Gene: Acvrl1 MGI:1338946

Registered for phenotyping at IMPC

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

Gene Summary

Name:

activin A receptor, type II-like 1

Synonyms:

Alk1, Alk-1, activin receptor-like kinase-1, Acvrlk1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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 Acvrl1 mutations

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

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

Human diseases associated with Acvrl1 (2 diseases)
Human diseases predicted to be associated with Acvrl1 (1314 diseases)

The table below shows human diseases associated to Acvrl1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hereditary Hemorrhagic Telangiectasia		Retinal telangiectasia, Subarachnoid hemorrhage, Pulmonary embolism, Transient ischemic attack, C...	ORPHA:774
Telangiectasia, Hereditary Hemorrhagic, Type 2		Cyanosis, Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous...	OMIM:600376

The table below shows human diseases predicted to be associated to Acvrl1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastroesophageal reflux, Poor suck, Nausea and vomiting, Abnormal large intestine morphology, Poo...	ORPHA:2198
Plasma Clot Retraction Factor, Deficiency Of	Bruising susceptibility, Poor wound healing, Gastrointestinal hemorrhage	OMIM:262800
Isolated Polycystic Liver Disease	Gastroesophageal reflux, Abnormality of the pancreas, Feeding difficulties in infancy, Abdominal ...	ORPHA:2924
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Abnormal bleeding, Biliary tra...	ORPHA:79301
Telangiectasia, Hereditary Hemorrhagic, Type 5	Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia, Elevated hepatic transaminase	OMIM:615506
Paragangliomas 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy, Hepatomegaly	ORPHA:79281
Familial Hypofibrinogenemia	Epistaxis, Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage	ORPHA:101041
Familial Dysfibrinogenemia	Epistaxis, Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage	ORPHA:98881
Porokeratosis 2, Palmar, Plantar, And Disseminated Type	Palmar telangiectasia, Plantar telangiectasia	OMIM:175850
Non-Involuting Congenital Hemangioma	Subcutaneous calcification, Congestive heart failure, Prominent superficial veins, Hepatic hemang...	ORPHA:141179
Factor Vii And Factor Viii, Combined Deficiency Of	Intestinal bleeding	OMIM:134430
Moyamoya Disease 1	Telangiectasia, Inflammatory arteriopathy	OMIM:252350
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Familial Cylindromatosis	Telangiectasia of the skin	ORPHA:211
Rapidly Involuting Congenital Hemangioma	Subcutaneous calcification, Congestive heart failure, Prominent superficial veins, Hepatic hemang...	ORPHA:141184
Nephrosialidosis	Pericardial effusion, Ascites, Bone-marrow foam cells	OMIM:256150
Mastocytosis, Cutaneous	Telangiectasia macularis eruptiva perstans, Erythema, Urticaria	OMIM:154800
Congenital Factor V Deficiency	Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce...	ORPHA:326
Uv-Sensitive Syndrome 3	Cutaneous photosensitivity, Telangiectasia	OMIM:614640
Immune Thrombocytopenia	Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G...	ORPHA:3002
Budd-Chiari Syndrome	Cirrhosis, Malabsorption, Jaundice, Peritonitis, Elevated hepatic transaminase, Abdominal pain, C...	ORPHA:131
Capillary Malformation-Arteriovenous Malformation 2	Telangiectasia	OMIM:618196
Familial Multiple Trichoepithelioma	Telangiectasia of the skin	ORPHA:867
Cholestasis-Lymphedema Syndrome	Cirrhosis, Nausea and vomiting, Jaundice, Abdominal pain, Acholic stools, Biliary tract abnormali...	ORPHA:1414
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Premature graying of hair, Retinal telangiectasia, Gastrointestinal hemorrhage, Esophageal varix,...	OMIM:617341
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Bruising susceptibility	OMIM:137560
Cerebral Cavernous Malformations 2	Telangiectasia, Cerebral hemorrhage	OMIM:603284
Neuroendocrine Tumor Of The Rectum	Hypotension, Bloody diarrhea, Facial telangiectasia, Abdominal pain, Elevated hepatic transaminas...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hypotension, Bloody diarrhea, Facial telangiectasia, Abdominal pain, Elevated hepatic transaminas...	ORPHA:100082
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Petechiae, Bruising susceptibility, Erythema, Vascular skin ...	ORPHA:280779
Neuroendocrine Tumor Of The Colon	Hypotension, Bloody diarrhea, Facial telangiectasia, Abdominal pain, Elevated hepatic transaminas...	ORPHA:100080
Ethanolaminosis	Cardiomegaly	OMIM:227150
Bernard-Soulier Syndrome	Abnormal bleeding, Purpura, Epistaxis, Gingival bleeding, Gastrointestinal hemorrhage, Menorrhagi...	OMIM:231200
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly	ORPHA:294
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the liver, Nausea and vomiting, Abdominal pain, Intes...	ORPHA:543
Dengue Fever	Hypotension, Diarrhea, Cerebral hemorrhage, Petechiae, Nausea and vomiting, Abdominal pain, Bruis...	ORPHA:99828
Congenital Factor X Deficiency	Prolonged bleeding after surgery, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, ...	ORPHA:328
Moyamoya Disease	Telangiectasia	ORPHA:2573
Telangiectasia, Hereditary Benign	Diffuse telangiectasia	OMIM:187260
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding	OMIM:600195
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Myocardial infarction, Hypertension	OMIM:608320
Familial Aortic Dissection	Patent ductus arteriosus, Aortic root aneurysm, Cardiomegaly, Descending aortic dissection, Mucoi...	ORPHA:229
Uv-Sensitive Syndrome 1	Cutaneous photosensitivity, Telangiectasia	OMIM:600630
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Elevated circulating alanine aminotransferase concentration, Vomiting, Diarrhea, Elevated circula...	OMIM:605911
Hemophilia A	Intracranial hemorrhage, Splenic rupture, Bleeding with minor or no trauma, Oral cavity bleeding,...	ORPHA:98878
Rombo Syndrome	Facial telangiectasia	OMIM:180730
Intracranial Hypertension, Idiopathic	Papilledema, Hypertension	OMIM:243200
Klippel-Trénaunay Syndrome	Patent ductus arteriosus, Pulmonary embolism, Abnormality of the pulmonary artery, Atrial septal ...	ORPHA:90308
Angioma, Hereditary Neurocutaneous	Gastrointestinal hemorrhage	OMIM:106070
Diffuse Cutaneous Mastocytosis	Hypotension, Darier's sign, Vomiting, Abnormality of the liver, Diarrhea, Dermatographic urticari...	ORPHA:79456
Capillary Malformation-Arteriovenous Malformation 1	Arteriovenous malformation, Arteriovenous fistula	OMIM:608354
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Esophage...	ORPHA:64743
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Diarrhea, Vasculitis, Abdominal pain, Acrocyanosis, Purpura, Intes...	ORPHA:343
Hemochromatosis, Type 1	Cirrhosis, Telangiectasia, Abdominal pain, Elevated hepatic transaminase, Hepatocellular carcinom...	OMIM:235200
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy...	OMIM:613424
Cholestasis, Progressive Familial Intrahepatic, 11	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:619874
Glanzmann Thrombasthenia	Spontaneous, recurrent epistaxis, Purpura, Bruising susceptibility, Ecchymosis, Prolonged bleedin...	ORPHA:849
Hereditary Hemorrhagic Telangiectasia	Retinal telangiectasia, Subarachnoid hemorrhage, Pulmonary embolism, Transient ischemic attack, C...	ORPHA:774
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Hypertension	OMIM:166990
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Arterial Dissection-Lentiginosis Syndrome	Arteriovenous malformation, Arterial dissection	ORPHA:1682
Prothrombin Deficiency, Congenital	Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Gastrointestinal hemorrhage, M...	OMIM:613679
Congenital Factor Vii Deficiency	Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble...	ORPHA:327
Retinal Telangiectasia And Hypogammaglobulinemia	Retinal telangiectasia	OMIM:267900
Cryoglobulinemic Vasculitis	Abnormality of the liver, Petechiae, Abdominal pain, Purpura, Cutis marmorata, Viral hepatitis, H...	ORPHA:91138
Distal Trisomy 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Short stature	ORPHA:1705
Glanzmann Thrombasthenia 1	Purpura, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Subdural hemorr...	OMIM:273800
Mpi-Cdg	Hepatic fibrosis, Vomiting, Diarrhea, Protein-losing enteropathy, Gastrointestinal hemorrhage, He...	ORPHA:79319
Vein Of Galen Aneurysmal Malformation	Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:1053
Obesity Due To Sim1 Deficiency	Hypotension, Abnormal autonomic nervous system physiology, Hyperinsulinemia, Postural hypotension...	ORPHA:369873
Cutaneous Mastocytoma	Hypotension, Telangiectasia macularis eruptiva perstans, Darier's sign, Vomiting, Diarrhea, Derma...	ORPHA:79455
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Abnormal aortic arch morphology, Microcephaly, Overriding aorta, Intr...	ORPHA:1110
Neuroendocrine Tumor Of Stomach	Hypotension, Bloody diarrhea, Facial telangiectasia, Cardiogenic shock, Elevated hepatic transami...	ORPHA:100075
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal...	OMIM:614702
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal hemorrhage, Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Elevate...	OMIM:192315
Typhoid	Diarrhea, Cardiac arrest, Abdominal pain, Epistaxis, Arrhythmia, Constipation, Gastrointestinal h...	ORPHA:99745
Fetal And Neonatal Alloimmune Thrombocytopenia	Petechiae, Purpura, Intracranial hemorrhage, Abnormal bleeding, Ecchymosis, Cephalohematoma, Gast...	ORPHA:853
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Transaldolase Deficiency	Premature skin wrinkling, Cirrhosis, Telangiectasia, Hepatosplenomegaly	ORPHA:101028
Leber Hereditary Optic Neuropathy, Autosomal Recessive	Retinal telangiectasia	OMIM:619382
Cerebral Arteriovenous Malformation	Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:46724
Limited Cutaneous Systemic Sclerosis	Pulmonary arterial hypertension, Gastroesophageal reflux, Mucosal telangiectasiae, Nausea and vom...	ORPHA:220402
Cantu Syndrome	Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus...	OMIM:239850
Polycythemia Vera	Pulmonary embolism, Abdominal pain, Intermittent claudication, Angina pectoris, Bruising suscepti...	ORPHA:729
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hypertrophic cardiomyopathy, Telangiectasia, Hepatomegaly, Telangiectasia of the skin	ORPHA:79279
Congenital Factor Xi Deficiency	Abnormal bleeding, Epistaxis, Menorrhagia, Gastrointestinal hemorrhage, Prolonged bleeding after ...	ORPHA:329
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Cutis marmorata, Telangiectases producing 'marbled' skin	OMIM:206570
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ...	OMIM:615779
Left Ventricular Noncompaction 1	Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ...	OMIM:604169
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Hypertension	OMIM:189800
Pure Autonomic Failure	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Syncope, Abnormality of ci...	ORPHA:441
Capillary Malformation-Arteriovenous Malformation	Telangiectasia, Cerebral ischemia, Arteriovenous malformation, Cerebral arteriovenous malformatio...	ORPHA:137667
Reynolds Syndrome	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Mucosal telangiectasiae, ...	ORPHA:779
Blue Rubber Bleb Nevus	Arteriovenous malformation, Intestinal bleeding, Microcytic anemia	ORPHA:1059
Parkes Weber Syndrome	Vascular dilatation, Bounding pulse, Lower limb muscle weakness, Arteriovenous malformation, Cere...	ORPHA:90307
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Neonatal death, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cutaneous photosensitivity, Retinal telangiectasia, Telangiectasia of the skin	ORPHA:438134
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Abnormal neuron morphology, Ventriculomegaly	ORPHA:329228
Wyburn-Mason Syndrome	Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma...	ORPHA:53719
Pulmonary Arteriovenous Malformation	Cyanosis, Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Ischemic stroke,...	ORPHA:2038
Left Ventricular Noncompaction 7	Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction	OMIM:615092
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Type II diabetes mellitus, Myocardial infarction, Hypertension	OMIM:610947
Telangiectasia, Hereditary Hemorrhagic, Type 2	Cyanosis, Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous...	OMIM:600376
Carcinoid Syndrome	Episodic abdominal pain, Facial telangiectasia, Heart murmur, Nausea and vomiting, Hepatic necros...	ORPHA:100093
Familial Multiple Nevi Flammei	Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ar...	ORPHA:624
Aorto-Ventricular Tunnel	Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn...	ORPHA:3400
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Pulmonary insufficiency, Portal vein hypoplasia, Portal artery hyperp...	OMIM:619433
Congenital Pulmonary Veins Atresia Or Stenosis	Hypertension	ORPHA:3188
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Prolonged bleeding after surgery, Hemoperitoneum, Subcutaneous hemorrhage, Epidural hemorrhage, P...	ORPHA:465
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A	Hypotension, Abnormal autonomic nervous system physiology	OMIM:156310
Aortic Aneurysm, Familial Thoracic 4	Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce...	OMIM:132900
Mastocytosis	Hypotension, Diarrhea, Nausea and vomiting, Telangiectasia of the skin, Anorexia, Hepatomegaly, A...	ORPHA:98292
Lymphatic Malformation 8	Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge...	OMIM:618773
Tricuspid Atresia	Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept...	ORPHA:1209
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Hepatomegaly, Subcutaneous hemorrhage	ORPHA:1980
Combined Deficiency Of Factor V And Factor Viii	Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc...	ORPHA:35909
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Malignant Atrophic Papulosis	Gastrointestinal infarctions, Constrictive pericarditis, Gastrointestinal hemorrhage	OMIM:602248
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Esophageal varix, Portal hypertension, Splenomegaly	OMIM:617068
Craniofaciofrontodigital Syndrome	Patent ductus arteriosus, Polyhydramnios, Anomalous branches of internal carotid artery, Ventricu...	ORPHA:363705
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Von Willebrand Disease, Type 1	Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage...	OMIM:193400
Autoimmune Hepatitis	Spider hemangioma, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steato...	ORPHA:2137
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Arteriovenous malformation, Congestive heart failure, Venous insufficiency	ORPHA:137608
Severe Hemophilia A	Prolonged bleeding after surgery, Persistent bleeding after trauma, Epidural hemorrhage, Intracra...	ORPHA:169802
Adams-Oliver Syndrome	Pulmonary arterial hypertension, Leukopenia, Encephalocele, Arteriovenous malformation, Abnormal ...	ORPHA:974
Spinal Arteriovenous Metameric Syndrome	Arteriovenous malformation, Congestive heart failure, Spinal arteriovenous malformation	ORPHA:53721
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Hemophilia B	Persistent bleeding after trauma, Abnormal bleeding, Gastrointestinal hemorrhage, Joint hemorrhage	OMIM:306900
Hypoplastic Left Heart Syndrome 1	Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta	OMIM:241550
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cyanosis, Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, ...	OMIM:187300
Coproporphyria, Hereditary	Cutaneous photosensitivity, Splenomegaly, Vomiting, Diarrhea, Jaundice, Abdominal pain, Hypertens...	OMIM:121300
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncomp...	OMIM:612158
Moderate Hemophilia A	Subcutaneous hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Bleedin...	ORPHA:169805
Ganglioneuroma	Episodic abdominal pain, Colorectal polyposis, Multiple intestinal neurofibromatosis, Hypertensio...	ORPHA:251992
Polymyositis	Gastroesophageal reflux, Abnormal atrioventricular conduction, Abdominal pain, Congestive heart f...	ORPHA:732
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Petechiae, Hepatocellular carcinoma, Elevated hepatic ...	OMIM:619463
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Pericardial effusion, Transient isch...	OMIM:115197
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Stomach cancer, Vomiting, Enlarged polycystic ovaries, Abnormality of ...	ORPHA:2869
Ménétrier Disease	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ...	ORPHA:2494
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas	Arteriovenous fistula	OMIM:600419
Afibrinogenemia, Congenital	Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibilit...	OMIM:202400
Congenitally Uncorrected Transposition Of The Great Arteries	Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, Levotransp...	ORPHA:860
Polycythemia Vera	Cerebral ischemia, Cerebral hemorrhage, Gastrointestinal hemorrhage, Splenomegaly, Budd-Chiari sy...	OMIM:263300
Aorta Coarctation	Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru...	ORPHA:1457
Congenital Pulmonary Lymphangiectasia	Hydrops fetalis, Pulmonic stenosis, Chylopericardium, Pleural effusion, Growth delay, Hepatomegal...	ORPHA:2414
Hydrops Fetalis	Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab...	ORPHA:1041
Obesity Due To Melanocortin 4 Receptor Deficiency	Type II diabetes mellitus, Hyperinsulinemia, Hypertension	ORPHA:71529
Wild Type Abeta2M Amyloidosis	Congestive heart failure, Arrhythmia, Abnormal intestine morphology, Gastrointestinal hemorrhage,...	ORPHA:85446
Systemic Primary Carnitine Deficiency	Vomiting, Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Gastrointestinal Stromal Tumor	Neoplasm of the stomach, Abnormality of the liver, Neoplasm of the gastrointestinal tract, Nausea...	ORPHA:44890
Riboflavin Transporter Deficiency	Diabetes insipidus, Hypogonadism, Abnormal autonomic nervous system physiology, Hypertension, Abn...	ORPHA:97229
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Vomiting, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splen...	OMIM:614480
Acquired Von Willebrand Syndrome	Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Intracranial hemorrhage, ...	ORPHA:99147
Lymphatic Malformation 7	Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec...	OMIM:617300
Periodic Fever, Familial, Autosomal Dominant	Vomiting, Chronic constipation, Abdominal pain, Gastrointestinal hemorrhage, Chronic diarrhea, He...	OMIM:142680
Bernard-Soulier Syndrome	Petechiae, Spontaneous, recurrent epistaxis, Abnormal bleeding, Bruising susceptibility, Gingival...	ORPHA:274
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Transient ischemic attack, Lacunar stroke, Hypertension	OMIM:616779
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Aggressive Systemic Mastocytosis	Hypotension, Diarrhea, Malabsorption, Hypersplenism, Abdominal pain, Abdominal cramps, Hepatosple...	ORPHA:98850
Transaldolase Deficiency	Hepatic fibrosis, Cirrhosis, Telangiectasia, Poor suck, Hepatosplenomegaly, Micronodular cirrhosi...	OMIM:606003
Idiopathic/Heritable Pulmonary Arterial Hypertension	Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita...	ORPHA:422
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial...	OMIM:601493
Congenital Tricuspid Valve Dysplasia	Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho...	ORPHA:555874
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Retinal hemorrhage, Bloody diarrhea, Vitreous hemorrhage, Abnormality of the liver, Morphological...	ORPHA:464321
Primary Hepatic Neuroendocrine Carcinoma	Intermittent jaundice, Episodic abdominal pain, Facial telangiectasia, Diarrhea, Heart murmur, Ne...	ORPHA:100085
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Arteriovenous malformation, Telangiectasia of the skin, Cerebral ischemia, Arrhythmia	ORPHA:60040
Polycystic Kidney Disease 7	Hypertension	OMIM:620056
Bronchial Neuroendocrine Tumor	Hypotension, Hepatic failure, Facial telangiectasia, Poor appetite, Cardiogenic shock, Dermatolog...	ORPHA:97287
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Congestive heart failure, Hypertension, Myocardial infarction	OMIM:615703
Dural Sinus Malformation	Cerebellar hemorrhage, Hypoplasia of the frontal lobes, Cerebral edema, Vascular dilatation, Cere...	ORPHA:97339
Preeclampsia	Elevated systolic blood pressure, Elevated hepatic transaminase, Hypertension, Type I diabetes me...	ORPHA:275555
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Livedo, Telangiectases of the cheeks	OMIM:615139
Ataxia-Telangiectasia	Mucosal telangiectasiae, Premature graying of hair, Elevated hepatic transaminase, Telangiectasia...	ORPHA:100
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Diarrhea...	OMIM:613812
Hemochromatosis, Type 2B	Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Congestive heart failure, Hepatomegal...	OMIM:613313
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Polyhydramnios, Limb hypertonia, Short stature, Pericardial effusion, Aortic aneurysm, Atrial sep...	OMIM:620070
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Atrial Septal Defect 4	Patent foramen ovale, Atrial septal defect, Coarctation of aorta	OMIM:611363
Tempi Syndrome	Facial erythema, Ascites, Telangiectasia, Intracranial hemorrhage	ORPHA:284227
Meckel Syndrome, Type 8	Pericardial effusion, Enlarged kidney, Occipital encephalocele, Encephalocele	OMIM:613885
Phakomatosis Pigmentovascularis	Arteriovenous malformation, Cerebral cortical atrophy, Cerebral calcification	ORPHA:2875
Congenital Disorder Of Glycosylation, Type Il	Abnormal cardiac septum morphology, Pericardial effusion, Hepatosplenomegaly, Edema, Hepatomegaly...	OMIM:608776
Congenital Disorder Of Glycosylation, Type Ie	Telangiectasia, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:608799
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Hyperaldosteronism, Familial, Type Iv	Hyperaldosteronism, Hypertension	OMIM:617027
Plin1-Related Familial Partial Lipodystrophy	Abnormal circulating hormone concentration, Hyperinsulinemia, Hypertension, Insulin-resistant dia...	ORPHA:280356
Pelizaeus-Merzbacher Disease	Arteriovenous malformation, Cerebral cortical atrophy, Microcephaly, Short stature	ORPHA:702
Wild Type Attr Amyloidosis	Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Abnormal autonomic nervous sy...	ORPHA:330001
Microscopic Polyangiitis	Diarrhea, Subcutaneous hemorrhage, Nausea and vomiting, Abdominal pain, Congestive heart failure,...	ORPHA:727
Ppoma	Intermittent jaundice, Diarrhea, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, ...	ORPHA:97278
Autosomal Dominant Coarctation Of Aorta	Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m...	ORPHA:1455
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension	ORPHA:2820
Propionic Acidemia	Cardiomyopathy, Constipation, Hepatomegaly, Arrhythmia	ORPHA:35
Hereditary Amyloidosis With Primary Renal Involvement	Gastroesophageal reflux, Intestinal perforation, Vomiting, Diarrhea, Petechiae, Abnormality of th...	ORPHA:85450
Familial Partial Lipodystrophy, Köbberling Type	Diabetes mellitus, Hyperinsulinemia, Hypertension	ORPHA:79084
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly	OMIM:610293
Leber Hereditary Optic Neuropathy	Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Peroxisome Biogenesis Disorder 8A (Zellweger)	Feeding difficulties in infancy, Jaundice, Elevated circulating aspartate aminotransferase concen...	OMIM:614876
Xeroderma Pigmentosum Variant	Cutaneous photosensitivity, Telangiectasia	ORPHA:90342
Ebola Hemorrhagic Fever	Vomiting, Diarrhea, Poor appetite, Hepatitis, Abdominal pain, Abnormal bleeding, Acute pancreatit...	ORPHA:319218
Tyrosinemia Type 1	Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly	ORPHA:882
Galactose Epimerase Deficiency	Nausea and vomiting, Jaundice, Hepatomegaly, Feeding difficulties, Splenomegaly	ORPHA:79238
Maternally-Inherited Diabetes And Deafness	Type II diabetes mellitus, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, A...	ORPHA:225
Cholestasis, Progressive Familial Intrahepatic, 9	Diarrhea, Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obl...	OMIM:619849
Bleeding Disorder, Platelet-Type, 17	Petechiae, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged bleeding ...	OMIM:187900
Waldenström Macroglobulinemia	Retinal hemorrhage, Diarrhea, Malabsorption, Vasculitis, Purpura, Congestive heart failure, Cutis...	ORPHA:33226
Bleeding Disorder, Platelet-Type, 12	Bruising susceptibility, Epistaxis, Intestinal bleeding, Menorrhagia, Joint hemorrhage	OMIM:605735
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:616501
Romano-Ward Syndrome	Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Abnormal auton...	ORPHA:101016
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Hepat...	OMIM:615381
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Pulmonary Hypertension, Primary, 1	Pulmonary arterial hypertension, Telangiectasia, Hypertension, Increased pulmonary vascular resis...	OMIM:178600
Pituitary Adenoma 1, Multiple Types	Increased circulating prolactin concentration, Pituitary adenoma, Prolactinoma, Hypertension, Inc...	OMIM:102200
Acrogeria	Excessive wrinkled skin, Prematurely aged appearance, Telangiectasia of the skin	ORPHA:2500
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly	OMIM:607685
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Cutaneous photosensitivity, Telangiectasia, Esophageal stricture, Fragile skin, Erythema	ORPHA:158673
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nodular regenerative hyperplasia of liver, Telangiectasia, Punctate vasculitis skin lesions, Rayn...	ORPHA:247691
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Fulminant hepatitis, Poor appetite, Jaundice, Elevated hepatic transaminase, Gin...	OMIM:618549
Attrv30M Amyloidosis	Cardiomyopathy, Abnormal autonomic nervous system physiology, Atrioventricular block, Arrhythmia	ORPHA:85447
Sandhoff Disease	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:796
Malignant Atrophic Papulosis	Intestinal fistula, Intestinal perforation, Ischemic stroke, Nausea and vomiting, Abdominal pain,...	ORPHA:679
Familial Cervical Artery Dissection	Cerebral ischemia, Transient ischemic attack, Facial palsy, Hypertension, Diabetes mellitus, Suba...	ORPHA:36382
Melorheostosis	Skeletal muscle atrophy, Peripheral arteriovenous fistula	ORPHA:2485
Paragangliomas 3	Glomus jugular tumor, Hypertension associated with pheochromocytoma, Elevated circulating catecho...	OMIM:605373
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	ORPHA:228190
Telangiectasia, Hereditary Hemorrhagic, Type 4	Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Palate tel...	OMIM:610655
Attrv122I Amyloidosis	Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abnormal au...	ORPHA:85451
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level, Hypertension, Adre...	OMIM:103900
Desmoid Tumor	Malabsorption, Abdominal pain, Intestinal polyposis, Intestinal obstruction, Gastrointestinal hem...	ORPHA:873
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertension, Diabetes mellitus, Abnorm...	OMIM:540000
Reynolds Syndrome	Biliary cirrhosis, Jaundice, Raynaud phenomenon, Elevated hepatic transaminase, Steatorrhea, Chol...	OMIM:613471
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615396
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Telangiectasia, Gastrointestinal carcinoma, Epistaxis, Juveni...	OMIM:175050
Scleroderma, Familial Progressive	Telangiectasia, Abnormal abdomen morphology	OMIM:181750
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Necrobiosis Lipoidica	Fragile skin, Erythema, Telangiectasia of the skin	ORPHA:542592
Foix-Alajouanine Syndrome	Lower limb muscle weakness, Distal lower limb amyotrophy, Arteriovenous fistula, Venous malformat...	ORPHA:79093
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Hemochromatosis, Type 2A	Cirrhosis, Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly, Arrhythmia, Splenomega...	OMIM:602390
Hyperaldosteronism, Familial, Type Ii	Hyperaldosteronism, Hypertension	OMIM:605635
Prolidase Deficiency	Petechiae, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Prolonged...	OMIM:170100
Al Amyloidosis	Abnormality of the liver, Dysphagia, Reduced left ventricular ejection fraction, Abnormal EKG, Ab...	ORPHA:85443
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertrophic car...	OMIM:620135
Immunodeficiency 104	Diarrhea, Gastroesophageal reflux, Splenomegaly, Hepatomegaly	OMIM:608971
Partington Syndrome	Facial telangiectasia	ORPHA:94083
Truncus Arteriosus	Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted aortic arch...	ORPHA:3384
Cholesteryl Ester Storage Disease	Hepatic failure, Cirrhosis, Diarrhea, Nausea and vomiting, Jaundice, Hepatomegaly, Esophageal var...	ORPHA:75234
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Fixed Subaortic Stenosis	Patent ductus arteriosus, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Bacter...	ORPHA:3092
Glutaric Aciduria Iii	Reduced peroxisomal glutaryl-CoA oxidase activity, Hyperthyroidism, Hypertension, Goiter	OMIM:231690
Bannayan-Riley-Ruvalcaba Syndrome	Short stature, Arteriovenous malformation, Macrocephaly, Aortic aneurysm, Intracranial hemorrhage...	ORPHA:109
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Abdominal pain, Neoplasm of the rectum, Intestinal bleeding, Anal canal sq...	ORPHA:424019
Cutis Marmorata Telangiectatica Congenita	Patent ductus arteriosus, Telangiectasia of the skin, Arteriovenous malformation, Arterial stenosis	ORPHA:1556
Ataxia-Oculomotor Apraxia Type 4	Telangiectasia	ORPHA:459033
Hypocomplementemic Urticarial Vasculitis	Angioedema, Small vessel vasculitis, Pericardial effusion, Abnormal heart valve morphology, Pleur...	ORPHA:36412
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly	ORPHA:46532
Lessel-Kubisch Syndrome	Hypertension, Hypogonadism	OMIM:618681
Somatostatinoma	Intermittent jaundice, Episodic abdominal pain, Extrahepatic cholestasis, Diarrhea, Poor appetite...	ORPHA:97283
Familial Atrial Myxoma	Pedal edema, Bacterial endocarditis, Vascular dilatation, Pulmonic valve myxoma, Cardiac myxoma, ...	ORPHA:615
Wolfram Syndrome, Mitochondrial Form	Diabetes insipidus, Abnormal autonomic nervous system physiology, Diabetes mellitus, Optic atrophy	OMIM:598500
Neuraminidase Deficiency	Hydrops fetalis, Short stature, Skeletal muscle atrophy, Bone-marrow foam cells, Hepatomegaly, Ca...	OMIM:256550
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Diarrhea, Malabsorption, Jaundice, Elevated hepatic transaminase, Portal inflammation,...	OMIM:602347
Persistent Idiopathic Facial Pain	Abnormal autonomic nervous system physiology	ORPHA:398147
Paragangliomas 1	Glomus jugular tumor, Hypertension associated with pheochromocytoma, Elevated circulating catecho...	OMIM:168000
Grfoma	Intermittent jaundice, Diarrhea, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, ...	ORPHA:97261
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:617228
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Livedo, Telangiectasia, Facial telangiectasia	OMIM:614564
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left sup...	OMIM:618775
Multiple System Atrophy	Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog...	ORPHA:102
Congenital Sialidosis Type 2	Telangiectasia, Petechiae, Abnormal EKG, Hepatosplenomegaly, Hepatomegaly, Ascites	ORPHA:93400
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia	ORPHA:230839
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Mucopolysaccharidosis Type 7	Arteriovenous malformation, Splenomegaly, Umbilical hernia	ORPHA:584
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet...	OMIM:618654
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Currarino Syndrome	Arteriovenous malformation	ORPHA:1552
Cholestasis-Lymphedema Syndrome	Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver dis...	OMIM:214900
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Gastric adenocarcinoma, Abdominal pain, Fundic gland polyposis, Melena	OMIM:619182
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormal aortic morphology, Ventricular septal defect, Short stature, Abnormality of the pulmonar...	ORPHA:1166
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level	OMIM:605115
Juvenile Dermatomyositis	Cutaneous photosensitivity, Dysphagia, Mucosal telangiectasiae, Bundle branch block, Telangiectas...	ORPHA:93672
Glucocorticoid Resistance, Generalized	Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A...	OMIM:615962
Trimethylaminuria	Tachycardia, Hypertension	OMIM:602079
Galactosemia Iii	Jaundice, Vomiting, Splenomegaly, Hepatomegaly	OMIM:230350
Timothy Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Tetralog...	OMIM:601005
Conotruncal Heart Malformations	Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula...	OMIM:217095
Cholestasis, Progressive Familial Intrahepatic, 12	Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar...	OMIM:620010
Autoimmune Lymphoproliferative Syndrome, Type Iia	Petechiae, Gastrointestinal hemorrhage, Hepatomegaly, Urticaria, Splenomegaly, Vasculitis	OMIM:603909
Bile Acid Synthesis Defect, Congenital, 5	Hepatic failure, Hepatic fibrosis, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa...	OMIM:616278
Lig4 Syndrome	Cutaneous photosensitivity, Malabsorption, Telangiectasia of the skin, Erythema, Hepatomegaly	ORPHA:99812
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Cardiac-Urogenital Syndrome	Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar...	OMIM:618280
Congenital Heart Defects, Multiple Types, 6	Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a...	OMIM:613854
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:615158
Bile Acid Synthesis Defect, Congenital, 4	Hepatic failure, Fat malabsorption, Elevated hepatic transaminase, Elevated circulating aspartate...	OMIM:214950
Alpha-1-Antitrypsin Deficiency	Hepatitis, Jaundice, Hepatic failure, Hepatomegaly	ORPHA:60
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal aortic morphology, Intrauterine growth retardation, Truncus arteriosus, Ventricular sept...	ORPHA:2516
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615373
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatic failure, Jaundice, Elevated hepatic transaminase, Abdominal distention, Cholestasis, Hepa...	OMIM:618528
Diffuse Cutaneous Systemic Sclerosis	Pulmonary arterial hypertension, Gastroesophageal reflux, Nausea and vomiting, Malabsorption, Tel...	ORPHA:220393
Tyrosinemia, Type I	Cirrhosis, Hepatic failure, Enlarged kidney, Paralytic ileus, Elevated hepatic transaminase, Hepa...	OMIM:276700
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ventricular septal defect, Joint contracture of the hand, Lymphedema, Pericardial effusion, Thyro...	OMIM:235510
Mixed Connective Tissue Disease	Pulmonary arterial hypertension, Gastroesophageal reflux, Purpura, Pericarditis, Gastritis, Xeros...	ORPHA:809
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	OMIM:604381
Schöpf-Schulz-Passarge Syndrome	Ectodermal dysplasia, Facial telangiectasia	ORPHA:50944
Primary Sclerosing Cholangitis	Spider hemangioma, Cholangiocarcinoma, Elevated hepatic transaminase, Hepatocellular carcinoma, C...	ORPHA:171
