MCID: MTC059
MIFTS: 28

Mitochondrial Dna Depletion Syndrome 5

Categories: Genetic diseases, Neuronal diseases, Metabolic 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 57 12 75 29 13 6 15 73
Mtdps5 57 75
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related 57
Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form with or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related 75
Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic with or Without Methylmalonic Aciduria 75
Encephalomyopathic Mitochondrial Dna Depletion Syndrome with or Without Methylmalonic Aciduria 75
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 59
Mtdna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 59
Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome 59
Mitochondrial Dna Depletion Syndrome, Type 5 40
Booth-Haworth-Dilling Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
mitochondrial dna depletion syndrome 5:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 5

OMIM : 57 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)

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 5, also known as mtdps5, is related to suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria and sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, and has symptoms including athetosis, muscle spasticity and ophthalmoplegia. An important gene associated with Mitochondrial Dna Depletion Syndrome 5 is SUCLA2 (Succinate-CoA Ligase ADP-Forming Beta Subunit). Affiliated tissues include skeletal muscle, and related phenotypes are ptosis and seizures

UniProtKB/Swiss-Prot : 75 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 related to Mitochondrial Dna Depletion Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.8
2 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.6
3 encephalomyopathy 11.6
4 mohr-tranebjaerg syndrome 11.5

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 5

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
strabismus
ophthalmoplegia

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

Metabolic Features:
lactic acidosis

Abdomen Gastrointestinal:
poor feeding

Laboratory Abnormalities:
increased serum creatine kinase
methylmalonic aciduria, mild
increased serum and csf lactate
methylglutaconic aciduria, mild
increased urinary carnitine esters
more
Neurologic Central Nervous System:
seizures
spasticity
dystonia
hyporeflexia
cerebral atrophy
more
Growth Other:
failure to thrive

Neurologic Behavioral Psychiatric Manifestations:
irritability
crying, inconsolable

Head And Neck Face:
facial diplegia

Head And Neck Ears:
hearing loss, sensorineural

Neurologic Peripheral Nervous System:
peripheral neuropathy, axonal and demyelinating


Clinical features from OMIM:

612073

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 5:

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
4 cerebral calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0002514
5 behavioral abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000708
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
8 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
9 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 abnormality of visual evoked potentials 59 32 hallmark (90%) Very frequent (99-80%) HP:0000649
12 aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003355
13 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
14 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
15 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
16 decreased nerve conduction velocity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000762
17 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
18 ventriculomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002119
19 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
20 intellectual disability, progressive 59 32 hallmark (90%) Very frequent (99-80%) HP:0006887
21 hyporeflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001265
22 delayed gross motor development 59 32 hallmark (90%) Very frequent (99-80%) HP:0002194
23 methylmalonic aciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0012120
24 muscular hypotonia 32 HP:0001252
25 spasticity 32 HP:0001257
26 failure to thrive 32 HP:0001508
27 feeding difficulties in infancy 32 HP:0008872
28 respiratory insufficiency due to muscle weakness 32 HP:0002747
29 irritability 32 HP:0000737
30 peripheral neuropathy 32 HP:0009830
31 strabismus 32 HP:0000486
32 dystonia 32 HP:0001332
33 lactic acidosis 32 HP:0003128
34 progressive encephalopathy 32 HP:0002448
35 ophthalmoplegia 32 HP:0000602
36 cerebral atrophy 32 HP:0002059
37 athetosis 32 HP:0002305
38 generalized hypotonia 32 HP:0001290
39 abnormality of the basal ganglia 32 HP:0002134
40 decreased activity of mitochondrial respiratory chain 32 HP:0008972
41 loss of ability to walk in early childhood 32 HP:0008945
42 facial diplegia 32 HP:0001349
43 methylmalonic acidemia 32 HP:0002912

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 5:


athetosis, muscle spasticity, ophthalmoplegia, seizures, muscle weakness

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 5

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

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:

41
Skeletal Muscle

Publications for Mitochondrial Dna Depletion Syndrome 5

Articles related to Mitochondrial Dna Depletion Syndrome 5:

# Title Authors Year
1
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria ( 28358460 )
1993

Variations for Mitochondrial Dna Depletion Syndrome 5

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

75
# 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

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 5:

6
(show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 SUCLA2 SUCLA2, 43-BP DEL AND 5-BP INS indel Pathogenic
2 SUCLA2 NM_003850.2(SUCLA2): c.534+1G> A single nucleotide variant Pathogenic rs113994161 GRCh37 Chromosome 13, 48562675: 48562675
3 SUCLA2 NM_003850.2(SUCLA2): c.534+1G> A single nucleotide variant Pathogenic rs113994161 GRCh38 Chromosome 13, 47988540: 47988540
4 SUCLA2 NM_003850.2(SUCLA2): c.352G> A (p.Gly118Arg) single nucleotide variant Pathogenic rs121908537 GRCh37 Chromosome 13, 48563036: 48563036
5 SUCLA2 NM_003850.2(SUCLA2): c.352G> A (p.Gly118Arg) single nucleotide variant Pathogenic rs121908537 GRCh38 Chromosome 13, 47988901: 47988901
6 SUCLA2 NM_003850.2(SUCLA2): c.850C> T (p.Arg284Cys) single nucleotide variant Pathogenic rs121908538 GRCh37 Chromosome 13, 48528645: 48528645
7 SUCLA2 NM_003850.2(SUCLA2): c.850C> T (p.Arg284Cys) single nucleotide variant Pathogenic rs121908538 GRCh38 Chromosome 13, 47954510: 47954510
8 SUCLA2 NM_003850.2(SUCLA2): c.751G> A (p.Asp251Asn) single nucleotide variant Pathogenic rs397515462 GRCh37 Chromosome 13, 48542781: 48542781
9 SUCLA2 NM_003850.2(SUCLA2): c.751G> A (p.Asp251Asn) single nucleotide variant Pathogenic rs397515462 GRCh38 Chromosome 13, 47968646: 47968646
10 SUCLA2 NM_003850.2(SUCLA2): c.236C> T (p.Ser79Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142289138 GRCh37 Chromosome 13, 48571013: 48571013
11 SUCLA2 NM_003850.2(SUCLA2): c.236C> T (p.Ser79Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142289138 GRCh38 Chromosome 13, 47996878: 47996878
12 SUCLA2 NM_003850.2(SUCLA2): c.815A> T (p.Asp272Val) single nucleotide variant Pathogenic GRCh38 Chromosome 13, 47954545: 47954545
13 SUCLA2 NM_003850.2(SUCLA2): c.815A> T (p.Asp272Val) single nucleotide variant Pathogenic GRCh37 Chromosome 13, 48528680: 48528680
14 SUCLA2 NM_003850.2(SUCLA2): c.274T> G (p.Ser92Ala) single nucleotide variant Uncertain significance rs764915250 GRCh38 Chromosome 13, 47988979: 47988979
15 SUCLA2 NM_003850.2(SUCLA2): c.274T> G (p.Ser92Ala) single nucleotide variant Uncertain significance rs764915250 GRCh37 Chromosome 13, 48563114: 48563114
16 SUCLA2 NM_003850.2(SUCLA2): c.78G> A (p.Arg26=) single nucleotide variant Likely benign GRCh38 Chromosome 13, 48001192: 48001192
17 SUCLA2 NM_003850.2(SUCLA2): c.78G> A (p.Arg26=) single nucleotide variant Likely benign GRCh37 Chromosome 13, 48575328: 48575328

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

GO Terms for Mitochondrial Dna Depletion Syndrome 5

Sources for Mitochondrial Dna Depletion Syndrome 5

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