MTDPS10
MCID: SNG007
MIFTS: 41

Sengers Syndrome (MTDPS10) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Cardiovascular diseases

Aliases & Classifications for Sengers Syndrome

Aliases & Descriptions for Sengers Syndrome:

Name: Sengers Syndrome 54 12 50 24 66 13 52 14
Mitochondrial Dna Depletion Syndrome 10 12 24 66
Cardiomyopathy and Cataract 50 24 66
Cataract and Cardiomyopathy 50 29 69
Mtdps10 24 66
Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10 50

Characteristics:

HPO:

32
sengers syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



External Ids:

OMIM 54 212350
Disease Ontology 12 DOID:0080132
MedGen 40 C1859317

Summaries for Sengers Syndrome

OMIM : 54 Sengers syndrome is an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic... (212350) more...

MalaCards based summary : Sengers Syndrome, also known as mitochondrial dna depletion syndrome 10, is related to myopathy, myofibrillar, 2 and mitochondrial dna depletion syndrome 1, and has symptoms including fatigue, muscle weakness and nystagmus. An important gene associated with Sengers Syndrome is AGK (Acylglycerol Kinase), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include skeletal muscle, and related phenotypes are homeostasis/metabolism and nervous system

UniProtKB/Swiss-Prot : 66 Mitochondrial DNA depletion syndrome 10: An autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy.

Related Diseases for Sengers Syndrome

Graphical network of the top 20 diseases related to Sengers Syndrome:



Diseases related to Sengers Syndrome

Symptoms & Phenotypes for Sengers Syndrome

Symptoms by clinical synopsis from OMIM:

212350

Clinical features from OMIM:

212350

Human phenotypes related to Sengers Syndrome:

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 fatigue 32 HP:0012378
2 muscle weakness 32 HP:0001324
3 nystagmus 32 HP:0000639
4 muscular hypotonia 32 HP:0001252
5 respiratory insufficiency 32 HP:0002093
6 myopathy 32 HP:0003198
7 hypertrophic cardiomyopathy 32 HP:0001639
8 strabismus 32 HP:0000486
9 growth delay 32 HP:0001510
10 thrombocytopenia 32 HP:0001873
11 increased serum lactate 32 HP:0002151
12 mitochondrial myopathy 32 HP:0003737
13 myopia 32 HP:0000545
14 glaucoma 32 HP:0000501
15 motor delay 32 HP:0001270
16 exercise intolerance 32 HP:0003546
17 congenital cataract 32 HP:0000519
18 easy fatigability 32 HP:0003388
19 3-methylglutaconic aciduria 32 HP:0003535
20 exercise-induced lactic acidemia 32 HP:0004901

UMLS symptoms related to Sengers Syndrome:


fatigue, muscle weakness

MGI Mouse Phenotypes related to Sengers Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 ABHD12 ALDH3A2 CHKB DDHD1 DDHD2 FA2H
2 nervous system MP:0003631 9.32 ABHD12 ALDH3A2 CHKB CYCS DDHD2 DGKE

Drugs & Therapeutics for Sengers Syndrome

Search Clinical Trials , NIH Clinical Center for Sengers Syndrome

Genetic Tests for Sengers Syndrome

Genetic tests related to Sengers Syndrome:

id Genetic test Affiliating Genes
1 Cataract and Cardiomyopathy 29
2 Sengers Syndrome 24 AGK

Anatomical Context for Sengers Syndrome

MalaCards organs/tissues related to Sengers Syndrome:

39
Skeletal Muscle

Publications for Sengers Syndrome

Articles related to Sengers Syndrome:

id Title Authors Year
1
Sengers syndrome: a unique cause of severe hypertrophic cardiomyopathy. ( 26231691 )
2015
2
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. ( 25208612 )
2014
3
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. ( 23266196 )
2013
4
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. ( 22284826 )
2012
5
Neuroradiologic findings in Sengers syndrome. ( 18639755 )
2008
6
Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome. ( 12112053 )
2002
7
Cardiac transplantation for hypertrophic cardiomyopathy associated with Sengers syndrome. ( 8526648 )
1995

