Gene Summary

Name:
zinc finger protein 280D
Synonyms:
Suhw4

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
decreased prepulse inhibition Zfp280dem1(IMPC)Hmgu HOM Early adult 1.95×10-10
dilated heart left ventricle Zfp280dem1(IMPC)Hmgu HOM Early adult 7.65×10-21
increased circulating calcium level Zfp280dem1(IMPC)Hmgu HOM Early adult 2.76×10-05
decreased heart rate Zfp280dem1(IMPC)Hmgu HOM Early adult 2.28×10-07
decreased mean corpuscular hemoglobin concentration Zfp280dem1(IMPC)Hmgu HOM Early adult 3.14×10-05
decreased startle reflex Zfp280dem1(IMPC)Hmgu HOM Early adult 1.15×10-17
increased circulating cholesterol level Zfp280dem1(IMPC)Hmgu HOM Early adult 9.59×10-05
abnormal startle reflex Zfp280dem1(IMPC)Hmgu HOM Early adult 2.04×10-13
prolonged QRS complex duration Zfp280dem1(IMPC)Hmgu HOM Early adult 1.60×10-06
decreased cardiac muscle contractility Zfp280dem1(IMPC)Hmgu HOM Early adult 2.66×10-32
prolonged RR interval Zfp280dem1(IMPC)Hmgu HOM Early adult 2.89×10-07
increased circulating aspartate transaminase level Zfp280dem1(IMPC)Hmgu HOM Early adult 1.57×10-05
decreased locomotor activity Zfp280dem1(IMPC)Hmgu HOM   Early adult 1.98×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

Human diseases caused by Zfp280d 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zfp280d by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Sudden cardiac death, Myocardial infarction, Hypertension, ... OMIM:610947
Atrial Standstill
Atrial standstill, Left ventricular noncompaction, Ventricular tachycardia, Arrhythmia, Congestiv... ORPHA:1344
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... ORPHA:45453
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Inability to walk, Right bundle br... ORPHA:206559
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy, Dystonia, Hyperalaninemia OMIM:614654
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Bradycardia, Perimembranous ventricular s... OMIM:618782
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Sudden cardiac dea... OMIM:113900
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Dystonia, Increased total bilirubin OMIM:616299
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Prolonged QT interval, Hyperphosphatemia... ORPHA:94090
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypercholesterolemia, Myocardial infarction, Hypertension, Hypertriglyc... OMIM:615703
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Decreased plasma free carnitine, Ventricular hypertrophy, Bradycardia, ... OMIM:619048
Distal Myopathy, Tateyama Type
Palpitations, Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Dilatation of the ventricular cavity, Atri... OMIM:615745
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Romano-Ward Syndrome
Sinus bradycardia, Hypokalemia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventri... ORPHA:101016
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Hypocalcemia, Prolonged QT interval, Ventricular septa... OMIM:601005
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Lethargy... OMIM:212138
Non-Functioning Paraganglioma
Sinus tachycardia, Hypercalcemia, Congestive heart failure, Hypertension associated with pheochro... ORPHA:94080
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Loeffler Endocarditis
T-wave inversion, Abnormal cardiomyocyte morphology, Right bundle branch block, Endocardial fibro... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Bradycardia, Dystonia, Tremor OMIM:617248
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Rhabdoid Tumor
Hypercalcemia, Anemia, Hypertension, Thrombocytopenia, Internal hemorrhage ORPHA:69077
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation, Ventricular tachycardia, Premature ventricular contraction, Left bu... OMIM:618920
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Myocardial infarction, Elevated circulating apolipoprotein ... OMIM:144250
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Dystonia 23
Arrhythmia, Axial dystonia, Head tremor, Limb dystonia, Gait disturbance, Torticollis, Writer's c... OMIM:614860
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia,... OMIM:171420
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Biventricular hypertrophy, Left anterior fascicular block, Hypertrophic... OMIM:613243
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Elevated circulating creatine kinase concentration, Right bundle branch block OMIM:613158
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Idiopathic Congenital Hypothyroidism
Bradycardia, Neonatal hyperbilirubinemia, Lethargy ORPHA:95717
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Ataxia, Steppage gait, Hypercholesterolemia OMIM:607250
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Loss of ability to walk, Elevated circulating creatine kinase concentration, S... OMIM:616812
