banner
Genes Phenotypes Help, News, Blog

Gene: Adm MGI:108058

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
adrenomedullin
Synonyms:
AM

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 Adm mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... OMIM:603965
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis OMIM:607832
Lymphatic Malformation 2
Lymphedema OMIM:611944
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Lipedema
Edema OMIM:614103
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Lymphatic Malformation 3
Lymphedema OMIM:613480
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Atrial fibrillation, Proteinuria, Recurrent urinary tract infections, Dysuri... ORPHA:976
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... OMIM:618061
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... OMIM:162000
Orthostatic Hypotension 2
Orthostatic hypotension, Decreased glomerular filtration rate OMIM:618182
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Secundum atrial septal defect, Glome... ORPHA:2260
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Congenital Heart Block
First degree atrioventricular block, Crackles, Hydrops fetalis, Atrioventricular block, Vaginal b... ORPHA:60041
Takayasu Arteritis
Arteritis OMIM:207600
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist... ORPHA:90308
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Follicular Lymphoma
Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleural effusion ORPHA:545
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Lymphatic Malformation 10
Lymphedema OMIM:619369
Chylous Ascites
Ascites, Lymphedema ORPHA:1160
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... OMIM:619462
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega... ORPHA:2414
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Decreased glomerular filtration rate OMIM:242530
Fetal Parvovirus Syndrome
Thrombocytopenia, Increased nuchal translucency, Hydrops fetalis, Hypertrophic cardiomyopathy, As... ORPHA:295
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Re... OMIM:603278
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Lymphatic Malformation 4
Pedal edema, Lymphedema OMIM:615907
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Myocarditis, Oliguria, Hypotension, Arrhythmia, Abnormal renal... ORPHA:188
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin... ORPHA:97362
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem... ORPHA:90186
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... OMIM:616730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Transaldolase Deficiency
Edema, Hydrops fetalis, Abnormal respiratory system physiology, Hepatosplenomegaly, Telangiectasi... ORPHA:101028
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive c... OMIM:619433
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... ORPHA:45452
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Abno... ORPHA:1041
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... ORPHA:93101
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... ORPHA:439232
Temporal Arteritis
Retinal arteritis OMIM:187360
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... ORPHA:650
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Proteinuria, Congestive heart fai... ORPHA:85450
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Periglomerular fibrosis, Tubular l... OMIM:619468
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... OMIM:115197
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture... OMIM:618815
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... OMIM:612925
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Neonatal death OMIM:620014
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Dysphagia, P... ORPHA:220393
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Bacterial endocarditis ORPHA:1054
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612924
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612926
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
Lissencephaly 2
Lymphedema OMIM:257320
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Moyamoya Disease 1
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia OMIM:252350
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Splenomegaly, Flexion contracture, Cardiomyopathy, Abnormality of the ... OMIM:608540
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Renal insufficiency, Epistaxis, Conges... ORPHA:727
Lymphatic Malformation 5
Facial edema, Predominantly lower limb lymphedema OMIM:153200
Sialidosis Type 2
Hepatomegaly, Dyspnea, Splenomegaly, Hydrops fetalis, Pedal edema, Umbilical hernia, Ascites ORPHA:87876
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Respiratory insufficiency, Stillbirt... OMIM:600972
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension OMIM:267430
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Dicarboxylic aciduria, Ventricular tachycardia, Oliguria, Cardiomyopathy, Hypotensi... ORPHA:159
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... ORPHA:567548
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... OMIM:618348
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites ORPHA:2123
Glycogen Storage Disease Iv
Decreased fetal movement, Portal hypertension, Polyhydramnios, Edema, Hydrops fetalis, Hepatosple... OMIM:232500
Nephrosialidosis
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Cholestasis-Lymphedema Syndrome
Splenomegaly, Lymphedema OMIM:214900
Dohle Bodies And Leukemia
Lymphedema OMIM:223350
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, P... ORPHA:568051
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... OMIM:161900
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Focal segmental glomerulosclerosi... ORPHA:347
Fetal Gaucher Disease
Decreased fetal movement, Hepatomegaly, Fetal akinesia sequence, Abnormality of the spleen, Splen... ORPHA:85212
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Polyhydramnio... ORPHA:363705
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor... ORPHA:3405
Ethanolaminosis
Cardiomegaly OMIM:227150
Vasculitis, Lymphocytic, Nodular
Nodular inflammatory vasculitis OMIM:192310
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Hypertension, Focal segmental glomerulosclerosis, Enl... OMIM:232200
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Decreased glomerular filtration rate OMIM:601198
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... OMIM:601927
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Aggressive behavior, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic... ORPHA:488627
Congenital Enterovirus Infection
Abnormal bleeding, Decreased fetal movement, Respiratory distress, Premature birth, Skin rash, Fe... ORPHA:292
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctatio... OMIM:215045
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Polyhydramnios, Congestive heart failure, Splenomegaly, Hydrops fetal... ORPHA:163596
Infantile Sialic Acid Storage Disease
Hepatomegaly, Premature birth, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrops feta... OMIM:269920
Lassa Fever
Shock, Oliguria, Dysphagia ORPHA:99824
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Pulmona... OMIM:619003
Colchicine Poisoning
Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, Oliguria, Hypotension, C... ORPHA:31824
Primary Effusion Lymphoma
Pericardial effusion, Dyspnea, Pleural effusion, Abnormal peritoneum morphology ORPHA:48686
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Hypertension, Focal segmental glomerulo... OMIM:232220
Hemochromatosis, Neonatal
Abnormal bleeding, Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibro... OMIM:231100
Campomelia, Cumming Type
Polysplenia, Lymphedema OMIM:211890
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy... ORPHA:84090
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phy... ORPHA:85447
Lissencephaly 7 With Cerebellar Hypoplasia
Neonatal death, Lymphedema OMIM:616342
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Nonimmune hydrops fetalis, Por... ORPHA:367
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria OMIM:222100
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis, ... OMIM:256550
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Abnormal onset of bleeding, Cerebral ischemia, Stroke ORPHA:3325
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Dyspnea, Pericardial eff... ORPHA:199241
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios ORPHA:2204
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Hematuria, Hypertension, Focal... OMIM:232240
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Abnormal repetitive manneris... OMIM:618347
Developmental And Epileptic Encephalopathy 96
Neonatal respiratory distress, Hydrops fetalis OMIM:619340
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Premat... ORPHA:555874
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, A... OMIM:614702
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Skin rash, Abnormal heart valve morphology, Pruritus, Dyspnea, Pericardial effusion... ORPHA:36412
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Abnormal heart morphology, Hypoxemia, Small plac... ORPHA:439167
Lymphedema, Primary, With Myelodysplasia
Lymphedema OMIM:614038
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... OMIM:613090
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... OMIM:256300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Acute Monoblastic/Monocytic Leukemia
Oliguria, Anorexia ORPHA:514
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Cinca Syndrome
Hepatosplenomegaly, Eosinophilia, Lymphadenopathy, Lymphedema OMIM:607115
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Myocarditis, Oliguria, Subconjunctival hemorrhage, Bradycardia, Hypot... ORPHA:319213
Melorheostosis
Lymphedema ORPHA:2485
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Dys... OMIM:607426
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Renal insufficiency, Recurrent urinary tract infections, Proteinuria,... OMIM:619487
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Peric... OMIM:253250
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema OMIM:618154
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Centrally nuclea... OMIM:255320
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Achondrogenesis
Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios ORPHA:932
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... ORPHA:276621
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... OMIM:619313
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... OMIM:614473
Milroy Disease
Predominantly lower limb lymphedema, Pedal edema, Lymphedema ORPHA:79452
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Proteinuria, Glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Abnormal ... OMIM:619428
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Lymphedema ORPHA:3226
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... OMIM:617575
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Splenomegaly, Oliguria, Bradycardia, Reversible renal failure, Hypoten... ORPHA:90051
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal s... ORPHA:320
Greenberg Dysplasia
Lymphedema ORPHA:1426
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Achondrogenesis Type 1B
Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios ORPHA:93298
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Alkaptonuria
Mitral valve calcification, Aortic valve calcification, Elevated urinary homogentisic acid, Nephr... OMIM:203500
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy, Lymphedema ORPHA:33276
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Vexas Syndrome
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... OMIM:301054
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy OMIM:105200
Achondrogenesis Type 1A
Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios ORPHA:93299
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites ORPHA:69735
Congenital Disorder Of Glycosylation, Type Il
Decreased fetal movement, Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal... OMIM:608776
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphedema ORPHA:1116
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... OMIM:609015
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Lymphedema OMIM:616006
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype... ORPHA:731
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pericardial effusion, Sing... OMIM:620244
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy, Nephrocalcino... OMIM:620152
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Tachycardia, Respiratory dist... ORPHA:26793
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard... ORPHA:679
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Hyperaldosteronism, Familial, Type Iii
Hypertension, Polydipsia, Polyuria, Hypercalciuria OMIM:613677
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... OMIM:618775
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Cantu Syndrome
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, ... OMIM:239850
Q Fever
Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis... ORPHA:781
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Portal vein thrombosis, Pulmonary embolism ORPHA:82
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrop... OMIM:616897
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema OMIM:613089
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Left ven... ORPHA:251274
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Alpha-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Hydrops fetalis, Cholelithiasis ORPHA:846
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema ORPHA:3137
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... ORPHA:29072
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, T... ORPHA:247691
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Dyspnea, Pancreatic cyst... ORPHA:464329
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Portal hypertension, Aggressive behavior, Chronic ki... ORPHA:84081
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Polyhydramnios, Cryptorchidism, Aplasia/Hy... ORPHA:1263
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Abnormal myocardium morphology, Hypersplenism, Splenomegaly, ... ORPHA:77259
Cholestasis-Lymphedema Syndrome
Splenomegaly, Lymphedema ORPHA:1414
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Abnormal le... ORPHA:2041
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h... ORPHA:31826
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrops fetalis, Jaundic... OMIM:617049
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema ORPHA:79279
Acute Interstitial Pneumonia
Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemi... ORPHA:79126
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Lysinuric Protein Intolerance
Hepatomegaly, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Hepatosplenomegaly, Abn... ORPHA:470
Infection-Related Hemolytic Uremic Syndrome
Anuria, Myocarditis, Oliguria, Hypertension, Acute kidney injury, Nephrotic range proteinuria, De... ORPHA:544482
Tenosynovial Giant Cell Tumor
Joint swelling, Lymphedema ORPHA:66627
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arteriov... ORPHA:137667
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Dyspnea, Malar rash, Prolonged QTc interval, Petechiae ORPHA:231111
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki... ORPHA:567546
Al-Gazali-Bakalinova Syndrome
Lymphedema OMIM:607131
Hypercalcemia, Infantile, 2
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis OMIM:616963
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... OMIM:230500
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion, Anhydramnios OMIM:613885
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Decreased fetal movement, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular sep... OMIM:620070
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Hypertension, Anuria, Acute kidney injury OMIM:235400
Cronkhite-Canada Syndrome
Splenomegaly, Lymphedema ORPHA:2930
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Ring Chromosome 22 Syndrome
Pleural effusion, Edema, Lymphedema ORPHA:1446
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve ... ORPHA:99776
Free Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Ascites, Hydrops fetalis ORPHA:834
Denys-Drash Syndrome
Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma ORPHA:220
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, S... ORPHA:75249
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrome, Fo... OMIM:194080
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Radiation Proctitis
Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Arteritis, Hematochezia ORPHA:70475
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Dy... ORPHA:2038
Mucopolysaccharidosis Type 7
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Arteriovenous malformation, Umbilical herni... ORPHA:584
German Syndrome
Lymphedema ORPHA:2077
Trisomy 1Q
Small scrotum, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital dia... ORPHA:261344
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Juvenile Temporal Arteritis
Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia ORPHA:26137
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Morbilliform rash, Ecchym... ORPHA:99827
Galactosialidosis
Conjunctival telangiectasia, Nonimmune hydrops fetalis, Hepatosplenomegaly, Decreased beta-galact... OMIM:256540
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo... ORPHA:369929
Combined Oxidative Phosphorylation Deficiency 57
Apnea, Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fetalis, Cardiac arrest, ... OMIM:620167
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissect... ORPHA:229
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema ORPHA:261519
Liddle Syndrome
Renal insufficiency, Hypertension, Cerebral ischemia, Nephropathy, Arrhythmia ORPHA:526
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory... ORPHA:333
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Nonimmune hydrops fetalis ORPHA:477774
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Perianal abscess, Pericardial effusion OMIM:614684
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Polyhydramnios, Parachute mitral valve, Asplenia, Atrial septal defect, Ne... OMIM:265380
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Trisomy 13
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrops fetalis, Atrial sept... ORPHA:3378
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Proteinuria, Minimal change glomerulonephritis, Congestive heart failu... ORPHA:1830
White Sponge Nevus 2
Edema OMIM:615785
Combined Oxidative Phosphorylation Deficiency 42
Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Anemia OMIM:618839
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Congestive heart failure, Splenomegaly, Nephrotic syndrome, Focal segm... OMIM:617303
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Hypovolemia, E... ORPHA:223
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Hypertension, Tubulointer... OMIM:615862
Pediatric Systemic Lupus Erythematosus
Skin rash, Edema, Raynaud phenomenon, Discoid lupus rash, Dyspnea, Pericardial effusion, Ascites,... ORPHA:93552
Combined Oxidative Phosphorylation Deficiency 40
Premature birth, Nonimmune hydrops fetalis, Neonatal death, Hypertrophic cardiomyopathy, Anemia OMIM:618835
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Splenomegaly, Hydrops fetalis, Prolonged neonatal jaundice ORPHA:766
Cardiac Valvular Dysplasia 1
Edema, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tri... OMIM:212093
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Fetal akinesia sequence, Cardiomegaly, ... OMIM:617022
Takayasu Arteritis
Abnormal endocardium morphology, Increased inflammatory response, Hypertensive crisis, Abnormal h... ORPHA:3287
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Thyroid lymph... OMIM:235510
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Peri... OMIM:212065
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphedema ORPHA:182
Lymphedema-Hypoparathyroidism Syndrome
Lymphedema OMIM:247410
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Cardiac-Urogenital Syndrome
Patent urachus, Atrial septal defect, Scimitar anomaly, Mesocardia, Accessory spleen, Prolonged b... OMIM:618280
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Anemia, Cardiomegaly OMIM:618838
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Lymphedema OMIM:152950
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Gm1 Gangliosidosis
Premature birth, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, S... ORPHA:354
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis, Abnormal renal physiology OMIM:223900
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Hydrops fetalis, Cardiomyopathy, Abnormality of the liver, Prolong... ORPHA:88618
Bardet-Biedl Syndrome 17
Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro... OMIM:615994
Alg8-Cdg
Elevated hepatic transaminase, Premature birth, Edema, Hydrops fetalis, Ascites, Oligohydramnios ORPHA:79325
Monosomy 18P
Lymphedema ORPHA:1598
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Acute kidney injury, Oliguria, ST segment depression, Hypotension, Abnorma... ORPHA:466650
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia ORPHA:95626
Immunodeficiency 59 And Hypoglycemia
Recurrent skin infections, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Arteritis,... OMIM:233600
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Schimke Immunoosseous Dysplasia
Renal insufficiency, Transient ischemic attack, Proteinuria, Stage 5 chronic kidney disease, Hype... OMIM:242900
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat... ORPHA:563
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Hypercalcemia, Infantile, 1
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis OMIM:143880
Lymphangiectasia, Intestinal
Stillbirth, Edema, Pedal edema OMIM:152800
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Hydrops fetalis, Hydrocele testis, Neutropenia, Congenital thrombocytopenia, An... OMIM:616738
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular e... ORPHA:91500
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Congestive heart failure, Peritonit... ORPHA:533
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medial calcification of large arteries, Polyhydramnios, Edema, Cardiomegaly... ORPHA:51608
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Gaucher Disease, Perinatal Lethal
Respiratory distress, Decreased fetal movement, Hepatomegaly, Premature birth, Nonimmune hydrops ... OMIM:608013
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Heparan sulfate excretion in urine, Aggressive behavio... OMIM:252920
Gitelman Syndrome
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... ORPHA:358
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic... OMIM:617729
Silver-Russell Syndrome Due To A Point Mutation
Asthma, Small placenta, Oligohydramnios ORPHA:397590
Congenital Gerbode Defect
Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... ORPHA:99095
Dahlberg-Borer-Newcomer Syndrome
Lymphedema ORPHA:1563
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney... OMIM:173900
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Flexion contracture, Hydrops fetalis, Abnormal heart morphology, S... ORPHA:1865
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Melena, Nephrocalci... OMIM:276700
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Central Diabetes Insipidus
Polydipsia, Nocturia, Anorexia ORPHA:178029
Campomelia, Cumming Type
Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Familial Exudative Vitreoretinopathy
Macular edema, Lymphedema ORPHA:891
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventricular noncompac... OMIM:619167
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestina... ORPHA:90362
Cholera
Tachycardia, Abnormality of renal excretion, Hypovolemic shock, Hypotension, Acute kidney injury,... ORPHA:173
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Poems Syndrome
Edema, Respiratory insufficiency due to muscle weakness, Pericardial effusion, Abnormality of ski... ORPHA:2905
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... ORPHA:213
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... ORPHA:275766
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Ventricular septal defect, Lymphe... OMIM:153400
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu... OMIM:610205
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Skin rash, Pneumonia, Chilblains, Edema, Hematemesis, Pericardial effusion, Splenom... OMIM:615846
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Hypertension, Enuresis, Hypocalciuria, Renal sodium w... OMIM:612780
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... OMIM:619351
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Yellow Nail Syndrome
Lymphedema ORPHA:662
Gaucher Disease Type 3
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ... ORPHA:77261
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Transient ischemic attack, Pneumonia, Glomerulonep... ORPHA:1304
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis, Congestive heart failure, Respiratory insufficiency, ... OMIM:166210
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema OMIM:137940
Noonan Syndrome 13
Lymphedema OMIM:619087
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Ascites, Polyhydramnios, Lymphedema OMIM:235255
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Increased urinary potassium, Hypertension, Palpitations, Polydipsia ORPHA:231580
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Complement Component 4A Deficiency
Vasculitis, Glomerulonephritis OMIM:614380
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Mgat2-Cdg
Abnormal bleeding, Respiratory distress, Ventricular septal defect, Reduced level of N-acetylgluc... ORPHA:79329
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Pedal edema... ORPHA:228116
Klippel-Trenaunay-Weber Syndrome
Lymphedema OMIM:149000
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture, Hydrops feta... OMIM:253220
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Decreased bet... ORPHA:79255
Gitelman Syndrome
Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Ventricular tachycardia, ... OMIM:263800
Lymphoproliferative Syndrome 1
Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly OMIM:613011
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... ORPHA:536532
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Hypertension, Acute kidney injury OMIM:618886
Alg9-Cdg
Thickened nuchal skin fold, Decreased fetal movement, Hepatomegaly, Tricuspid regurgitation, Vent... ORPHA:79328
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Polyphagia OMIM:615986
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Abnormal renal physiology OMIM:266500
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Megacystis, Polyuria OMIM:304800
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology OMIM:123550
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Nonimmune hydrops fetalis, Reduced red cell pyruvate kinase level, Splenomegaly, Ja... OMIM:266200
Chédiak-Higashi Syndrome
Abnormal bleeding, Elevated hepatic transaminase, Recurrent bacterial skin infections, Skin rash,... ORPHA:167
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Polyhydramnios, Large placenta, Abnormal heart morphology, Umbilical h... ORPHA:254534
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites OMIM:618183
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Familial Multiple Nevi Flammei
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... ORPHA:624
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Myocardial infarction, Hemoglobinuria, Hypertension, Acute kidney injury ORPHA:90038
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Melas
Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Nephropathy, Dilated... ORPHA:550
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Polydipsia, Epistaxis ORPHA:403
Hennekam Syndrome
Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hydrops fetalis, Resp... ORPHA:2136
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Rayna... ORPHA:289390
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ... ORPHA:449395
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... ORPHA:79282
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Schneckenbecken Dysplasia
Umbilical hernia, Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios OMIM:269250
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septa... ORPHA:980
Achondrogenesis, Type Ii
Stillbirth, Hydrops fetalis, Polyhydramnios, Edema OMIM:200610
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr... ORPHA:47159
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Bilateral fetal pyelectasis, Polyhydramnios, Seborrheic dermatitis, Breech presenta... OMIM:300868
Greenberg Dysplasia
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I... OMIM:215140
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren... OMIM:243910
Secondary Intestinal Lymphangiectasia
Intestinal lymphedema, Edema, Lymphedema, Chylous ascites, Anasarca, Pleural effusion ORPHA:90363
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Coronary artery calcification, Myocardial infarction, Cardiomegaly... OMIM:208000
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Polydipsia OMIM:239200
Scimitar Syndrome
Respiratory distress, Heart block, Pulmonary artery hypoplasia, Cough, Atrial septal defect, Sing... ORPHA:185
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Decreased muscle mass, Hip contracture, Premature birth, Nonimmune hydr... OMIM:208150
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly, Hydrops fetalis,... OMIM:224120
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Upper eyelid edema ORPHA:293939
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... OMIM:126320
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Hypereosinophilia, Lymphadenopathy ORPHA:2035
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Polyhydramnios, Splenomegaly, Patent du... OMIM:613610
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte... ORPHA:199343
Multiple Pterygium Syndrome, Escobar Variant
Decreased fetal movement, Diaphragmatic eventration, Multiple joint contractures, Hypospadias, Co... OMIM:265000
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Purpura, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:745
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Edema OMIM:617822
Ectodermal Dysplasia And Immunodeficiency 1
Lymphedema OMIM:300291
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Dyspnea, Pneumothorax, Chylopericardium, Restrictive ven... ORPHA:538
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... ORPHA:99104
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitr... OMIM:212140
Helix Syndrome
Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia OMIM:617671
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Subcutaneous hem... ORPHA:743
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Gaucher Disease
Abnormal bleeding, Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abn... ORPHA:355
Buerger Disease
Vasculitis ORPHA:36258
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Atrial fibrillation, Congestive heart failure, Splenomegaly, Hyperte... ORPHA:525731
Phelan-Mcdermid Syndrome
Palpebral edema, Lymphedema OMIM:606232
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hepatic fibrosis, Hydrops fetalis OMIM:614091
Fabry Disease
Lymphedema OMIM:301500
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers... OMIM:613095
Yellow Fever
Shock, Renal insufficiency, Anuria, Supraventricular arrhythmia, Hematemesis, Pancreatic hyperpla... ORPHA:99829
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t... ORPHA:774
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Grange Syndrome
Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,... OMIM:602531
Infantile Systemic Hyalinosis
Lymphedema ORPHA:2176
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... OMIM:600376
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Arrhythmia OMIM:255120
Fibrochondrogenesis 1
Hydrops fetalis, Stillbirth, Camptodactyly, Joint contracture of the hand, Patent foramen ovale OMIM:228520
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... OMIM:175050
Takenouchi-Kosaki Syndrome
Lymphedema OMIM:616737
Clapo Syndrome
Lymphedema ORPHA:168984
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of... ORPHA:97214
Congenital Myopathy 22B, Severe Fetal
Decreased fetal movement, Scapular winging, Hip contracture, Limb joint contracture, Nonimmune hy... OMIM:620369
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Vasculitis, Skin rash ORPHA:889
Primary Erythromelalgia
Vasculitis ORPHA:90026
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom... ORPHA:646
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Congenital diaphragmatic hernia, Anencephaly, Hydrops fetalis, Atrial septal defe... OMIM:616546
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Hypovolemia, Stage 5 chronic kidney dis... ORPHA:411634
Brain-Lung-Thyroid Syndrome
Atrial septal defect, Hyperactivity, Hypospadias, Ventricular septal defect, Abnormal eating beha... ORPHA:209905
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Pulmonary arterial hypertensio... OMIM:613845
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Cardiac conduction abnormality,... ORPHA:699
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Large placenta, Ja... OMIM:222470
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato... ORPHA:99931
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, Chylothorax OMIM:613563
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Cerebrofacioarticular Syndrome
Lymphedema ORPHA:314679
Hsd10 Disease, Infantile Type
Restlessness, Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Abnormal concentration of acy... ORPHA:391428
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Hypertension OMIM:603903
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... ORPHA:73224
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Cardiomegaly, Right bundle branch block, Pollakisuria, Reduced left ventricular eje... ORPHA:268
Hereditary Elliptocytosis
Splenomegaly, Jaundice, Hydrops fetalis, Prolonged neonatal jaundice, Cholelithiasis ORPHA:288
Phakomatosis Pigmentokeratotica
Lymphedema ORPHA:2874
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, A... ORPHA:99094
Ogden Syndrome
Global glomerulosclerosis, Atrial septal defect, Bicuspid aortic valve, Left atrial enlargement, ... OMIM:300855
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myocardial infarction, Anorexia, Myocard... ORPHA:3452
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular ... OMIM:617713
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Achondrogenesis, Type Ia
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... OMIM:200600
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pericardial effusion, Dyspnea, Splenomegaly, Bronchiectasis, Hypoxemia, Restrictive... OMIM:181000
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d... ORPHA:411709
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Sudden cardiac death, Exercise-induced myoglobinuria, Cardio... OMIM:201475
Alagille Syndrome 1
Duplicated collecting system, Atrial septal defect, Ventricular septal defect, Multiple small med... OMIM:118450
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Ventricular septal defect, Hydrops fetalis, Coarctation of aorta ORPHA:268249
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Autosomal Recessive Spastic Paraplegia Type 11
Lymphedema ORPHA:2822
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Respiratory insufficie... OMIM:139210
Catastrophic Antiphospholipid Syndrome
Transient ischemic attack, Angina pectoris, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Wolfram Syndrome
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Cardiomyopathy, Abnorma... ORPHA:3463
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cardiofaciocutaneous Syndrome
Lymphedema ORPHA:1340
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Myoglobinuri... ORPHA:228308
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Eosinophilia, Auto... ORPHA:3261
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Predominantly lower limb lymphedema OMIM:604121
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Proximal tubulopathy, Polyuria OMIM:560000
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Erdheim-Chester Disease
Renal insufficiency, Dysuria, Abnormal pericardium morphology, Congestive heart failure, Abnormal... ORPHA:35687
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Coronary artery stenosis, Stroke, Myocardial infarction OMIM:615812
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Nonimmune hydrops fetalis OMIM:618265
Diamond-Blackfan Anemia
Acute myeloid leukemia, Ventricular septal defect, Nonimmune hydrops fetalis, Pure red cell aplas... ORPHA:124
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension, Renal cor... OMIM:613159
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hydrops fetalis, Macronodular c... OMIM:557000
Bannayan-Riley-Ruvalcaba Syndrome
Lymphedema ORPHA:109
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema ORPHA:33001
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t... ORPHA:537
Aymé-Gripp Syndrome
Pericardial effusion, Patent ductus arteriosus, Pericarditis ORPHA:1272
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Neu-Laxova Syndrome 1
Decreased fetal movement, Ventricular septal defect, Spina bifida, Polyhydramnios, Fetal akinesia... OMIM:256520
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Hyperzincemia With Functional Zinc Depletion
Vasculitis, Skin rash OMIM:601979
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Hydrops fetalis, Hepatic... OMIM:263520
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lymphedema ORPHA:79280
Restrictive Dermopathy
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... ORPHA:1662
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Edema, Pulmonary embolism, Budd-Chiari syndrome, Intestinal lymphangiectasia, Ascit... OMIM:226300
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Arrhyt... ORPHA:42
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Polyhydramnios, Cardiomegaly, Cryptorchidism, Increased n... ORPHA:3472
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Angina pectoris, Low-output congestive heart failure, Abnor... ORPHA:565612
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... OMIM:300280
Blomstrand Lethal Chondrodysplasia
Premature birth, Hydrops fetalis, Polyhydramnios, Coarctation of aorta ORPHA:50945
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Pleural effusion, Chylothorax, Edema, Lymphedema ORPHA:2526
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Nephroblastoma, Shortened QT interval, Nephrolithiasis, Ren... ORPHA:99880
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Proteinuria, Focal segmental g... OMIM:619127
Cystinosis, Nephropathic
Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal dysp... OMIM:219800
Mosaic Trisomy 16
Premature birth, Ventricular septal defect, Large placenta, Patent ductus arteriosus, Coarctation... ORPHA:1708
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... ORPHA:399
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... ORPHA:308552
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Nephroblastoma, Shortened QT interval, Nephrolithiasis, Ren... ORPHA:143
