MCID: MTC060
MIFTS: 32

Mitochondrial Dna Depletion Syndrome 9

Categories: Genetic diseases, Neuronal diseases, Metabolic 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 57 12 75 29 13 6 73
Mtdps9 57 75
Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type with Methylmalonic Aciduria 75
Fatal Infantile Lactic Acidosis with Methylmalonic Aciduria 59
Mitochondrial Dna Depletion Syndrome, Type 9 40
Lactic Acidosis, Fatal Infantile, Formerly 57
Lactic Acidosis, Fatal Infantile 73
Fatal Infantile Lactic Acidosis 75

Characteristics:

Orphanet epidemiological data:

59
fatal infantile lactic acidosis with methylmalonic aciduria
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mitochondrial dna depletion syndrome 9:
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 9

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)

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 9, also known as mtdps9, is related to lactic acidosis and mitochondrial complex iv deficiency. An important gene associated with Mitochondrial Dna Depletion Syndrome 9 is SUCLG1 (Succinate-CoA Ligase Alpha Subunit), and among its related pathways/superpathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include skin, brain and skeletal muscle, and related phenotypes are hyperhidrosis and intellectual disability

UniProtKB/Swiss-Prot : 75 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 related to Mitochondrial Dna Depletion Syndrome 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lactic acidosis 10.3
2 mitochondrial complex iv deficiency 10.0
3 mitochondrial complex i deficiency 10.0
4 myopathy 10.0
5 encephalopathy 10.0

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

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperhidrosis

Respiratory:
respiratory insufficiency
respiratory failure

Abdomen Gastrointestinal:
feeding difficulties

Laboratory Abnormalities:
methylmalonic aciduria
increased lactate in spinal fluid

Head And Neck Ears:
hearing impairment (rare)

Growth Other:
failure to thrive
poor growth

Metabolic Features:
hypoglycemia
lactic acidosis

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

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

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 9:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 HP:0000975
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 ataxia 32 HP:0001251
5 muscular hypotonia 32 HP:0001252
6 failure to thrive 32 HP:0001508
7 hearing impairment 32 occasional (7.5%) HP:0000365
8 global developmental delay 32 HP:0001263
9 hypophosphatemia 32 HP:0002148
10 intellectual disability, severe 32 HP:0010864
11 hypoglycemia 32 HP:0001943
12 skeletal muscle atrophy 32 HP:0003202
13 feeding difficulties 32 HP:0011968
14 growth delay 32 HP:0001510
15 lactic acidosis 32 HP:0003128
16 respiratory failure 32 HP:0002878
17 encephalopathy 32 HP:0001298
18 abnormality of the skin 32 HP:0000951
19 cerebral atrophy 32 HP:0002059
20 methylmalonic aciduria 32 HP:0012120
21 unsteady gait 32 HP:0002317
22 poor motor coordination 32 HP:0002275
23 intermittent hyperpnea at rest 32 HP:0005941
24 renal aminoaciduria 32 HP:0008335

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:

41
Skin, Brain, Skeletal Muscle

Publications for Mitochondrial Dna Depletion Syndrome 9

Articles related to Mitochondrial Dna Depletion Syndrome 9:

# Title Authors Year
1
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. ( 25293719 )
2014
2
Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder. ( 21093335 )
2011
3
Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. ( 17668387 )
2007
4
Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. ( 16492986 )
2006
5
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. ( 10393702 )
1999
6
Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy. ( 3110216 )
1987

Variations for Mitochondrial Dna Depletion Syndrome 9

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

75
# Symbol AA change Variation ID SNP ID
1 SUCLG1 p.Met14Leu VAR_065120
2 SUCLG1 p.Pro170Arg VAR_065121 rs267607099
3 SUCLG1 p.Gly85Ala VAR_065157 rs267607097

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 9:

6
(show top 50) (show all 71)
# Gene Variation Type Significance SNP ID Assembly Location
1 SUCLG1 SUCLG1, 2-BP DEL, 113AT deletion Pathogenic
2 SUCLG1 NM_003849.3(SUCLG1): c.254G> C (p.Gly85Ala) single nucleotide variant Pathogenic rs267607097 GRCh37 Chromosome 2, 84670472: 84670472
3 SUCLG1 NM_003849.3(SUCLG1): c.254G> C (p.Gly85Ala) single nucleotide variant Pathogenic rs267607097 GRCh38 Chromosome 2, 84443348: 84443348
4 SUCLG1 NM_003849.3(SUCLG1): c.509C> G (p.Pro170Arg) single nucleotide variant Pathogenic rs267607099 GRCh37 Chromosome 2, 84668393: 84668393
5 SUCLG1 NM_003849.3(SUCLG1): c.509C> G (p.Pro170Arg) single nucleotide variant Pathogenic rs267607099 GRCh38 Chromosome 2, 84441269: 84441269
6 SUCLG1 NM_003849.3(SUCLG1): c.97+3G> C single nucleotide variant Pathogenic rs786205871 GRCh37 Chromosome 2, 84686294: 84686294
7 SUCLG1 NM_003849.3(SUCLG1): c.97+3G> C single nucleotide variant Pathogenic rs786205871 GRCh38 Chromosome 2, 84459170: 84459170
8 SUCLG1 NM_003849.3(SUCLG1): c.448C> T (p.Gln150Ter) single nucleotide variant Pathogenic rs267607098 GRCh37 Chromosome 2, 84668454: 84668454
9 SUCLG1 NM_003849.3(SUCLG1): c.448C> T (p.Gln150Ter) single nucleotide variant Pathogenic rs267607098 GRCh38 Chromosome 2, 84441330: 84441330
10 SUCLG1 NM_003849.3(SUCLG1): c.900C> T (p.Ala300=) single nucleotide variant Conflicting interpretations of pathogenicity rs113840224 GRCh37 Chromosome 2, 84652653: 84652653
11 SUCLG1 NM_003849.3(SUCLG1): c.900C> T (p.Ala300=) single nucleotide variant Conflicting interpretations of pathogenicity rs113840224 GRCh38 Chromosome 2, 84425529: 84425529
12 SUCLG1 NM_003849.3(SUCLG1): c.341C> T (p.Thr114Met) single nucleotide variant Uncertain significance rs201224138 GRCh37 Chromosome 2, 84668561: 84668561
13 SUCLG1 NM_003849.3(SUCLG1): c.341C> T (p.Thr114Met) single nucleotide variant Uncertain significance rs201224138 GRCh38 Chromosome 2, 84441437: 84441437
14 SUCLG1 NM_003849.3(SUCLG1): c.236G> A (p.Gly79Asp) single nucleotide variant Uncertain significance rs143030960 GRCh38 Chromosome 2, 84443366: 84443366
15 SUCLG1 NM_003849.3(SUCLG1): c.236G> A (p.Gly79Asp) single nucleotide variant Uncertain significance rs143030960 GRCh37 Chromosome 2, 84670490: 84670490
16 SUCLG1 NM_003849.3(SUCLG1): c.110G> C (p.Gly37Ala) single nucleotide variant Uncertain significance rs369610897 GRCh37 Chromosome 2, 84676864: 84676864
17 SUCLG1 NM_003849.3(SUCLG1): c.110G> C (p.Gly37Ala) single nucleotide variant Uncertain significance rs369610897 GRCh38 Chromosome 2, 84449740: 84449740
18 SUCLG1 NM_003849.3(SUCLG1): c.507delG (p.Asn171Thrfs) deletion Pathogenic rs797046017 GRCh37 Chromosome 2, 84668395: 84668395
19 SUCLG1 NM_003849.3(SUCLG1): c.507delG (p.Asn171Thrfs) deletion Pathogenic rs797046017 GRCh38 Chromosome 2, 84441271: 84441271
20 SUCLG1 NM_003849.3(SUCLG1): c.*218A> G single nucleotide variant Uncertain significance rs570310549 GRCh37 Chromosome 2, 84650652: 84650652
21 SUCLG1 NM_003849.3(SUCLG1): c.*218A> G single nucleotide variant Uncertain significance rs570310549 GRCh38 Chromosome 2, 84423528: 84423528
22 SUCLG1 NM_003849.3(SUCLG1): c.395C> G (p.Ala132Gly) single nucleotide variant Uncertain significance rs376171433 GRCh38 Chromosome 2, 84441383: 84441383
23 SUCLG1 NM_003849.3(SUCLG1): c.395C> G (p.Ala132Gly) single nucleotide variant Uncertain significance rs376171433 GRCh37 Chromosome 2, 84668507: 84668507
24 SUCLG1 NM_003849.3(SUCLG1): c.98-10_98-8delAAC deletion Uncertain significance rs886056350 GRCh37 Chromosome 2, 84676884: 84676886
25 SUCLG1 NM_003849.3(SUCLG1): c.98-10_98-8delAAC deletion Uncertain significance rs886056350 GRCh38 Chromosome 2, 84449760: 84449762
