Gene Summary

Name:
latent transforming growth factor beta binding protein 4
Synonyms:
2310046A13Rik

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
abnormal sternum morphology Ltbp4em1(IMPC)Tcp HOM Early adult 0.00
enlarged spleen Ltbp4em1(IMPC)Tcp HOM Early adult 0.00
decreased grip strength Ltbp4em1(IMPC)Tcp HOM Early adult 6.69×10-05

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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.

Gross Pathology and Tissue Collection

Images

9 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Ltbp4 mutations

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

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

The table below shows human diseases associated to Ltbp4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Pyloric stenosis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Ga... OMIM:613177
Duchenne Muscular Dystrophy
Cardiomyopathy ORPHA:98896

The table below shows human diseases predicted to be associated to Ltbp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Chronic bronchitis, Gastric varix, Cirrhosis, Panacinar emphysema, Dyspnea, Bronchi... OMIM:613490
Bronchopulmonary Dysplasia
Small for gestational age, Right ventricular failure, Atelectasis, Respiratory distress, Emphysem... ORPHA:70589
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the rectum, Neop... ORPHA:424019
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Abnormality of the diaphragm, Atelectasis, Abnormal... ORPHA:2357
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy OMIM:616500
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Peutz-Jeghers Syndrome
Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Abdominal ... ORPHA:2869
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Verrucae, Necrotizing enterocolitis OMIM:613860
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Abnormal heart morphology OMIM:614100
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Skeletal muscle atrophy, Atelectasis, Axial muscle atrophy, Right bundle branch bl... ORPHA:254361
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pulmonary infiltrates, He... OMIM:612387
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Chronic diarrhea, B-cell... OMIM:619164
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Birt-Hogg-Dubé Syndrome
Emphysema, Medullary thyroid carcinoma, Multiple lipomas, Pneumothorax, Renal cell carcinoma, Par... ORPHA:122
Cutis Laxa-Marfanoid Syndrome
Emphysema, Abnormal heart valve morphology ORPHA:171719
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis... ORPHA:2302
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I... OMIM:611880
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613122
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis OMIM:615872
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... OMIM:613255
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Myocardial infarction, Acute infectious pneumonia, Dyspne... ORPHA:60033
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr... ORPHA:60032
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Respiratory distress, Recurrent respiratory infections, Chronic otit... OMIM:619466
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Aspiration pneumonia, Respiratory distress, Feeding difficulties, Gastrostomy tube ... ORPHA:141152
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Refractory anemia, Adenomatous colonic polyposis, Thyroid carcinoma, ... ORPHA:157794
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Epi... ORPHA:209964
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Pleural Mesothelioma
Respiratory distress, Obstruction of the superior vena cava, Abnormal pleura morphology, Abnormal... ORPHA:50251
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Burkitt lymphoma, Disseminated cutaneous warts OMIM:618307
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cerebral berry aneurysm OMIM:210050
Hypocomplementemic Urticarial Vasculitis
Uveitis, Diarrhea, Conjunctivitis, Lymphoma, Emphysema, Ascites, Abnormal heart valve morphology,... ORPHA:36412
Congenital Tracheomalacia
Ventricular septal defect, Atrial septal defect, Single ventricle, Double aortic arch, Patent duc... ORPHA:95430
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Chronic diarr... OMIM:618394
Primary Ciliary Dyskinesia
Atelectasis, Polysplenia, Intestinal malrotation, Atrial situs ambiguous, Pulmonary situs ambiguu... ORPHA:244
Punctate Palmoplantar Keratoderma Type 1
Basal cell carcinoma, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophageal neop... ORPHA:79501
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hilar lymph node enlargement, Ground-glass opacification, Cholestasis, Recurrent otitis media, Mi... OMIM:620233
Neuroendocrine Neoplasm Of Appendix
Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anorexia, Appendiceal mucinous n... ORPHA:100079
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Exertional dyspnea, Recurre... ORPHA:3348
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress, Splenomegaly, Hepatomegaly, Cardiac arrest... ORPHA:77260
