MCID: CNG466
MIFTS: 25

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 73
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:

Orphanet 59 ORPHA1369
MESH via Orphanet 45 C538280
UMLS via Orphanet 74 C1859317
ICD10 via Orphanet 34 Q87.8
UMLS 73 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 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:

# Related Disease Score Top Affiliating Genes
1 sengers syndrome 33.6 AGK SLC25A4
2 hypertrophic cardiomyopathy 10.1
3 lactic acidosis 10.0
4 mitochondrial metabolism disease 9.7 AGK SLC25A4

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 corneal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001131
7 abnormal electroretinogram 59 32 occasional (7.5%) Occasional (29-5%) HP:0000512
8 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
9 lactic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003128
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, Liver

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

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

(show all 13)
# Title Authors Year
1
Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction. ( 29682452 )
2018
2
Sustained intraoperative bradycardia revealing Sengers syndrome. ( 29416160 )
2018
3
Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex. ( 28712726 )
2017
4
Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria. ( 28712724 )
2017
5
Sustained intraoperative bradycardia revealing Sengers syndrome. ( 29217863 )
2017
6
Mutation in the AGK gene in two siblings with unusual Sengers syndrome. ( 28868593 )
2017
7
Sengers syndrome: a unique cause of severe hypertrophic cardiomyopathy. ( 26231691 )
2015
8
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. ( 25208612 )
2014
9
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. ( 23266196 )
2013
10
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. ( 22284826 )
2012
11
Neuroradiologic findings in Sengers syndrome. ( 18639755 )
2008
12
Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome. ( 12112053 )
2002
13
Cardiac transplantation for hypertrophic cardiomyopathy associated with Sengers syndrome. ( 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 119)
# Gene Variation Type Significance SNP ID Assembly Location
1 AGK NM_018238.3(AGK): c.306T> G (p.Tyr102Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 141611203: 141611203
2 AGK NM_018238.3(AGK): c.306T> G (p.Tyr102Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 141311003: 141311003
3 AGK NM_018238.3(AGK): c.141+2T> C single nucleotide variant Pathogenic GRCh38 Chromosome 7, 141593187: 141593187
4 AGK NM_018238.3(AGK): c.141+2T> C single nucleotide variant Pathogenic GRCh37 Chromosome 7, 141292987: 141292987
5 AGK NM_018238.3(AGK): c.1170T> G (p.Tyr390Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 141652825: 141652825
6 AGK NM_018238.3(AGK): c.1170T> G (p.Tyr390Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 141352625: 141352625
7 AGK NM_018238.3(AGK): c.975+1G> T single nucleotide variant Pathogenic rs868431923 GRCh38 Chromosome 7, 141641909: 141641909
8 AGK NM_018238.3(AGK): c.975+1G> T single nucleotide variant Pathogenic rs868431923 GRCh37 Chromosome 7, 141341709: 141341709
9 AGK NM_018238.3(AGK): c.517C> T (p.Gln173Ter) single nucleotide variant Pathogenic rs387907024 GRCh37 Chromosome 7, 141315364: 141315364
10 AGK NM_018238.3(AGK): c.517C> T (p.Gln173Ter) single nucleotide variant Pathogenic rs387907024 GRCh38 Chromosome 7, 141615564: 141615564
11 AGK NM_018238.3(AGK): c.841C> T (p.Arg281Ter) single nucleotide variant Pathogenic rs387907025 GRCh37 Chromosome 7, 141341162: 141341162
12 AGK NM_018238.3(AGK): c.841C> T (p.Arg281Ter) single nucleotide variant Pathogenic rs387907025 GRCh38 Chromosome 7, 141641362: 141641362
13 AGK NM_018238.3(AGK): c.672C> G (p.Tyr224Ter) single nucleotide variant Pathogenic rs771945804 GRCh38 Chromosome 7, 141636963: 141636963
14 AGK NM_018238.3(AGK): c.672C> G (p.Tyr224Ter) single nucleotide variant Pathogenic rs771945804 GRCh37 Chromosome 7, 141336763: 141336763
15 AGK NM_018238.3(AGK): c.1131+5G> A single nucleotide variant Pathogenic
16 AGK NM_018238.3(AGK): c.101+5C> T single nucleotide variant Benign rs150421355 GRCh37 Chromosome 7, 141255372: 141255372
17 AGK NM_018238.3(AGK): c.101+5C> T single nucleotide variant Benign rs150421355 GRCh38 Chromosome 7, 141555572: 141555572
18 AGK NM_018238.3(AGK): c.877+14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs41275003 GRCh37 Chromosome 7, 141341212: 141341212
19 AGK NM_018238.3(AGK): c.877+14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs41275003 GRCh38 Chromosome 7, 141641412: 141641412
20 AGK NM_018238.3(AGK): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs746709222 GRCh37 Chromosome 7, 141313964: 141313964
21 AGK NM_018238.3(AGK): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs746709222 GRCh38 Chromosome 7, 141614164: 141614164
22 AGK NM_018238.3(AGK): c.424-3C> G single nucleotide variant Pathogenic rs766413410 GRCh37 Chromosome 7, 141315268: 141315268
23 AGK NM_018238.3(AGK): c.424-3C> G single nucleotide variant Pathogenic rs766413410 GRCh38 Chromosome 7, 141615468: 141615468
24 AGK NM_018238.3(AGK): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs863223895 GRCh37 Chromosome 7, 141255269: 141255269
25 AGK NM_018238.3(AGK): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs863223895 GRCh38 Chromosome 7, 141555469: 141555469
26 AGK NM_018238.3(AGK): c.17A> G (p.Lys6Arg) single nucleotide variant Benign/Likely benign rs148294392 GRCh37 Chromosome 7, 141255283: 141255283
27 AGK NM_018238.3(AGK): c.17A> G (p.Lys6Arg) single nucleotide variant Benign/Likely benign rs148294392 GRCh38 Chromosome 7, 141555483: 141555483
28 AGK NM_018238.3(AGK): c.803C> A (p.Thr268Asn) single nucleotide variant Uncertain significance rs142779190 GRCh37 Chromosome 7, 141341124: 141341124
29 AGK NM_018238.3(AGK): c.803C> A (p.Thr268Asn) single nucleotide variant Uncertain significance rs142779190 GRCh38 Chromosome 7, 141641324: 141641324
30 AGK NM_018238.3(AGK): c.863C> T (p.Ala288Val) single nucleotide variant Conflicting interpretations of pathogenicity rs763068104 GRCh37 Chromosome 7, 141341184: 141341184
31 AGK NM_018238.3(AGK): c.863C> T (p.Ala288Val) single nucleotide variant Conflicting interpretations of pathogenicity rs763068104 GRCh38 Chromosome 7, 141641384: 141641384
32 AGK NM_018238.3(AGK): c.1088C> T (p.Thr363Met) single nucleotide variant Uncertain significance rs142069429 GRCh37 Chromosome 7, 141351366: 141351366
33 AGK NM_018238.3(AGK): c.1088C> T (p.Thr363Met) single nucleotide variant Uncertain significance rs142069429 GRCh38 Chromosome 7, 141651566: 141651566
34 AGK NM_018238.3(AGK): c.-139G> A single nucleotide variant Uncertain significance rs886062017 GRCh38 Chromosome 7, 141551310: 141551310
35 AGK NM_018238.3(AGK): c.-139G> A single nucleotide variant Uncertain significance rs886062017 GRCh37 Chromosome 7, 141251110: 141251110
36 AGK NM_018238.3(AGK): c.-75G> C single nucleotide variant Uncertain significance rs560194759 GRCh37 Chromosome 7, 141251174: 141251174
37 AGK NM_018238.3(AGK): c.-75G> C single nucleotide variant Uncertain significance rs560194759 GRCh38 Chromosome 7, 141551374: 141551374
38 AGK NM_018238.3(AGK): c.424-11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs200973491 GRCh37 Chromosome 7, 141315260: 141315260
39 AGK NM_018238.3(AGK): c.424-11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs200973491 GRCh38 Chromosome 7, 141615460: 141615460
40 AGK NM_018238.3(AGK): c.637T> C (p.Ser213Pro) single nucleotide variant Uncertain significance rs886062019 GRCh37 Chromosome 7, 141333749: 141333749
41 AGK NM_018238.3(AGK): c.637T> C (p.Ser213Pro) single nucleotide variant Uncertain significance rs886062019 GRCh38 Chromosome 7, 141633949: 141633949
42 AGK NM_018238.3(AGK): c.*933C> T single nucleotide variant Uncertain significance rs73171606 GRCh37 Chromosome 7, 141353657: 141353657
43 AGK NM_018238.3(AGK): c.*933C> T single nucleotide variant Uncertain significance rs73171606 GRCh38 Chromosome 7, 141653857: 141653857
44 AGK NM_018238.3(AGK): c.*967T> C single nucleotide variant Uncertain significance rs886062026 GRCh37 Chromosome 7, 141353691: 141353691
45 AGK NM_018238.3(AGK): c.*967T> C single nucleotide variant Uncertain significance rs886062026 GRCh38 Chromosome 7, 141653891: 141653891
46 AGK NM_018238.3(AGK): c.*1024C> T single nucleotide variant Uncertain significance rs78124534 GRCh37 Chromosome 7, 141353748: 141353748
47 AGK NM_018238.3(AGK): c.*1024C> T single nucleotide variant Uncertain significance rs78124534 GRCh38 Chromosome 7, 141653948: 141653948
48 AGK NM_018238.3(AGK): c.*1308_*1311delAATT deletion Uncertain significance rs886062029 GRCh37 Chromosome 7, 141354032: 141354035
49 AGK NM_018238.3(AGK): c.*1308_*1311delAATT deletion Uncertain significance rs886062029 GRCh38 Chromosome 7, 141654232: 141654235
50 AGK NM_018238.3(AGK): c.-88G> C single nucleotide variant Uncertain significance rs886062018 GRCh37 Chromosome 7, 141251161: 141251161

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 AGK SLC25A4
2 mitochondrial inner membrane GO:0005743 8.62 AGK SLC25A4

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

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74 UMLS via Orphanet
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