Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:314560 |
Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Abnormal ble... |
OMIM:619267 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Tatsumi Factor Deficiency |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:272650 |
Athrombia, Essential |
|
Prolonged bleeding time, Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhe... |
OMIM:209050 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... |
OMIM:615888 |
Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Purpura, Int... |
OMIM:273800 |
Glanzmann Thrombasthenia |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired collagen-related peptide-induced... |
ORPHA:849 |
Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Impaired collagen-induced platelet aggregation, M... |
OMIM:614201 |
Bleeding Disorder, Platelet-Type, 14 |
|
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis |
OMIM:614158 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Purpura, Epistaxis, Impaired ristocetin-induced platelet aggregation, Gingival... |
OMIM:231200 |
Factor V Deficiency |
|
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... |
OMIM:227400 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
Prothrombin Deficiency, Congenital |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Menorrhagia, Gastrointestinal ... |
OMIM:613679 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c... |
OMIM:161900 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:608404 |
Von Willebrand Disease, Type 3 |
|
Persistent bleeding after trauma, Abnormal bleeding, Bruising susceptibility, Impaired platelet a... |
OMIM:277480 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Afibrinogenemia, Congenital |
|
Death in infancy, Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Brui... |
OMIM:202400 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... |
OMIM:155100 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Hemophilia B |
|
Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom... |
ORPHA:98879 |
Von Willebrand Disease, Type 1 |
|
Persistent bleeding after trauma, Bruising susceptibility, Impaired platelet aggregation, Epistax... |
OMIM:193400 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Hermansky-Pudlak Syndrome 7 |
|
Post-partum hemorrhage, Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Menorr... |
OMIM:614076 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Abnormal bleeding, Impaired platelet aggregation |
OMIM:173420 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Bleeding Disorder, Platelet-Type, 17 |
|
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... |
OMIM:187900 |
Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... |
OMIM:614723 |
Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... |
OMIM:602088 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Bruising susceptibility, Epistaxis, Impaired collagen-induced platelet aggrega... |
OMIM:139090 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Congenital Factor Ii Deficiency |
|
Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracranial hemorr... |
ORPHA:325 |
Thrombocytopenia, Paris-Trousseau Type |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:188025 |
Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... |
ORPHA:328 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure |
OMIM:301021 |
Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... |
OMIM:619468 |
Slc35A1-Cdg |
|
Prolonged bleeding time, Pulmonary hemorrhage, Abnormal bleeding, Subcutaneous hemorrhage |
ORPHA:238459 |
Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... |
ORPHA:327 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp... |
OMIM:179800 |
Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circulating ... |
OMIM:615517 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Bruising susceptibility, Prolonged bleeding time, Epistaxis, Petechiae |
OMIM:314050 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... |
ORPHA:567544 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia, Renal cyst, Nephropathy, Elevated circulating creatinine concentration, Focal segm... |
OMIM:617056 |
Nephronophthisis 16 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... |
OMIM:615382 |
Factor X Deficiency |
|
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P... |
OMIM:227600 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Hypernatriuria, De... |
OMIM:300539 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Hepatosplenomegaly, Renal cyst, Reduced renal corti... |
OMIM:619902 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding |
ORPHA:1059 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Bruising susceptibility, Myocardial infarction, Menorrhagia, Pr... |
ORPHA:182050 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... |
OMIM:174000 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... |
OMIM:620121 |
Storage Pool Platelet Disease |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:185050 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation, Bruising susceptibility |
OMIM:601399 |
Tubulointerstitial Nephritis With Uveitis |
|
Glomerulonephritis, Elevated circulating creatinine concentration, Reversible renal failure, Acut... |
OMIM:607665 |
C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... |
OMIM:613092 |
Cryoglobulinemia, Familial Mixed |
|
Hematuria, Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria,... |
OMIM:123550 |
Hermansky-Pudlak Syndrome 6 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
OMIM:614075 |
Combined Deficiency Of Factor V And Factor Viii |
|
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... |
ORPHA:35909 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... |
OMIM:266900 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Nephropathy, Macroscopic ... |
ORPHA:79233 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
Hermansky-Pudlak Syndrome 5 |
|
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagia, Prolo... |
OMIM:614074 |
Klippel-Trénaunay Syndrome |
|
Pulmonary embolism, Congestive heart failure, Internal hemorrhage, Gastrointestinal hemorrhage, P... |
ORPHA:90308 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Splenomegaly, Hepatomegaly |
OMIM:615285 |
Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency |
ORPHA:54057 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612926 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Genetic Hyperferritinemia Without Iron Overload |
|
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... |
ORPHA:254704 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Congestive heart failure, Stillbirth, Death in adolescence, Neon... |
OMIM:619751 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Reduced left ventricular ejection fraction, Death in infancy, Congestive heart failure, Hypertrop... |
OMIM:614096 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... |
OMIM:615605 |
Preeclampsia |
|
Acute kidney injury, Abnormality of the kidney, Elevated circulating creatinine concentration, Pr... |
ORPHA:275555 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy |
OMIM:617184 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy, Elevated circulati... |
OMIM:616733 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hepatomegaly |
OMIM:617872 |
Hermansky-Pudlak Syndrome 1 |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Prolonged bleeding time, Hemat... |
OMIM:203300 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Intracranial hemorrhage, Bruising susceptibility |
ORPHA:3226 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Essential Thrombocythemia |
|
Transient ischemic attack, Myocardial infarction, Prolonged bleeding time |
ORPHA:3318 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... |
OMIM:608836 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Absence of re... |
OMIM:263200 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries |
ORPHA:90301 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death |
OMIM:300076 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Hepatom... |
OMIM:614376 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Petechiae, Abnormal platelet function, Purpura, Intracranial hemorrhage, Br... |
ORPHA:906 |
Acquired Von Willebrand Syndrome |
|
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Intracranial hemorrhage, ... |
ORPHA:99147 |
Congenital Fibrinogen Deficiency |
|
Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Internal hemorrhag... |
ORPHA:335 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary insufficiency |
OMIM:245650 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Hyperechogenic kidneys |
OMIM:619111 |
Hemochromatosis Type 2 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... |
ORPHA:79230 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged... |
OMIM:277450 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Abnormal bleeding, Prolonged prothrombin time |
OMIM:610842 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death |
OMIM:619602 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Neonatal death |
OMIM:615228 |
Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged prothrombin time |
ORPHA:49566 |
Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... |
OMIM:120330 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea nitrogen, Hyperca... |
ORPHA:251004 |
Mixed Connective Tissue Disease |
|
Pulmonary arterial hypertension, Purpura, Pericarditis, Gastrointestinal hemorrhage, Prolonged bl... |
ORPHA:809 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Hyperlipidemi... |
OMIM:232200 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death |
OMIM:612138 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndrome, Renal interstitial amylo... |
ORPHA:85450 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Neonatal death, Cardiomyopathy |
OMIM:619003 |
Glycogen Storage Disease Ib |
|
Hyperuricemia, Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Hyperlipidemi... |
OMIM:232220 |
Renal Cysts And Diabetes Syndrome |
|
Hyperuricemia, Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral ... |
OMIM:137920 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death |
OMIM:614870 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy |
OMIM:242500 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Enlarged kidney, Glomerular sclerosis, Elevated circulating alpha-fetoprotein... |
OMIM:276700 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Pro... |
ORPHA:439232 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Nephritis, Hepatomegaly, Proteinuria,... |
OMIM:617303 |
Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... |
ORPHA:411634 |
Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Abnormal renal physiology, Increased blood urea nitrogen, Elevated cir... |
OMIM:274150 |
Macs Syndrome |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:613075 |
Igg4-Related Retroperitoneal Fibrosis |
|
Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Membranous n... |
ORPHA:49041 |
Fetal Gaucher Disease |
|
Neonatal death, Intracranial hemorrhage, Stillbirth, Death in infancy |
ORPHA:85212 |
Relapsing Fever |
|
Increased total bilirubin, Acute kidney injury, Hematuria, Elevated circulating C-reactive protei... |
ORPHA:91547 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... |
OMIM:620138 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis |
OMIM:608022 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Increased blood urea nitrogen, Hyperlipid... |
OMIM:235400 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death |
OMIM:601612 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly |
OMIM:615415 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circ... |
OMIM:154230 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Urethral atresia, Hydronephrosis |
OMIM:314390 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Urinary incontinence, Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypotr... |
OMIM:618885 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in childhood, Death in infancy |
OMIM:619334 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death |
OMIM:615918 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Nephropathy,... |
OMIM:194080 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Glomerular sclero... |
ORPHA:93126 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hepatomegaly, Hypoalbuminemia |
OMIM:608104 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Decreased retinol-bind... |
ORPHA:449395 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Ur... |
OMIM:208540 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation |
OMIM:608233 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy |
OMIM:613730 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... |
ORPHA:542323 |
Wiskott-Aldrich Syndrome |
|
Small vessel vasculitis, Petechiae, Large vessel vasculitis, Purpura, Epistaxis, Hematemesis, Gin... |
OMIM:301000 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Fanconi Anemia, Complementation Group O |
|
Neonatal death, Miscarriage, Death in infancy |
OMIM:613390 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Proteinuria, Hematuria |
ORPHA:90060 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypercholesterolemia, Hyperuricemia, Stage 5 chronic kidney disease, Enlarged kidney, Hepatomegal... |
ORPHA:79259 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death |
OMIM:602199 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Prolonged prothrombin time, Death in adolescence, Intraventricular hemorrhage, ... |
OMIM:619055 |
H Syndrome |
|
Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Hypertriglyceridemia, Micropenis |
ORPHA:168569 |
Multiple Myeloma |
|
Nephrotic syndrome, Acute kidney injury, Abnormality of the bladder, Nephropathy, Hypercalcemia, ... |
ORPHA:29073 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Enlarged kidney, Hepatosplenomegaly, Hypoalbuminemia, Proteinuria, Urinary gl... |
ORPHA:505248 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time, Cardiomyopathy |
OMIM:616483 |
Histidinemia |
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Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Inhalational Anthrax |
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Hypotension, Internal hemorrhage |
ORPHA:247257 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Enlarged kidney, Polycystic kidney dysplasia, Micropenis, Renal dysplasia |
OMIM:613091 |
Beckwith-Wiedemann Syndrome |
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Nephroblastoma, Vesicoureteral reflux, Renal cortical cysts, Pancreatic hyperplasia, Nephrocalcin... |
OMIM:130650 |
Acrocephalopolydactylous Dysplasia |
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Enlarged kidney, Cystic renal dysplasia, Hepatomegaly |
OMIM:200995 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys... |
OMIM:223900 |
Kaposiform Lymphangiomatosis |
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Enlarged kidney, Multiple renal cysts, Splenomegaly, Hepatosplenomegaly |
ORPHA:464329 |
Sickle Cell Anemia |
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Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:232 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Cardiomyopathy, Neonatal death, Death in infancy |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 40 |
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Hypertrophic cardiomyopathy, Neonatal death, Death in infancy |
OMIM:618835 |
Lymphoid Interstitial Pneumonia |
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Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
Endocrine-Cerebroosteodysplasia |
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Enlarged kidney, Hypospadias, Hyperechogenic kidneys, Microphallus |
OMIM:612651 |
Autosomal Recessive Polycystic Kidney Disease |
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Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl... |
ORPHA:731 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
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Neonatal death |
OMIM:619817 |
Dopamine Beta-Hydroxylase Deficiency |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration, Nocturia, Elevated ... |
ORPHA:230 |
Hyperparathyroidism, Transient Neonatal |
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Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Elevated circulating creatinine concentration, Nephropathy, Proteinuria, Glomerular sclerosis |
ORPHA:247691 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
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Neonatal death |
OMIM:618232 |
Bacterial Toxic-Shock Syndrome |