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... OMIM:617667
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Low-... OMIM:241200
Noonan Syndrome
Abnormality of the spleen, Lymphedema ORPHA:648
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Medullary nephrocalcinosis, Polyuria OMIM:300971
Familial Cold Urticaria
Polydipsia ORPHA:47045
Schneckenbecken Dysplasia
Polyhydramnios, Lymphedema ORPHA:3144
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Spondylodysplastic Ehlers-Danlos Syndrome
Lymphedema ORPHA:536471
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Edema, Right ventricular failure, Pulmonary embolism, Incr... ORPHA:70591
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Phocomelia, Schinzel Type
Hypoplasia of penis, Cryptorchidism, Meningocele, Hydrops fetalis, Aplasia of the uterus ORPHA:2879
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Hepatoerythropoietic Porphyria
Abnormal bleeding, Abnormal circulating enzyme concentration or activity, Recurrent bacterial ski... ORPHA:95159
Spondyloocular Syndrome
Lymphedema OMIM:605822
Schnitzler Syndrome
Arthritis, Vasculitis, Skin rash ORPHA:37748
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Isolated Osteopoikilosis
Addictive alcohol use, Abnormality of the kidney, Abnormal heart morphology ORPHA:166119
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Respiratory failure, Large placenta, Polyhydramnios ORPHA:254528
Oculoectodermal Syndrome
Lymphedema OMIM:600268
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Abnorm... ORPHA:183
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Panniculitis, Cystic acne, Small vessel vasculitis, Acne inversa OMIM:608068
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Lymphedema ORPHA:487796
Wells Syndrome
Vasculitis ORPHA:901
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Cough, Raynaud ph... ORPHA:3260
Kagami-Ogata Syndrome
Respiratory failure requiring assisted ventilation, Premature birth, Polyhydramnios, Large placen... ORPHA:254519
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Vasculitis, Pyelonephritis, Recurrent sinusitis, R... OMIM:610984
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Vasculitis, Arthritis, Inflammation of t... ORPHA:324964
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Neoplasm of the pancreas, Transien... ORPHA:2929
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, 3-Methylglutaconic aciduria, Congestive heart failure, Cardiomegaly OMIM:619259
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Long penis, Nephrocalcinosis, Cardiomyopathy, Atrial... ORPHA:769
Kanzaki Disease
Lymphedema OMIM:609242
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Vasculitis, Hypotension, Pancreatitis ORPHA:70578
Anti-Glomerular Basement Membrane Disease
Arthritis, Vasculitis ORPHA:375
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic... OMIM:608836
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac... OMIM:232300
Fabry Disease
Lymphedema ORPHA:324
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Bronchiectasis,... ORPHA:79128
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Predominantly lower limb lymphedema ORPHA:314404
Muckle-Wells Syndrome
Episcleritis, Skin rash, Vasculitis, Uveitis, Arthritis, Conjunctivitis, Recurrent aphthous stoma... ORPHA:575
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... ORPHA:391665
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Low-... OMIM:601678
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Marchiafava-Bignami Disease
Addictive alcohol use, Urinary incontinence, Aggressive behavior ORPHA:221074
Panhypophysitis
Orthostatic hypotension, Polydipsia, Hyposthenuria ORPHA:95513
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Malformation of the hepatic ductal plate, Asplenia, Br... OMIM:249000
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Cogan Syndrome
Aortic regurgitation, Episcleritis, Keratitis, Vasculitis, Uveitis, Large vessel vasculitis, Scle... ORPHA:1467
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardi... OMIM:105210
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia OMIM:614294
Monosomy 22Q13.3
Palpebral edema, Lymphedema ORPHA:48652
Acute Promyelocytic Leukemia
Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Hematuria, Addictive alcohol use ORPHA:520
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Septo-Optic Dysplasia Spectrum
Polydipsia, Hypoplasia of penis ORPHA:3157
Congenital Erythropoietic Porphyria
Abnormal bleeding, Recurrent bacterial skin infections, Nonimmune hydrops fetalis, Edema, Pruritu... ORPHA:79277
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Acute Lung Injury
Shock, Addictive alcohol use, Diffuse alveolar hemorrhage ORPHA:178320
Dehydrated Hereditary Stomatocytosis
Edema, Portal vein thrombosis, Splenomegaly, Intermittent jaundice, Pulmonary venous hypertension... ORPHA:3202
Familial Chylomicronemia Syndrome
Acute pancreatitis, Precocious atherosclerosis, Pulmonary embolism, Perianal abscess, Jaundice, H... ORPHA:444490
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect OMIM:620024
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Portal hypertension, Cardiomegaly, Congestive heart failure, Splenomegaly, Cardiomy... ORPHA:465508
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Skin rash, Myocarditis, Congestive heart failure, ... ORPHA:2331
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Premature deliver... OMIM:130050
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Arthritis, Cerebral ischemia, Aortic d... ORPHA:397
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Atrial septal defect, Premature birth, Ventricular septal defect, Polyhydramnios, L... ORPHA:96334
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Vasc... ORPHA:793
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Skin rash, Angina pecto... ORPHA:93672
Noonan Syndrome 1
Chylothorax, Lymphedema OMIM:163950
Tangier Disease
Accelerated atherosclerosis, Left ventricular hypertrophy, Carotid artery stenosis, Coronary arte... ORPHA:31150
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Beck-Fahrner Syndrome
Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly OMIM:618798
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... OMIM:615343
Turner Syndrome Due To Structural X Chromosome Anomalies
Lymphedema ORPHA:99413
Mosaic Monosomy X
Lymphedema ORPHA:99228
Monosomy X
Lymphedema ORPHA:99226
Turner Syndrome
Lymphedema ORPHA:881
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Peritonitis, Vasculitis, Arthritis, Recurrent aphthous stomatitis ORPHA:343
Proteus Syndrome
