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 right fundus

17 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

Eye Morphology

VIP of left eye

17 Images

Eye Morphology

VIP of right eye

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... OMIM:616689
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... OMIM:237800
Spherocytosis, Type 2
Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... OMIM:616649
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Ret... OMIM:109270
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Spherocytosis, Type 1
Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... OMIM:182900
Hereditary Elliptocytosis
Congenital hemolytic anemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Stomatocyt... ORPHA:288
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Po... OMIM:615234
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... ORPHA:300298
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Recurrent infec... OMIM:614470
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Bronchiectas... OMIM:618534
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume, Intermittent jau... OMIM:617948
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Hereditary Spherocytosis
Hepatomegaly, Anemia, Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Pallor, Extramedullary he... ORPHA:822
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased glucose-6-p... OMIM:300908
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... OMIM:616959
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... OMIM:615897
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Hype... ORPHA:71275
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... OMIM:601775
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level OMIM:206200
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... OMIM:617514
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... OMIM:185000
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Harderoporphyria
Hepatomegaly, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Increased urine harderopo... OMIM:618892
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Anisopoikilocytosis, Elevated red cell adenosine deaminase level, Stomatocytosis, Hyperuricemia, ... OMIM:102730
Malaria
Anemia, Hyperbilirubinemia, Acute kidney injury, Thrombocytopenia, Elevated circulating C-reactiv... ORPHA:673
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hypospadias, Ascites, Micropenis, Hepatosplenomegaly, Hemolytic anemia OMIM:600461
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Reticulocytosis, Aminoaciduria, Hemolytic anemia, Jaundice ORPHA:33574
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Iron deficiency anemia, Hyperbilirubinemia, Sple... OMIM:616278
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, L... OMIM:619220
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphadenopathy, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsi... OMIM:615559
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Chronic bronchitis, Neutropenia, Severe varicella zoster infection, Hepatosplenomegaly, P... OMIM:618986
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Hepatomegaly, Erythroid hyperplasia, Elevated hepa... ORPHA:231222
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Nonsphe... OMIM:235700
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,... ORPHA:169154
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Salmone... OMIM:209950
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... OMIM:618982
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemoly... OMIM:618278
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Interstitial pneumonitis, Neutropenia in presence ... OMIM:615952
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Abnormal hem... ORPHA:848
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Glycogen Storage Disease Vii
Increased total bilirubin, Cholelithiasis, Hyperuricemia, Exercise-induced myoglobinuria, Reticul... OMIM:232800
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... OMIM:619281
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Nephrocalcinosis, Isothenuria, Hepatosplenomegaly, Reticulocytosis, Decreased mean c... OMIM:611590
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Renal tubular acidosis, Anemia, Hyperammonemia OMIM:616457
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin, B... ORPHA:231401
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Nondisjunction
Decreased fertility OMIM:158250
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Lymphadenopathy, Pleuritis, Recurrent infec... ORPHA:47612
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleukin level, Panc... ORPHA:79124
Porphyria, Acute Hepatic
Hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:612740
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... OMIM:266200
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
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
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal jaundice, Elevated circulat... OMIM:274150
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... OMIM:618394
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria ORPHA:2134
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Normochromic anemia, Proteinuria, Hypertriglyceridemia, ... OMIM:245900
Primary Myelofibrosis
Ecchymosis, Leukocytosis, Thrombocytosis, Portal hypertension, Hepatomegaly, Petechiae, Lymphaden... ORPHA:824
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Amme Complex
Elliptocytosis OMIM:300194
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Sepsis, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil an... ORPHA:231154
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Beta-Thalassemia Major
Hepatomegaly, Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcytic anemia... ORPHA:231214
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Eczema, Decreased prealbumin level, Tubulointerstitial nephritis, Neutropenia, Neutropeni... ORPHA:37042
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Elevated circulating C-reactive protein concentration, BCGosis, Monocytosis, Lympha... OMIM:619644
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Melanocytic nevus, Decreased skull ossification, Abnormal cardiac se... ORPHA:3319
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Decreased serum creatinine, Acute kidney injury, Re... ORPHA:54057
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pustule, Leukopenia, Myositis, Tachypnea, Increased circulating IgA level, Paratr... OMIM:615934
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Lymphadenopathy, Abscess, Recurrent infections, Recurrent tonsillitis, Ony... OMIM:618935
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... ORPHA:723
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Decreased proportion of class-sw... OMIM:607594
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infe... OMIM:618495
Immunodeficiency 25
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... OMIM:610163
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Aicardi-Goutieres Syndrome 6
Hemolytic anemia OMIM:615010
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Mediastinal lymphadenopathy, Crackles, Obstructive sleep apnea, Bone marrow hypocellularity, Coug... OMIM:614742
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia, Jaundice OMIM:268150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circulating creatinin... OMIM:235400
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Cough, Nodular pattern on pulmonary HRCT, Dyspnea, Fo... ORPHA:60026
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Decreased hemoglobin concentration, Hyperbilirubinemia, Reticulocytosis, Hemolytic... ORPHA:713
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Mediastinal lymph... OMIM:300853
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Abnormal respiratory syst... ORPHA:133
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis, Decreased LDL cholesterol concentration OMIM:615558
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Anemia OMIM:611283
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Increased level of L-pyroglutamic acid in urine OMIM:266130
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia,... OMIM:308230
Caspase 8 Deficiency
Eczema, Pneumonia, Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary inf... OMIM:607271
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, Severe varicella zoster infection, Lymphadenopathy, Hepatosplenomegaly, Recurrent respira... OMIM:606367
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... OMIM:603552
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... OMIM:609628
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
Pgm3-Cdg
Sepsis, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis... ORPHA:443811
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Acanthocytosis, Decreased LDL cholesterol concentration OMIM:607236
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Sp... OMIM:613313
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... OMIM:613501
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia, Cutaneous photosensitivity OMIM:618015
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neoplasm of the lung, Neutropenia, Hepatocellular carcinoma, Elevat... ORPHA:158057
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice OMIM:608885
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Crackles, Elevated hepatic transaminase, Bone marrow hypocellularity, Coug... ORPHA:210136
Porphyria Cutanea Tarda
Increased serum iron, Elevated hepatic iron concentration, Portal inflammation, Chronic hepatitis... ORPHA:101330
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... OMIM:619510
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid le... OMIM:616871
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Atransferrinemia
Abnormality of the liver, Hypochromic anemia OMIM:209300
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody... ORPHA:2442
Autosomal Erythropoietic Protoporphyria
Cutaneous photosensitivity, Erythema, Cholelithiasis, Cirrhosis, Decreased liver function, Microc... ORPHA:79278
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volume... OMIM:277410
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Nephrocalcinosis, Decreased cir... OMIM:616084
Orotic Aciduria
Hypochromia, Oroticaciduria, Hematuria, Orotic acid crystalluria, Anisocytosis, Poikilocytosis, P... OMIM:258900
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:618963
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent opportunistic infections, Neutropenia in presence of anti-neutropil antibodi... OMIM:613179
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Death in infancy, Jaundice OMIM:129850
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production OMIM:300367
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Trimethylaminuria
Anemia, Trimethylaminuria, Neutropenia, Splenomegaly OMIM:602079
Galactosemia I
Hepatomegaly, Hypergalactosemia, Aminoaciduria, Increased level of galactitol in urine, Increased... OMIM:230400
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis... OMIM:608184
Thymic Aplasia
Sinusitis, Sepsis, Chronic otitis media, Lymphadenopathy, Recurrent infections, Recurrent candida... ORPHA:83471
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, Co... OMIM:614034
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Abse... OMIM:259720
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microcytic anemia... ORPHA:231226
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... OMIM:611926
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Recurrent opportunistic infections, Pneumonia, Lymphadenopathy, Failure to ... OMIM:608971
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of ant... ORPHA:572
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alani... OMIM:618805
