MTDPS5
MCID: MTC059
MIFTS: 50

Mitochondrial Dna Depletion Syndrome 5 (MTDPS5)

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 5

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 5:

Name: Mitochondrial Dna Depletion Syndrome 5 56 12 73 29 13 6 15 71
Succinate-Coa Ligase Deficiency 12 25 43
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 52 58
Mtdna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 52 58
Booth-Haworth-Dilling Syndrome 52 58
Mtdps5 56 73
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related 56
Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form with or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related 73
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Methylmalonic Aciduria, Autosomal Recessive 43
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria, Autosomal Recessive 52
Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 52
Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic with or Without Methylmalonic Aciduria 73
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria 25
Encephalomyopathic Mitochondrial Dna Depletion Syndrome with or Without Methylmalonic Aciduria 73
Mitochondrial Dna Depletion, Encephalomyopathic Form, with Methylmalonic Aciduria 25
Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome 58
Mitochondrial Encephalomyopathy Aminoacidopathy 52
Mitochondrial Dna Depletion Syndrome, Type 5 39
Mitochondrial Dna Depletion Syndrome-5 52
Succinate-Coenzyme a Ligase Deficiency 25

Characteristics:

Orphanet epidemiological data:

58
mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Inheritance: Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,late childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
increased frequency in the faroe islands (carrier 1 in 25)


HPO:

31
mitochondrial dna depletion syndrome 5:
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 5

Genetics Home Reference : 25 Succinate-CoA ligase deficiency is an inherited disorder that affects the early development of the brain and other body systems. One of the earliest signs of the disorder is very weak muscle tone (severe hypotonia), which appears in the first few months of life. Severe hypotonia delays the development of motor skills such as holding up the head and rolling over. Many affected children also have muscle weakness and reduced muscle mass, which prevents them from standing and walking independently. Additional features of succinate-CoA ligase deficiency can include progressive abnormal curvature of the spine (scoliosis or kyphosis), uncontrolled movements (dystonia), severe hearing loss, and seizures beginning in childhood. In most affected children, a substance called methylmalonic acid builds up abnormally in the body and is excreted in urine (methylmalonic aciduria). Most children with succinate-CoA ligase deficiency also experience a failure to thrive, which means that they gain weight and grow more slowly than expected. Succinate-CoA ligase deficiency causes breathing difficulties that often lead to recurrent infections of the respiratory tract. These infections can be life-threatening, and most people with succinate-CoA ligase deficiency live only into childhood or adolescence. A few individuals with succinate-CoA ligase deficiency have had an even more severe form of the disorder known as fatal infantile lactic acidosis. Affected infants develop a toxic buildup of lactic acid in the body (lactic acidosis) in the first day of life, which leads to muscle weakness and breathing difficulties. Children with fatal infantile lactic acidosis usually live only a few days after birth.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 5, also known as succinate-coa ligase deficiency, is related to mitochondrial dna depletion syndrome, encephalomyopathic form and methylmalonic acidemia, and has symptoms including seizures, muscle weakness and ophthalmoplegia. An important gene associated with Mitochondrial Dna Depletion Syndrome 5 is SUCLA2 (Succinate-CoA Ligase ADP-Forming Subunit Beta), 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 and skeletal muscle, and related phenotypes are global developmental delay and behavioral abnormality

Disease Ontology : 12 A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1933 Definition Mitochondrial DNA depletion syndrome , encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay , neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids . Mitochondria morphology was found to be abnormal on muscle biopsy . Transmission is likely to be linked to maternal mitochondrial DNA . Visit the Orphanet disease page for more resources.

OMIM : 56 Mitochondrial DNA depletion syndrome-5 is an autosomal recessive disorder characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction. Laboratory studies often show mild methylmalonic aciduria (Carrozzo et al., 2007). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041). (612073)

UniProtKB/Swiss-Prot : 73 Mitochondrial DNA depletion syndrome 5: A disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria in some patients.

