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Gene: Alpk3 MGI:2151224

Gene Summary

Name:

alpha-kinase 3

Synonyms:

Midori

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
dilated heart left ventricle	Alpk3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
enlarged heart	Alpk3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Alpk3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased heart weight	Alpk3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
thick ventricular wall	Alpk3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.89×10^-15
increased heart left ventricle size	Alpk3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.96×10^-08
decreased cardiac muscle contractility	Alpk3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.90×10^-08

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Skeletal muscle	Wholemount images	heterozygote	100% (2 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	homozygote	0.0% (0 of 2)
Ear	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	homozygote	0.0% (0 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	homozygote	0.0% (0 of 2)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	homozygote	0.0% (0 of 2)
Forebrain	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	homozygote	0.0% (0 of 2)
Forelimb	N/A	heterozygote	50% (1 of 2)
Forelimb	N/A	homozygote	50% (1 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	homozygote	0.0% (0 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (2 of 2)
Heart	N/A	heterozygote	50% (1 of 2)
Heart	N/A	homozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	0.0% (0 of 2)
Hindbrain	N/A	homozygote	0.0% (0 of 2)
Hindlimb	N/A	heterozygote	50% (1 of 2)
Hindlimb	N/A	homozygote	50% (1 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	Not available
Lung	N/A	homozygote	0.0% (0 of 2)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	homozygote	0.0% (0 of 2)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	homozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	homozygote	0.0% (0 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	homozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	0.0% (0 of 2)
Tail somite	N/A	heterozygote	Not available
Tail somite	N/A	homozygote	50% (1 of 2)
Tail	N/A	heterozygote	50% (1 of 2)
Tail	N/A	homozygote	100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Echo

M-Mode Images

32 Images

View images

Adult LacZ

LacZ Images Wholemount

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

View images

Embryo LacZ

LacZ images wholemount

7 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

2 Images

View images

Human diseases caused by Alpk3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Alpk3 (1 diseases)
Human diseases predicted to be associated with Alpk3 (776 diseases)

The table below shows human diseases associated to Alpk3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cardiomyopathy, Familial Hypertrophic, 27		Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052