Variations for Sengers Syndrome

ClinVar genetic disease variations for Sengers Syndrome:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 AGK AGK, IVS3DS, T-C, +2 single nucleotide variant Pathogenic
2 AGK AGK, TYR390TER undetermined variant Pathogenic
3 AGK AGK, IVS13DS, G-T, +1 single nucleotide variant Pathogenic
4 AGK AGK, MET1ILE undetermined variant Pathogenic
5 AGK NM_018238.3(AGK): c.517C> T (p.Gln173Ter) single nucleotide variant Pathogenic rs387907024 GRCh37 Chromosome 7, 141315364: 141315364
6 AGK AGK, TYR102TER undetermined variant Pathogenic
7 AGK NM_018238.3(AGK): c.841C> T (p.Arg281Ter) single nucleotide variant Pathogenic rs387907025 GRCh37 Chromosome 7, 141341162: 141341162
8 AGK AGK, TYR224TER undetermined variant Pathogenic
9 AGK AGK, IVS16DS, G-A, +5 single nucleotide variant Pathogenic
10 AGK NM_018238.3(AGK): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs746709222 GRCh38 Chromosome 7, 141614164: 141614164
11 AGK NM_018238.3(AGK): c.424-3C> G single nucleotide variant Pathogenic rs766413410 GRCh38 Chromosome 7, 141615468: 141615468

Expression for Sengers Syndrome

Search GEO for disease gene expression data for Sengers Syndrome.

Pathways for Sengers Syndrome

GO Terms for Sengers Syndrome

Cellular components related to Sengers Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.8 ALDH3A2 CYP2U1 FA2H LPIN1 PCYT1A PNPLA6
2 mitochondrion GO:0005739 9.56 AGK ALDH3A2 CLPB CYCS SERAC1 SLC25A4
3 mitochondrial inner membrane GO:0005743 9.55 ALDH3A2 CYCS SLC25A4 TAZ TMEM70
4 endoplasmic reticulum membrane GO:0005789 9.17 ALDH3A2 CYP2U1 FA2H LPIN1 PCYT1A PNPLA6
5 membrane GO:0016020 10.2 ABHD12 AGK ALDH3A2 CYP2U1 DDHD2 DGKE

Biological processes related to Sengers Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 9.65 DDHD1 DDHD2 PNPLA6
2 positive regulation of mitochondrial fission GO:0090141 9.46 DDHD1 DDHD2
3 phosphatidylethanolamine biosynthetic process GO:0006646 9.43 CHKB LPIN1
4 lipid phosphorylation GO:0046834 9.4 AGK DGKE
5 glycerophospholipid biosynthetic process GO:0046474 9.37 AGK CHKB
6 phospholipid biosynthetic process GO:0008654 9.35 CHKB DGKE PCYT1A PTDSS1 SERAC1
7 phosphatidylcholine biosynthetic process GO:0006656 9.33 CHKB LPIN1 PCYT1A
8 glycerophospholipid catabolic process GO:0046475 9.32 ABHD12 PNPLA6
9 lipid metabolic process GO:0006629 9.28 CHKB DDHD1 DDHD2 FA2H LPIN1 PCYT1A
10 CDP-choline pathway GO:0006657 9.26 CHKB PCYT1A

Molecular functions related to Sengers Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.5 CYCS CYP2U1 FA2H
2 lysophospholipase activity GO:0004622 9.26 ABHD12 PNPLA6
3 NAD+ kinase activity GO:0003951 9.16 AGK DGKE
4 phospholipase activity GO:0004620 8.96 DDHD1 DDHD2
5 diacylglycerol kinase activity GO:0004143 8.62 AGK DGKE

Sources for Sengers Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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