Related Diseases for Mitochondrial Dna Depletion Syndrome 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome, encephalomyopathic form 31.6 SUCLG1 SUCLA2
2 methylmalonic acidemia 31.1 SUCLG1 SUCLA2 ACADS
3 mitochondrial dna depletion syndrome 9 30.8 SUCLG2 SUCLG1
4 organic acidemia 30.7 TMEM70 SUCLG1 ACADS
5 lactic acidosis 29.7 UQCRFS1 SUCLG1 POLG MT-CO1
6 kearns-sayre syndrome 29.2 SUCLG1 POLG MT-CO1 MPV17 DGUOK DARS2
7 mitochondrial dna depletion syndrome 28.8 TMEM70 SUCLG2 SUCLG1 SUCLA2 POLG MPV17
8 mohr-tranebjaerg syndrome 11.8
9 gastroesophageal reflux 10.6
10 west syndrome 10.6
11 scoliosis 10.6
12 ptosis 10.6
13 sensorineural hearing loss 10.6
14 muscular atrophy 10.6
15 cerebral atrophy 10.6
16 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.5
17 microcephaly 10.5
18 hypoglycemia 10.5
19 hypertonia 10.5
20 myoclonus 10.5
21 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 10.4
22 hypotonia 10.4
23 acyl-coa dehydrogenase, short-chain, deficiency of 10.3 ETHE1 ACADS
24 mitochondrial dna depletion syndrome 12a 10.3 WDTC1 POLG
25 pontocerebellar hypoplasia, type 6 10.2 RARS2 DARS2
26 3-methylglutaconic aciduria, type iv 10.2 TMEM70 POLG DARS2
27 3-methylcrotonyl-coa carboxylase deficiency 10.2 ETHE1 ACADS
28 hypertrophic cardiomyopathy 10.2
29 dystonia 10.2
30 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 10.2
31 fumarase deficiency 10.2 TMEM70 ETHE1
32 combined oxidative phosphorylation deficiency 12 10.2 RARS2 DARS2
33 plagiocephaly 10.1 POLG FGFR3
34 mitochondrial dna depletion syndrome 4b 10.1 TMEM70 POLG DGUOK
35 encephalopathy, ethylmalonic 10.1 TMEM70 MPV17 ETHE1 ACADS
36 critical illness polyneuropathy 10.1 GPT CS
37 rocky mountain spotted fever 10.1 GPT CS
38 mitochondrial dna maintenance defects 10.0 POLG MPV17 DGUOK
39 african tick-bite fever 10.0 GPT CS
40 pearson marrow-pancreas syndrome 10.0 POLG MPV17 DGUOK
41 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.0 TMEM70 POLG MPV17 DARS2
42 mitochondrial dna depletion syndrome 3 10.0 POLG MPV17 DGUOK
43 chronic progressive external ophthalmoplegia 10.0 POLG MPV17 DGUOK
44 motor peripheral neuropathy 10.0 POLG MPV17 DGUOK
45 acyl-coa dehydrogenase deficiency 9.9 CS ACADS
46 dacryocystocele 9.9 SUCLG2 FGFR3
47 gracile syndrome 9.9 UQCRFS1 MPV17
48 chronic inflammation of lacrimal passage 9.9 SUCLG2 FGFR3
49 mitochondrial dna depletion syndrome 7 9.9 SUCLG1 POLG MPV17 DGUOK
50 ciliary dyskinesia, primary, 19 9.9 SUCLA2 LRRC6 FGFR3 BAIAP2L2

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 5:



Diseases related to Mitochondrial Dna Depletion Syndrome 5

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 5

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 5:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 behavioral abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000708
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
5 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
6 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
7 abnormality of visual evoked potentials 58 31 hallmark (90%) Very frequent (99-80%) HP:0000649
8 aminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003355
9 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
10 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
11 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
12 decreased nerve conduction velocity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000762
13 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
14 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
15 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
16 intellectual disability, progressive 58 31 hallmark (90%) Very frequent (99-80%) HP:0006887
17 ventriculomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002119
18 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
19 hyporeflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001265
20 cerebral calcification 58 31 hallmark (90%) Very frequent (99-80%) HP:0002514
21 delayed gross motor development 58 31 hallmark (90%) Very frequent (99-80%) HP:0002194
22 methylmalonic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0012120
23 seizure 31 hallmark (90%) HP:0001250
24 muscular hypotonia 31 HP:0001252
25 seizures 58 Very frequent (99-80%)
26 feeding difficulties in infancy 31 HP:0008872
27 failure to thrive 31 HP:0001508
28 spasticity 31 HP:0001257
29 respiratory insufficiency due to muscle weakness 31 HP:0002747
30 irritability 31 HP:0000737
31 peripheral neuropathy 31 HP:0009830
32 strabismus 31 HP:0000486
33 ophthalmoplegia 31 HP:0000602
34 dystonia 31 HP:0001332
35 lactic acidosis 31 HP:0003128
36 cerebral atrophy 31 HP:0002059
37 decreased activity of mitochondrial respiratory chain 31 HP:0008972
38 athetosis 31 HP:0002305
39 generalized hypotonia 31 HP:0001290
40 methylmalonic acidemia 31 HP:0002912
41 abnormality of the basal ganglia 31 HP:0002134
42 progressive encephalopathy 31 HP:0002448
43 hyperkinetic movements 31 HP:0002487
44 facial diplegia 31 HP:0001349
45 loss of ability to walk in early childhood 31 HP:0008945

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
dystonia
hyporeflexia
cerebral atrophy
more
Growth Other:
failure to thrive

Neurologic Behavioral Psychiatric Manifestations:
irritability
crying, inconsolable

Metabolic Features:
lactic acidosis

Head And Neck Ears:
hearing loss, sensorineural

Laboratory Abnormalities:
increased serum creatine kinase
methylmalonic aciduria, mild
increased serum and csf lactate
methylglutaconic aciduria, mild
increased urinary carnitine esters
more
Muscle Soft Tissue:
muscle weakness
inability to walk
loss of ability to walk in early childhood
hypotonia
delayed motor skills
more
Respiratory:
respiratory insufficiency due to muscle weakness

Head And Neck Eyes:
strabismus
ptosis
ophthalmoplegia

Head And Neck Face:
facial diplegia

Abdomen Gastrointestinal:
poor feeding

Neurologic Peripheral Nervous System:
peripheral neuropathy, axonal and demyelinating

Clinical features from OMIM:

612073

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 5:


seizures, muscle weakness, ophthalmoplegia, athetosis, muscle spasticity

GenomeRNAi Phenotypes related to Mitochondrial Dna Depletion Syndrome 5 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.68 DGUOK FGFR3
2 Decreased viability GR00221-A-2 9.68 DGUOK FGFR3
3 Decreased viability GR00221-A-3 9.68 FGFR3
4 Decreased viability GR00249-S 9.68 FGFR3 TMEM70
5 Decreased viability GR00342-S-2 9.68 DGUOK
6 Decreased viability GR00342-S-3 9.68 DGUOK
7 Decreased viability GR00381-A-1 9.68 BAIAP2L2 ENTPD2 RARS2
8 Decreased viability GR00386-A-1 9.68 ACADS MPV17 POLG SUCLA2 UQCRFS1
9 Decreased viability GR00402-S-2 9.68 ACADS ENTPD2 GPT SUCLA2 SUCLG1 SUCLG2

MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome 5:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 ACADS CS ETHE1 FGFR3 MPV17 MT-CO1
2 hearing/vestibular/ear MP:0005377 9.63 BAIAP2L2 CS FGFR3 MPV17 POLG WDTC1
3 mortality/aging MP:0010768 9.5 ACADS CS DARS2 ETHE1 FGFR3 LRRC6

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 5

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 5

Cochrane evidence based reviews: succinate-coa ligase deficiency

Genetic Tests for Mitochondrial Dna Depletion Syndrome 5

Genetic tests related to Mitochondrial Dna Depletion Syndrome 5:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 5 (encephalomyopathic with or Without Methylmalonic Aciduria) 29 SUCLA2

Anatomical Context for Mitochondrial Dna Depletion Syndrome 5

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 5:

40
Brain, Skeletal Muscle

Publications for Mitochondrial Dna Depletion Syndrome 5

Articles related to Mitochondrial Dna Depletion Syndrome 5:

(show all 13)
# Title Authors PMID Year
1
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. 52 56 6
17287286 2007
2
The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine. 6 56
23759946 2013
3
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. 6 56
17301081 2007
4
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. 56 6
15877282 2005
5
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 6
20301762 2009
6
Mutations in SUCLA2: a tandem ride back to the Krebs cycle. 56
17347254 2007
7
Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase. 61
31240156 2019
8
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome. 61
28749033 2017
9
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children. 61
28492150 2017
10
[Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria]. 61
27143079 2016
11
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. 61
26475597 2016
12
Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria. 61
26028457 2016
13
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. 61
20693550 2010