The table below shows human diseases predicted to be associated to Alpk3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Ethanolaminosis	Cardiomegaly	OMIM:227150
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl...	ORPHA:63273
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys...	OMIM:620236
Muscle Filaminopathy	Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A...	ORPHA:171445
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy	OMIM:615395
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,...	OMIM:611615
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness	ORPHA:320360
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Distal Myotilinopathy	Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn...	ORPHA:98911
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy	OMIM:610100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Atrial Fibrillation, Familial, 6	Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R...	OMIM:612201
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o...	ORPHA:399086
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m...	OMIM:609308
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle	OMIM:255100
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Muscular dystrophy, Cardiomyopathy	OMIM:309930
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E...	OMIM:300696
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,...	OMIM:619566
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus...	OMIM:619903
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly	OMIM:607685
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy...	OMIM:615352
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,...	OMIM:160500
Loeffler Endocarditis	Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit...	ORPHA:75566
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl...	OMIM:617336
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde...	ORPHA:34515
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Endocardial Fibroelastosis	Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do...	OMIM:617912
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc...	OMIM:300718
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy	OMIM:620270
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy	ORPHA:391457
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in...	ORPHA:86812
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu...	OMIM:616827
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle...	OMIM:612937
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy	OMIM:618243
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu...	OMIM:255160
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe...	OMIM:300580
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Increased muscle lipid content, Myopathy, Hepatomegaly	OMIM:610717
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals...	OMIM:619424
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arr...	OMIM:602390
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia	OMIM:616276
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture	OMIM:608540
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy	ORPHA:91130
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Increased variability in muscle fiber diameter	OMIM:613752
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i...	OMIM:619433
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss...	OMIM:613155
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type...	ORPHA:171433
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v...	OMIM:616501
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we...	ORPHA:1177
Hemochromatosis, Type 2B	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy	OMIM:613313
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:617184
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Distal amyotrophy, Myopathy	OMIM:232400
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy	ORPHA:295
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Cardiomyopathy	ORPHA:3222
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we...	ORPHA:171442
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia	ORPHA:324588
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa...	OMIM:212140
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia	OMIM:266500
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Hurler-Scheie Syndrome	Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly	ORPHA:93476
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy	OMIM:618229
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, EMG...	OMIM:615418
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Myopathy	ORPHA:26792
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card...	OMIM:300280
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca...	OMIM:618234
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy	OMIM:520000
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy	ORPHA:67048
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function	OMIM:619492
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Infantile Sialic Acid Storage Disease	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly	OMIM:269920
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia	OMIM:618815
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a...	OMIM:612954
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy	OMIM:252920
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric...	ORPHA:75249
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, Hypertrophic cardiomyopathy, Flexion contracture	OMIM:618237
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R...	ORPHA:422
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial...	ORPHA:329336
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Pulmonary arterial hypertension	OMIM:619003
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy	OMIM:612989
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath...	OMIM:235200
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Proximal Myopathy With Extrapyramidal Signs	Cardiomyopathy, Central core regions in muscle fibers, Increased variability in muscle fiber diam...	ORPHA:401768
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia, Hepatomegaly	OMIM:606069
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia	OMIM:249270
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr...	OMIM:265400
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:618228
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M...	ORPHA:254886
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:616896
