MTDPS16
MCID: MTC182
MIFTS: 16

Mitochondrial Dna Depletion Syndrome 16 (MTDPS16)

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 16

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 16:

Name: Mitochondrial Dna Depletion Syndrome 16 57 6
Mtdps16 57

Characteristics:

OMIM:

57
Miscellaneous:
death in infancy
onset in the neonatal period
one patient has been reported (last curated august 2019)

Inheritance:
autosomal recessive


Classifications:



External Ids:

Summaries for Mitochondrial Dna Depletion Syndrome 16

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 16, is also known as mtdps16. An important gene associated with Mitochondrial Dna Depletion Syndrome 16 is POLG2 (DNA Polymerase Gamma 2, Accessory Subunit). Affiliated tissues include liver.

More information from OMIM: 618528 PS603041

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 16

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatomegaly
hepatic failure
cholestasis
abnormal mitochondrial morphology
microvesicular steatosis seen on liver biopsy
more
Laboratory Abnormalities:
increased serum lactate
abnormal liver enzymes
increased bilirubin
increased bile acids
decreased albumin
more
Abdomen External Features:
abdominal distention

Neurologic Central Nervous System:
thin corpus callosum

Skin Nails Hair Skin:
jaundice

Metabolic Features:
metabolic acidosis

Abdomen Gastrointestinal:
poor feeding

Hematology:
coagulation defects secondary to liver dysfunction

Clinical features from OMIM:

618528

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 16

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 16

Genetic Tests for Mitochondrial Dna Depletion Syndrome 16

Anatomical Context for Mitochondrial Dna Depletion Syndrome 16

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 16:

41
Liver

Publications for Mitochondrial Dna Depletion Syndrome 16

Articles related to Mitochondrial Dna Depletion Syndrome 16:

# Title Authors PMID Year
1
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. 8
30157269 2018
2
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion. 8
27592148 2016

Variations for Mitochondrial Dna Depletion Syndrome 16

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 16:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 POLG2 NM_007215.4: c.544C> T single nucleotide variant Pathogenic

Expression for Mitochondrial Dna Depletion Syndrome 16

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 16.

Pathways for Mitochondrial Dna Depletion Syndrome 16

GO Terms for Mitochondrial Dna Depletion Syndrome 16

Sources for Mitochondrial Dna Depletion Syndrome 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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