MTDPS18
MCID: MTC204
MIFTS: 19

Mitochondrial Dna Depletion Syndrome 18 (MTDPS18)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 18

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 18:

Name: Mitochondrial Dna Depletion Syndrome 18 56 6
Mtdps18 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early childhood
one patient born of consanguineous pakistani parents has been reported (last curated march 2020)


HPO:

31
mitochondrial dna depletion syndrome 18:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 18

OMIM : 56 Mitochondrial DNA depletion syndrome-18 (MTDPS18) is an autosomal recessive neuromuscular disorder characterized by early-onset progressive weakness and atrophy of the distal limb muscles, resulting in loss of ambulation as well as atrophy of the intrinsic hand muscles with clawed hands. Affected individuals may also develop scoliosis and have hypo- or hyperreflexia and decreased pulmonary vital capacity. Examination of skeletal muscle shows neurogenic atrophy and combined mitochondrial oxidative phosphorylation deficiency associated with mtDNA depletion. The clinical phenotype is reminiscent of spinal muscular atrophy (see SMA, 253300) and the metabolic profile is reminiscent of 2-aminoadipic 2-oxoadipic aciduria (AMOXAD; 204750), which is caused by mutation in the DHTKD1 gene (614984) (summary by Boczonadi et al., 2018). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). (618811)

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 18, is also known as mtdps18. An important gene associated with Mitochondrial Dna Depletion Syndrome 18 is SLC25A21 (Solute Carrier Family 25 Member 21). Affiliated tissues include skeletal muscle and tongue, and related phenotypes are scoliosis and failure to thrive

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 18

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 18:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 failure to thrive 31 very rare (1%) HP:0001508
3 microcytic anemia 31 very rare (1%) HP:0001935
4 areflexia 31 very rare (1%) HP:0001284
5 clonus 31 very rare (1%) HP:0002169
6 distal muscle weakness 31 very rare (1%) HP:0002460
7 proximal muscle weakness 31 very rare (1%) HP:0003701
8 foot dorsiflexor weakness 31 very rare (1%) HP:0009027
9 falls 31 very rare (1%) HP:0002527
10 hand muscle atrophy 31 very rare (1%) HP:0009130
11 tongue fasciculations 31 very rare (1%) HP:0001308
12 weakness of facial musculature 31 very rare (1%) HP:0030319
13 axonal degeneration 31 very rare (1%) HP:0040078
14 lacticaciduria 31 very rare (1%) HP:0003648
15 reduced forced vital capacity 31 very rare (1%) HP:0032341

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
hyperreflexia
ankle clonus
foot drop
loss of ambulation
impaired ambulation

Skeletal Hands:
hand muscle atrophy
clawed hands

Respiratory:
decreased respiratory vital capacity

Growth Other:
failure to thrive

Neurologic Peripheral Nervous System:
hyporeflexia

Muscle Soft Tissue:
fiber type grouping
mtdna depletion
neurogenic atrophy seen on skeletal muscle biopsy
distal muscle weakness and atrophy (neurogenic)
proximal muscle weakness (later-onset)
more
Laboratory Abnormalities:
lactic aciduria
increased urinary excretion of 3-hydroxyisovaleric acid
increased urinary excretion of glutaric acid
increased urinary excretion of 2-oxoadipate
increased urinary excretion of quinolinic acid
more

Clinical features from OMIM:

618811

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 18

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 18

Genetic Tests for Mitochondrial Dna Depletion Syndrome 18

Anatomical Context for Mitochondrial Dna Depletion Syndrome 18

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 18:

40
Skeletal Muscle, Tongue

Publications for Mitochondrial Dna Depletion Syndrome 18

Articles related to Mitochondrial Dna Depletion Syndrome 18:

# Title Authors PMID Year
1
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease. 6 56
29517768 2018

Variations for Mitochondrial Dna Depletion Syndrome 18

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 18:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A21 NM_030631.4(SLC25A21):c.695A>G (p.Lys232Arg)SNV Pathogenic 827876 14:37154039-37154039 14:36684834-36684834

Expression for Mitochondrial Dna Depletion Syndrome 18

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 18.

Pathways for Mitochondrial Dna Depletion Syndrome 18

GO Terms for Mitochondrial Dna Depletion Syndrome 18

Sources for Mitochondrial Dna Depletion Syndrome 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....