MTDPS15
MCID: MTC129
MIFTS: 23

Mitochondrial Dna Depletion Syndrome 15 (MTDPS15)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory 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 12 72 29 6
Mtdps15 57 72
Mitochondrial Dna Depletion Syndrome 15, Hepatocerebral Type 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
mitochondrial dna depletion syndrome 15:
Onset and clinical course death in infancy progressive congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 15

UniProtKB/Swiss-Prot : 72 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 failure to thrive and hypoglycemia

Disease Ontology : 12 A mitochondrial DNA depletion syndrome that is 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, and has material basis in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21.

More information from OMIM: 617156 PS603041

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 15

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 15:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 hypoglycemia 31 HP:0001943
3 ascites 31 HP:0001541
4 intrauterine growth retardation 31 HP:0001511
5 elevated hepatic transaminase 31 HP:0002910
6 cirrhosis 31 HP:0001394
7 jaundice 31 HP:0000952
8 hepatic failure 31 HP:0001399
9 hypoalbuminemia 31 HP:0003073
10 microvesicular hepatic steatosis 31 HP:0001414
11 abnormality of the coagulation cascade 31 HP:0003256

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
intrauterine growth retardation

Abdomen:
ascites

Skin Nails Hair Skin:
jaundice

Muscle Soft Tissue:
mitochondrial proliferation
mtdna depletion
abnormal mitochondria
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
mtdna depletion
mitochondrial hyperplasia
more
Hematology:
coagulopathy

Clinical features from OMIM®:

617156 (Updated 05-Apr-2021)

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:

40
Liver, Skeletal Muscle

Publications for Mitochondrial Dna Depletion Syndrome 15

Articles related to Mitochondrial Dna Depletion Syndrome 15:

# Title Authors PMID Year
1
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion. 6 57
27448789 2016
2
Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. 57
9500544 1998

Variations for Mitochondrial Dna Depletion Syndrome 15

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 15:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TFAM NM_003201.3(TFAM):c.533C>T (p.Pro178Leu) SNV Pathogenic 221285 rs757075712 GRCh37: 10:60150616-60150616
GRCh38: 10:58390856-58390856
2 TFAM NM_003201.3(TFAM):c.441dup (p.Glu148fs) Duplication Pathogenic 1033983 GRCh37: 10:60148569-60148570
GRCh38: 10:58388809-58388810

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

72
# Symbol AA change Variation ID SNP ID
1 TFAM p.Pro178Leu VAR_077842 rs757075712

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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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