Mitochondrial Dna Depletion Syndrome 11 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Liver diseases Bone diseases Muscle diseases Gastrointestinal diseases Nephrological diseases Ear diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Mitochondrial myopathy, not elsewhere classified

Orphanet: ⁵⁹

Rare neurological diseases

Rare eye diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 615084

Disease Ontology ¹² DOID:0080129

Orphanet ⁵⁹ ORPHA352447

ICD10 via Orphanet ³⁴ G71.3

MedGen ⁴² C3554462 CN165700

MeSH ⁴⁴ D017240

UMLS ⁷³ C3554462

Sources

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, liver and bone, and related phenotypes are ptosis and intellectual disability

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.

Sources

Related Diseases for Mitochondrial Dna Depletion Syndrome 11

Diseases in the Mitochondrial Dna Deletion Syndromes 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 12a	Mitochondrial Dna Depletion Syndrome 12b
Mitochondrial Dna Depletion Syndrome	Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Sources

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

Muscle Soft Tissue:
easy fatigability
exercise intolerance
muscle atrophy, proximal
muscle atrophy, generalized
ragged-red fibers seen on muscle biopsy
more

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

Neurologic Peripheral Nervous System:
hyporeflexia

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

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 11:

dyspnea, facial paresis

Sources

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 11

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

Sources

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

Sources

Anatomical Context for Mitochondrial Dna Depletion Syndrome 11

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

⁴¹

Skeletal Muscle, Liver, Bone, Eye

Sources

Publications for Mitochondrial Dna Depletion Syndrome 11

Sources

Genes for Mitochondrial Dna Depletion Syndrome 11

Genes related to Mitochondrial Dna Depletion Syndrome 11 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MGME1	Mitochondrial Genome Maintenance Exonuclease 1	Protein Coding	1688.61	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	23313956 29517884
2	SNX5	Sorting Nexin 5	Protein Coding	17.94	GeneCards inferred via : Variants (show sections)

Sources

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
7	MGME1	NM_052865.3(MGME1): c.532C> T (p.Arg178Trp)	single nucleotide variant	Uncertain significance	rs143417446	GRCh37	Chromosome 20, 17956347: 17956347
8	MGME1	NM_052865.3(MGME1): c.532C> T (p.Arg178Trp)	single nucleotide variant	Uncertain significance	rs143417446	GRCh38	Chromosome 20, 17975704: 17975704

Sources

Expression for Mitochondrial Dna Depletion Syndrome 11

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

Sources

Pathways for Mitochondrial Dna Depletion Syndrome 11

Sources

GO Terms for Mitochondrial Dna Depletion Syndrome 11

Sources

Sources for Mitochondrial Dna Depletion Syndrome 11

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Mitochondrial Dna Depletion Syndrome 11 (MTDPS11)

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 11

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 11:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Mitochondrial Dna Depletion Syndrome 11

Related Diseases for Mitochondrial Dna Depletion Syndrome 11

Diseases in the Mitochondrial Dna Deletion Syndromes family:

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 11

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 11:

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 11:

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 11

Genetic Tests for Mitochondrial Dna Depletion Syndrome 11

Genetic tests related to Mitochondrial Dna Depletion Syndrome 11:

Anatomical Context for Mitochondrial Dna Depletion Syndrome 11

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

Publications for Mitochondrial Dna Depletion Syndrome 11

Genes for Mitochondrial Dna Depletion Syndrome 11

Genes related to Mitochondrial Dna Depletion Syndrome 11 (1 elite genes):

Variations for Mitochondrial Dna Depletion Syndrome 11

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

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 11:

Expression 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