Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Glanzmann Thrombasthenia 2 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Athrombia, Essential |
|
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... |
OMIM:209050 |
Glanzmann Thrombasthenia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time |
OMIM:614201 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time |
OMIM:615888 |
Glanzmann Thrombasthenia |
|
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... |
ORPHA:849 |
Bleeding Disorder, Platelet-Type, 14 |
|
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time |
OMIM:614158 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... |
OMIM:231200 |
Factor V Deficiency |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... |
OMIM:227400 |
Prothrombin Deficiency, Congenital |
|
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... |
OMIM:613679 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... |
OMIM:161900 |
Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... |
OMIM:277480 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:608404 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Afibrinogenemia, Congenital |
|
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... |
OMIM:202400 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Abnormal bleeding, Me... |
OMIM:155100 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Hemophilia B |
|
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... |
ORPHA:98879 |
Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... |
OMIM:193400 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time |
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 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... |
OMIM:187900 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... |
OMIM:614723 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Epistaxis, Bruising susceptibility, Prolonged bleeding time |
OMIM:314050 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Abnormal bleeding, Menor... |
OMIM:139090 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... |
ORPHA:325 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... |
ORPHA:567544 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:188025 |
Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Congenital Factor Vii Deficiency |
|
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... |
ORPHA:327 |
Slc35A1-Cdg |
|
Abnormal bleeding, Pulmonary hemorrhage, Subcutaneous hemorrhage, Prolonged bleeding time |
ORPHA:238459 |
Nephronophthisis-Like Nephropathy 2 |
|
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... |
OMIM:619468 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... |
OMIM:179800 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure |
OMIM:301021 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Nephronophthisis 16 |
|
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... |
OMIM:615382 |
Fechtner syndrome |
|
Abnormal bleeding, Menorrhagia, Bruising susceptibility, Prolonged bleeding time |
OMIM:153640 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... |
OMIM:619902 |
Neurofibromatosis-Noonan Syndrome |
|
Pulmonic stenosis, Hypertrophic cardiomyopathy, Prolonged bleeding time |
ORPHA:638 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:185050 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Prolonged bleeding time |
ORPHA:1059 |
Myh9-Related Disease |
|
Bruising susceptibility, Menorrhagia, Myocardial infarction, Spontaneous, recurrent epistaxis, Pr... |
ORPHA:182050 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased serum creatinine, Hyponatremia, Decreased circulating renin level |
OMIM:300539 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired platelet aggregation, Epistaxis, Bruising susceptibility, Prolonged bleeding time |
OMIM:601399 |
Factor X Deficiency |
|
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... |
OMIM:227600 |
Tubulointerstitial Nephritis With Uveitis |
|
Glomerulonephritis, Elevated circulating creatinine concentration, Acute tubulointerstitial nephr... |
OMIM:607665 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Elevated circulating creatinine con... |
ORPHA:79233 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Hermansky-Pudlak Syndrome 6 |
|
Bruising susceptibility, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis... |
OMIM:614075 |
Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... |
ORPHA:35909 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... |
OMIM:123550 |
Hermansky-Pudlak Syndrome 5 |
|
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Epistaxis, Prolo... |
OMIM:614074 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
Klippel-Trénaunay Syndrome |
|
Pulmonary embolism, Prolonged bleeding time, Internal hemorrhage, Gastrointestinal hemorrhage, Co... |
ORPHA:90308 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... |
OMIM:266900 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria |
ORPHA:54057 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Stuve-Wiedemann Syndrome 2 |
|
Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stillbirth, Congestive hea... |
OMIM:619751 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the kidney, Elevated circulating creatinine concentration,... |
ORPHA:275555 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy |
OMIM:617184 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy, Elevated circulati... |
OMIM:616733 |
Hermansky-Pudlak Syndrome 1 |
|
Bruising susceptibility, Hematochezia, Gingival bleeding, Ecchymosis, Epistaxis, Cardiomyopathy, ... |
OMIM:203300 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Hepatomegaly, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multip... |
OMIM:613095 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Enlarged kidney, T... |
OMIM:263200 |
Oligomeganephronia |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... |
ORPHA:2260 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time |
ORPHA:3226 |
Essential Thrombocythemia |
|
Myocardial infarction, Transient ischemic attack, Prolonged bleeding time |
ORPHA:3318 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long-chain dicarboxylic aciduria, Hepatomegaly, Elevated circulating long chain fatty acid concen... |
OMIM:608836 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Chronic tubulointerstitial nephritis, Renal hypoplasia, Elevated circulating creati... |
OMIM:614376 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death |
OMIM:300076 |
Dentinogenesis Imperfecta |
|
Bruising susceptibility, Prolonged bleeding time |
ORPHA:49042 |
Wiskott-Aldrich Syndrome |
|
Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Sudden card... |
ORPHA:906 |
Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... |
ORPHA:99147 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary insufficiency, Neonatal death |
OMIM:245650 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... |
OMIM:277450 |
Congenital Fibrinogen Deficiency |
|
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... |
ORPHA:335 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death |
OMIM:619602 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Dilated cardiomyop... |
ORPHA:79230 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Hyperechogenic kidneys |
OMIM:619111 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E... |
ORPHA:251004 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia |
OMIM:615415 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Epistaxis, Prolonged prothrombin time |
OMIM:610842 |
Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothrombin time |
ORPHA:49566 |
Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... |
OMIM:120330 |
Mixed Connective Tissue Disease |
|
Myocarditis, Purpura, Gastrointestinal hemorrhage, Pericarditis, Pulmonary arterial hypertension,... |
ORPHA:809 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kid... |
OMIM:232200 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death |
OMIM:612138 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glomerular filtration rate, Re... |
ORPHA:85450 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Cardiomyopathy, Neonatal death |
OMIM:619003 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly... |
OMIM:232220 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Neonatal death |
OMIM:618237 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Unilateral renal agenesis, Abnormality of the kidney, Hypospadias, Glycosuria, A... |
OMIM:137920 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Enlarged kidney... |
OMIM:617303 |
Aapoaiv Amyloidosis |
|
Chronic kidney disease, Hyperlipidemia, Abnormal renal medulla morphology, Renal interstitial amy... |
ORPHA:439232 |
Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Hypokalemia, Aminoaciduria, Hy... |
ORPHA:411634 |
Osteogenesis Imperfecta, Type Xvi |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:616229 |
Tyrosinemia, Type I |
|
Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Elevated alpha-fetoprotein, Elevated urinar... |
OMIM:276700 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... |
OMIM:274150 |
Macs Syndrome |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:613075 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage, Stillbirth, Neonatal death, Death in infancy |
ORPHA:85212 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Increased blo... |
ORPHA:49041 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Abnormal ureter morphology, Elevated circulating C-reactive protein conce... |
ORPHA:449395 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Abnormality of the urinary system, Hematur... |
ORPHA:91547 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... |
OMIM:235400 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death |
OMIM:601612 |
Diaphanospondylodysostosis |
|
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney |
OMIM:608022 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron |
OMIM:231100 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Renal dysplasia, Ureteropelvic junction obstruction, Elevated circ... |
OMIM:154230 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Neonatal death, Death in infancy |
OMIM:619334 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine, Urinary... |
OMIM:618885 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Glomeru... |
ORPHA:93126 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hepatomegaly, Hypoalbuminemia |
OMIM:608104 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia, Renal ... |
OMIM:208540 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Gingival bleeding, Large vessel vasculitis, Epistaxis, Small vessel vasculitis, Prolonged bleedin... |
OMIM:600903 |
Wiskott-Aldrich Syndrome |
|
Melena, Petechiae, Hematemesis, Gingival bleeding, Purpura, Large vessel vasculitis, Epistaxis, S... |
OMIM:301000 |
Hermansky-Pudlak Syndrome 2 |
|
Impaired ADP-induced platelet aggregation, Prolonged bleeding time |
OMIM:608233 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Decreased urine output, Elevated circulating creatinine concentration, Acute kidney injury, Hyper... |
ORPHA:542323 |
Fanconi Anemia, Complementation Group O |
|
Miscarriage, Neonatal death, Death in infancy |
OMIM:613390 |
Endocrine-Cerebroosteodysplasia |
|
Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Microphallus |
OMIM:612651 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death |
OMIM:615918 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death |
OMIM:610498 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Neonatal death, Death in infancy |
OMIM:616342 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Enlarged kidney, Tubulointerstitial fibrosis, Hype... |
ORPHA:79259 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Hematuria, Proteinuria |
ORPHA:90060 |
H Syndrome |
|
Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Hypertriglyceridemia |
ORPHA:168569 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death |
OMIM:224410 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Neonatal death |
OMIM:228940 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Hepatosplenomegaly, Heparan sulfate excretion in urine, Enlarged kidney, Urin... |
ORPHA:505248 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death |
OMIM:602199 |
Multiple Myeloma |
|
Nephrotic syndrome, Splenomegaly, Hyperproteinemia, Nephropathy, Elevated circulating creatinine ... |
ORPHA:29073 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in childhood, Intraventricular hemorrhage, Death in adolescence, Neonatal death, Death in i... |
OMIM:619055 |
Histidinemia |
|
Hyperhistidinemia, Histidinuria |
OMIM:235800 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Hepatomegaly, Renal cortical cysts, Pancreatic hyperplasia, Nephroblastoma, Enla... |
OMIM:130650 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney |
OMIM:200995 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney |
OMIM:613091 |
Kaposiform Lymphangiomatosis |
|
Multiple renal cysts, Hepatosplenomegaly, Splenomegaly, Enlarged kidney |
ORPHA:464329 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Prolonged prothrombin time |
OMIM:616483 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glomerular sclerosi... |
OMIM:223900 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Autosomal Recessive Polycystic Kidney Disease |
|
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatosplenomegaly, Recurrent urina... |
ORPHA:731 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Neonatal death, Death in infancy |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy |
OMIM:618835 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death |
OMIM:619817 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Splenomegaly, Increased serum beta-hexosaminidase, Enlarged kidney, Mucopolysacchar... |
OMIM:252500 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
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Death in childhood, Neonatal death, Death in infancy |
OMIM:245400 |
Dopamine Beta-Hydroxylase Deficiency |
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Elevated urinary dopamine, Elevated circulating creatinine concentration, Nocturia, Increased blo... |
ORPHA:230 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Elevated circulating creatinine concentration, Nephropathy, Proteinuria, Glomerular sclerosis |
ORPHA:247691 |
Boomerang Dysplasia |
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Neonatal death |
OMIM:112310 |
Glutamine Deficiency, Congenital |
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Neonatal death, Bradycardia |
OMIM:610015 |
Bacterial Toxic-Shock Syndrome |
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Hypocalcemia, Elevated circulating creatine kinase concentration, Recurrent urinary tract infecti... |
ORPHA:36234 |
Alg9-Cdg |
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Ureteral hypoplasia, Hepatomegaly, Hypoplasia of the bladder, Enlarged kidney, Hydronephrosis, Ab... |
ORPHA:79328 |
Faciocardiomelic Dysplasia, Lethal |
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Neonatal death |
OMIM:227270 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Stillbirth, Neonatal death |
OMIM:236500 |
Acute Interstitial Pneumonia |
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Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Lymphatic Malformation 12 |
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Death in adolescence, Neonatal death |
OMIM:620014 |
Hemorrhagic Fever-Renal Syndrome |
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Chronic kidney disease, Decreased glomerular filtration rate, Glomerulonephritis, Hematuria, Hype... |
ORPHA:340 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Beckwith-Wiedemann Syndrome |
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Nephrolithiasis, Hepatomegaly, Splenomegaly, Congenital megaureter, Elevated alpha-fetoprotein, N... |
ORPHA:116 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency |
OMIM:617478 |
Crimean-Congo Hemorrhagic Fever |
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Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... |
ORPHA:99827 |
Lethal Congenital Contracture Syndrome 1 |
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Neonatal death |
OMIM:253310 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hypokalemia, Hemoglobinuria, Elevated circulating creatinine concentration, Unconjugated hyperbil... |
ORPHA:90038 |
Thanatophoric Dysplasia, Type Ii |
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Neonatal death |
OMIM:187601 |
Acyl-Coa Dehydrogenase 9 Deficiency |
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Cerebellar hemorrhage, Sudden cardiac death, Dilated cardiomyopathy, Hypertrophic cardiomyopathy,... |
ORPHA:99901 |
Infantile Liver Failure Syndrome 3 |
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Death in childhood, Prolonged prothrombin time |
OMIM:618641 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
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Tricuspid regurgitation, Mitral regurgitation, Neonatal death, Dilated cardiomyopathy, Left ventr... |
OMIM:619167 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Prolonged prothrombin time, Death in infancy |
OMIM:617049 |
Leprechaunism |
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Hypokalemia, Hepatomegaly, Hypercalciuria, Long penis, Enlarged kidney, Enlarged ovaries, Increas... |
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 |
Noonan Syndrome 9 |
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Pulmonic stenosis, Prolonged prothrombin time |
OMIM:616559 |
Cog8-Cdg |
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Prolonged prothrombin time, Spontaneous hematomas |
ORPHA:95428 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Enlarged kidney, Renal malrotation |
ORPHA:500095 |
Classical Ehlers-Danlos Syndrome |
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Abnormal heart valve physiology, Bruising susceptibility, Orthostatic hypotension, Mitral regurgi... |
ORPHA:287 |
Hepatoportal Sclerosis |
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Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged prothrombin time, Portal hypertension |
ORPHA:64743 |
Liver Failure, Infantile, Transient |
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Prolonged prothrombin time, Death in infancy |
OMIM:613070 |
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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Global glomerulosclerosis, Hyperbilirubinemia, Enlarged kidney, Polycystic kidney dysplasia, Card... |
OMIM:300855 |
Meacham Syndrome |
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Horseshoe kidney, Enlarged kidney |
OMIM:608978 |
Myotubular Myopathy With Abnormal Genital Development |
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Neonatal death, Death in infancy |
OMIM:300219 |
Hellp Syndrome |
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Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage, Hypotension |
ORPHA:244242 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Dilated cardiomyopathy, Prolonged prothrombin time, Portal hypertension, Congestive heart failure |
ORPHA:367 |
Monosomy 13Q34 |
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Pulmonic stenosis, Epistaxis, Prolonged prothrombin time, Hematochezia |
ORPHA:96168 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypertrophic cardiomyopathy, Neonatal death |
OMIM:618810 |
Cardiogenic Shock |
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Oliguria, Elevated circulating creatinine concentration |
ORPHA:97292 |
Visceral Steatosis, Congenital |
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Abnormal bleeding, Neonatal death |
OMIM:228100 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Renal lymphocytic tubulitis, Elevated circulating C-reactive protein concentration, Aminoaciduria... |
ORPHA:91500 |
Heterotaxy, Visceral, 1, X-Linked |
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Hepatomegaly, Renal agenesis, Enlarged kidney, Horseshoe kidney, Cardiomegaly |
OMIM:306955 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
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Death in childhood, Arrhythmia, Neonatal death, Hypertension, Hypertrophic cardiomyopathy |
OMIM:614052 |
Marburg Hemorrhagic Fever |
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Petechiae, Excessive bleeding after a venipuncture, Bruising susceptibility, Abnormal bleeding, H... |
ORPHA:99826 |
Yellow Fever |
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Supraventricular arrhythmia, Hematemesis, Excessive bleeding after a venipuncture, Abnormal bleed... |
ORPHA:99829 |
Shwachman-Diamond Syndrome 2 |
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Death in childhood, Prolonged prothrombin time, Death in infancy |
OMIM:617941 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
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Death in childhood, Neonatal death, Death in infancy |
OMIM:609313 |
Congenital Disorder Of Glycosylation, Type It |
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Sudden cardiac death, Tachycardia, Dilated cardiomyopathy, Pulmonary arterial hypertension, Prolo... |
OMIM:614921 |
Sialuria |
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Prolonged prothrombin time |
ORPHA:3166 |
3-Methylglutaconic Aciduria, Type Viib |
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Abnormal bleeding, Prolonged prothrombin time, Congestive heart failure |
OMIM:616271 |
Congenital Disorder Of Glycosylation, Type Ia |
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Death in childhood, Cardiomyopathy, Death in infancy, Pericarditis, Prolonged prothrombin time |
OMIM:212065 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Dilated cardiomyopathy, Prolonged QT interval, Prolonged prothrombin time, Hypertrophic cardiomyo... |
ORPHA:71212 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hepatomegaly, Right ventricular hypertrophy, Splenomegaly, Hypospadias, Nephroblastoma, Enlarged ... |
OMIM:312870 |
Epidermolysis Bullosa, Lethal Acantholytic |
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Neonatal death |
OMIM:609638 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Cardiomyopathy, Prolonged prothrombin time |
ORPHA:88618 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
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Neonatal death |
OMIM:619859 |
Cardiac-Urogenital Syndrome |
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Tachycardia, Prolonged bleeding time |
OMIM:618280 |
Molybdenum Cofactor Deficiency, Complementation Group C |
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Neonatal death |
OMIM:615501 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Prolonged prothrombin time |
ORPHA:79303 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Neonatal death |
OMIM:619362 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Dark urine, Increased circulating ferritin concentration, Hepatomegaly, Hyperbilirubinemia, Splen... |
OMIM:619534 |
Superficial Siderosis |
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Abnormal bleeding, Subarachnoid hemorrhage, Persistent bleeding after trauma, Internal hemorrhage |
ORPHA:247245 |
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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Dilated cardiomyopathy, Cardiac arrest, Prolonged prothrombin time, Hypotension |
ORPHA:20 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Prolonged prothrombin time |
OMIM:267700 |
Celiac Disease, Susceptibility To, 1 |
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Prolonged prothrombin time |
OMIM:212750 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Prolonged prothrombin time |
OMIM:603553 |
Acute Liver Failure |
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Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Shock, Gastroin... |
ORPHA:90062 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
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Neonatal death, Death in infancy |
OMIM:610921 |
Alg12-Cdg |
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Prolonged prothrombin time |
ORPHA:79324 |
Hepatocellular Carcinoma |
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Internal hemorrhage, Budd-Chiari syndrome, Portal hypertension, Hypotension |
ORPHA:88673 |
Kasabach-Merritt Syndrome |
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Purpura, Prolonged prothrombin time, Petechiae |
ORPHA:2330 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Hypertrophic cardiomyopathy, Prolonged prothrombin time, Portal hypertension |
ORPHA:309854 |
Abetalipoproteinemia |
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Abnormal bleeding, Prolonged prothrombin time, Congestive heart failure |
ORPHA:14 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
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Prolonged prothrombin time |
OMIM:311250 |
Isolated Biliary Atresia |
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Prolonged prothrombin time |
ORPHA:30391 |
Primary Sclerosing Cholangitis |
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Palmar telangiectasia, Spider hemangioma, Portal hypertension, Prolonged prothrombin time, Conges... |
ORPHA:171 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged prothrombin time |
ORPHA:247598 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Corneal neovascularization, Prolonged prothrombin time |
ORPHA:404454 |
Tuberous Sclerosis Complex |
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Hypertension, Internal hemorrhage |
ORPHA:805 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Prolonged prothrombin time, Bleeding with minor or no trauma |
OMIM:619525 |
Vascular Ehlers-Danlos Syndrome |
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Telangiectasia of the skin, Bruising susceptibility, Abnormal bleeding, Renovascular hypertension... |
ORPHA:286 |