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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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 Similarity of
phenotypes
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