Gene Summary

Name:
glucan (1,4-alpha-), branching enzyme 1
Synonyms:
D16Ertd536e,  2810426P10Rik,  2310045H19Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
increased circulating creatinine level Gbe1tm1a(KOMP)Wtsi HET Early adult 1.47×10-07

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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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 50% (1 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)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Ambiguous
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 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)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin 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 Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood vessel 0.0%
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

8 Images

Legacy Phenotype Associated Images

View all 19 images

Human diseases caused by Gbe1 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.

The table below shows human diseases associated to Gbe1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Gbe1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus, Abnormality of the pancreas OMIM:167755
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Azotemia, Familial
Azotemia OMIM:109160
Neonatal Hemochromatosis
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin c... ORPHA:446
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hypoglycemia, Hep... OMIM:231100
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Splenomegaly, Cirrhosis, Hyperammonemia, ... OMIM:271500
Glycogen Storage Disease Iii
Hepatomegaly, Myopathy, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating crea... OMIM:232400
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Frequent falls, Splenomegaly, Tremor, Ataxia, Spasticity, Hepatic... OMIM:616719
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... ORPHA:369
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrophy, H... OMIM:619048
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... ORPHA:293964
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Generalized limb muscle atrophy, Hepatic fibrosis, Frequent falls, Intention tremor, Progressive ... ORPHA:466794
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Prolonged QTc interval, Bradycardia, ... OMIM:618782
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... OMIM:616201
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, Hypertriglyc... ORPHA:280356
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepati... OMIM:602579
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy OMIM:609016
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Hypoglycemia, Pneumonia, Cardiomegaly, Bradycar... OMIM:601005
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... ORPHA:79230
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Biventricular hypertrophy, Ascites, Macroglossia, Cardiomegaly, Cardiomyopathy, Bradyca... OMIM:261740
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture, Hydrops fe... OMIM:618815
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Hypokalemic Periodic Paralysis
Paralysis, Abnormal muscle fiber morphology, Episodic hypokalemia, Increased intramyocellular lip... ORPHA:681
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega... OMIM:613313
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... OMIM:253300
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... ORPHA:330001
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Hypoglycemia, Ventricular tachycardia, Ventricul... OMIM:212138
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Proximal amyotrophy, Atrial fibrillation, Bradycardia, Muscular dystrophy, Arrhythmia OMIM:614302
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoalbuminemia, Hypoglycemia, Hepatocellular necrosis, Elevated hepatic transamina... OMIM:251880
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Hepatic fibrosis, Cirrhosis, Cholestasis, Generalized hypotonia, Hypotonia OMIM:609313
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Oc... OMIM:615630
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Distal amyotrophy, Vocal cord paresis OMIM:158580
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia OMIM:306000
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypoglycemia ORPHA:366
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... OMIM:616278
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Skeletal muscle atrophy, Portal fibrosis, Hepatic fibrosis, E... ORPHA:370
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Pelvic girdle muscle weakness, Fasting hypoglycemia, Skeletal muscle atrophy, Hepat... ORPHA:79240
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... OMIM:600858
Cranioacrofacial Syndrome
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis OMIM:122850
Coach Syndrome 2
Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulating creatinine c... OMIM:619111
Glycogen Storage Disease Vi
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterole... OMIM:232700
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Decreased liver function, Hypoalbu... ORPHA:79319
