MTDPS9
MCID: MTC060
MIFTS: 51

Mitochondrial Dna Depletion Syndrome 9 (MTDPS9)

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

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 9

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 9:

Name: Mitochondrial Dna Depletion Syndrome 9 57 12 20 72 29 13 6 15 70
Mitochondrial Encephalomyopathy Aminoacidopathy 20 6
Fatal Infantile Lactic Acidosis 12 72
Mtdps9 57 72
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria, Autosomal Recessive 20
Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 20
Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type with Methylmalonic Aciduria 72
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 20
Mtdna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 20
Fatal Infantile Lactic Acidosis with Methylmalonic Aciduria 58
Mitochondrial Dna Depletion Syndrome, Type 9 39
Lactic Acidosis, Fatal Infantile, Formerly 57
Lactic Acidosis, Fatal Infantile 70
Booth-Haworth-Dilling Syndrome 20

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
mitochondrial dna depletion syndrome 9:
Onset and clinical course death in infancy neonatal death infantile onset neonatal onset death in childhood
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Mitochondrial Dna Depletion Syndrome 9

GARD : 20 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (MTDPS9) affects the brain, nervous system, and muscles. Symptoms are different from person to person. They may include muscle weakness, hearing loss, and difficulty feeding and breathing. Other symptoms may include severe low muscle tone, developmental delay, and cognitive impairment. Symptoms usually begin in early infancy and get worse over time, often leading to death in infancy. MTDPS9 is caused by genetic variants in the SUCLG1 gene (also known as the SUCLA1 gene) and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies, and the removal of a small piece of muscle for examination ( muscle biopsy ). The diagnosis may also be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms and providing support.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 9, also known as mitochondrial encephalomyopathy aminoacidopathy, 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 Pathways of neurodegeneration - multiple diseases. Affiliated tissues include eye, liver and skeletal muscle, and related phenotypes are ptosis and ataxia

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.

OMIM® : 57 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 19
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 top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 5 32.5 SUCLG2 SUCLG1 SUCLA2
2 mitochondrial dna depletion syndrome 32.3 SUCLG2 SUCLG1 SUCLA2
3 mitochondrial dna depletion syndrome, encephalomyopathic form 31.3 SUCLG1 SUCLA2
4 lactic acidosis 30.6 SUCLG1 PET100 NDUFS4 MT-ND1
5 kearns-sayre syndrome 30.6 SUCLG1 SUCLA2 MT-ND1 COX10
6 mitochondrial complex iv deficiency, nuclear type 1 30.1 SCO1 PET100 COX10
7 hypertrophic cardiomyopathy 29.4 SCO1 NDUFS4 NDUFB7 MT-ND1 COX10 COA5
8 mitochondrial complex i deficiency, nuclear type 1 28.3 SUCLG1 PET100 NDUFS5 NDUFS4 NDUFS3 NDUFS2
9 leigh syndrome 27.0 SUCLG1 SUCLA2 SCO1 PET100 NDUFS4 NDUFS3
10 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 11.8
11 mohr-tranebjaerg syndrome 11.6
12 west syndrome 10.6
13 scoliosis 10.6
14 ptosis 10.6
15 sensorineural hearing loss 10.6
16 methylmalonic acidemia 10.6
17 dystonia 10.6
18 muscular atrophy 10.6
19 cerebral atrophy 10.6
20 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.5
21 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.5
22 microcephaly 10.5
23 hypertonia 10.5
24 myoclonus 10.5
25 mitochondrial dna depletion syndrome 6 10.3 SUCLG1 SUCLA2
26 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 10.2 SUCLG1 SUCLA2
27 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 10.2
28 infantile cerebellar-retinal degeneration 10.2 SUCLG1 SUCLA2
29 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 10.2 SUCLG1 SUCLA2
30 mitochondrial dna depletion syndrome 7 10.2 SUCLG1 SUCLA2
31 coarctation of aorta 10.1
32 mitochondrial complex iv deficiency, nuclear type 12 10.1
33 myopathy 10.1
34 encephalopathy 10.1
35 hypotonia 10.1
36 mitochondrial dna depletion syndrome 4a 10.1 SUCLG1 SUCLA2 MT-ND1
37 nuclear gene-encoded leigh syndrome 10.1 FOXRED1 COX10
38 nuclear gene-encoded leigh syndrome spectrum 10.1 FOXRED1 COX10
39 epidermolysis bullosa, junctional, herlitz type 10.0 NDUFS4 NDUFAF5
40 cardioencephalomyopathy 10.0 SCO1 COA5
41 charcot-marie-tooth disease, type 4k 9.9 PET100 COA5
42 chronic progressive external ophthalmoplegia 9.9 SUCLG1 SUCLA2 MT-ND1 COX10
43 mitochondrial encephalomyopathy 9.7 SUCLG1 SUCLA2 NDUFS4 MT-ND1 COX10
44 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 9.7 SCO1 COX10 COA5
45 neuropathy, ataxia, and retinitis pigmentosa 9.7 COX10 COA5
46 leukodystrophy 9.6 NDUFS4 NDUFS3 NDUFS2 NDUFAF5 FOXRED1
47 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.5 NDUFS2 MT-ND1 COX10
48 leigh syndrome with leukodystrophy 9.5 PET100 NDUFS4 NDUFS3 NDUFS2 NDUFAF5 FOXRED1
49 mitochondrial disorders 9.4 SCO1 NDUFS4 NDUFS2 MT-ND1 FOXRED1 COX10
50 leber hereditary optic neuropathy, modifier of 9.3 NDUFS4 NDUFS3 NDUFS2 NDUFAF5 MT-ND1 COX10

