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Gene: Slc11a1 MGI:1345275

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Gene Summary

Name:
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
Synonyms:
Ity,  Lsh,  ity,  Ity1,  Nramp,  Bcg,  Nramp1,  host resistance locus Bcg/Ity/Lsh

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Slc11a1em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Slc11a1em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Slc11a1em1(IMPC)Mbp HOM Early adult 0.00
increased neutrophil cell number Slc11a1em1(IMPC)Mbp HOM Early adult 1.04×10-06
decreased lymphocyte cell number Slc11a1em1(IMPC)Mbp HOM Early adult 8.02×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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X-ray

XRay Images Whole Body Dorso Ventral

80 Images

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Human diseases caused by Slc11a1 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 associated to Slc11a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystic Fibrosis
Nontuberculous mycobacterial pulmonary infection, Recurrent Staphylococcus aureus infections, Rec... ORPHA:586

The table below shows human diseases predicted to be associated to Slc11a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Candidiasis, Familial, 4
Recurrent vulvovaginal candidiasis, Onychomycosis OMIM:613108
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections OMIM:308220
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterial infections, Recu... OMIM:611521
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Immunodeficiency 38 With Basal Ganglia Calcification
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Immunodeficiency 116
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections OMIM:615561
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Immunodeficiency 61
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... OMIM:300310
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections OMIM:613494
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Coccidioidomycosis, Sever... ORPHA:319552
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis OMIM:613779
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Meningitis, Recurr... OMIM:613500
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Recurrent infection of the gastrointestin... OMIM:605258
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Recurrent bacterial infections, Disseminated nontuberculous myc... OMIM:300636
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Recurrent lower respiratory tract infections, Recur... OMIM:613501
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:616873
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Immunodeficiency 110 With Lymphoproliferation
Sepsis, Recurrent lower respiratory tract infections, Persistent EBV viremia, Chronic mucocutaneo... OMIM:614868
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... OMIM:613493
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections OMIM:608106
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... OMIM:608184
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections OMIM:613502
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, BCGosis, Chronic mucocutaneous candidiasis... OMIM:620449
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs... OMIM:150550
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Bare Lymphocyte Syndrome, Type Ii
Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Chronic mucocut... OMIM:209920
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections OMIM:612692
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent viral infections, Recurrent upper and lower respiratory tract... ORPHA:275
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Adult Idiopathic Neutropenia
Recurrent infections, Recurrent fungal infections, Recurrent bacterial infections, Helicobacter p... ORPHA:2688
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Medi... OMIM:619802
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent bronchitis, Recurrent pneumonia, Recurrent sinusitis, Meningiti... OMIM:240500
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Absent circulating B cells, Splenomegaly, Pancytopenia OMIM:620282
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
T-Cell Immunodeficiency With Thymic Aplasia
Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i... ORPHA:83471
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Immunodeficiency 95
Lymphopenia OMIM:619773
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi... OMIM:619375
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Galactosemia Iii
Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly OMIM:620010
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... ORPHA:277
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymp... OMIM:602450
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu... OMIM:610984
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... ORPHA:3226
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ... ORPHA:79301
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Sepsis, Chronic mucocutaneous candidiasis, Recurrent bacterial skin inf... ORPHA:276
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis OMIM:300635
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis OMIM:613313
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sepsis, Recurrent otitis media, Molluscum contagiosum, Disseminated molluscum contagiosum, Severe... OMIM:243700
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran... OMIM:618935
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent candida infections, Recurrent Staphylococcus aureus infections, Chronic mucocutaneous c... ORPHA:572
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Chronic mucocutaneous candidiasis, Recurrent bacterial skin infections,... ORPHA:911
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia OMIM:620210
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Combined Immunodeficiency Due To Crac Channel Dysfunction
Sepsis, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infectio... ORPHA:169090
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Chronic mucocutaneous candidiasis, Invasive fungal infection, Severe vira... ORPHA:98813
Hemochromatosis, Type 3
Cirrhosis, Neutropenia, Anemia, Lymphopenia OMIM:604250