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Ataxia, Type II diabetes mellitus ORPHA:2377
Glut1 Deficiency Syndrome 1
Paralysis, Paroxysmal dystonia, Babinski sign, Choreoathetosis, Myoclonus, Hemiparesis, Ataxia, S... OMIM:606777
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:125520
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine kinase concentration, Hypera... OMIM:201475
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... ORPHA:71277
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... OMIM:619662
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Elevated hepatic transaminase, Decreased serum zinc, Hepatic steatosis, Hepatos... ORPHA:541423
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Elevated hep... ORPHA:264580
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis, Distal lower limb muscle weakness OMIM:608634
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Cardiomyopathy, Cirrhosis, Hepatic... OMIM:606069
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Pleoconial Myopathy With Salt Craving
Paralysis, Proximal amyotrophy, Myopathy, Neonatal hypotonia OMIM:262900
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Abnormal heart morphology, Atrioventricular b... OMIM:614954
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... OMIM:603471
Indomethacin Embryofetopathy
Ventricular septal defect, Cardiomyopathy, Oligohydramnios, Atrial septal defect, Hydrops fetalis ORPHA:1909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart, Tetralogy of Fa... OMIM:615779
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Myopathy, Hepatomegaly, Hypoglyc... OMIM:212140
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis, Distal lower limb muscle weakness OMIM:158590
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Elevated circulating alanine aminotransferase concentration, Hepatic b... OMIM:613759
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Vocal cord paralysis, Facial palsy, Distal amyotrophy, Lower limb muscle we... OMIM:607641
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Increased hepatic echogenicity, Hepatic fi... OMIM:278000
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Butyrylcholinesterase Deficiency
Paralysis, Abnormality of the liver ORPHA:132
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Syncope, Pericardial effusion, Ascites, Vent... OMIM:115197
Necrotizing Enterocolitis
Shock, Ascites, Peritonitis, Hyperglycemia, Abnormal heart morphology, Edema, Abnormal glucose ho... ORPHA:391673
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia, Prolonged neonatal jaundice, Facial edema ORPHA:95717
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Infant Acute Respiratory Distress Syndrome
Pneumonia, Tachycardia, Bradycardia, Respiratory tract infection, Pulmonary edema, Cardiac arrest... ORPHA:70587
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, EMG: myopathic abnormalities, Cardiomyopathy, Bra... OMIM:609286
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Decreased liver function, Oligohydramnios, Arrhythmia OMIM:617021
Lethal Congenital Contracture Syndrome 7
Paralysis, Skeletal muscle atrophy, Facial diplegia, Arthrogryposis multiplex congenita, Knee fle... OMIM:616286
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Palpitations, Ventricular hypertrophy, Ventricular tachycardia, Shoulder g... ORPHA:263297
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome OMIM:614947
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Pedal edema OMIM:126320
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Donohue Syndrome
Fasting hypoglycemia, Skeletal muscle atrophy, Hepatic fibrosis, Hyperglycemia, Pancreatic islet-... OMIM:246200
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferas... OMIM:614876
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Cirrhosis, Cholestasis, Hepatic failure, Elevated... OMIM:617156
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Sick sinus syndrome, Prolonged PR interval, Patent forame... ORPHA:542306
Aicardi-Goutieres Syndrome 9
Dystonia, Hepatomegaly, Hepatic fibrosis, Muscular hypotonia of the trunk, Spastic tetraplegia, S... OMIM:619487
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Lipoyltransferase 1 Deficiency
Decreased liver function, Pulmonary arterial hypertension, Bradycardia, Elevated hepatic transami... OMIM:616299
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Hemochromatosis Type 4
Congenital hepatic fibrosis, Hepatic steatosis, Increased circulating ferritin concentration, Cir... ORPHA:139491
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Hyperammonemia, Spasticity, Abnormal circulating leucine concentration, Hypotonia ORPHA:6
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... ORPHA:99095
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Retinitis Pigmentosa 89
Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatic fibrosis OMIM:618955
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Knee flexion ... ORPHA:79322
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... ORPHA:75566
Coach Syndrome 1
Dystonia, Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly, Cirrhosis,... OMIM:216360
Coronary Arterial Fistula
