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Gene: Macroh2a1 MGI:1349392

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

macroH2A.1 histone

Synonyms:

H2AF12M, MACROH2A1.2, H2afy, mH2a1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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 Macroh2a1 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.

Human diseases associated with Macroh2a1 (1 diseases)
Human diseases predicted to be associated with Macroh2a1 (596 diseases)

The table below shows human diseases associated to Macroh2a1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Brachydactyly-Elbow Wrist Dysplasia Syndrome			ORPHA:1275

The table below shows human diseases predicted to be associated to Macroh2a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency 88	Eosinophilia	OMIM:619630
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop...	OMIM:212050
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia...	OMIM:620481
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Copper accumulation in liver	ORPHA:209919
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto...	OMIM:226990
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert...	OMIM:603552
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:615285
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Hemochromatosis, Type 3	Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen...	OMIM:604250
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Elevated circulating C-reactive protein concentration, Anemia, Leukocytosis	OMIM:619398
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo...	OMIM:614470
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein c...	OMIM:607115
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:601859
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Neutropenia, Abnormal T cell morphology	OMIM:613501
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Kimura Disease	Eosinophilia	ORPHA:482
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Eosinophilic Gastroenteritis	Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein conc...	ORPHA:2070
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Wells Syndrome	Eosinophilia	ORPHA:901
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia	OMIM:620443
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia	OMIM:615387
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia	OMIM:617056
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope...	OMIM:304790
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Abnormal T cell morphology	OMIM:613502
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology	ORPHA:3165
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Diarrhea 13	Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:620357
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis	ORPHA:2902
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia	ORPHA:289916
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Immunodeficiency 25	Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia	OMIM:610163
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Eosinophilia	OMIM:620532
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver function	OMIM:616829
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:618400
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level...	OMIM:301110
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Whim Syndrome 1	Neutropenia	OMIM:193670
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An...	ORPHA:158061
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B...	OMIM:619705
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia	ORPHA:39041
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia	ORPHA:169160
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne...	OMIM:615952
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen...	OMIM:618986
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia	ORPHA:79477
Hereditary Folate Malabsorption	Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Ne...	OMIM:614857
Autoinflammation With Arthritis And Dyskeratosis	Elevated circulating C-reactive protein concentration, Splenomegaly, Hypereosinophilia, Autoimmun...	OMIM:617388
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Immunodeficiency 62	Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran...	OMIM:618459
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo...	ORPHA:911
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t...	OMIM:602450
Obesity And Hypopigmentation	Hepatic steatosis	OMIM:620195
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly	OMIM:618999
Specific Granule Deficiency 2	Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia	OMIM:617475
Immunodeficiency 102	Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells...	OMIM:301082
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Roifman Syndrome	Eosinophilia, Splenomegaly	OMIM:616651
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	ORPHA:2643
Igg4-Related Aortitis	Elevated circulating C-reactive protein concentration, Hypereosinophilia	ORPHA:449400
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim...	ORPHA:572
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Glycogen Storage Disease Vi	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen...	OMIM:232700
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Immunodeficiency, Common Variable, 13	Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Cutaneous abscess, Sterile abscess	OMIM:618282
Megaloblastic Anemia, Folate-Responsive	Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Folate-resp...	OMIM:601775
Congenital Enterovirus Infection	Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro...	ORPHA:292
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Immunodeficiency 23	Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia	OMIM:615816
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Absent circulating B cells, Splenomegaly, Hypertriglyceridemia	OMIM:620282
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit...	OMIM:169400
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Neutropenia, Megaloblastic anemia, Hyperhomocystinemia, Hypomethioninemia	OMIM:250940
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count	OMIM:613493
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Increased circulating ferritin concentration, Hypoplasia of th...	OMIM:619313
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Hyperhomocystinemia, Ne...	OMIM:275350
Gracile Syndrome	Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration	ORPHA:53693
Methylmalonic Aciduria, Cblb Type	Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, Elevated ci...	OMIM:251110