Nephronophthisis 16	Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En...	OMIM:615382
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Polyarteritis Nodosa	Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension	ORPHA:767
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A...	OMIM:212138
Hec Syndrome	Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis	ORPHA:2119
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit...	ORPHA:3287
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy	OMIM:613561
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:618378
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art...	OMIM:161800
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:638
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left v...	OMIM:201475
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy	OMIM:617713
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric...	OMIM:619167
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies	OMIM:616549
Cyclic Vomiting Syndrome	Cardiomyopathy	OMIM:500007
Dihydrolipoamide Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:246900
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee...	ORPHA:3208
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur...	OMIM:615959
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo...	ORPHA:521411
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy	ORPHA:3173
Alg1-Cdg	Cardiomyopathy, Abnormal heart morphology	ORPHA:79327
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac...	OMIM:616866
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ...	OMIM:212112
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti...	OMIM:602541
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy	ORPHA:276556
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly	OMIM:619259
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom...	OMIM:255310
Pyruvate Dehydrogenase E3 Deficiency	Cardiomyopathy, Abnormal cardiac ventricular function, Hepatomegaly	ORPHA:2394
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Hemochromatosis, Type 3	Cardiomyopathy	OMIM:604250
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card...	ORPHA:98853
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail...	ORPHA:1194
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia	ORPHA:42
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di...	OMIM:253700
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly	ORPHA:99931
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo...	OMIM:609286
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ...	OMIM:615084
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Autosomal Dominant Optic Atrophy Plus Syndrome	Cardiomyopathy, Limb-girdle muscle weakness, Myopathy	ORPHA:1215
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia, Ac...	ORPHA:3386
Infantile Refsum Disease	Cardiomyopathy, Arrhythmia, Facial palsy, Hepatomegaly	ORPHA:772
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia	ORPHA:228305
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora...	ORPHA:88630
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities, Hypertrophic cardiomyopathy	OMIM:620326
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Arrhythmia, Hypertrophic cardiomyopathy	ORPHA:156
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly...	ORPHA:158687
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Noonan Syndrome 8	Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:615355
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy	ORPHA:276575
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati...	OMIM:234700
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy	OMIM:614879
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car...	OMIM:212350
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ...	OMIM:232500
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Generalized amyotrophy, Hypertrophic ca...	ORPHA:79279
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ...	OMIM:607598
Joubert Syndrome 32	Hypertrophic cardiomyopathy	OMIM:617757
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy	OMIM:618241
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot...	ORPHA:52430
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion...	ORPHA:272
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy	ORPHA:276580
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c...	ORPHA:565612
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy	OMIM:300438
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus...	OMIM:619705
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology	ORPHA:70472
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Splenomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomy...	OMIM:300842
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Cardiomyopathy	ORPHA:324525
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98855
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Cardiomyopathy, Hepatomegaly	ORPHA:79312
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98863
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Cardiomyopathy	OMIM:619046
Infantile Liver Failure Syndrome 2	Cardiomyopathy	OMIM:616483
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy	OMIM:610773
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula...	ORPHA:100080
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture	OMIM:618120
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Hypertrophic cardiomyopathy, Patent foramen ovale	OMIM:614582
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo...	OMIM:607155
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Hypertrophic cardiomyopathy, Portal hypertension, Hepatosplenomegaly	OMIM:619902
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth...	ORPHA:330001
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol...	ORPHA:368
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:369
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ...	OMIM:258450
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi...	ORPHA:746
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy	ORPHA:79230
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy	OMIM:600721
Aa Amyloidosis	Hepatomegaly, Enlarged kidney, Hypotension, Abnormal heart morphology	ORPHA:85445
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di...	ORPHA:363623
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology...	ORPHA:980
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Generalized amyotrophy, Weakness of f...	ORPHA:352447
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Hepatomegaly	ORPHA:27