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Recurrent infections, Histiocytosis OMIM:235900
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
Mcleod Syndrome
Acanthocytosis, Abnormal erythrocyte morphology, Hepatosplenomegaly, Elevated circulating creatin... OMIM:300842
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Thrombocytosis, Hepatosplenomegaly, Microcytic anemia OMIM:604416
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis, Cutaneous photosensitivity OMIM:300752
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Recurrent aphth... ORPHA:3261
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Breath-Holding Spells
Iron deficiency anemia, Cyanosis, Pallor OMIM:607578
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Dysgammaglobuli... OMIM:308240
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... OMIM:300400
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Hypochromic microcytic anemia, Sideroblastic anemia OMIM:301310
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Hemolytic Anemia, Congenital, X-Linked
Dark urine, Hemolytic anemia, Jaundice OMIM:301015
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Eosinophilia, Erythroderma, Tubulointerstitial nephritis, Interstitial pneumonitis, ... ORPHA:139402
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly, Panhypogammaglobulinemia, Recurrent... OMIM:269840
Aceruloplasminemia
Aceruloplasminemia, Hypochromic microcytic anemia, Elevated hepatic iron concentration, Refractor... ORPHA:48818
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Stomatitis, Lymphadenopathy, Recurrent upper and lower respir... ORPHA:911
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Hepatoportal Sclerosis
Leukopenia, Hepatocellular carcinoma, Ascites, Anemia, Hyperbilirubinemia, Nodular regenerative h... ORPHA:64743
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Abnormality of the liver, Prolonged... ORPHA:79234
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Aspergillosis
Sinusitis, Neutropenia, Pleuritis, Hepatitis, Unusual CNS infection, Eosinophilia, Chronic pulmon... ORPHA:1163
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Hepatomegaly, Neutropenia, Chronic oral candidiasis, Recurrent ot... OMIM:608233
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Nephrocalcinosis, Elevated hepatic transaminase, Anemia, Persistence o... OMIM:260400
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Thrombocytopenia, Hemolytic anemia, Rena... ORPHA:108
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemia, Hypermanganesemia, Cirrhosis, Decrea... OMIM:613280
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Dubin-Johnson Syndrome
Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice OMIM:237500
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Bone marrow hypocellularity, Anemia, Cirrhosis, Lymphopenia, Pulmonary ... OMIM:127550
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... ORPHA:331206
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Decreased specific pneumococcal antibody lev... OMIM:613496
Nephronophthisis
Renal insufficiency, Anemia ORPHA:655
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hypertriglyceridemia, Hepatic failure OMIM:177000
Diffuse Alveolar Hemorrhage
Hypoxemia, Leukocytosis, Thrombocytopenia, Irregular septal thickening on pulmonary HRCT, Decreas... ORPHA:90060
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
8P11.2 Deletion Syndrome
Spherocytosis, Hemolytic anemia, Hypoplasia of penis, Splenomegaly ORPHA:251066
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Ascites, Lymphadenopathy, Cardiomegaly, Anemia... ORPHA:858
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Decreased circulating total IgA, Pneumonia, Recurrent herpes, Failure to thrive sec... ORPHA:169160
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Calvarial hyperostosis, Anemia of inadequate prod... OMIM:612714
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Microscopic hematuria, Proteinuria, Renal insufficiency, Elliptocytosis ORPHA:86818
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Hyponatremia, Unconjugated hyperbilirubinemia, Schistocytosis, Microangiopathic hem... ORPHA:90038
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Reduced hematocrit, Crackles, Bronchiectasi... ORPHA:79126
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Cutis laxa, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic stea... OMIM:301045
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal enzyme/coenzyme activity, Intermitten... ORPHA:3111
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Hepatomegaly, Follicular hyperplasia, Recurrent bronchitis, Bronc... OMIM:240500
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... OMIM:607624
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Pn... OMIM:601495
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Jaundice OMIM:613839
Abetalipoproteinemia
Acanthocytosis, Abetalipoproteinemia OMIM:200100
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Hypocalcemia ORPHA:100025
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Hepatomegaly, Sepsis, Bronchiectasis, Decreased circulating IgA ... OMIM:616100
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Decreased circulating total IgM, Hemolyti... OMIM:600903
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent oti... OMIM:613502
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Leishmaniasis
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Splenomegaly, A... ORPHA:507
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Microcytic anemia, Neutropenia OMIM:251900
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Inflammatory abnormality of the skin, B lymphocytopenia, Absent tonsils, Lack of T cel... ORPHA:277
Oculocerebral Hypopigmentation Syndrome Of Preus
Generalized hypopigmentation, Hypochromic anemia OMIM:257790
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... OMIM:600462
Candidiasis, Familial, 2
