Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
angiotensin I converting enzyme (peptidyl-dipeptidase A) 2
Synonyms:
2010305L05Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Ace2 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 Ace2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Lactose Intolerance, Adult Type
Flatulence, Abdominal pain, Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lact... OMIM:223100
Immunodeficiency With Defective T-Cell Response To Interleukin 1
Recurrent otitis media, Recurrent pneumonia OMIM:243110
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Reduced ejection fraction, Dilated cardiomyopathy OMIM:618189
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Hypertension, Essential
Elevated mean arterial pressure, Elevated diastolic blood pressure, Elevated systolic blood pressure OMIM:145500
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Pulmonary Hypertension, Primary, 2
Pulmonary arterial hypertension, Increased pulmonary vascular resistance OMIM:615342
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... OMIM:615343
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma, Hypertension OMIM:618464
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Abnormal left ventricular function, Dilated cardi... OMIM:605362
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Arrhythmia, Elevated pu... OMIM:615344
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Immunodeficiency 51
Folliculitis, Recurrent bronchitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Gastric adenocarcinoma, Fundic gland polyposis, Abdominal pain, Melena OMIM:619182
Angioedema, Hereditary, 3
Intestinal edema, Pharyngeal edema, Facial edema, Vomiting, Angioedema, Episodic abdominal pain OMIM:610618
Diarrhea 9
Villous atrophy, Diarrhea, Failure to thrive OMIM:618168
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Abdominal pain, Weight loss, Diarrhea OMIM:191390
Dermoids Of Cornea
Corneal opacity OMIM:304730
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea
Megalocornea OMIM:249300
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Raynaud Disease
Raynaud phenomenon OMIM:179600
Platelet Prostacyclin Receptor Defect
Intermittent claudication OMIM:262875
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Crohn's disease, Perianal abscess, Enterocolitis OMIM:613148
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Immunodeficiency 19
Recurrent otitis media, Diarrhea, Failure to thrive OMIM:615617
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Pneumocystosis
Dyspnea, Chronic oral candidiasis, Interstitial pneumonitis, Exertional dyspnea, Parenchymal cons... ORPHA:723
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Limbal Stem Cell Deficiency
Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e... ORPHA:171673
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Weight loss, Diarrhea, R... OMIM:266600
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Atrial Septal Defect 9
Pulmonary arterial hypertension OMIM:614475
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Edema, Pulmonary edema... OMIM:267450
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Diarrhea 6
Diarrhea, Abdominal pain OMIM:614616
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Neutropenia, Failure to thrive, Recurrent bacterial infections, Recurrent... OMIM:616022
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Failure to thrive, Intractable diarrhea, Arthritis OMIM:613217
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal enzyme/coenzyme activity OMIM:125460
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... OMIM:265450
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatomegaly, ... OMIM:615895
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Ulcerative colitis, Recurrent infections, Decreased circ... OMIM:614878
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Pulmonary fibrosi... ORPHA:133
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Recurrent infections, Sinusitis, Recurrent respiratory infections OMIM:226990
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Angioedema, Hereditary, 1
Intestinal edema, Abdominal pain, Pharyngeal edema, Diarrhea, Vomiting, Angioedema, Laryngeal edema OMIM:106100
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Failure to thrive, Recurrent bacterial... OMIM:613501
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Atopic Keratoconjunctivitis
Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization, Ble... ORPHA:163934
Young Syndrome
Recurrent bronchitis, Congenital cystic adenomatoid malformation of the lung, Bronchiectasis, Rec... OMIM:279000
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Failure to thrive, Recurrent candida infections OMIM:269840
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr... OMIM:614372
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Abdominal colic, Diarrhea, Abdominal distention ORPHA:35122
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis OMIM:615947
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Sucrase-Isomaltase Deficiency, Congenital
Malabsorption, Diarrhea, Abdominal pain OMIM:222900
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Agammaglobulinemia 2, Autosomal Recessive
Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Sepsis, Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, ... ORPHA:70587
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Neuroendocrine Tumor Of The Rectum
Lack of bowel sounds, Tenesmus, Palpitations, Right ventricular failure, Bowel urgency, Hematoche... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Lack of bowel sounds, Tenesmus, Palpitations, Right ventricular failure, Bowel urgency, Hematoche... ORPHA:100082
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Neutropenia, Recurrent staphylococcal infections, ... ORPHA:70592
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis, Diverticulosis of trachea OMIM:275300
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Chronic atrophic gastritis, Weight loss, Colorectal p... ORPHA:160148
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Arrhythmia, Hepatomegaly, Congestive heart failure,... OMIM:602390
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Hereditary Angioedema Type 1