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Aortic valve stenosis, Pulmonic stenosis, Lethargy OMIM:143880
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia, Hypocalcemia DECIPHER:16
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Hypotension, Hypoalbuminemi... OMIM:616000
Adamantinoma
Hypercalcemia ORPHA:55881
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia, Gait disturbance, Elevated circulating creatine kinase concentration, Hypertriglyceri... OMIM:616516
Tetanus
Opisthotonus, Elevated circulating creatine kinase concentration, Hypertension, Bradycardia, Tach... ORPHA:3299
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... OMIM:613838
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Intention tremor, Atrioventricular block, Bradycardia, Truncal ataxia OMIM:614407
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Anemia, Hyper... ORPHA:563
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Ventricular sept... OMIM:618775
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Elevated circulating creatine kinase concentration, Right bundle branch block, Ataxia, Unsteady gait OMIM:616479
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Ventricular fibrillation, Patent foramen ovale, Arrhythm... ORPHA:26793
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Ataxia, Steppage gait, Hypercholesterolemia ORPHA:94124
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Shock, Hypotension, Lethargy, Neutropenia, Abnormal heart morphology,... ORPHA:391673
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls OMIM:615883
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... OMIM:115197
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Abnormal left ventricular function, Hypocalcemia, Ventricular arrhythmia, ... ORPHA:36913
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Hypercalcemia, Congestive heart failure, Hypertension associated with pheochro... ORPHA:276621
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Hypercholesterolemia, Ataxia, Gait ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia... OMIM:208920
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Reduced ejection fraction, Arrhythmia, Congestive ... ORPHA:85451
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Illum Syndrome
Bradycardia, Calcinosis OMIM:208155
Mastocytosis
Chronic leukemia, Mastocytosis, Gastrointestinal hemorrhage, Hypercalcemia, Arrhythmia, Splenomeg... ORPHA:98292
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Patent foramen ovale, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventri... ORPHA:542306
Brugada Syndrome 2
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... OMIM:611777
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Neuroleptic Malignant Syndrome
Leukocytosis, Hyponatremia, Arrhythmia, Oculogyric crisis, Thrombocytosis, Hyperkalemia, Hypocalc... ORPHA:94093
Hepatic Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Congestive heart failure, Hypercholesterolemia, Cerebral hemorrhage, ST segment dep... ORPHA:90065
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Familial Thyroid Dyshormonogenesis
Bradycardia, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Lethargy ORPHA:95716
Aapoaiv Amyloidosis
Sinus bradycardia, Hyperlipidemia, Elevated circulating creatinine concentration, Atrial flutter,... ORPHA:439232
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Hypophosphatasia
Anemia, Hypercalcemia ORPHA:436
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Dystonia, Hypercholesterolemia, Head tremor, Ataxia, Elevated circula... ORPHA:64753
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Abnormal cardiac septum morphology ORPHA:3319
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Sple... OMIM:616828
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Increased circulating ferritin concentration, Arrhythmia, Congestive hear... OMIM:602390
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Pheochromocytoma
Hypercalcemia, Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia,... OMIM:171300
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hypertriglyceridemia OMIM:612526
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Hypophosphatasia, Infantile
Anemia, Elevated plasma pyrophosphate, Intracranial hemorrhage, Hypercalcemia OMIM:241500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Cardiomyopathy, Arrhythmia, Gait disturbance OMIM:609286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Late-Onset Isolated Acth Deficiency
Eosinophilia, Orthostatic hypotension, Hyponatremia, Normocytic anemia, Hypercalcemia, Decreased ... ORPHA:199299
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Hypercalcemia, Congestive heart failure, Hypertension associated with pheochro... ORPHA:29072