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the rectum, Neop... ORPHA:424016
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Hypereosinophilia, Parenchymal consolidation, Pleural effusion, L... ORPHA:2902
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Chronic otitis media, Lymphoma, Emphysema, Lymphopenia, Abnormality of the... ORPHA:1572
Congenital Gerbode Defect
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... ORPHA:99095
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Interst... OMIM:616433
Ganglioneuroma
Gastrointestinal hemorrhage, Central hypoventilation, Abnormal rectum morphology, Ganglioneuroma,... ORPHA:251992
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Concentric hype... OMIM:619402
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Immunodeficiency, Common Variable, 11
Abnormal T cell count, Inflammation of the large intestine, Mucoid diarrhea, Crohn's disease, Dec... OMIM:615767
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p... OMIM:178600
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Tachypnea, Singl... ORPHA:3384
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Pyloric stenosis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Ga... OMIM:613177
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis ORPHA:88643
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Psoriasifo... OMIM:243150
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Tachypnea, Elevat... ORPHA:1329
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P... OMIM:613690
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Chronic sinusiti... ORPHA:922
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Bronchitis, Emphysema, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice... ORPHA:60
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Familial Idiopathic Dilatation Of The Right Atrium
Holosystolic murmur, Arrhythmia, Hepatomegaly, Right atrial enlargement, Abnormal jugular vein mo... ORPHA:1677
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Pulmonary cyst, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pa... OMIM:147060
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Entero... OMIM:612567
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Eosinophilia, Chronic dia... OMIM:617638
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Pancytopenia, Pulmonary infiltrates, Iridocyclitis, Anorexia... OMIM:181000
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Reduced natural killer cell count, Secretory diarrhea, Pancytopenia,... OMIM:616050
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Ground-glass opacification, Cystic pattern on pulmonary HRCT, ... OMIM:610978
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Pulmonary arterial hypertension, Bronchiectasis ORPHA:1164
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... ORPHA:247798
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea OMIM:267450
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:613286
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Vascu... OMIM:620321
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Congestive heart failure, Abnormal pericardium morphology, Protracted diarrhea, Bloody ... ORPHA:67
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, Medullo... OMIM:276300
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Meconium Aspiration Syndrome
Atelectasis, Transient pulmonary infiltrates, Respiratory distress, Aspiration pneumonia, Pneumot... ORPHA:70588
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Restrictive Dermopathy 2
Respiratory distress, Gastroesophageal reflux, Rectal prolapse, Feeding difficulties OMIM:619793
Cystic Fibrosis
Cor pulmonale, Recurrent pneumonia, Bronchiectasis, Biliary cirrhosis, Diarrhea, Meconium ileus, ... OMIM:219700
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Inflammation of the large intestine, Thrombocytosis, Leukocytosis, Recurrent... OMIM:619281
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Emphysema, Ungual fibroma, Ascites, Pulmon... ORPHA:538
Immunodeficiency 104
Pneumonia, Gastroesophageal reflux, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candid... OMIM:608971
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, ... ORPHA:555874
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Congestive heart failure, Respiratory distress, Ascites, Tricuspid regur... ORPHA:2414
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Recurrent l... ORPHA:436159
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Cardiac arrest... ORPHA:70587
Immunodeficiency 70
Verrucae, Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Colitis, Acha... OMIM:618969
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Verrucae, Lymphaden... ORPHA:51636
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Ground-glass opacification, Nodular pattern on pulmonary HRCT, Follicular hyperpla... ORPHA:60026
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Respiratory distress, Intestinal malrotation, Congenital dia... ORPHA:2140
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum ... OMIM:601612
Zygomycosis
