Gene Summary

Name:
galanin receptor 1
Synonyms:
Galnr1

IMPC Data Collections

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
increased eosinophil cell number Galr1em1(IMPC)H HOM Late adult 0.00
decreased lymphocyte cell number Galr1em1(IMPC)H HOM Late adult 3.65×10-17
enlarged spleen Galr1em1(IMPC)H HOM Late adult 0.00

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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.

Phenotype associated images not available

Human diseases caused by Galr1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Galr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 88
Eosinophilia OMIM:619630
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Immunodeficiency 7
Hypereosinophilia, Lymphadenopathy OMIM:615387
Immunodeficiency 8
Lymphopenia OMIM:615401
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Halothane Hepatitis
Eosinophilia, Viral hepatitis, Hepatitis, Jaundice OMIM:234350
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Immunodeficiency 19
Lymphopenia OMIM:615617
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Lymphadenopathy OMIM:212050
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Ly... OMIM:603554
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Lymphoid System Deterioration, Progressive
Lymphopenia, Abnormal T cell morphology OMIM:247630
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Lymphopenia OMIM:619164
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Wells Syndrome
Eosinophilia ORPHA:901
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphadenitis, Au... ORPHA:331206
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Hepatic cysts, Eosinophilic liver infiltration OMIM:618999
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Hepatitis, Lympho... ORPHA:169160
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Autoimmune thrombocytopenia, Autoimmune hemolyti... ORPHA:911
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, L... ORPHA:39041
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Roifman Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:616651
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess OMIM:147060
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Eosinophilic Gastroenteritis
Anemia, Leukocytosis, Eosinophilia, Ascites ORPHA:2070
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:617388
Cyclic Neutropenia
Decreased eosinophil count, Peritonitis, Thrombocytopenia, Tooth abscess, Recurrent tonsillitis, ... ORPHA:2686
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:610293
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Leukopenia, Decreased proportion of CD3-positive T cells, Bone m... ORPHA:443811
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Cystic Echinococcosis
Eosinophilia, Abnormality of the pancreas, Biliary tract obstruction, Hepatomegaly, Jaundice, Per... ORPHA:400
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia ORPHA:90045
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Hepatitis, Elev... ORPHA:3261
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Absence of lymph node germinal center, Absent tonsils, B lymphocytopenia, Lymp... ORPHA:277
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Cirrhosis, Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Elevat... OMIM:616860
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, B lymphocytopen... OMIM:607594
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia OMIM:605309
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia, Hepatic cysts OMIM:617425
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Hepatitis, Lymphadenopathy ORPHA:139402
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... OMIM:308240
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... OMIM:615559
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Loeffler Endocarditis
Eosinophilia, Left ventricular hypertrophy ORPHA:75566
Aspergillosis
Neutropenia, Eosinophilia, Hepatitis ORPHA:1163
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Immunodeficiency 23
Eosinophilia, Abscess, Neutropenia, Hemolytic anemia, Lymphopenia OMIM:615816
Alveolar Echinococcosis
Eosinophilia, Biliary cirrhosis, Portal hypertension, Pancreatic cysts, Cutaneous abscess, Cholan... ORPHA:284
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis OMIM:613313
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Hepatitis, Aplastic anemia OMIM:300635
Netherton Syndrome
Hypereosinophilia OMIM:256500
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Immunodeficiency 36
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Immunodeficiency 32B
Splenomegaly OMIM:226990
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Hepatic fibrosis OMIM:619658
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy ORPHA:79477
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Absce... OMIM:618935
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia OMIM:152800
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Cholangitis, Thrombocytosis, Chronic hepatitis, M... ORPHA:3260
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia, Cirrhosis OMIM:604250