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,...	ORPHA:465508
Leopard Syndrome 2	Hypertrophic cardiomyopathy	OMIM:611554
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy	OMIM:618437
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy	OMIM:619386
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage	ORPHA:280679
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy	ORPHA:544469
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula...	ORPHA:100082
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:611126
Pituitary Gigantism	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	ORPHA:99725
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Splenomegaly	OMIM:616651
Sandhoff Disease	Skeletal muscle atrophy, Orthostatic hypotension, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly,...	OMIM:268800
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber ...	OMIM:604377
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Distal amyotrophy	OMIM:617183
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature	OMIM:201470
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas...	OMIM:619313
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated...	OMIM:614921
Kearns-Sayre Syndrome	Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block	OMIM:530000
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Cornelia De Lange Syndrome 2	Hypertrophic cardiomyopathy	OMIM:300590
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:2701
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology	OMIM:618250
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly	OMIM:616897
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Macroglossia, Hypotension, Atrial septal defect, Patent foramen ovale	OMIM:615668
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated car...	ORPHA:367
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy	OMIM:618839
Penoscrotal Transposition	Cardiomyopathy	ORPHA:2842
Sickle Cell Disease	Hepatomegaly, Hypertension, Splenomegaly, Cardiomegaly	OMIM:603903
Beta-Thalassemia	Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:848
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension	ORPHA:401923
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal mu...	ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, Splenomegaly, ...	ORPHA:2348
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper...	OMIM:618775
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy	OMIM:620089
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca...	OMIM:230500
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Generalized amyotrophy, Skeletal muscle atrophy, Limb hypertonia	OMIM:617710
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent...	ORPHA:398124
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula...	ORPHA:97287
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Alg3-Cdg	Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita	ORPHA:79321
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Joint contracture	OMIM:614462
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph...	ORPHA:370959
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosi...	OMIM:615415
Combined Oxidative Phosphorylation Deficiency 57	Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest	OMIM:620167
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM...	ORPHA:99901
Refsum Disease	Heart block, Cardiomyopathy, Skeletal muscle atrophy, Splenomegaly	ORPHA:773
Isolated Atp Synthase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Cerebral ...	ORPHA:449285
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Combined Oxidative Phosphorylation Deficiency 5	Hypertrophic cardiomyopathy	OMIM:611719
Bone Dysplasia, Lethal Holmgren Type	Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:1842
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:5
Noonan Syndrome 5	Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis	OMIM:611553
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Cerebellar hemorrhage, Hepatomegaly	OMIM:251000
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J...	ORPHA:85443
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Scrub Typhus	Splenomegaly, Myocarditis, Hypotension	ORPHA:83317
Systemic Capillary Leak Syndrome	Myocarditis, Pericarditis, Arrhythmia, Hypotension	ORPHA:188
Propionic Acidemia	Hepatomegaly, Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia	OMIM:606054
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyo...	ORPHA:79086
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
Necrotizing Enterocolitis	Shock, Bradycardia, Hypotension, Abnormal heart morphology	ORPHA:391673
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Hepatosplenomegaly	ORPHA:353298
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Congestive heart failure, Rhabdomyolysis...	ORPHA:26791
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy	OMIM:618835
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi...	ORPHA:99147
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy	OMIM:252900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia	ORPHA:228308
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb...	OMIM:602782
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Lower limb amyotrophy	ORPHA:496790
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula...	ORPHA:100075
Noonan Syndrome 6	Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613224
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Wolfram Syndrome 1	Cardiomyopathy	OMIM:222300
Congenital Enterovirus Infection	Myocarditis, Cardiomyopathy, Pericardial effusion, Hypotension	ORPHA:292
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ...	ORPHA:365
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Myopathy, Hepatomegaly	OMIM:614922
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Neutral Lipid Storage Myopathy	Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failur...	ORPHA:98908
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia	OMIM:609015
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia...	ORPHA:247691
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se...	ORPHA:26793
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v...	OMIM:617022
Vici Syndrome	Cardiomyopathy	ORPHA:1493
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion...	OMIM:608836
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo...	ORPHA:183
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyop...	OMIM:615895
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:618810
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Pulmonic...	OMIM:616564