Diarrhea, Pulmonary infiltrates, Ileitis, Pustule, Hematological neoplasm, Acute infectious pneum... ORPHA:73263
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Failure to thrive, Congestive heart failure, Noctu... ORPHA:324604
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont... OMIM:604416
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split... OMIM:253700
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Abnormality of the liver, Hemangioma, Iron deficiency anemia, Thro... OMIM:112200
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Joint contracture of the hand, Pericardial lymphangiectasia, Erysipel... OMIM:235510
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Orthopnea, Patent ductus ... ORPHA:3092
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Ground-glass opacification, Lymphopenia, Recurre... OMIM:619773
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Atelectasis, Bilateral cryptorchidism, Respiratory di... OMIM:300219
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermati... OMIM:618935
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Spl... ORPHA:1802
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic regurgitation, Aortic root aneurysm, Paroxysmal dyspne... ORPHA:229
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Neonatal death, Bicuspid aortic ... OMIM:265380
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Ascit... OMIM:306400
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Asymmetric septal hypert... OMIM:620236
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Diarrhea, Skin rash, Peri... OMIM:618108
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomeruloneph... OMIM:617006
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Abdomi... OMIM:174900
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular esc... OMIM:108770
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Knee flexion contractur... OMIM:619708
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Congestive heart failure, Tricuspid regurgitation, Palpitations, Inc... ORPHA:275766
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Loeys-Dietz Syndrome 4
High, narrow palate, Bifid uvula, Aortic root aneurysm, Aortic dissection, Broad uvula, Arterial ... OMIM:614816
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Uterine neoplasm, Bile duct polyp, Bloody diarrh... OMIM:175200
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pulmonary bulla, Hypochromic microcytic anemia, Pleural thickening, Recurrent lo... OMIM:619632
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Tachypnea, Arrhythmia, Orthopnea, Atrial septal def... ORPHA:2041
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Hypertension, Lung adenocarcinoma OMIM:618913
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... OMIM:613876
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... OMIM:612124
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive, Congestive heart failure, Hype... OMIM:614096
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Recurrent sinusi... OMIM:615067
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ... ORPHA:2686
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Small bowel diverticula, Congestive he... ORPHA:90349
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
X-Linked Centronuclear Myopathy
Pneumonia, Centrally nucleated skeletal muscle fibers, Respiratory distress, Weakness of facial m... ORPHA:596
Hypophosphatasia
Emphysema, Anemia, Feeding difficulties in infancy ORPHA:436
Anaplastic Thyroid Carcinoma
Goiter, Respiratory distress, Abnormal skeletal muscle morphology, Anaplastic thyroid carcinoma, ... ORPHA:142
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Respiratory distress, Recurrent acute ... OMIM:620011
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Decre... OMIM:614878
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Orthopnea, Hepatomegaly, Dysphagia, Vasculitis, Hypertrophic cardiomy... ORPHA:365
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Pulmonary infiltrates, ... ORPHA:3260
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Muscular dystrophy, Gastroesophageal reflux, Atelectasis, Cardiomyopathy, Absent mu... ORPHA:258
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Oligohydramnios, Left ventricular hypertrophy, Flexion contracture, Hyperte... OMIM:616733
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy OMIM:212130
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Leukocytosis, Reticulocyt... ORPHA:90038
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Squamous cell carcinoma of the skin, Lymphopenia, Myelodysplasia, Portal hypertension,... OMIM:620365
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Recurrent upper respiratory tract infections, Failure to thrive, Respiratory distr... OMIM:263000
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Protracted diarr... OMIM:209920
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... OMIM:619705
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Lymphoma, Recurrent otitis media, Splenomegaly, Chronic sinusit... ORPHA:397596