Leukocyte Adhesion Deficiency, Type I
Recurrent infections, Chronic mucocutaneous candidiasis, Recurrent staphylococcal infections, Rec... OMIM:116920
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools OMIM:619868
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... OMIM:242700
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr... ORPHA:54251
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ... ORPHA:824
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Acute l... ORPHA:158057
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly OMIM:609981
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233710
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613496
Immunodeficiency 115 With Autoinflammation
Recurrent viral infections, Candida esophagitis, Recurrent bacterial infections OMIM:620632
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat... OMIM:616828
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti... ORPHA:331206
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci... ORPHA:64743
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess OMIM:612260
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Specific Granule Deficiency 2
Sepsis, Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media OMIM:617475
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Immunodeficiency 44
Lymphopenia OMIM:616636
Systemic Lupus Erythematosus 17
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia OMIM:301080
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Pyoderma, Recurrent urinary tract infections, Meningitis, Recurrent enter... OMIM:307200
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Onychomycosis, Severe varicella zoster infection, Recurrent s... ORPHA:331235
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233690
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati... ORPHA:848
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly ORPHA:75234
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:620603
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Immunodeficiency 67
Recurrent staphylococcal infections, Meningitis, Recurrent streptococcal infections OMIM:607676
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Portal inflammation... OMIM:602347
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili... ORPHA:1414
Immunodeficiency 10
Sepsis, Recurrent otitis media, Recurrent infections, Recurrent urinary tract infections, Recurre... OMIM:612783
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent tonsillit... ORPHA:183675
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent pneumoni... OMIM:601495
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Lymphopenia OMIM:620443
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto... ORPHA:2686
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Thrombocytopenia, ... ORPHA:381
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinophilia, Hepa... ORPHA:169160
Joubert Syndrome 33
Splenomegaly OMIM:617767
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent viral infections, Recurrent infection of the gastrointestinal... ORPHA:486
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections OMIM:619693
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count OMIM:616050
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro... ORPHA:158061
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly... ORPHA:39041
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Thrombocytopenia, Hepatosplenomega... OMIM:619644
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormality ... ORPHA:398124
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula... ORPHA:231222
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Immunodeficiency 12
Recurrent viral infections, Recurrent lower respiratory tract infections, Recurrent bacterial inf... OMIM:615468
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Recurrent bacterial infections OMIM:618048
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Severe varicella zoster infection, Recurrent viral infections, Recurren... OMIM:606367
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... ORPHA:47612
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly OMIM:235555
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... OMIM:214500
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Sepsis, Pneumocystis carinii pneumonia, Recurrent lower respiratory tra... OMIM:308230
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis ORPHA:294
Purine Nucleoside Phosphorylase Deficiency
Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Recurrent viral... OMIM:613179
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic... ORPHA:77259
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly OMIM:613027
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:306400
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:230800
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Splenomegaly, ... OMIM:607765
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole... ORPHA:131
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Adult-Onset Still Disease
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S... ORPHA:829
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo... ORPHA:158048
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum OMIM:300291
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat... OMIM:613812
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Caroli Disease
Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepato... ORPHA:53035
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Chronic mucocutaneous candidi... OMIM:615816
Relapsing Fever
Jaundice, Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia ORPHA:91547
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia ORPHA:90033
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Chronic Granulomatous Disease
Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Splenomegaly, Abnormality of neutrophils ORPHA:379
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Anemia, Portal hypertension, Lymphopenia OMIM:620365
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... OMIM:102700
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia OMIM:301110
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenopathy, Leukopenia, Sple... OMIM:603553
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune t... OMIM:620565
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Psoriasis 14, Pustular
Cholangitis, Neutrophilia, Leukocytosis OMIM:614204
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... OMIM:257220
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly, Hepatomegaly OMIM:612852
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis OMIM:618641
Patent Urachus
Recurrent urinary tract infections, Recurrent gram-negative bacterial infections ORPHA:431341
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel... ORPHA:3261
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Legionnaires Disease
Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, ... ORPHA:549
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia OMIM:605309
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis... OMIM:208540
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,... ORPHA:35078
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopeni... OMIM:612541
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Enlarged platelet... OMIM:608233
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly OMIM:260920
Immunodeficiency 9
Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia OMIM:612782
Hypocomplementemic Urticarial Vasculitis
Meningitis, Recurrent bacterial infections ORPHA:36412
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th... OMIM:210250
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:153670
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent ear infections, Recurrent... ORPHA:221139
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia... ORPHA:1572
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... ORPHA:508542
Mirage Syndrome
Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections OMIM:617053
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit... OMIM:127550
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act... OMIM:611881
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Cholestasis, Prolonged neonatal jau... OMIM:300972
Ebola Hemorrhagic Fever
Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopenia, Hepatitis ORPHA:319218
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Schistocytosis OMIM:616084
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hypertension, Bone marr... OMIM:615688
Acute Radiation Syndrome
Thrombocytopenia, Granulocytopenia, Lymphopenia ORPHA:454831
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukopenia, Leukocytosis ORPHA:36238
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Fusariosis
Lung abscess, Brain abscess, Granuloma, Abnormality of the spleen, Peritonitis, Lymphopenia, Abno... ORPHA:228119
Chromomycosis
Recurrent bacterial infections ORPHA:182
Gaucher Disease, Type Iiic
Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231005
Postinfectious Vasculitis
Severe cytomegalovirus infection, Recurrent candida infections, Persistent human papillomavirus i... ORPHA:48435
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections ORPHA:244
Chédiak-Higashi Syndrome
Recurrent infections, Recurrent bacterial skin infections, Recurrent staphylococcal infections, R... ORPHA:167
Whim Syndrome
Sepsis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Meningitis, Recurrent ... ORPHA:51636
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Hyperlipoproteinemia, Type I
Acute pancreatitis, Jaundice, Hepatosplenomegaly, Splenomegaly OMIM:238600
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy... OMIM:263200
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Peritonitis OMIM:249100
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis OMIM:615947
Vici Syndrome
Chronic mucocutaneous candidiasis, Recurrent viral infections, Recurrent respiratory infections, ... OMIM:242840
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Cystic Fibrosis
Nontuberculous mycobacterial pulmonary infection, Recurrent Staphylococcus aureus infections, Rec... ORPHA:586
Idiopathic Hypereosinophilic Syndrome
Anemia, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Myeloproliferati... ORPHA:3260
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Kikuchi-Fujimoto Disease
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Leukopenia,... ORPHA:50918
Reynolds Syndrome
Jaundice, Hepatomegaly, Cholestasis, Biliary cirrhosis, Splenomegaly, Lymphopenia OMIM:613471
Immunodeficiency 87 And Autoimmunity
Severe cytomegalovirus infection, Sepsis, Persistent EBV viremia, Recurrent viral infections, Rec... OMIM:619573
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections OMIM:615895
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Abnormality of... ORPHA:84064
Sweet Syndrome
Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Neutro... ORPHA:3243
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod... ORPHA:391487
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Abnormality of the pancreas, Lymphopenia ORPHA:935
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Shwachman-Diamond Syndrome
Recurrent viral infections, Recurrent bacterial infections, Sepsis ORPHA:811
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Leukocyte Adhesion Deficiency
Chronic oral candidiasis, Sepsis, Recurrent tonsillitis, BCGosis, Recurrent urinary tract infecti... ORPHA:2968
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Chronic mucocutaneous candi... OMIM:147060
Crimean-Congo Hemorrhagic Fever
Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Acute pancreatitis, Leukocytosis, Ascites,... ORPHA:99827
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections ORPHA:79259
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Lysinuric Protein Intolerance
Recurrent bacterial infections ORPHA:470
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Recurrent respiratory infections, Recurrent bacterial infections ORPHA:2273
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642

Histopathology

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

There is no histopathology data for Slc11a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc11a1.

No publications found that use IMPC mice or data for Slc11a1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Slc11a1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Slc11a1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc11a1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Slc11a1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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