MCID: MTC093
MIFTS: 7

Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

Categories: Neuronal diseases, Liver diseases, Nephrological diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form:

Name: Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 59
Mtdna Depletion Syndrome, Hepatocerebrorenal Form 59

Characteristics:

Orphanet epidemiological data:

59
mitochondrial dna depletion syndrome, hepatocerebrorenal form
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA363534
ICD10 via Orphanet 34 E88.8

Summaries for Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

MalaCards based summary : Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form, is also known as mtdna depletion syndrome, hepatocerebrorenal form. An important gene associated with Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form is TWNK (Twinkle MtDNA Helicase). Affiliated tissues include liver.

Related Diseases for Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

Genetic Tests for Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

Anatomical Context for Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form:

41
Liver

Publications for Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

Variations for Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

Expression for Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form.

Pathways for Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

GO Terms for Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

Sources for Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

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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