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Pulmonary edema, Orthopne... ORPHA:980
Combined Oxidative Phosphorylation Defect Type 23
Paroxysmal dyspnea, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Sev... ORPHA:444013
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hypertrophic cardiomyopath... OMIM:201475
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ... OMIM:123700
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Abdominal pain, Col... OMIM:203300
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Syncope, Exertional dyspnea, Pulmonary arterial hyper... OMIM:265400
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, E... ORPHA:363618
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Tachypnea, Single ventricle, Patent ductus arte... ORPHA:2299
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Consti... ORPHA:26790
Fabry Disease
Nausea and vomiting, Mitral regurgitation, Arrhythmia, Achalasia, Anorexia, Abdominal pain, Hyper... ORPHA:324
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Perching Syndrome
Respiratory distress, Joint contracture, Camptodactyly, High palate, Dysphagia, Feeding difficulties OMIM:617055
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Respiratory distress, Pleural effusion, Pneumothorax, Lymphadenopathy, Dyspnea, Pericar... ORPHA:411703
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Atelectasis, Anteriorly placed anus, Abnormal pattern of respirati... ORPHA:728
Cocaine Intoxication
Rhabdomyolysis, Pulmonary infiltrates, Pulmonary edema, Tachypnea, Glomerulonephritis, Tubulointe... ORPHA:90068
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Shigellosis
Microangiopathic hemolytic anemia, Cholestasis, Rhabdomyolysis, Anorexia, Abdominal pain, Intesti... ORPHA:810
Distal Nebulin Myopathy
Nemaline bodies, Ankle flexion contracture, Sternocleidomastoid amyotrophy, Cardiomyopathy, Foot ... ORPHA:399103
Thymoma
Rheumatoid arthritis, Aplastic anemia, Leukemia, Imbalanced hemoglobin synthesis, Ulcerative coli... ORPHA:99867
Linear Iga Dermatosis
Renal neoplasm, Epistaxis, Inflammation of the large intestine, Bladder neoplasm ORPHA:46488
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Myopathy, Decreased body weight, Type 1 fibers rela... OMIM:300580
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis ORPHA:896
Lujo Hemorrhagic Fever
Diarrhea, Lymphopenia, Dysphagia, Shock, Bradycardia, Hypotension, Vomiting, Atelectasis, Respira... ORPHA:319213
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Limb muscle weakness, Myopathy, Feeding difficulties in infancy, Type 2 mus... OMIM:605809
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Chronic sinusitis, Chronic ... OMIM:244400
Immunodeficiency 37
Colitis, Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta... OMIM:616098
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy OMIM:611556
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Cystic Fibrosis
Gastroesophageal reflux, Meconium ileus, Exocrine pancreatic insufficiency, Abnormality of the li... ORPHA:586
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Nocardiosis
Lymphadenitis, Scleritis, Anorexia, Endocarditis, Cutaneous abscess, Osteomyelitis, Pleural effus... ORPHA:31204
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
High, narrow palate, Increased variability in muscle fiber diameter, Apnea, Type 1 muscle fiber p... OMIM:612949
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Hypertrophic cardiomyopathy, Ragged-red muscle fibers... OMIM:613561
Cutis Laxa, Autosomal Recessive, Type Ia
Aortic regurgitation, Peripheral pulmonary artery stenosis, Vascular tortuosity, Emphysema, Oligo... OMIM:219100
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Gastroesophageal reflux, Camptodactyly of finger,... OMIM:614399
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... ORPHA:91387
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Verrucae, C... OMIM:618131
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial... ORPHA:99050
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Respiratory distress, Type 2 muscle fiber atrophy, Apneic epi... OMIM:254210
Mantle Cell Lymphoma
Splenomegaly, B-cell lymphoma, Abnormality of the gastrointestinal tract, Lymphadenopathy, Anorexia ORPHA:52416
Tularemia
Pneumonia, Cutaneous abscess, Conjunctivitis, Respiratory distress, Cervical lymphadenopathy, Abn... ORPHA:3392
Li-Fraumeni Syndrome
Choriocarcinoma, Stomach cancer, Melanoma, Neoplasm of the rectum, Hodgkin lymphoma, Acute myeloi... ORPHA:524
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Dilatation of the cerebr... ORPHA:615
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Respiratory distress, Type 1 muscle fiber predomin... ORPHA:98915
Combined Oxidative Phosphorylation Deficiency 30
Gastroesophageal reflux, Decreased liver function, Respiratory distress, Left ventricular hypertr... OMIM:616974
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of ... OMIM:620189
Short-Rib Thoracic Dysplasia 12
Pulmonary hypoplasia, Periportal fibrosis, Atelectasis, Hamartoma of tongue, Intestinal malrotati... OMIM:269860
Microcephaly-Capillary Malformation Syndrome