Lymphadenopathy, Chronic oral candidiasis, Decreased serum iron, Onychomycosis, Chronic tinea inf... OMIM:212050
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... OMIM:617388
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Common Variable Immunodeficiency
Hemolytic anemia, Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Elevated... ORPHA:1572
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Hepatomegaly, Sepsis, Neutropenia, Respiratory insufficiency, Leu... OMIM:612541
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia OMIM:273680
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Pulmonary Hemosiderosis
Pulmonary fibrosis, Iron deficiency anemia, Respiratory insufficiency, Recurrent intrapulmonary h... OMIM:178550
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Enlarged tonsils ORPHA:168621
Niemann-Pick Disease, Type A
Hepatomegaly, Ascites, Lymphadenopathy, Osteoporosis, Bone-marrow foam cells, Splenomegaly, Eleva... OMIM:257200
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Lathosterolosis
Horseshoe kidney, Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal c... OMIM:607330
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Pleuritis, Abnormal lung morphology, Eosinophilia,... ORPHA:449395
Galactosemia Iii
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Hepatomegaly, Pericarditis, Mediastinal lymphadenopathy,... ORPHA:809
Cystic Echinococcosis
Eosinophilia, Jaundice, Splenic cyst, Biliary tract obstruction, Hepatic cysts, Invasive parasiti... ORPHA:400
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG level, Decreased... OMIM:613011
Tularemia
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Pneumonia, Lymphadenopathy, Anemia, Cou... ORPHA:3392
Omenn Syndrome
Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Hypoproteinemia, Erythroderma, P... OMIM:603554
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... OMIM:616022
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... ORPHA:2169
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... OMIM:606843
Majeed Syndrome
Hepatomegaly, Leukocytosis, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Splenom... ORPHA:77297
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Death in infancy, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated... OMIM:618528
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Hemoly... ORPHA:57
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Ascites, Depletion of mitochond... OMIM:251880
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Recurrent infections, Splenomegaly, Lymphocytosis, Decreased circulating total IgM OMIM:606445
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microcytic anemia, Abnormality of skin pigmentation OMIM:612379
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia, Bruising susceptibility OMIM:188000
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki... ORPHA:650
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... OMIM:612926
Sickle Cell Anemia
Recurrent bacterial infections, Hypoxemia, Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithias... OMIM:603903
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... OMIM:617099
Osteopetrosis, Autosomal Recessive 2
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia OMIM:259710
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Splenomegaly, Decreased circulating total IgM, Eosinophilia, Decreased circulating IgG... OMIM:102700
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Abnormal lymphocyte morpholo... OMIM:609529
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, E... OMIM:601847
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal circulating... ORPHA:86839
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Hydronephrosis, Leukopenia, Distal renal tubular acidosis, Elevated circulating cre... ORPHA:2785
Immunodeficiency 92
Cholangitis, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cel... OMIM:619652
Short Stature With Microcephaly And Distinctive Facies
Anisopoikilocytosis, Anemia OMIM:615789
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Inflammation of the large intestine, Lymphadenopathy, Recurrent infections, Splenomegaly,... OMIM:614700
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly, Microcytic anemia OMIM:619013
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Bronchiectasis, Decreased circulating IgG level, Dec... OMIM:193670
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Lymphadenopathy, Normochromic anemia, Decreased circulating antibod... ORPHA:289390
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Pneumothorax, Pulmonary art... OMIM:612387
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Acatalasemia
Reduced catalase level, Vitiligo, Microcytic anemia ORPHA:926
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia, Jaundice OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly, Pallor ORPHA:163596
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Hypochromic microcytic anemia OMIM:619423
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Wiskott-Aldrich Syndrome
Sepsis, Eczema, Inflammation of the large intestine, Impaired lymphocyte transformation with phyt... OMIM:301000
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Leukemia, Bone marrow hypocellularity, Cirrhosis, Pulmonary fibrosis, Myeloid leuke... OMIM:614743
Igg4-Related Retroperitoneal Fibrosis
Ureteropelvic junction obstruction, Elevated circulating C-reactive protein concentration, Nephro... ORPHA:49041
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Decreased proportion of class-switched memory B cells, Increased circulating i... OMIM:618944
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Lathosterolosis
Horseshoe kidney, Hepatomegaly, Anisopoikilocytosis, Abnormal platelet morphology, Hepatic failur... ORPHA:46059
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransferase concent... OMIM:614876
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Hyper-Igd Syndrome
