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Gene: Adm MGI:108058

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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
Lymphedema, Pedal edema OMIM:619401
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... OMIM:603965
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... OMIM:619263
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension OMIM:607832
Lymphatic Malformation 2
Lymphedema OMIM:611944
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Lipedema
Edema OMIM:614103
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Lymphatic Malformation 3
Lymphedema OMIM:613480
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney d... OMIM:618061
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Oligomeganephronia
Polydipsia, Secundum atrial septal defect, Renal tubular atrophy, Decreased glomerular filtration... ORPHA:2260
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... OMIM:162000
Orthostatic Hypotension 2
Orthostatic hypotension, Decreased glomerular filtration rate OMIM:618182
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Nephrotic Syndrome, Type 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... OMIM:256370
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypertension, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
German Syndrome
Lymphedema OMIM:231080
Takayasu Arteritis
Arteritis OMIM:207600
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Renal insu... OMIM:614723
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Atrial septal defect, Hepatomegaly, Respiratory insufficiency, ... ORPHA:90308
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Hyper... OMIM:601894
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:615573
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphedema, Pleural effusion, Lymphadenopathy ORPHA:545
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Dysphagia, Proteinuria, Rena... OMIM:254900
Chylous Ascites
Lymphedema, Ascites ORPHA:1160
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Decreased glomerular filtration rate OMIM:242530
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Fetal Parvovirus Syndrome
Hydrops fetalis, Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy, Increased nuchal transluc... ORPHA:295
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Lymphatic Malformation 10
Lymphedema OMIM:619369
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Chronic pulmonary ... ORPHA:2414
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... ORPHA:45452
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Arrhythmia, Myocarditis, Hypotension, Oliguria, Renal insuffici... ORPHA:188
Transaldolase Deficiency
Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Coarctation of aorta, Biven... ORPHA:101028
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Meige Disease
Predominantly lower limb lymphedema, Facial edema, Lymph node hypoplasia, Absence of lymph node g... ORPHA:90186
Hereditary Renal Hypouricemia
Chronic kidney disease, Decreased glomerular filtration rate, Abnormal renal physiology, Abnormal... ORPHA:94088
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio... OMIM:616818
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Nephronophthisis 1
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial ... OMIM:256100
Extracranial Carotid Artery Aneurysm
Stroke, Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Total anomalous pulmonary venous ... ORPHA:494424
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... OMIM:619155
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Premature birth, Ventricular septal defect, Oligohydramnio... ORPHA:1909
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Edema OMIM:618154
Aapoaiv Amyloidosis
Cardiac amyloidosis, Chronic kidney disease, Left bundle branch block, Abnormal renal medulla mor... ORPHA:439232
Lymphatic Malformation 4
Lymphedema OMIM:615907
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Twin-to-twin transfusion, Increased placen... ORPHA:1041
Temporal Arteritis
Retinal arteritis OMIM:187360
Renal Hypoplasia
Chronic kidney disease, Polydipsia, Abnormal renal tubule morphology, Unilateral renal agenesis, ... ORPHA:93101
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria ORPHA:2613
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:613944
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Lcat Deficiency
Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Acute kidney injury, Stag... ORPHA:650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Stage 5 chronic kidney disease... OMIM:612925
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glomerular filtration rate, Re... ORPHA:85450
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis OMIM:614196
Moyamoya Disease 1
Telangiectasia, Carotid artery occlusion, Inflammatory arteriopathy OMIM:252350
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... OMIM:618349
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive ca... OMIM:619433
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Micropenis, Hypospadias, Hydrops fetalis, Dilated cardiomyopathy, Cryptorchi... OMIM:618815
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:612922
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Oliguria, Renal insufficiency, Hypertensive crisis, Dysphagia, Pulmon... ORPHA:220393
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Heart murmur, Oliguria, Aortic regurgitation, Congestive heart failure ORPHA:1054
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Lymphedema, Fetal ascites OMIM:620014
Achondrogenesis, Type Ib
Respiratory insufficiency, Hydrops fetalis, Polyhydramnios, Umbilical hernia, Edema, Stillbirth, ... OMIM:600972
Lissencephaly 2
Lymphedema OMIM:257320
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, S... OMIM:619468
Renal Glucosuria
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna OMIM:233100
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Pulmona... ORPHA:93126
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Splenomegaly, Nonimmune hydrops fetalis, Hypogonadism, Abnormality of the am... OMIM:608540
Microscopic Polyangiitis
Arrhythmia, Hematuria, Vasculitis, Oliguria, Renal insufficiency, Glomerulopathy, Gastrointestina... ORPHA:727
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Stroke, Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac de... OMIM:115197
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... ORPHA:54370
Lymphatic Malformation 5
Predominantly lower limb lymphedema, Facial edema OMIM:153200
Renal Tubular Dysgenesis
Anuria, Abnormality of the urinary system, Renotubular dysgenesis, Hypotension OMIM:267430
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Umbilical hernia, Dyspnea, Ascites ORPHA:87876
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Arrhythmia, Hypotension, Oliguria, Dicarboxylic aciduria, Ventricular tachycardia, ... ORPHA:159
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Hematuria, Proteinuria, Decreased urine output, Pal... ORPHA:340
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... ORPHA:63
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Pulmonary embolism, Abnormal glomerular visce... ORPHA:567548
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:618348
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d... OMIM:602522
Ochoa Syndrome
Polydipsia, Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obs... ORPHA:2704
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Ascites, Premature birth ORPHA:2123
Cholestasis-Lymphedema Syndrome
Lymphedema, Splenomegaly OMIM:214900
Senior-Loken Syndrome 4
Polyuria, Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Glycogen Storage Disease Iv
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Portal hypertens... OMIM:232500
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Hydrops fetalis, Nonimmune hydrops... OMIM:603830
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Hydrops fetalis, Preeclampsia, Polyhydramnios, Pericarditis, Oligohyd... ORPHA:163596
Frasier Syndrome
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... ORPHA:347
Gjc2-Related Late-Onset Primary Lymphedema
Predominantly lower limb lymphedema, Facial edema, Genital edema, Edema of the dorsum of hands, P... ORPHA:568051
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Arrhythmia, Oliguria, Acute kidney injury, Renal insufficien... ORPHA:99845
Craniofaciofrontodigital Syndrome
Respiratory distress, Stroke, Anomalous branches of internal carotid artery, Ventricular septal d... ORPHA:363705
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chronic... OMIM:161900
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Ascites OMIM:256150
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal aortic morphology, A... ORPHA:3405
Ethanolaminosis
Cardiomegaly OMIM:227150
Glycogen Storage Disease Ic
Hepatomegaly, Decreased glomerular filtration rate, Hematuria, Spider hemangioma, Focal segmental... OMIM:232240
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Glycogen Storage Disease Ia
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kidney, Focal segme... OMIM:232200
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Hepatic failure, Abnormal bleeding, Hydrops fetalis, Premature b... ORPHA:292
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Decreased glomerular filtration rate OMIM:601198
Fetal Gaucher Disease
Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Hydrops fetalis, Abnormality of the spleen, ... ORPHA:85212
Placental Insufficiency
Preeclampsia, Small placenta, Eclampsia, Abnormal umbilical cord blood vessel morphology, Hypoxem... ORPHA:439167
Primary Hyperoxaluria Type 1
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... ORPHA:93598
Dohle Bodies And Leukemia
Lymphedema OMIM:223350
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis OMIM:617731
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... OMIM:601927
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Colchicine Poisoning
Hypovolemia, Arrhythmia, Cardiogenic shock, Myocarditis, Hypotension, Oliguria, Renal insufficien... ORPHA:31824
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Abnormal bleeding, Cirrhosis, Nonimmune hydrops fetalis... OMIM:231100
Lassa Fever
Oliguria, Shock, Dysphagia ORPHA:99824
Glycogen Storage Disease Ib
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, Enlarged kidne... OMIM:232220
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:161950
Vasculitis, Lymphocytic, Nodular
Nodular inflammatory vasculitis OMIM:192310
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Neonatal death, Neonatal respiratory distress, Pulmonary arterial hype... OMIM:619003
Nephronophthisis 4
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... OMIM:606966
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Premature birth, Cardiomegaly, Congestive h... OMIM:269920
Campomelia, Cumming Type
Polysplenia, Lymphedema OMIM:211890
Lissencephaly 7 With Cerebellar Hypoplasia
Lymphedema, Neonatal death OMIM:616342
Attrv30M Amyloidosis
Abnormal renal physiology, Nephropathy, Arrhythmia, Cardiomegaly, Cardiomyopathy, Atrioventricula... ORPHA:85447
Neuraminidase Deficiency
Facial edema, Vacuolated lymphocytes, Splenomegaly, Hydrops fetalis, Ascites, Bone-marrow foam ce... OMIM:256550
Fibronectin Glomerulopathy
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Renal insuffic... ORPHA:84090
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Primary Effusion Lymphoma
Dyspnea, Pericardial effusion, Pleural effusion, Abnormality of the peritoneum ORPHA:48686
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... OMIM:617730
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... ORPHA:656
Nephronophthisis 3
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... OMIM:604387
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure, Elevated pulmonary artery pres... ORPHA:199241
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Splenomegaly ORPHA:2204
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, Respira... ORPHA:367
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... ORPHA:488627
Developmental And Epileptic Encephalopathy 96
Neonatal respiratory distress, Hydrops fetalis OMIM:619340
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... OMIM:618594
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Recurrent spontaneous abortion, Pregnancy exposure, Pulmonary embolism ORPHA:82
Type 1 Diabetes Mellitus
Polyphagia, Polyuria, Polydipsia OMIM:222100
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hypernatriuria, Rena... OMIM:613090
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Stroke, Pulmonary embolism, Cerebral ischemia, Myocardial infarction ORPHA:3325
Achondrogenesis
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis, Umbilical hernia ORPHA:932
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy OMIM:617056
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffic... OMIM:256300
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios... OMIM:616843
Melorheostosis
Lymphedema ORPHA:2485
Denys-Drash Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Nephropathy, Focal segmental glo... OMIM:194080
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Hepatomegaly, Skin rash, Splenomegaly, Cough, Angioedema, Pericardial effusio... ORPHA:36412
Cinca Syndrome
Eosinophilia, Lymphedema, Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Distal Renal Tubular Acidosis
Nephrolithiasis, Polydipsia, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-w... ORPHA:18
Lymphedema, Primary, With Myelodysplasia
Lymphedema OMIM:614038
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Hydrops fetalis, Pericardial constriction, Ascites, Cardiomega... OMIM:253250
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Al-Gazali-Bakalinova Syndrome
Lymphedema OMIM:607131
Lujo Hemorrhagic Fever
Myocarditis, Hypotension, Oliguria, Shock, Renal insufficiency, Subconjunctival hemorrhage, Dysph... ORPHA:319213
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Dys... OMIM:607426
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Achondrogenesis Type 1B
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis, Umbilical hernia ORPHA:93298
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, Nonimmune hydrops... OMIM:619313
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema ORPHA:79452
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Renal ins... ORPHA:567544
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Achondrogenesis Type 1A
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis, Umbilical hernia ORPHA:93299
Sepsis In Premature Infants
Hepatomegaly, Splenomegaly, Tachycardia, Hypotension, Reversible renal failure, Oliguria, Bradyca... ORPHA:90051
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Alkaptonuria
Nephrolithiasis, Aortic valve calcification, Decreased glomerular filtration rate, Mitral valve c... OMIM:203500
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphedema, Splenomegaly, Lymphadenopathy ORPHA:3226
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Micropenis, Left ventricular hypertrophy, Hepatosplenomegaly, Recurrent urinary tra... OMIM:619487
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... ORPHA:276621
Greenberg Dysplasia
Lymphedema ORPHA:1426
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Hydrops fetalis, Arrhythmia, Prenatal maternal abnormality, Elevated c... OMIM:609015
Kaposi Sarcoma
Generalized lymphadenopathy, Lymphedema, Abnormality of the spleen ORPHA:33276
Vexas Syndrome
Nasal chondritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Ar... OMIM:301054
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Polydipsia, Nephronophthisis, Polyuria, Tubulointerstitial ... OMIM:266900
Chilblain Lupus 2
Edema OMIM:614415
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Reduced renal corticomedullary differentiation, Splenomegaly, Hepatosplenomegaly, Rec... ORPHA:731
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Stillbirth, Premature birth OMIM:215045
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Proteinuria, Hypertension OMIM:105200
Pericardial Effusion, Chronic
Retinal arteriolar tortuosity, Pericardial effusion, Constrictive pericarditis OMIM:260900
Senior-Loken Syndrome 3
Polydipsia, Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic k... OMIM:606995
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Single umbilical artery, Left ventricular noncomp... OMIM:613426
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphedema ORPHA:1116
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Lymphedema OMIM:616006
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Edema, Ascites, Pericardial... OMIM:608776
Malignant Atrophic Papulosis
Telangiectasia of the skin, Abnormal pericardium morphology, Peritonitis, Myocardial infarction, ... ORPHA:679
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Apparent Mineralocorticoid Excess
Polydipsia, Left ventricular hypertrophy, Abnormal urine sodium concentration, Renal insufficienc... ORPHA:320
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polyuria, Hydronephrosis, Polydipsia OMIM:304900
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites ORPHA:69735
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Episodic tachypnea, Atrial septal def... ORPHA:26793
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema OMIM:613089
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Patent ductus arteri... OMIM:239850
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Familial Hyperaldosteronism Type Iii
Polydipsia, Left ventricular hypertrophy, Intracranial hemorrhage, Epistaxis, Hypercalciuria, Hyp... ORPHA:251274
Alpha-Thalassemia
Cholelithiasis, Splenomegaly, Hydrops fetalis, Jaundice, Hypersplenism ORPHA:846
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Oligohydramnios, Lymphedema OMIM:613623
Q Fever
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis... ORPHA:781
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Micropenis, Hypospadias, Hydrops fetalis, Ventricular septal defect, Polyhyd... OMIM:616897
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:1263
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Cholelithiasis, Ventricular septal defect, Hyperventilation, Persis... OMIM:618775
Acute Monoblastic/Monocytic Leukemia
Oliguria ORPHA:514
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Acute kidney in... ORPHA:542323
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria OMIM:618347
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Coronary artery aneurysm, Cardiomegaly, Abno... ORPHA:2041
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema ORPHA:3137
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... OMIM:616501
Hypercalcemia, Infantile, 1
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalciuria, Nephrocalcin... OMIM:143880
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... OMIM:617575
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Myocarditis, Oliguria, Acute kidney injury, Hypertensive crisis, Dec... ORPHA:544482
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Raynaud phenomenon, Hypertension, Nephropathy, Retinal neovascularization, Proteinuria, Gastroint... ORPHA:247691
Kaposiform Lymphangiomatosis
Bruising susceptibility, Pancreatic cysts, Abnormal bleeding, Splenomegaly, Abnormal spleen morph... ORPHA:464329
Hyperaldosteronism, Familial, Type Iii
Hypertension, Polyuria, Hypercalciuria, Polydipsia OMIM:613677
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema ORPHA:79279
Cholestasis-Lymphedema Syndrome
Lymphedema, Splenomegaly ORPHA:1414
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis OMIM:607823
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Tenosynovial Giant Cell Tumor
Joint swelling, Lymphedema ORPHA:66627
Acute Interstitial Pneumonia
Hypoxemia, Nonproductive cough, Crackles, Decreased DLCO, Tachypnea, Peripheral edema, Pleural ef... ORPHA:79126
Lethal Congenital Contracture Syndrome 10
Torticollis, Hypoplasia of the thymus, Hydrops fetalis, Oligohydramnios, Ventricular septal defec... OMIM:617022
Drug-Induced Lupus Erythematosus
Petechiae, Malar rash, Prolonged QTc interval, Dyspnea, Pericarditis, Pericardial effusion ORPHA:231111
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis OMIM:619428
Gaucher Disease Type 1
Hepatomegaly, Bruising susceptibility, Splenomegaly, Cirrhosis, Biliary tract obstruction, Gingiv... ORPHA:77259
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Lysinuric Protein Intolerance
Argininuria, Oroticaciduria, Hepatomegaly, Oral aversion, Decreased glomerular filtration rate, A... ORPHA:470
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... ORPHA:29072
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis OMIM:616963
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death, Endocardial fibroelastosis OMIM:276822
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hypertension, Acute kidney injury, Hemolytic-uremic syndrome OMIM:235400
Gm1-Gangliosidosis, Type I
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Decreased beta-galactosidase activity,... OMIM:230500
Nephronophthisis 11
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disinteg... OMIM:613550
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria, Hypertension ORPHA:220
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Iritis, Rheumatoid arthritis, Vascular dilatation, Hypertension... OMIM:108050
Mosaic Trisomy 9
Atrial septal defect, Hypoplasia of penis, Hypoplastic female external genitalia, Camptodactyly o... ORPHA:99776
Capillary Malformation-Arteriovenous Malformation
Abnormal heart morphology, Arteriovenous malformation, High-output congestive heart failure, Peri... ORPHA:137667
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Ring Chromosome 22 Syndrome
Pleural effusion, Lymphedema, Edema ORPHA:1446
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Macroscopic hematuria, Pulmonary embolism, Focal segmental glomeruloscler... ORPHA:567546
Mucopolysaccharidosis Type 7
Arteriovenous malformation, Splenomegaly, Hydrops fetalis, Hepatitis, Lymphedema, Umbilical herni... ORPHA:584
Trisomy 1Q
Congenital diaphragmatic hernia, Camptodactyly of finger, Hydrops fetalis, Ventricular septal def... ORPHA:261344
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Polydipsia, Intracranial hemorrhage, Ventricular septal defect, Second degree at... ORPHA:369929
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:617713
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Cronkhite-Canada Syndrome
Lymphedema, Splenomegaly ORPHA:2930
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis, Elevated circulating aspartate aminotransf... OMIM:617049
German Syndrome
Lymphedema ORPHA:2077
Radiation Proctitis
Abnormal vascular morphology, Arteritis, Abnormal gastrointestinal vascular morphology, Hematochezia ORPHA:70475
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Hepatic failure, Hemothorax, Myocardit... ORPHA:99827
Free Sialic Acid Storage Disease
Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Cardiac Valvular Dysplasia 1
Mitral stenosis, Tricuspid valve prolapse, Tricuspid atresia, Tricuspid regurgitation, Hydrops fe... OMIM:212093
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Single umbil... OMIM:265380
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis OMIM:249660
Trisomy 13
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Abnormal morphology of female i... ORPHA:3378
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema ORPHA:261519
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Nonimmune hydrops fetalis ORPHA:477774
Liddle Syndrome
Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension ORPHA:526
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis, Prolonged neonatal jaundice, Reduced red cell pyruvate kinase level, Splenomegaly ORPHA:766
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion, Perianal abscess OMIM:614684
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Atrial septal defect, Hepatomegaly, Nephritis, Splenomegaly, Renal tubular at... OMIM:617303
Ethylene Glycol Poisoning
Renal tubular dysfunction, Tachycardia, Hematuria, Hypotension, Atrial fibrillation, Shock, Renal... ORPHA:31826
White Sponge Nevus 2
Edema OMIM:615785
Takayasu Arteritis
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Vasculitis, Arthritis, Cerebral is... ORPHA:3287
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Nephrotic range proteinuria, Nephropathy, Cerebral ischemia, Focal segm... ORPHA:1830
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, P... ORPHA:563
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Malar rash, Skin rash, Raynaud phenomenon, Increased circulating lactate dehy... ORPHA:93552
Duplication Of Urethra
Bladder duplication, Chordee, Dysuria, Distal urethral duplication, Epispadias, Micropenis, Hyper... ORPHA:237
Farber Disease
Respiratory distress, Joint swelling, Abnormal enzyme/coenzyme activity, Cherry red spot of the m... ORPHA:333
Combined Oxidative Phosphorylation Deficiency 42
Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy, Anemia, Premature birth OMIM:618839
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, S... ORPHA:75249
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, St... OMIM:616307
Pulmonary Arteriovenous Malformation
Telangiectasia, Bacterial endocarditis, Hemothorax, Abnormal bleeding, Pulmonary hemorrhage, Palp... ORPHA:2038
Combined Oxidative Phosphorylation Deficiency 40
Nonimmune hydrops fetalis, Neonatal death, Anemia, Hypertrophic cardiomyopathy, Premature birth OMIM:618835
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascul... ORPHA:422
Gm1 Gangliosidosis
Abnormal heart morphology, Cherry red spot of the macula, Splenomegaly, Aspiration pneumonia, Dec... ORPHA:354
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Hepatocellular carcinoma, Elevated hepatic transaminase, Cardiomyopathy, Respira... ORPHA:88618
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Hypotension, Oliguria, Acute kid... ORPHA:466650
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Prolonged prothrombin time, Nonimmune hydrops fetalis, Pericardial effusion, Elevat... OMIM:212065
Chromomycosis
Predominantly lower limb lymphedema, Lymphedema, Edema ORPHA:182
Teratoma, Pineal
Polyuria, Polydipsia OMIM:273120
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Thin glomer... OMIM:615244
Lymphedema-Hypoparathyroidism Syndrome
Lymphedema OMIM:247410
Monosomy 18P
Lymphedema ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Lymphedema OMIM:152950
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Nonimmune hydrops fetalis, Premature birth, Cardiomegaly OMIM:618838
Mucopolysaccharidosis, Type Vii
Airway obstruction, Hepatomegaly, Splenomegaly, Hydrops fetalis, Umbilical hernia, Abnormal heart... OMIM:253220
Galactosialidosis
Decreased beta-galactosidase activity, Cherry red spot of the macula, Hepatosplenomegaly, Nonimmu... OMIM:256540
Cardiac-Urogenital Syndrome
Ventricular septal defect, Patent urachus, Prolonged bleeding time, Tracheomalacia, Tachycardia, ... OMIM:618280
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Cerebral ischemia, Focal segmental glomerulosclerosis, Proteinuria, Renal ins... OMIM:242900
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, Recurrent skin infections, Acne inversa, Recurrent aphthous stomatit... OMIM:233600
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... ORPHA:85451
Bardet-Biedl Syndrome 17
Polydipsia, Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chron... OMIM:615994
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153400
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis OMIM:223900
Galloway-Mowat Syndrome 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypertension, Stage 5 chronic kidne... OMIM:617729
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Nephrocalcinosis, Hypertension, Congestive heart failure OMIM:614473
Lymphangiectasia, Intestinal
Pedal edema, Stillbirth, Edema OMIM:152800
Juvenile Idiopathic Arthritis
Joint swelling, Hepatomegaly, Skin rash, Splenomegaly, Pericardial effusion, Psoriasiform dermatitis ORPHA:92
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medial calcification of medium-sized arteries, Stroke, Aortic dissection, V... ORPHA:51608
Senior-Boichis Syndrome
Renal atrophy, Chronic kidney disease, Polydipsia, Reduced renal corticomedullary differentiation... ORPHA:84081
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... OMIM:203780
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Thyroid lymphangiectasia, Erysipelas, Spina bifida occulta, Ventricular sep... OMIM:235510
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Alg8-Cdg
Hydrops fetalis, Elevated hepatic transaminase, Edema, Oligohydramnios, Premature birth, Ascites ORPHA:79325
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Stroke, Hypertension, Coronary artery stenosis OMIM:615812
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral regurgitation, Mitral valve prolapse, Polycystic kidney dysplasia, Renal insufficiency, Hy... OMIM:173900
Listeriosis
Osteomyelitis, Stroke, Pustule, Arteritis, Peritonitis, Endocarditis, Myocarditis, Cholecystitis,... ORPHA:533
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations... ORPHA:275766
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Asthma, Oligohydramnios ORPHA:397590
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Petechiae, Hepatomegaly, Hepatic failure, Splenomegaly, Hepatospleno... OMIM:608013
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria ORPHA:95626
Gitelman Syndrome
Polydipsia, Proteinuria, Renal potassium wasting, Prolonged QT interval, Renal tubular acidosis, ... ORPHA:358
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Focal segmental ... OMIM:614748
Poems Syndrome
Abnormality of skin physiology, Ascites, Pleural effusion, Restrictive ventilatory defect, Edema,... ORPHA:2905
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Chronic tubulointerstitial nephritis, Nephrono... OMIM:602088
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Polydipsia, Renal tubular acidosi... OMIM:248250
Cholera
Abnormality of renal excretion, Hypovolemic shock, Tachycardia, Hypotension, Acute kidney injury,... ORPHA:173
Familial Exudative Vitreoretinopathy
Macular edema, Lymphedema ORPHA:891
Campomelia, Cumming Type
Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
Dahlberg-Borer-Newcomer Syndrome
Lymphedema ORPHA:1563
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease OMIM:619603
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Respiratory insufficiency, Nonimmune hydrops fetalis, Premature birth, C... OMIM:166210
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... ORPHA:99105
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Flexion contracture, Hydrops fetalis, Increased placental thickness, Encephalocel... ORPHA:1865
Gaucher Disease Type 3
Aortic valve calcification, Hepatomegaly, Splenomegaly, Hydrops fetalis, Mitral valve calcificati... ORPHA:77261
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Hydrops fetalis, Congenital thrombocytopenia, Neutropenia, Anemia, Thrombocytop... OMIM:616738
Alagille Syndrome 2
Renal tubular acidosis, Atrial septal defect, Pulmonic stenosis, Hematuria, Tetralogy of Fallot, ... OMIM:610205
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Renal cortical hyperechogenicity, Fetal megacystis, Pyeloneph... OMIM:619351
Buschke-Ollendorff Syndrome
Lymphedema ORPHA:1306
Mgat2-Cdg
Respiratory distress, Abnormal bleeding, Reduced level of N-acetylglucosaminyltransferase II, Hyd... ORPHA:79329
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrophy, Mitral reg... OMIM:619167
Klippel-Trenaunay-Weber Syndrome
Lymphedema OMIM:149000
Nephrogenic Diabetes Insipidus
Polydipsia, Hypovolemia, Hydroureter, Hyposthenuria, Functional abnormality of the bladder, Renal... ORPHA:223
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hematemesis, Skin rash, Splenomegaly, Atopic dermatitis, Oligohydramnios, Chilblain... OMIM:615846
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... OMIM:265300
Tyrosinemia, Type I
Melena, Hepatomegaly, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Enlarged kidney, ... OMIM:276700
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Stillbirth, Edema OMIM:200610
Congenital Gerbode Defect
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Holosystolic mu... ORPHA:99095
Brucellosis
Transient ischemic attack, Osteomyelitis, Orchitis, Arteritis, Endocarditis, Glomerulonephritis, ... ORPHA:1304
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... OMIM:187300
Refsum Disease, Classic
Abnormal renal physiology, Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Cirrhotic Cardiomyopathy
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Jau... ORPHA:57777
Yellow Nail Syndrome
Lymphedema ORPHA:662
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Lymphedema, Ascites, Splenomegaly OMIM:235255
Noonan Syndrome 13
Lymphedema OMIM:619087
Complement Component 4A Deficiency
Glomerulonephritis, Vasculitis OMIM:614380
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Abnormal lymphatic vessel morphology, Intestinal lymphangiectasia, Edema, Pl... ORPHA:90362
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Hyp... ORPHA:93108
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Vitreous hemorrhage, Aminoaciduria, Decreased glomerular filtration ... ORPHA:91500
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... ORPHA:615
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Inflammatory abnormality of the skin, Arteritis, Lymphadenitis, Inters... ORPHA:449395
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Acute kidney injury, Proteinuria, Hypertension, Cardiomegaly OMIM:618886
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Nonimmune hydrops fetalis, Cholecystitis, Jaundice, R... OMIM:266200
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Polyhydramnios, Anasarca, Pleural effusion, Ascites, Pericardial effusion OMIM:618183
Classical-Like Ehlers-Danlos Syndrome Type 2
Prominent veins on trunk, Bruising susceptibility, Mitral valve prolapse, Aortic root aneurysm, U... ORPHA:536532
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... ORPHA:217607
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Lymphedema, Nonimmune hydrops fetalis OMIM:137940
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Pulmonary aterial intimal fibrosis, Right ventricular hypertrophy... OMIM:178600
Cystinosis
Renal tubular dysfunction, Polydipsia, Aminoaciduria, Nephropathy, Proteinuria, Renal insufficien... ORPHA:213
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Alg9-Cdg
Abnormal heart morphology, Asthma, Atrial septal defect, Tricuspid regurgitation, Periportal fibr... ORPHA:79328
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Ventricular septal defect, Polyhydramnios, Umbilical hernia, Abnormal heart morph... ORPHA:254534
Chédiak-Higashi Syndrome
Decreased liver function, Recurrent bacterial skin infections, Jaundice, Skin rash, Bruising susc... ORPHA:167
Gitelman Syndrome
Polydipsia, Polyuria, Hypocalciuria, Nocturia, Palpitations, Hypotension, Salt craving, Ventricul... OMIM:263800
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... ORPHA:93110
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium, Palpitations, Hypertension, Epistaxis ORPHA:231580
Wells Syndrome
Eosinophilia, Edema ORPHA:901
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Myocardial infarction, Acute kidney injury, Hypertension, Anuria ORPHA:90038
Schneckenbecken Dysplasia
Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Umbilical hernia OMIM:269250
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Pleural effusion, Splenomegaly OMIM:613011
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary embolism, Vasculitis, Cough, Pedal edema, Arterial stenosis,... ORPHA:228116
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Atrial septal defect, Hepatomegaly, Microvesicular hepatic steatosis, Elevated circulating alkali... OMIM:300868
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria, Hypertension OMIM:123550
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Stroke, Systol... ORPHA:99103
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Decreased beta-galactosidase activity, Aspiration pneumonia, Hepat... ORPHA:79255
Greenberg Dysplasia
Echogenic fetal bowel, Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Hydrops fetalis, ... OMIM:215140
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Left atrial enlargement, Right bundle branch block, At... ORPHA:99106
Melas
Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Nephropathy, Focal segmen... ORPHA:550
Primary Sjögren Syndrome
Chronic active hepatitis, Optic neuritis, Lymphocytic interstitial pneumonia, Raynaud phenomenon,... ORPHA:289390
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Stroke, Subdural hemorrhage, Dehydration, Hydrops fetalis, Pulmonary emboli... ORPHA:79282
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Renal insufficiency OMIM:615986
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis, Polydipsia OMIM:125800
Cranioectodermal Dysplasia 2
Atrial septal defect, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Hydrops fetalis, ... OMIM:613610
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Polydipsia OMIM:304800
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, R... ORPHA:980
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Congenital diaphragmatic hernia, Micropenis, Hydrops fetalis, Anencephaly, ... OMIM:616546
Ectodermal Dysplasia And Immunodeficiency 1
Lymphedema OMIM:300291
Familial Multiple Nevi Flammei
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Edema, Venou... ORPHA:624
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Splenomegaly, Reduced level of N-acetylglucosaminyltransferase II, Hydrops fetalis,... OMIM:224120
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Heart murmur, Ventricular septal ... ORPHA:99050
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Stroke, Hepatomegaly, Bruising ... ORPHA:729
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Renal tubular acidosis, Hepatomegaly, Cardiomegaly OMIM:255120
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Weakness of fa... OMIM:265000
Secondary Intestinal Lymphangiectasia
Chylous ascites, Intestinal lymphedema, Lymphedema, Anasarca, Pleural effusion, Edema ORPHA:90363
Proximal Renal Tubular Acidosis
Nephrolithiasis, Polydipsia, Aminoaciduria, Hyperuricosuria, Hypovolemia, Glycosuria, Global prox... ORPHA:47159
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Pulmonary arterial hyperte... OMIM:613845
Familial Hyperaldosteronism Type I
Hypertension, Intracranial hemorrhage, Epistaxis, Polydipsia ORPHA:403
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr... ORPHA:158684
Gaucher Disease
Aortic valve calcification, Hepatomegaly, Cherry red spot of the macula, Abnormal pericardium mor... ORPHA:355
Clapo Syndrome
Lymphedema ORPHA:168984
Hennekam Syndrome
Arteriovenous malformation, Chylothorax, Splenomegaly, Pulmonary lymphangiectasia, Respiratory in... ORPHA:2136
Scimitar Syndrome
Respiratory distress, Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal de... ORPHA:185
Yellow Fever
Supraventricular arrhythmia, Hematemesis, Pancreatic hyperplasia, Shock, Reduced left ventricular... ORPHA:99829
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphadenitis, Lymphedema, Hypereosinophilia, Lymphadenopathy ORPHA:2035
Fibrochondrogenesis 1
Joint contracture of the hand, Hydrops fetalis, Camptodactyly, Patent foramen ovale, Stillbirth OMIM:228520
Fabry Disease
Lymphedema OMIM:301500
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... OMIM:600376
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis ORPHA:85166
Distal Xq28 Microduplication Syndrome
Upper eyelid edema, Predominantly lower limb lymphedema ORPHA:293939
Central Diabetes Insipidus
Polydipsia, Nocturia ORPHA:178029
Hyperphosphatemia, Polyuria, And Seizures
Polyuria OMIM:239350
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Hepatic fibrosis, Ascites OMIM:614091
Phelan-Mcdermid Syndrome
Palpebral edema, Lymphedema OMIM:606232
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Nephrolithiasis, Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrop... OMIM:615474
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Infantile Systemic Hyalinosis
Lymphedema ORPHA:2176
Buerger Disease
Vasculitis ORPHA:36258
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Polydipsia, Polyuria, Hypocalciuria, Salt craving, Renal sodium wasting, Renal potassium wasting,... OMIM:612780
Bartter Syndrome, Type 3
Increased urinary potassium, Polyuria, Hypocalciuria, Hypotension, Renal potassium wasting, Hyper... OMIM:607364
Hyperparathyroidism, Neonatal Severe
Polydipsia, Hepatomegaly, Aminoaciduria, Splenomegaly, Polyuria, Hypercalciuria, Hyperphosphaturia OMIM:239200
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Stroke, Hepatic arteriovenous malformation, Mitral regurgitation, Pulmonary arteriovenous malform... OMIM:175050
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormal heart valve physiology, Stroke, Preeclampsia, Pulmonary embolism, Retin... ORPHA:464343
Sickle Cell Anemia
Hepatomegaly, Splenomegaly, Hematuria, Renal insufficiency, Hypertension, Cardiomegaly OMIM:603903
Niemann-Pick Disease Type C
Abnormality of the liver, Hepatomegaly, Jaundice, Hepatic failure, Aspiration pneumonia, Splenome... ORPHA:646
Lymphangioleiomyomatosis
Chylopericardium, Chylothorax, Cough, Gastrointestinal hemorrhage, Lymphedema, Restrictive ventil... ORPHA:538
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Edema OMIM:617822
Grange Syndrome
Bicuspid aortic valve, Coronary artery stenosis, Renovascular hypertension, Carotid artery stenos... OMIM:602531
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Helix Syndrome
Nephrolithiasis, Polydipsia, Polyuria, Hypocalciuria, Renal insufficiency OMIM:617671
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Unroofed coronary sinus, Anomalous pulmonary venous return, Stroke, ... ORPHA:99104
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Situs inversus totalis, D... OMIM:613095
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... OMIM:601005
Primary Erythromelalgia
Vasculitis ORPHA:90026
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Respiratory distress, Stroke, Hepatomegaly, Atriove... ORPHA:97214
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Subcutaneous hemorrhage, Pulmonary embolism, Purpura, Abnormal cerebral vascular morphology, Veno... ORPHA:743
East Syndrome
Polydipsia, Salt craving, Renal magnesium wasting, Renal sodium wasting, Enuresis, Abnormal urina... ORPHA:199343
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Arrhythmia, Dilated car... OMIM:300257
Cutaneous Small Vessel Vasculitis
Vasculitis, Skin rash, Recurrent skin infections ORPHA:889