Variations for Mitochondrial Dna Depletion Syndrome 5

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 5:

6 (show top 50) (show all 74) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SUCLA2 NM_003850.2(SUCLA2):c.815A>T (p.Asp272Val)SNV Pathogenic 522686 rs1555256440 13:48528680-48528680 13:47954545-47954545
2 SUCLA2 NM_003850.2(SUCLA2):c.887del (p.Gln296fs)deletion Pathogenic 802962 13:48528608-48528608 13:47954473-47954473
3 SUCLA2 SUCLA2, 43-BP DEL AND 5-BP INSindel Pathogenic 5975
4 SUCLA2 NM_003850.2(SUCLA2):c.534+1G>ASNV Pathogenic 5976 rs113994161 13:48562675-48562675 13:47988540-47988540
5 SUCLA2 NM_003850.2(SUCLA2):c.352G>A (p.Gly118Arg)SNV Pathogenic 5977 rs121908537 13:48563036-48563036 13:47988901-47988901
6 SUCLA2 NM_003850.2(SUCLA2):c.850C>T (p.Arg284Cys)SNV Pathogenic 5978 rs121908538 13:48528645-48528645 13:47954510-47954510
7 SUCLA2 NM_003850.2(SUCLA2):c.751G>A (p.Asp251Asn)SNV Pathogenic 66034 rs397515462 13:48542781-48542781 13:47968646-47968646
8 SUCLA2 NM_003850.2(SUCLA2):c.920C>T (p.Ala307Val)SNV Conflicting interpretations of pathogenicity 623373 rs1011464708 13:48528575-48528575 13:47954440-47954440
9 SUCLA2 NM_003850.2(SUCLA2):c.1220G>T (p.Arg407Leu)SNV Conflicting interpretations of pathogenicity 203962 rs141295770 13:48523626-48523626 13:47949491-47949491
10 SUCLA2 NM_003850.2(SUCLA2):c.811A>G (p.Met271Val)SNV Conflicting interpretations of pathogenicity 203946 rs142020748 13:48528684-48528684 13:47954549-47954549
11 SUCLA2 NM_003850.2(SUCLA2):c.272-13G>CSNV Conflicting interpretations of pathogenicity 203945 rs367890526 13:48563129-48563129 13:47988994-47988994
12 SUCLA2 NM_003850.2(SUCLA2):c.236C>T (p.Ser79Leu)SNV Conflicting interpretations of pathogenicity 203960 rs142289138 13:48571013-48571013 13:47996878-47996878
13 SUCLA2 NM_003850.2(SUCLA2):c.80C>T (p.Ala27Val)SNV Conflicting interpretations of pathogenicity 203952 rs368407554 13:48575326-48575326 13:48001190-48001190
14 SUCLA2 NM_003850.2(SUCLA2):c.1350G>A (p.Ala450=)SNV Conflicting interpretations of pathogenicity 259184 rs144969057 13:48517548-48517548 13:47943413-47943413
15 SUCLA2 NM_003850.2(SUCLA2):c.49C>G (p.Arg17Gly)SNV Conflicting interpretations of pathogenicity 288868 rs200124902 13:48575357-48575357 13:48001221-48001221
16 SUCLA2 NM_003850.2(SUCLA2):c.21C>T (p.Tyr7=)SNV Conflicting interpretations of pathogenicity 312273 rs374479008 13:48575385-48575385 13:48001249-48001249
17 SUCLA2 NM_003850.2(SUCLA2):c.*349C>GSNV Uncertain significance 312257 rs886050258 13:48517157-48517157 13:47943022-47943022
18 SUCLA2 NM_003850.2(SUCLA2):c.1074A>C (p.Thr358=)SNV Uncertain significance 312266 rs746516356 13:48528308-48528308 13:47954173-47954173
19 SUCLA2 NM_003850.2(SUCLA2):c.802+4A>GSNV Uncertain significance 312268 rs886050263 13:48542726-48542726 13:47968591-47968591
20 SUCLA2 NM_003850.2(SUCLA2):c.373C>T (p.Pro125Ser)SNV Uncertain significance 312270 rs770036022 13:48562837-48562837 13:47988702-47988702
21 SUCLA2 NM_003850.2(SUCLA2):c.272-2A>GSNV Uncertain significance 312271 rs565456094 13:48563118-48563118 13:47988983-47988983
22 SUCLA2 NM_003850.2(SUCLA2):c.-12T>GSNV Uncertain significance 312274 rs753085253 13:48575417-48575417 13:48001281-48001281
23 SUCLA2 NM_003850.2(SUCLA2):c.*431G>CSNV Uncertain significance 312256 rs886050257 13:48517075-48517075 13:47942940-47942940