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Abnormal autonomic nervous system physiology, Aganglionic megacolon, Hypertension	OMIM:613870
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Ventricular septal defect, Abnormal ...	ORPHA:3405
Glucagonoma	Intermittent jaundice, Diarrhea, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, ...	ORPHA:97280
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Ramon Syndrome	Telangiectasia of the skin	ORPHA:3019
Congenital Disorder Of Glycosylation, Type Iir	Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,...	OMIM:301045
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia...	OMIM:618780
Nail-Patella-Like Renal Disease	Hypertension	ORPHA:2613
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Neonatal death, Cardiomegaly, Increased variability in muscle fiber ...	OMIM:614096
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Flexion contracture, Short stature, Abnormal mitochondria in muscle tissue, Dilated cardiomyopath...	OMIM:252011
Hepatic Veno-Occlusive Disease	Abdominal pain, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites	ORPHA:890
Cardiac Diverticulum	Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu...	ORPHA:1686
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level, Hypertension	OMIM:615238
Gaucher Disease Type 2	Cardiac arrest, Splenomegaly, Hepatomegaly, Dysphagia	ORPHA:77260
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Systemic Sclerosis	Pulmonary arterial hypertension, Gastroesophageal reflux, Gastrointestinal telangiectasia, Telang...	ORPHA:90291
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating alanine aminotransferase concentration, Feeding difficulties in infancy, Lef...	OMIM:619048
Multiple System Atrophy, Parkinsonian Type	Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog...	ORPHA:98933
Whipple Disease	Hypotension, Diarrhea, Malabsorption, Abdominal pain, Pericarditis, Myocardial infarction, Anorex...	ORPHA:3452
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Methimazole Embryofetopathy	Polyhydramnios, Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Intr...	ORPHA:1923
Hemoglobin H Disease	Splenomegaly, Hepatomegaly	OMIM:613978
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Hypertension, Arrhythmia	OMIM:617021
Cardiomyopathy, Familial Restrictive, 1	Sudden cardiac death, Restrictive cardiomyopathy, Ventriculomegaly	OMIM:115210
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge...	OMIM:619313
Multiple Endocrine Neoplasia, Type Iia	Parathyroid adenoma, Increased circulating cortisol level, Aganglionic megacolon, Hypertension, P...	OMIM:171400
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr...	ORPHA:369
Vascular Hyalinosis	Diarrhea, Premature graying of hair, Malabsorption, Protein-losing enteropathy, Subarachnoid hemo...	OMIM:277175
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Pericardial effusion, Enlarged kidney, Macroglossia, Pleural effusion, Hypertrop...	OMIM:261740
Progressive Familial Intrahepatic Cholestasis	Malabsorption, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly	ORPHA:172
Amyloidosis, Familial Visceral	Hypertension, Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Fanconi Anemia	Patent ductus arteriosus, Leukopenia, Abnormal aortic morphology, Anemia, Abnormal cardiac septum...	ORPHA:84
Arterial Calcification, Generalized, Of Infancy, 1	Carotid artery calcification, Cardiomegaly, Short stature, Abdominal aortic calcification, Dilate...	OMIM:208000
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Abdominal pain, Raynaud phenomenon, Purpura, Congestiv...	ORPHA:91139
Primary Intestinal Lymphangiectasia	Pericardial effusion, Pleural effusion, Edema, Intestinal lymphangiectasia, Growth delay, Ascites...	ORPHA:90362
Immunodeficiency 48	Diarrhea, Splenomegaly, Hepatomegaly	OMIM:269840
Cutis Marmorata Telangiectatica Congenita	Cutis marmorata, Telangiectasia, Hypertension	OMIM:219250
Glycogen Storage Disease Vi	Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly	OMIM:232700
16P13.11 Microduplication Syndrome	Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans...	ORPHA:261243
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Abdominal pain, Hematochezia, Diarrhea	OMIM:191390
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology	OMIM:615548
Coronary Arterial Fistula	Patent ductus arteriosus, Patent foramen ovale, Pedal edema, Bacterial endocarditis, Vascular dil...	ORPHA:2041
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Cardiomegaly, Ischemic...	ORPHA:91387
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Vomiting, Hepatic necrosis, Abdominal pain, Portal vein thrombosis, Hepatomegaly	ORPHA:33402
Neutral Lipid Storage Disease With Myopathy	Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Cardiomyopathy	OMIM:610717
Angioosteohypotrophic Syndrome	Prominent superficial veins, Telangiectasia of the skin	ORPHA:75508
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly	OMIM:606445
Cyanosis, Transient Neonatal	Cyanosis, Jaundice, Hepatomegaly	OMIM:613977
Potocki-Shaffer Syndrome	Hypothyroidism, Delayed puberty, Hypertension	ORPHA:52022
Pseudoxanthoma Elasticum	Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Intermittent claudication, Angin...	OMIM:264800
Mitchell Syndrome	Abnormal autonomic nervous system physiology	OMIM:618960
Neurooculocardiogenitourinary Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ...	OMIM:618652
Partial Atrioventricular Septal Defect	Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B...	ORPHA:1330
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left...	ORPHA:2248
Glomerulopathy With Fibronectin Deposits 2	Hypertension	OMIM:601894
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Cutaneous photosensitivity, Telangiectasia, Dysphagia	OMIM:615919
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomega...	OMIM:618234
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Splenomegaly, Hepatomegaly	OMIM:619462
Bile Acid Conjugation Defect 1	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ...	OMIM:619232
Anonychia With Flexural Pigmentation	Macular telangiectasia	ORPHA:69125
Bonnemann-Meinecke-Reich Syndrome	Decreased response to growth hormone stimulation test, Ventriculomegaly	ORPHA:1261
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Adrenocortical Carcinoma	Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Adrenocortic...	ORPHA:1501
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Splenomegaly, Diarrhea, Fat malabsorption, Jaundice, Epistaxis, Hepatomegaly, Intrahep...	OMIM:211600
Classic Homocystinuria	Pulmonary embolism, Cerebral ischemia, Subcutaneous hemorrhage, Elevated hepatic transaminase, In...	ORPHA:394
Carney-Stratakis Syndrome	Abdominal pain, Intestinal obstruction, Gastrointestinal hemorrhage, Dysphagia, Gastrointestinal ...	ORPHA:97286
Familial Hyperaldosteronism Type Ii	Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Abnormal circulating renin, ...	ORPHA:404
Congenital Enterovirus Infection	Polyhydramnios, Hydrops fetalis, Pericardial effusion, Pleural effusion, Fetal ascites, Myocardit...	ORPHA:292
Scimitar Syndrome	Truncus arteriosus, Hypoplasia of the diaphragm, Abnormal vena cava morphology, Abnormal hemidiap...	ORPHA:185
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Oligohydramnios, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy	OMIM:617713
Tetanus	Abnormal autonomic nervous system physiology, Hypertension, Autonomic bladder dysfunction, Bradyc...	ORPHA:3299
Mulibrey Nanism	Hydrops fetalis, Pericardial constriction, Short stature, Myocardial fibrosis, Growth delay, Hepa...	OMIM:253250
Fish-Eye Disease	Splenomegaly, Angina pectoris, Hepatomegaly	ORPHA:79292
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT...	OMIM:615954
Coach Syndrome 2	Hydrocephalus, Elevated hepatic transaminase, Hypertension	OMIM:619111
Hyperzincemia With Functional Zinc Depletion	Diarrhea, Hepatomegaly, Vasculitis	OMIM:601979
Renal Failure, Progressive, With Hypertension	Hypertension	OMIM:161900
Heterotaxy, Visceral, 12, Autosomal	Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven...	OMIM:619702
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection	OMIM:613780
Aortic Aneurysm, Familial Thoracic 9	Aortic tortuosity, Mitral valve prolapse, Ascending aortic dissection, Thoracic aortic aneurysm	OMIM:616166
Intellectual Developmental Disorder, Autosomal Dominant 21	Patent ductus arteriosus, Short stature, Atrial septal defect, Coarctation of aorta	OMIM:615502
Sclerosing Cholangitis, Neonatal	Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ...	OMIM:617394
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Vomiting, Elevated hepatic transaminase, Dilated cardiomyopathy, Ventricular tachycardia, Hepatom...	OMIM:600649
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Iga Nephropathy, Susceptibility To, 3	Hypertension	OMIM:616818
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Bicuspid aortic valve, Abn...	ORPHA:1120
Multiple System Atrophy, Cerebellar Type	Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog...	ORPHA:227510
Gaucher Disease Type 1	Pedal edema, Pericardial effusion, Delayed puberty, Growth delay, Hepatomegaly, Ascites, Splenome...	ORPHA:77259
Cholestasis, Progressive Familial Intrahepatic, 10	Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Elevated c...	OMIM:619868
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology	OMIM:617935
Iga Nephropathy, Susceptibility To, 2	Hypertension	OMIM:613944
Hyperbilirubinemia, Shunt, Primary	Jaundice, Splenomegaly, Hepatomegaly	OMIM:237800
Solitary Rectal Ulcer Syndrome	Episodic abdominal pain, Bloody diarrhea, Intermittent diarrhea, Rectal prolapse, Stercoral ulcer...	ORPHA:209964
Fabry Disease	Transient ischemic attack, Abnormal autonomic nervous system physiology, Congestive heart failure...	OMIM:301500
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart	ORPHA:2001
Duodenal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Elevated hepatic transaminase, Palpitations, Hematemesis, Gastroi...	ORPHA:100076
Pseudoxanthoma Elasticum	Sudden cardiac death, Retinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Bruising s...	ORPHA:758
Cap Polyposis	Atrophic gastritis, Colorectal polyposis, Diarrhea, Abdominal pain, Abdominal distention, Constip...	ORPHA:160148
Peripartum Cardiomyopathy	Pulmonary arterial hypertension, Abnormal T-wave, Abnormality of thyroid physiology, Heart murmur...	ORPHA:563
X-Linked Hypohidrotic Ectodermal Dysplasia	Anterior hypopituitarism, Hypertension, Type I diabetes mellitus	ORPHA:181
Enterocolitis	Enterocolitis, Hematochezia, Ulcerative colitis, Abdominal distention	OMIM:226150
Autoerythrocyte Sensitization Syndrome	Vomiting, Diarrhea, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Oral...	ORPHA:324636
Caroli Syndrome	Cholangiocarcinoma, Elevated hepatic transaminase, Hepatomegaly, Hematemesis, Abnormality of the ...	ORPHA:480520
Hemochromatosis, Type 4	Cirrhosis, Hepatic steatosis, Hepatomegaly, Arrhythmia, Cardiomyopathy	OMIM:606069
Congenital Toxoplasmosis	Cardiomegaly, Ascites, Intrauterine growth retardation, Hepatomegaly	ORPHA:858
Triokinase And Fmn Cyclase Deficiency Syndrome	Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Hepatic stea...	OMIM:618805
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Abnormal car...	ORPHA:251071
Methanol Poisoning	Permanent atrial fibrillation, Cerebral hemorrhage, Type II diabetes mellitus, Type I diabetes me...	ORPHA:31825
Glomerulopathy With Fibronectin Deposits 1	Hypertension	OMIM:137950
Focal Segmental Glomerulosclerosis 5	Hypertension	OMIM:613237
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Indolent Systemic Mastocytosis	Darier's sign, Splenomegaly, Abdominal cramps, Flushing, Hepatomegaly, Generalized abnormality of...	ORPHA:98848
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology	ORPHA:101046
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Aortic Aneurysm, Familial Thoracic 6	Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur...	OMIM:611788
Focal Segmental Glomerulosclerosis 2	Hypertension	OMIM:603965
Lig4 Syndrome	Cutaneous photosensitivity, Telangiectasia	OMIM:606593
Familial Hyperaldosteronism Type I	Hypertension, Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, ...	ORPHA:403
Juvenile Polyposis Syndrome	Juvenile colonic polyposis, Hepatic arteriovenous malformation, Diarrhea, Neoplasm of the gastroi...	ORPHA:2929
Phosphoribosylpyrophosphate Synthetase Superactivity	Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Lipodystrophy, Familial Partial, Type 1	Hypertension, Prominent superficial veins, Acute pancreatitis, Hepatomegaly, Increased subcutaneo...	OMIM:608600
Congenital Disorder Of Glycosylation, Type Iio	Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Chol...	OMIM:616828
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hypertension	OMIM:607832
Lipodystrophy, Familial Partial, Type 4	Hypertension, Insulin-resistant diabetes mellitus	OMIM:613877
Aicardi-Goutieres Syndrome 9	Pericardial effusion, Left ventricular hypertrophy, Hepatosplenomegaly, Pericarditis, Edema, Hepa...	OMIM:619487
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cardiac arrest, Abnormal autonomic nervous system physiology, Arrhythmia	ORPHA:168593
Pseudohypoaldosteronism, Type Iia	Pseudohypoaldosteronism, Hypertension	OMIM:145260
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Abdominal pain, Biliary t...	ORPHA:234
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating aldosterone level, Optic atrophy, Adrenal insufficiency, Abnormal autonomic...	OMIM:231550
Immunoglobulin A Vasculitis	Nausea and vomiting, Vasculitis, Abdominal pain, Purpura, Bruising susceptibility, Anorexia, Eryt...	ORPHA:761
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis	ORPHA:231111
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Arteria...	ORPHA:99050
Adiposis Dolorosa	Diarrhea, Bruising susceptibility, Xerostomia, Constipation, Telangiectasia of the skin	ORPHA:36397
Cardiomyopathy, Familial Hypertrophic, 27	Concentric hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Ventricular septal hypertrophy...	OMIM:618052
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Beta-Propeller Protein-Associated Neurodegeneration	Abnormal autonomic nervous system physiology, Optic atrophy	ORPHA:329284
Heterotaxy, Visceral, 8, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec...	OMIM:617205
Glomuvenous Malformation	Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Venous malformation	ORPHA:83454
African Iron Overload	Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Congestive heart failure, Hepatic bridging...	ORPHA:139507
Carney Triad	Diarrhea, Nausea and vomiting, Abdominal pain, Hypertension, Anorexia, Gastrointestinal hemorrhag...	ORPHA:139411
Aortic Valve Disease 2	Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Calcification of the aorta, Aorti...	OMIM:614823
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d...	OMIM:610489
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Cirrhosis, Diarrhea, Fat malabsorption, Hepatocellular carcinoma, Intrahep...	OMIM:601847
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypothyroidism, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, Hypopituitarism...	ORPHA:90065
Leukocyte Adhesion Deficiency, Type Iii	Petechiae, Abnormal bleeding, Hepatosplenomegaly, Epistaxis, Hepatomegaly, Splenomegaly	OMIM:612840
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri...	OMIM:610338
Biliary Atresia, Extrahepatic	Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Jaundice, Elevated hepatic tra...	OMIM:210500
Bile Acid Synthesis Defect, Congenital, 1	Hepatic failure, Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Elevated hepatic transaminase,...	OMIM:607765
Meacham Syndrome	Aplasia of the left hemidiaphragm, Ventricular septal defect, Enlarged kidney, Atrial septal defe...	OMIM:608978
Galactose Mutarotase Deficiency	Decreased liver function, Cholestasis, Hepatomegaly	ORPHA:570422
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Cirrhosis, Left ventricular diastolic dysfunction, Third hear...	ORPHA:57777
Hennekam Syndrome	Camptodactyly of finger, Delayed eruption of teeth, Arteriovenous malformation, Pericardial effus...	ORPHA:2136
Porphyria Variegata	Abnormal autonomic nervous system physiology, Elevated hepatic transaminase, Hypertension, Abnorm...	ORPHA:79473
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hypertension, Type I diabetes mellitus	ORPHA:1192
Juvenile Idiopathic Arthritis	Pericardial effusion, Joint swelling, Splenomegaly, Hepatomegaly	ORPHA:92
Alpha-Heavy Chain Disease	Malabsorption, Abdominal pain, Hepatomegaly, Abnormal small intestine morphology, Ascites, Spleno...	ORPHA:100025
Inflammatory Bowel Disease 28, Autosomal Recessive	Crohn's disease, Enterocolitis, Perianal abscess, Colitis, Hematochezia	OMIM:613148
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion, Splenomegaly, Hepatomegaly	OMIM:613011
Corticosteroid-Binding Globulin Deficiency	Hypotension, Decreased circulating cortisol level, Hypertension	OMIM:611489
Cardiomyopathy, Dilated, 1A	Pericardial effusion, Dilated cardiomyopathy	OMIM:115200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Esophageal varix, Hyper...	OMIM:263200
Holt-Oram Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ...	ORPHA:392
Blue Rubber Bleb Nevus	Abnormality of the liver, Intussusception, Volvulus, Intestinal bleeding, Rectal prolapse	OMIM:112200
Sting-Associated Vasculopathy, Infantile-Onset	Telangiectasia, Raynaud phenomenon, Cutis marmorata, Livedo reticularis, Erythema	OMIM:615934
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly	OMIM:616719
Antisynthetase Syndrome	Pulmonary arterial hypertension, Telangiectasia of the skin, Aortic regurgitation, Xerostomia, Dy...	ORPHA:81
Q Fever	Endocarditis, Splenomegaly, Pericardial effusion, Hepatosplenomegaly, Pericarditis, Pleural effus...	ORPHA:781
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Pericardial effusion, Dilated cardiomyopathy, Abnormal myocardium morphology, Muscular dystrophy	ORPHA:300751
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension	ORPHA:401945
Alagille Syndrome	Hypertension, Reduced number of intrahepatic bile ducts, Cholestasis, Hepatomegaly, Telangiectasi...	ORPHA:52
Aortic Valve Disease 3	Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascending aortic dissection, A...	OMIM:618496
Classical-Like Ehlers-Danlos Syndrome Type 2	Aortic root aneurysm, Carotid artery stenosis, Pericardial effusion, Mitral valve prolapse, Varic...	ORPHA:536532
Mitochondrial Complex I Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Ventriculomegaly, Optic atrophy	OMIM:618228
Zollinger-Ellison Syndrome	Peptic ulcer, Extrahepatic cholestasis, Episodic abdominal pain, Diarrhea, Duodenal ulcer, Jaundi...	ORPHA:913
Pediatric-Onset Graves Disease	Sinus tachycardia, Increased circulating T4 concentration, Jaundice, Thyrotoxicosis with diffuse ...	ORPHA:525731
Developmental Delay, Language Impairment, And Ocular Abnormalities	Facial telangiectasia, Pulmonic stenosis	OMIM:620141
Autosomal Recessive Polycystic Kidney Disease	Fat malabsorption, Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Protein-losing enterop...	ORPHA:731
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatic cysts, Hepatomegaly	OMIM:617004
Bile Acid Synthesis Defect, Congenital, 2	Hepatic failure, Diarrhea, Jaundice, Elevated hepatic transaminase, Steatorrhea, Intrahepatic cho...	OMIM:235555
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Abnormal T-wave, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cor...	ORPHA:231625
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenal hyperplasia, Abnorma...	ORPHA:251274
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros...	OMIM:619662
Absence Of The Pulmonary Artery	Patent ductus arteriosus, Patent foramen ovale, Pedal edema, Cardiomegaly, Truncus arteriosus, Ab...	ORPHA:980
Lynch Syndrome	Pancreatic adenocarcinoma, Nausea and vomiting, Malabsorption, Abdominal pain, Neoplasm of the pa...	ORPHA:144
Aortic Aneurysm, Familial Thoracic 8	Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort...	OMIM:615436
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenogenital syndrome, Hypertension, Adrenal hyperplasia	OMIM:201910
Diabetic Embryopathy	Abnormal aortic morphology, Spinal dysraphism, Aplasia/Hypoplasia of the abdominal wall musculatu...	ORPHA:1926
Pleural Mesothelioma	Abnormal cardiovascular system physiology, Hepatomegaly, Dysphagia	ORPHA:50251
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated hepatic transaminase, Hepatomegaly, Cardiomyopathy	OMIM:232400
Liddle Syndrome	Hypertension, Cerebral ischemia, Arrhythmia	ORPHA:526
Cystic Hamartoma Of Lung And Kidney	Hypertension	ORPHA:2111
Superficial Siderosis	Abnormal vertebral artery morphology, Lower limb muscle weakness, Arteriovenous malformation, Int...	ORPHA:247245
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Hepatomegaly	OMIM:616622
Alkuraya-Kucinskas Syndrome	Pericardial effusion, Camptodactyly, Pleural effusion, Edema, Arthrogryposis multiplex congenita	OMIM:617822

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