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis	ORPHA:436182
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:79084
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le...	OMIM:241600
Propionic Acidemia	Pancytopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Anemia	OMIM:606054
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr...	OMIM:607594
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Immunodeficiency 48	Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Cyclic Neutropenia	Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos...	ORPHA:2686
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Methylmalonic acidemia	OMIM:251000
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Lympho...	ORPHA:1667
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Megaloblas...	OMIM:277380
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc...	ORPHA:2169
Immunodeficiency 110 With Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Neutropenia	OMIM:614868
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly	ORPHA:100024
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia	OMIM:619752
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:398124
X-Linked Agammaglobulinemia	Hypocalcemia, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous abscess formation	ORPHA:47
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:614520
Immunodeficiency 89 And Autoimmunity	Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi...	OMIM:619632
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel...	ORPHA:3261
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ce...	OMIM:243700
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne...	ORPHA:540
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ...	OMIM:264470
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia, Highly elevat...	OMIM:251900
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Eosinophilia, Hypercalcemia	ORPHA:199299
Loeffler Endocarditis	Eosinophilia	ORPHA:75566
Cystic Echinococcosis	Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Eosinophilia	ORPHA:400
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619048
Barth Syndrome	Elevated monolysocardiolipin/cardiolipin ratio, Cyclic neutropenia, Hypochromic microcytic anemia...	OMIM:302060
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Anemia, Methylmalon...	OMIM:251100
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro...	ORPHA:209902
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Thrombocytopenia, B lymphocytopenia, Elevated circulating...	OMIM:618048
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production	OMIM:614900
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hyperammonemia, Neutropenia	OMIM:618253
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neut...	ORPHA:47612
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hepatic failure, Hepatic steatosis	OMIM:617872
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Morbid Obesity And Spermatogenic Failure	Hepatic steatosis	OMIM:615703
Immunodeficiency 92	Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell...	OMIM:619652
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, T lymphocytopenia, B lymphocytopenia	ORPHA:277
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia	OMIM:618108
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, Neutropenia, B lymphocytopenia	OMIM:301081
Evans Syndrome	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe...	OMIM:618528
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver...	ORPHA:54251
Hemochromatosis, Type 4	Hepatomegaly, Cirrhosis, Hepatic steatosis	OMIM:606069
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Neutropenia, Thrombocytop...	OMIM:617303
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia	ORPHA:514
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia	OMIM:612692
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep...	OMIM:615438
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc...	OMIM:618805
Shwachman-Diamond Syndrome	Normocytic anemia, Hypoamylasemia, Bone marrow hypocellularity, Aplastic anemia, Increased mean c...	ORPHA:811
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N...	OMIM:214500
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis	ORPHA:26792
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemi...	ORPHA:1830
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis	ORPHA:280356
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eosinophilia	ORPHA:2314
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Patent ductus arteriosus, Neutropenia	OMIM:612562
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemi...	ORPHA:79284
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutrop...	OMIM:613989
Poikiloderma With Neutropenia	Leukopenia, Splenomegaly, Neutropenia, Elevated circulating creatine kinase concentration	OMIM:604173
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:263400
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:369840
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis	OMIM:608709
Necrotizing Enterocolitis	Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count	OMIM:613496
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Pancreatitis, Elevated circulating...	OMIM:619386
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m...	OMIM:614700
Cartilage-Hair Hypoplasia	Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge...	OMIM:250250
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Neutropenia	OMIM:616395
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutro...	OMIM:613990
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia	OMIM:242900
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Neutropenia	OMIM:617827
Autosomal Agammaglobulinemia	Neutropenia	ORPHA:33110
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th...	OMIM:612541
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia, Elevated circulating C-reactiv...	ORPHA:90051
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Autoimmune hemolytic anemia, Decreased circulating...	ORPHA:37042
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Psoriasis 14, Pustular	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	OMIM:614204
Alveolar Echinococcosis	Cutaneous abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Liver abscess	ORPHA:284
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem...	OMIM:620430
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	ORPHA:1302
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Igg4-Related Pachymeningitis	Elevated circulating C-reactive protein concentration, Eosinophilia	ORPHA:449427
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:3226
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia	ORPHA:1930