24 SUCLA2 NM_003850.2(SUCLA2):c.*331C>ASNV Uncertain significance 312258 rs776688171 13:48517175-48517175 13:47943040-47943040
25 SUCLA2 NM_003850.2(SUCLA2):c.*220C>TSNV Uncertain significance 312261 rs184125665 13:48517286-48517286 13:47943151-47943151
26 SUCLA2 NM_003850.2(SUCLA2):c.517A>G (p.Met173Val)SNV Uncertain significance 312269 rs886050264 13:48562693-48562693 13:47988558-47988558
27 SUCLA2 NM_003850.2(SUCLA2):c.68C>G (p.Thr23Arg)SNV Uncertain significance 312272 rs538760468 13:48575338-48575338 13:48001202-48001202
28 SUCLA2 NM_003850.2(SUCLA2):c.-49C>GSNV Uncertain significance 312277 rs779622050 13:48575454-48575454 13:48001318-48001318
29 SUCLA2 NM_003850.2(SUCLA2):c.*468A>GSNV Uncertain significance 312255 rs886050256 13:48517038-48517038 13:47942903-47942903
30 SUCLA2 NM_003850.2(SUCLA2):c.817G>A (p.Ala273Thr)SNV Uncertain significance 312267 rs886050262 13:48528678-48528678 13:47954543-47954543
31 SUCLA2 NM_003850.2(SUCLA2):c.-48G>ASNV Uncertain significance 312276 rs774191261 13:48575453-48575453 13:48001317-48001317
32 SUCLA2 NM_003850.2(SUCLA2):c.617A>G (p.Glu206Gly)SNV Uncertain significance 203956 rs141647723 13:48547445-48547445 13:47973310-47973310
33 SUCLA2 NM_003850.2(SUCLA2):c.361A>G (p.Ile121Val)SNV Uncertain significance 663403 13:48563027-48563027 13:47988892-47988892
34 SUCLA2 NM_003850.2(SUCLA2):c.997G>C (p.Asp333His)SNV Uncertain significance 689473 13:48528385-48528385 13:47954250-47954250
35 SUCLA2 NM_003850.2(SUCLA2):c.274T>G (p.Ser92Ala)SNV Uncertain significance 537758 rs764915250 13:48563114-48563114 13:47988979-47988979
36 SUCLA2 NM_003850.3(SUCLA2):c.*435A>GSNV Uncertain significance 883330 13:48517071-48517071 13:47942936-47942936
37 SUCLA2 NM_003850.3(SUCLA2):c.*434T>GSNV Uncertain significance 883331 13:48517072-48517072 13:47942937-47942937
38 SUCLA2 NM_003850.3(SUCLA2):c.*391A>GSNV Uncertain significance 883332 13:48517115-48517115 13:47942980-47942980
39 SUCLA2 NM_003850.3(SUCLA2):c.*380C>TSNV Uncertain significance 880964 13:48517126-48517126 13:47942991-47942991
40 SUCLA2 NM_003850.3(SUCLA2):c.*319A>TSNV Uncertain significance 880965 13:48517187-48517187 13:47943052-47943052
41 SUCLA2 NM_003850.3(SUCLA2):c.*252C>TSNV Uncertain significance 880966 13:48517254-48517254 13:47943119-47943119
42 SUCLA2 NM_003850.3(SUCLA2):c.*184G>ASNV Uncertain significance 882326 13:48517322-48517322 13:47943187-47943187
43 SUCLA2 NM_003850.3(SUCLA2):c.1320T>C (p.Val440=)SNV Uncertain significance 882327 13:48517578-48517578 13:47943443-47943443
44 SUCLA2 NM_003850.3(SUCLA2):c.1043T>G (p.Val348Gly)SNV Uncertain significance 882595 13:48528339-48528339 13:47954204-47954204
45 SUCLA2 NM_003850.3(SUCLA2):c.240A>C (p.Pro80=)SNV Uncertain significance 881024 13:48571009-48571009 13:47996874-47996874
46 SUCLA2 NM_003850.3(SUCLA2):c.232A>C (p.Lys78Gln)SNV Uncertain significance 881025 13:48571017-48571017 13:47996882-47996882
47 SUCLA2 NM_003850.3(SUCLA2):c.36C>T (p.Ala12=)SNV Uncertain significance 882380 13:48575370-48575370 13:48001234-48001234
48 SUCLA2 NM_003850.3(SUCLA2):c.1318-15G>ASNV Uncertain significance 882328 13:48517595-48517595 13:47943460-47943460
49 SUCLA2 NM_003850.3(SUCLA2):c.803-4A>GSNV Uncertain significance 882596 13:48528696-48528696 13:47954561-47954561
50 SUCLA2 NM_003850.3(SUCLA2):c.664-12T>CSNV Uncertain significance 882597 13:48542880-48542880 13:47968745-47968745

