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Gene: Add2 MGI:87919

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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:
adducin 2
Synonyms:
2900072M03Rik

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 Add2 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 Add2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Anemia, Abnormal circulating ceruloplasmin concen... OMIM:615517
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Decreased t... ORPHA:300298
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Cyanosis, Transient Neonatal
Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia OMIM:613977
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Trimethylaminuria
Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Glutamate-Cysteine Ligase Deficiency
Jaundice, Reticulocytosis, Hepatosplenomegaly, Aminoaciduria, Hemolytic anemia ORPHA:33574
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Congenital hem... ORPHA:3202
Rh Deficiency Syndrome
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Spherocytosis, Hypoch... ORPHA:71275
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Reduced haptoglobin level, Hyperbilirubinemia, Anemia o... OMIM:613673
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Hypertension, Reticulocytosis, Episodic hemolyti... ORPHA:90044
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin... OMIM:618892
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Abnormality of iron homeostasis, Hepatomegaly, Cho... ORPHA:231222
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Erythroid hyperplasia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentrati... OMIM:301083
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... OMIM:224120
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Epistaxis, Sple... OMIM:314050
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia OMIM:189800
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Unconjugated hyperbilirubinemia, Reti... OMIM:300908
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia, Decreased circulating carnitine concentration OMIM:611283
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... OMIM:206200
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Malaria
Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration ORPHA:673
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced haptoglobin level, Cholelithiasis, Hepatomegaly, Redu... OMIM:266200
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Erythrocytosis, Familial, 1
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... OMIM:133100
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatomegaly, Iron deficiency anemia, Portal fibrosis, Increased serum bile acid concen... OMIM:616278
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr... ORPHA:98870
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, 3-Methylglutaconic aciduria, Anemia, Neutropenia OMIM:619835
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hypokalemia, Distal renal tubular acidosis, Reticulocytosis, Nephrocalcinosis, Hepat... OMIM:611590
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Decreased serum creatinine, Arrhythmia, Thrombocytopenia, Microangiopathic hemol... ORPHA:54057
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem... OMIM:263300
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Abnormality of iron homeostasis, Hepatomegaly, Hypochro... ORPHA:231214
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplen... OMIM:608898
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Anemia, Oroticaciduria, Renal tubular acidosis, Hyperammonemia, Acanthocytos... OMIM:616457
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic hemolytic anemi... OMIM:210250
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulat... OMIM:614946
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Reticulocytosis, Erythroid hyperplasia, Renal insufficiency, Hemo... OMIM:300653
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Epistaxis, Acanthocytosis, Congenital thrombocyt... OMIM:300367
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Thrombocytopenia, Raynaud phenomenon, Abnormal platelet aggregation ORPHA:401945
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Incr... ORPHA:232
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Increased ... ORPHA:101330
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal... ORPHA:288
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Focal Segmental Glomerulosclerosis 1
Anemia, Hypertension, Hyperlipidemia, Ascites, Hypoalbuminemia OMIM:603278
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Abnormality of iron homeostasis, Anemia,... ORPHA:75563
Glycogen Storage Disease Vii
Increased muscle glycogen content, Jaundice, Exercise-induced myoglobinuria, Hematuria, Cholelith... OMIM:232800
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Increas... OMIM:613313
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, M... OMIM:235400
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp... OMIM:615285
Nephronophthisis
Anemia, Renal insufficiency ORPHA:655
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly ORPHA:100025
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Orotic Aciduria
Hematuria, Oroticaciduria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... OMIM:620121
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Renal ins... ORPHA:713
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemoglobinuria, Hemolytic anemia, Reticulocytosis OMIM:266120
Aceruloplasminemia
Hypochromic microcytic anemia, Decreased circulating ceruloplasmin concentration, Decreased circu... ORPHA:48818
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Transient ischemic attack, Reticulocytosis, Increased blood urea nitrogen, Prolonged ne... OMIM:274150
Beta-Thalassemia
Abnormality of iron homeostasis, Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenome... ORPHA:848
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Target ce... OMIM:603903
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me... OMIM:617948
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Congestive heart failure, Increased total bilirubin, Splenomegaly, T... ORPHA:90037
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... OMIM:618963
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Bence Jones Proteinu... ORPHA:100024
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Decreased circulat... OMIM:616959
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Lymphadenopathy, Elevated circulating... OMIM:614034
Corticosteroid-Binding Globulin Deficiency
Anemia, Hypokalemia, Hypertension, Reduced circulating cortisol-binding globulin concentration, H... OMIM:611489
Rh-Null, Regulator Type
Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Periportal f... ORPHA:64743
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration
Decreased LDL cholesterol concentration, Acanthocytosis OMIM:607236
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte adenylate kinase activity, Hemolytic anemia OMIM:612631
8P11.2 Deletion Syndrome
Spherocytosis, Splenomegaly, Hemolytic anemia, Hypoplasia of penis ORPHA:251066
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total... OMIM:619868
Atransferrinemia
Abnormality of the liver, Congestive heart failure, Hypochromic anemia, Atransferrinemia OMIM:209300
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Hepatomegaly, Low-output congestive... ORPHA:97292
Potocki-Shaffer Syndrome
Hypertension, Anemia ORPHA:52022
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia OMIM:617408
Relapsing Fever
Jaundice, Anemia, Elevated circulating C-reactive protein concentration, Hypotension, Leukocytosi... ORPHA:91547
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... OMIM:612926
Lathosterolosis
Bilobate gallbladder, Anisopoikilocytosis, Intrahepatic cholestasis, Hyperbilirubinemia, Elevated... OMIM:607330
Hydrops Fetalis, Nonimmune
Congestive heart failure, Anemia OMIM:236750
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Thrombocytopenia, Raynaud phenomenon OMIM:615750
Rhabdoid Tumor
Anemia, Lymphadenopathy, Hypertension, Internal hemorrhage, Thrombocytopenia, Hypercalcemia, Neop... ORPHA:69077
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... OMIM:612924
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc... OMIM:603552
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Hepatomega... OMIM:607616
Pseudo-Torch Syndrome 3
Anemia, Hypertension, Leukocytosis, Lymphadenitis, Cerebral hemorrhage, Cardiomegaly, Increased c... OMIM:618886
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Abnormal cardiac... ORPHA:98826
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Retinal hemorrhage, Thrombocytopenia, Splenomegaly, Conjugated hy... ORPHA:294
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody l... OMIM:613101
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... OMIM:612925
Protoporphyria, Erythropoietic, 2
Increased erythrocyte protoporphyrin concentration, Iron deficiency anemia OMIM:618015
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Lathosterolosis
Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Thrombocytopeni... ORPHA:46059
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Pancreatitis, Hypokalemia, Hypertension, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirub... ORPHA:90038
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, He... OMIM:614470
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Ascites, Hypertrophic cardiomyopathy ORPHA:295
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve s... OMIM:230800
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Short Stature With Microcephaly And Distinctive Facies
Anisopoikilocytosis, Anemia OMIM:615789
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Epistaxis, Anemia OMIM:616176
Mcleod Syndrome
Hepatomegaly, Reduced haptoglobin level, Atrial fibrillation, Cardiomyopathy, Elevated circulatin... OMIM:300842
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Myocardial infarction OMIM:608320
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Gastrointestinal hemorrhage, Decr... ORPHA:247598
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Erythrocytosis, Familial, 2
Increased red blood cell mass, Hypotension, Pulmonary arterial hypertension, Increased circulatin... OMIM:263400
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Leukocytosis, Unconjuga... OMIM:618278
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Conjugated... OMIM:269920
Abetalipoproteinemia
Acanthocytosis, Abetalipoproteinemia OMIM:200100
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Hypertension, Splenomegaly, Tachycardia OMIM:121300
Polycystic Kidney Disease 5
Enlarged kidney, Hypertension, Hepatosplenomegaly OMIM:617610
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Hypertension, Ascites, Pulmonary arterial hypertension... OMIM:617021
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Systemic Lupus Erythematosus 17
Hypertensive crisis, Leukopenia, Raynaud phenomenon, Thrombocytopenia, Lymphopenia, Autoimmune th... OMIM:301080
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Anemia ORPHA:1192
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Congenital Aortic Valve Stenosis
Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv... ORPHA:3093
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Diamond-Blackfan Anemia 12
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... OMIM:615550
Hemochromatosis, Type 3
Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Increased circulating... OMIM:604250
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Sudden cardiac death... OMIM:610947
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Anemia, Hyperuricemia ORPHA:371
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased... OMIM:209950
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Hypercho... OMIM:615703
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Anemia, Cerebral hemorrhage OMIM:614514
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Increased circulating brain natriuretic peptide concentration, Reduced left ventr... OMIM:620734
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Prolonged QT interval, Hypocalcemia, Sinus tachycardia, Abnormal pulse pressure, Hy... ORPHA:466650
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating alanine amino... OMIM:615558
Paroxysmal Nocturnal Hemoglobinuria
Jaundice, Anemia, Reduced haptoglobin level, Pancytopenia, Hypertension, Abnormal erythrocyte enz... ORPHA:447
Takayasu Arteritis
Anemia, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertension, Hypertensiv... ORPHA:3287
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG... OMIM:619220
Congenital Analbuminemia
Increased circulating antibody level, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Low pulse... ORPHA:86816
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Amyloidosis, Familial Visceral
Hypertension, Cholestasis, Splenomegaly, Hepatomegaly OMIM:105200
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Orthostatic Hypotension 2
Anemia, Orthostatic hypotension OMIM:618182
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... OMIM:301310
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act... OMIM:611881
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Elevated transferrin saturation, Increased circulating ferritin ... OMIM:606069
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Thrombocytopenia, Monocytosis, Anemia, Neutropenia OMIM:620534
Transaldolase Deficiency
Cirrhosis, Anemia, Abnormal circulating glutamine concentration, Increased serum bile acid concen... ORPHA:101028
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Parti... OMIM:620632
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis... OMIM:267700
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Hypospadias, Reticulocytopenia, Leukopenia OMIM:612528
Formiminoglutamic Aciduria
Abnormal circulating histidine concentration, Megaloblastic anemia, Anemia, Abnormal concentratio... ORPHA:51208
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega... OMIM:214900
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Reduced haptoglobin level, Anemia, Hemolytic-uremic syndrome, Schistocytosis, Moderate proteinuri... OMIM:301110
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia, Hepatomegaly, Anemia, Renal insufficiency ORPHA:28
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin, Autoimmune hemolytic anemia ORPHA:90036
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci... OMIM:620481
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Increased hepatocellular lipid droplets,... ORPHA:71
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis... OMIM:608885
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia, Proteinuria, Renal insufficiency ORPHA:2668
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Anemia, Hyperuricemia ORPHA:510
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Splenomegaly ORPHA:37748
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly ORPHA:1046
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Anemia, Ascites, Hypercalcemia, Thrombocytopenia, Renal insufficiency ORPHA:2123
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Anemia, Left bundle... ORPHA:563
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Thrombocytosis, Angina pectoris, Hyper... ORPHA:729
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Acanthocytosis OMIM:200150
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine OMIM:231900
Familial Benign Copper Deficiency
Anemia, Decreased circulating copper concentration ORPHA:1551
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Preeclampsia
Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertension, Abnormality of... ORPHA:275555
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration OMIM:121270
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Nephrotic syndrome, Thrombocytopenia, Proteinuria... OMIM:615008
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... OMIM:619774
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Positive ferric chloride test, Elevated urinary formiminoglutamic acid leve... OMIM:229100
Immunodeficiency 32B
Hepatomegaly, Anemia, Abnormal circulating IgG level, Eosinophilia, Neutrophilia, Hypoalbuminemia... OMIM:226990
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hypocellularity, Epistax... ORPHA:88
Immunodeficiency 46
Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenop... OMIM:603553
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... ORPHA:507
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Increased total bilirubin, A... ORPHA:2924
Sneddon Syndrome
Ischemic stroke, Hypertension, Cerebral hemorrhage, Lymphopenia, Decreased circulating total IgM OMIM:182410
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hyp... OMIM:613092
Hypermanganesemia With Dystonia 1
Cirrhosis, Hepatomegaly, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, ... OMIM:613280
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Ziegler-Huang Syndrome
Macrocytic anemia, Persistence of hemoglobin F, Bone marrow hypocellularity, Micropenis, Neutropenia OMIM:620501
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Epistaxis, Inguinal lymphadenopathy, Abnormal circulating C-reactive protein concentratio... OMIM:620514
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Anemia OMIM:618728
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con... OMIM:617243
Tempi Syndrome
Increased circulating IgG level, Ascites, Polycythemia, Intracranial hemorrhage, Increased hemato... ORPHA:284227
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia OMIM:610090
Protoporphyria, Erythropoietic, X-Linked
Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con... OMIM:300752
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Splenomegaly, Stage 5 chronic kidney disease, Hepatosplenom... OMIM:615559
Rotor Syndrome
Hyperbilirubinemia, Jaundice, Intermittent jaundice, Conjugated hyperbilirubinemia ORPHA:3111
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple... OMIM:614480
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension OMIM:161900
Stiff-Person Syndrome
Tachycardia, Hypertension, Anemia OMIM:184850
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia, Proteinuria, ... OMIM:245900
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Complete or near-complete absence of specific antibody respon... OMIM:620282
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating... OMIM:618398
Senior-Loken Syndrome 4
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Anemia OMIM:606996
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
Kasabach-Merritt Phenomenon
Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th... ORPHA:2330
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk... OMIM:618116
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Arteriosclerosis, Severe Juvenile
Hypertension, Anemia, Myocardial infarction OMIM:208060
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Macrocytic anemia,... OMIM:615438
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hyperbilirubin... OMIM:619256
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Bone marrow hypocellularity, Leukopenia, Monocytosis OMIM:616871
Aceruloplasminemia
Aceruloplasminemia, Increased circulating ferritin concentration, Anemia, Decreased circulating i... OMIM:604290
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Hyperten... ORPHA:2169
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Ascites,... OMIM:619991
Nephronophthisis 1
Hypertension, Anemia OMIM:256100
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Ventricular arrhythmia, Microangiopathic hemolytic anemia OMIM:141000
Autoinflammation With Infantile Enterocolitis
Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Thrombocytopenia, Sp... OMIM:616050
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Senior-Boichis Syndrome
Cirrhosis, Anemia, Hypertension, Cholestasis, Ascites, Portal hypertension, Increased total bilir... ORPHA:84081
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Abetalipoproteinemia
Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentratio... ORPHA:14
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... OMIM:609628
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula... ORPHA:699
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Increased circulating NT-... ORPHA:85451
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Homocystinuria, M... OMIM:277410
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen... ORPHA:858
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia OMIM:237500
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hemolytic anemia OMIM:609153
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom... ORPHA:882
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level, Decrea... OMIM:620603
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly, Renal insuffi... ORPHA:79312
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Periportal fibrosis, Hyperbilirubinemia, Ascites, Portal hypertension, He... OMIM:251880
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Transcobalamin Ii Deficiency
Methylmalonic aciduria, Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopen... OMIM:275350
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Cholestasis, Abnormal serum bil... ORPHA:79303
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Babesiosis
Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti... ORPHA:108
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia ORPHA:464453
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Coach Syndrome 3
Nephronophthisis, Portal fibrosis, Anemia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:619113
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Renal cyst, Focal segmental glomerulosclerosis, Chronic kidney disease, El... OMIM:617056
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria OMIM:230350
Lipoyltransferase 1 Deficiency
Bradycardia, Pulmonary arterial hypertension, Increased total bilirubin, Hyperglutaminemia, Hyper... OMIM:616299
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Acute he... OMIM:278000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Sple... OMIM:618495
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased ci... OMIM:300635
Wolcott-Rallison Syndrome
Jaundice, Hepatomegaly, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Ascites, Hyper... ORPHA:1667
Reticular Dysgenesis
Anemia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnor... ORPHA:33355
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Increased circulating IgG level, Nephritis, Autoimmune thrombocytopenia, Autoimmune... OMIM:603909
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... OMIM:308240
Gaisböck Syndrome
Hypertriglyceridemia, Increased hematocrit, Elevated diastolic blood pressure, Elevated plasma ce... ORPHA:90041
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Fabry Disease
Congestive heart failure, Anemia, Angina pectoris, Hypertension, Transient ischemic attack, Left ... OMIM:301500
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:300853
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure ORPHA:75233
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonary embolism ORPHA:1345
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Increased urinary ... ORPHA:79277
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Cirrhosis, Mediastinal lymphadenopathy, Anemia, Pancytopenia, Bone marrow hypoce... OMIM:614742
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypersegmentation of neutrophil nuclei, Meg... OMIM:617780
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ... OMIM:613812
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Combined Saposin Deficiency
Abnormal glycosphingolipid metabolism, Hepatomegaly, Splenomegaly OMIM:611721
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Pancreatitis, Macrocytic anemia, Cardiomyopathy, Hyperammonemia, Thrombocyt... ORPHA:27
Liddle Syndrome
Hypertension, Cerebral ischemia, Hypokalemia, Arrhythmia ORPHA:526
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating C-reactive protein co... ORPHA:54251
Carney Triad
Gastrointestinal hemorrhage, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertension, ... ORPHA:139411
Nephronophthisis 9
Polyuria, Nephronophthisis, Anemia, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Dark urine, Hemolytic anemia OMIM:301015
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Normochromic anemia, Hypertension, Cardiomyopathy... ORPHA:247691
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Increased serum pyruvate, Cardiomyopathy, Hyperalaninemia, Splenomegaly, Hyper... OMIM:619046
Hereditary Orotic Aciduria
Oroticaciduria, Anemia, Impaired T cell function, Abnormality of the ureter, Orotic acid crystall... ORPHA:30
Neuroblastoma, Susceptibility To, 1
Hypertension, Anemia, Abdominal mass OMIM:256700
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Renal tubular dysfunction, Hyperammonemia, Thrombocytopenia, ... ORPHA:289916
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, De... OMIM:226300
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:235555
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Pancytopenia, Hepatosplenomegaly, Thromboc... OMIM:604416
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly ORPHA:172
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Hereditary Cryohydrocytosis With Reduced Stomatin
Jaundice, Spontaneous hemolytic crises, Hepatosplenomegaly, Conjugated hyperbilirubinemia, Stomat... ORPHA:168577
Cinca Syndrome
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep... OMIM:607115
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Caroli Syndrome
Hematemesis, Cirrhosis, Jaundice, Intrahepatic cholestasis, Melena, Cholangitis, Pancreatitis, He... ORPHA:480520
Familial Cervical Artery Dissection
Hypertension, Transient ischemic attack, Cerebral ischemia, Recurrent cerebral hemorrhage, Subara... ORPHA:36382
Intermediate Generalized Junctional Epidermolysis Bullosa
Anemia ORPHA:79402
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Anemia, Hypertrophic cardiomyopathy OMIM:620135
Hyperlysinemia, Type I
Argininuria, Anemia, Hyperlysinemia, Hypoornithinemia, Ornithinuria, Hyperlysinuria, Homocitrulli... OMIM:238700
Immunodeficiency 102
Hepatomegaly, Anemia, Decreased circulating total IgM, Partial absence of specific antibody respo... OMIM:301082
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Hyperuricemia, Hypertension, Hypotension, Elevated circulating creatinine concentration OMIM:174000
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hyper... ORPHA:79126
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Livedoid Vasculopathy
Abnormal circulating lipid concentration, Ischemic stroke, Anemia, Pancytopenia, Hyperhomocystine... ORPHA:542643
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu... ORPHA:457077
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Macrophage Activation Syndrome
Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ... ORPHA:158061
Sandhoff Disease
Abnormal glycosphingolipid metabolism, Hepatomegaly, Splenomegaly ORPHA:796
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia ORPHA:2598
Marburg Hemorrhagic Fever
Increased circulating antibody level, Bradycardia, Reticulocytosis, Pericarditis, Hyperammonemia,... ORPHA:99826
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me... ORPHA:231226
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem... OMIM:259720
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertension, Left ventricular hypertro... OMIM:540000
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hypertension ORPHA:71529
Amme Complex
Elliptocytosis, Hematuria OMIM:300194
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Overlap Myositis
Abnormal circulating lipid concentration, Hypertension, Elevated circulating creatine kinase conc... ORPHA:206572
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt... ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt... ORPHA:529799
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Ischemic stroke, Anemia, Pancreatitis, Abnormal proportion of naive CD4... ORPHA:1830
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop... OMIM:610333
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Prolonged QT interval, Anemia, Hepatomegaly, Pancytopenia, Thromboc... ORPHA:398124
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, P... ORPHA:98850
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Hereditary Amyloidosis With Primary Renal Involvement
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Lymphadenopathy, Abn... ORPHA:85450
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:619151
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hypertension, Pancreatitis, Hepatomegaly ORPHA:79084
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration OMIM:618838
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypertension, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercal... ORPHA:251004
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyperbilirubinemia, Reticulo... OMIM:557000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pan... OMIM:615688
Oslam Syndrome
Anemia OMIM:165660
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Hyperbilirubinemia, Bile duct proliferation, ... OMIM:210500
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Portal fibrosis, Macrovesicular hepati... OMIM:605814
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Increased circulating antibody level, Sclerosin... ORPHA:2137
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Porphyria, Acute Intermittent
Tachycardia, Reduced erythrocyte porphobilinogen deaminase activity, Hypertension, Hepatocellular... OMIM:176000
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Dec... ORPHA:96180
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Jaundice, Ascites, Hepatomegaly ORPHA:890
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Hypertension, Myocardial infarction ORPHA:54370
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... ORPHA:3193
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Porphyria Variegata
Anemia, Hypertension, Hepatocellular carcinoma, Hyponatremia, Abnormal circulating porphyrin conc... ORPHA:79473
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatic fibrosis, Hypertension, Hepatic steatosis ORPHA:280356
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Hypertension, Tr... OMIM:242900
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly OMIM:620151
Reynolds Syndrome
Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Calcinosis, Lip telangiectasia, Hyperbilirub... OMIM:613471
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia... OMIM:614300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Hyperbilirubinemia, Ascites,... ORPHA:464321
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Anemia ORPHA:2325
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis, Abnormal circulating porphyrin concentration... ORPHA:79278
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Caspase 8 Deficiency
Lymphadenopathy, Complete or near-complete absence of specific antibody response to unconjugated ... OMIM:607271
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Anemia, Increased blood pressure, Hypertension, Acute pancreatitis, Ascites, Portal... OMIM:619487
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio... ORPHA:905
Neuroblastoma
Anemia, Lymphadenopathy, Hypertension, Abdominal mass, Thrombocytopenia, Increased circulating fe... ORPHA:635
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hypertension, Acute pancreatitis, Hepatomegaly OMIM:608600
Car T Cell Therapy-Associated Cytokine Release Syndrome
Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hyperbilirubinemia, Hypo... ORPHA:542323
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen,... OMIM:613845
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Splenomegaly, ... OMIM:607765
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Hypertension, Cardiomyopathy, Arrhythmia ORPHA:3222
Prolidase Deficiency
Hepatomegaly, Anemia, Increased circulating antibody level, Hyperimidodipeptiduria, Prolonged neo... OMIM:170100
Hemochromatosis, Type 2A
Congestive heart failure, Cirrhosis, Hepatomegaly, Cardiomyopathy, Increased circulating iron con... OMIM:602390
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hepatic steat... OMIM:612526
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Bile duct proliferation, Hepatosplenomegaly ORPHA:79302
Arthrogryposis Multiplex Congenita 5
Poikilocytosis, Normocytic anemia, Cardiac arrest, Acanthocytosis OMIM:618947
Fibronectin Glomerulopathy
Hypoalbuminemia, Hypertension, Cerebral hemorrhage ORPHA:84090
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit... OMIM:127550
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemi... OMIM:261750
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Hypospadias, Methemoglobinemia OMIM:250790
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count... OMIM:619802
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating C-reactive protein concentration, Prolonged QTc interval, Elevated c... ORPHA:231111
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia... ORPHA:79301
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperurice... ORPHA:79083
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hypertension, Hepatic steatosis OMIM:613877
Lead Poisoning
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased circulatin... ORPHA:330015
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Ascites, Polycystic liver disease OMIM:174050
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu... OMIM:240500
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Coach Syndrome 2
Portal fibrosis, Hypertension, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulatin... OMIM:619111
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hypertension, Hyperlipidemia, Elevated circulating crea... OMIM:615980
Senior-Loken Syndrome
Hypertension, Congenital hepatic fibrosis ORPHA:3156
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis ORPHA:3318
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Anemia OMIM:620366
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Hypophosphatemic rickets, Reduced left ventricular ejection fraction, S... OMIM:614473
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Microscopic hematuria, Elliptocytosis, Renal insufficiency, Proteinuria ORPHA:86818
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl... OMIM:613490
Anti-Glomerular Basement Membrane Disease
Hematuria, Anemia, Proteinuria, Renal insufficiency ORPHA:375
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Renal Hypoplasia, Bilateral
Hyperkalemia, Hyponatremia, Hypertension, Anemia ORPHA:97362
Imerslund-Grasbeck Syndrome 2
Anemia, Megaloblastic anemia, Proteinuria, Renal insufficiency, Moderate albuminuria OMIM:618882
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis, Hepatic failure OMIM:177000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Increased circulating IgE level... OMIM:304790
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:290
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Graft Versus Host Disease
Jaundice, Hemophagocytosis, Lymphadenopathy, Acute hepatitis, Hyperbilirubinemia, Chronic hepatit... ORPHA:39812
C1Q Deficiency 2
Vasculitis in the skin, Anemia, Elevated circulating C-reactive protein concentration OMIM:620321
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased circula... OMIM:615122
Pediatric-Onset Graves Disease
Congestive heart failure, Jaundice, Hepatomegaly, Atrial fibrillation, Neutropenia in presence of... ORPHA:525731
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Hypertension, Left ventricular hypertrophy OMIM:616733
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperuricemia, Hypertension, Leukocytosis, Hypotension, Hyperammonemia, Thrombocytosis ORPHA:134
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Isolated Agammaglobulinemia
Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lymphocyte morp... ORPHA:229717
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Hypertension, Increased serum pyruvate, Hypertrophic cardiomyopathy, Di... ORPHA:1349
Seckel Syndrome 10
Hypertriglyceridemia, Congestive heart failure, Hypertension, Acute pancreatitis, Elevated hemogl... OMIM:617253
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Hypertension ORPHA:567544
Tularemia
Cervical lymphadenopathy, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Increased circula... ORPHA:3392
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h... ORPHA:567983
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He... OMIM:618935
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ... OMIM:257200
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Decreased circulating antibody level, Anemia, Erythroid hypoplasia OMIM:618165
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein ... OMIM:620376
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Increased circulating antibody level, Abnormal... ORPHA:400
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy, Anemia, Elevated circulating C-reactive protein ... OMIM:608068
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa... ORPHA:75234
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration OMIM:611762
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc... OMIM:613179
Gilbert Syndrome
Jaundice, Unconjugated hyperbilirubinemia OMIM:143500
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Anemia, Urethral stricture OMIM:226670
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Hepatomegaly, Anemia, Methylmalonic ac... OMIM:251110
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Increased circulating antibody level, Ascites, Leukopeni... ORPHA:77259
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly... ORPHA:540
Immunodeficiency 47
Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice... OMIM:300972
Ollier Disease
Lymphangioma, Anemia ORPHA:296
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Sneddon Syndrome
Hypertension, Intracranial hemorrhage ORPHA:820
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Anemia, Congenital Dyserythropoietic, Type Iiia
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hemosiderinuria, Anemia of inadequate pro... OMIM:105600
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Hypercalcemia, Hyp... OMIM:239200
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome... ORPHA:79477
Dermotrichic Syndrome
Anemia, Aminoaciduria ORPHA:99688
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transam... OMIM:617591
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Hypertension, Increased C-peptide level, Hepatic steatosis OMIM:615238
Nephronophthisis 4
Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, ... OMIM:606966
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv... ORPHA:514
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl... OMIM:185070
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,... OMIM:616100
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Methanol Poisoning
Hypertension, Hyperlipidemia, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral ... ORPHA:31825
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased circulating total IgM, Decrea... ORPHA:90362
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Cardiomyopathy, Hypotension, Leukocytosis, C... ORPHA:292
Hydatidiform Mole
Anemia ORPHA:99927
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... ORPHA:83469
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Horseshoe kidney, Ne... OMIM:612562
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Lymphadenopathy, Inc... OMIM:612783
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased c... OMIM:620210
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro... OMIM:616217
Griscelli Syndrome
Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circ... ORPHA:381
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Hyperbilirubinemia, Prolonged neona... OMIM:214950
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Hypertension, Cardiomyopathy, Pericarditis... ORPHA:767
Grange Syndrome
Hypertension, Aortic regurgitation ORPHA:79094
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Hepatosplenomegaly, Sple... OMIM:606003
Yellow Fever
Hematemesis, Jaundice, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, H... ORPHA:99829
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Hypospadias, Abnormality of the ureter ORPHA:2522
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Ascites, Leukocytosis, Hematochezi... ORPHA:2070
Immunodeficiency 22
Anemia, Decreased circulating IgE, Capillary leak, Ascites, Pericarditis, Decreased circulating I... OMIM:615758
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Neoplasm of the pancreas, Hypertension, Polycythemia, Pancreatic cysts OMIM:193300
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Hypertension OMIM:616069
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Orthostatic hypotens... ORPHA:186
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit... OMIM:243300
Intermediate Osteopetrosis
Hepatosplenomegaly, Anemia ORPHA:210110
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Hypospadias ORPHA:98791
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension OMIM:145260
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy... ORPHA:1414
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Renal tubular acidosis, Elevated circulating cr... ORPHA:2785
Neuroleptic Malignant Syndrome
Hyperkalemia, Thrombocytosis, Bradycardia, Hypocalcemia, Hyperuricemia, Hypertension, Hypotension... ORPHA:94093
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Vesicoureteral reflux, Elevated hepati... OMIM:300868
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatocellular necrosis, Prolonged neona... OMIM:231100
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Hepatomeg... ORPHA:829
Pseudohypoaldosteronism Type 2
Hyperkalemia, Hypertension ORPHA:757
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Intracranial hemorrhage, Heart murmur... ORPHA:163979
Diffuse Alveolar Hemorrhage
Anemia, Leukocytosis, Thrombocytopenia, Elevated circulating creatinine concentration, Pulmonary ... ORPHA:90060
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... OMIM:617052
Lcat Deficiency
Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo... ORPHA:650
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Cerebral hemorrhage,... ORPHA:136
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Intrahepatic biliary atresia, Hepatic ... OMIM:208085
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Decreased circulating antibody level, Leukocytosis OMIM:618042
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypertension, Hepatic steatosis ORPHA:363400
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu... ORPHA:1451
Aicardi-Goutieres Syndrome 7
Hematemesis, Increased circulating ferritin concentration, Hepatomegaly, Anemia, Increased circul... OMIM:615846
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Neutropenia, Bone marrow hypocellularity, Thrombocytopenia, Aminoaciduria, Ketonuria OMIM:614520
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocyt... ORPHA:47
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Increased serum bil... OMIM:602347
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Anemia, Noncompaction cardiomyopathy, B lymphocytopenia, Reticulocytope... ORPHA:508542
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an... ORPHA:397596
Propionic Acidemia
Cerebellar hemorrhage, Hepatomegaly, Anemia, Pancreatitis, Pancytopenia, Cardiomyopathy, Hyperamm... OMIM:606054
Combined Oxidative Phosphorylation Deficiency 42
Elevated circulating creatine kinase concentration, Cardiomyopathy, Anemia OMIM:618839
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary... ORPHA:90033
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy OMIM:618835
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Angina pectoris, Splenome... ORPHA:79292
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Increased to... OMIM:618528
Muckle-Wells Syndrome
Hepatomegaly, Anemia, Nephrotic syndrome, Splenomegaly, Nephropathy ORPHA:575
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Aminoaciduria, Splenomegaly, Hepatic failure ORPHA:664
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Pelvic kidney, Anemia OMIM:617244
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Glucagonoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, No... ORPHA:97280
C3 Glomerulopathy
Elevated circulating creatinine concentration, Hypertension, Paraproteinemia ORPHA:329918
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Hyperuricemia, Hypertension, Hepatocellular carcinom... OMIM:232220
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul... ORPHA:79124
Shwachman-Diamond Syndrome
Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Chro... ORPHA:811
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Abnormal abdomen morphology, Intrahepatic bile duct dilatation, Hyperten... OMIM:216360
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hypertriglyceridemia, Hepatic steatosis, Jaundice, Hepatomegaly, Dec... OMIM:619573
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulat... ORPHA:29073
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... ORPHA:47612
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia ORPHA:3405
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transaminase concentra... OMIM:260400
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Anemia, Portal hypertension, Lymphopenia OMIM:620365
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperuricemia, Hyperten... OMIM:604367
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Increased circulating IgG level, I... OMIM:615934
Good Syndrome
Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod... ORPHA:169105
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyperten... ORPHA:71493
Castleman Disease
Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Elevated circulating C-reactive p... ORPHA:160
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Increased total iron binding capacity, Hepatomegaly, Elevated circulating hepatic trans... ORPHA:309854
Primary Hyperoxaluria Type 1
Calcinosis, Hematuria, Anemia, Decreased glomerular filtration rate, Hyperoxaluria, Dysuria, Neph... ORPHA:93598
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Large vessel vasculitis, Elevated circulating C-reactive protein concentration... ORPHA:49041
Nephronophthisis 18
Cholestasis, Hypertension, Portal fibrosis OMIM:615862
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Hardikar Syndrome
Hematemesis, Cirrhosis, Jaundice, Hepatomegaly, Cholangitis, Hyperbilirubinemia, Intrahepatic bil... OMIM:301068
Wilson Disease
Cirrhosis, Jaundice, Portal fibrosis, Anemia, Hepatomegaly, Decreased circulating ceruloplasmin c... OMIM:277900
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Impaired renal concentrating abi... OMIM:266900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, H... ORPHA:264580
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Normocytic anemia, Aortic regurgitation, Melena, Hypotension, Pulmon... ORPHA:99147
Nephronophthisis 11
Polyuria, Nephronophthisis, Anemia, Hepatic fibrosis, Stage 5 chronic kidney disease, Renal corti... OMIM:613550
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:617388
Diamond-Blackfan Anemia 10
Anemia, Ectopic kidney, Macrocytic anemia, Reticulocytopenia, Steroid-responsive anemia OMIM:613309
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure, Cirrhosis, Jaundice, Hypertyrosinemia, Microvesicular hepatic steatosis... OMIM:617156
Cirrhosis, Familial
Cirrhosis, Jaundice, Increased level of propylene glycol in blood, Fulminant hepatitis, Hypertens... OMIM:215600
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypertension, Portal hypertensio... OMIM:263200
Solitary Rectal Ulcer Syndrome
Hematochezia, Anemia ORPHA:209964
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen... OMIM:610377
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F OMIM:619769
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly OMIM:259700
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Microscopic hematuria, Splenomegaly, P... ORPHA:77297
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Hyperkalemia, Anemia, Melena, Capillary leak, Hypertension, Hypotension, Internal he... ORPHA:340
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Elevated circulating alanine aminotransferase conce... OMIM:615486
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Anemia OMIM:244460
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Hypertension OMIM:605115
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259710
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Fumarase Deficiency
Hyperbilirubinemia, Polycythemia, Intrahepatic cholestasis, Ascites OMIM:606812
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Tachycardia, Chroni... ORPHA:98849
Pituitary Apoplexy
Hyponatremia, Hypertension, Hypotension, Normochromic anemia ORPHA:95613
Osteootohepatoenteric Syndrome
Portal fibrosis, Increased serum bile acid concentration, Hypokalemia, Anemia, Microvesicular hep... OMIM:619377
Cronkhite-Canada Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:2930
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Antenatal intracerebral hemorrhage, Macrovesicular hepatic steatos... OMIM:608836
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly, Distal renal tubular acidosis OMIM:259730
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Ascites, Thrombocytopenia, Hypoalbum... OMIM:608104
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Hepatomegaly, Anemia, Lymphadenopathy, Hypoproteinemia, Cardiomyopathy,... OMIM:615895
Congenital Factor Ii Deficiency
Joint hemorrhage, Epistaxis, Anemia, Intracranial hemorrhage ORPHA:325
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Pancytopenia, Vasculitis, Hypertension, Raynaud phenomenon, Autoimmu... ORPHA:1855
Juvenile Paget Disease
Hypertension, Hyperuricemia ORPHA:2801
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excretion of sialy... OMIM:256550
Myopathy With Lactic Acidosis, Hereditary
Anemia, Elevated circulating creatine kinase concentration, Sideroblastic anemia, Leukopenia, Pal... OMIM:255125
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Ascites, Epistaxis, Splenomegaly, Leukopenia, Diffuse alv... ORPHA:99827
Nephronophthisis 2
Hyperkalemia, Pulmonary insufficiency, Enlarged kidney, Hypertension, Elevated circulating creati... OMIM:602088
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Ischemic stroke, Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage ORPHA:280679
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Neonatal hyperbili... ORPHA:95716
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Hypertension ORPHA:2833
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Narcolepsy Type 1
Syncope, Hypertension ORPHA:2073
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Anemia, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Decre... OMIM:612301
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Elevated circulati... ORPHA:79230
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Hepatomegaly, Anemia, Methy... OMIM:251100
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Hypertension OMIM:103900
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
Liver Failure, Infantile, Transient
Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steatosis, Hyper... OMIM:613070
Simple Cryoglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Monoclonal elevation of IgG, Chronic lymph... ORPHA:91139
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Fabry Disease
Abnormal circulating lipid concentration, Congestive heart failure, Anemia, Angina pectoris, Hype... ORPHA:324
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Hyper... ORPHA:94080
Von Hippel-Lindau Disease
Myocarditis, Neoplasm of the pancreas, Pancreatic islet cell adenoma, Hypertension, Cardiomyopath... ORPHA:892
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Fanconi Anemia, Complementation Group E
Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Horseshoe kidney, Leuk... OMIM:600901
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Jaundice, Hepatomegaly, Hypokalemia, Hypertension, Elevated circulating alpha-fetoprotein concent... OMIM:613095
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi... ORPHA:95715
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,... OMIM:264800
Nephroblastoma
Neoplasm of the liver, Hypertension, Lymphadenopathy ORPHA:654
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypokalemia, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventri... ORPHA:251274
Tyrosinemia, Type I
Enlarged kidney, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, Ascit... OMIM:276700
Recessive Dystrophic Epidermolysis Bullosa Inversa
Anemia, Urethral stricture ORPHA:79409
Alport Syndrome 1, X-Linked
Hypertension, Thrombocytopenia OMIM:301050
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Hypertension, Anemia, Hepatomegaly ORPHA:90321
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Enlarged kidney, Hepatocellular adenoma, Anemia, Pancreatitis, Hepatomegaly... ORPHA:79259
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Anemia, Hypokalemia OMIM:175500
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:235200
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Cholangitis, Cholelithiasis, Sclerosing cholangitis, Live... ORPHA:69663
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglycinemia, Anemia, Hyperglutamatemia, Hyperalaninemia, Hyperammonemia, Low plasma citrullin... OMIM:620358
Glycogen Storage Disease Ic
Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Spider hemangioma, Hypertension, Hepatocellula... OMIM:232240
Liddle Syndrome 2
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:618126
Thymoma
Aplastic anemia, Decreased circulating antibody level, Pure red cell aplasia, Imbalanced hemoglob... ORPHA:99867
Morgagni-Stewart-Morel Syndrome
Hypertension, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Hypo... ORPHA:3452
Riboflavin Transporter Deficiency
Hypertension ORPHA:97229
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hypertension, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hypertension, Hyperchloremia OMIM:614495
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Hypertension OMIM:600666
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Increased circulating antibody level, Increase... ORPHA:85443
Progressive Supranuclear Palsy
Abnormal synaptic transmission, Memory impairment, Dementia, Cognitive impairment ORPHA:683
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Anemia, Renal tubular dysfunction, Hyperphosphaturia, Gly... ORPHA:436271
Alopecia Universalis
Abnormal circulating lipid concentration, Hypertension ORPHA:701
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Hypertension, Pulmonary arterial hypertension, Right ventricular ... OMIM:178600
Familial Hyperaldosteronism Type I
Hypokalemia, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:403
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Anemia, Hypochromic microcytic anemia, Renal insufficiency, Cholestasi... ORPHA:440713
Common Variable Immunodeficiency
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Decreased circulating a... ORPHA:1572
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... OMIM:214500
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Familial Hyperaldosteronism Type Ii
Hypokalemia, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:404
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Positive reg... OMIM:171420
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:218030
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circu... OMIM:602450
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulati... ORPHA:79240
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul... OMIM:617303
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morphology, Spl... ORPHA:3162
Fanconi Anemia, Complementation Group A
Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Horseshoe kidney, Leuk... OMIM:227650
Pantothenate Kinase-Associated Neurodegeneration
Acanthocytosis, Abetalipoproteinemia ORPHA:157850
Familial Cerebral Saccular Aneurysm
Hypertension, Transient ischemic attack, Subarachnoid hemorrhage, Intracranial hemorrhage ORPHA:231160
Dopamine Beta-Hydroxylase Deficiency
Anemia, Orthostatic hypotension, Orthostatic syncope, Increased blood urea nitrogen, Syncope, Ele... ORPHA:230
Liddle Syndrome 1
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:177200
Icf Syndrome
Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Bazex Syndrome
Anemia ORPHA:166113
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly OMIM:609981
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ... ORPHA:234
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Vasculitis, Hypertension, Transient ischemic attack, Hyper... ORPHA:183
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Cholestasis, Ascites, Biliary hyperpl... ORPHA:731
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Hypertension, Mitral regurgitation OMIM:173900
Fanconi Anemia, Complementation Group C
Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocyto... OMIM:227645
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Decreased level of coenzyme Q10 in skeletal muscle, Pancytopenia, Recurrent myoglobinuria... OMIM:607426
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypochromic microcytic anemia, Anemia, Increased serum pyruvate, Hyperalaninemia, Mild proteinuri... OMIM:619147
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Decreased ... OMIM:102700
Fanconi Renotubular Syndrome 5
Hypertension, Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy, Left ventricular hypertrophy OMIM:102200
Amoebiasis Due To Entamoeba Histolytica
Congestive heart failure, Liver abscess, Anemia, Leukocytosis, Hypoalbuminemia, Constrictive peri... ORPHA:67
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Anemia, Hyperphosphaturia, Glycosuria, Renal Fanconi synd... OMIM:220110
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hypertension, Hyperchloremia OMIM:614496
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia OMIM:605479
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Jaundice, Hepatomegaly, Aortic re... OMIM:614866
Alstrom Syndrome
Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Hepatome... OMIM:203800
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Anemia, Methylmalonic acidemia, Pancytopenia, Hyperhomocystinemia, Cystathioninuria... OMIM:277380
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hyp... OMIM:618641
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased speci... OMIM:614576
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Anemia, Joint hemorrhage, Epistaxis, Intracrani... ORPHA:169802
Denys-Drash Syndrome
Hypertension ORPHA:220
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Hypercalciuria, Elliptocytosis, Nephrocalcinosis, Anemia OMIM:300990
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hypertension, Hyperchloremia OMIM:614492
Isolated Biliary Atresia
Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr... ORPHA:30391
Joubert Syndrome 33
Splenomegaly OMIM:617767
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Bone marrow hypocellularity ORPHA:3322
Acute Promyelocytic Leukemia
Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Epistaxis, Leukopenia, Thrombocytopenia, Dif... ORPHA:520
Sandifer Syndrome
Hematemesis, Anemia ORPHA:71272
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hyperuricemia, Hyperalaninemia, Neonatal hyperbilirubinemia, Tachycardia, Hepatic s... ORPHA:348
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension OMIM:613870
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Cholangitis, Hyperbilirubinemia, Hypertension, Cholestasis, Biliar... OMIM:613610
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Anemia, Pancytopenia, Hypocalcemia, Cholestasis, Ascites, Portal hypertension, Bile du... OMIM:613658
Tangier Disease
Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, H... ORPHA:31150
Hurler-Scheie Syndrome
Abnormality of the tonsils, Hepatomegaly, Splenomegaly ORPHA:93476
Systemic Lupus Erythematosus
Lymphadenopathy, Hypertension, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Hemolytic anemia ORPHA:536
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Abnormality of iron homeostasis, Abnormality of the pancreas, Hepatomegaly, ... OMIM:222470
Abcd Syndrome
Polycythemia OMIM:600501
Sepsis In Premature Infants
Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Bradycardi... ORPHA:90051
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level, Hypertension, Epistaxis, Intracranial hemorrhage,... ORPHA:231625
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hepatic cysts, Hypertension OMIM:618061
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Tetanus
Tachycardia, Hypertension, Elevated circulating creatine kinase concentration, Bradycardia ORPHA:3299
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hypertension OMIM:123550
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, Abnormally low T... OMIM:608203
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Hypophosphatemic rickets, Anemia, Proximal tubulopathy, Organic a... OMIM:619743
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Splenomegaly OMIM:228000
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Elevated circulating ... ORPHA:470
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Hepatomegaly, Anemia, Increased level of hippuric acid in urine, Decreased cir... OMIM:246450
Glutaric Aciduria Iii
Hypertension OMIM:231690
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension OMIM:201910
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Hypokalemia OMIM:174900
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hyperkalemia, Pancreatitis, Hypocalcemia, Hypertension, Leukocytosis, Hypertensive c... ORPHA:544482
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Hypertension, Pulmonary arterial hypertension OMIM:613320
Mirage Syndrome
Hyperkalemia, Anemia, Hypospadias, Microphallus, Hyponatremia, Hypoplastic spleen, Leukopenia, Th... OMIM:617053
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Abnormal... ORPHA:79086
Ogden Syndrome
Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Microvesicul... OMIM:300855
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Anemia, Elevated circulating C-reactive protein concentration ORPHA:324964
Alveolar Echinococcosis
Decreased liver function, Jaundice, Anemia, Cholangitis, Liver abscess, Increased circulating ant... ORPHA:284
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Hypertension, Pulmonary arterial hypertension, Le... OMIM:615474
Adams-Oliver Syndrome 6
Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension OMIM:616589
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Hypertension, Pulmonary arterial hypertension, Epistaxis, Intracranial hemorrhage, S... ORPHA:369929
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Alkaptonuria
Black pigment gallstones, Hypertension, Aortic valve stenosis, Mitral stenosis, Hemolytic anemia,... ORPHA:56
Fanconi Anemia, Complementation Group P
Pelvic kidney, Anemia, Horseshoe kidney, Pancytopenia OMIM:613951
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration, Cholelithiasis OMIM:614886
Mercury Poisoning
Tachycardia, Hypertension, Hypotension, Hypokalemia ORPHA:330021
Mirizzi Syndrome
Jaundice, Pancreatitis, Cholelithiasis, Hyperbilirubinemia, Cholesterol gallstones, Tachycardia, ... ORPHA:521219
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemia ORPHA:329971
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy... OMIM:619418
Alagille Syndrome 2
Pulmonic stenosis, Cholestatic liver disease, Hypertension, Cholestasis OMIM:610205
Arima Syndrome
Cirrhosis, Hepatomegaly, Anemia, Hypertension, Hepatic fibrosis, Hepatic steatosis OMIM:243910
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Anemia, Hepatomegaly, Hyperuricemia, Cardiac arrest, Hypotension, Leukocytosis, Acute p... ORPHA:20
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Right ventricular hypert... OMIM:613404
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Hyperammonemia, Leukopenia,... OMIM:222700
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Anemia, Transient hypophosphatemia OMIM:127000
Pseudo-Torch Syndrome 1
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:251290
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Intrahepatic cholestasis, Increased serum bile acid concentration OMIM:619685
Degcags Syndrome
Hepatomegaly, Anemia, Iron deficiency anemia, Pancytopenia, Hyperbilirubinemia, Abnormal spleen m... OMIM:619488
Intrahepatic Cholestasis Of Pregnancy
Jaundice, Increased serum bile acid concentration, Hyperbilirubinemia, Ascites, Cholecystitis, Ab... ORPHA:69665
Legionnaires Disease
Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow hypocellular... ORPHA:549
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Hypertension, Hyponatremia, Splenomegaly OMIM:617913
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level, Hypertension, Epistaxis, Palpitations ORPHA:231580
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypertension, Epistaxis, Hypokalemia ORPHA:231632
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Q Fever
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, I... ORPHA:781
Blau Syndrome
Large vessel vasculitis, Anemia, Lymphadenopathy, Hypertension, Pulmonary arterial hypertension, ... ORPHA:90340
Distal Xq28 Microduplication Syndrome
Epistaxis, Neonatal hyperbilirubinemia ORPHA:293939
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly, Hepatocellular carcinoma,... ORPHA:465508
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Anemia, Abnormality of the pancreas, Lymphopenia ORPHA:935
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Hypercholesterolemia... OMIM:615812
Infant Botulism
Hyponatremia, Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Ectopic kidney, Pancytopenia, Pelvic kidney, Reticulocytopenia, Bone ma... OMIM:227646
Fanconi-Bickel Syndrome
Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid concentration, Hypokalemia, Hyp... OMIM:227810
Syndromic Diarrhea
Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Panhypogammaglobulinemia, Polycystic ki... ORPHA:84064
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypophosphatemic rickets, Hypertension, Cardiomegaly, Dilated cardiomyo... OMIM:208000
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Elevated circulating uroporphyrin concentratio... OMIM:263700
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Decreased liver function, Jaundice, Anemia, Elevated circulat... ORPHA:275761
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Cogan Syndrome
Large vessel vasculitis, Anemia, Aortic regurgitation, Vasculitis, Leukocytosis, Thrombocytosis ORPHA:1467
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici... ORPHA:37042
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit... ORPHA:131
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypertension, Hypokalemia, Left ventricular hypertrophy ORPHA:320
Gaucher Disease Type 3
Hepatomegaly, Anemia, Increased circulating antibody level, Hematuria, Pancytopenia, Thrombocytop... ORPHA:77261
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:613677
Ochoa Syndrome
Hypertension ORPHA:2704
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Ascites, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating... OMIM:617049
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Bone marrow hypocellularity, Leukopenia... OMIM:613990
Extracranial Carotid Artery Aneurysm
Arteritis, Vasculitis, Hypertension, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:494424
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Monoclonal immunoglobulin M prote... ORPHA:33226
Monosomy 18P
Hypertension ORPHA:1598
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hepatomegaly, Generalized aminoaciduria, Hypocalcemia, Leukocytosis, Hypop... ORPHA:289157
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Periportal fibrosis OMIM:619484
Renal Nutcracker Syndrome
Syncope, Anemia, Orthostatic hypotension, Tachycardia ORPHA:71273
Hurler Syndrome
Hepatomegaly, Angina pectoris, Abnormality of the tonsils, Hypertension, Cardiomyopathy, Splenome... ORPHA:93473
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Decreased liver function, Elevated circulating hepatic transaminase concent... ORPHA:167
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration ORPHA:85414
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonary arterial hyperten... OMIM:612541
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomegaly, Proteinuria,... ORPHA:91138
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hyperglutamatemia, Increased serum pyr... ORPHA:3008
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Renal-Hepatic-Pancreatic Dysplasia 1
Stage 5 chronic kidney disease, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney... OMIM:208540
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Iron deficiency anemia, Impaired platelet aggregat... OMIM:618372
Mixed Connective Tissue Disease
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Nephropathy... ORPHA:809
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962
Fanconi Anemia, Complementation Group F
Anemia, Pelvic kidney, Vesicoureteral reflux, Microphallus, Bone marrow hypocellularity, Renal hy... OMIM:603467
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Intrahepatic cholestasis, Jaundic... OMIM:614887
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Penile freckling OMIM:605309
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Impaired ADP-induced platelet aggregation, Hepatosp... OMIM:608233
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pancreatitis, Elevated circulating C-reactive protein concentration,... ORPHA:900
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Neonatal hyperbilirubinemia, Pulmonary arterial hypertension, Neutropenia ORPHA:163956
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Increased circulating antibody level, Visceromegaly, Ascites, Poly... ORPHA:2905
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils ORPHA:379
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Ascite... OMIM:615710
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Prolonged neonatal jaundice, Neonatal hyperbil... ORPHA:90673
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Cholestasis OMIM:609734
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage OMIM:300845
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Hypertension, Increased blood urea nitrogen, Tachycardia, Elevated circu... OMIM:223900
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hydronephrosis, Anemia, Abnormal hemoglobin, Hypoplasia of penis ORPHA:847
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Pancreatitis, Hyperuricemia, Hypertension, Hepatocellular carcinom... OMIM:232200
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Impaired T cell function, Decreased serum zinc OMIM:201100
Choreoacanthocytosis
Hepatomegaly, Abnormal erythrocyte enzyme concentration or activity, Elevated circulating creatin... ORPHA:2388
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... OMIM:257220
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Splenomegaly, Cholangitis, Supraventricular arrhythmia, Transient ischemic attac... ORPHA:3260
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ... OMIM:608013
Birk-Landau-Perez Syndrome
Hyperkalemia, Increased circulating creatine kinase MB isoform, Hypertension OMIM:617595
Neurodegeneration With Brain Iron Accumulation 1
Urinary incontinence, Acanthocytosis OMIM:234200
Hyper-Igd Syndrome
Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Lymphadenitis, Increased circulat... OMIM:260920
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly OMIM:618541
Agammaglobulinemia, X-Linked
Anemia, Decreased circulating IgE, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepat... OMIM:300755
Wiskott-Aldrich Syndrome
Hematemesis, Abnormal platelet function, Epistaxis, Hematochezia, Abnormal platelet morphology, L... ORPHA:906
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Jaundice, Hyperammonemia, Conjugated hyperbilirubinemia, Decreased seru... OMIM:617093
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Pancreatitis OMIM:610475
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS complex, Cardiomegaly, Pul... ORPHA:75565
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Aortic Arch Interruption
Absent pulse, Congestive heart failure, Blood pressure substantially higher in arms than legs, Ao... ORPHA:2299
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Positive reg... OMIM:171300
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Interlobular bile duct destruction,... ORPHA:562639
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Hyper... ORPHA:276621
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Anemia, Cholangitis, Hypertension, Cholestasis, Hepatosplenomegaly, Congenital hepa... OMIM:266920
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension OMIM:615830
Sweet Syndrome
Small vessel vasculitis, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein ... ORPHA:3243
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Arrhythmia OMIM:614052
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension OMIM:615954
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgA level, Anemia, Decreased circulating I... OMIM:620040
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Hyperlipidemia, Ascites, Hypoalbuminemia, Pulmonary embolism ORPHA:567546
Developmental And Epileptic Encephalopathy 111
Sinus tachycardia, Hypertension, Premature ventricular contraction OMIM:620504
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Abnormal circulating thyroglobulin concentration, Prolonged neonatal jaundice, Neona... ORPHA:90674
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Hypospadias, Reduced alpha/beta synthesis ratio, H... OMIM:301040
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Ascites, Left-to-right shunt, Biliary cirrhosis, ... OMIM:619534
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233710
Gastrointestinal Stromal Tumor
Abnormality of the liver, Gastrointestinal hemorrhage, Anemia ORPHA:44890
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Alagille Syndrome
Hepatomegaly, Hypertension, Cholestasis, Telangiectasia of the skin, Reduced number of intrahepat... ORPHA:52
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension, Transient hyperphenylalaninemia ORPHA:98808
Frasier Syndrome
Hypertension ORPHA:347
Ethylene Glycol Poisoning
Hyperkalemia, Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypocalcemia,... ORPHA:31826
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... ORPHA:90068
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut... OMIM:238600
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension OMIM:619758
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ... ORPHA:50918
Lymphatic Malformation 7
Anemia, Ascites OMIM:617300
Familial Dysautonomia
Orthostatic hypotension, Abnormal peritoneum morphology, Hypertension, Hyponatremia, Tachycardia ORPHA:1764
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension OMIM:219080
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Elevated circulating C-reactive protein concentration, Hepatomegaly OMIM:612852
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Restrictive cardiomyopathy, Retinal h... ORPHA:758
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233690
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Jaundice, Polycystic liver disease, Bile duct proliferation, Conjugated ... OMIM:208500
Joubert Syndrome 14
Hypertension, Intracranial hemorrhage OMIM:614424
Serotonin Syndrome
Tachycardia, Hypertension, Hypotension ORPHA:43116
Fructose Intolerance, Hereditary
Bicarbonaturia, Gastrointestinal hemorrhage, Hepatomegaly, Jaundice, Cirrhosis, Hyperuricemia, Hy... OMIM:229600
Scheie Syndrome
Mucopolysacchariduria, Hepatomegaly, Splenomegaly ORPHA:93474
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia... OMIM:151660
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Congestive heart failure, Hypercholesterolemia, Hypertension, Aortic valve ... ORPHA:363618
Scorpion Envenomation
Myocarditis, Congestive heart failure, Increased circulating NT-proBNP concentration, Hypokalemia... ORPHA:466677
Poliomyelitis
Hypovolemic shock, Hypertension, Hypotension, Absent tonsils ORPHA:2912
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hypertension, Polycystic liver disease, Hepatic cysts, Elevated circulating crea... ORPHA:730
Aorta Coarctation
Cardiomegaly, Congestive heart failure, Hypertension, Pulmonary arterial hypertension ORPHA:1457
Werner Syndrome
Congestive heart failure, Hypertension, Telangiectasia of the skin, Myocardial infarction ORPHA:902
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Xfe Progeroid Syndrome
Hypoalbuminemia, Hypertension, Ascites OMIM:610965
Adenine Phosphoribosyltransferase Deficiency
Atrial fibrillation, Hypertension ORPHA:976
Gaucher Disease, Type Iiic
Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231005
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Telangiectasia of the skin, Hypertensive crisis, Pulmonary arterial hyp... ORPHA:220393
Niemann-Pick Disease, Type C2
Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi... OMIM:607625
Adrenocortical Carcinoma
Palpitations, Hypertension, Hypokalemia ORPHA:1501
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Anemia, Hypocalcemic tetany ORPHA:93325
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypertension, Transient ischemic attack, Hypovolemia, Suba... ORPHA:91387
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Postinfectious Vasculitis
Ischemic stroke, Increased circulating antibody level, Elevated circulating C-reactive protein co... ORPHA:48435
Dyskeratosis Congenita
Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Bone marrow hypocellularity, Thrombocy... ORPHA:1775
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Hepatomegaly, Hypertension, Cerebral ischemia, Intracranial hemorrha... ORPHA:394
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Hypokalemia OMIM:219090
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right ventricular hypertrophy OMIM:616028
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Anemia, Epistaxis, Hematochezia, Mitral regurgitation, Telang... OMIM:175050
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Hypertension, Chronic pancreatitis OMIM:613159
Alport Syndrome 3A, Autosomal Dominant
Hypertension, Hypophosphatemia, Azotemia OMIM:104200
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... OMIM:610717
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Hypertension ORPHA:371428
Multiple Endocrine Neoplasia, Type Iia
Palpitations, Hypertension OMIM:171400
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulati... OMIM:619525
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Gastrointestinal hemorrhage, Nasal mucosa telangiectasia, Epistaxis, Chole... ORPHA:774
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Abnormality of the pancreas ORPHA:1555
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Hyper... ORPHA:29072
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Decreased circulating total IgM, Anemia, Lymphadenopathy, Elevat... OMIM:619381
Hepatoerythropoietic Porphyria
Red urine, Purple urine, Red-brown urine, Abnormal circulating porphyrin concentration, Splenomeg... ORPHA:95159
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt... ORPHA:97214
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Increased circulating renin level, Hypertension, Hypomagnesemia, Hypokalemia OMIM:612780
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Caudal Regression Syndrome
Hypertension ORPHA:3027
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd... OMIM:249100
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Mucopolysaccharidosis Type 2, Severe Form
Hypertension, Cardiomyopathy, Arrhythmia, Hepatosplenomegaly, Splenomegaly, Enlarged tonsils, Hea... ORPHA:217085
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Polycystic kidney ... OMIM:610199
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Splenomegaly ORPHA:667
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperlipidemia, Hypertension, Hepatic steatosis ORPHA:189427
Arterial Tortuosity Syndrome
Ischemic stroke, Aortic regurgitation, Hypertension, Aortic valve stenosis, Telangiectases of the... OMIM:208050
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Hypertrophic cardiomyopathy,... ORPHA:3342
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan... OMIM:187300
Mucopolysaccharidosis Type 2, Attenuated Form
Hypertension, Cardiomyopathy, Arrhythmia, Hepatosplenomegaly, Splenomegaly, Enlarged tonsils, Hea... ORPHA:217093
Brucellosis
Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein con... ORPHA:1304
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension OMIM:610489
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level, Hypertension, Intracranial hemorrhage ORPHA:90795
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Pulmonary arterial hypertension, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Ri... OMIM:620186
Wagro Syndrome
Hypertension OMIM:612469
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Congestive heart failure, Jaundice, Aortic regurgitation, Abnormal abdomen morphology, Hyperbilir... OMIM:619475
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary arterial hypertension, Mitr... OMIM:614008
Gaucher Disease
Decreased HDL cholesterol concentration, Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancyto... ORPHA:355
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail... ORPHA:171
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Hypertension OMIM:617729
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia OMIM:614653
Cushing Disease
Decreased eosinophil count, Hypertension, Leukocytosis, Capillary fragility, Lymphopenia, Myocard... ORPHA:96253
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid... OMIM:306400
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Bradycardia OMIM:218700
Acute Intermittent Porphyria
Tachycardia, Hyponatremia, Hypertension, Hepatocellular carcinoma ORPHA:79276
Papillorenal Syndrome
Elevated circulating creatinine concentration, Hypertension OMIM:120330
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:269700
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:77293
Oligomeganephronia
Elevated circulating creatinine concentration, Hypertension ORPHA:2260
Renal Hypoplasia
Hypertension ORPHA:93101
Cockayne Syndrome A
Hepatomegaly, Hypertension, Thymic hormone decreased, Splenomegaly, Arrhythmia OMIM:216400
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Mucopolysaccharidosis Type 2
Hepatomegaly, Hypertension, Cardiomyopathy, Enlarged tonsils, Splenomegaly, Arrhythmia ORPHA:580
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Hyperlipidemia, Elevated circulating creatine... ORPHA:565612
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Cockayne Syndrome B
Hepatomegaly, Hypertension, Splenomegaly, Arrhythmia OMIM:133540
Smooth Muscle Dysfunction Syndrome
Hypertension, Pulmonary arterial hypertension OMIM:613834
Combined Oxidative Phosphorylation Deficiency 15
Hypertension, Shortened PR interval, Wolff-Parkinson-White syndrome OMIM:614947
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Splenomegaly ORPHA:53715
Apert Syndrome
Hypertension ORPHA:87
Alexander Disease
Hypotension, Hypertension, Sudden cardiac death ORPHA:58
Familial Osteodysplasia, Anderson Type
Hypertension, Hyperuricemia ORPHA:2769
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Hypertension, Abnormal pl... ORPHA:79443
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Prolonged neonatal jaundice, Hypertension, Hyperbilirubinemia OMIM:210710
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension ORPHA:93256
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypertension, Hypokalemia ORPHA:90793
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Hepatic fibrosis, Hypertension, Left ventricular hypertrophy OMIM:209900
Posterior Urethral Valve
Hypertension ORPHA:93110
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Neonatal hyperbilirubinemia OMIM:300896
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Hypertension, Hypertrophic cardiomyopathy, El... OMIM:270400
Hallermann-Streiff Syndrome
Hypertension, Pulmonary arterial hypertension, Telangiectasia OMIM:234100
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat... OMIM:600886
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:202010
Renal Agenesis
Hypertension ORPHA:411709
Cystinosis, Nephropathic
Generalized aminoaciduria, Renal Fanconi syndrome, Hypophosphatemia, Splenomegaly, Stage 5 chroni... OMIM:219800
Nelson Syndrome
Hypokalemia, Hypertension, Intracranial hemorrhage ORPHA:199244
Cockayne Syndrome
Hepatomegaly, Hyperuricemia, Hypertension, Retinal hemorrhage, Splenomegaly ORPHA:191
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Angina pectoris, Increased LDL cholesterol concentration, Hypertension, Hyp... ORPHA:391665
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Cholelithiasis, Hypocalcemia, Abnormalit... ORPHA:567
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Hypokalemia, Supraventricular arrhythmia, Hypertension, Hypotension, Ve... ORPHA:91347
Prader-Willi Syndrome
Hypertension ORPHA:739
Denys-Drash Syndrome
Enlarged kidney, Hypertension OMIM:194080
Alport Syndrome
Hypertension ORPHA:63
Marshall-Smith Syndrome
Premature ventricular contraction, Hypertension, Pulmonary arterial hypertension OMIM:602535
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypertension, Aortic regurgitation, Heart murmur ORPHA:402075
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatomegaly, Hypocalcemia, Ascites, Portal hypertension, Hepatic fibro... OMIM:243800
Orofaciodigital Syndrome I
Hepatic cysts, Hepatic fibrosis, Hypertension, Pancreatic cysts OMIM:311200
Acute Transverse Myelitis
Orthostatic hypotension, Hypertension, Subarachnoid hemorrhage, Decreased circulating copper conc... ORPHA:139417
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Hypertensi... ORPHA:99889
Generalized Glucocorticoid Resistance Syndrome
Hypertension, Hypokalemia ORPHA:786
Digeorge Syndrome
Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Hypocalcemia, Hypoplasia ... OMIM:188400
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Mediastinal lymphadenopathy, Increased circulating antibody level, Pancytopenia, Hy... OMIM:181000
Hunter-Macdonald Syndrome
Hypertension, Mitral regurgitation, Aortic regurgitation OMIM:611962
Hypomagnesemia 3, Renal
Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric... OMIM:248250
Myhre Syndrome
Hypertension ORPHA:2588
Au-Kline Syndrome
Hypertension OMIM:616580
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Orthostatic hypotension, Hypertension, Pulmonary arterial hypertension, Rec... OMIM:606721
Blau Syndrome
Pericarditis, Hypertension OMIM:186580
Goodpasture Syndrome
Anemia, Increased blood urea nitrogen, Cylindruria, Macroscopic hematuria, Proteinuria, Renal ins... OMIM:233450
Multicystic Dysplastic Kidney
Enlarged kidney, Hypertension, Abdominal mass ORPHA:1851
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Aortic regurgitation, Angina pectoris, Hypertension, Trans... ORPHA:740
Xq21 Microdeletion Syndrome
Hypertension ORPHA:1435
Multiple Endocrine Neoplasia Type 2
Hypertension associated with pheochromocytoma, Hypertensive crisis, Hypercalcemia, Palpitations, ... ORPHA:653
Orofaciodigital Syndrome Type 1
Pancreatic cysts, Hypertension, Exocrine pancreatic insufficiency, Abnormality of the pancreas ORPHA:2750
Neurofibromatosis Type 1
Hypertension, Leukemia, Chronic myelogenous leukemia ORPHA:636
Scalp-Ear-Nipple Syndrome
Congestive heart failure, Hypertension, Supraventricular tachycardia OMIM:181270
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypertension, Enlarged polycystic ovaries ORPHA:95699
Renal Dysplasia
Pelvic mass, Enlarged kidney, Hypertension, Abdominal mass ORPHA:93108
Pierson Syndrome
Hypertension, Hypoproteinemia, Retinal hemorrhage OMIM:609049
17Q11 Microdeletion Syndrome
Hypertension, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Pulmonic stenosis, Re... ORPHA:97685
Scalp-Ear-Nipple Syndrome
Hypertension ORPHA:2036
Adams-Oliver Syndrome 1
Pulmonic stenosis, Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension OMIM:100300
Tuberous Sclerosis Complex
Hepatic cysts, Pulmonary lymphangiomyomatosis, Hypertension, Internal hemorrhage ORPHA:805
Multiple Endocrine Neoplasia Type 1
Hematemesis, Neoplasm of the pancreas, Melena, Hypertension, Insulinoma, Shortened QT interval, H... ORPHA:652
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypertension, Hypertrophic cardiomyopathy, Hyperammonemia, Left... OMIM:220111
Myhre Syndrome
Aortic valve stenosis, Hypertension OMIM:139210
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypophosphatemic rickets, Hypertension, Weak pulse, Transi... ORPHA:51608
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia OMIM:620305
Williams Syndrome
Abnormal circulating lipid concentration, Congestive heart failure, Cholelithiasis, Hypertension,... ORPHA:904
Atypical Werner Syndrome
Hypertriglyceridemia, Congestive heart failure, Hypertension, Aortic valve stenosis, Telangiectas... ORPHA:79474
Yunis-Varon Syndrome
Hypertension, Cardiomyopathy, Pulmonary arterial hypertension, Renovascular hypertension, Cardiom... ORPHA:3472
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertension, Cardiomyopathy, Hepa... ORPHA:110
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Cirrhosis, Prolonged QT interval, Hypertension, Biliary cirrhosis, Hep... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Cirrhosis, Prolonged QT interval, Hypertension, Biliary cirrhosis, Hep... ORPHA:99228
Monosomy X
Cholestatic liver disease, Cirrhosis, Prolonged QT interval, Hypertension, Biliary cirrhosis, Hep... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Cirrhosis, Prolonged QT interval, Hypertension, Biliary cirrhosis, Hep... ORPHA:881
Acromegaly
Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:963
Somatomammotropinoma
Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:314769
Neurofibromatosis, Type I
Hypertension OMIM:162200
Keutel Syndrome
Pulmonic stenosis, Hypertension OMIM:245150
Alström Syndrome
Hypertriglyceridemia, Congestive heart failure, Cirrhosis, Hepatomegaly, Abnormal liver physiolog... ORPHA:64
Williams-Beuren Syndrome
Hypertension, Portal hypertension, Pulmonic stenosis, Hypercalcemia, Mitral regurgitation, Suprav... OMIM:194050
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Hyponatremia, Decreased circulating renin level, Hypertension OMIM:201750
Carney Complex
Congestive heart failure, Hypertension, Neoplasm of the pancreas, Hepatocellular carcinoma ORPHA:1359
Vascular Ehlers-Danlos Syndrome
Hypokalemia, Hypertension, Transient ischemic attack, Internal hemorrhage, Renovascular hypertens... ORPHA:286
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Corneal neovascularization, Hypertension OMIM:308205

Histopathology

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

There is no histopathology data for Add2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Add2.

No publications found that use IMPC mice or data for Add2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Add2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Add2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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