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly... ORPHA:824
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Ascit... OMIM:619463
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
Immunodeficiency 54
Lymphadenopathy, Splenomegaly, Hepatomegaly, Reduced natural killer cell count OMIM:609981
Harderoporphyria
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia, Reticulocytosis OMIM:618892
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Prolo... OMIM:300908
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Hepatomegaly, Anemia, Hepatitis, Abnormal hemogl... ORPHA:848
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Babesiosis
Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Thrombocytopenia ORPHA:108
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver di... OMIM:616828
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Splenomegaly, Hemophagocytosis OMIM:618398
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Hepato... ORPHA:508533
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Lymphopenia, Aplasia of the thymus OMIM:242700
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, ... OMIM:194380
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Cholesteryl Ester Storage Disease
Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:75234
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:612526
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:79312
Osteopetrosis, Autosomal Dominant 3
Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hemolytic anemia ORPHA:56425
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:619510
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Acholic sto... ORPHA:1414
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of neu... ORPHA:381
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Pancreatic cysts, Anemia, Thrombocytopenia OMIM:274000
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hepatitis, Normocytic anemia, Macrocytic anemia ORPHA:199299
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... OMIM:616100
Wolman Disease
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Lymphatic Filariasis
Hypereosinophilia, Lymphadenitis, Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic... ORPHA:2035
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, Neutropenia, An... ORPHA:158061
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Hemochromatosis, Type 2A
Cirrhosis, Splenomegaly, Hepatomegaly OMIM:602390
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Leukopenia, Hepatosplenomegaly, Periportal fibrosis, Portal hypertension, Hepa... OMIM:278000
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Igg4-Related Pachymeningitis
Eosinophilia, Lymphadenitis, Pancreatitis ORPHA:449427
Coccidioidomycosis
Eosinophilia, Abnormality of the liver, Peritonitis, Granuloma, Abnormality of the spleen, Lympha... ORPHA:228123
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplasia... OMIM:612541
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:98375
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Acholic stools, Cirrhosis OMIM:613812
Scleroderma
Hypereosinophilia ORPHA:801
Sickle Cell Anemia
Increased red cell sickling tendency, Cholelithiasis, Leukocytosis, Splenomegaly, Hepatomegaly, J... OMIM:603903
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Abnormal pancreas morphology, Retroperitoneal fibrosis, Lymphadenopathy ORPHA:449432
Hurler-Scheie Syndrome
Abnormality of the tonsils, Splenomegaly, Hepatomegaly ORPHA:93476
Farber Lipogranulomatosis
Splenomegaly, Hepatomegaly, Lipogranulomatosis OMIM:228000
Incontinentia Pigmenti
Eosinophilia, Leukocytosis OMIM:308300
Neuraminidase Deficiency
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Ascites, Cardiomegaly OMIM:256550
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation with phytohema... OMIM:600802
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Hepatomegaly, Generalized ... ORPHA:829
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Splenomega... ORPHA:231222
Neonatal Lupus Erythematosus
Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Hemolyti... ORPHA:398124
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic an... ORPHA:288
X-Linked Lymphoproliferative Disease
Pancytopenia, Histiocytosis, Absent natural killer cells, Increased T cell count, Hepatic necrosi... ORPHA:2442
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:391
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:3162
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Incontinentia Pigmenti
Eosinophilia ORPHA:464
Igg4-Related Kidney Disease
Eosinophilia, Enlarged kidney, Sclerosing cholangitis, Lymphadenitis, Cholecystitis, Retroperiton... ORPHA:449395
Felty Syndrome
Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutrope... ORPHA:47612
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:619183
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Cirrhosis OMIM:613027
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Jaundice OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Sitosterolemia 1
Abnormality of the liver, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocytosis... OMIM:210250
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Ne... OMIM:214500
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Micronodular cir... OMIM:606003
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Hepatocellular necrosi... OMIM:251880
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence o... OMIM:613179
Niemann-Pick Disease, Type A
Microcytic anemia, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundic... OMIM:257200
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Ascites ORPHA:2414
Budd-Chiari Syndrome
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Ascites, C... ORPHA:131
Essential Thrombocythemia
Splenomegaly, Acute leukemia, Abnormal platelet morphology ORPHA:3318
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Jaundice ORPHA:90033
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:230800
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Hepatitis, Acute hepa... ORPHA:905
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Hepatosplenomegaly, Absent natural killer cells, Impaired lymphocyte transform... ORPHA:35078
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Igg4-Related Ophthalmic Disease
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Lymphadenopathy, Pancreatitis ORPHA:449563
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, N... ORPHA:158048
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Lymphopenia OMIM:617591
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Acholic sto... OMIM:607765
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Biliary tract obstruction, Splenomegaly, Hepatomegaly, Anemia, Ascites,... ORPHA:77259
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Leukocytosis, Portal hypertension, Cholestasis, Cholangitis, A... ORPHA:53035
Ataxia-Telangiectasia
Lymphopenia, Aplasia/Hypoplasia of the thymus ORPHA:100
Sarcoidosis
Eosinophilia, Leukopenia, Portal hypertension, Increased T cell count, Hepatomegaly, Anemia, Hemo... ORPHA:797
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver... OMIM:233710
Sneddon Syndrome
Lymphopenia OMIM:182410
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice OMIM:618641
Gray Platelet Syndrome
Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia OMIM:139090
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603553
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver... OMIM:233690
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Decreased proportion of CD3-positive T cells, Abnormal lymphatic ves... ORPHA:90362
Chronic Granulomatous Disease
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Liver abscess, Mediastinal lymphadenopathy ORPHA:379
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Cho... ORPHA:540
Legionnaires Disease
Bone marrow hypocellularity, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Pancreatitis, Ly... ORPHA:549
Niemann-Pick Disease, Type C1
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Bone-marrow foam cells, Sea-blue histioc... OMIM:257220
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent platelet dense granules, Splenomegaly, Hepato... OMIM:608233
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Thro... OMIM:267700
Niemann-Pick Disease, Type C2
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Bone-marrow foam cells, Sea-blue histioc... OMIM:607625
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly ORPHA:75565
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenomegaly, Hepato... OMIM:263200
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal eosinophil morphology, Neutropenia, Anemia, Hemolyt... ORPHA:906
Dominant Beta-Thalassemia
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231226
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Thrombocytosis, Interface hepatitis, Autoimmune hemolytic anemia, Impaired lymphocy... OMIM:243150
Sting-Associated Vasculopathy, Infantile-Onset
Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Anemia, Follicular hyperplasia, Lymphop... OMIM:615934
Schimke Immunoosseous Dysplasia
Thrombocytopenia, Neutropenia, Anemia, Lymphopenia, Abnormal T cell morphology OMIM:242900
Beta-Thalassemia Major
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231214
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia OMIM:616084
Common Variable Immunodeficiency
Abnormality of the liver, Autoimmune thrombocytopenia, Splenomegaly, Hemolytic anemia, Lymphadeno... ORPHA:1572
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal splee... ORPHA:464329
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia... ORPHA:508542
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Hepatosplenomegaly, Leukocytosis, Bone marrow hypocellularity, Thromboc... OMIM:615688
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Hepatomegaly, Abscess OMIM:612852
Ebola Hemorrhagic Fever
Acute pancreatitis, Leukopenia, Thrombocytopenia, Hepatitis, Lymphopenia ORPHA:319218
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly, Hepatomegaly OMIM:617050
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Rectal abscess, Ascites, Splenomegaly, Hepatomegaly, Granuloma, Granulomatosis, Ly... OMIM:306400
Cartilage-Hair Hypoplasia
Congenital hypoplastic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutro... OMIM:250250
Trichothiodystrophy 3, Photosensitive
Neutropenia, Lymphopenia, Abdominal adhesions OMIM:616395
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Neutrophilia, Splenomegaly, Lymphadenopathy OMIM:260920
Hyperlipoproteinemia, Type I
Pancreatitis, Hepatosplenomegaly, Jaundice, Splenomegaly OMIM:238600
Gaucher Disease, Type Iiic
Pancytopenia, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:231005
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Mastocytosis
Chronic leukemia, Mastocytosis, Splenomegaly, Hepatomegaly, Acute leukemia ORPHA:98292
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Leukopenia, Normocytic anemia, Accessory sp... OMIM:300972
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Aplastic anemia, Cirrhosis, Lymphopenia OMIM:127550
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Neutropenia, Anemia, Lymph... ORPHA:1830
Pediatric Systemic Lupus Erythematosus
Leukopenia, Lymphopenia, Lymphadenopathy, Ascites, Microangiopathic hemolytic anemia, Thrombocyto... ORPHA:93552
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly ORPHA:33577
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Right ventricular hypertrophy OMIM:616028
Triosephosphate Isomerase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Prolonged neonatal jaun... OMIM:615512
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Bil... ORPHA:567983
Nephrotic Syndrome, Type 14
Lymphopenia OMIM:617575
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Splenomegaly, Hepatome... OMIM:610199
Ataxia-Telangiectasia
T lymphocytopenia, Leukemia, Decreased proportion of CD4-positive helper T cells, Hypoplasia of t... OMIM:208900
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Fusariosis
Abnormality of the liver, Lung abscess, Peritonitis, Neutropenia, Granuloma, Abnormality of the s... ORPHA:228119
Cushing Disease
Leukocytosis, Lymphopenia, Decreased eosinophil count ORPHA:96253
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Bile duct proliferation, Atretic gallbladder, Splenomegaly, Hep... ORPHA:30391
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:607944
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Syndromic Diarrhea
Hepatoblastoma, Abnormality of the liver, Cirrhosis, Thrombocytosis, Splenomegaly, Hepatomegaly, ... ORPHA:84064
Familial Mediterranean Fever
Leukocytosis, Peritonitis, Neutrophilia, Splenomegaly, Hepatomegaly OMIM:249100
Viss Syndrome
Hypereosinophilia, Right ventricular hypertrophy OMIM:619472
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Cervical lymphadenopathy, Hepatomegaly, Generalized lymphadenopathy, Ne... ORPHA:50918
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Abnormality of the pancreas ORPHA:935
Lysinuric Protein Intolerance
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia OMIM:222700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in pres... ORPHA:391487
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Enlarged kidney, Hepatosplenomegaly, Portal hypertension, Cholestasis, Cholangiti... ORPHA:731
Avian Influenza
Leukopenia, Hepatitis, Lymphopenia, Thrombocytopenia ORPHA:454836
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Iron deficien... OMIM:600903
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Decreased eosinophil count, Neoplasm of the thymus, Pancreatic adenocarcinoma, Abno... ORPHA:99889
Immunodeficiency 87 And Autoimmunity
Hepatic steatosis, Cholestasis, Ascites, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Th... OMIM:619573
Whim Syndrome
Neutropenia, Abnormality of neutrophil morphology, Lymphopenia, Lymphadenitis ORPHA:51636
Triglyceride Deposit Cardiomyovasculopathy
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Pancreatitis ORPHA:565612
Hennekam Syndrome
Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Ascites, Lymphopenia ORPHA:2136
Reynolds Syndrome
Biliary cirrhosis, Splenomegaly, Hepatomegaly, Jaundice OMIM:613471
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Primary Sjögren Syndrome
Biliary cirrhosis, Leukopenia, Normocytic anemia, Chronic hepatitis, Decreased proportion of CD4-... ORPHA:289390
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Decreased proportion of naive T cells, Splenomegaly, Anemia, Follicular hyperp... OMIM:619381
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Leukopenia, Pancreatitis, Jaundice, Lymphopenia, Lymphadenopathy,... ORPHA:99826

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 Galr1

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 Galr1.

No publications found that use IMPC mice or data for Galr1.

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MGI Allele Allele Type Produced
Galr1em1(IMPC)H Intra-exon deletion Mice
Galr1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Galr1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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