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 top 50) (show all 55)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 hallmark (90%) HP:0000508
2 ataxia 31 hallmark (90%) HP:0001251
3 cerebral calcification 31 hallmark (90%) HP:0002514
4 global developmental delay 31 hallmark (90%) HP:0001263
5 behavioral abnormality 31 hallmark (90%) HP:0000708
6 microcephaly 31 hallmark (90%) HP:0000252
7 sensorineural hearing impairment 31 hallmark (90%) HP:0000407
8 visual impairment 31 hallmark (90%) HP:0000505
9 short stature 31 hallmark (90%) HP:0004322
10 abnormality of visual evoked potentials 31 hallmark (90%) HP:0000649
11 aminoaciduria 31 hallmark (90%) HP:0003355
12 skeletal muscle atrophy 31 hallmark (90%) HP:0003202
13 decreased nerve conduction velocity 31 hallmark (90%) HP:0000762
14 abnormal electroretinogram 31 hallmark (90%) HP:0000512
15 elevated serum creatine kinase 31 hallmark (90%) HP:0003236
16 intellectual disability, progressive 31 hallmark (90%) HP:0006887
17 cachexia 31 hallmark (90%) HP:0004326
18 ventriculomegaly 31 hallmark (90%) HP:0002119
19 generalized hirsutism 31 hallmark (90%) HP:0002230
20 hyporeflexia 31 hallmark (90%) HP:0001265
21 delayed gross motor development 31 hallmark (90%) HP:0002194
22 methylmalonic aciduria 31 very rare (1%) HP:0012120
23 seizure 31 hallmark (90%) HP:0001250
24 hyperhidrosis 31 very rare (1%) HP:0000975
25 hypothermia 31 very rare (1%) HP:0002045
26 hearing impairment 31 very rare (1%) HP:0000365
27 intellectual disability, severe 31 very rare (1%) HP:0010864
28 hypoglycemia 31 very rare (1%) HP:0001943
29 intrauterine growth retardation 31 very rare (1%) HP:0001511
30 areflexia 31 very rare (1%) HP:0001284
31 poor head control 31 very rare (1%) HP:0002421
32 increased csf lactate 31 very rare (1%) HP:0002490
33 lactic acidosis 31 very rare (1%) HP:0003128
34 feeding difficulties 31 very rare (1%) HP:0011968
35 generalized neonatal hypotonia 31 very rare (1%) HP:0008935
36 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
37 infantile muscular hypotonia 31 very rare (1%) HP:0008947
38 focal t2 hyperintense basal ganglia lesion 31 very rare (1%) HP:0007183
39 lacticaciduria 31 very rare (1%) HP:0003648
40 elevated serum alanine aminotransferase 31 very rare (1%) HP:0031964
41 elevated serum aspartate aminotransferase 31 very rare (1%) HP:0031956
42 elevated lactate:pyruvate ratio 31 very rare (1%) HP:0032653
43 persistent head lag 31 very rare (1%) HP:0032988
44 failure to thrive 31 HP:0001508
45 neonatal respiratory distress 31 HP:0002643
46 respiratory failure 31 HP:0002878
47 decreased activity of mitochondrial complex i 31 HP:0011923
48 encephalopathy 31 HP:0001298
49 cerebral atrophy 31 HP:0002059
50 hyperglycinemia 31 HP:0002154