Leukocytosis, Lymphadenitis, Increased circulating IgA level, Chronic oral candidiasis, Lymphaden... OMIM:260920
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated... ORPHA:79301
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Hepatomegaly, Crackles, Glomerulonephritis, Iron deficiency anemi... ORPHA:99931
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Leukopenia,... OMIM:267700
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis OMIM:314000
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma free carnitine, Tubulointerstitial nephritis, Hyperlipidemia, Red-brown urine, H... ORPHA:228308
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating alkaline phosphatase concent... OMIM:235555
Hemophagocytic Lymphohistiocytosis, Familial, 2
Lymphadenopathy, Prolonged prothrombin time, Splenomegaly, Increased circulating ferritin concent... OMIM:603553
Selective Igm Deficiency
Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Recurrent herpes, Neutropen... ORPHA:331235
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperlipidemia, Anemia, Stage 5 chronic kidney disease, Hypoa... OMIM:603278
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Hepatomegaly, Sepsis, Pneumonia, Chronic otitis media, Lymphadeno... ORPHA:169090
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:615085
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration, Hypochromic anemia OMIM:606893
Immunodeficiency 23
Eczema, Allergic rhinitis, Neutropenia, Eosinophilia, Severe varicella zoster infection, Bronchie... OMIM:615816
Hyperlysinemia, Type I
Hyperlysinemia, Anemia OMIM:238700
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia, Abnormal circulating histidine concentration, Abnormal concentratio... ORPHA:51208
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Prolonged prothrombin time, Decreased circulating antibody level, Hyperammonem... ORPHA:247598
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Immunodeficiency 84
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... OMIM:619437
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... ORPHA:79302
Acute Erythroid Leukemia
Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia, Pancytopenia ORPHA:318
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Cirrhosis, Increased ... OMIM:604250
Leukocyte Adhesion Deficiency
Sinusitis, Sepsis, Recurrent aphthous stomatitis, Recurrent staphylococcal infections, Impaired p... ORPHA:2968
Neonatal Lupus Erythematosus
Hemolytic anemia, Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Cutaneous photosensitivity, ... ORPHA:398124
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Death in infancy, Ascites, Cirrhosis, Cholestasis, Hepatic fail... OMIM:617156
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... OMIM:617006
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma free carnitine, Tubulointerstitial nephritis, Hyperlipidemia, Red-brown urine, E... ORPHA:157
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Cutaneous photosensitivity, Leukopenia, Nephritis, Arthritis, Mala... OMIM:152700
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proli... OMIM:617241
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased circulati... ORPHA:37748
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circu... OMIM:300635
Choreoacanthocytosis
Acanthocytosis, Elevated circulating creatine kinase concentration OMIM:200150
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Hepatitis, Anemia, Cholestatic liver disease, Cholestasis, Portal ... ORPHA:440713
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Immunodeficiency 50
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... OMIM:300988
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to ... OMIM:601457
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Abnormality of the menstrual cycle, Abnormal tricuspid valve morphology, M... ORPHA:90308
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Otitis media, Decrea... OMIM:312863
Isolated Agammaglobulinemia
Sinusitis, Sepsis, Pneumonia, Recurrent cutaneous abscess formation, Abnormality of the lymphatic... ORPHA:229717
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Lymphadenopathy, Hepatospl... OMIM:619126
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Elevated transferrin saturation, Cirrhosis, Increased circulating ferritin ... OMIM:606069
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Aut... ORPHA:1959
Galactosemia Iv
Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Jaundice ORPHA:890
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... ORPHA:70592
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice ORPHA:172
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Recurrent respiratory infections, T lymphocytopenia, Decreased circulating IgG... OMIM:233650
Retinohepatoendocrinologic Syndrome
Elevated circulating creatine kinase concentration, Degenerative liver disease, Pallor OMIM:268040
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... OMIM:607765
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Petechiae, Lymphadenopathy, Abnormal renal physiology, Decreased circulating antibod... ORPHA:540
Pyknoachondrogenesis
Stillbirth OMIM:265880
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Srd5A3-Cdg
Elevated hepatic transaminase, Spotty hyperpigmentation, Microcytic anemia ORPHA:324737
Galactosemia Ii
Prolonged neonatal jaundice, Galactosuria OMIM:230200
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Anemia, Patent ductus arteriosus, Splenomegaly, Atrial s... ORPHA:290
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Hematuria, Anemia, Incre... ORPHA:91547
Lymphoproliferative Syndrome 2
Hepatomegaly, Sepsis, Severe varicella zoster infection, Ascites, Lymphadenopathy, Decreased circ... OMIM:615122
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Co... OMIM:269920
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Noncompaction cardiomyopathy, Normochro... OMIM:610198
Wilson Disease