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 5:

73
# Symbol AA change Variation ID SNP ID
1 SUCLA2 p.Gly118Arg VAR_046215 rs121908537
2 SUCLA2 p.Arg284Cys VAR_046216 rs121908538
3 SUCLA2 p.Asp251Asn VAR_070123 rs397515462

Expression for Mitochondrial Dna Depletion Syndrome 5

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 5.

Pathways for Mitochondrial Dna Depletion Syndrome 5

Pathways related to Mitochondrial Dna Depletion Syndrome 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 UQCRFS1 SUCLG2 SUCLG1 SUCLA2 MT-CO1 GPT
2
Show member pathways
12.94 UQCRFS1 SUCLG2 SUCLG1 SUCLA2 MT-CO1 CS
3
Show member pathways
11.74 SUCLG2 SUCLG1 SUCLA2 CS
4
Show member pathways
11.57 SUCLG2 SUCLG1 SUCLA2 CS
5
Show member pathways
11.42 SUCLG2 SUCLG1 SUCLA2 GPT CS ACADS
6 10.79 SUCLG2 SUCLG1 SUCLA2 ACADS
7
Show member pathways
10.65 SUCLG2 SUCLG1 SUCLA2

GO Terms for Mitochondrial Dna Depletion Syndrome 5

Cellular components related to Mitochondrial Dna Depletion Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.61 SUCLG2 SUCLG1 SUCLA2 RARS2 ETHE1 DGUOK
2 mitochondrion GO:0005739 9.47 UQCRFS1 TMEM70 SUCLG2 SUCLG1 SUCLA2 RARS2
3 mitochondrial respiratory chain complex III GO:0005750 9.32 UQCRFS1 MT-CO1
4 mitochondrial respiratory chain complex IV GO:0005751 9.26 UQCRFS1 MT-CO1
5 succinate-CoA ligase complex GO:0042709 9.16 SUCLG2 SUCLA2

Biological processes related to Mitochondrial Dna Depletion Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 succinate metabolic process GO:0006105 9.33 SUCLG2 SUCLG1 SUCLA2
2 tricarboxylic acid cycle GO:0006099 9.26 SUCLG2 SUCLG1 SUCLA2 CS
3 succinyl-CoA metabolic process GO:0006104 8.8 SUCLG2 SUCLG1 SUCLA2

Molecular functions related to Mitochondrial Dna Depletion Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.92 SUCLG2 SUCLG1 SUCLA2 RARS2 FGFR3 ENTPD2
2 ATP binding GO:0005524 9.91 SUCLG2 SUCLA2 RARS2 FGFR3 ENTPD2 DGUOK
3 ligase activity GO:0016874 9.55 SUCLG2 SUCLG1 SUCLA2 RARS2 DARS2
4 succinate-CoA ligase activity GO:0004774 9.26 SUCLG2 SUCLG1
5 succinate-CoA ligase (GDP-forming) activity GO:0004776 9.13 SUCLG2 SUCLG1 SUCLA2
6 succinate-CoA ligase (ADP-forming) activity GO:0004775 8.8 SUCLG2 SUCLG1 SUCLA2

Sources for Mitochondrial Dna Depletion Syndrome 5

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
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
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
Content
Loading form....