MCID: MTC129
MIFTS: 19

Mitochondrial Dna Depletion Syndrome 15

Categories: Genetic diseases, Liver diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 15

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 15:

Name: Mitochondrial Dna Depletion Syndrome 15 57 75 29 6
Mtdps15 57 75
Mitochondrial Dna Depletion Syndrome 15, Hepatocerebral Type 75

Characteristics:

OMIM:

57
Miscellaneous:
death in infancy
progressive disorder
onset at birth
two sibs, born of consanguineous parents, have been reported (last curated october 2016)

Inheritance:
autosomal recessive


HPO:

32
mitochondrial dna depletion syndrome 15:
Mortality/Aging death in infancy
Onset and clinical course congenital onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 15

UniProtKB/Swiss-Prot : 75 Mitochondrial DNA depletion syndrome 15, hepatocerebral type: An autosomal recessive mitochondrial disorder characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle. Hepatic pathology includes cirrhosis, steatosis and cholestasis. Progression to liver failure and death is rapid with no evidence of neurological impairment or other organ involvement.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 15, is also known as mtdps15. An important gene associated with Mitochondrial Dna Depletion Syndrome 15 is TFAM (Transcription Factor A, Mitochondrial). Affiliated tissues include liver and skeletal muscle, and related phenotypes are jaundice and cirrhosis

Description from OMIM: 617156

Related Diseases for Mitochondrial Dna Depletion Syndrome 15

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 15

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
intrauterine growth retardation

Abdomen:
ascites

Skin Nails Hair Skin:
jaundice

Muscle Soft Tissue:
mitochondrial proliferation
abnormal mitochondria
mtdna depletion
sarcoplasmic abnormalities
respiratory chain dysfunction

Laboratory Abnormalities:
hypoglycemia
abnormal liver enzymes
abnormal urinary organic acids
hypoalbuminemia hyperbilirubinemia
increased plasma tyrosine
more
Abdomen Liver:
cirrhosis
cholestasis
microvesicular steatosis
liver failure, progressive
mitochondrial pleomorphism
more
Hematology:
coagulopathy


Clinical features from OMIM:

617156

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 15:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 jaundice 32 HP:0000952
2 cirrhosis 32 HP:0001394
3 hepatic failure 32 HP:0001399
4 microvesicular hepatic steatosis 32 HP:0001414
5 failure to thrive 32 HP:0001508
6 intrauterine growth retardation 32 HP:0001511
7 ascites 32 HP:0001541
8 hypoglycemia 32 HP:0001943
9 elevated hepatic transaminases 32 HP:0002910
10 abnormality of the coagulation cascade 32 HP:0003256

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 15

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 15

Genetic Tests for Mitochondrial Dna Depletion Syndrome 15

Genetic tests related to Mitochondrial Dna Depletion Syndrome 15:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 15 (hepatocerebral Type) 29 TFAM

Anatomical Context for Mitochondrial Dna Depletion Syndrome 15

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 15:

41
Liver, Skeletal Muscle

Publications for Mitochondrial Dna Depletion Syndrome 15

Variations for Mitochondrial Dna Depletion Syndrome 15

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 15:

75
# Symbol AA change Variation ID SNP ID
1 TFAM p.Pro178Leu VAR_077842 rs757075712

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TFAM NM_003201.2(TFAM): c.533C> T (p.Pro178Leu) single nucleotide variant Likely pathogenic rs757075712 GRCh38 Chromosome 10, 58390856: 58390856
2 TFAM NM_003201.2(TFAM): c.533C> T (p.Pro178Leu) single nucleotide variant Likely pathogenic rs757075712 GRCh37 Chromosome 10, 60150616: 60150616

Expression for Mitochondrial Dna Depletion Syndrome 15

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 15.

Pathways for Mitochondrial Dna Depletion Syndrome 15

GO Terms for Mitochondrial Dna Depletion Syndrome 15

Sources for Mitochondrial Dna Depletion Syndrome 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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