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Congenital Generalized Lipodystrophy	Hepatomegaly, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Hypertrophic c...	ORPHA:528
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy	OMIM:619121
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu...	ORPHA:2326
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellul...	ORPHA:98907
Hermansky-Pudlak Syndrome 1	Hematochezia, Cardiomyopathy, Epistaxis	OMIM:203300
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ...	ORPHA:500
Microcephaly 13, Primary, Autosomal Recessive	Restrictive cardiomyopathy	OMIM:616051
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra...	ORPHA:576
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly	ORPHA:349
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Pulmonic stenosis, Atrial septal defe...	OMIM:605275
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Mu...	ORPHA:2463
Aicardi-Goutieres Syndrome 1	Splenomegaly, Cardiomyopathy, Vasculitis, Hepatomegaly	OMIM:225750
Hurler Syndrome	Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Camptodactyly of finger, Splenome...	ORPHA:93473
Noonan Syndrome 7	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613706
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Rhabdomyolysis, Hypotension	OMIM:145600
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi...	ORPHA:3071
Legionnaires Disease	Pericarditis, Myocarditis, Splenomegaly, Endocarditis, Hypotension, Arrhythmia	ORPHA:549
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl...	ORPHA:258
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Hypotension	ORPHA:369873
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Tetralogy of Fallot, Abnormal cardiac septum morphology, Hypopla...	ORPHA:251071
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Splenomegaly, Aplas...	ORPHA:354
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Myocard...	ORPHA:3452
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori...	ORPHA:324
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Muscular dystrophy	ORPHA:88618
Agel Amyloidosis	Cardiomyopathy, Arrhythmia, Facial palsy, Orthostatic hypotension due to autonomic dysfunction	ORPHA:85448
Noonan Syndrome 4	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:610733
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Flexion contracture	OMIM:619383
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia	ORPHA:157
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Coenzyme Q10 Deficiency, Primary, 1	Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta...	OMIM:607426
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: m...	OMIM:164310
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy	ORPHA:70595
Friedreich Ataxia	Hand muscle atrophy, Cardiomyopathy	ORPHA:95
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Cardiac arrest, Acute rhabdomyolysis, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes...	OMIM:616878
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Cardiomyopathy	OMIM:616084
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy...	OMIM:130650
3-Methylglutaconic Aciduria Type 7	Cardiomyopathy	ORPHA:445038
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia	ORPHA:31824
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Cardiomyopathy, Abnormal cardiac septum morphology	OMIM:217980
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Cardio...	OMIM:607014
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Hypotension	ORPHA:99828
Usher Syndrome	Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology	ORPHA:886
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens...	ORPHA:892
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy	ORPHA:79330
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hypertrophic cardiomyopathy, Skeletal muscle steatosis	ORPHA:436271
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy	OMIM:618222
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart...	ORPHA:280365
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re...	ORPHA:550
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul...	ORPHA:100078
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Congestive heart failure, Splenomegaly, Flexion contracture, Macroglossia, Atrial s...	OMIM:617303
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple...	OMIM:252500
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture...	OMIM:253220
Hereditary Spherocytosis	Splenomegaly, Restrictive cardiomyopathy, Hepatomegaly	ORPHA:822
Perry Syndrome	Hypotension	ORPHA:178509
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Hypotension	ORPHA:361
Analbuminemia	Hypotension	OMIM:616000
Noonan Syndrome 14	Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca...	OMIM:619745
Martsolf Syndrome 1	Cardiomyopathy, Cardiac arrest, Congestive heart failure	OMIM:212720
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Weakness of facial musculature, Hypertrophic cardiomyopathy, Increased intramyocellular lipid dro...	OMIM:220110
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Abnormal tendon morpholo...	ORPHA:579
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:71212
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,...	ORPHA:391665
Nipah Virus Disease	Hypotension	ORPHA:99825
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:615471
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Splenomegaly, Cardiomyopathy	ORPHA:264580
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Generalized amyotrophy, Limb hypertonia	ORPHA:572798
Primary Hyperoxaluria	Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication	ORPHA:416
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Flexion contracture, Cardiomyopathy, Mitral ...	OMIM:253200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea...	ORPHA:505248
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:614052
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni...	OMIM:309801
Cutaneous Mastocytoma	Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Noonan Syndrome 3	Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At...	OMIM:609942
Vici Syndrome	Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,...	OMIM:242840
Wolfram Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy	ORPHA:3463
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno...	ORPHA:97297
Gm1 Gangliosidosis Type 1	Macroglossia, Cardiomyopathy, Hepatosplenomegaly	ORPHA:79255
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita	OMIM:608013
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ...	OMIM:245600