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive
poor growth

Respiratory:
respiratory insufficiency
respiratory failure

Abdomen Gastrointestinal:
feeding difficulties

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

Metabolic Features:
hypoglycemia
lactic acidosis

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 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Mitochondrial Dna Depletion Syndrome 9 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 9.43 COX10 NDUFA8 NDUFB7 NDUFS2 NDUFS3 NDUFS5
2 FOXO1 nuclear localization GR00247-A-1 8.92 MT-ND1 NDUFB7 NDUFS3 ZNF335

MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.47 CHCHD4 COA5 COX10 DDX46 FOXRED1 NDUFA8

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
Eye, Liver, Skeletal Muscle, Brain

Publications for Mitochondrial Dna Depletion Syndrome 9

Articles related to Mitochondrial Dna Depletion Syndrome 9:

(show all 18)
# Title Authors PMID Year
1
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. 6 57
20693550 2010
2
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. 6 57
19526370 2010
3
Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. 6 57
17668387 2007
4
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family. 6
29217198 2018
5
The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine. 6
23759946 2013
6
Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene. 6
21639866 2011
7
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. 6
20453710 2010
8
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. 6
17287286 2007
9
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. 6
17301081 2007
10
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. 6
15877282 2005
11
Inherited lactic acidosis: correction of the defect in cultured fibroblasts. 57
6440113 1984
12
Thiamine-responsive lactice acidosis in a patient with deficient low-KM pyruvate carboxylase activity in liver. 57
4343503 1972
13
Fatal congenital lactic acidosis in two siblings. I. Clinical and pathological findings. 57
5548117 1971
14
Fatal congenital lactic acidosis in two siblings. II. Biochemical studies in vivo and in vitro. 57
5548118 1971
15
Familial chronic acidosis due to an error in lactate and pyruvate metabolism. 57
6050895 1967
16
Lactic acidosis with necrotizing encephalopathy in two sibs. 57
5829993 1965
17
FAMILIAL INFANTILE LACTIC ACIDOSIS. 57
14288452 1965
18
[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 150)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SUCLG1 SUCLG1, 2-BP DEL, 113AT Deletion Pathogenic 988 GRCh37:
GRCh38:
2 SUCLG1 NM_003849.4(SUCLG1):c.254G>C (p.Gly85Ala) SNV Pathogenic 18409 rs267607097 GRCh37: 2:84670472-84670472
GRCh38: 2:84443348-84443348
3 SUCLG1 NM_003849.4(SUCLG1):c.509C>G (p.Pro170Arg) SNV Pathogenic 18410 rs267607099 GRCh37: 2:84668393-84668393
GRCh38: 2:84441269-84441269
4 SUCLG1 NM_003849.4(SUCLG1):c.97+3G>C SNV Pathogenic 18411 rs786205871 GRCh37: 2:84686294-84686294
GRCh38: 2:84459170-84459170
5 SUCLG1 NM_003849.4(SUCLG1):c.448C>T (p.Gln150Ter) SNV Pathogenic 18412 rs267607098 GRCh37: 2:84668454-84668454
GRCh38: 2:84441330-84441330
6 SUCLA2 SUCLA2, 43-BP DEL AND 5-BP INS Indel Pathogenic 5975 GRCh37:
GRCh38:
7 SUCLA2 NM_003850.2(SUCLA2):c.352G>A (p.Gly118Arg) SNV Pathogenic 5977 rs121908537 GRCh37: 13:48563036-48563036
GRCh38: 13:47988901-47988901
8 SUCLA2 NM_003850.2(SUCLA2):c.850C>T (p.Arg284Cys) SNV Pathogenic 5978 rs121908538 GRCh37: 13:48528645-48528645
GRCh38: 13:47954510-47954510
9 SUCLA2 NM_003850.2(SUCLA2):c.534+1G>A SNV Pathogenic 5976 rs113994161 GRCh37: 13:48562675-48562675
GRCh38: 13:47988540-47988540
10 SUCLA2 NM_003850.2(SUCLA2):c.751G>A (p.Asp251Asn) SNV Pathogenic 66034 rs397515462 GRCh37: 13:48542781-48542781
GRCh38: 13:47968646-47968646
11 SUCLG1 NM_003849.4(SUCLG1):c.548T>C (p.Ile183Thr) SNV Pathogenic 801727 rs140626260 GRCh37: 2:84668212-84668212
GRCh38: 2:84441088-84441088
12 SUCLG1 NM_003849.4(SUCLG1):c.201+1G>T SNV Pathogenic 801730 rs1573374828 GRCh37: 2:84676772-84676772
GRCh38: 2:84449648-84449648
13 SUCLA2 NM_003850.2(SUCLA2):c.887del (p.Gln296fs) Deletion Pathogenic 802962 rs1593479845 GRCh37: 13:48528608-48528608
GRCh38: 13:47954473-47954473
14 SUCLG1 NM_003849.4(SUCLG1):c.457_458delinsTA (p.Val153Ter) Indel Pathogenic 818207 rs1573369929 GRCh37: 2:84668444-84668445
GRCh38: 2:84441320-84441321
15 SUCLG1 NM_003849.4(SUCLG1):c.40A>T (p.Met14Leu) SNV Pathogenic 561158 rs796052053 GRCh37: 2:84686354-84686354
GRCh38: 2:84459230-84459230
16 SUCLG1 NM_003849.4(SUCLG1):c.987dup (p.Ala330fs) Duplication Pathogenic 998016 GRCh37: 2:84652565-84652566
GRCh38: 2:84425441-84425442
17 SUCLA2 NM_003850.3(SUCLA2):c.271+1G>A SNV Pathogenic 1031364 GRCh37: 13:48570977-48570977
GRCh38: 13:47996842-47996842
18 SUCLA2 NM_003850.2(SUCLA2):c.815A>T (p.Asp272Val) SNV Pathogenic 522686 rs1555256440 GRCh37: 13:48528680-48528680
GRCh38: 13:47954545-47954545
19 SUCLG1 NM_003849.4(SUCLG1):c.507del (p.Asn171fs) Deletion Pathogenic 212328 rs797046017 GRCh37: 2:84668395-84668395
GRCh38: 2:84441271-84441271
20 SUCLA2 NM_003850.3(SUCLA2):c.997G>T (p.Asp333Tyr) SNV Likely pathogenic 872975 GRCh37:
GRCh38:
21 SUCLG1 NM_003849.4(SUCLG1):c.41T>C (p.Met14Thr) SNV Likely pathogenic 632366 rs1369567672 GRCh37: 2:84686353-84686353
GRCh38: 2:84459229-84459229
22 SUCLG1 NM_003849.4(SUCLG1):c.384C>T (p.Ala128=) SNV Conflicting interpretations of pathogenicity 389404 rs139731592 GRCh37: 2:84668518-84668518
GRCh38: 2:84441394-84441394
23 SUCLA2 NM_003850.2(SUCLA2):c.920C>T (p.Ala307Val) SNV Conflicting interpretations of pathogenicity 623373 rs1011464708 GRCh37: 13:48528575-48528575
GRCh38: 13:47954440-47954440
24 SUCLG1 NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala) SNV Conflicting interpretations of pathogenicity 203968 rs369610897 GRCh37: 2:84676864-84676864
GRCh38: 2:84449740-84449740
25 SUCLG1 NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) SNV Conflicting interpretations of pathogenicity 203970 rs143030960 GRCh37: 2:84670490-84670490
GRCh38: 2:84443366-84443366
26 SUCLA2 NM_003850.2(SUCLA2):c.236C>T (p.Ser79Leu) SNV Conflicting interpretations of pathogenicity 203960 rs142289138 GRCh37: 13:48571013-48571013
GRCh38: 13:47996878-47996878
27 SUCLA2 NM_003850.2(SUCLA2):c.49C>G (p.Arg17Gly) SNV Conflicting interpretations of pathogenicity 288868 rs200124902 GRCh37: 13:48575357-48575357
GRCh38: 13:48001221-48001221
28 SUCLG1 NM_003849.4(SUCLG1):c.825+1G>A SNV Conflicting interpretations of pathogenicity 632364 rs750388794 GRCh37: 2:84658631-84658631
GRCh38: 2:84431507-84431507
29 SUCLG1 NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) SNV Conflicting interpretations of pathogenicity 203967 rs113840224 GRCh37: 2:84652653-84652653
GRCh38: 2:84425529-84425529
30 SUCLG1 NM_003849.4(SUCLG1):c.345T>C (p.Ala115=) SNV Conflicting interpretations of pathogenicity 337157 rs374594774 GRCh37: 2:84668557-84668557
GRCh38: 2:84441433-84441433
31 SUCLA2 NM_003850.2(SUCLA2):c.1350G>A (p.Ala450=) SNV Conflicting interpretations of pathogenicity 259184 rs144969057 GRCh37: 13:48517548-48517548
GRCh38: 13:47943413-47943413
32 SUCLG1 NM_003849.4(SUCLG1):c.202-4T>C SNV Conflicting interpretations of pathogenicity 139369 rs141973418 GRCh37: 2:84670528-84670528
GRCh38: 2:84443404-84443404
33 SUCLA2 NM_003850.3(SUCLA2):c.58C>T (p.Arg20Trp) SNV Uncertain significance 1057019 GRCh37: 13:48575348-48575348
GRCh38: 13:48001212-48001212
34 SUCLG1 NM_003849.4(SUCLG1):c.482G>A (p.Arg161His) SNV Uncertain significance 1064157 GRCh37: 2:84668420-84668420
GRCh38: 2:84441296-84441296
35 SUCLG1 NM_003849.4(SUCLG1):c.1028G>C (p.Arg343Thr) SNV Uncertain significance 337153 rs748995693 GRCh37: 2:84650883-84650883
GRCh38: 2:84423759-84423759
36 SUCLG1 NM_003849.4(SUCLG1):c.959G>A (p.Ser320Asn) SNV Uncertain significance 337154 rs146834097 GRCh37: 2:84652594-84652594
GRCh38: 2:84425470-84425470
37 SUCLG1 NM_003849.3(SUCLG1):c.-150T>A SNV Uncertain significance 337169 rs886056354 GRCh37: 2:84686543-84686543
GRCh38: 2:84459419-84459419
38 SUCLG1 NM_003849.4(SUCLG1):c.101C>T (p.Pro34Leu) SNV Uncertain significance 337160 rs149809280 GRCh37: 2:84676873-84676873
GRCh38: 2:84449749-84449749
39 SUCLG1 NM_003849.4(SUCLG1):c.*13del Deletion Uncertain significance 337152 rs527774382 GRCh37: 2:84650857-84650857
GRCh38: 2:84423733-84423733
40 SUCLG1 NM_003849.3(SUCLG1):c.-186G>A SNV Uncertain significance 337170 rs143151382 GRCh37: 2:84686579-84686579
GRCh38: 2:84459455-84459455
41 SUCLG1 NM_003849.4(SUCLG1):c.590-6G>A SNV Uncertain significance 337155 rs200107730 GRCh37: 2:84660565-84660565
GRCh38: 2:84433441-84433441
42 SUCLG1 NM_003849.4(SUCLG1):c.98-15_98-14insAACC Insertion Uncertain significance 337163 rs886056352 GRCh37: 2:84676890-84676891
GRCh38: 2:84449766-84449767
43 SUCLG1 NM_003849.3(SUCLG1):c.-71G>T SNV Uncertain significance 337166 rs886056353 GRCh37: 2:84686464-84686464
GRCh38: 2:84459340-84459340
44 SUCLG1 NM_003849.3(SUCLG1):c.-39C>G SNV Uncertain significance 337164 rs144946502 GRCh37: 2:84686432-84686432
GRCh38: 2:84459308-84459308
45 SUCLG1 NM_003849.3(SUCLG1):c.-107A>G SNV Uncertain significance 337167 rs140936198 GRCh37: 2:84686500-84686500
GRCh38: 2:84459376-84459376
46 SUCLA2 NM_003850.3(SUCLA2):c.880T>C (p.Trp294Arg) SNV Uncertain significance 1030717 GRCh37: 13:48528615-48528615
GRCh38: 13:47954480-47954480
47 SUCLG1 NM_003849.4(SUCLG1):c.262C>T (p.Pro88Ser) SNV Uncertain significance 1031363 GRCh37: 2:84670464-84670464
GRCh38: 2:84443340-84443340
48 SUCLA2 NM_003850.2(SUCLA2):c.617A>G (p.Glu206Gly) SNV Uncertain significance 203956 rs141647723 GRCh37: 13:48547445-48547445
GRCh38: 13:47973310-47973310
49 SUCLG1 NM_003849.4(SUCLG1):c.24C>A (p.Ala8=) SNV Uncertain significance 841381 GRCh37: 2:84686370-84686370
GRCh38: 2:84459246-84459246
50 SUCLA2 NM_003850.2(SUCLA2):c.80C>T (p.Ala27Val) SNV Uncertain significance 203952 rs368407554 GRCh37: 13:48575326-48575326
GRCh38: 13:48001190-48001190