Intestinal edema, Abnormal soft palate morphology, Edema of the dorsum of hands, Abdominal pain, ... ORPHA:100050
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Abnormal peristalsis, Chronic diarrhea, Intestinal malrotation... OMIM:615237
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Morquio Syndrome C
Corneal opacity OMIM:252300
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, ... ORPHA:2198
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Cough, Dyspnea, Decreased DLCO OMIM:234810
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Adult Acute Respiratory Distress Syndrome
Dyspnea, Hypotension, Pneumonia, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancre... ORPHA:70578
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Elevated hepatic transaminase, Hepatomegaly, Conges... OMIM:613313
Dpm3-Cdg
Dilated cardiomyopathy, Elevated hepatic transaminase, Elevated creatine kinase after exercise ORPHA:263494
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604286
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Neuroendocrine Tumor Of The Colon
Lack of bowel sounds, Palpitations, Right ventricular failure, Bowel urgency, Abdominal pain, Hyp... ORPHA:100080
Cog7-Cdg
Hypertrophic cardiomyopathy ORPHA:79333
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Vomiting, Diarrhea OMIM:605911
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Chronic diarrhea, Failure to thrive, Steatorrhea OMIM:613291
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Congestive heart failure, Elevated circulating creatine kinase concentrat... OMIM:255160
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Failure to thrive, Abnormal intestine morphology, Vomiting, Feeding difficulties in inf... OMIM:606528
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Weight loss, Hemoptysis, Pulmonary... ORPHA:64741
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:154
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent fungal infections, Subarachnoid hemorrhage, Recurrent viral infectio... OMIM:243700
Complement Factor B Deficiency
Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Obesity, Recurrent bacterial infections, Frequent Gi... OMIM:300310
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Elevated hepatic tran... OMIM:612937
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Abnormal circulating... ORPHA:217607
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial... OMIM:608957
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Neutropenia, Pneumonia, Sinusitis, C... OMIM:601495
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Neutropenia, Recurrent bacterial ... OMIM:613502
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Atelectasis, Neona... OMIM:615294
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss, Protein-losing enteropathy, Dehydration, Diarrhea, Edema, Abdominal di... ORPHA:103910
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Recurrent opportunistic infections, Failure to thrive secondary to recurrent infections, Pneumoni... OMIM:608971
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Vascular Hyalinosis
Hematochezia, Subarachnoid hemorrhage, Protein-losing enteropathy, Diarrhea, Malabsorption OMIM:277175
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Reduced systolic func... OMIM:616827
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Lymphatic Malformation 7
Respiratory distress, Lymphedema, Pericardial effusion, Facial edema, Edema, Pulmonary edema, Non... OMIM:617300
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... OMIM:612444
Myelolymphatic Insufficiency
Recurrent viral infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent bacteria... OMIM:310350
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea OMIM:614102
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Arrhythmia, Mildly elevated creatine kinase, Elevated circulating creatine kinase concentration, ... OMIM:181350
Galactosialidosis
Corneal opacity ORPHA:351
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Diarrhea 2, With Microvillus Atrophy
Protracted diarrhea, Villous atrophy, Malnutrition, Abnormal intestine morphology OMIM:251850
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:300718
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615504
Butyrylcholinesterase Deficiency
Myocardial infarction, Abnormal enzyme/coenzyme activity, Congestive heart failure ORPHA:132
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, BCGosis, Severe toxoplasmosis, Lymphadenitis, Histoplas... ORPHA:319552
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Thrombocytopenia, Anemi... OMIM:617475
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Hematochezia, Abdominal pain, Dysphagia, Abnormality of the... ORPHA:2070
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, Recurrent infections, Anteverted nares, Chronic bronchitis, Depressed nasa... OMIM:614069
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Failure to thrive, Mucoid diarrhea OMIM:615767
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Abnormal pu... OMIM:616414
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections OMIM:618806
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy OMIM:610140
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated hepatic transaminase, Hypertrophic cardiomyopathy OMIM:614582
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Mitral regurgitation, Congestive heart failure, Atrial fibrillation OMIM:617047
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate... OMIM:600649
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Hypertension, Respiratory insufficiency OMIM:605711
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Pneumonia, Otitis media, Sinusitis OMIM:312863
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy, Diarrhea, Failure to thrive, Vomiting OMIM:615863
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough... OMIM:615451
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Myopathy, Distal, 1
Dilated cardiomyopathy, Mildly elevated creatine kinase, Elevated circulating creatine kinase con... OMIM:160500
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Diarrhea, Failure to thrive OMIM:610370
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Atelecta... OMIM:616726
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Hirschsprung Disease
