MCID: MTC055
MIFTS: 26

Mitochondrial Dna Depletion Syndrome 4b

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 4b

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 4b:

Name: Mitochondrial Dna Depletion Syndrome 4b 57 12 75 13 73
Mitochondrial Dna Depletion Syndrome 4b, Mngie Type 29 6
Mtdps4b 57 75
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related 57
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related 75
Mitochondrial Dna Depletion Syndrome 4b Mngie Type 75
Mitochondrial Dna Depletion Syndrome, Type 4b 40
Mngie, Polg-Related 57
Mngie Polg-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in infancy or late childhood
some phenotypic overlap with alpers syndrome (mtdps4a, )


HPO:

32
mitochondrial dna depletion syndrome 4b:
Onset and clinical course variable expressivity infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 4b

OMIM : 57 Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). (613662)

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 4b, also known as mitochondrial dna depletion syndrome 4b, mngie type, is related to myoclonic epilepsy myopathy sensory ataxia and camptocormism, and has symptoms including abdominal pain, ataxia and chronic constipation. An important gene associated with Mitochondrial Dna Depletion Syndrome 4b is POLG (DNA Polymerase Gamma, Catalytic Subunit). Related phenotypes are seizures and ataxia

UniProtKB/Swiss-Prot : 75 Mitochondrial DNA depletion syndrome 4B: An autosomal recessive progressive multisystem disorder due to mitochondrial dysfunction. It is clinically characterized by chronic gastrointestinal dysmotility and pseudo-obstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness.

Related Diseases for Mitochondrial Dna Depletion Syndrome 4b

Diseases related to Mitochondrial Dna Depletion Syndrome 4b via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy myopathy sensory ataxia 9.2 MIR6766 POLG
2 camptocormism 9.1 MIR6766 POLG
3 mitochondrial dna depletion syndrome 1 8.9 MIR6766 POLG
4 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 8.7 FANCI MIR6766 POLG
5 autosomal dominant progressive external ophthalmoplegia 8.7 FANCI MIR6766 POLG

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 4b:



Diseases related to Mitochondrial Dna Depletion Syndrome 4b

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 4b

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
developmental delay (in some)
seizures (in some)
white matter abnormalities (in some)

Muscle Soft Tissue:
mitochondrial myopathy
hypotonia
muscle weakness, diffuse
ragged red fibers seen on muscle biopsy
multiple mitochondrial dna (mtdna) deletions seen on muscle biopsy
more
Growth Other:
thin body habitus
marked cachexia

Growth Weight:
weight loss, progressive

Abdomen Liver:
some patients may have hepatic dysfunction

Abdomen Gastrointestinal:
malabsorption
abdominal pain
abdominal distention
gastrointestinal dysmotility
constipation, chronic
more
Neurologic Peripheral Nervous System:
sensory ataxic neuropathy

Head And Neck Eyes:
external ophthalmoplegia, progressive (peo)

Head And Neck Ears:
hearing loss (1 patient)


Clinical features from OMIM:

613662

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 4b:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 seizures 32 occasional (7.5%) HP:0001250
2 ataxia 32 HP:0001251
3 constipation 32 HP:0002019
4 hearing impairment 32 occasional (7.5%) HP:0000365
5 global developmental delay 32 occasional (7.5%) HP:0001263
6 malabsorption 32 HP:0002024
7 generalized muscle weakness 32 HP:0003324
8 abdominal pain 32 HP:0002027
9 mitochondrial myopathy 32 HP:0003737
10 cachexia 32 HP:0004326
11 progressive external ophthalmoplegia 32 HP:0000590
12 abdominal distention 32 HP:0003270
13 sensory ataxic neuropathy 32 HP:0003434
14 generalized hypotonia 32 HP:0001290
15 abnormality of the cerebral white matter 32 occasional (7.5%) HP:0002500
16 malnutrition 32 HP:0004395
17 gastrointestinal dysmotility 32 HP:0002579

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 4b:


abdominal pain, ataxia, chronic constipation, generalized muscle weakness

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 4b

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 4b

Genetic Tests for Mitochondrial Dna Depletion Syndrome 4b

Genetic tests related to Mitochondrial Dna Depletion Syndrome 4b:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 4b, Mngie Type 29 POLG