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

72
# 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 SUCLG2 SUCLG1 SUCLA2 SCO1 NDUFS5 NDUFS4
2
Show member pathways
13.19 NDUFS5 NDUFS4 NDUFS3 NDUFS2 NDUFB7 NDUFB10
3
Show member pathways
12.63 SUCLG2 SUCLG1 SUCLA2 SCO1 NDUFS5 NDUFS4
4
Show member pathways
12.48 NDUFS5 NDUFS4 NDUFS3 NDUFS2 NDUFB7 NDUFB10
5
Show member pathways
12.07 NDUFS5 NDUFS4 NDUFS3 NDUFS2 NDUFB7 NDUFB10
6
Show member pathways
11.75 SUCLG2 SUCLG1 SUCLA2
7
Show member pathways
11.62 SUCLG2 SUCLG1 SUCLA2
8 11.08 SUCLG2 SUCLG1 SUCLA2
9 11.03 NDUFS4 NDUFS2
10 10.78 SUCLG2 SUCLG1 SUCLA2

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 mitochondrial inner membrane GO:0005743 10.03 SCO1 NDUFS5 NDUFS4 NDUFS3 NDUFS2 NDUFB7
2 respiratory chain GO:0070469 9.81 NDUFS5 NDUFS4 NDUFS3 NDUFS2 NDUFB7 NDUFB10
3 mitochondrial matrix GO:0005759 9.8 SUCLG2 SUCLG1 SUCLA2 NDUFS3 NDUFS2
4 mitochondrial intermembrane space GO:0005758 9.62 NDUFS5 NDUFB7 NDUFA8 CHCHD4
5 mitochondrial membrane GO:0031966 9.61 NDUFS3 MT-ND1 COX10
6 mitochondrial respiratory chain complex I GO:0005747 9.61 NDUFS5 NDUFS4 NDUFS3 NDUFS2 NDUFB7 NDUFB10
7 mitochondrion GO:0005739 9.58 SUCLG2 SUCLG1 SUCLA2 SCO1 PET100 NDUFS5
8 succinate-CoA ligase complex GO:0042709 9.37 SUCLG2 SUCLA2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.9 NDUFS5 NDUFS4 NDUFS3 NDUFS2 NDUFB7 NDUFB10
2 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.56 NDUFS5 NDUFS4 NDUFS3 NDUFS2 NDUFB7 NDUFB10
3 tricarboxylic acid cycle GO:0006099 9.5 SUCLG2 SUCLG1 SUCLA2
4 reactive oxygen species metabolic process GO:0072593 9.49 NDUFS4 NDUFS3
5 aerobic respiration GO:0009060 9.48 MT-ND1 COX10
6 cellular respiration GO:0045333 9.46 NDUFS4 COX10
7 respiratory chain complex IV assembly GO:0008535 9.43 SCO1 COX10
8 mitochondrial respiratory chain complex IV assembly GO:0033617 9.43 SCO1 PET100 COA5
9 succinate metabolic process GO:0006105 9.4 SUCLG2 SUCLA2
10 succinyl-CoA metabolic process GO:0006104 9.37 SUCLG2 SUCLA2
11 mitochondrial respiratory chain complex I assembly GO:0032981 9.32 NDUFS5 NDUFS4 NDUFS3 NDUFS2 NDUFB7 NDUFB10

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.77 NDUFS3 NDUFS2 NDUFAF5 FOXRED1 CHCHD4
2 ligase activity GO:0016874 9.58 SUCLG2 SUCLG1 SUCLA2
3 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.5 NDUFS4 NDUFS3 NDUFS2
4 succinate-CoA ligase (GDP-forming) activity GO:0004776 9.43 SUCLG2 SUCLG1 SUCLA2
5 succinate-CoA ligase (ADP-forming) activity GO:0004775 9.33 SUCLG2 SUCLG1 SUCLA2
6 NADH dehydrogenase activity GO:0003954 9.26 NDUFS3 NDUFS2 NDUFB7 MT-ND1
7 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.23 NDUFS5 NDUFS4 NDUFS3 NDUFS2 NDUFB7 NDUFB10

Sources for Mitochondrial Dna Depletion Syndrome 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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