Bicuspid aortic valve, Syncope, Abnormal EKG, Abnormal left ventricular function, Aortic valve st... ORPHA:2041
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... ORPHA:3092
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Abnormal QRS complex, Abnormality of blood circulation, ... ORPHA:860
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Transposition of the... ORPHA:1209
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:249670
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Porphyria Cutanea Tarda
Increased serum iron, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepa... ORPHA:101330
Porphyria, Acute Hepatic
Paralysis, Hypotonia, Respiratory paralysis, Generalized hypotonia OMIM:612740
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ectopia of the spleen, Ventricular septal defect, Atrioventricular canal defect OMIM:613751
Citrullinemia Type Ii
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... ORPHA:247585
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Cholelithiasis, Bra... OMIM:618775
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Macroglossia, Ataxia, Cholestasis OMIM:266920
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Contractures of the joints of the lower limbs, Skeletal muscle atrophy OMIM:613710
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Distal amyotrophy, Gait... OMIM:606183
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Abnormal cardiac septum morphology, Bundle branch block ORPHA:1479
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Senior-Loken Syndrome
Congenital hepatic fibrosis, Ataxia ORPHA:3156
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Dysmetria, Ataxia, Hepatic steatosis, Diabetes mellitus, Flexion ... OMIM:616263
Pediatric Hepatocellular Carcinoma
Elevated alpha-fetoprotein, Hepatomegaly, Hepatic necrosis, Hepatic fibrosis ORPHA:33402
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... ORPHA:217607
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Cardiomyopathy ORPHA:35
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemi... ORPHA:276580
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Diabetes mellitus, Insulin resistance, Hepatic steatosis OMIM:615980
Aapoaiv Amyloidosis
Hypertrophic cardiomyopathy, Hypertension, Cardiac amyloidosis, Abnormal cardiac ventricular func... ORPHA:439232
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal defect, Cardiac arrest, C... ORPHA:49827
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Endocardial Fibroelastosis
Endocardial fibroelastosis, Hypoglycemia, Restrictive cardiomyopathy ORPHA:2022
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Flexion contracture OMIM:614498
Joubert Syndrome 9
Oculomotor apraxia, Hepatic fibrosis OMIM:612285
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia, Flexion contracture, Camptodactyly, Recurrent respiratory infections OMIM:610015
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Decreased liver function, Elevated hepat... OMIM:246900
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect OMIM:615297
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemi... ORPHA:276575
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Hepatic failure, Hepatic steatosis OMIM:617872
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal d... OMIM:614262
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... OMIM:617205
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Edema, Cardiomyocyte hypertrophy, Congestive hea... OMIM:605676
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Edema, Arthrogryposis... OMIM:607598
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... OMIM:600803
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Hepatoportal Sclerosis
Hepatocellular carcinoma, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver, Splenome... ORPHA:64743
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Sinus bradycardia, Skeletal muscle atrophy, Limb muscle weakness, Palpitations, Atrioven... OMIM:616812
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Glucose intolerance, Splenomegaly ORPHA:75563
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Hypoketotic hypoglycemia, Palpitations, Hyper... ORPHA:276556
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Triceps weakness, Weakness of facial musculature, Recurrent aspiration p... ORPHA:70
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Glucose intolerance, Impaired glucose tolerance, Bradycardia, Joint contr... OMIM:614407
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Pulmonary artery hypoplasi... OMIM:613426
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Hepatomegaly, Ascites, Bradycardia, Decreased liver function, Elevated hepat... OMIM:617397
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Prolonged QT interval, Skeletal muscle hypertrophy, Atrial fibrillation, Insulin re... OMIM:613327
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... ORPHA:567983
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Hepatomegaly, Left atrial enlargement, Syncope, Abnormal left ventri... ORPHA:75249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... OMIM:618920
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance OMIM:144600