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Glutamine Deficiency, Congenital
Bradycardia, Hypoglutaminemia, Hyperammonemia OMIM:610015
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia, Ataxia, Arrhythmia OMIM:616949
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Episodic hemolytic anemia, Hypertension, Hypercalcemia ORPHA:251004
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Genetic Recurrent Myoglobinuria
Arrhythmia, Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase, Fatigable weakness of sw... ORPHA:99845
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormality of iron homeostasis, An... ORPHA:848
Ebstein Anomaly
Atrial standstill, Ventricular preexcitation, Atrial septal defect, Sudden cardiac death, Right b... OMIM:224700
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Acute Adrenal Insufficiency
Hypovolemia, Orthostatic hypotension, Hyponatremia, Normocytic anemia, Hypercalcemia, Increased c... ORPHA:95409
Morgagni-Stewart-Morel Syndrome
Action tremor, Hypercholesterolemia, Hypertension, Hyperuricemia ORPHA:77296
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Arrhythmia, Congestive heart failure, Atrial septal defect, Impe... ORPHA:1880
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Right ventricular dilatation, Unroofed coronary sinus, Systolic heart m... ORPHA:99104
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Cardiomy... OMIM:261740
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Hypertrophic cardiomyopat... ORPHA:276556
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Elevated circulating creatine kinase concentration, Prolonged QT interval, Atrial f... OMIM:613327
Colchicine Poisoning
Hypovolemia, Hypokalemia, Leukocytosis, Hyponatremia, Arrhythmia, Congestive heart failure, Abnor... ORPHA:31824
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Systolic heart murmur, Congestive heart failure, ... ORPHA:439
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Elevated circulating creatine kinase concentration, Loss of ability to walk, Right bundle branch ... ORPHA:254361
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Coronary Arterial Fistula
Right ventricular dilatation, Continuous heart murmur, Elevated jugular venous pressure, Patent f... ORPHA:2041
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Acitretin/Etretinate Embryopathy
Conotruncal defect, Third degree atrioventricular block, Atrioventricular canal defect, Bradycard... ORPHA:40366
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Prolonged QT interval, Hyperphosphatemia... ORPHA:94089
Oculoskeletodental Syndrome
Hypocalcemia, Lacunar stroke, Splenomegaly, Hypercalcemia OMIM:618440
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Abnormal left ventricular function, Arrhythmia, Left anterior fascicular block, Steppage gait, El... ORPHA:437572
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Lethargy, Elevated circulating creatine kinase c... OMIM:600649
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Aortic regurgitation, Hypercholesterolemia, Renovascular hypertension, Bi... ORPHA:401923
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Hypertrophic cardiomyopat... ORPHA:276575
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Familial Isolated Hypoparathyroidism
Hypocalcemia, Arrhythmia ORPHA:2238
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Reduced ejection fraction, Abnormal EKG, Inability to walk, Right ... ORPHA:268
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Sitosterolemia 1
Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circulating sitosterol concentratio... OMIM:210250
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Congestive heart failure, Hypocalcemia, Lethargy, Cardiomyopathy, Tip-toe gait, Mitra... ORPHA:746
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Cholesteryl Ester Storage Disease
Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia, Lethargy ORPHA:90673
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal EKG, Elevated circulating ... OMIM:310200
Eisenmenger Syndrome
Right-to-left shunt, Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle b... ORPHA:97214
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Pseudo-Torch Syndrome 2
Bradycardia, Lethargy, Secundum atrial septal defect, Cerebral hemorrhage, Thrombocytopenia OMIM:617397
Scorpion Envenomation
Increased circulating troponin I concentration, Hypokalemia, Premature ventricular contraction, A... ORPHA:466677
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Hypercalcemia, Gait ataxia, Tremor ORPHA:476126
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatosplenomegaly, Portal hypertension, Hypercholesterolemia, Splenomegaly, Anemia, ... OMIM:278000
Double Outlet Right Ventricle