Failure to thrive, Right ventricular hypertrophy, Patent foramen ovale, Ventricular septal defect... OMIM:614261
Neonatal Marfan Syndrome
High, narrow palate, Abnormal cardiac ventricle morphology, Aortic root aneurysm, Emphysema, Tric... ORPHA:284979
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Abnormality of the liver, Ragged-red muscle fibers, Myopathy, Increased mus... ORPHA:254864
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... ORPHA:363705
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... OMIM:132900
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa... ORPHA:63273
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Vascular tortuosity... OMIM:614437
Netherton Syndrome
Eczematoid dermatitis, Emphysema, Malabsorption, Skin rash, Erythroderma, Recurrent respiratory i... ORPHA:634
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Chronic diarrhea,... OMIM:614602
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Cryptorchidism, Congenital diaphragmatic hernia,... OMIM:615524
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:302045
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Ventricular ... ORPHA:124
Farber Disease
Hepatic fibrosis, Recurrent upper respiratory tract infections, Hepatic failure, Skeletal muscle ... ORPHA:333
Esophageal Atresia
Esophagitis, Abnormal gastrointestinal tract morphology, Episodic respiratory distress, Ventricul... ORPHA:1199
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula... OMIM:613874
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Ventricular septal defect, Tachypnea, Arrhythmia, Atrial se... ORPHA:26793
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Dilated cardiomyopathy, Skeletal muscle atrophy, Decreased liver function, Conge... ORPHA:367
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colonic diverticula, Malignant genitourinary tract tumor, Duodenal ade... OMIM:158320
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent otitis media, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Failure to thrive in infancy, Foam cells, Tachypnea, ... ORPHA:264675
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Diarrhea, Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Leuk... OMIM:618278
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Res... ORPHA:210122
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Failure to thrive, Ground-glass... ORPHA:99931
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Lymphoma, Atelectasis, Osteomyelitis, Skin rash, Eosinophilia, Recurrent r... ORPHA:2314
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Abdominal pain, H... OMIM:616809
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Hematological... ORPHA:158057
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Abnormal gastrointestinal tract m... ORPHA:141127
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Rajab Interstitial Lung Disease With Brain Calcifications 1
Gastroesophageal reflux, Vomiting, Decreased liver function, Emphysema, Intestinal malrotation, C... OMIM:613658
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Lymphadeno... OMIM:619375
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Cholestasis, Villous atrophy, Abnormal small intestin... ORPHA:95427
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal intesti... ORPHA:391487
Syndromic Diarrhea
Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ... ORPHA:84064
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Ano... OMIM:619381
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Skeletal muscle atrophy, Respiratory distress, Myopathy, Spinal muscular atr... ORPHA:254875
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Hepatic failure, Increas... OMIM:620367
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Apc-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Mul... ORPHA:247806
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill... OMIM:301074
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Mitra... OMIM:619472
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T c... ORPHA:3261
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Diarrhea, Eczematoid dermatitis... OMIM:616100
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ... ORPHA:733
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Marfan Syndrome
Aortic root aneurysm, Slender build, Mitral regurgitation, Mitral valve prolapse, Cachexia, Aorti... ORPHA:558
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid r... ORPHA:75249
Polyarteritis Nodosa
Cardiomyopathy, Hypertension, Abdominal pain, Abnormality of the gastrointestinal tract, Raynaud ... ORPHA:767
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Failure to thrive, Oligohydramnios, Patent foramen ovale, Ventricular ... OMIM:208085
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1166
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Groun... ORPHA:2032
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Diffuse reticular or finely nodular infiltrat... OMIM:607616
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect... OMIM:306955
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Respiratory distress, Shock, Leukopenia, Pleural effusion, Parenchymal co... ORPHA:36238
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Abnor... OMIM:208530
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Ventricular septal defect, Hepatomegaly, Pruritus, Arthrogryposis multiplex co... OMIM:613404
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Cardiomyopathy, Supraventricular tachycardia, Myopathy, Fatty replacement of skeletal muscle, Dys... OMIM:255100
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology ORPHA:101009
Polymyositis
Abnormal mitral valve morphology, Arrhythmia, Anorexia, Hepatomegaly, Abdominal pain, Vasculitis,... ORPHA:732
Alpha-Heavy Chain Disease
Lymphoma, Ascites, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Anemia, Lymp... ORPHA:100025
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Barth Syndrome
Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
American Trypanosomiasis
Diarrhea, Cardiomyopathy, Congestive heart failure, Splenomegaly, Skin rash, Infectious encephali... ORPHA:3386
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Intestinal perforation, Pleural empyema, Gastrointestinal infarctions, ... ORPHA:544482
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect, Abnormal aortic morphology, Abnormal lung lobation ORPHA:2516
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Recurrent upper respiratory tract infections, Congestive heart failure, Dia... ORPHA:423461
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Hy... ORPHA:98813
Meier-Gorlin Syndrome 4
Emphysema, Breast hypoplasia, Cryptorchidism, Feeding difficulties OMIM:613804
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Respiratory tract infection, Splenomegaly, Autoim... ORPHA:444463
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... OMIM:261740
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Dilated cardi... OMIM:615895
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Arrhythmia, Erythema nodosum, Hepatom... ORPHA:797
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Ortho... ORPHA:563
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect OMIM:619170
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Respiratory distress, Hypertrophic cardiomyopathy, Myopathy, Low-output conges... ORPHA:91130
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Congenital Fibrinogen Deficiency
Volvulus, Left ventricular hypertrophy, Internal hemorrhage, Tachycardia, Right ventricular hyper... ORPHA:335
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy OMIM:609500
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Leukopenia, Cryptorchidism, Ventricular septal defect, Feeding difficulties in infanc... OMIM:301056
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... ORPHA:1457
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Failure to thrive, Recurrent bronchiolitis, Pustule, Coarctation of aorta, P... OMIM:616069
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticul... OMIM:115470
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Spider hemangioma, Viral hepati... ORPHA:2137
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Respiratory distress, Ascites, Increased nuchal translucen... OMIM:617300
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... ORPHA:45452
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Primary Effusion Lymphoma
Pleural effusion, B-cell lymphoma, Abnormal peritoneum morphology, Abdominal distention, Dyspnea,... ORPHA:48686
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hypertrophic cardiomyopathy, Heart murmur, Respiratory tract infection, Fac... ORPHA:308552
Familial Adenomatous Polyposis 1
Osteoma, Adrenocortical adenoma, Fibroadenoma of the breast, Duodenal adenocarcinoma, Duodenal po... OMIM:175100
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Shock, Pulmonary infiltrates, Tachy... ORPHA:178320
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Ventricular septal defect, Coarctation of aorta, Hepatomegaly, Recurrent respirator... OMIM:620210
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Dilatation of the cerebral arte... OMIM:130050
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardi... OMIM:614702
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Aplas... OMIM:614742
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Eosinophilia, Familial
Recurrent bronchitis, Myocardial eosinophilic infiltration, Pulmonary infiltrates OMIM:131400
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Stuve-Wiedemann Syndrome 2
Eczematoid dermatitis, Congestive heart failure, Respiratory distress, Pulmonary arterial hyperte... OMIM:619751
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal heart morphology, Tetralogy of Fallot, Part... ORPHA:2847
Birt-Hogg-Dube Syndrome 1
Spontaneous pneumothorax, Cutaneous leiomyoma, Trichodiscoma, Cutaneous leiomyosarcoma, Multiple ... OMIM:135150
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Ascites, Azoospermia, Pleural effusion, Splenomegaly, C... OMIM:235200
Cirrhotic Cardiomyopathy
Congestive heart failure, Ascites, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary... ORPHA:57777
Immunodeficiency 87 And Autoimmunity
Biventricular hypertrophy, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, ... OMIM:619573
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Conjunctivitis, Respiratory distress, Acute hepatic failure, Abnorma... ORPHA:537
Avian Influenza
Pneumonia, Myelitis, Diarrhea, Vomiting, Hepatitis, Conjunctivitis, Congestive heart failure, Res... ORPHA:454836
Double Outlet Right Ventricle
Hypoplastic left heart, Failure to thrive, Tetralogy of Fallot, Intestinal malrotation, Heart mur... ORPHA:3426
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Chylothorax, Subdural hemorrhage, Skeletal muscle... OMIM:620278
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Aspergillosis
Ground-glass opacification, Pulmonary infiltrates, Hematological neoplasm, Neutropenia, Osteomyel... ORPHA:1163
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Recurrent pneumonia, Inflammation of the large inte... OMIM:617718
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Arrhythmia, Acute infectio... ORPHA:707
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Peripheral pulmonary artery stenosis, Bronchiolitis, Vomiting, Small bowel ... ORPHA:90348
Meier-Gorlin Syndrome 6
Gastroesophageal reflux, Emphysema, Decreased response to growth hormone stimulation test, Feedin... OMIM:616835
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Ri... ORPHA:99106
Coproporphyria, Hereditary
Diarrhea, Vomiting, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri... OMIM:121300
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Ellis Van Creveld Syndrome
Acute leukemia, Emphysema, Atrioventricular canal defect, Abnormal heart valve morphology, Situs ... ORPHA:289
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Respiratory distress, Hepatic steatosis, Myopathy, Feeding difficulties ORPHA:26792
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cholestasis, Pancytopenia, Splenomegaly, Ventricular septal ... OMIM:614576
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, Cryptorchidism, Small thenar eminence, Rectal atresia, Anal atresia OMIM:613390
Meckel Syndrome, Type 7
Aortic valve stenosis, Hepatosplenomegaly, Oligohydramnios, Situs inversus totalis, Portal hypert... OMIM:267010
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Myeloproliferative disorder, Endocardial fibrosis OMIM:607685
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis OMIM:301220
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Recurrent otitis media, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Decrease... OMIM:300853
Adams-Oliver Syndrome 5
Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Esophageal varix, Right atri... OMIM:616028
Reactive Arthritis
Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Osteomyelitis, Abnormal pleu... ORPHA:29207
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Median cleft palate, Gingival fibromatosis ORPHA:1832
Marfan Syndrome
Aortic regurgitation, Mitral annular calcification, Narrow palate, Pulmonary artery dilatation, A... OMIM:154700
Sepsis In Premature Infants
Hypotension, Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Functional abnor... ORPHA:90051
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Respiratory distress, Anorexia, Nausea and vomiting, Splenomegaly, Anemia, Pancre... ORPHA:79312
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, B-cell ly... OMIM:620532
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Abnormal lung lobation, Intestinal malrotation, Abnormalit... ORPHA:2538
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Skin rash, Infectious encephaliti... ORPHA:99745
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Hypoglossia With Situs Inversus
Microglossia, Polysplenia, Malnutrition, Respiratory distress, Situs inversus totalis, Feeding di... OMIM:612776
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Respiratory distress, Aglossia, Situs inversus total... OMIM:202650
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Dubowitz Syndrome
Anal stenosis, Abnormality of neutrophils, Eczematoid dermatitis, Lymphoma, Neoplasm, Malabsorpti... ORPHA:235
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hemophagocytosis, Decreased liver function, Splenomegaly, Skin rash, I... ORPHA:540
Carnitine Deficiency, Systemic Primary
Diarrhea, Vomiting, Cardiomyopathy, Congestive heart failure, Respiratory distress, Decreased car... OMIM:212140
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Ventricular septal hyper... OMIM:115195
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri... OMIM:613751
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Peripheral pulmonary artery stenosis, Anal stenosis, Aor... ORPHA:280633
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Situs inversus totalis, Otitis media, Sinusitis, Dextrocardia, Absent inner... OMIM:606763
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... ORPHA:1143
Meier-Gorlin Syndrome 1
Joint contracture of the hand, Gastroesophageal reflux, Respiratory distress, Emphysema, Breast h... OMIM:224690
Umbilical Cord Ulceration-Intestinal Atresia Syndrome