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Li... ORPHA:53035
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Di... ORPHA:1686
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation, Oculomotor apraxia, Ataxia, Generalized hypotonia, Hyp... OMIM:610688
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Generalized amyotrophy, Splenomegaly,... ORPHA:171
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Elevated hepatic transaminase, Increased hepati... OMIM:613027
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Ascites, Edema, Arthrogryposis multiplex congenita, Cardiomyopathy, Poly... OMIM:232500
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Cirrhotic Cardiomyopathy
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Pulmonary edema, Jaundice, Gl... ORPHA:57777
Acute Peripheral Arterial Occlusion
Paralysis, Limb muscle weakness ORPHA:90064
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Horner Syndrome, Congenital
Paralysis OMIM:143000
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Familial Thyroid Dyshormonogenesis
Macroglossia, Bradycardia, Prolonged neonatal jaundice, Facial edema ORPHA:95716
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hepatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Cirrho... ORPHA:231226
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Ventricular septal defect, Hypoplastic left atrium, Pulmonary hy... OMIM:615524
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Lower limb mus... OMIM:606721
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect OMIM:614432
Nephronophthisis 16
Hepatic fibrosis, Cholestasis OMIM:615382
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly of finger ORPHA:1388
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Hepatomegaly, Syncope, Midsystolic murmur, Atrial septal d... ORPHA:1677
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... OMIM:618641
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance ORPHA:181393
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Hypoglycemia, Cardiomyopathy ORPHA:67048
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Edema, Cirrhosis, Hepatosplenomegaly, Atrial septal de... ORPHA:101028
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Elevated hepatic transaminase, Hypocholesterolem... OMIM:212065
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Poor coordination, Insulin resistance, Left ventricular hypertrophy, Ataxia, Di... OMIM:209900
Abetalipoproteinemia
Babinski sign, Hepatomegaly, Decreased HDL cholesterol concentration, Myopathy, Hepatic fibrosis,... ORPHA:14
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect, Polyhydramnios ORPHA:3469
Illum Syndrome
Calcinosis, Bradycardia, Arthrogryposis multiplex congenita OMIM:208155
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Beta-Thalassemia Major
Hepatomegaly, Abnormality of iron homeostasis, Hepatic fibrosis, Hepatocellular carcinoma, Spleno... ORPHA:231214
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Hepatic failure... ORPHA:156
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... ORPHA:1329
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Prolonged QT interval, Pericardi... ORPHA:26793
Transaldolase Deficiency
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Decreased liver ... OMIM:606003
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Hepatic cysts, Stillbirth, Polyhydramnios, Atrial septal defect OMIM:263630
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Hyperammonemia, Cirrhosis, Hepatic steatosis, Elevated circulatin... OMIM:615486
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral regurgitation, Polyhydramnios, Pul... OMIM:615355
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Bidirectional shunt, Right bundle branch block,... ORPHA:439
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Hemochromatosis, Type 1
Hepatomegaly, Hepatocellular carcinoma, Glucose intolerance, Cardiomegaly, Cardiomyopathy, Spleno... OMIM:235200
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Immunodeficiency 47
Hepatomegaly, Prolonged neonatal jaundice, Hepatic fibrosis, Elevated hepatic transaminase, Splen... OMIM:300972
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Diabetes... OMIM:249270
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Trimethylaminuria
Hypertension, Recurrent pneumonia, Tachycardia, Splenomegaly OMIM:602079
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Abnormal lung morpholo... ORPHA:185
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Abnormal c... ORPHA:186
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Palpita... ORPHA:324575
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Variegate Porphyria
Paralysis OMIM:176200
8P23.1 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis ORPHA:251076
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis, Hypokalemia OMIM:613345
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Intermittent claudication, Aortic va... ORPHA:2299
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Wolfram-Like Syndrome
Glucose intolerance, Diabetes mellitus ORPHA:411590
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis OMIM:607361
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis OMIM:615415
Lambert Syndrome
Jaundice, Ventricular septal defect, Cholestasis, Intrahepatic biliary atresia ORPHA:1296
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Atrial septal defect, Oligohydramnios, Atrial flutter, Overriding aort... OMIM:601927
Serkal Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonic stenosis, Oligohydramnios, P... ORPHA:139466
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Maturity-onset diabetes of the young, Cerebral palsy, Abnormal circulating neopterin concentratio... ORPHA:1578
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Farber Disease
Skeletal muscle atrophy, Hepatic fibrosis, Myoclonus, Paraparesis, Intrahepatic cholestasis with ... ORPHA:333
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia, Prolonged neonatal jaundice ORPHA:226313
Noonan Syndrome 12
Supravalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot, Polyhydramnios OMIM:618624
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation ORPHA:83473
Senior-Loken Syndrome 9
Hepatic fibrosis, Cholestasis OMIM:616629
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypog... ORPHA:552
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Hypoglycemia, Pancreatitis, Hepatic steatosis, Elevated circulating ... OMIM:619386
Bile Acid Malabsorption, Primary, 2
Decreased circulating chenodeoxycholic acid concentration, Elevated circulating aspartate aminotr... OMIM:619481
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Giant cell hepatitis, Right ventricular hypertrophy, Arthrogryposis mu... OMIM:208085
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hepatic failure, Splenomegaly ORPHA:664
Gm2-Gangliosidosis, Ab Variant
Paralysis, Dystonia, Chorea, Exaggerated startle response, Spastic tetraparesis, Hypertonia, Gene... OMIM:272750
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Edema, Abnormal tricuspid valve morphology, Gastrointestinal hemorrhage, A... ORPHA:90308
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Ventricular septal defect, Tachycardia, Atrial septal defect, Contractures of the i... OMIM:613870
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis, Hypoglycemia OMIM:618120
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, EMG: myopathic abnormalities, ... OMIM:300257
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fulminant hepatic failure, Hypoketotic hypog... OMIM:231530
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... OMIM:619484
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Lujo Hemorrhagic Fever
Myocarditis, Shock, Subconjunctival hemorrhage, Fulminant hepatitis, Bradycardia, Facial edema, C... ORPHA:319213
Adams-Oliver Syndrome 6
Portal hypertension, Hepatic fibrosis OMIM:616589
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Infantile Liver Failure Syndrome 2
Hypoglycemia, Cardiomyopathy, Acute hepatic failure, Elevated hepatic transaminase, Jaundice OMIM:616483
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Tetralogy of Fallot w... OMIM:108800
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hepatic fibrosis, Hyperoxaluria, Cirrhosis, Generalized hypotonia, Neonatal hypotonia OMIM:601539
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Generalized amyotrophy OMIM:610006
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Atrial septal defect, Abnormality of the p... ORPHA:290
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... ORPHA:75565
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios ORPHA:3405
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Decreased liver function, Atrial septal defect, Hypoglycemia OMIM:615160
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Ventricular tachycardia, Cardiome... OMIM:600649
Tyrosinemia, Type I
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hypertyrosinemia, Splenomegaly, Cirrhosis, ... OMIM:276700
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Elevated hepatic transam... ORPHA:1454
Absence Of The Pulmonary Artery
Truncus arteriosus, Pulmonary edema, Abnormal EKG, Recurrent respiratory infections, Reduced ejec... ORPHA:980
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, He... OMIM:261680
Spinocerebellar Ataxia Type 3
Clumsiness, Dystonia, Skeletal muscle atrophy, Vocal cord paralysis, Abnormality of extrapyramida... ORPHA:98757
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:613458
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism OMIM:105500
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... OMIM:617300
Argininosuccinic Aciduria
Hepatomegaly, Hepatic fibrosis, Hyperglutaminemia, Hypoargininemia, Hyperammonemia, Ataxia, Eleva... OMIM:207900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Limb muscle weakness, Glucose intolerance, Impaired glucose tolerance, Facial palsy, Abnormality ... OMIM:610131
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Macr... OMIM:256810
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Hypoglycemia, Increased hepatic ... OMIM:614921
Hadziselimovic Syndrome
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Hypokalemia, Increased serum... OMIM:619377
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Congenital hepatic fibrosis, Increase... ORPHA:84081
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Mitral regurgitation, Neonatal death, Left ventricular syst... OMIM:619167
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Cardiomegal... ORPHA:42
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Ventricular septal defect, Abnormality of the pulmonary artery, ... ORPHA:1166
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Paralysis, Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Bile du... OMIM:203700
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Mildly reduced ejection fraction, Aortic valve ... ORPHA:99094
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Splenomegaly, Acute pancreatitis, Diffuse alveolar hemo... ORPHA:99827
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect OMIM:616901
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Edema, Bradycardia, Prolonged neonatal jaundice ORPHA:90673
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus, Neonatal death OMIM:228940
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Increased pulmon... ORPHA:97214
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Ventricular septal defect, Hypoplastic left heart, Secundum at... OMIM:618901
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Sepsis In Premature Infants
Hepatomegaly, Edema, Tachycardia, Bradycardia, Splenomegaly, Decreased liver function, Hypotensio... ORPHA:90051
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia OMIM:619272
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Giant cell hepatitis, Right ventricular hypertrophy, Arthrogryposis mu... OMIM:613404
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Myopathy, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Hypok... ORPHA:682
Thyrotoxic Periodic Paralysis
Paralysis, Hyperkalemia, Abnormal muscle fiber morphology, Episodic hypokalemia, Increased intram... ORPHA:79102
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Meckel Syndrome, Type 6
Bile duct proliferation, Cystic liver disease, Hepatic fibrosis OMIM:612284
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Tetanus
Hypertension, Bradycardia, Tachycardia ORPHA:3299
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Ventricular septal defect, Atrial septal defect, Tetralogy o... ORPHA:261243
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Neuroleptic Malignant Syndrome
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Arrhythmia, Pulmonary embolism, Elev... ORPHA:94093
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Abnormal left ventricle morpholog... ORPHA:1055
Joubert Syndrome 18
Ventricular septal defect, Camptodactyly OMIM:614815
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Atrial fibrillation, Ventricular tachycard... ORPHA:137675
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Hip contracture, Noncompaction cardiomyopathy, Splenomeg... OMIM:616651
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Holt-Oram Syndrome
Ventricular septal defect, Atrioventricular canal defect, Atrioventricular block, Atrial septal d... ORPHA:392
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance OMIM:309620
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Cerebral ischemia, Ebstein anomaly of the t... ORPHA:1880
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Microvesicular hepatic steatosis, Hypoglycem... OMIM:611126
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Periportal fibrosis, Flexion contracture OMIM:263210
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Limb hypertonia, Bradycardia, Neonatal hypoglycemia ORPHA:565624
Weill-Marchesani Syndrome
Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Lymphedema-Distichiasis Syndrome
Lymphedema, Ventricular septal defect, Tetralogy of Fallot, Arrhythmia, Predominantly lower limb ... OMIM:153400
Primary Angiitis Of The Central Nervous System
Paralysis, Hemiparesis, Paraparesis, Ataxia, Tetraparesis, Parkinsonism ORPHA:140989
Acth Deficiency, Isolated
Fasting hypoglycemia, Cholestasis, Jaundice OMIM:201400
Trichohepatoenteric Syndrome 1
Increased serum iron, Hepatomegaly, Abnormality of iron homeostasis, Hepatic fibrosis, Abnormalit... OMIM:222470
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Hypertonia ORPHA:2031
Joubert Syndrome 1
Hepatic fibrosis, Macroglossia, Oculomotor apraxia, Ataxia, Generalized hypotonia, Hypotonia, Hem... OMIM:213300
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Filippi Syndrome
Ventricular septal defect OMIM:272440
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia, Flexion contracture OMIM:614653
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Pulmonary arterial hypertension, Polyhydramnios, Pulmoni... OMIM:608149
Adams-Oliver Syndrome
Congenital hepatic fibrosis, Hemiparesis, Cirrhosis, Hypertonia, Portal hypertension ORPHA:974
Mcdonough Syndrome
Ventricular septal defect, Pulmonic stenosis, Diastasis recti, Atrial septal defect, Aortic valve... OMIM:248950
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Bohring-Opitz Syndrome
Annular pancreas, Facial hypotonia, Cardiomegaly, Cholelithiasis, Bradycardia, Abnormal cardiac s... ORPHA:97297
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:615279
Criss-Cross Heart