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N...	ORPHA:3260
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,...	OMIM:260400
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia	ORPHA:183
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis	OMIM:613877
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Neutropenia, B lymphocytopenia	OMIM:601495
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Reticulo...	OMIM:557000
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Pure red cell aplasia, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Neut...	OMIM:613179
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio...	ORPHA:508533
Mucoepithelial Dysplasia, Hereditary	Eosinophilia	OMIM:158310
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent...	OMIM:600649
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C...	ORPHA:79303
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia	ORPHA:445038
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227650
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis	OMIM:615238
Liver Failure, Infantile, Transient	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he...	OMIM:613070
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu...	OMIM:619644
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Elevated circulating C-reactive protein concentration, Increased proportion of CD4-positive T cel...	OMIM:617099
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulating alanine ...	OMIM:261680
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Immunodeficiency With Hyper-Igm, Type 1	Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia	OMIM:308230
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen...	OMIM:227645
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Neutropenia	OMIM:609053
Combined Oxidative Phosphorylation Deficiency 19	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:615595
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Carnitine Deficiency, Systemic Primary	Elevated circulating aspartate aminotransferase concentration, Decreased carnitine level in liver...	OMIM:212140
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis	OMIM:231530
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Incontinentia Pigmenti	Eosinophilia, Leukocytosis	OMIM:308300
Bardet-Biedl Syndrome 19	Hepatic steatosis	OMIM:615996
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hyperalaninemia, Hyperammonemia, Neutropenia	OMIM:615471
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Mhc Class Ii Deficiency 1	Neutropenia	OMIM:209920
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Cirrhosis, Hepatic steatosis	ORPHA:363400
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hepatic steatosis, Decreased liver function	ORPHA:70472
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati...	OMIM:251880
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:619013
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:300536
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Patent ductus arteriosus	OMIM:274000
Activated Pi3K-Delta Syndrome	Splenomegaly, B lymphocytopenia	ORPHA:397596
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Neutropenia	OMIM:618005
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia	OMIM:617050
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis	ORPHA:79085
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:201450
Vici Syndrome	Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Elevated circulatin...	OMIM:242840
Revesz Syndrome	Macrocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Neutropenia	OMIM:268130
Incontinentia Pigmenti	Eosinophilia	ORPHA:464
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:605911
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreas...	ORPHA:42
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cystathioninemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Thro...	OMIM:277400
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen...	OMIM:227646
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Splenomegaly, Sclerosin...	ORPHA:2137
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia	OMIM:620133
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis	ORPHA:210548
Agammaglobulinemia, X-Linked	Anemia, T lymphocytopenia, Neutropenia, B lymphocytopenia	OMIM:300755
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:615381
Lipodystrophy, Familial Partial, Type 6	Hepatic steatosis	OMIM:615980
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia	OMIM:607944
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:435651
Fusariosis	Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Lung abscess, Neutropenia	ORPHA:228119
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Adult-Onset Still Disease	Bone marrow hypocellularity, Abnormal circulating lipid concentration, Increased circulating ferr...	ORPHA:829
Khan-Khan-Katsanis Syndrome	Anemia, Lymphopenia, Patent ductus arteriosus after premature birth, Neutropenia	OMIM:618460
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Glycogen Storage Disease Ib	Neutropenia, Hyperlipidemia, Splenomegaly, Hyperuricemia	OMIM:232220
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis, Acute hepatic fail...	OMIM:256810
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis	OMIM:201475
Kikuchi-Fujimoto Disease	Leukopenia, Splenomegaly, Anemia, Lymphocytosis, Neutropenia, Thrombocytopenia, Elevated circulat...	ORPHA:50918
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Increased hepatocellu...	ORPHA:71
Hypermethioninemia Due To Adenosine Kinase Deficiency	Cholestasis, Portal fibrosis, Elevated circulating alanine aminotransferase concentration, Hepati...	OMIM:614300
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemia, Megal...	ORPHA:79282
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly,...	OMIM:620565
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:436159
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:449395
Coccidioidomycosis	Abnormality of the spleen, Eosinophilia, Granuloma, Abscess	ORPHA:228123
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c...	OMIM:615486
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis	OMIM:616084
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis	ORPHA:79456
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Pearson Syndrome	Bone marrow hypocellularity, Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenom...	ORPHA:699
3-Methylglutaconic Aciduria, Type V	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:610198
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Lymphocytosis, Thrombocytopenia, Decreased...	OMIM:617718
Lymphatic Filariasis	Hypereosinophilia	ORPHA:2035
