Gene Summary

Name:
spectrin alpha, erythrocytic 1
Synonyms:
Spna1,  erythroid,  Spna-1,  ihj

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Spta1em1(IMPC)Bay HOM   Early adult 0.00
increased startle reflex Spta1em1(IMPC)Bay HET Early adult 8.16×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

VIP of left eye

16 Images

Eye Morphology

VIP of right fundus

17 Images

Eye Morphology

VIP of right eye

17 Images

MicroCT E18.5

Embryo reconstruction

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of left fundus

17 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Spta1 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 Spta1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase II, Hyperbilirubinemia, Macrocytic... OMIM:224120
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Anemia, Abnormal circulating ceruloplasmin concen... OMIM:615517
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Increased circulating lactat... ORPHA:3202
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Decreased t... ORPHA:300298
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Recurrent infect... OMIM:614470
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal... ORPHA:288
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Reduced haptoglobin level, Hyperbilirubinemia, Anemia o... OMIM:613673
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me... OMIM:617948
Hereditary Spherocytosis
Skin ulcer, Anemia, Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corpus... ORPHA:822
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Persistent CM... OMIM:618495
Rh Deficiency Syndrome
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Spherocytosis, Hypoch... ORPHA:71275
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr... ORPHA:98870
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Persistent C... OMIM:617514
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Decreased circulat... OMIM:616959
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
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
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte adenylate kinase activity, Hemolytic anemia OMIM:612631
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... OMIM:206200
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin... OMIM:618892
Malaria
Acute kidney injury, Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubi... ORPHA:673
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent otitis media, Fluctuating splenomegaly, Recurrent lower re... OMIM:619220
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Glutamate-Cysteine Ligase Deficiency
Jaundice, Reticulocytosis, Hepatosplenomegaly, Aminoaciduria, Hemolytic anemia ORPHA:33574
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen... OMIM:616278
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... OMIM:615559
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni... OMIM:618986
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating antibody level, Lymphocytosis, Decreased proportion of CD3... ORPHA:169154
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Herpes simplex encephal... OMIM:618982
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cho... ORPHA:231222
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Lymph... OMIM:613101
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,... OMIM:209950
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Decreased c... OMIM:619281
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Sepsis, Recurrent otitis media, He... OMIM:612783
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Leukocytosis, Unconjuga... OMIM:618278
Beta-Thalassemia
Hepatomegaly, Anemia, Reduced bone mineral density, Cholelithiasis, Hypertrophic cardiomyopathy, ... ORPHA:848
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Bruising susceptibility, Microcyt... ORPHA:231401
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Nondisjunction
Decreased fertility OMIM:158250
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count, Recurrent ... OMIM:613495
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Macrovesicular hepatic steatosis, Hepatomegaly,... OMIM:616433
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hypokalemia, Distal renal tubular acidosis, Reticulocytosis, Nephrocalcinosis, Hepat... OMIM:611590
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Nephrotic syndrome, Thrombocytopenia, Proteinuria... OMIM:615008
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Decreased lymphocyte apoptosis, Increased circulating IgG level, Nephritis, Autoimm... OMIM:603909
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Hypercholestero... OMIM:619868
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Adult-Onset Still Disease
Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati... ORPHA:829
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine OMIM:231900
Porphyria, Acute Hepatic
Elevated urinary delta-aminolevulinic acid, Hemolytic anemia OMIM:612740
Primary Myelofibrosis
Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Petechiae, Extramedullary hematopoi... ORPHA:824
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Reticulocytosis, Increased blood urea nitrogen, Prolonged neonatal jaundice, Thrombocyt... OMIM:274150
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia, Proteinuria, ... OMIM:245900
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia,... OMIM:607616
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
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, 3-Methylglutaconic aciduria, Anemia, Neutropenia OMIM:619835
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Thrombocytopenia, Proteinuria, Microangiopathic hemolytic anemia ORPHA:2134
Felty Syndrome
Chronic otitis media, Sinusitis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Neutrop... ORPHA:47612
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Elevated circulating hepatic transaminase concentration, Panhypogamm... ORPHA:79124
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, B lymphocytopenia, Neutropenia in presence of anti-neutropil... ORPHA:231154
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Decreased circulating carnitine concentration OMIM:611283
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Tuftsin Deficiency
Recurrent infections, Abnormality of the spleen OMIM:191150
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased circulating IgG... OMIM:618048
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating hepatic transamina... OMIM:619644
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Abnormality of iron homeostasis, Hepatomegaly, Hypochro... ORPHA:231214
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Reticulocytosis, Decreased serum creatinine, Thrombocytopenia, Pr... ORPHA:54057
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent candida infections, Increased circulating IgG level, Compl... OMIM:610163
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... OMIM:620449
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Splenomegaly, Abnormal blood ion concent... ORPHA:37042
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Decreased skull ossification, Thrombocytopenia, Abnormal hemoglobin, Melanocytic nevus, A... ORPHA:3319
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Recurrent infections, Crohn's disease, ... OMIM:618935
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... OMIM:300853
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent bacterial infections, Partial ab... OMIM:240500
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Glycogen Storage Disease Vii
Increased muscle glycogen content, Jaundice, Exercise-induced myoglobinuria, Hematuria, Cholelith... OMIM:232800
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Malar rash, Myositis, Skin rash, I... OMIM:615934
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Abnormality of iron homeostasis, Anemia,... ORPHA:75563
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer... OMIM:619802
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Purpura, Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microa... OMIM:235400
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Anemia, Oroticaciduria, Renal tubular acidosis, Hyperammonemia, Acanthocytos... OMIM:616457
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
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
Rh-Null, Regulator Type
Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Renal ins... ORPHA:713
Immunodeficiency 32B
BCGitis, Hepatomegaly, Anemia, Recurrent infections, Abnormal circulating IgG level, Bronchiectas... OMIM:226990
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Elevated circulating C-reactiv... OMIM:620565
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I... OMIM:611926
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin... OMIM:619924
Immunodeficiency 102
Severe varicella zoster infection, Recurrent sinusitis, Leukopenia, Increased proportion of CD8-p... OMIM:301082
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia, Cutaneous photosensitivity OMIM:618015
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Recurrent sinusitis, Increased circulating IgG level, Decreased circulati... ORPHA:98813
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperpl... ORPHA:60026
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutropenia OMIM:266130
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Reticulocytosis, Erythroid hyperplasia, Renal insufficiency, Hemo... OMIM:300653
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hemolytic anemia OMIM:609153
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thromboc... OMIM:603552
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, T lymphocytopenia, Enlarged tonsils, Psoriasiform dermatitis, ... OMIM:606367
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemoglobinuria, Hemolytic anemia, Reticulocytosis OMIM:266120
Immunodeficiency 15B
Chronic oral candidiasis, Recurrent infections, Decreased circulating antibody level, Agammaglobu... OMIM:615592
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Bronchiol... OMIM:614878
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Cirrhosis, Reticular pattern on pulmonary HRCT, Anemia, Mediastinal lymphadenopa... OMIM:614742
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Recurrent ear infections,... OMIM:615513
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration
Decreased LDL cholesterol concentration, Acanthocytosis OMIM:607236
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Recurrent lower respiratory tract infections, Pancytopenia, Complete or nea... OMIM:620282
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decr... OMIM:616452
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pn... OMIM:620296
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Pleural thickening, Hypochromic microcytic anem... OMIM:619632
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Increased circulating antibody level, Ascites, Leukopeni... ORPHA:77259
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... OMIM:609628
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Hematuria, Increased mean corpuscular volume, Ascites, Siderobl... OMIM:617021
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, Persistent EBV viremia, Lymphopenia, ... OMIM:619510
Orotic Aciduria
Hematuria, Oroticaciduria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Lymphadenopathy, Abnormal natural killer cell cou... OMIM:212050
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer... OMIM:619874
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Increased ... ORPHA:101330
Pneumocystosis
Chronic oral candidiasis, Abnormal neutrophil count, Increased circulating antibody level, Acute ... ORPHA:723
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Amme Complex
Elliptocytosis, Hematuria OMIM:300194
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Increas... OMIM:613313
Galactosemia I
Increased level of galactitol in red blood cells, Decreased liver function, Cirrhosis, Hepatomega... OMIM:230400
Atransferrinemia
Abnormality of the liver, Hypochromic anemia OMIM:209300
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu... OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Chronic Beryllium Disease
Hypersensitivity pneumonitis, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T ... ORPHA:133
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, O... ORPHA:83471
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele... OMIM:301110
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Decrease... OMIM:615615
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, Recurrent infections, B lymphocytopenia, Increas... OMIM:619824
Trimethylaminuria
Trimethylaminuria, Anemia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g... OMIM:608184
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis, Cutaneous photosensitivity, Microcytic anemi... ORPHA:79278
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hyperpigmentation of the skin, Decreased mean... ORPHA:231226
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... OMIM:214900
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Histiocytosis, Familial Lipochrome
Recurrent infections, Increased alpha-globulin, Histiocytosis, Increased circulating antibody level OMIM:235900
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Dilated ... OMIM:618805
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia OMIM:300367
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri... OMIM:617585
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Eczematoid dermatitis, Bone marrow hypocellularity, Leukopen... OMIM:616871
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Neutropenia, Recurrent lower respiratory trac... OMIM:613501
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to recurrent i... OMIM:608971
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Osteoporo... OMIM:257200
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Recurrent infections, Increased circulating IgM level, Helicobacte... ORPHA:2688
Immunodeficiency 48
Recurrent candida infections, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglu... OMIM:269840
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Homocystinuria, M... OMIM:277410
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... OMIM:242870
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Panhypogammaglobulinemia, Ski... ORPHA:572
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Cardiomyo... OMIM:616084
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia OMIM:604416
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Thrombocytosis, Lymphadenopathy, Elevated circulating C-reactive protein... OMIM:614034
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Decreased lymphocyte proliferation... ORPHA:911
Breath-Holding Spells
Pallor, Cyanosis, Iron deficiency anemia OMIM:607578
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly ORPHA:100025
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Decr... OMIM:613500
Congenital Toxoplasmosis
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Jaundice, Lymphade... ORPHA:858
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-... OMIM:606785
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated circulating hepatic transaminase concentration, Portal hypertension, Abnormality of the ... ORPHA:210136
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Galactosemia Iv
Prolonged neonatal jaundice, Hepatomegaly, Hypergalactosemia OMIM:618881
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Purpura, Complete or near-complete absence of specific antibody re... OMIM:613496
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Babesiosis
Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti... ORPHA:108
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... OMIM:618963
Nephronophthisis
Anemia, Renal insufficiency ORPHA:655
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Lymph node hypoplasia, Splenomegaly, Lymphopenia, Increased circulating guanosine conc... OMIM:613179
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Dark urine, Hemolytic anemia OMIM:301015
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Hepatomegaly, Renal hypoplasia, Anisocytosis, Aminoaciduria, Lactica... OMIM:604273
Protoporphyria, Erythropoietic, X-Linked
Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Cholelithiasis, ... OMIM:300752
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Aceruloplasminemia
Hypochromic microcytic anemia, Decreased circulating ceruloplasmin concentration, Decreased circu... ORPHA:48818
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased proportion of CD3-positive T c... ORPHA:331206
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transaminase concentra... OMIM:260400
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Erythema, Cholelithiasis, Hemolytic anemia, Hepatic failure OMIM:177000
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto... ORPHA:139402
Lathosterolosis
Bilobate gallbladder, Anisopoikilocytosis, Intrahepatic cholestasis, Hyperbilirubinemia, Elevated... OMIM:607330
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia OMIM:237500
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Jaundice, Anemia of inadequate production, Calvarial hyperostosis, Exoc... OMIM:612714
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc... ORPHA:294
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Chronic oral candidiasis, Absent platelet dense granules, Recurrent ... OMIM:608233
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Microscopic hematuria, Elliptocytosis, Renal insufficiency, Proteinuria ORPHA:86818
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia, Death in infancy OMIM:129850
8P11.2 Deletion Syndrome
Spherocytosis, Splenomegaly, Hemolytic anemia, Hypoplasia of penis ORPHA:251066
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Leishmaniasis
Skin ulcer, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Pancyt... ORPHA:507
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Recurrent aphthous stomatitis, Acute myeloid leukemia, Periodontitis, Recurrent ... ORPHA:486
Rotor Syndrome
Jaundice, Abnormal circulating enzyme concentration or activity, Hyperbilirubinemia, Intermittent... ORPHA:3111
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Pancreatitis, Hypokalemia, Leukocytosis, Reticulocytosis, Increased circulating lactate dehydroge... ORPHA:90038
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... OMIM:607624
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit... OMIM:127550
Hypermanganesemia With Dystonia 1
Decreased liver function, Cirrhosis, Increased total iron binding capacity, Hepatomegaly, Elevate... OMIM:613280
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:301045
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c... OMIM:243700
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... OMIM:301310
Abetalipoproteinemia
Acanthocytosis, Abetalipoproteinemia OMIM:200100
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Neutrop... OMIM:616022
Aspergillosis
Hypersensitivity pneumonitis, Invasive pulmonary aspergillosis, Pleuritis, Increased circulating ... ORPHA:1163
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Increased ci... ORPHA:169160
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:79303
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis... OMIM:608885
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Decreased beta-galactosidase activity, Aminoa... OMIM:230350
Combined Immunodeficiency, X-Linked
Pneumocystis carinii pneumonia, Decreased proportion of CD8-positive T cells, Abnormal natural ki... OMIM:312863
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells... OMIM:603903
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,... OMIM:616005
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:617388
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent bronchitis, B lymphocytopenia, Decr... OMIM:612692
Activated Pi3K-Delta Syndrome
Severe cytomegalovirus infection, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurren... ORPHA:397596
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir... ORPHA:169079
Dysplasia Of Head Of Femur, Meyer Type
Enlarged tonsils, Leukocytosis ORPHA:168621
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Recurrent sino... OMIM:609529
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Iron deficiency anemia, Pulmonary fibrosis OMIM:178550
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Recurrent infections, Splenomegaly, Decreased circulating total IgM OMIM:606445
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Petechiae, Impaired ADP-induced platelet aggreg... OMIM:153670
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Leukocytosis, Spleno... ORPHA:77297
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Acute Interstitial Pneumonia
Reduced hematocrit, Atelectasis, Lymphadenopathy, Elevated circulating creatinine concentration, ... ORPHA:79126
Diffuse Alveolar Hemorrhage
Decreased circulating complement C3 concentration, Anemia, Leukocytosis, Thrombocytopenia, Pulmon... ORPHA:90060
Immunodeficiency 11A
Pneumocystis jirovecii pneumonia, Decreased circulating antibody level, Agammaglobulinemia, Reduc... OMIM:615206
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Reduced haptoglobin level, Decreased erythrocyte fructose-1,6-bispho... OMIM:611881
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop... OMIM:300755
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Hepatomegaly, Recurrent lower respiratory tract infections, ... OMIM:616100
Common Variable Immunodeficiency
Chronic otitis media, Emphysema, Lymphadenopathy, Elevated circulating hepatic transaminase conce... ORPHA:1572
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612926
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent infectio... OMIM:614699
Immunodeficiency 62
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Complete or near-c... OMIM:618459
Mcleod Syndrome
Hepatomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Elev... OMIM:300842
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Elevated alkaline phosphatase of bone origin, Cirrhosis, Elevated circ... OMIM:616828
Myelolymphatic Insufficiency
Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr... OMIM:310350
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hepatosplenomegaly, M... OMIM:619013
Lcat Deficiency
Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo... ORPHA:650
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hy... ORPHA:2169
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating alanine amino... OMIM:615558
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612925
Tularemia
Pneumonia, Cervical lymphadenopathy, Anemia, Increased circulating antibody level, Mediastinal ly... ORPHA:3392
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Hemoly... ORPHA:57
Cystic Echinococcosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Increased cir... ORPHA:400
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612924
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circul... ORPHA:449395
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Cranial hyperostosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Osteopetro... OMIM:259720
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating... OMIM:617099
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Mixed Connective Tissue Disease
Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Gastritis, Mediastinal lym... ORPHA:809
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin, Pallor ORPHA:163596
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly, Abnormal urinary color ORPHA:90037
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Death in childhood, Hepatocellular carcinoma, ... OMIM:601847
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Decreased circulating antibody level, Pure red cell aplasia, Pulmon... OMIM:618165
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:218800
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Acatalasemia
Reduced circulating catalase activity, Vitiligo, Microcytic anemia ORPHA:926
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hyperbilirubin... OMIM:619256
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgG level, Recurrent sinusitis, Transient neutropenia, ... OMIM:619707
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Renal tubular acidosis, Elevated circulating cr... ORPHA:2785
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Aplastic anemia, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Pulmonary fibrosis, Leukem... OMIM:614743
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Hemophagoc... OMIM:267700
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Hypochromic microcytic anemia OMIM:619423
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukopenia, Leukemia, Pulmonary fibrosis OMIM:620400
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Osteo... ORPHA:79301
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev... OMIM:615816
Myelofibrosis
Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Pallor, Extra... OMIM:254450
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Prolonged prothrombin time, Hypertriglyceridemia, Abnormal circulating lipid concentration, Decre... ORPHA:247598
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Short Stature With Microcephaly And Distinctive Facies
Anisopoikilocytosis, Anemia OMIM:615789
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo... OMIM:619652
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepato... OMIM:614876
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
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
Hyper-Igd Syndrome
Chronic oral candidiasis, Lymphadenopathy, Recurrent infections, Arthritis, Skin rash, Increased ... OMIM:260920
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Acanthocytosis OMIM:200150
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Recurrent lower respiratory tract infections, Megaloblastic a... OMIM:620603
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Renal tubular epithelial necrosis, Impotence, E... ORPHA:49041
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Eczematoid dermatitis, ... OMIM:300988
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Rec... OMIM:301000
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam... OMIM:602347
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Prolonged prothrombin time, Elevated circulating hepatic transaminase conce... OMIM:603553
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hypochromic microcytic anemia, Anemia, Cholestasis, Portal hypertensio... ORPHA:440713
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Bronchitis, Optic neuritis, Biliary ci... ORPHA:289390
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis OMIM:314000
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Persistent EBV viremia, H... OMIM:619126
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Anemia, Hyperuricemia ORPHA:371
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Lathosterolosis
Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Thrombocytopeni... ORPHA:46059
Evans Syndrome
Autoimmune hemolytic anemia, Jaundice, Petechiae, Neutropenia in presence of anti-neutropil antib... ORPHA:1959
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly ORPHA:172
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Recurrent in... OMIM:300635
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Enlarged kidney, He... OMIM:619902
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
BCGitis, Sepsis, Hepatomegaly, Panhypogammaglobulinemia, Abnormally low T cell receptor excision ... OMIM:602450
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Sepsis, Hepatomegaly, Lymphadenopathy, Recurrent viral infections, Thromboc... ORPHA:169090
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259710
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera... ORPHA:79302
Hemochromatosis, Type 3
Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Increased circulating... OMIM:604250
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia OMIM:615399
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Decreased circulating total IgM, Recurrent l... OMIM:620430
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Recurrent vulvovaginal candidiasis... ORPHA:331235
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Cardiomyopathy, Hyperlipidemia... ORPHA:228308
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Decreased circulating total IgM, Increased circulating interleukin 6 conc... OMIM:618944
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Mediastinal ly... OMIM:612387
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... OMIM:620121
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Increas... OMIM:304790
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG... OMIM:102700
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Increased hepatocellular lipid droplets,... ORPHA:71
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascites, Increas... ORPHA:890
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Relapsing Fever
Acute kidney injury, Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, E... ORPHA:91547
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne... OMIM:619774
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Multiple Myeloma
Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea... ORPHA:29073
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal ly... ORPHA:229717
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Increased circulating ... ORPHA:37748
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Elevated transferrin saturation, Increased circulating ferritin ... OMIM:606069
Acute Radiation Syndrome
Thrombocytopenia, Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Gr... ORPHA:454831
Anemia, Autoimmune Hemolytic