Splenomegaly, Thymus hyperplasia, Lymphedema ORPHA:744
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... OMIM:211900
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Myositis, Fasciitis, Skin rash, Orchitis, Peritonitis, Vasculitis, Uveitis, Arthrit... ORPHA:32960
Mucopolysaccharidosis Type 3
Hepatomegaly, Hyperactivity, Abnormal mitral valve morphology, Aggressive behavior, Heparan sulfa... ORPHA:581
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Vasculitis, Arthritis, Keratoconjunctivitis sicca ORPHA:91138
Classic Homocystinuria
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Pulmonary embolism, Int... ORPHA:394
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Vasculitis, Infectious encephalitis OMIM:308240
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... ORPHA:117
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Vasculitis, Recurrent pneumonia, Hematochezia, Subconjunctival hemorrhage, Inflammatio... OMIM:617718
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Boutonneuse Fever
Skin rash, Vasculitis, Maculopapular exanthema ORPHA:83313
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Glandular hypospadias, Cardiomegaly OMIM:620306
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy ORPHA:158687
Beckwith-Wiedemann Syndrome
Hepatomegaly, Premature birth, Polyhydramnios, Cardiomegaly, Large placenta, Splenomegaly, Abnorm... ORPHA:116
Staphylococcal Necrotizing Pneumonia
Shock, Addictive alcohol use, Hypotension ORPHA:36238
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... OMIM:275210
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Prolonged neonatal jaundice OMIM:185000
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis ORPHA:279914
Rheumatoid Arthritis
Vasculitis, Rheumatoid arthritis OMIM:180300
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Pmm2-Cdg
Elevated hepatic transaminase, Respiratory distress, Pericarditis, Angina pectoris, Lymphedema, P... ORPHA:79318
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... ORPHA:365
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Renal artery aneurysm, Skin rash, Eczema, Portal hypertension, Raynaud phenomenon, Erythema nodos... OMIM:615688
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Autoimmune Lymphoproliferative Syndrome
Vasculitis OMIM:601859
Localized Scleroderma
Fasciitis, Raynaud phenomenon, Vasculitis, Uveitis, Arthritis, Stroke, Esophagitis, Arrhythmia, H... ORPHA:90289
Yunis-Varon Syndrome
Premature birth, Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardio... OMIM:216340
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Dehydration, Hypertension, Elevat... ORPHA:94093
Familial Mediterranean Fever
Pericarditis, Skin rash, Myocardial infarction, Orchitis, Osteoarthritis, Vasculitis, Peritonitis... ORPHA:342
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Vasculitis, Nephritis, Malar rash OMIM:603909
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Recurrent ... ORPHA:900
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Horseshoe k... OMIM:617140
Aicardi-Goutieres Syndrome 1
Cardiomyopathy, Vasculitis, Chilblains OMIM:225750
Porphyria Cutanea Tarda
Increased urinary porphobilinogen, Addictive alcohol use, Stage 5 chronic kidney disease, Porphyr... ORPHA:101330
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Raynaud phenomenon, Vasculitis, Hepatitis, Hypertension, Arthritis, Juvenil... ORPHA:1855
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Hyp... OMIM:609049
Wiskott-Aldrich Syndrome
Sinusitis, Recurrent intrapulmonary hemorrhage, Eczema, Sudden cardiac death, Epistaxis, Keratiti... ORPHA:906
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use ORPHA:399180
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Heart m... OMIM:252500
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Vasculitis, Skin rash OMIM:617099
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis, Hydrops fetalis, Respiratory insufficiency ORPHA:93271
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal tubuloi... ORPHA:904
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria OMIM:230000
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Self-injurious behavior, Enuresis, Compulsive behaviors, Polydipsia, Polyphagia ORPHA:293987
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Vasculitis, Vas... ORPHA:228123
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Polyuria, Hypertension, Dysphagia, Pulmonary arterial hypertension OMIM:606721
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... ORPHA:33226
Immunoglobulin A Vasculitis
Episcleritis, Gastrointestinal hemorrhage, Skin rash, Pustule, Orchitis, Vasculitis, Arthritis, I... ORPHA:761
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Bradycardia, Nephroblastoma ORPHA:97297
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inappropriate laughter, Cardiomegaly OMIM:618143
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Bronchiectasis, Otitis media, Chronic otitis media ORPHA:1572
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Mucosal telangiectasiae ORPHA:2463
Herpes Simplex Virus Encephalitis
Addictive alcohol use ORPHA:1930
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... OMIM:194050
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Arthrit... ORPHA:221
Liver Disease, Severe Congenital
Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Left atrial enlargement, Ventricul... OMIM:619991
Multiple Osteochondromas
Cervical myelopathy, Pneumothorax, Pseudoaneurysm, Hemothorax ORPHA:321
Phacoanaphylactic Uveitis
Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Panuveitis, Posterior uveitis ORPHA:209959
Aicardi-Goutières Syndrome
Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Micropenis, Hypertrophic cardiomyopathy ORPHA:51
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Abnormal erythrocyte enzyme level, Dyspnea, Jaundice, ... ORPHA:447
Abetalipoproteinemia
Hepatomegaly, Congestive heart failure, Cardiomegaly ORPHA:14
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion ORPHA:289176
Kikuchi-Fujimoto Disease
Skin rash, Pustule, Myocarditis, Vasculitis, Vasculitis in the skin, Malar rash ORPHA:50918
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Arrhythmia OMIM:256040
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... OMIM:182250

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Adm

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Adm.

No publications found that use IMPC mice or data for Adm.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Admtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Admtm1(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter