MTDPS16
MCID: MTC182
MIFTS: 21

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 56 6
Mtdps16 56 73
Mitochondrial Dna Depletion Syndrome 16, Hepatic Type 73

Characteristics:

OMIM:

56
Miscellaneous:
death in infancy
onset in the neonatal period
one patient has been reported (last curated august 2019)

Inheritance:
autosomal recessive


HPO:

31
mitochondrial dna depletion syndrome 16:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 16

UniProtKB/Swiss-Prot : 73 Mitochondrial DNA depletion syndrome 16, hepatic type: An autosomal recessive disorder characterized by poor feeding, difficulty breathing, abdominal distention, an abnormal carnitine profile, metabolic acidosis and hepatic failure in the neonatal period. Severe mtDNA depletion is observed in liver and muscle biopsies.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 16, also known as mtdps16, is related to mitochondrial dna depletion syndrome and autosomal dominant progressive external ophthalmoplegia. An important gene associated with Mitochondrial Dna Depletion Syndrome 16 is POLG2 (DNA Polymerase Gamma 2, Accessory Subunit). Affiliated tissues include liver, and related phenotypes are hepatomegaly and feeding difficulties

More information from OMIM: 618528 PS603041

Related Diseases for Mitochondrial Dna Depletion Syndrome 16

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 16

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 16:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 HP:0002240
2 feeding difficulties 31 HP:0011968
3 elevated hepatic transaminase 31 HP:0002910
4 jaundice 31 HP:0000952
5 increased serum lactate 31 HP:0002151
6 hepatic failure 31 HP:0001399
7 hypoplasia of the corpus callosum 31 HP:0002079
8 metabolic acidosis 31 HP:0001942
9 abdominal distention 31 HP:0003270
10 abnormal mitochondrial morphology 31 HP:0008322
11 increased total bilirubin 31 HP:0003573

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
30157269 2018
2
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion. 56 6
27592148 2016

Variations for Mitochondrial Dna Depletion Syndrome 16

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 16:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLG2 NM_007215.4(POLG2):c.544C>T (p.Arg182Trp)SNV Likely pathogenic 252958 rs886037843 17:62492543-62492543 17:64496425-64496425

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 16:

73
# Symbol AA change Variation ID SNP ID
1 POLG2 p.Arg182Trp VAR_078773 rs886037843

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 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
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