MCID: MTC078
MIFTS: 23

Mitochondrial Dna Depletion Syndrome 11

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 11

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 11:

Name: Mitochondrial Dna Depletion Syndrome 11 57 12 75 29 13 6 73
Mtdps11 57 75
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome 59
Mitochondrial Dna Maintenance Syndrome Due to Mgme1 Deficiency 59
Mtdna Maintenance Syndrome Due to Mgme1 Deficiency 59
Mitochondrial Dna Depletion Syndrome, Type 11 40
Peo-Myopathy-Emaciation Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
progressive external ophthalmoplegia-myopathy-emaciation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
variable age at onset (range first to fourth decade)


HPO:

32
mitochondrial dna depletion syndrome 11:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 11

OMIM : 57 Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities (summary by Kornblum et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). (615084)

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 11, is also known as mtdps11, and has symptoms including dyspnea and facial paresis. An important gene associated with Mitochondrial Dna Depletion Syndrome 11 is MGME1 (Mitochondrial Genome Maintenance Exonuclease 1). Affiliated tissues include skeletal muscle, and related phenotypes are microcephaly and ptosis

UniProtKB/Swiss-Prot : 75 Mitochondrial DNA depletion syndrome 11: An autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia, muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities.

Related Diseases for Mitochondrial Dna Depletion Syndrome 11

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 11

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
progressive external ophthalmoplegia

Skeletal Spine:
kyphosis
spinal deformities
rigid spine

Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Face:
facial weakness

Head And Neck Head:
microcephaly (in 1 family)

Laboratory Abnormalities:
increased serum creatine kinase, mild

Cardiovascular Heart:
cardiomyopathy, dilated (in 1 patient)
arrhythmias (in 1 patient)

Endocrine Features:
hypergonadotropic hypogonadism (reported in 1 female)

Voice:
dysphonia
nasal speech

Respiratory:
dyspnea
recurrent infections
respiratory insufficiency, severe, due to muscle weakness
ventilation may be required

Muscle Soft Tissue:
exercise intolerance
easy fatigability
muscle atrophy, proximal
muscle atrophy, generalized
ragged-red fibers seen on muscle biopsy
more
Neurologic Central Nervous System:
mental retardation (reported in 1 family)
cerebellar hypoplasia (reported in 1 family)

Abdomen Gastrointestinal:
diarrhea (in some patients)
gastrointestinal symptoms (in some patients)
nausea (in some patients)
abdominal fullness (in some patients)
loss of appetite (in some patients)

Growth Weight:
emaciation, profound

Genitourinary Kidneys:
renal colic (in some patients)


Clinical features from OMIM:

615084

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 11:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 ptosis 32 HP:0000508
3 progressive external ophthalmoplegia 32 HP:0000590
4 hypergonadotropic hypogonadism 32 HP:0000815
5 intellectual disability 32 occasional (7.5%) HP:0001249
6 hyporeflexia 32 HP:0001265
7 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
8 nasal speech 32 HP:0001611
9 dysphonia 32 HP:0001618
10 dilated cardiomyopathy 32 occasional (7.5%) HP:0001644
11 diarrhea 32 occasional (7.5%) HP:0002014
12 nausea 32 occasional (7.5%) HP:0002018
13 respiratory insufficiency 32 HP:0002093
14 dyspnea 32 HP:0002094
15 recurrent infections 32 HP:0002719
16 kyphosis 32 HP:0002808
17 elevated serum creatine phosphokinase 32 HP:0003236
18 spinal rigidity 32 HP:0003306
19 easy fatigability 32 HP:0003388
20 exercise intolerance 32 HP:0003546
21 generalized amyotrophy 32 HP:0003700
22 proximal amyotrophy 32 HP:0007126
23 spinal deformities 32 HP:0008443
24 facial palsy 32 HP:0010628
25 arrhythmia 32 occasional (7.5%) HP:0011675

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 11:


dyspnea, facial paresis

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 11

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 11

Genetic Tests for Mitochondrial Dna Depletion Syndrome 11

Genetic tests related to Mitochondrial Dna Depletion Syndrome 11:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 11 29 MGME1

Anatomical Context for Mitochondrial Dna Depletion Syndrome 11

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 11:

41
Skeletal Muscle

Publications for Mitochondrial Dna Depletion Syndrome 11

Variations for Mitochondrial Dna Depletion Syndrome 11

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 11:

75
# Symbol AA change Variation ID SNP ID
1 MGME1 p.Tyr233Cys VAR_069102 rs587776944

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MGME1 NM_001310338.1(MGME1): c.456G> A (p.Trp152Ter) single nucleotide variant Pathogenic rs587776943 GRCh37 Chromosome 20, 17950958: 17950958
2 MGME1 NM_001310338.1(MGME1): c.456G> A (p.Trp152Ter) single nucleotide variant Pathogenic rs587776943 GRCh38 Chromosome 20, 17970315: 17970315
3 MGME1 NM_001310338.1(MGME1): c.743A> G (p.Tyr248Cys) single nucleotide variant Pathogenic rs587776944 GRCh37 Chromosome 20, 17956513: 17956513
4 MGME1 NM_001310338.1(MGME1): c.743A> G (p.Tyr248Cys) single nucleotide variant Pathogenic rs587776944 GRCh38 Chromosome 20, 17975870: 17975870
5 MGME1 NM_052865.3(MGME1): c.359delC (p.Pro120Leufs) deletion Pathogenic GRCh37 Chromosome 20, 17950861: 17950861
6 MGME1 NM_052865.3(MGME1): c.359delC (p.Pro120Leufs) deletion Pathogenic GRCh38 Chromosome 20, 17970218: 17970218

Expression for Mitochondrial Dna Depletion Syndrome 11

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 11.

Pathways for Mitochondrial Dna Depletion Syndrome 11

GO Terms for Mitochondrial Dna Depletion Syndrome 11

Sources for Mitochondrial Dna Depletion Syndrome 11

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71 TGDB
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74 UMLS via Orphanet
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