Abdominal pain, Constipation, Aganglionic megacolon, Weight loss, Failure to thrive in infancy, F... ORPHA:388
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Hypertrophic cardiomyopathy OMIM:618250
Angioedema, Hereditary, 8
Episodic vomiting, Diarrhea, Abdominal pain OMIM:619367
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Neuroendocrine Tumor Of Stomach
Lack of bowel sounds, Poor appetite, Cardiogenic shock, Palpitations, Right ventricular failure, ... ORPHA:100075
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Joint hemorrhage, Gastrointestinal hemorrhage, Aortic regurgita... ORPHA:99147
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Weight loss, Ascites, Nausea a... ORPHA:26790
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Abdominal pain, Constipation, Gastroesophageal reflux, Diarrhea, Abn... ORPHA:263665
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Idiopathic Achalasia
Wheezing, Decreased prealbumin level, Cough, Bronchitis, Recurrent aspiration pneumonia ORPHA:930
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Winchester Syndrome
Corneal opacity OMIM:277950
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy OMIM:610768
Recurrent Respiratory Papillomatosis
Wheezing, Abnormal lung morphology, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Lymphocytic interstitial pneumonia OMIM:247610
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Functional intestinal obstruction, Intestinal malrotation, Colonic diverticula, Vomiting, Episodi... OMIM:243180
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, Failure to thrive secondary to recurrent infections, Purulent... OMIM:601457
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Elevated circulating creatine kinase concentration, Dilate... ORPHA:206559
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Respiratory tract infection, Wheezing, Dyspnea, Bron... ORPHA:60033
Nathalie Syndrome
Arrhythmia ORPHA:2663
Carcinoma Of Esophagus
Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Weight loss, Abnormal intestine morpholo... ORPHA:70482
Juvenile Polyposis Of Infancy
Abnormal bleeding, Hamartomatous polyposis, Intestinal bleeding, Gastrointestinal hemorrhage, Hem... ORPHA:79076
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Reduced systolic function, Hepatomeg... OMIM:618805
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Exertional dyspnea, Angina pectoris, Pulmonary arterial hypertension, ... OMIM:265400
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Decreased circulating ant... OMIM:615952
Salih Myopathy
Dilated cardiomyopathy, Arrhythmia, Elevated circulating creatine kinase concentration OMIM:611705
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis OMIM:618449
Danon Disease
Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated ci... OMIM:300257
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:34515
Visceral Myopathy 2
Megaduodenum, Esophagitis, Hiatus hernia, Dysphagia, Gastroesophageal reflux, Ineffective esophag... OMIM:619350
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Cough, Rhinorrhea, Chronic lung disease, Recurrent lower ... OMIM:618254
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Anal Sphincter Dysplasia
Encopresis, Constipation, Bowel incontinence, Chronic constipation, Diarrhea OMIM:105563
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:602541
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:608647
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Neonatal respira... OMIM:608644
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Hepatomegal... OMIM:619048
Systemic Capillary Leak Syndrome
Arrhythmia, Pericarditis, Cardiorespiratory arrest, Leukocytosis, Hypotension, Cough, Pleural eff... ORPHA:188
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Morphological abnormality of the gastrointestinal tract, Intestinal perforation, Gastrointestinal... ORPHA:464321
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivi... OMIM:612692
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Atelectasis, Hypertension, Recurrent pneumonia OMIM:268500
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:609200
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact... OMIM:614868
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Asthma OMIM:617638
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension OMIM:178500
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Hypertrophic cardiomyopathy OMIM:615395
Duodenal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Intestinal carcinoid, Arrhythmia, Functional intestinal obstruct... ORPHA:100076
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615505
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Congestive heart failure, Dilated cardiomyopathy, Hypertr... OMIM:302060
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Leukopenia, Shock, Neutrophilia, Respiratory distress, Increased circulating pr... ORPHA:36238
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Heart ... ORPHA:422
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:608099
Acute Lung Injury
Sepsis, Dyspnea, Respiratory distress, Abnormality of serum cytokine level, Pneumonia, Acute panc... ORPHA:178320
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Failure to thrive, Diarrhea, Abnormal intestine morphology OMIM:618495
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Esophagitis, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy OMIM:609016
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Scedosporiosis
Pleuritis, Pericarditis, Decreased pulmonary function, Cough, Pneumonia, Pulmonary tuberculosis, ... ORPHA:449280
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy OMIM:300580
Hyperaldosteronism, Familial, Type I
Hypertension, Hyperaldosteronism, Decreased circulating renin level, Adrenal hyperplasia, Adrenog... OMIM:103900
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis OMIM:617006
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:225
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Methionine Malabsorption Syndrome
Tachypnea, White hair, Blue irides OMIM:250900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Pulmonary arterial hypertension ORPHA:1164
Apolipoprotein A-I Deficiency
Corneal opacity ORPHA:425
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Gastrointestinal hemorrhage OMIM:262800
Myopathy, Centronuclear, 5
Dilated cardiomyopathy OMIM:615959
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Mercury Poisoning
Dyspnea, Respiratory distress, Interstitial pneumonitis, Hypotension, Hypertension, Hypokalemia, ... ORPHA:330021
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhinitis, Recurrent r... OMIM:618801
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Pleural effusion, Pedal edema, ... ORPHA:330001
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Cerebral ischemia ORPHA:3325
Familial Isolated Restrictive Cardiomyopathy
Dyspnea, Supraventricular arrhythmia, Peripheral edema, Orthopnea, Abnormal left ventricular func... ORPHA:75249
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Interstitial pneumonitis ORPHA:231154
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4
Premature graying of hair, Pulmonary fibrosis, Cough, Decreased DLCO, Honeycomb lung, Reduced for... OMIM:616371
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Hemochromatosis Type 2
Dilated cardiomyopathy, Elevated hepatic transaminase, Increased circulating ferritin concentration ORPHA:79230
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Zygomycosis
Peritonitis, Pericarditis, Ileitis, Melena, Diarrhea, Myocarditis, Sinusitis, Vomiting, Periorbit... ORPHA:73263
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Polymyositis
Arrhythmia, Pericarditis, Elevated aldolase level, Gastrointestinal hemorrhage, Abnormal mitral v... ORPHA:732
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Jaundice, Heart murmur, Congestive heart failure, Pulmon... ORPHA:615
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Muscular Dystrophy, Duchenne Type
Arrhythmia, Cardiomyopathy, Elevated circulating creatine kinase concentration, Congestive heart ... OMIM:310200
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Immunodeficiency 37
Encephalitis, Colitis OMIM:616098
Familial Hypofibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:98881
Linear Iga Dermatosis
Inflammation of the large intestine, Epistaxis ORPHA:46488
Erythroderma Desquamativum
Seborrheic dermatitis, Diarrhea, Failure to thrive ORPHA:314
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Constipation, Villous atrophy, Aganglionic megacolon,... ORPHA:95427
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Cardiomegaly OMIM:618654
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Dyspnea, Interstitial pneumonitis, Thyroiditis, Cough, Erythroderma, Hepatiti... ORPHA:139402
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent viral infections, Recurrent gastroenteritis, Stomatitis, Bronchiectasis OMIM:618648
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Cardiomyopathy, Atrial septal defect ORPHA:53296
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Amoebic Keratitis
Decreased corneal sensation, Scleritis, Abnormal corneal epithelium morphology, Corneal perforati... ORPHA:67043
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Cardiomyopathy, Familial Hypertrophic, 4
Dyspnea, Right bundle branch block, Pericardial effusion, Left bundle branch block, Atrioventricu... OMIM:115197
Combined Malonic And Methylmalonic Aciduria
Vomiting, Diarrhea, Failure to thrive OMIM:614265
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Sinus bradycar... ORPHA:101016
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Recurrent bacterial skin infections, Chronic otitis media, Recurrent sinusitis... ORPHA:217390
Sandhoff Disease
Hepatomegaly, Congestive heart failure, Splenomegaly ORPHA:796
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Bronchiectasis, Recurrent sinusitis, Pneumoni... OMIM:615207
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Ethanolaminosis
Cardiomegaly OMIM:227150
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Abdominal pain, Rectal prolapse, Diarrhea... OMIM:174900
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Mitral regurgitation, Aortic regurgitation OMIM:614651
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Immunodeficiency 76
Recurrent pneumonia, Chronic diarrhea, Colitis OMIM:619164
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR interval, Cardiome... OMIM:261740
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe... ORPHA:572
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Uveitis, Punctate keratitis, Keratoconjunctivitis sicca, Corneal neovascularization OMIM:617388
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
Myopathy, X-Linked, With Postural Muscle Atrophy
Elevated circulating creatine kinase concentration, Arrhythmia, Hypertrophic cardiomyopathy OMIM:300696
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615067
Myopathy, Autophagic Vacuolar, Infantile-Onset
Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy OMIM:609500
Atransferrinemia
Congestive heart failure, Atransferrinemia OMIM:209300
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Congestive heart failure, Hepatic failure, Dilated cardiomyopathy,... OMIM:611126
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Multiple gastric polyps, Abnormal bleeding, Rectal polyposis, Hematochezia, Small intestinal poly... ORPHA:329971
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:608184
Ménétrier Disease
Multiple gastric polyps, Malnutrition, Gastrointestinal hemorrhage, Abdominal pain, Helicobacter ... ORPHA:2494
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent res... OMIM:612649
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Heart murmur, Congestive heart failure, Ventricular hypertrophy ORPHA:3400
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Elevated hepatic transaminase, Hypotension, Ventricular extrasystoles, V... OMIM:212138
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Cough, Nasal polyposis, Chronic rhinitis, Chronic sinusitis, Recurrent respirator... OMIM:617092
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Panniculitis, Increased circulating interleukin 6, Cystic acne, Elevated... OMIM:608068
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:605115
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Acne, Colitis, Hepatitis, Recurrent skin infec... OMIM:300635
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cata