26 SUCLG1 NM_003849.3(SUCLG1): c.-39C> A single nucleotide variant Uncertain significance rs144946502 GRCh38 Chromosome 2, 84459308: 84459308
27 SUCLG1 NM_003849.3(SUCLG1): c.-39C> A single nucleotide variant Uncertain significance rs144946502 GRCh37 Chromosome 2, 84686432: 84686432
28 SUCLG1 NM_003849.3(SUCLG1): c.-133C> T single nucleotide variant Likely benign rs12621740 GRCh38 Chromosome 2, 84459402: 84459402
29 SUCLG1 NM_003849.3(SUCLG1): c.-133C> T single nucleotide variant Likely benign rs12621740 GRCh37 Chromosome 2, 84686526: 84686526
30 SUCLG1 NM_003849.3(SUCLG1): c.*207A> G single nucleotide variant Likely benign rs73942653 GRCh37 Chromosome 2, 84650663: 84650663
31 SUCLG1 NM_003849.3(SUCLG1): c.*207A> G single nucleotide variant Likely benign rs73942653 GRCh38 Chromosome 2, 84423539: 84423539
32 SUCLG1 NM_003849.3(SUCLG1): c.*55G> C single nucleotide variant Likely benign rs80166442 GRCh37 Chromosome 2, 84650815: 84650815
33 SUCLG1 NM_003849.3(SUCLG1): c.*55G> C single nucleotide variant Likely benign rs80166442 GRCh38 Chromosome 2, 84423691: 84423691
34 SUCLG1 NM_003849.3(SUCLG1): c.*13delA deletion Uncertain significance rs527774382 GRCh37 Chromosome 2, 84650857: 84650857
35 SUCLG1 NM_003849.3(SUCLG1): c.*13delA deletion Uncertain significance rs527774382 GRCh38 Chromosome 2, 84423733: 84423733
36 SUCLG1 NM_003849.3(SUCLG1): c.590-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200107730 GRCh37 Chromosome 2, 84660565: 84660565
37 SUCLG1 NM_003849.3(SUCLG1): c.590-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200107730 GRCh38 Chromosome 2, 84433441: 84433441
38 SUCLG1 NM_003849.3(SUCLG1): c.345T> C (p.Ala115=) single nucleotide variant Conflicting interpretations of pathogenicity rs374594774 GRCh38 Chromosome 2, 84441433: 84441433
39 SUCLG1 NM_003849.3(SUCLG1): c.345T> C (p.Ala115=) single nucleotide variant Conflicting interpretations of pathogenicity rs374594774 GRCh37 Chromosome 2, 84668557: 84668557
40 SUCLG1 NM_003849.3(SUCLG1): c.-39C> G single nucleotide variant Conflicting interpretations of pathogenicity rs144946502 GRCh38 Chromosome 2, 84459308: 84459308
41 SUCLG1 NM_003849.3(SUCLG1): c.-39C> G single nucleotide variant Conflicting interpretations of pathogenicity rs144946502 GRCh37 Chromosome 2, 84686432: 84686432
42 SUCLG1 NM_003849.3(SUCLG1): c.1028G> C (p.Arg343Thr) single nucleotide variant Uncertain significance rs748995693 GRCh37 Chromosome 2, 84650883: 84650883
43 SUCLG1 NM_003849.3(SUCLG1): c.1028G> C (p.Arg343Thr) single nucleotide variant Uncertain significance rs748995693 GRCh38 Chromosome 2, 84423759: 84423759
44 SUCLG1 NM_003849.3(SUCLG1): c.201+8T> A single nucleotide variant Uncertain significance rs764185628 GRCh38 Chromosome 2, 84449641: 84449641
45 SUCLG1 NM_003849.3(SUCLG1): c.201+8T> A single nucleotide variant Uncertain significance rs764185628 GRCh37 Chromosome 2, 84676765: 84676765
46 SUCLG1 NM_003849.3(SUCLG1): c.98-13_98-11delTTT deletion Benign rs886056351 GRCh38 Chromosome 2, 84449763: 84449765
47 SUCLG1 NM_003849.3(SUCLG1): c.98-13_98-11delTTT deletion Benign rs886056351 GRCh37 Chromosome 2, 84676887: 84676889
48 SUCLG1 NM_003849.3(SUCLG1): c.98-15_98-14insAACC insertion Uncertain significance rs886056352 GRCh37 Chromosome 2, 84676890: 84676891
49 SUCLG1 NM_003849.3(SUCLG1): c.98-15_98-14insAACC insertion Uncertain significance rs886056352 GRCh38 Chromosome 2, 84449766: 84449767
50 SUCLG1 NM_003849.3(SUCLG1): c.-71G> T single nucleotide variant Uncertain significance rs886056353 GRCh38 Chromosome 2, 84459340: 84459340

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

Sources for Mitochondrial Dna Depletion Syndrome 9

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