Leigh Syndrome	Anemia, Hyperalaninemia, Neutropenia	ORPHA:506
Whim Syndrome	Abnormal neutrophil morphology, Lymphopenia, Neutropenia	ORPHA:51636
Dpm1-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He...	ORPHA:79322
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatic s...	ORPHA:228305
Igg4-Related Ophthalmic Disease	Elevated circulating C-reactive protein concentration, Eosinophilia	ORPHA:449563
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated circulating aspart...	OMIM:617093
Sarcoidosis	Hypercalcemia, Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemoly...	ORPHA:797
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Ele...	OMIM:614921
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:264580
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level	OMIM:103900
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hepatic steatosis	OMIM:604367
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Neutropenia	ORPHA:537
Citrullinemia, Type Ii, Neonatal-Onset	Intrahepatic cholestasis, Portal fibrosis, Elevated circulating aspartate aminotransferase concen...	OMIM:605814
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Adrenomyodystrophy	Hepatic steatosis	ORPHA:977
Igg4-Related Submandibular Gland Disease	Eosinophilia	ORPHA:449432
Rothmund-Thomson Syndrome	Aplastic anemia, Anemia, Neutropenia, Calcinosis, Leukemia	ORPHA:2909
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Patent ductus arteriosus, Recurrent cutaneous abscess formation, Neu...	ORPHA:163956
Pparg-Related Familial Partial Lipodystrophy	Splenomegaly, Hepatic steatosis, Cirrhosis, Pancreatitis, Hepatomegaly	ORPHA:79083
Sweet Syndrome	Leukocytosis, Chronic lymphatic leukemia, Anemia, Acute myeloid leukemia, Sterile abscess, Neutro...	ORPHA:3243
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Elevated circulating C-reactive protein concentration, Splenomegaly, Abscess, Neutrophilia	OMIM:612852
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Severe B lymphocytopenia	ORPHA:293978
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Anemia, Neutropenia, Calcinosis, Leukemia	ORPHA:221008
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Cohen Syndrome	Neutropenia	ORPHA:193
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis	ORPHA:2348
Cartilage-Hair Hypoplasia	Anemia, Hypocalcemia, Neutropenia	ORPHA:175
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis	ORPHA:52430
Trichothiodystrophy	Anemia, Increased mean corpuscular hemoglobin concentration, Neutropenia	ORPHA:33364
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Anemia, Neutropenia, Calcinosis, Leukemia	ORPHA:221016
Mitochondrial Neurogastrointestinal Encephalomyopathy	Macrovesicular hepatic steatosis, Cirrhosis, Elevated circulating hepatic transaminase concentration	ORPHA:298
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ...	OMIM:611126
Glycogen Storage Disease Ic	Cyclic neutropenia, Hyperlipidemia, Hyperuricemia	OMIM:232240
Congenital Generalized Lipodystrophy	Hepatomegaly, Cirrhosis, Hepatic steatosis	ORPHA:528
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:212138
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Anemia, Abnormal myelo...	ORPHA:79259
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Hepatic steatosi...	ORPHA:98907
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ...	ORPHA:35078
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis	ORPHA:435660
Citrullinemia Type Ii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Pan...	ORPHA:247585
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Hepatic steatosis, Hepatic periportal necrosis	OMIM:231680
Pediatric-Onset Graves Disease	Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies	ORPHA:525731
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Anemia, Patent ductus ...	OMIM:620005
Intellectual Developmental Disorder, Autosomal Dominant 54	Neutropenia	OMIM:617799
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa...	OMIM:619418
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Po...	OMIM:619487
Selective Igm Deficiency	Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi...	ORPHA:331235
Hermansky-Pudlak Syndrome	Neutropenia	ORPHA:79430
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Eosinophilia, Splenomegaly	ORPHA:75565
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Elevated circulating amyloid A concentration, Neutrophilia, Elevated ...	OMIM:249100
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess formation	OMIM:147060
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pancreatitis, Hepatic steatosis	OMIM:236200
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:99901
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	OMIM:610717
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:608836
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia	OMIM:271510
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona...	OMIM:619377
3-Methylglutaconic Aciduria, Type Viii	Patent ductus arteriosus, Neutropenia	OMIM:617248
19P13.12 Microdeletion Syndrome	Hepatic steatosis	ORPHA:254346
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho...	OMIM:208900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Hepatic necrosis, Hepatic steatosis, Elevated circulating hepatic transami...	ORPHA:71212
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatosplenomegaly, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hypersple...	ORPHA:228426
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:348
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p...	ORPHA:391487
Combined Oxidative Phosphorylation Deficiency 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ...	OMIM:614924
Acquired Generalized Lipodystrophy	Hepatomegaly, Cirrhosis, Acute pancreatitis, Hepatic steatosis	ORPHA:79086
Alg12-Cdg	Hypoalbuminemia, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B lymphocytopenia, Patent d...	ORPHA:79324
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis	OMIM:210200
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Splenomegaly, Elevated circulating hepatic transaminase concentration, Hepatic stea...	OMIM:613327
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	ORPHA:98908
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
D-Bifunctional Protein Deficiency	Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic steatosis, Splenome...	OMIM:261515
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Neoplasm of the pancreas	ORPHA:2959
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Hepatic steatosis	ORPHA:412
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Microvesic...	OMIM:617156
Familial Chylomicronemia Syndrome	Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Jaundice, Acute pancreatitis	ORPHA:444490