Anatomical Context for Mitochondrial Dna Depletion Syndrome 4b

Publications for Mitochondrial Dna Depletion Syndrome 4b

Variations for Mitochondrial Dna Depletion Syndrome 4b

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 4b:

75
# Symbol AA change Variation ID SNP ID
1 POLG p.Arg227Trp VAR_023663 rs121918056
2 POLG p.Thr251Ile VAR_023664 rs113994094
3 POLG p.Pro587Leu VAR_023671 rs113994096
4 POLG p.Gly848Ser VAR_023675 rs113994098
5 POLG p.Asn864Ser VAR_023676 rs121918050

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 4b:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic rs113994095 GRCh37 Chromosome 15, 89870432: 89870432
2 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic rs113994095 GRCh38 Chromosome 15, 89327201: 89327201
3 POLG NM_002693.2(POLG): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic rs113994098 GRCh37 Chromosome 15, 89865023: 89865023
4 POLG NM_002693.2(POLG): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic rs113994098 GRCh38 Chromosome 15, 89321792: 89321792
5 POLG NM_002693.2(POLG): c.2591A> G (p.Asn864Ser) single nucleotide variant Pathogenic rs121918050 GRCh37 Chromosome 15, 89864974: 89864974
6 POLG NM_002693.2(POLG): c.2591A> G (p.Asn864Ser) single nucleotide variant Pathogenic rs121918050 GRCh38 Chromosome 15, 89321743: 89321743
7 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121918054 GRCh37 Chromosome 15, 89866691: 89866691
8 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121918054 GRCh38 Chromosome 15, 89323460: 89323460
9 POLG NM_002693.2(POLG): c.679C> T (p.Arg227Trp) single nucleotide variant Pathogenic rs121918056 GRCh37 Chromosome 15, 89873488: 89873488
10 POLG NM_002693.2(POLG): c.679C> T (p.Arg227Trp) single nucleotide variant Pathogenic rs121918056 GRCh38 Chromosome 15, 89330257: 89330257
11 POLG NM_002693.2(POLG): c.3218C> T (p.Pro1073Leu) single nucleotide variant Pathogenic rs267606959 GRCh37 Chromosome 15, 89862217: 89862217
12 POLG NM_002693.2(POLG): c.3218C> T (p.Pro1073Leu) single nucleotide variant Pathogenic rs267606959 GRCh38 Chromosome 15, 89318986: 89318986
13 POLG NM_002693.2(POLG): c.1174C> G (p.Leu392Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145289229 GRCh37 Chromosome 15, 89871763: 89871763
14 POLG NM_002693.2(POLG): c.1174C> G (p.Leu392Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145289229 GRCh38 Chromosome 15, 89328532: 89328532
15 POLG NM_002693.2(POLG): c.2890C> T (p.Arg964Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201477273 GRCh37 Chromosome 15, 89864088: 89864088
16 POLG NM_002693.2(POLG): c.2890C> T (p.Arg964Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201477273 GRCh38 Chromosome 15, 89320857: 89320857
17 POLG NM_002693.2(POLG): c.2207A> G (p.Asn736Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138457939 GRCh38 Chromosome 15, 89323462: 89323462
18 POLG NM_002693.2(POLG): c.2207A> G (p.Asn736Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138457939 GRCh37 Chromosome 15, 89866693: 89866693
19 POLG NM_002693.2(POLG): c.3612_3613insAACT (p.Gly1205Asnfs) insertion Pathogenic rs886043241 GRCh37 Chromosome 15, 89860637: 89860638
20 POLG NM_002693.2(POLG): c.3612_3613insAACT (p.Gly1205Asnfs) insertion Pathogenic rs886043241 GRCh38 Chromosome 15, 89317406: 89317407
21 POLG NM_002693.2(POLG): c.13C> T (p.Leu5Phe) single nucleotide variant Uncertain significance rs761648850 GRCh38 Chromosome 15, 89333742: 89333742
22 POLG NM_002693.2(POLG): c.13C> T (p.Leu5Phe) single nucleotide variant Uncertain significance rs761648850 GRCh37 Chromosome 15, 89876973: 89876973

Expression for Mitochondrial Dna Depletion Syndrome 4b

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 4b.

Pathways for Mitochondrial Dna Depletion Syndrome 4b

GO Terms for Mitochondrial Dna Depletion Syndrome 4b

Sources for Mitochondrial Dna Depletion Syndrome 4b

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