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c...	OMIM:618143
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge...	OMIM:601992
Combined Oxidative Phosphorylation Deficiency 37	Hypertrophic cardiomyopathy	OMIM:618329
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Hypotension	ORPHA:79456
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy	OMIM:615398
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Dilated cardiomyopathy, Cardiac arrest, Hypotension	ORPHA:20
Isolated Complex I Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue	ORPHA:2609
Anemia, Congenital Dyserythropoietic, Type Iv	Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatosplenomegaly	OMIM:613673
Toriello-Carey Syndrome	Cardiomyopathy, Abnormal cardiac septum morphology, Tetralogy of Fallot, Pulmonic stenosis	ORPHA:3338
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp...	ORPHA:217085
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Pericardial effusion, Flexion contracture, Cardiomyopathy	OMIM:212065
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,...	ORPHA:580
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss...	ORPHA:581
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Tricuspid stenosis, Heart murmur, Palpitations, Hypotension	ORPHA:100079
Abetalipoproteinemia	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower limb muscle weakness	ORPHA:14
Rabson-Mendenhall Syndrome	Enlarged ovaries, Ventricular septal defect, Cardiomyopathy, Macroglossia, Atrial septal defect	ORPHA:769
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp...	ORPHA:217093
Adult Acute Respiratory Distress Syndrome	Shock, Vasculitis, Hypotension	ORPHA:70578
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis	ORPHA:79430
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hypotension	ORPHA:91354
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia	OMIM:230000
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Myositis, Myocarditis, Capillary leak, Hypotension	ORPHA:36234
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure	ORPHA:508542
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia	ORPHA:2131
Poliomyelitis	Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe...	ORPHA:2912
Aggressive Systemic Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Portal hypertension, Hepatosplenomegaly	ORPHA:98850
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ...	OMIM:617403
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Macroglossia, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, H...	ORPHA:255210
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype...	ORPHA:51
Leopard Syndrome 1	Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola...	OMIM:151100
Serotonin Syndrome	Hypertension, Tachycardia, Rhabdomyolysis, Hypotension	ORPHA:43116
Corticosteroid-Binding Globulin Deficiency	Hypertension, Hypotension	OMIM:611489
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	ORPHA:73224
Lujo Hemorrhagic Fever	Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension	ORPHA:319213
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension...	ORPHA:542323
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Peric...	ORPHA:99827
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension	OMIM:264350
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Late-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Hypotension	ORPHA:556037
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S...	OMIM:182250
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Hepatomegaly, Ragged-red muscle fibers, Flexion contracture, Rhabdomyoly...	ORPHA:17
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hypertrophic cardiomyopathy, Hypomimic face	ORPHA:309854
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Hypertrophic cardiomyopathy	OMIM:616539
Corticosterone Methyloxidase Type I Deficiency	Hypotension	OMIM:203400
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:607721
Castleman Disease	Restrictive cardiomyopathy	ORPHA:160
Early-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Hypotension	ORPHA:556030
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Hypertrophic cardiomyopathy, Enl...	OMIM:276700
Postinfectious Vasculitis	Cerebral vasculitis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke, Vasculiti...	ORPHA:48435
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension	OMIM:620125
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Ogden Syndrome	Atrial septal defect, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular se...	OMIM:300855
Post-Traumatic Pituitary Deficiency	Hypotension	ORPHA:95619
Cartilage-Hair Hypoplasia	Hepatomegaly, Heart block, Aplasia/Hypoplasia of the abdominal wall musculature, Cardiomyopathy, ...	ORPHA:175
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Congestive heart fa...	OMIM:256040
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	OMIM:618278
Lipodystrophy, Congenital Generalized, Type 1	Splenomegaly, Cardiomyopathy, Generalized muscular appearance from birth, Hepatomegaly	OMIM:608594
Oculoectodermal Syndrome	Atrial septal defect, Hypertrophic cardiomyopathy, Transient ischemic attack	OMIM:600268
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart...	ORPHA:506
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Ragged-red muscle fibers, Concentric hypertr...	OMIM:252010
Meningococcal Meningitis	Shock, Hypotension	ORPHA:33475
Cardiofaciocutaneous Syndrome	Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten...	ORPHA:1340
Relapsing Fever	Tachycardia, Epistaxis, Hypotension	ORPHA:91547
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hematemesis, Pericardial effusion, Splenomegaly, Vasculitis, Hematochezia, Hyperten...	OMIM:615846
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h...	ORPHA:51608
Mercury Poisoning	Hypertension, Tachycardia, Hypotension	ORPHA:330021
Leptospirosis	Hepatomegaly, Pericarditis, First degree atrioventricular block, Rhabdomyolysis, Retinal hemorrha...	ORPHA:509
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension	OMIM:177735
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,...	ORPHA:3472
Infant Botulism	Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Trichothiodystrophy	Cardiomyopathy, Multiple joint contractures, Ventricular septal defect	ORPHA:33364
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl...	ORPHA:373
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Flexion contracture, Subdural hemorrhage, Re...	ORPHA:90324
Beta-Ketothiolase Deficiency	Hypertension, Hypotension, Hepatomegaly	ORPHA:134
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, S...	ORPHA:116
