MTDPS19
MCID: MTC213
MIFTS: 21

Mitochondrial Dna Depletion Syndrome 19 (MTDPS19)

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 19

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 19:

Name: Mitochondrial Dna Depletion Syndrome 19 57 72 6
Mtdps19 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
one patient has been reported (last curated august 2020)


HPO:

31
mitochondrial dna depletion syndrome 19:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 19

UniProtKB/Swiss-Prot : 72 Mitochondrial DNA depletion syndrome 19: An autosomal recessive mitochondrial disorder characterized by progressive and severe epileptic encephalopathy, hypotonia, poor spontaneous movements evolving to spastic quadriparesis and dyskinesias, and respiratory complex I deficiency and mitochondrial DNA depletion in skeletal muscle.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 19, is also known as mtdps19. An important gene associated with Mitochondrial Dna Depletion Syndrome 19 is SLC25A10 (Solute Carrier Family 25 Member 10). Affiliated tissues include skeletal muscle, eye and brain, and related phenotypes are spasticity and hearing impairment

More information from OMIM: 618972 PS603041

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 19

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 19:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 very rare (1%) HP:0001257
2 hearing impairment 31 very rare (1%) HP:0000365
3 dyskinesia 31 very rare (1%) HP:0100660
4 myoclonus 31 very rare (1%) HP:0001336
5 microcytic anemia 31 very rare (1%) HP:0001935
6 increased serum lactate 31 very rare (1%) HP:0002151
7 hypospadias 31 very rare (1%) HP:0000047
8 infantile spasms 31 very rare (1%) HP:0012469
9 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
10 decreased activity of mitochondrial complex i 31 very rare (1%) HP:0011923
11 tetraparesis 31 very rare (1%) HP:0002273
12 generalized hypotonia 31 very rare (1%) HP:0001290
13 focal-onset seizure 31 very rare (1%) HP:0007359
14 multifocal epileptiform discharges 31 very rare (1%) HP:0010841
15 hydrocele testis 31 very rare (1%) HP:0000034
16 depletion of mitochondrial dna in muscle tissue 31 very rare (1%) HP:0009141

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
quadriparesis
hypotonia
normal intellectual development
seizures, early-onset
more
Genitourinary External Genitalia Male:
hypospadias
hydrocele

Head And Neck Eyes:
poor eye tracking

Hematology:
anemia, iron-deficient

Laboratory Abnormalities:
increased serum lactate

Head And Neck Ears:
hearing loss, unilateral

Muscle Soft Tissue:
decreased mtdna content in muscle tissue
mitochondrial complex i deficiency in muscle tissue

Clinical features from OMIM®:

618972 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 19

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 19

Genetic Tests for Mitochondrial Dna Depletion Syndrome 19

Anatomical Context for Mitochondrial Dna Depletion Syndrome 19

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 19:

40
Skeletal Muscle, Eye, Brain, Testis

Publications for Mitochondrial Dna Depletion Syndrome 19

Articles related to Mitochondrial Dna Depletion Syndrome 19:

# Title Authors PMID Year
1
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. 6 57
29211846 2018

Variations for Mitochondrial Dna Depletion Syndrome 19

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 19:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC25A10 NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter) SNV Pathogenic 446175 rs1555703272 GRCh37: 17:79682598-79682598
GRCh38: 17:81715568-81715568
2 SLC25A10 NM_012140.5(SLC25A10):c.657C>T (p.Pro219=) SNV Pathogenic 974801 rs114621664 GRCh37: 17:79684843-79684843
GRCh38: 17:81717813-81717813

Expression for Mitochondrial Dna Depletion Syndrome 19

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 19.

Pathways for Mitochondrial Dna Depletion Syndrome 19

GO Terms for Mitochondrial Dna Depletion Syndrome 19

Sources for Mitochondrial Dna Depletion Syndrome 19

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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