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Gene: Sptb MGI:98387

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Gene Summary

Name:
spectrin beta, erythrocytic
Synonyms:
LOC383567,  Spnb1,  Spnb-1,  spectrin R,  brain erythroid spectrin (235E),  D330027P03Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Sptbem1(IMPC)J HOM   Early adult 0.00
decreased mean corpuscular hemoglobin Sptbem1(IMPC)J HET Early adult 1.15×10-15
decreased exploration in new environment Sptbem1(IMPC)J HET Early adult 2.32×10-06
embryonic lethality prior to organogenesis Sptbem1(IMPC)J HOM   E9.5 0.00
decreased mean corpuscular volume Sptbem1(IMPC)J HET Early adult 1.80×10-09

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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.

Eye Morphology

Images Ophthalmoscopy

3 Images

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Electroretinography 3

Fundus file

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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X-ray

XRay Images Skull Lateral Orientation

7 Images

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X-ray

XRay Images Forepaw

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Sptb 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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega... OMIM:237800
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos... OMIM:615631
Cyanosis, Transient Neonatal
Reticulocytosis, Cyanosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice OMIM:613977
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con... ORPHA:3203
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... OMIM:615285
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced... OMIM:224100
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly, Intermittent jaundice OMIM:179700
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E... OMIM:224120
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity OMIM:612631
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co... ORPHA:3202
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
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, Increased circulating lactate de... OMIM:230450
Harderoporphyria
Splenomegaly, Reticulocytosis, Cutaneous photosensitivity, Hepatomegaly, Prolonged neonatal jaund... OMIM:618892
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage... OMIM:617610
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Abnormal circulating lactate dehydrogenase concentration, Anemia of inadequat... ORPHA:67044
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol... OMIM:266200
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha granules, Retic... OMIM:314050
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Rh Deficiency Syndrome
Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Re... ORPHA:71275
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... OMIM:194380
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
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
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... OMIM:615234
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:300298
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Increased circulating lactate dehydrogenase concentration, Abnormal ... ORPHA:86841
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Glutathione Synthetase Deficiency
Hemolytic anemia, Reduced glutathione synthetase level ORPHA:32
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:235400
Beta-Thalassemia Major
Hepatic fibrosis, Hypoplasia of the musculature, Dilated cardiomyopathy, Reduced hemoglobin A, Ex... ORPHA:231214
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp... ORPHA:824
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... OMIM:620010
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Petechiae, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Heinz bodies OMIM:614164
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Elliptocytosis, Splenomegaly, Re... ORPHA:288
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Elliptocytosis 3
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... OMIM:617948
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Megaloblastic Anemia, Folate-Responsive
Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent... OMIM:601775
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, R... OMIM:301110
Malaria
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, T... ORPHA:673
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Death in infancy, Ventricular sept... OMIM:614876
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia, Reduced glutathione synthetase level, Glyoxalase deficiency OMIM:231900
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Cholelithiasis, Increased muscle glycogen content... OMIM:232800
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra... OMIM:300842
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto... OMIM:616084
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden... ORPHA:858
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenas... ORPHA:54057
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom... OMIM:613470
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice OMIM:618881
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly, Decreased beta-galactosidase activity OMIM:230350
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... OMIM:300835
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated gamma-glutamyltransferase level, Portal fibrosis, Elevated circulating aspartate aminotr... OMIM:619868
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Hemolytic anemia OMIM:301015
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Anuria, Microangi... ORPHA:90038
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Lathosterolosis
Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Hepatic fibrosis, Eleva... OMIM:607330
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos... OMIM:618278
Babesiosis
Hepatic failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic an... ORPHA:108
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Oroticaciduria, Anisocytosis,... OMIM:258900
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo... OMIM:615382
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration
Acanthocytosis OMIM:607236
Developmental And Epileptic Encephalopathy 50
Oroticaciduria, Acanthocytosis, Renal tubular acidosis, Hyperammonemia, Death in childhood, Schis... OMIM:616457
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Nephronophthisis
Anemia ORPHA:655
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Galactosemia I
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Decreased liver fu... OMIM:230400
Neutrophilia, Hereditary
Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia OMIM:162830
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Psoriasiform dermatitis, Hematuria, Retrograde ejaculation, Elevated circul... ORPHA:49041
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Hypokalemia... OMIM:611590
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Ethanolaminosis
Cardiomegaly OMIM:227150
Rh-Null, Regulator Type
Jaundice, Stomatocytosis, Hemolytic anemia OMIM:268150
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Hepatic steatosis, Agenesis of corpus callosum, Myoglobinuria, Reduced tis... ORPHA:228308
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Incre... OMIM:619644
Congenital Dyserythropoietic Anemia Type Iii
Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor... ORPHA:98870
Carnitine Palmitoyltransferase Ii Deficiency
Myopathy, Rhabdomyolysis, Agenesis of corpus callosum, Myoglobinuria, Reduced tissue carnitine O-... ORPHA:157
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Trimethylaminuria
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia OMIM:602079
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenas... ORPHA:2134
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia OMIM:608898
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM OMIM:606445
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating lactate dehydrogenase concentration, Increased circulating ferri... OMIM:614034
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Hemophagocytosis, Hepatosp... OMIM:619858
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Increased circulating lactate dehyd... OMIM:210250
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... ORPHA:100024
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Death in childhood, Anisocytosis OMIM:604273
Abetalipoproteinemia
Acanthocytosis OMIM:200100
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased lecithin cholesterol acyl trans... OMIM:245900
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Hypoglycemia, Elevated circulating creatinine concentration, Pancytopenia, Hepat... OMIM:617872
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus... ORPHA:232
Glutathione Synthetase Deficiency
Hemolytic anemia, Reduced glutathione synthetase level, Neutropenia OMIM:266130
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
3-Methylglutaconic Aciduria, Type Viia
Anemia, 3-Methylglutaconic aciduria, Neutropenia, Anisopoikilocytosis OMIM:619835
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Myop... OMIM:300653
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia, Follicular hype... OMIM:601859
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Petechiae, Anem... ORPHA:294
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Podocyte foot ... OMIM:617006
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Ascites, Splenomegaly, Death in childhood, Cardiomegaly, Hepatomegaly, Vacuol... OMIM:269920
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myopathy, Rhabdomyolysis, Myoglobinuria... ORPHA:713
Porphyria, Acute Hepatic
Elevated urinary delta-aminolevulinic acid, Hemolytic anemia OMIM:612740
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver... OMIM:617021
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperur... OMIM:613845
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... ORPHA:64743
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Dilate... ORPHA:398124
Lathosterolosis
Intrahepatic cholestasis, Hepatic failure, Horseshoe kidney, Abnormal platelet morphology, Thromb... ORPHA:46059
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Elevated circulating alkaline phosphatase concentration, ... OMIM:601847
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231226
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Cutaneous photosensitivity, Splenomegaly OMIM:121300
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Drug-Induced Lupus Erythematosus
Malar rash, Petechiae, Elevated circulating creatine kinase concentration, Hematuria, Serositis, ... ORPHA:231111
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Hepatosplenome... ORPHA:247598
Protoporphyria, Erythropoietic, 1
Erythema, Cholelithiasis, Hemolytic anemia, Hepatic failure OMIM:177000
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Glycogen Storage Disease Xii
Normocytic anemia, Increased variability in muscle fiber diameter, Cholelithiasis, Increased circ... OMIM:611881
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Decr... OMIM:304790
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H... OMIM:615415
Wolcott-Rallison Syndrome
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Hypoalbuminemia, Elevated c... ORPHA:1667
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Acanthocytosis, Hepatic steatosis, Incre... ORPHA:71
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Spleno... OMIM:613313
Hypobetalipoproteinemia, Familial, 1
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615558
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Reduced natural killer cell activity, ... ORPHA:540
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Nephrotic syndrome, Autoim... OMIM:603909
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Malar rash, Cutaneous photosensitivity, Lupus nephritis, Thrombocytopenia,... OMIM:152700
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, I... ORPHA:470
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly, Death in infancy ORPHA:139406
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Acut... ORPHA:905
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Elevated circulating hepatic transaminase... ORPHA:91547
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
8P11.2 Deletion Syndrome
Splenomegaly, Mitral valve prolapse, Spherocytosis, Atrial septal defect, Hypoplasia of penis, He... ORPHA:251066
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Ventricular septal d... OMIM:208085
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... OMIM:300751
Crigler-Najjar Syndrome, Type Ii
Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa... OMIM:606785
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated... ORPHA:400
Wolman Disease
Reduced lysosomal acid lipase activity, Acute hepatic failure, Splenomegaly, Death in infancy, He... OMIM:620151
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Pancytopenia, Splenomegaly, Petechiae, Lymphadenopat... ORPHA:79477
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Reduced circulating aldolase concentration, Decreased muscle mass, Muscle fi... ORPHA:57
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hepatomegaly, Reduced natural killer cell act... OMIM:603553
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Abnormal heart morphology, Hepatosplenom... ORPHA:79333
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan... OMIM:613839
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Reduced circulating pyrimidine 5-prime-nucleotidase activity OMIM:266120
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Lateral ventricle dilatation, Hepatosplenomegaly, Hepatic... OMIM:619487
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Muscle fiber atrophy, Stage 5 ... ORPHA:228302
Congenital Rubella Syndrome
Splenomegaly, Ventricular septal defect, Anemia, Atrial septal defect, Thrombocytopenia, Hepatome... ORPHA:290
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... OMIM:608709
Edinburgh Malformation Syndrome
Jaundice, Death in infancy OMIM:129850
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Fragile skin, Duplicated collectin... ORPHA:79404
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Abnorma... ORPHA:85445
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo... OMIM:231100
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Hepatitis Delta
Hepatic failure, Hepatitis, Bruising susceptibility, Elevated circulating aspartate aminotransfer... ORPHA:402823
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatomegaly ORPHA:99931
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Bruising susceptibility, Splenomegaly, Petechiae, Ecchymosis, Thrombocytopenia, H... OMIM:153670
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Macrocytic anemia, Death in infan... OMIM:615512
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Spi... ORPHA:2137
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612925
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Hepatic Veno-Occlusive Disease
Ascites, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration ORPHA:890
Choreoacanthocytosis
Acanthocytosis OMIM:200150
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Anemia, Decreased acid sphingomyelinase activity, Thrombocy... OMIM:607616
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Stillbirth, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytope... OMIM:259720
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Scleritis, Elevated circulating C-reactive protein concentr... ORPHA:91500
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Splenomegaly, Neutrop... ORPHA:231401
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Elevated circulating aspartate aminotransferase conce... OMIM:170100
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal f... OMIM:251880
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Elevated gamma-glutamyltransferase level, Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, H... OMIM:608885
Evans Syndrome
Bruising susceptibility, Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-... ORPHA:1959
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Proteinuria, Episodic hemolytic anemia, Increased blood urea n... ORPHA:251004
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Jaundice,... OMIM:618549
Neonatal Alloimmune Neutropenia
Jaundice, Neutropenia in presence of anti-neutropil antibodies, Miscarriage ORPHA:464370
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,... ORPHA:699
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612924
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Ascites, ... ORPHA:79239
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Jaundice, Uncon... ORPHA:447
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Ascites, Elevated circulating aspartate aminotransferase concentration, M... OMIM:257200
Rothmund-Thomson Syndrome, Type 3
Anemia, Death in infancy, Anisopoikilocytosis OMIM:615789
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Anemi... ORPHA:75563
Hemochromatosis, Type 4
Impotence, Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hep... OMIM:606069
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Rotor Syndrome
Bilirubinuria, Hyperbilirubinemia, Abnormal circulating enzyme concentration or activity, Intermi... ORPHA:3111
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Death in childhood, Autoimmune hemolytic anemia, Lymphadenopathy, Neutr... OMIM:619220
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration OMIM:218800
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Facial paralysis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosp... OMIM:259710
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Ventricular septal defect, Ret... OMIM:615550
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermati... OMIM:618935
Galactosemia Ii
Prolonged neonatal jaundice OMIM:230200
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:301310
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ... OMIM:308230
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Hepatic steatosis,... OMIM:277900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegaly, Petechiae, ... ORPHA:499009
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir... OMIM:619463
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly, Death in infancy OMIM:611721
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... ORPHA:446
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Splenomegaly, Anemia, Vasculitis in the skin, Hepatomegaly, Purpura OMIM:620296
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Premature grayi... ORPHA:381
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... ORPHA:131
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... ORPHA:53035
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... OMIM:613280
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase... ORPHA:14
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:79234
Fetal Parvovirus Syndrome
Ascites, Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia ORPHA:295
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Poor wound healing, Hepatitis, Eczematoid dermatitis, Increase... OMIM:620565
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... OMIM:278000
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Nephritis, Hypertrophic cardiomy... OMIM:617303
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Pearson Marrow-Pancreas Syndrome
Erythema, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Death in childhood, Neutropenia... OMIM:557000
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Scleritis, Keratoconjunctivitis, Increased connective tissue, Fragile ... ORPHA:79277
Hemochromatosis, Type 3
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:604250
Bacterial Toxic-Shock Syndrome
Cellulitis, Glomerulonephritis, Recurrent skin infections, Elevated circulating creatinine concen... ORPHA:36234
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Methylmalonic aciduria, Decreased methionine synthase activity, Hypomethioninemia... OMIM:250940
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp... OMIM:613101
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Skeletal muscle atrophy, Eczematoid dermatitis,... OMIM:620632
Jaundice, Familial Obstructive, Of Infancy
Jaundice OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice OMIM:237900
Schimke Immuno-Osseous Dysplasia
Nephropathy, Bone marrow hypocellularity, Minimal change glomerulonephritis, Focal segmental glom... ORPHA:1830
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Decre... OMIM:606367
Coach Syndrome 3
Portal fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int... OMIM:619113
Hyperbilirubinemia, Rotor Type
Jaundice OMIM:237450
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Renal insufficiency ORPHA:28
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia OMIM:245550
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto... OMIM:598500
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly, Pericarditis ORPHA:163596
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... ORPHA:329918
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration OMIM:143500
Tyrosinemia, Type I
Hepatic failure, Elevated circulating hepatic transaminase concentration, Nephrocalcinosis, Eleva... OMIM:276700
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... ORPHA:464329
Cockayne Syndrome Type 1
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Foot joint contractur... ORPHA:90321
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Agenesis of corpus callosum, Elevated circulating alanine amin... OMIM:608836
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho... ORPHA:480520
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... ORPHA:79124
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Increased circulating lactate d... ORPHA:93552
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Mixed Connective Tissue Disease
Nephropathy, Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Skin rash, Myositis, Hepatome... ORPHA:809
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice OMIM:262400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Arthrogryposis multiplex cong... OMIM:613404
Hydroxykynureninuria
Jaundice OMIM:236800
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... ORPHA:230
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Plethora, Increased circulatin... OMIM:133100
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of... ORPHA:1046
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... OMIM:605479
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly, Aminoaciduria ORPHA:417
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Indolent Systemic Mastocytosis
Mastocytosis, Elevated total serum tryptase, Generalized abnormality of skin, Urticaria, Increase... ORPHA:98848
Shigellosis
Microangiopathic hemolytic anemia, Urethritis, Cholestasis, Rhabdomyolysis, Abnormal blood ion co... ORPHA:810
Graft Versus Host Disease
Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, E... ORPHA:39812
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenomegaly, Spleno... OMIM:610333
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Myositis, Glomerulonephri... ORPHA:99867
Legionnaires Disease
Cellulitis, Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegal... ORPHA:549
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90033
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis... OMIM:615438
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Cirrhosis, Atrial septal defect, Thrombocytopenia,... ORPHA:101028
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, D... OMIM:618886
Gray Platelet Syndrome
Bruising susceptibility, Splenomegaly, Thrombocytopenia ORPHA:721
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Hepatomegaly, Polycystic liver disease, Abnormal... ORPHA:2924
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia OMIM:187800
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abnormal erythrocyte morphology, Acanthocytosis ORPHA:96180
Diffuse Neonatal Hemangiomatosis
Ascites, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia, Hepatomegaly ORPHA:2123
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Dilated cardiomyopathy, Ketonuria, Elevated circulating hepatic transa... ORPHA:20
Castleman Disease
Mediastinal lymphadenopathy, Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficienc... ORPHA:160
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... OMIM:602088
Pseudo-Torch Syndrome 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Umbilical hern... OMIM:251290
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Anemia, Congenital Dyserythropoietic, Type Iiia
Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Anemia of inadequat... OMIM:105600
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hemolytic anemia OMIM:609153
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Jaundic... ORPHA:99826
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Liver Failure, Infantile, Transient
Hypoalbuminemia, Decreased circulating IgG level, Elevated circulating hepatic transaminase conce... OMIM:613070
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Renal insufficiency, Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis, Th... ORPHA:79312
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Immunodeficiency 48
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... OMIM:269840
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... ORPHA:309854
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Abnormal cir... OMIM:620376
Fumarase Deficiency
Aminoaciduria, Elevated urine fumaric acid level, Intrahepatic cholestasis, Hepatic failure, Poly... OMIM:606812
Alveolar Echinococcosis
Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal pericardium morphology, ... ORPHA:284
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia OMIM:612527
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Immunodeficiency 47
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... OMIM:300972
Glucagonoma
Intrahepatic cholestasis, Abnormal abdomen morphology, Ascites, Acanthocytosis, Neoplasm of the p... ORPHA:97280
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Urticaria ORPHA:37748
Congenital Disorder Of Glycosylation, Type Iiw
Elevated gamma-glutamyltransferase level, Microcytic anemia, Recurrent otitis media, Hepatic stea... OMIM:619525
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Abnormal lymphatic ves... ORPHA:2330
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Ventricu... OMIM:301068
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Arthrogryposis Multiplex Congenita 5