MCID: CNG466
MIFTS: 29

Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome

Categories: Cardiovascular diseases, Eye diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial...

MalaCards integrated aliases for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome:

Name: Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 59
Cataract and Cardiomyopathy 72
Sengers Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
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;

Classifications:



External Ids:

MESH via Orphanet 45 C538280
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1859317
Orphanet 59 ORPHA1369
UMLS 72 C1859317

Summaries for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial...

MalaCards based summary : Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome, also known as cataract and cardiomyopathy, is related to sengers syndrome and hypertrophic cardiomyopathy, and has symptoms including muscle weakness and fatigue. An important gene associated with Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome is AGK (Acylglycerol Kinase). Affiliated tissues include eye, heart and liver, and related phenotypes are nystagmus and cataract

Related Diseases for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial...

Diseases related to Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 sengers syndrome 33.3 SLC25A4 AGK
2 hypertrophic cardiomyopathy 10.6
3 cataract 10.6
4 lactic acidosis 10.5
5 myopathy 10.5
6 atrial standstill 1 10.2
7 mitochondrial myopathy 10.2
8 alacrima, achalasia, and mental retardation syndrome 10.1
9 chorioamnionitis 10.1
10 autosomal recessive disease 10.1
11 meningocele 10.1
12 mitochondrial encephalomyopathy 10.1
13 pathologic nystagmus 10.1
14 hypereosinophilic syndrome 10.1
15 hypotonia 10.1
16 cardiogenic shock 10.1
17 mitochondrial metabolism disease 9.2 SLC25A4 AGK

Graphical network of the top 20 diseases related to Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome:



Diseases related to Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome

Symptoms & Phenotypes for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial...

Human phenotypes related to Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
3 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
4 hypertrophic cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001639
5 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
6 lactic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003128
7 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
8 corneal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001131
9 abnormal electroretinogram 59 32 occasional (7.5%) Occasional (29-5%) HP:0000512
10 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501

UMLS symptoms related to Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome:


muscle weakness, fatigue

Drugs & Therapeutics for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial...

Search Clinical Trials , NIH Clinical Center for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome

Genetic Tests for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial...

Anatomical Context for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial...

MalaCards organs/tissues related to Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome:

41
Eye, Heart, Liver, Testes

Publications for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial...

Articles related to Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome:

(show all 32)
# Title Authors PMID Year
1
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. 38 71
22284826 2012
2
Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome. 38 71
15168109 2004
3
Mitochondrial DNA Maintenance Defects Overview 71
29517884 2018
4
Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy. 71
25732997 2015
5
Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. 71
22187496 2012
6
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 71
22277967 2012
7
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. 71
16155110 2005
8
Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect. 71
8479824 1993
9
Adenine nucleotide translocator deficiency in muscle: potential therapeutic value of vitamin E. 71
7609449 1993
10
[Infantile cataract, hypertrophic cardiomyopathy and lactic acidosis following minor muscular exertion--a little known metabolic disease]. 71
3560758 1986
11
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing. 38
31303091 2019
12
The role of mitochondrial cardiolipin in heart function and its implication in cardiac disease. 38
30837070 2019
13
Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction. 38
29682452 2018
14
Sustained intraoperative bradycardia revealing Sengers syndrome. 38
29416160 2018
15
Comment on 'Sustained intraoperative bradycardia revealing Sengers syndrome'. 38
29416161 2018
16
Mutation in the AGK gene in two siblings with unusual Sengers syndrome. 38
28868593 2017
17
Sustained intraoperative bradycardia revealing Sengers syndrome. 38
29217863 2017
18
Acylglycerol Kinase: Mitochondrial Protein Transport Meets Lipid Biosynthesis. 38
28867158 2017
19
Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria. 38
28712724 2017
20
Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex. 38
28712726 2017
21
Mitochondrial Cardiomyopathies. 38
27504452 2016
22
Sengers syndrome: a unique cause of severe hypertrophic cardiomyopathy. 38
26231691 2015
23
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. 38
25595726 2015
24
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. 38
25178427 2015
25
Lipid metabolism in mitochondrial membranes. 38
25082432 2015
26
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. 38
25208612 2014
27
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. 38
22814679 2013
28
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. 38
23266196 2013
29
Neuroradiologic findings in Sengers syndrome. 38
18639755 2008
30
Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome. 38
12112053 2002
31
Undiagnosed cardiomyopathy in a neonate: significance of low oxygen saturation during anaesthesia. 38
11573538 2001
32
Cardiac transplantation for hypertrophic cardiomyopathy associated with Sengers syndrome. 38
8526648 1995

Variations for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial...

ClinVar genetic disease variations for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome:

6 (show top 50) (show all 62)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 AGK NM_018238.4(AGK): c.141+2T> C single nucleotide variant Pathogenic rs1554399572 7:141292987-141292987 7:141593187-141593187
2 AGK NM_018238.4(AGK): c.1170T> G (p.Tyr390Ter) single nucleotide variant Pathogenic rs1554405935 7:141352625-141352625 7:141652825-141652825
3 AGK NM_018238.4(AGK): c.975+1G> T single nucleotide variant Pathogenic rs868431923 7:141341709-141341709 7:141641909-141641909
4 AGK NM_018238.4(AGK): c.517C> T (p.Gln173Ter) single nucleotide variant Pathogenic rs387907024 7:141315364-141315364 7:141615564-141615564
5 AGK NM_018238.4(AGK): c.306T> G (p.Tyr102Ter) single nucleotide variant Pathogenic rs1554401641 7:141311003-141311003 7:141611203-141611203
6 AGK NM_018238.4(AGK): c.841C> T (p.Arg281Ter) single nucleotide variant Pathogenic rs387907025 7:141341162-141341162 7:141641362-141641362
7 AGK NM_018238.4(AGK): c.672C> G (p.Tyr224Ter) single nucleotide variant Pathogenic rs771945804 7:141336763-141336763 7:141636963-141636963
8 AGK NM_018238.4(AGK): c.1131+5G> A single nucleotide variant Pathogenic 7:141351414-141351414 7:141651614-141651614
9 AGK NM_018238.4(AGK): c.298-2A> G single nucleotide variant Pathogenic rs1554401640 7:141310993-141310993 7:141611193-141611193
10 AGK NM_018238.4(AGK): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs746709222 7:141313964-141313964 7:141614164-141614164
11 AGK NM_018238.4(AGK): c.424-3C> G single nucleotide variant Pathogenic rs766413410 7:141315268-141315268 7:141615468-141615468
12 AGK NM_018238.4(AGK): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs863223895 7:141255269-141255269 7:141555469-141555469
13 AGK NM_018238.4(AGK): c.1211_1237del (p.Leu404_Lys412del) deletion Likely pathogenic rs1554405947 7:141352666-141352692 7:141652866-141652892
14 AGK NM_018238.4(AGK): c.390+1G> A single nucleotide variant Likely pathogenic rs777096695 7:141311088-141311088 7:141611288-141611288
15 AGK NM_018238.4(AGK): c.1215dup (p.Phe406fs) duplication Likely pathogenic 7:141352670-141352670 7:141652870-141652870
16 AGK NM_018238.4(AGK): c.424-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs113599212 7:141315266-141315266 7:141615466-141615466
17 AGK NM_018238.4(AGK): c.424-4C> G single nucleotide variant Conflicting interpretations of pathogenicity rs113085050 7:141315267-141315267 7:141615467-141615467
18 AGK NM_018238.4(AGK): c.804C> T (p.Thr268=) single nucleotide variant Conflicting interpretations of pathogenicity rs543549513 7:141341125-141341125 7:141641325-141641325
19 AGK NM_018238.4(AGK): c.877+14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs41275003 7:141341212-141341212 7:141641412-141641412
20 AGK NM_018238.4(AGK): c.863C> T (p.Ala288Val) single nucleotide variant Conflicting interpretations of pathogenicity rs763068104 7:141341184-141341184 7:141641384-141641384
21 AGK NM_018238.4(AGK): c.424-11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs200973491 7:141315260-141315260 7:141615460-141615460
22 AGK NM_018238.4(AGK): c.1141_1142dup (p.Ser382fs) duplication Conflicting interpretations of pathogenicity rs1554405928 7:141352596-141352597 7:141652796-141652797
23 AGK NM_018238.4(AGK): c.257C> G (p.Pro86Arg) single nucleotide variant Uncertain significance rs762680550 7:141301040-141301040 7:141601240-141601240
24 AGK NM_018238.4(AGK): c.637T> C (p.Ser213Pro) single nucleotide variant Uncertain significance rs886062019 7:141333749-141333749 7:141633949-141633949
25 AGK NM_018238.4(AGK): c.*933C> T single nucleotide variant Uncertain significance rs73171606 7:141353657-141353657 7:141653857-141653857
26 AGK NM_018238.4(AGK): c.*967T> C single nucleotide variant Uncertain significance rs886062026 7:141353691-141353691 7:141653891-141653891
