depletion Syndrome 12b Mitochondrial Dna Deletion Syndromes
Multiple Mitochondrial Dna Deletion Syndrome

Diseases related to Mitochondrial Dna Depletion Syndrome 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 5 32.7 SUCLG2 SUCLG1
2 mitochondrial dna depletion syndrome 32.1 SURF1 SUCLG2 SUCLG1
3 mitochondrial complex iv deficiency 29.7 SURF1 SCO1 PET100
4 lactic acidosis 29.6 SURF1 SUCLG1 MT-ND1
5 mitochondrial complex i deficiency, nuclear type 1 28.7 SURF1 NDUFS5 NDUFB10 NDUFAF5 MT-ND1 FOXRED1
6 leigh syndrome 28.1 SURF1 SUCLG1 SCO1 PET100 NDUFAF5 MT-ND1
7 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 10.2
8 coarctation of aorta 10.1
9 myopathy 10.1
10 encephalopathy 10.1
11 hypotonia 10.1
12 cardioencephalomyopathy 10.0 SURF1 SCO1
13 alzheimer disease mitochondrial 9.9 SCO1 MT-ND1
14 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 9.9 SURF1 SCO1
15 mitochondrial dna depletion syndrome 4a 9.8 SURF1 SUCLG1
16 visual epilepsy 9.7 NDUFS5 NDUFAF5 FOXRED1
17 leigh syndrome, french canadian type 9.7 SURF1 NDUFAF5 FOXRED1
18 mitochondrial disorders 9.7 NDUFAF5 MT-ND1 FOXRED1
19 mitochondrial encephalomyopathy 9.7 SURF1 SUCLG1 MT-ND1
20 kearns-sayre syndrome 9.6 SURF1 SUCLG1 MT-ND1
21 mitochondrial myopathy 9.5 SURF1 SUCLG1 MT-ND1
22 leigh syndrome with leukodystrophy 9.5 SURF1 PET100 NDUFAF5 FOXRED1
23 mitochondrial metabolism disease 8.4 SURF1 SUCLG1 SCO1 PET100 NDUFAF5 MT-ND1

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 9:



Diseases related to Mitochondrial Dna Depletion Syndrome 9

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 9

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 9:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 muscular hypotonia 31 HP:0001252
5 failure to thrive 31 HP:0001508
6 hypophosphatemia 31 HP:0002148
7 hyperhidrosis 31 HP:0000975
8 intellectual disability, severe 31 HP:0010864
9 hypoglycemia 31 HP:0001943
10 ataxia 31 HP:0001251
11 feeding difficulties 31 HP:0011968
12 skeletal muscle atrophy 31 HP:0003202
13 growth delay 31 HP:0001510
14 respiratory failure 31 HP:0002878
15 encephalopathy 31 HP:0001298
16 lactic acidosis 31 HP:0003128
17 abnormality of the skin 31 HP:0000951
18 methylmalonic aciduria 31 HP:0012120
19 cerebral atrophy 31 HP:0002059
20 unsteady gait 31 HP:0002317
21 poor motor coordination 31 HP:0002275
22 seizure 31 HP:0001250
23 intermittent hyperpnea at rest 31 HP:0005941
24 renal aminoaciduria 31 HP:0008335

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive
poor growth

Metabolic Features:
hypoglycemia
lactic acidosis

Respiratory:
respiratory insufficiency
respiratory failure

Neurologic Central Nervous System:
cerebral atrophy
mental retardation, severe
delayed psychomotor development, severe
widening of the ventricles
brain mri shows lesions in the basal ganglia

Head And Neck Ears:
hearing impairment (rare)

Skin Nails Hair Skin:
hyperhidrosis

Abdomen Gastrointestinal:
feeding difficulties

Laboratory Abnormalities:
methylmalonic aciduria
increased lactate in spinal fluid

Muscle Soft Tissue:
muscle atrophy
ragged red fibers
mitochondrial dna depletion
hypotonia, axial, severe
inability to sit or hold head up
more

Clinical features from OMIM:

245400

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 9

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 9

Genetic Tests for Mitochondrial Dna Depletion Syndrome 9

Genetic tests related to Mitochondrial Dna Depletion Syndrome 9:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 9 (encephalomyopathic with Methylmalonic Aciduria) 29 SUCLG1

Anatomical Context for Mitochondrial Dna Depletion Syndrome 9

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 9:

40
Brain, Skeletal Muscle, Skin, Liver

Publications for Mitochondrial Dna Depletion Syndrome 9

Articles related to Mitochondrial Dna Depletion Syndrome 9:

(show all 12)
# Title Authors PMID Year
1
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. 56 6
20693550 2010
2
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. 56 6
19526370 2010
3
Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. 56 6
17668387 2007
4
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 6
28358460 2017
5
Inherited lactic acidosis: correction of the defect in cultured fibroblasts. 56
6440113 1984
6
Thiamine-responsive lactice acidosis in a patient with deficient low-KM pyruvate carboxylase activity in liver. 56
4343503 1972
7
Fatal congenital lactic acidosis in two siblings. I. Clinical and pathological findings. 56
5548117 1971
8
Fatal congenital lactic acidosis in two siblings. II. Biochemical studies in vivo and in vitro. 56
5548118 1971
9
Familial chronic acidosis due to an error in lactate and pyruvate metabolism. 56
6050895 1967
10
Lactic acidosis with necrotizing encephalopathy in two sibs. 56
5829993 1965
11
FAMILIAL INFANTILE LACTIC ACIDOSIS. 56
14288452 1965
12
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]. 61
31665838 2019

Variations for Mitochondrial Dna Depletion Syndrome 9

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 9:

6 (show top 50) (show all 59) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SUCLG1 NM_003849.4(SUCLG1):c.40A>T (p.Met14Leu)SNV Pathogenic 561158 rs796052053 2:84686354-84686354 2:84459230-84459230
2 SUCLG1 NM_003849.4(SUCLG1):c.548T>C (p.Ile183Thr)SNV Pathogenic 801727 2:84668212-84668212 2:84441088-84441088
3 SUCLG1 NM_003849.4(SUCLG1):c.201+1G>TSNV Pathogenic 801730 2:84676772-84676772 2:84449648-84449648
4 SUCLG1 NM_003849.4(SUCLG1):c.457_458delinsTA (p.Val153Ter)indel Pathogenic 818207 2:84668444-84668445 2:84441320-84441321
5 SUCLG1 SUCLG1, 2-BP DEL, 113ATdeletion Pathogenic 988
6 SUCLG1 NM_003849.4(SUCLG1):c.254G>C (p.Gly85Ala)SNV Pathogenic 18409 rs267607097 2:84670472-84670472 2:84443348-84443348
7 SUCLG1 NM_003849.4(SUCLG1):c.509C>G (p.Pro170Arg)SNV Pathogenic 18410 rs267607099 2:84668393-84668393 2:84441269-84441269
8 SUCLG1 NM_003849.4(SUCLG1):c.97+3G>CSNV Pathogenic 18411 rs786205871 2:84686294-84686294 2:84459170-84459170
9 SUCLG1 NM_003849.4(SUCLG1):c.448C>T (p.Gln150Ter)SNV Pathogenic 18412 rs267607098 2:84668454-84668454 2:84441330-84441330
10 SUCLG1 NM_003849.4(SUCLG1):c.507del (p.Asn171fs)deletion Pathogenic 212328 rs797046017 2:84668395-84668395 2:84441271-84441271
11 SUCLG1 NM_003849.4(SUCLG1):c.41T>C (p.Met14Thr)SNV Likely pathogenic 632366 rs1369567672 2:84686353-84686353 2:84459229-84459229
12 SUCLG1 NM_003849.4(SUCLG1):c.202-4T>CSNV Conflicting interpretations of pathogenicity 139369 rs141973418 2:84670528-84670528 2:84443404-84443404
13 SUCLG1 NM_003849.4(SUCLG1):c.900C>T (p.Ala300=)SNV Conflicting interpretations of pathogenicity 203967 rs113840224 2:84652653-84652653 2:84425529-84425529
14 SUCLG1 NM_003849.4(SUCLG1):c.481C>T (p.Arg161Cys)SNV Conflicting interpretations of pathogenicity 203980 rs141331864 2:84668421-84668421 2:84441297-84441297
15 SUCLG1 NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp)SNV Conflicting interpretations of pathogenicity 203970 rs143030960 2:84670490-84670490 2:84443366-84443366
16 SUCLG1 NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala)SNV Conflicting interpretations of pathogenicity 203968 rs369610897 2:84676864-84676864 2:84449740-84449740
17 SUCLG1 NM_003849.4(SUCLG1):c.590-6G>ASNV Conflicting interpretations of pathogenicity 337155 rs200107730 2:84660565-84660565 2:84433441-84433441
18 SUCLG1 NM_003849.4(SUCLG1):c.345T>C (p.Ala115=)SNV Conflicting interpretations of pathogenicity 337157 rs374594774 2:84668557-84668557 2:84441433-84441433
19 SUCLG1 NM_003849.3(SUCLG1):c.-39C>GSNV Conflicting interpretations of pathogenicity 337164 rs144946502 2:84686432-84686432 2:84459308-84459308
20 SUCLG1 NM_003849.4(SUCLG1):c.242A>G (p.Lys81Arg)SNV Conflicting interpretations of pathogenicity 337158 rs564792232 2:84670484-84670484 2:84443360-84443360
21 SUCLG1 NM_003849.4(SUCLG1):c.384C>T (p.Ala128=)SNV Conflicting interpretations of pathogenicity 389404 rs139731592 2:84668518-84668518 2:84441394-84441394
22 SUCLG1 NM_003849.4(SUCLG1):c.*38C>TSNV Uncertain significance 337151 rs369617521 2:84650832-84650832 2:84423708-84423708
23 SUCLG1 NM_003849.4(SUCLG1):c.959G>A (p.Ser320Asn)SNV Uncertain significance 337154 rs146834097 2:84652594-84652594 2:84425470-84425470
24 SUCLG1 NM_003849.4(SUCLG1):c.101C>T (p.Pro34Leu)SNV Uncertain significance 337160 rs149809280 2:84676873-84676873 2:84449749-84449749
25 SUCLG1 NM_003849.3(SUCLG1):c.-150T>ASNV Uncertain significance 337169 rs886056354 2:84686543-84686543 2:84459419-84459419
26 SUCLG1 NM_003849.3(SUCLG1):c.-186G>ASNV Uncertain significance 337170 rs143151382 2:84686579-84686579 2:84459455-84459455
27 SUCLG1 NM_003849.4(SUCLG1):c.98-15_98-14insAACCinsertion Uncertain significance 337163 rs886056352 2:84676890-84676891 2:84449766-84449767
28 SUCLG1 NM_003849.3(SUCLG1):c.-71G>TSNV Uncertain significance 337166 rs886056353 2:84686464-84686464 2:84459340-84459340
29 SUCLG1 NM_003849.3(SUCLG1):c.-107A>GSNV Uncertain significance 337167 rs140936198 2:84686500-84686500 2:84459376-84459376
30 SUCLG1 NM_003849.4(SUCLG1):c.1028G>C (p.Arg343Thr)SNV Uncertain significance 337153 rs748995693 2:84650883-84650883 2:84423759-84423759
31 SUCLG1 NM_003849.4(SUCLG1):c.201+8T>ASNV Uncertain significance 337159 rs764185628 2:84676765-84676765 2:84449641-84449641
32 SUCLG1 NM_003849.4(SUCLG1):c.*13deldeletion Uncertain significance 337152 rs527774382 2:84650857-84650857 2:84423733-84423733
33 SUCLG1 NM_003849.4(SUCLG1):c.341C>T (p.Thr114Met)SNV Uncertain significance 203973 rs201224138 2:84668561-84668561 2:84441437-84441437
34 SUCLG1 NM_003849.4(SUCLG1):c.*218A>GSNV Uncertain significance 337147 rs570310549 2:84650652-84650652 2:84423528-84423528
35 SUCLG1 NM_003849.4(SUCLG1):c.395C>G (p.Ala132Gly)SNV Uncertain significance 337156 rs376171433 2:84668507-84668507 2:84441383-84441383
36 SUCLG1 NM_003849.4(SUCLG1):c.98-10_98-8deldeletion Uncertain significance 337161 rs886056350 2:84676884-84676886 2:84449760-84449762
37 SUCLG1 NM_003849.3(SUCLG1):c.-39C>ASNV Uncertain significance 337165 rs144946502 2:84686432-84686432 2:84459308-84459308
38 SUCLG1 NM_003849.4(SUCLG1):c.11C>T (p.Thr4Ile)SNV Uncertain significance 539289 rs766814700 2:84686383-84686383 2:84459259-84459259
39 SUCLG1 NM_003849.4(SUCLG1):c.352A>G (p.Ile118Val)SNV Uncertain significance 539290 rs181953896 2:84668550-84668550 2:84441426-84441426
40 SUCLG1 NM_003849.4(SUCLG1):c.635A>G (p.Gln212Arg)SNV Uncertain significance 561121 rs767781003 2:84660514-84660514 2:84433390-84433390
41 SUCLG1 NM_003849.4(SUCLG1):c.825+1G>ASNV Uncertain significance 632364 rs750388794 2:84658631-84658631 2:84431507-84431507
42 SUCLG1 NM_003849.4(SUCLG1):c.443C>T (p.Pro148Leu)SNV Uncertain significance 635004 rs1331661730 2:84668459-84668459 2:84441335-84441335
43 SUCLG1 NM_003849.4(SUCLG1):c.721G>A (p.Glu241Lys)SNV Uncertain significance 579004 rs145106503 2:84658736-84658736 2:84431612-84431612
44 SUCLG1 NM_003849.4(SUCLG1):c.338C>G (p.Ala113Gly)SNV Uncertain significance 567097 rs200123223 2:84668564-84668564 2:84441440-84441440
45 SUCLG1 NM_003849.4(SUCLG1):c.152_153del (p.Tyr51fs)deletion Uncertain significance 632365 rs1308442327 2:84676821-84676822 2:84449697-84449698
46 SUCLG1 NM_003849.4(SUCLG1):c.24C>A (p.Ala8=)SNV Uncertain significance 841381 2:84686370-84686370 2:84459246-84459246
47 SUCLG1 NM_003849.4(SUCLG1):c.*126G>ASNV Uncertain significance 898838 2:84650744-84650744 2:84423620-84423620
48 SUCLG1 NM_003849.4(SUCLG1):c.87C>T (p.Arg29=)SNV Uncertain significance 897750 2:84686307-84686307 2:84459183-84459183
49 SUCLG1 NM_003849.4(SUCLG1):c.319-8T>CSNV Uncertain significance 895876 2:84668591-84668591 2:84441467-84441467
50 SUCLG1 NM_003849.4(SUCLG1):c.202-3C>TSNV Uncertain significance 896150 2:84670527-84670527 2:84443403-84443403

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 9:

73
# Symbol AA change Variation ID SNP ID
1 SUCLG1 p.Met14Leu VAR_065120 rs796052053
2 SUCLG1 p.Pro170Arg VAR_065121 rs267607099
3 SUCLG1 p.Gly85Ala VAR_065157 rs267607097

Expression for Mitochondrial Dna Depletion Syndrome 9

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 9.

Pathways for Mitochondrial Dna Depletion Syndrome 9

GO Terms for Mitochondrial Dna Depletion Syndrome 9

Cellular components related to Mitochondrial Dna Depletion Syndrome 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 respiratory chain GO:0070469 9.65 NDUFS5 NDUFB7 NDUFB10 MT-ND1 FOXRED1
2 mitochondrial inner membrane GO:0005743 9.56 SURF1 SCO1 NDUFS5 NDUFB7 NDUFB10 NDUFAF5
3 mitochondrial respiratory chain complex I GO:0005747 9.55 NDUFS5 NDUFB7 NDUFB10 MT-ND1 FOXRED1
4 mitochondrial intermembrane space GO:0005758 9.5 NDUFS5 NDUFB7 CHCHD4
5 mitochondrion GO:0005739 9.4 SURF1 SUCLG2 SUCLG1 SCO1 PET100 NDUFS5
6 integral component of mitochondrial inner membrane GO:0031305 9.37 SCO1 PET100

Biological processes related to Mitochondrial Dna Depletion Syndrome 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.56 SURF1 NDUFS5 NDUFB7 NDUFB10 NDUFAF5 MT-ND1
2 tricarboxylic acid cycle GO:0006099 9.46 SUCLG2 SUCLG1
3 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.46 NDUFS5 NDUFB7 NDUFB10 MT-ND1
4 aerobic respiration GO:0009060 9.43 SURF1 MT-ND1
5 mitochondrial respiratory chain complex IV assembly GO:0033617 9.43 SURF1 SCO1 PET100
6 respiratory chain complex IV assembly GO:0008535 9.4 SURF1 SCO1
7 succinate metabolic process GO:0006105 9.37 SUCLG2 SUCLG1
8 succinyl-CoA metabolic process GO:0006104 9.32 SUCLG2 SUCLG1
9 mitochondrial respiratory chain complex I assembly GO:0032981 9.1 NDUFS5 NDUFB7 NDUFB10 NDUFAF5 MT-ND1 FOXRED1

Molecular functions related to Mitochondrial Dna Depletion Syndrome 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase activity GO:0003954 9.32 NDUFB7 MT-ND1
2 succinate-CoA ligase (GDP-forming) activity GO:0004776 9.26 SUCLG2 SUCLG1
3 succinate-CoA ligase (ADP-forming) activity GO:0004775 9.16 SUCLG2 SUCLG1
4 succinate-CoA ligase activity GO:0004774 8.96 SUCLG2 SUCLG1
5 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 NDUFS5 NDUFB7 NDUFB10 MT-ND1

Sources for Mitochondrial Dna Depletion Syndrome 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MESH via Orphanet
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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