MTDPS14
MCID: MTC126
MIFTS: 31

Mitochondrial Dna Depletion Syndrome 14 (MTDPS14)

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 14

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 14:

Name: Mitochondrial Dna Depletion Syndrome 14 57 12 72 29 29 6 15
Mtdps14 57 72
Mitochondrial Dna Depletion Syndrome 14, Cardioencephalomyopathic Type 72
Mitochondrial Dna Depletion Syndrome, Type 14 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
death in infancy
progressive disorder
onset at birth
two sisters from a consanguineous family have been reported (last curated april 2016)

Inheritance:
autosomal recessive


HPO:

31
mitochondrial dna depletion syndrome 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080336
OMIM® 57 616896
OMIM Phenotypic Series 57 PS603041
MeSH 44 D017240

Summaries for Mitochondrial Dna Depletion Syndrome 14

Disease Ontology : 12 A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has material basis in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 14, also known as mtdps14, is related to mitochondrial dna depletion syndrome and mitochondrial dna maintenance defects. An important gene associated with Mitochondrial Dna Depletion Syndrome 14 is OPA1 (OPA1 Mitochondrial Dynamin Like GTPase). Affiliated tissues include skeletal muscle and eye, and related phenotypes are sensorineural hearing impairment and feeding difficulties in infancy

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 616896 PS603041

Related Diseases for Mitochondrial Dna Depletion Syndrome 14

Diseases in the Mitochondrial Dna Depletion Syndrome family:

Mitochondrial Dna Depletion Syndrome 4a Mitochondrial Dna Depletion Syndrome 9
Mitochondrial Dna Depletion Syndrome 3 Mitochondrial Dna Depletion Syndrome 6
Mitochondrial Dna Depletion Syndrome 7 Mitochondrial Dna Depletion Syndrome 1
Mitochondrial Dna Depletion Syndrome 2 Mitochondrial Dna Depletion Syndrome 5
Mitochondrial Dna Depletion Syndrome 8a Mitochondrial Dna Depletion Syndrome 4b
Mitochondrial Dna Depletion Syndrome 11 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 13 Mitochondrial Dna Depletion Syndrome 14
Mitochondrial Dna Depletion Syndrome 15 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant
Mitochondrial Dna Depletion Syndrome 16 Mitochondrial Dna Depletion Syndrome 17
Mitochondrial Dna Depletion Syndrome 18 Mitochondrial Dna Depletion Syndrome 19
Mitochondrial Dna Depletion Syndrome 12a Mitochondrial Dna Depletion Syndrome 12b
Mitochondrial Dna Deletion Syndromes Multiple Mitochondrial Dna Deletion Syndrome

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 10.0 OPA1 MGME1
2 mitochondrial dna maintenance defects 9.9 OPA1 MGME1
3 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 9.9 OPA1-AS1 OPA1
4 glaucoma, normal tension 9.9 OPA1-AS1 OPA1
5 mitochondrial dna depletion syndrome 2 9.8 UQCC2 TEFM
6 optic atrophy 1 9.7 OPA1-AS1 OPA1
7 mitochondrial dna depletion syndrome 4a 9.6 PRIMPOL MGME1
8 mitochondrial dna depletion syndrome 1 9.2 UQCC2 TEFM PRIMPOL MGME1
9 charcot-marie-tooth disease type 2a2b 9.1 UQCC2 TEFM PRIMPOL MGME1
10 mitochondrial dna depletion syndrome 11 9.1 UQCC2 TEFM PRIMPOL MGME1
11 mitochondrial dna depletion syndrome 8a 9.1 UQCC2 TEFM PRIMPOL MGME1

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 14:



Diseases related to Mitochondrial Dna Depletion Syndrome 14

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 14

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 14:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 feeding difficulties in infancy 31 HP:0008872
3 skeletal muscle atrophy 31 HP:0003202
4 hypertrophic cardiomyopathy 31 HP:0001639
5 apnea 31 HP:0002104
6 profound global developmental delay 31 HP:0012736
7 weak cry 31 HP:0001612
8 retinal degeneration 31 HP:0000546
9 muscular hypotonia of the trunk 31 HP:0008936
10 breech presentation 31 HP:0001623
11 opisthotonus 31 HP:0002179
12 caesarian section 31 HP:0011410

Symptoms via clinical synopsis from OMIM®:

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

Laboratory Abnormalities:
increased serum lactate
increased cerebrospinal fluid lactate

Abdomen Gastrointestinal:
poor feeding

Head And Neck Ears:
sensorineural deafness (1 patient)

Neurologic Central Nervous System:
hypertonia
encephalopathy
delayed psychomotor development, profound
opisthotonic posturing

Muscle Soft Tissue:
hypotonia
muscle atrophy
mtdna depletion
muscle biopsy shows decreased activity of mitochondrial respiratory enzymes

Head And Neck Eyes:
nystagmus (1 patient)
optic atrophy (1 patient)
abnormal eye movements (1 patient)

Cardiovascular Heart:
hypertrophic cardiomyopathy, progressive

Clinical features from OMIM®:

616896 (Updated 05-Apr-2021)

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
2 Mitochondrial Dna Depletion Syndrome 14 (encephalocardiomyopathic Type) 29

Anatomical Context for Mitochondrial Dna Depletion Syndrome 14

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

40
Skeletal Muscle, Eye

Publications for Mitochondrial Dna Depletion Syndrome 14

Articles related to Mitochondrial Dna Depletion Syndrome 14:

# Title Authors PMID Year
1
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. 57
26561570 2016

Variations for Mitochondrial Dna Depletion Syndrome 14

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 14:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OPA1 NM_015560.2(OPA1):c.1601T>G (p.Leu534Arg) SNV Pathogenic 225124 rs869312995 GRCh37: 3:193364865-193364865
GRCh38: 3:193647076-193647076
2 OPA1-AS1 , OPA1 NM_015560.2(OPA1):c.599C>T (p.Ser200Phe) SNV Uncertain significance 344482 rs200243596 GRCh37: 3:193336700-193336700
GRCh38: 3:193618911-193618911
3 OPA1 NM_015560.2(OPA1):c.85C>G (p.Pro29Ala) SNV Uncertain significance 496871 rs145565705 GRCh37: 3:193332564-193332564
GRCh38: 3:193614775-193614775

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

72
# Symbol AA change Variation ID SNP ID
1 OPA1 p.Leu534Arg VAR_075904 rs869312995

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

Cellular components related to Mitochondrial Dna Depletion Syndrome 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.33 UQCC2 TEFM PRIMPOL
2 mitochondrial intermembrane space GO:0005758 9.26 UQCC2 OPA1
3 mitochondrion GO:0005739 9.02 UQCC2 TEFM PRIMPOL OPA1 MGME1
4 mitochondrial nucleoid GO:0042645 8.96 UQCC2 TEFM

Biological processes related to Mitochondrial Dna Depletion Syndrome 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial genome maintenance GO:0000002 9.16 OPA1 MGME1
2 mitochondrial DNA repair GO:0043504 8.96 PRIMPOL MGME1
3 mitochondrial DNA replication GO:0006264 8.8 TEFM PRIMPOL MGME1

Sources for Mitochondrial Dna Depletion Syndrome 14

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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