MTDPS10
MCID: SNG007
MIFTS: 46

Sengers Syndrome (MTDPS10)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Sengers Syndrome

MalaCards integrated aliases for Sengers Syndrome:

Name: Sengers Syndrome 56 12 52 58 73 29 13 54 6 15
Mitochondrial Dna Depletion Syndrome 10 56 12 73
Cardiomyopathy and Cataract 56 52 73
Cataract and Cardiomyopathy 52 43 71
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 52 58
Mtdps10 56 73
Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10 52
Mitochondrial Dna Depletion Syndrome 10 ; Mtdps10 56
Senger Syndrome 39

Characteristics:

Orphanet epidemiological data:

58
congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,adult,early childhood,infantile,late childhood,young Adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
high risk of death in infancy due to cardiac failure


HPO:

31
sengers syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 58  
Rare eye diseases
Inborn errors of metabolism


Summaries for Sengers Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1369 Definition Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. Epidemiology Prevalence of CCM is unknown; approximately 40 cases have been reported to date in disparate locations throughout the world. Clinical description Clinical features include congenital cataract (total or rapidly progressive), hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. CCM may present in two forms, a neonatal lethal form or a chronic form. Hypertrophic cardiomyopathy is diagnosed at birth in half of the patients in both forms. Approximately half of the patients die within the first year of life due to cardiac failure. Nystagmus , strabismus , hypotonia , hyporeflexia and delayed motor development are occasional features. Marked lactic acidemia occurs with even limited muscular exertion. Patients who survive neonatal period and infancy, manifest the chronic form with stable cardiomyopathy and myopathy and have a normal intellect. Physical mobility is impaired due to muscular weakness in most patients. Etiology In the majority of CCM patients mutations (nonsense, frame-shift, start codon or splice site) in the AGK gene have been identified. The AGK gene encodes the mitochondrial acylglycerol kinase which plays a role in the assembly of adenine nucleotide translocator (ANT), an essential component of the oxidative phosphorylation in mitochondria . Two patients with distinct autosomal recessive SLC25A4 mutations have been reported (one of whom had cardiomyopathy but not cataract). The SLC25A4 gene encodes the heart and muscle specific isoform 1 of the mitochondrial ANT. The etiology remains genetically unsolved in the rest of cases of CCM. The milder affected individuals carried either splice site or start codon mutations. Diagnostic methods Diagnostic procedures include serum and urine analysis for lactic acid, radiology and echocardiogram for findings of cardiomyopathy. Muscle biopsy from cardiac and skeletal muscle reveals storage of lipid and glycogen, mitochondrial abnormalities, ANT deficiency and mild decrease of respiratory chain complexes I and IV. Genetic testing may reveal autosomal recessive mutations in AGK and SLC25A4 and it should be considered early in diagnostic workup. Differential diagnosis Differential diagnoses include mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency, isolated ATP synthase deficiency and Barth syndrome (see these terms). Antenatal diagnosis Prenatal genetic testing may be possible for families with affected children. Genetic counseling The reported mutations are transmitted in an autosomal recessive manner. Management and treatment CCM patients require cataract surgery during infancy and medical management of cardiomyopathy with standard therapy. Patients may require palliative care and a wheelchair for locomotion. Prognosis Approximately half of the reported patients die in the first year of life due to cardiac failure. The longest surviving patients are in their fifth decade of life. Visit the Orphanet disease page for more resources.

MalaCards based summary : Sengers Syndrome, also known as mitochondrial dna depletion syndrome 10, is related to encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts and myopathy, myofibrillar, 2, and has symptoms including muscle weakness and fatigue. An important gene associated with Sengers Syndrome is AGK (Acylglycerol Kinase), and among its related pathways/superpathways is Mitochondrial protein import. Affiliated tissues include skeletal muscle, heart and testes, and related phenotypes are cataract and myopathy

Disease Ontology : 12 A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34.

OMIM : 56 Sengers syndrome is 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 (summary by Mayr et al., 2012). Skeletal muscle biopsies of 2 affected individuals showed severe mtDNA depletion (Calvo et al., 2012). (212350)

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Sengers syndrome is a rare autosomal recessive condition characterised by congenital cataract,... more...

Related Diseases for Sengers Syndrome

Diseases related to Sengers Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts 12.5
2 myopathy, myofibrillar, 2 11.3
3 hypertrophic cardiomyopathy 10.6
4 cataract 10.6
5 lactic acidosis 10.5
6 myopathy 10.5
7 visual cortex disease 10.3 TIMM29 TIMM10B
8 mitochondrial dna maintenance defects 10.3 SLC25A4 AGK
9 atrial standstill 1 10.2
10 mitochondrial myopathy 10.2
11 visual pathway disease 10.2 TIMM29 TIMM10B
12 x-linked chondrodysplasia punctata 2 10.1 DHCR24 CRYAA
13 alacrima, achalasia, and mental retardation syndrome 10.1
14 chorioamnionitis 10.1
15 autosomal recessive disease 10.1
16 meningocele 10.1
17 mitochondrial encephalomyopathy 10.1
18 pathologic nystagmus 10.1
19 hypereosinophilic syndrome 10.1
20 hypotonia 10.1
21 cardiogenic shock 10.1
22 cataract 44 10.1 CRYAA AGK
23 mitochondrial complex v deficiency, nuclear type 5 10.0 TMEM70 AGK
24 3-methylglutaconic aciduria, type iv 9.9 TMEM70 SERAC1
25 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.9 SERAC1 DDHD1
26 mitochondrial dna depletion syndrome 4b 9.9 TMEM70 SLC25A4
27 cutis laxa, autosomal recessive, type iid 9.8
28 cutis laxa 9.8
29 amino acid metabolic disorder 9.7 SERAC1 DNAJC19 CRYAA
30 spastic paraplegia 13, autosomal dominant 9.7 DDHD1 CRYAA
31 urea cycle disorder 9.6 SERAC1 CRYAA
32 mitochondrial dna depletion syndrome 9.6 TMEM70 SLC25A4 SERAC1 AGK
33 3-methylglutaconic aciduria, type i 9.3 TMEM70 TIMM50 SERAC1 DNAJC19
34 mohr-tranebjaerg syndrome 9.2 TIMM50 TIMM29 TIMM22 TIMM10B SERAC1 DNAJC19
35 organic acidemia 9.0 TMEM70 TAZ SERAC1 DNAJC19
36 mitochondrial metabolism disease 9.0 TMEM70 TIMM29 TIMM10B SLC25A4 SERAC1 DNAJC19
37 barth syndrome 8.9 TMEM70 TAZ SERAC1 DNAJC19 AGK
38 3-methylglutaconic aciduria 8.6 TMEM70 TIMM50 TAZ SERAC1 DNAJC19 AGK
39 3-methylglutaconic aciduria, type v 8.5 TMEM70 TIMM50 TAZ SERAC1 DNAJC19 AGK
40 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 8.2 TMEM70 TIMM50 TAZ SERAC1 DNAJC19 DDHD1
41 3-methylglutaconic aciduria, type iii 7.9 TMEM70 TIMM50 TAZ SLC25A4 SERAC1 DNAJC19

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



Diseases related to Sengers Syndrome

Symptoms & Phenotypes for Sengers Syndrome

Human phenotypes related to Sengers Syndrome:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
3 hypertrophic cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001639
4 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
5 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
6 lactic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003128
7 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
8 abnormal electroretinogram 58 31 occasional (7.5%) Occasional (29-5%) HP:0000512
9 corneal dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001131
10 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
11 thrombocytopenia 31 occasional (7.5%) HP:0001873
12 muscular hypotonia 31 HP:0001252
13 muscle weakness 31 HP:0001324
14 fatigue 31 HP:0012378
15 growth delay 31 HP:0001510
16 respiratory insufficiency 31 HP:0002093
17 motor delay 31 HP:0001270
18 easy fatigability 31 HP:0003388
19 increased serum lactate 31 HP:0002151
20 mitochondrial myopathy 31 HP:0003737
21 generalized hypotonia 31 HP:0001290
22 developmental cataract 31 HP:0000519
23 3-methylglutaconic aciduria 31 HP:0003535
24 exercise intolerance 31 HP:0003546
25 exercise-induced lactic acidemia 31 HP:0004901

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
muscle weakness
fatigue
exercise intolerance
hypotonia
lipid storage myopathy
more
Head And Neck Eyes:
strabismus
myopia
glaucoma
cataracts, infantile

Metabolic Features:
lactic acidosis

Growth Other:
poor growth

Hematology:
thrombocytopenia (1 patient)

Cardiovascular Heart:
hypertrophic cardiomyopathy

Respiratory:
respiratory insufficiency

Neurologic Central Nervous System:
hypotonia
delayed motor development
normal cognition

Laboratory Abnormalities:
intermittent 3-methylglutaconic aciduria
increased serum lactate, particularly after exercise

Clinical features from OMIM:

212350

UMLS symptoms related to Sengers Syndrome:


muscle weakness, fatigue

Drugs & Therapeutics for Sengers Syndrome

Search Clinical Trials , NIH Clinical Center for Sengers Syndrome

Cochrane evidence based reviews: cataract and cardiomyopathy

Genetic Tests for Sengers Syndrome

Genetic tests related to Sengers Syndrome:

# Genetic test Affiliating Genes
1 Sengers Syndrome 29 AGK

Anatomical Context for Sengers Syndrome

MalaCards organs/tissues related to Sengers Syndrome:

40
Skeletal Muscle, Heart, Testes, Eye, Liver, Skin

Publications for Sengers Syndrome

Articles related to Sengers Syndrome:

(show all 41)
# Title Authors PMID Year
1
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. 61 56 6
22284826 2012
2
Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome. 56 61 6
15168109 2004
3
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 6 56
22277967 2012
4
[Infantile cataract, hypertrophic cardiomyopathy and lactic acidosis following minor muscular exertion--a little known metabolic disease]. 56 6
3560758 1986
5
Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome. 61 56
12112053 2002
6
Mitochondrial DNA Maintenance Defects Overview 6
29517884 2018
7
Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy. 6
25732997 2015
8
Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. 6
22187496 2012
9
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. 56
16736096 2006
10
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. 6
16155110 2005
11
Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with complex I deficiency. 56
9185510 1997
12
NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings. 56
8892026 1996
13
Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect. 6
8479824 1993
14
Adenine nucleotide translocator deficiency in muscle: potential therapeutic value of vitamin E. 6
7609449 1993
15
Congenital cardiomyopathy and cataracts with lactic acidosis. 56
3337009 1988
16
Features of a syndrome with congenital cataract and hypertrophic cardiomyopathy. 56
3789054 1986
17
Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise. 56
1168700 1975
18
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing. 61
31303091 2020
19
Cardiolipin remodeling in Barth syndrome and other hereditary cardiomyopathies. 61
32348916 2020
20
The role of AGK in thrombocytopoiesis and possible therapeutic strategies. 61
32202634 2020
21
The role of mitochondrial cardiolipin in heart function and its implication in cardiac disease. 61
30837070 2019
22
Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction. 61
29682452 2018
23
Sustained intraoperative bradycardia revealing Sengers syndrome. 61
29416160 2018
24
Comment on 'Sustained intraoperative bradycardia revealing Sengers syndrome'. 61
29416161 2018
25
Mutation in the AGK gene in two siblings with unusual Sengers syndrome. 61
28868593 2017
26
Sustained intraoperative bradycardia revealing Sengers syndrome. 61
29217863 2017
27
Acylglycerol Kinase: Mitochondrial Protein Transport Meets Lipid Biosynthesis. 61
28867158 2017
28
Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria. 61
28712724 2017
29
Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex. 61
28712726 2017
30
Mitochondrial Cardiomyopathies. 61
27504452 2016
31
Sengers syndrome: a unique cause of severe hypertrophic cardiomyopathy. 61
26231691 2015
32
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. 61
25595726 2015
33
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. 61
25178427 2015
34
Lipid metabolism in mitochondrial membranes. 61
25082432 2015
35
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. 61
25208612 2014
36
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. 61
22814679 2013
37
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. 61
23266196 2013
38
Neuroradiologic findings in Sengers syndrome. 61
18639755 2008
39
The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease. 54
16203679 2005
40
Undiagnosed cardiomyopathy in a neonate: significance of low oxygen saturation during anaesthesia. 61
11573538 2001
41
Cardiac transplantation for hypertrophic cardiomyopathy associated with Sengers syndrome. 61
8526648 1995

Variations for Sengers Syndrome

ClinVar genetic disease variations for Sengers Syndrome:

6 (show top 50) (show all 97) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AGK NM_018238.4(AGK):c.298-2A>GSNV Pathogenic 488464 rs1554401640 7:141310993-141310993 7:141611193-141611193
2 AGK NM_018238.4(AGK):c.141+2T>CSNV Pathogenic 30823 rs1554399572 7:141292987-141292987 7:141593187-141593187
3 AGK NM_018238.4(AGK):c.1170T>G (p.Tyr390Ter)SNV Pathogenic 30824 rs1554405935 7:141352625-141352625 7:141652825-141652825
4 AGK NM_018238.4(AGK):c.975+1G>TSNV Pathogenic 30825 rs868431923 7:141341709-141341709 7:141641909-141641909
5 AGK NM_018238.4(AGK):c.517C>T (p.Gln173Ter)SNV Pathogenic 30827 rs387907024 7:141315364-141315364 7:141615564-141615564
6 AGK NM_018238.4(AGK):c.306T>G (p.Tyr102Ter)SNV Pathogenic 30828 rs1554401641 7:141311003-141311003 7:141611203-141611203
7 AGK NM_018238.4(AGK):c.841C>T (p.Arg281Ter)SNV Pathogenic 30829 rs387907025 7:141341162-141341162 7:141641362-141641362
8 AGK NM_018238.4(AGK):c.672C>G (p.Tyr224Ter)SNV Pathogenic 30830 rs771945804 7:141336763-141336763 7:141636963-141636963
9 AGK NM_018238.4(AGK):c.1131+5G>ASNV Pathogenic 30831 rs542547163 7:141351414-141351414 7:141651614-141651614
10 AGK NM_018238.4(AGK):c.409C>T (p.Arg137Ter)SNV Pathogenic 209130 rs746709222 7:141313964-141313964 7:141614164-141614164
11 AGK NM_018238.4(AGK):c.424-3C>GSNV Pathogenic 209129 rs766413410 7:141315268-141315268 7:141615468-141615468
12 AGK NM_018238.4(AGK):c.3G>C (p.Met1Ile)SNV Pathogenic 214076 rs863223895 7:141255269-141255269 7:141555469-141555469
13 AGK NM_018238.4(AGK):c.390+1G>ASNV Likely pathogenic 467793 rs777096695 7:141311088-141311088 7:141611288-141611288
14 AGK NM_018238.4(AGK):c.1211_1237del (p.Leu404_Lys412del)deletion Likely pathogenic 488465 rs1554405947 7:141352666-141352692 7:141652866-141652892
15 AGK NM_018238.4(AGK):c.1215dup (p.Phe406fs)duplication Likely pathogenic 617460 7:141352669-141352670 7:141652869-141652870
16 AGK NM_018238.4(AGK):c.72G>A (p.Trp24Ter)SNV Likely pathogenic 800899 7:141255338-141255338 7:141555538-141555538
17 AGK NM_018238.4(AGK):c.877+2T>GSNV Likely pathogenic 804407 7:141341200-141341200 7:141641400-141641400
18 AGK NC_000007.14:g.141621734_141621735AT[1]short repeat Likely pathogenic 873475 7:141321534-141321535 7:141621734-141621735
19 AGK NM_018238.4(AGK):c.684G>A (p.Gly228=)SNV Conflicting interpretations of pathogenicity 514781 rs150732826 7:141336775-141336775 7:141636975-141636975
20 AGK NM_018238.4(AGK):c.1141_1142dup (p.Ser382fs)duplication Conflicting interpretations of pathogenicity 524160 rs1554405928 7:141352592-141352593 7:141652792-141652793
21 AGK NM_018238.4(AGK):c.877+14C>TSNV Conflicting interpretations of pathogenicity 136319 rs41275003 7:141341212-141341212 7:141641412-141641412
22 AGK NM_018238.4(AGK):c.863C>T (p.Ala288Val)SNV Conflicting interpretations of pathogenicity 214070 rs763068104 7:141341184-141341184 7:141641384-141641384
23 AGK NM_018238.4(AGK):c.1088C>T (p.Thr363Met)SNV Conflicting interpretations of pathogenicity 214079 rs142069429 7:141351366-141351366 7:141651566-141651566
24 AGK NM_018238.4(AGK):c.424-11T>CSNV Conflicting interpretations of pathogenicity 359056 rs200973491 7:141315260-141315260 7:141615460-141615460
25 AGK NM_018238.4(AGK):c.727-9C>TSNV Conflicting interpretations of pathogenicity 214067 rs199977261 7:141341039-141341039 7:141641239-141641239
26 AGK NM_018238.4(AGK):c.1098C>T (p.Leu366=)SNV Conflicting interpretations of pathogenicity 359066 rs369042931 7:141351376-141351376 7:141651576-141651576
27 AGK NM_018238.4(AGK):c.-14-3T>CSNV Conflicting interpretations of pathogenicity 383284 rs371437227 7:141255250-141255250 7:141555450-141555450
28 AGK NM_018238.4(AGK):c.877+15G>ASNV Conflicting interpretations of pathogenicity 381287 rs201052151 7:141341213-141341213 7:141641413-141641413
29 AGK NM_018238.4(AGK):c.1131+11A>GSNV Conflicting interpretations of pathogenicity 377453 rs202069684 7:141351420-141351420 7:141651620-141651620
30 AGK NM_018238.4(AGK):c.*82_*83deldeletion Uncertain significance 359067 rs886062021 7:141352805-141352806 7:141653005-141653006
31 AGK NM_018238.4(AGK):c.*1233_*1236deldeletion Uncertain significance 359082 rs886062028 7:141353956-141353959 7:141654156-141654159
32 AGK NM_018238.4(AGK):c.*1237G>ASNV Uncertain significance 359083 rs202211411 7:141353961-141353961 7:141654161-141654161
33 AGK NM_018238.4(AGK):c.*1319G>ASNV Uncertain significance 359086 rs535922151 7:141354043-141354043 7:141654243-141654243
34 AGK NM_018238.4(AGK):c.*1331_*1334deldeletion Uncertain significance 359087 rs886062030 7:141354052-141354055 7:141654252-141654255
35 AGK NM_018238.4(AGK):c.763A>G (p.Thr255Ala)SNV Uncertain significance 359062 rs886062020 7:141341084-141341084 7:141641284-141641284
36 AGK NM_018238.4(AGK):c.963G>A (p.Gln321=)SNV Uncertain significance 359064 rs746403177 7:141341696-141341696 7:141641896-141641896
37 AGK NM_018238.4(AGK):c.*319deldeletion Uncertain significance 359070 rs142235678 7:141353043-141353043 7:141653243-141653243
38 AGK NM_018238.4(AGK):c.*354_*356CTT[1]short repeat Uncertain significance 359072 rs886062023 7:141353077-141353079 7:141653277-141653279
39 AGK NM_018238.4(AGK):c.*365G>ASNV Uncertain significance 359073 rs886062024 7:141353089-141353089 7:141653289-141653289
40 AGK NM_018238.4(AGK):c.*1301C>TSNV Uncertain significance 359084 rs553433680 7:141354025-141354025 7:141654225-141654225
41 AGK NM_018238.4(AGK):c.803C>A (p.Thr268Asn)SNV Uncertain significance 214068 rs142779190 7:141341124-141341124 7:141641324-141641324
42 AGK NM_018238.4(AGK):c.*1127C>ASNV Uncertain significance 359079 rs886062027 7:141353851-141353851 7:141654051-141654051
43 AGK NM_018238.4(AGK):c.-162G>ASNV Uncertain significance 359050 rs148553992 7:141251087-141251087 7:141551287-141551287
44 AGK NM_018238.4(AGK):c.-100G>ASNV Uncertain significance 359052 rs552726046 7:141251149-141251149 7:141551349-141551349
45 AGK NM_018238.4(AGK):c.-36G>ASNV Uncertain significance 359055 rs570988835 7:141251213-141251213 7:141551413-141551413
46 AGK NM_018238.4(AGK):c.637T>C (p.Ser213Pro)SNV Uncertain significance 359060 rs886062019 7:141333749-141333749 7:141633949-141633949
47 AGK NM_018238.4(AGK):c.*933C>TSNV Uncertain significance 359075 rs73171606 7:141353657-141353657 7:141653857-141653857
48 AGK NM_018238.4(AGK):c.*967T>CSNV Uncertain significance 359076 rs886062026 7:141353691-141353691 7:141653891-141653891
49 AGK NM_018238.4(AGK):c.*1024C>TSNV Uncertain significance 359078 rs78124534 7:141353748-141353748 7:141653948-141653948
50 AGK NM_018238.4(AGK):c.*1308_*1311deldeletion Uncertain significance 359085 rs886062029 7:141354029-141354032 7:141654229-141654232

Expression for Sengers Syndrome

Search GEO for disease gene expression data for Sengers Syndrome.

Pathways for Sengers Syndrome

Pathways related to Sengers Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.89 TIMM50 TIMM22 TIMM10B TAZ SLC25A4 DNAJC19

GO Terms for Sengers Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.22 TMEM70 TIMM50 TIMM29 TIMM22 TAZ SLC25A4
2 membrane GO:0016020 10.16 TMEM70 TIMM50 TIMM29 TIMM22 TIMM10B TAZ
3 mitochondrion GO:0005739 9.93 TMEM70 TIMM50 TIMM29 TIMM22 TIMM10B TAZ
4 mitochondrial intermembrane space GO:0005758 9.54 TIMM29 TIMM10B AGK
5 integral component of mitochondrial membrane GO:0032592 9.32 TMEM70 SLC25A4
6 mitochondrial inner membrane GO:0005743 9.32 TMEM70 TIMM50 TIMM29 TIMM22 TIMM10B TAZ
7 TIM22 mitochondrial import inner membrane insertion complex GO:0042721 9.26 TIMM29 TIMM22 TIMM10B AGK

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.65 TIMM50 TIMM29 TIMM22 TIMM10B DNAJC19
2 ATP transport GO:0015867 9.32 SLC25A4 SLC25A24
3 protein import into mitochondrial matrix GO:0030150 9.16 TIMM50 DNAJC19
4 protein targeting to mitochondrion GO:0006626 9.13 TIMM22 TIMM10B DNAJC19
5 protein import into mitochondrial inner membrane GO:0045039 8.8 TIMM29 TIMM22 AGK

Sources for Sengers Syndrome

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
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