MCID: MTC126
MIFTS: 19

Mitochondrial Dna Depletion Syndrome 14

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 14

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 14:

Name: Mitochondrial Dna Depletion Syndrome 14 57 75 29 6
Mtdps14 57 75
Mitochondrial Dna Depletion Syndrome 14, Cardioencephalomyopathic Type 75
Mitochondrial Dna Depletion Syndrome, Type 14 40

Characteristics:

HPO:

32
mitochondrial dna depletion syndrome 14:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 14

UniProtKB/Swiss-Prot : 75 Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type: An autosomal recessive mitochondrial disorder characterized by lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy. Skeletal muscle biopsies show significant mtDNA depletion and abnormal mitochondria.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 14, also known as mtdps14, is related to autosomal dominant optic atrophy plus syndrome. An important gene associated with Mitochondrial Dna Depletion Syndrome 14 is OPA1 (OPA1, Mitochondrial Dynamin Like GTPase). Affiliated tissues include skeletal muscle, and related phenotypes are sensorineural hearing impairment and retinal degeneration

Description from OMIM: 616896

Related Diseases for Mitochondrial Dna Depletion Syndrome 14

Diseases related to Mitochondrial Dna Depletion Syndrome 14 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant optic atrophy plus syndrome 9.0 LOC102724808 OPA1

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 14

Clinical features from OMIM:

616896

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 14:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 retinal degeneration 32 HP:0000546
3 weak cry 32 HP:0001612
4 breech presentation 32 HP:0001623
5 hypertrophic cardiomyopathy 32 HP:0001639
6 apnea 32 HP:0002104
7 opisthotonus 32 HP:0002179
8 skeletal muscle atrophy 32 HP:0003202
9 feeding difficulties in infancy 32 HP:0008872
10 muscular hypotonia of the trunk 32 HP:0008936
11 caesarian section 32 HP:0011410
12 profound global developmental delay 32 HP:0012736

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 14

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 14

Genetic Tests for Mitochondrial Dna Depletion Syndrome 14

Genetic tests related to Mitochondrial Dna Depletion Syndrome 14:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 14 (cardioencephalomyopathic Type) 29 OPA1

Anatomical Context for Mitochondrial Dna Depletion Syndrome 14

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 14:

41
Skeletal Muscle

Publications for Mitochondrial Dna Depletion Syndrome 14

Variations for Mitochondrial Dna Depletion Syndrome 14

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 14:

75
# Symbol AA change Variation ID SNP ID
1 OPA1 p.Leu534Arg VAR_075904 rs869312995

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 14:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OPA1 NM_130837.2(OPA1): c.1766T> G (p.Leu589Arg) single nucleotide variant Pathogenic rs869312995 GRCh37 Chromosome 3, 193364865: 193364865
2 OPA1 NM_130837.2(OPA1): c.1766T> G (p.Leu589Arg) single nucleotide variant Pathogenic rs869312995 GRCh38 Chromosome 3, 193647076: 193647076

Expression for Mitochondrial Dna Depletion Syndrome 14

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 14.

Pathways for Mitochondrial Dna Depletion Syndrome 14

GO Terms for Mitochondrial Dna Depletion Syndrome 14

Sources for Mitochondrial Dna Depletion Syndrome 14

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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