27 AGK NM_018238.4(AGK): c.*1024C> T single nucleotide variant Uncertain significance rs78124534 7:141353748-141353748 7:141653948-141653948
28 AGK NM_018238.4(AGK): c.*1308_*1311del deletion Uncertain significance rs886062029 7:141354032-141354035 7:141654232-141654235
29 AGK NM_018238.4(AGK): c.-88G> C single nucleotide variant Uncertain significance rs886062018 7:141251161-141251161 7:141551361-141551361
30 AGK NM_018238.4(AGK): c.743A> C (p.His248Pro) single nucleotide variant Uncertain significance rs150160397 7:141341064-141341064 7:141641264-141641264
31 AGK NM_018238.4(AGK): c.1052G> A (p.Arg351Gln) single nucleotide variant Uncertain significance rs374861637 7:141351330-141351330 7:141651530-141651530
32 AGK NM_018238.4(AGK): c.*265G> A single nucleotide variant Uncertain significance rs886062022 7:141352989-141352989 7:141653189-141653189
33 AGK NM_018238.4(AGK): c.1088C> T (p.Thr363Met) single nucleotide variant Uncertain significance rs142069429 7:141351366-141351366 7:141651566-141651566
34 AGK NM_018238.4(AGK): c.-139G> A single nucleotide variant Uncertain significance rs886062017 7:141251110-141251110 7:141551310-141551310
35 AGK NM_018238.4(AGK): c.-75G> C single nucleotide variant Uncertain significance rs560194759 7:141251174-141251174 7:141551374-141551374
36 AGK NM_018238.4(AGK): c.803C> A (p.Thr268Asn) single nucleotide variant Uncertain significance rs142779190 7:141341124-141341124 7:141641324-141641324
37 AGK NM_018238.4(AGK): c.963G> A (p.Gln321=) single nucleotide variant Uncertain significance rs746403177 7:141341696-141341696 7:141641896-141641896
38 AGK NM_018238.4(AGK): c.1098C> T (p.Leu366=) single nucleotide variant Uncertain significance rs369042931 7:141351376-141351376 7:141651576-141651576
39 AGK NM_018238.4(AGK): c.*82_*83del deletion Uncertain significance rs886062021 7:141352806-141352807 7:141653006-141653007
40 AGK NM_018238.4(AGK): c.*1127C> A single nucleotide variant Uncertain significance rs886062027 7:141353851-141353851 7:141654051-141654051
41 AGK NM_018238.4(AGK): c.-162G> A single nucleotide variant Uncertain significance rs148553992 7:141251087-141251087 7:141551287-141551287
42 AGK NM_018238.4(AGK): c.-100G> A single nucleotide variant Uncertain significance rs552726046 7:141251149-141251149 7:141551349-141551349
43 AGK NM_018238.4(AGK): c.-36G> A single nucleotide variant Uncertain significance rs570988835 7:141251213-141251213 7:141551413-141551413
44 AGK NM_018238.4(AGK): c.*319del deletion Uncertain significance rs142235678 7:141353043-141353043 7:141653243-141653243
45 AGK NM_018238.4(AGK): c.*354_*356CTT[1] short repeat Uncertain significance rs886062023 7:141353081-141353083 7:141653281-141653283
46 AGK NM_018238.4(AGK): c.*365G> A single nucleotide variant Uncertain significance rs886062024 7:141353089-141353089 7:141653289-141653289
47 AGK NM_018238.4(AGK): c.*992G> A single nucleotide variant Uncertain significance rs191308473 7:141353716-141353716 7:141653916-141653916
48 AGK NM_018238.4(AGK): c.*1233_*1236del deletion Uncertain significance rs886062028 7:141353957-141353960 7:141654157-141654160
49 AGK NM_018238.4(AGK): c.*1237G> A single nucleotide variant Uncertain significance rs202211411 7:141353961-141353961 7:141654161-141654161
50 AGK NM_018238.4(AGK): c.*1319G> A single nucleotide variant Uncertain significance rs535922151 7:141354043-141354043 7:141654243-141654243

Expression for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial...

Search GEO for disease gene expression data for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome.

Pathways for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial...

GO Terms for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial...

Cellular components related to Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.96 SLC25A4 AGK
2 mitochondrial inner membrane GO:0005743 8.62 SLC25A4 AGK

Sources for Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial...

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