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Recurrent urinary tract infections, Hypocalcemia, Elevated circulating creatine kinase concentrat... |
ORPHA:36234 |
Mucolipidosis Ii Alpha/Beta |
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Increased serum beta-hexosaminidase, Enlarged kidney, Mucopolysacchariduria, Hepatomegaly, Cardio... |
OMIM:252500 |
Boomerang Dysplasia |
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Neonatal death |
OMIM:112310 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Prolonged prothrombin time, Death in infancy |
OMIM:617049 |
Alg9-Cdg |
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Hypoplasia of the bladder, Enlarged kidney, Ureteral hypoplasia, Hepatomegaly, Abnormal renal art... |
ORPHA:79328 |
Lymphatic Malformation 12 |
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Neonatal death, Death in adolescence |
OMIM:620014 |
Acute Interstitial Pneumonia |
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Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Faciocardiomelic Dysplasia, Lethal |
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Neonatal death |
OMIM:227270 |
Hemorrhagic Fever-Renal Syndrome |
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Tubulointerstitial nephritis, Hyperphosphatemia, Anuria, Acute tubulointerstitial nephritis, Acut... |
ORPHA:340 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
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Dilated cardiomyopathy, Mitral regurgitation, Left ventricular systolic dysfunction, Neonatal dea... |
OMIM:619167 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency |
OMIM:617478 |
Acyl-Coa Dehydrogenase 9 Deficiency |
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Sudden cardiac death, Cerebellar hemorrhage, Congestive heart failure, Dilated cardiomyopathy, Hy... |
ORPHA:99901 |
Beckwith-Wiedemann Syndrome |
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Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Elevated circulati... |
ORPHA:116 |
Lethal Congenital Contracture Syndrome 1 |
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Neonatal death |
OMIM:253310 |
Crimean-Congo Hemorrhagic Fever |
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Hypotension, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural hemorrhage... |
ORPHA:99827 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Anuria, Acute kidney injury, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Hypona... |
ORPHA:90038 |
Noonan Syndrome 9 |
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Pulmonic stenosis, Prolonged prothrombin time |
OMIM:616559 |
Cog8-Cdg |
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Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Infantile Liver Failure Syndrome 3 |
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Death in childhood, Prolonged prothrombin time |
OMIM:618641 |
Leprechaunism |
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Enlarged kidney, Hypokalemia, Increased circulating renin level, Long penis, Hepatomegaly, Enlarg... |
ORPHA:508 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
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Neonatal death |
OMIM:601376 |
Abcd Syndrome |
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Neonatal death |
OMIM:600501 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Hematochezia, Prolonged prothrombin time |
OMIM:214950 |
Classical Ehlers-Danlos Syndrome |
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Orthostatic hypotension, Bruising susceptibility, Ecchymosis, Arterial rupture, Mitral regurgitat... |
ORPHA:287 |
Hepatoportal Sclerosis |
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Portal hypertension, Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage |
ORPHA:64743 |
Liver Failure, Infantile, Transient |
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Prolonged prothrombin time, Death in infancy |
OMIM:613070 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Renal malrotation, Enlarged kidney |
ORPHA:500095 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
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Pulmonary arterial hypertension, Neonatal death, Death in infancy |
OMIM:265120 |
Ogden Syndrome |
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Enlarged kidney, Polycystic kidney dysplasia, Hyperbilirubinemia, Global glomerulosclerosis, Card... |
OMIM:300855 |
Meacham Syndrome |
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Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Dilated cardiomyopathy, Portal hypertension, Congestive heart failure, Prolonged prothrombin time |
ORPHA:367 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Hellp Syndrome |
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Hypotension, Cerebral hemorrhage, Prolonged prothrombin time, Internal hemorrhage |
ORPHA:244242 |
Helsmoortel-Van Der Aa Syndrome |
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Enlarged kidney, Enuresis nocturna, Recurrent urinary tract infections |
OMIM:615873 |
Monosomy 13Q34 |
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Epistaxis, Pulmonic stenosis, Hematochezia, Prolonged prothrombin time |
ORPHA:96168 |
Cardiogenic Shock |
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Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Heterotaxy, Visceral, 1, X-Linked |
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Enlarged kidney, Renal agenesis, Horseshoe kidney, Hepatomegaly, Cardiomegaly |
OMIM:306955 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
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Pulmonic stenosis, Prolonged prothrombin time |
OMIM:614300 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Tubulointerstitial nephritis, Aminoaciduria, Renal Fanconi syndrome, Beta 2-microglobulinuria, Re... |
ORPHA:91500 |
Visceral Steatosis, Congenital |
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Neonatal death, Abnormal bleeding |
OMIM:228100 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hematochezia, Prolonged prothrombin time |
OMIM:613812 |
Marburg Hemorrhagic Fever |
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Hypotension, Hypovolemia, Petechiae, Abnormal bleeding, Bruising susceptibility, Internal hemorrh... |
ORPHA:99826 |
Yellow Fever |
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Reduced left ventricular ejection fraction, Supraventricular arrhythmia, Abnormal bleeding, Inter... |
ORPHA:99829 |
Shwachman-Diamond Syndrome 2 |
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Death in childhood, Prolonged prothrombin time, Death in infancy |
OMIM:617941 |
Congenital Disorder Of Glycosylation, Type It |
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Sudden cardiac death, Pulmonary arterial hypertension, Dilated cardiomyopathy, Prolonged prothrom... |
OMIM:614921 |
3-Methylglutaconic Aciduria, Type Viib |
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Abnormal bleeding, Congestive heart failure, Prolonged prothrombin time |
OMIM:616271 |
Sialuria |
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Prolonged prothrombin time |
ORPHA:3166 |
Mednik Syndrome |
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Neonatal death, Death in childhood, Death in infancy |
OMIM:609313 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Hypertrophic cardiomyopathy, Prolonged QT interval, Dilated cardiomyopathy, Prolonged prothrombin... |
ORPHA:71212 |
Congenital Disorder Of Glycosylation, Type Ia |
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Death in infancy, Pericarditis, Prolonged prothrombin time, Death in childhood, Cardiomyopathy |
OMIM:212065 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Prolonged prothrombin time, Cardiomyopathy |
ORPHA:88618 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Prolonged prothrombin time |
ORPHA:79303 |
Cardiac-Urogenital Syndrome |
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Prolonged bleeding time, Tachycardia |
OMIM:618280 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Nephroblastoma, Enlarged kidney, Renal cyst, Duplication of renal pelvis, Hypospadias, Hepatomega... |
OMIM:312870 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Neonatal death |
OMIM:619362 |
Superficial Siderosis |
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Subarachnoid hemorrhage, Abnormal bleeding, Internal hemorrhage, Persistent bleeding after trauma |
ORPHA:247245 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hypercholesterolemia, Stage 5 chronic kidney disease, Hyperbilirubinemia, Medullary nephrocalcino... |
OMIM:619534 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Hypertrophic cardiomyopathy, Prolonged prothrombin time |
OMIM:618329 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Hypotension, Cardiac arrest, Dilated cardiomyopathy, Prolonged prothrombin time |
ORPHA:20 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Prolonged prothrombin time |
OMIM:267700 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Prolonged prothrombin time |
OMIM:603553 |
Celiac Disease, Susceptibility To, 1 |
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Prolonged prothrombin time |
OMIM:212750 |
Kasabach-Merritt Syndrome |
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Purpura, Prolonged prothrombin time, Petechiae |
ORPHA:2330 |
Hepatocellular Carcinoma |
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Hypotension, Portal hypertension, Internal hemorrhage, Budd-Chiari syndrome |
ORPHA:88673 |
Alg12-Cdg |
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Prolonged prothrombin time |
ORPHA:79324 |
Acute Liver Failure |
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Hypotension, Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Shock, Prolonge... |
ORPHA:90062 |
Abetalipoproteinemia |
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Abnormal bleeding, Congestive heart failure, Prolonged prothrombin time |
ORPHA:14 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Hypertrophic cardiomyopathy, Portal hypertension, Prolonged prothrombin time |
ORPHA:309854 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
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Prolonged prothrombin time |
OMIM:311250 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage |
ORPHA:247598 |
Isolated Biliary Atresia |
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Prolonged prothrombin time |
ORPHA:30391 |
Primary Sclerosing Cholangitis |
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Spider hemangioma, Congestive heart failure, Prolonged prothrombin time, Portal hypertension, Pal... |
ORPHA:171 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Prolonged prothrombin time, Corneal neovascularization |
ORPHA:404454 |
Tuberous Sclerosis Complex |
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Hypertension, Internal hemorrhage |
ORPHA:805 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Bleeding with minor or no trauma, Prolonged prothrombin time |
OMIM:619525 |
Vascular Ehlers-Danlos Syndrome |
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Transient ischemic attack, Abnormal bleeding, Hypertension, Internal hemorrhage, Bruising suscept... |
ORPHA:286 |