Tetralogy of Fallot, Hypocalcemia, Double outlet right ventricle, Pulmonic stenosis, Hypoplastic ... ORPHA:3426
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Portal hypertension, Hypercalcemia, Thrombocytosis, Hypotension, Anemi... ORPHA:88673
Cirrhotic Cardiomyopathy
Right atrial enlargement, Abnormal A-type atrial natriuretic peptide level, Abnormal cardiac exer... ORPHA:57777
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Tremor, Lethar... ORPHA:247585
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Myocardial infarction, Coronary artery stenosis, Hypercholesterolemia OMIM:615812
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Opisthotonus OMIM:619272
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration, Hypotension, N... ORPHA:90051
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Splenomegaly, Anemia, Calcinosis, Hypophosphatemia OMIM:239200
Monosomy 13Q34
Hematochezia, Infantile hypercalcemia, Pulmonic stenosis, Common atrium, Epistaxis ORPHA:96168
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Autosomal Dominant Hypocalcemia
Arrhythmia, Congestive heart failure, Hypocalcemia, Hypotension, Fatigable weakness, Hyperphospha... ORPHA:428
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Hypertrophic cardiomyopathy, Lethargy, Palpitations, Syncope, Tachycardia ORPHA:276580
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Lethargy, Bradycardia, Neonatal hyperbilirubinemia, Abnormal circulating th... ORPHA:90674
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia, Loss of ability to walk, Leg dystonia, Tip-toe gait ORPHA:565624
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Leukopenia, Resting tremor, Leukocytosis, Shock, Myocarditis, Thrombo... ORPHA:319213
Encephalitis Lethargica
Bradycardia, Lethargy, Tremor ORPHA:83600
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Ataxia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholestero... ORPHA:247598
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hypotension, Elevated circulating creatine kinase concentration, Hyperphosphatemia,... OMIM:145600
Congenital Generalized Lipodystrophy
Increased C-peptide level, Congestive heart failure, Hypercholesterolemia, Hypertrophic cardiomyo... ORPHA:528
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Abnormal T-wave, Right ventricular dilatation, Increased HDL cholestero... ORPHA:70591
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Addison Disease
Orthostatic hypotension, Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating re... ORPHA:85138
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Waddling gait, Hypercalcemia OMIM:156400
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Gaisböck Syndrome
Hypovolemia, Increased hematocrit, Increased circulating renin level, Hypercholesterolemia, Eleva... ORPHA:90041
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Cardiomyopathy, Ventricular tachycardia, Sudden cardiac death OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Hypokalemia, Elevated circulating creatinine concentration, Lymphopen... ORPHA:99826
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Arrhythmia, Splenomegaly, Neutropenia, Abnormal heart morph... ORPHA:398124
Hyperinsulinism Due To Hnf1A Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Lethargy, Palpitations, S... ORPHA:324575
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Pulmonary embolism, Hypoalbuminem... ORPHA:567548
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:370
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Stiff-Person Syndrome
Opisthotonus, Anemia, Hypertension, Exaggerated startle response, Tachycardia OMIM:184850
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Mucosal telangiectasiae, Arrhythmia, Bundle branch block, Elevated c... ORPHA:93672
Cholera
Hypokalemia, Hypovolemic shock, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hyp... ORPHA:173
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Low pulse pressure, Hypoalbuminemia, Incre... ORPHA:86816
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia OMIM:618348
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Lethargy, Tremor ORPHA:276608
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Hypercalcemia ORPHA:97289
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, ... OMIM:300257
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Acquired Methemoglobinemia
Arrhythmia, Palpitations, Syncope, Tachycardia, Methemoglobinemia ORPHA:464453
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Macrocytic anemia, Mitral regurgitation, Atrial septal defect, Increased mea... OMIM:612561
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Hyperkalemia, Hypocalcemia, Hypotens... ORPHA:466650
Smith-Magenis Syndrome
Abnormal heart morphology, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Ataxia, Hypercholesterolemia ORPHA:263501
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Atrial septal defect, Abnormal heart morphology, Restrictive cardiomyopathy, Hyper... ORPHA:369837
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin, T... ORPHA:90037
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdura... ORPHA:99827
Fabry Disease
Abnormal myocardium morphology, Abnormal endocardium morphology, Hyperlipidemia, Mucosal telangie... ORPHA:324
Pulmonary Hypertension, Primary, 4
Atrial flutter, First degree atrioventricular block, Increased pulmonary vascular resistance, Rig... OMIM:615344
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increased serum pro... OMIM:601678
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypocalcemia, Sudden cardiac death, Hypocalcemi... ORPHA:73224
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia OMIM:175500
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Splenomegaly, Elevated circulating creatine kinase concentration, Anemia, C... ORPHA:264580
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect OMIM:126320
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Elevated circulating creatinine concentration, Increas... ORPHA:36234
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Sheehan Syndrome
Orthostatic hypotension, Hyponatremia, Bradycardia, Decreased circulating cortisol level, Palpita... ORPHA:91355
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Parathyroid Carcinoma
Shortened QT interval, Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Congestive heart failure, Atrial septal defect, Biventricula... ORPHA:860
Ethylene Glycol Poisoning
Congestive heart failure, Hyperkalemia, Hypocalcemia, Hypotension, Ataxia, Atrial fibrillation, H... ORPHA:31826
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Reduced haptoglobin level, Anisocytosis, Spherocytosis, He... ORPHA:71275
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231226
Proximal Spinal Muscular Atrophy
Atrial septal defect, Bradycardia, Inability to walk, Difficulty walking ORPHA:70
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia, Hypokalemia OMIM:613239
Glucagonoma
Gastrointestinal hemorrhage, Hypercalcemia, Acanthocytosis, Normochromic anemia, Increased circul... ORPHA:97280
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia, Hypokalemia OMIM:188580
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, Hyperproteinemia ORPHA:29073
Somatostatinoma
Gastrointestinal hemorrhage, Hypercalcemia, Hypochromic microcytic anemia, Increased circulating ... ORPHA:97283
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia OMIM:614653
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Decreased ci... OMIM:207750
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Portal hypertension, Increased serum bile acid concentration, Hyperch... OMIM:619662
Fibrous Dysplasia Of Bone
Antalgic gait, Hypercalcemia, Hypophosphatemia, Difficulty walking, Increased circulating cortiso... ORPHA:249
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... ORPHA:1055
Glossopharyngeal Neuralgia
Syncope, Bradycardia, Jaw claudication ORPHA:221098
Lmna-Related Cardiocutaneous Progeria Syndrome
Mitral regurgitation, Hypercholesterolemia, Congestive heart failure, Intracranial hemorrhage, Hy... ORPHA:363618
Relapsing Fever
Leukopenia, Leukocytosis, Elevated circulating creatinine concentration, Neutrophilia, Elevated c... ORPHA:91547
Yellow Fever
Leukocytosis, Elevated circulating creatinine concentration, Reduced ejection fraction, Shock, Ne... ORPHA:99829
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia, ... OMIM:618183
Laron Syndrome
Hypercholesterolemia ORPHA:633
Congenital Aortic Valve Stenosis
Abnormal T-wave, Aortic valve atresia, Reduced ejection fraction, Endocardial fibroelastosis, Dys... ORPHA:3093
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Anemia, Hypocalcemia ORPHA:53
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, High-output congestive heart failure, Splenomegaly, Increased H... ORPHA:231222
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... ORPHA:412
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Hypokalemia, Ventricular fibrillation, Hypocalcemia, ST s... ORPHA:358
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hepatosplenomegaly, Hypercholesterolemia ORPHA:79237
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Hypotension, Limb dystonia, Lethargy, Limb tremor, E... OMIM:608643
Snakebite Envenomation
Hyponatremia, Cardiogenic shock, Hypotension, Thrombocytopenia, Myocardial infarction, Cerebral i... ORPHA:449285
Lysinuric Protein Intolerance
Anemia, Thrombocytopenia, Hyperammonemia, Decreased HDL cholesterol concentration, Increased circ... ORPHA:470
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Hypertension associated with pheochromocytoma, Hypercalcemia, Palpitations ORPHA:653
Williams Syndrome
Hypertension, Ventricular septal defect, Mitral regurgitation, Cardiomegaly, Tremor, Overriding a... ORPHA:904
Mercury Poisoning
Hypokalemia, Dystonia, Hypotension, Hypertension, Tachycardia, Tremor ORPHA:330021
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Dysmetria, Inability to walk, Ataxia, Right bundle branch block, Mitral regurgitation, Tricuspid ... OMIM:619576
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Arrhythmia, Abnormal mitral... ORPHA:500
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
X-Linked Agammaglobulinemia
Neutropenia, Anemia, Hypocalcemia, Thrombocytopenia ORPHA:47
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Lysosomal Acid Lipase Deficiency
Hypovolemia, Hepatosplenomegaly, Hyponatremia, Vacuolated lymphocytes, Hypercholesterolemia, Hype... ORPHA:275761
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Primary Familial Polycythemia
Abnormal hemoglobin, Epistaxis, Polycythemia ORPHA:90042
Ppoma
Increased circulating cortisol level, Gastrointestinal hemorrhage, Hypercalcemia ORPHA:97278
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated circulating cre... ORPHA:97292
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Elevated circulating creatine kinase concentration, Tachycardia, Highly elevated creatine kinase,... ORPHA:368
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Hypokalemia, Hypocalcemia, Splenomegaly, Ataxia, Neutropenia, A... ORPHA:699
Sarcoidosis
Eosinophilia, Leukopenia, Portal hypertension, Hypercalcemia, Increased T cell count, Arrhythmia,... ORPHA:797
Vipoma
Normochromic anemia, Hypokalemia, Increased circulating cortisol level, Hypercalcemia ORPHA:97282
Zollinger-Ellison Syndrome
Hematochezia, Increased circulating cortisol level, Gastrointestinal hemorrhage, Hypercalcemia ORPHA:913
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Calcinosis, Hyperphosphatemia, Hypocalce... ORPHA:79444
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Hyperbilirubinemia, Lethargy OMIM:218700
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Abnormal circulating protein concentration, Elevated carcinoembryonic antigen level ORPHA:264675
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Tachycardia, Palpitations OMIM:602668
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Splenomegaly, Elevated circulating creatine kinase concentration, Anemia, H... ORPHA:79240
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Gait disturbance ORPHA:819
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Primary hypercortisolism, Lethargy, Hematemesis, Hypertension, Melena, Shortened Q... ORPHA:652
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Lethargy, Tachycardia, Abnormal circulating fatty-acid concentration, T... ORPHA:263455
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Grfoma
Increased circulating cortisol level, Gastrointestinal hemorrhage, Hypercalcemia ORPHA:97261
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Hypocalcemia, Splenomegaly, Anemia, Thrombocytopenia OMIM:259700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Elevated circulating creatine ki... OMIM:253800
Marbach-Rustad Progeroid Syndrome
Ventricular septal hypertrophy, Pulmonary insufficiency, Right bundle branch block, Intention tremor OMIM:619322
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Immunodeficiency 47
Leukopenia, Normocytic anemia, Accessory spleen, Hypercholesterolemia, Splenomegaly, Tricuspid re... OMIM:300972
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Hypocalcemia, Splenomegaly, Anemia, Hypochromic microcytic anemia, Hy... OMIM:259720
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypercalcemia OMIM:131100
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Syncope, Tachycardia, Premature ventricular contraction OMIM:192445
Megalocornea-Mental Retardation Syndrome
Ataxia, Hypercholesterolemia OMIM:249310
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Arrhythmia, Reduced ejection fraction, Hypotension... ORPHA:542323
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Ataxia OMIM:618476
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:93160
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Megalocornea-Intellectual Disability Syndrome
Ataxia, Hypercholesterolemia ORPHA:2479
Low Phospholipid-Associated Cholelithiasis
Hypertension, Hypercholesterolemia ORPHA:69663
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Abnormal left ventricular function, Hypercholesterolemia, Sudden cardiac death, M... ORPHA:391665
Malignant Hyperthermia Of Anesthesia
Ventricular tachycardia, Premature ventricular contraction, High-output congestive heart failure,... ORPHA:423
Cardiac Diverticulum
Tricuspid atresia, Premature ventricular contraction, Dextrocardia, Mitral stenosis, Ventricular ... ORPHA:1686
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Hypocalcemia, Anemia, Intracranial hemorrhage, Hyperbilirubinemia, Ventricu... ORPHA:163979
Congenital Fibrinogen Deficiency
Opisthotonus, Splenic rupture, Right ventricular hypertrophy, Tachycardia, Left ventricular hyper... ORPHA:335
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Calcinosis, Hyperphosphatemia, Hypocalce... ORPHA:79443
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia OMIM:250800
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Ataxia, Exaggerated startle response, Cardiomegaly OMIM:268800
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Mitral valve prolapse ORPHA:1563
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:2457
Bohring-Opitz Syndrome
Bradycardia, Cardiomegaly, Inability to walk, Abnormal cardiac septum morphology ORPHA:97297
Stiff Person Spectrum Disorder
Falls, Difficulty walking, Exaggerated startle response ORPHA:3198
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Hypocalcemia, Ataxia, Iron deficiency anemia, Macrocytic anemia, Steatorrhea OMIM:212750
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Prolonged PR interval, Prolonged Q... ORPHA:273
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Hypocalcemia, Splenomegaly, Pulmonary arterial hypertension,... ORPHA:667
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Patent foramen ovale OMIM:607143
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly, Ventricular septal defect OMIM:235255
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Abnormal blood i... ORPHA:37042
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypercholesterolemia, Chronic neutropenia, Hyperuricemia, Xanthelasma, Anemia, Hy... ORPHA:79259
Cartilage-Hair Hypoplasia
Hypocalcemia, Neutropenia, Anemia, Cardiomyopathy, Heart block, Abnormal cardiac septum morphology ORPHA:175
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypophosphatemia, Difficulty walking, Hypocalcemic seizures ORPHA:289157
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Portal hypertension, Coronary artery stenosis, Hypercalcemi... OMIM:194050
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal blood ion concentration, Dilated cardiomyopathy, Bradycardia, Anemia ORPHA:79404
Juvenile Nephropathic Cystinosis
Hypovolemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcem... ORPHA:411634
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:352540
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertension, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Tachycardia OMIM:615821
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia ORPHA:621
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Hypercalcemia ORPHA:276152
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Hydroxykynureninuria
Abnormal circulating tryptophan concentration, Tachycardia, Hypotension ORPHA:79155
Tay-Sachs Disease
Dysmetria, Dystonia, Increased serum beta-hexosaminidase, Inability to walk, Gait disturbance, La... ORPHA:845
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Autoimmune hemolytic anemia, Splenomegaly, Tachycardia, Chronic lymphat... ORPHA:90033
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hyponatremia, Hyperkalemia, Hypocalcemia, Myocarditis, Hypertensive crisis, Hemolyt... ORPHA:544482
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Ventricular septal defect ORPHA:1655
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Anemi... ORPHA:2785
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Elevated circulatin... ORPHA:90068
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cardiac arrest, Elevated circulating creatinine concentration, Left-to-right shunt, Dextrocardia,... OMIM:619534
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Cutis Laxa, Autosomal Recessive, Type Iid
Atrial septal defect, Hypertrophic cardiomyopathy, Right bundle branch block, Congestive heart fa... OMIM:617403
Gracile Bone Dysplasia
Hypoplastic spleen, Hypocalcemia, Asplenia OMIM:602361
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Sinus tachycardia, Right bundle branch block, Pulmonary arterial hypert... OMIM:614008
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Kenny-Caffey Syndrome, Type 2
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Leopard Syndrome 1
Subvalvular aortic stenosis, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bu... OMIM:151100
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia, Lethargy ORPHA:226307
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Broad-based gait, Exaggerated startle response ORPHA:438216
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial flutter, Patent foramen ovale, Reduced ejection fraction, Congestive ... ORPHA:980
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination