Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cardiomyopathies (D009202)
Parent Node: Cataract (D002386)
..Starting node ..Cataract and cardiomyopathy (C538280)
Child Nodes:
Sister Nodes:
..Absent corpus callosum cataract immunodeficiency (C535566)
..Adams Nance syndrome (C538224)
..Adult i Blood Group with Congenital Cataract (C566214)
..Alpha-B Crystallinopathy (C563848)
..Alpha-B Crystallinopathy with Cataract (C563849)
..Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract (C566280)
..Anterior polar cataract 2 (C537774)
..Arachnodactyly ataxia cataract aminoaciduria mental retardation (C537424)
..Ataxia-Microcephaly-Cataract Syndrome (C563086)
..Autosomal recessive nonsyndromic congenital nuclear cataract (C537298)
..Bassoe syndrome (C537661)
..Bhaskar Jagannathan syndrome (C535437)
..CAHMR syndrome (C537959)
..CAMFAK syndrome (C537965)
..Capsule Opacification (D058442)
..CATARACT 23 (OMIM:610425)
..CATARACT 3, MULTIPLE TYPES (OMIM:601547)
..CATARACT 32, MULTIPLE TYPES (OMIM:115650)
..CATARACT 4, MULTIPLE TYPES (OMIM:115700)
..CATARACT 6, MULTIPLE TYPES (OMIM:116600)
..Cataract and cardiomyopathy (C538280)
..Cataract and congenital ichthyosis (C538281)
..Cataract anterior polar dominant (C538282)
..Cataract ataxia deafness (C538283)
..Cataract congenital dominant non nuclear (C538284)
..Cataract congenital Volkmann type (C538285)
..Cataract Hutterite type (C538286)
..Cataract microcornea syndrome (C538287)
..Cataract, Age-Related Cortical, 1 (C563812)
..Cataract, Age-Related Cortical, 2 (C567814)
..Cataract, Age-Related Nuclear (C563333)
..Cataract, alopecia, sclerodactyly (C535336)
..Cataract, Autosomal Dominant (C565815)
..Cataract, Autosomal Dominant Nuclear (C565137)
..Cataract, Autosomal Dominant, Multiple Types 1 (C566909)
..Cataract, Autosomal Recessive Congenital 1 (C565136)
..Cataract, autosomal recessive congenital 2 (C535337)
..Cataract, Autosomal Recessive Congenital 3 (C567835)
..Cataract, Autosomal Recessive, Early-Onset, Pulverulent (C565298)
..Cataract, Central Saccular, With Sutural Opacities (C565301)
..Cataract, Congenital Nuclear, Autosomal Recessive 1 (C563728)
..Cataract, Congenital Nuclear, Autosomal Recessive 2 (C565725)
..Cataract, Congenital Nuclear, Autosomal Recessive 3 (C566923)
..CATARACT, CONGENITAL OR JUVENILE (OMIM:212500)
..Cataract, Congenital Zonular, with Sutural Opacities (C563435)
..Cataract, Congenital, Cerulean Type, 2 (C563294)
..Cataract, Congenital, Cerulean Type, 3 (C563819)
..Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy (C564353)
..Cataract, congenital, with microcornea or slight microphthalmia (C535338)
..Cataract, Coppock-Like (C565133)
..Cataract, Cortical Pulverulent, Late-Onset (C563604)
..Cataract, Cortical, Juvenile-Onset (C566955)
..Cataract, Crystalline Aculeiform (C566162)
..Cataract, Crystalline Coralliform (C566161)
..Cataract, Floriform (C566160)
..Cataract, Juvenile, With Microcornea And Glucosuria (C567434)
..Cataract, Lamellar 2 (C566481)
..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..Cataract, Nuclear Diffuse Nonprogressive (C566157)
..Cataract, Nuclear Progressive (C564596)
..Cataract, Nuclear Total (C566156)
..Cataract, Polymorphic and Lamellar (C563603)
..Cataract, posterior polar, 1 (C535339)
..Cataract, Posterior Polar, 2 (C565134)
..Cataract, posterior polar, 3 (C535343)
..Cataract, posterior polar, 4 (C535344)
..Cataract, posterior polar, 5 (C535340)
..Cataract, Progressive Polymorphic Cortical (C565130)
..Cataract, Pulverulent (C563426)
..Cataract, Pulverulent, Juvenile-Onset (C565703)
..Cataract, Punctate, Progressive Juvenile-Onset (C565131)
..Cataract, Sutural, with Punctate and Cerulean Opacities (C564619)
..Cataract, Variable Zonular Pulverulent (C565132)
..Cataract, zonular (C535342)
..Cataract, Zonular Central Nuclear (C565135)
..Cataract, Zonular Pulverulent 1 (C566158)
..Cataract, Zonular Pulverulent 3 (C566608)
..Cataracts, ataxia, short stature, and mental retardation (C535345)
..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
..Cerebrooculofacioskeletal Syndrome 2 (C565185)
..Cerebrooculofacioskeletal Syndrome 4 (C565184)
..Cerulean cataract (C537955)
..Cochleosaccular degeneration of the inner ear and progressive cataracts (C536432)
..Congenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)
..Cornea guttata with anterior polar cataract (C535471)
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Crome syndrome (C536216)
..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..Dementia, familial Danish (C538209)
..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis (C563430)
..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..Fine-Lubinsky syndrome (C537933)
..Flynn Aird syndrome (C537066)
..Goldstein Hutt syndrome (C537282)
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
..Hydrocephalus, endocardial fibroelastosis, and cataracts (C535855)
..Hyperferritinemia, hereditary, with congenital cataracts (C538137)
..Hypertrophic Neuropathy And Cataract (C565490)
..Kahrizi Syndrome (C567196)
..Karandikar Maria Kamble syndrome (C537009)
..Kozlowski Rafinski Klicharska syndrome (C537509)
..Krasnow Qazi syndrome (C537616)
..Leg, Absence Deformity of, with Congenital Cataract (C565442)
..Leukodystrophy, Hypomyelinating, 5 (C567166)
..Lipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
..Lubinsky syndrome (C543092)
..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
..Marshall syndrome (C536025)
..Martsolf syndrome (C536028)
..Microcephalic primordial dwarfism Toriello type (C537321)
..Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..Microphthalmia, Cataracts, and Iris Abnormalities (C566448)
..Microphthalmia, Isolated, with Cataract 1 (C563582)
..Microphthalmia, Isolated, with Cataract 2 (C565876)
..Microphthalmia, Isolated, with Cataract 3 (C564452)
..Microphthalmia, Isolated, with Cataract 4 (C566480)
..Microphthalmia, syndromic 2 (C537465)
..Mousa Al din Al Nassar syndrome (C536989)
..Muscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)
..Nance-Horan syndrome (C538336)
..Nathalie syndrome (C538342)
..O'Donnell Pappas syndrome (C537858)
..Optic atrophy and cataract, autosomal dominant (C537128)
..Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..Pavone Fiumara Rizzo syndrome (C536313)
..Peters anomaly with cataract (C537885)
..Polycystic Kidney, Cataract, and Congenital Blindness (C564882)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Premature aging, Okamoto type (C535270)
..Schaap Taylor Baraitser syndrome (C536626)
..Seemanova Lesny syndrome (C537536)
..Seow Najjar syndrome (C537584)
..Singh Chhaparwal Dhanda syndrome (C537341)
..Slavotinek Pike Mills Hurst syndrome (C536672)
..Spastic paraplegia 9, autosomal dominant (C536868)
..Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..Warburg Sjo Fledelius syndrome (C536681)
..Wellesley Carmen French syndrome (C536691)
..Zonular cataract and nystagmus (C536727)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1815

Name:

Cataract and cardiomyopathy

Definition:

Alternative IDs:

ParentIDs:

MESH:D002386|MESH:D009202

TreeNumbers:

C11.510.245/C538280 |C14.280.238/C538280

Synonyms:

Cardiomyopathy and cataract |Sengers syndrome

Slim Mappings:

Cardiovascular disease|Eye disease

Reference:

MedGen: C538280
MeSH: C538280
OMIM: 212350;

Genes: AGK;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0003535	3-Methylglutaconic aciduria
4	HP:0000519	Developmental cataract
5	HP:0003388	Easy fatigability
6	HP:0003546	Exercise intolerance
7	HP:0004901	Exercise-induced lactic acidemia
8	HP:0012378	Fatigue
9	HP:0001290	Generalized hypotonia
10	HP:0000501	Glaucoma
11	HP:0001510	Growth delay
12	HP:0001639	Hypertrophic cardiomyopathy
13	HP:0001252	Hypotonia
14	HP:0002151	Increased serum lactate
15	HP:0003737	Mitochondrial myopathy
16	HP:0001270	Motor delay
17	HP:0001324	Muscle weakness
18	HP:0003198	Myopathy
19	HP:0000545	Myopia
20	HP:0000639	Nystagmus
21	HP:0002093	Respiratory insufficiency
22	HP:0000486	Strabismus
23	HP:0001873	Thrombocytopenia	HP:0040283
24	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_018238.3(AGK):c.409C>T (p.Arg137Ter)	55750	AGK	Pathogenic	746709222	RCV000191059;	N	MedGen:C1859317,OMIM:212350,ORPHA:1369	7	141313964	141313964	NM_018238.3:c.409C>T	NP_060708.1:p.Arg137Ter	NC_000007.13:g.141313964C>T	-	C1859317 212350 Cataract and cardiomyopathy
NM_018238.3(AGK):c.424-3C>G	55750	AGK	Pathogenic	766413410	RCV000191058; RCV000024610;	N	MedGen:C1859317,OMIM:212350,ORPHA:1369; MedGen:C3553494,OMIM:614691	7	141315268	141315268	NM_018238.3:c.424-3C>G		NC_000007.13:g.141315268C>G	OMIM Allelic Variant:610345.0010	C1859317 212350 Cataract and cardiomyopathy; C3553494 614691 Cataract, autosomal recessive congenital 5
NM_018238.3(AGK):c.517C>T (p.Gln173Ter)	55750	AGK	Pathogenic	387907024	RCV000023812;	N	MedGen:C1859317,OMIM:212350,ORPHA:1369	7	141315364	141315364	NM_018238.3:c.517C>T	NP_060708.1:p.Gln173Ter	NC_000007.13:g.141315364C>T	OMIM Allelic Variant:610345.0005	C1859317 212350 Cataract and cardiomyopathy
NM_018238.3(AGK):c.841C>T (p.Arg281Ter)	55750	AGK	Pathogenic	387907025	RCV000023814;	N	MedGen:C1859317,OMIM:212350,ORPHA:1369	7	141341162	141341162	NM_018238.3:c.841C>T	NP_060708.1:p.Arg281Ter	NC_000007.13:g.141341162C>T	OMIM Allelic Variant:610345.0007	C1859317 212350 Cataract and cardiomyopathy