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Atrial septal defect, Restrictive cardiomyopathy, Abnormal heart morphology	ORPHA:369837
Cardiofaciocutaneous Syndrome 1	Atrial septal defect, Splenomegaly, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:115150
Familial Hypoaldosteronism	Orthostatic hypotension, Hypovolemia, Hypotension	ORPHA:427
Zimmermann-Laband Syndrome 1	Splenomegaly, Cardiomyopathy, Hepatomegaly	OMIM:135500
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Hypotension, Limb hypertonia	OMIM:608643
Congenital Isolated Acth Deficiency	Hypotension	ORPHA:199296
Renal Tubular Dysgenesis	Hypotension	OMIM:267430
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Splenomegaly, Bradycardia, Hypotension	ORPHA:90051
Staphylococcal Necrotizing Pneumonia	Shock, Hypotension	ORPHA:36238
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Splenomegaly, Generalized muscular appearance from birth, Ventricular septal hypert...	OMIM:269700
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Hypotension	ORPHA:98849
Gitelman Syndrome	Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Palpitations, Hypotension	OMIM:263800
Hennekam-Beemer Syndrome	Arrhythmia, Telangiectasia of the skin, Camptodactyly of finger, Hypotension	ORPHA:2135
Pearson Syndrome	Hepatomegaly, Cardiac conduction abnormality, Splenomegaly, Abnormal heart morphology, Cardiomyop...	ORPHA:699
Pde4D Haploinsufficiency Syndrome	Hypotension	ORPHA:439822
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bradycardia, Hypotension, Arrhythm...	ORPHA:94093
Acute Radiation Syndrome	Hypotension, Telangiectasia	ORPHA:454831
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil...	OMIM:619991
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag...	ORPHA:363958
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation...	ORPHA:363700
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr...	ORPHA:2556
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hypertension, Mitral regurgitation, ...	OMIM:220111
Costello Syndrome	Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mitral valve prolapse, ...	OMIM:218040
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc...	ORPHA:99826
Camurati-Engelmann Disease	Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Splenomegaly, Hypertrophic cardiomyopathy	ORPHA:1328
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort...	ORPHA:904
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Rhabdomyolysis, Hypertrophic cardiomyopathy, Ragged-red muscle fibers	OMIM:124000
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension...	ORPHA:340
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diast...	OMIM:312870
Plague	Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Endocarditis, Hypotension, Arrhythmia	ORPHA:707
Alexander Disease	Hypotension, Hypertension, Facial palsy, Sudden cardiac death	ORPHA:58
Cholera	Hypovolemic shock, Tachycardia, Hypotension	ORPHA:173
Leprechaunism	Skeletal muscle atrophy, Enlarged ovaries, Hepatomegaly, Hypertrophic cardiomyopathy, Enlarged ki...	ORPHA:508
Acromegaly	Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	ORPHA:963
Somatomammotropinoma	Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	ORPHA:314769
Hellp Syndrome	Cerebral hemorrhage, Internal hemorrhage, Hypotension	ORPHA:244242
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Hypotension	ORPHA:428
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Rhabdomyolysis, ST segment depression, Hypotension, Abnormal T-wave, Abnor...	ORPHA:466650
Noonan Syndrome 1	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:163950
Acute Adrenal Insufficiency	Hypotension, Orthostatic hypotension, Hypovolemia, Myocardial infarction	ORPHA:95409
Pituitary Apoplexy	Hypertension, Hypotension	ORPHA:95613
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Hypotension	ORPHA:199299
Lysosomal Acid Lipase Deficiency	Pulmonary arterial hypertension, Hypovolemia, Hypotension, Hepatosplenomegaly	ORPHA:275761
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypertension, Hypotension	OMIM:174000
Fanconi Anemia	Abnormal cardiac septum morphology, Abnormal aortic valve morphology, Atrial septal defect, Hyper...	ORPHA:84
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypotension	ORPHA:93256
Non-Functioning Pituitary Adenoma	Hypotension	ORPHA:91349
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Rhabdomyosarcoma, Renovascular hypertension, Abnormal heart morpholog...	ORPHA:97685
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypotension	ORPHA:90791
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Hypertension, Atrial septal defect, Hypert...	OMIM:270400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r...	ORPHA:96334
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Prolactinoma	Hypotension	ORPHA:2965
Bartter Syndrome, Type 3	Hypotension	OMIM:607364
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Atrial septal defect, Cardiomyopathy	ORPHA:480880
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hypovolemia, Hypotension	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hypovolemia, Hypotension	ORPHA:289548
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hypotension	ORPHA:293978
Yunis-Varon Syndrome	Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralo...	OMIM:216340
Addison Disease	Orthostatic hypotension, Hypotension	ORPHA:85138
Acute Liver Failure	Intracranial hemorrhage, Shock, Gastrointestinal hemorrhage, Hypotension	ORPHA:90062
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Hypovolemia, Hypotension	ORPHA:90794
Non-Acquired Panhypopituitarism	Hypotension	ORPHA:90695
Pmm2-Cdg	Pericarditis, Multiple joint contractures, Angina pectoris, Pericardial effusion, Intracranial he...	ORPHA:79318
Pallister-Killian Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Flexion contracture, Macroglossia, Ca...	OMIM:601803
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension	ORPHA:95494

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Alpk3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Alpk3.

No publications found that use IMPC mice or data for Alpk3.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Alpk3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Alpk3^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Alpk3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Alpk3 MGI:2151224

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

Adult LacZ

X-ray

Embryo LacZ

Auditory Brain Stem Response

Human diseases caused by Alpk3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data