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis	OMIM:620601
Cushing Disease	Lymphopenia, Decreased eosinophil count, Leukocytosis	ORPHA:96253
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	ORPHA:320
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic ...	OMIM:212065
Zygomycosis	Brain abscess, Splenic abscess, Neutropenia	ORPHA:73263
Seckel Syndrome 10	Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu...	OMIM:617253
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis	OMIM:616672
Combined Oxidative Phosphorylation Deficiency 37	Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Bile d...	OMIM:618329
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Decreased liver function, Diffuse hepatic steatosis	ORPHA:436271
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ...	ORPHA:221139
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Chronic neutropenia	ORPHA:500095
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Reduced natural killer cell count, Decreased proportion of naive T cells, Spleno...	OMIM:619381
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Absent circulating B cells	OMIM:307200
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level	OMIM:615474
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hepatic failure, Hepatic steatosis, Hepatic calcification	ORPHA:228308
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa...	OMIM:616263
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol...	ORPHA:93111
Monosomy 13Q34	Hepatic steatosis	ORPHA:96168
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis	ORPHA:280365
Viss Syndrome	Hypereosinophilia, Patent ductus arteriosus	OMIM:619472
Wilson Disease	Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated circulating aspartate aminotran...	OMIM:277900
Mitochondrial Trifunctional Protein Deficiency	Cholestasis, Chronic hepatic failure, Diffuse hepatic steatosis	ORPHA:746
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Increased intramyocellular lipid droplets, Decreased liver function, Increased hepa...	OMIM:220110
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia	OMIM:251260
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:615356
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Microvesicular hepatic steatosis	ORPHA:66634
Hyper-Igd Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Neutrophilia	OMIM:260920
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Lipid accumulation in hepatocytes, Hepat...	ORPHA:20
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Abetalipoproteinemia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cir...	ORPHA:14
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Hypocalcemia, Hyper...	OMIM:619991
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	OMIM:124000
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:275761
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased intramyocellular...	ORPHA:17
Aspartylglucosaminuria	Vacuolated lymphocytes, Neutropenia	OMIM:208400
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	OMIM:619573
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Hepatic...	ORPHA:247598
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos...	OMIM:608594
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Cholestasis, P...	OMIM:613658
Arima Syndrome	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis	OMIM:243910
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hepatic steatosis	ORPHA:189427
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cirrhosis, Hepatomega...	OMIM:229600
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Hepatic steatosis	OMIM:151660
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Elevated...	OMIM:619525
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90795
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Neutropenia	ORPHA:95455
Alstrom Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Chronic...	OMIM:203800
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula...	ORPHA:99829
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos...	OMIM:269700
Dermatomyositis	Abnormal eosinophil morphology, Elevated circulating creatine kinase concentration	ORPHA:221
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	ORPHA:404454
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, B lymphocytopenia	ORPHA:83617
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Splenomegaly, Hepatitis, Hepatic steatosis	OMIM:615846
Cushing Syndrome Due To Ectopic Acth Secretion	Lymphopenia, Decreased eosinophil count, Leukocytosis	ORPHA:99889
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90793
Sponastrime Dysplasia	Neutropenia	ORPHA:93357
Bloom Syndrome	Hepatic steatosis	OMIM:210900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hepatosplenomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis	OMIM:618278
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis	OMIM:619934
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Cirrhosis, Elevated hepatic iron concentration, Microvesicular hepatic steatosis	OMIM:300868
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	OMIM:202010
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:619475
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hepatic steatosis, Splenomegaly, Cirrhosis, Hepatomegaly	OMIM:270400
Aromatase Deficiency	Hepatic steatosis	ORPHA:91
Ogden Syndrome	Jaundice, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis	OMIM:300855
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99226
1P36 Deletion Syndrome	Abnormality of the spleen, Abnormality of the liver, Annular pancreas, Hepatic steatosis	ORPHA:1606
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent...	OMIM:619127
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Hepatosplenomegaly, Portal hypertension, Hepatic steatosis	OMIM:619503
Bardet-Biedl Syndrome	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:110
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hepatic steatosis	OMIM:619321
Atypical Werner Syndrome	Hepatic steatosis	ORPHA:79474
Wiedemann-Rautenstrauch Syndrome	Hepatic steatosis	ORPHA:3455
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets	OMIM:220111
Digeorge Syndrome	Splenomegaly, Cholelithiasis, Hepatic steatosis	OMIM:188400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Decreased circulating renin level	OMIM:201750
Alström Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat...	ORPHA:64
Homozygous Familial Hypercholesterolemia	Hepatic steatosis	ORPHA:391665
Brachydactyly-Elbow Wrist Dysplasia Syndrome		ORPHA:1275

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 Macroh2a1

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 Macroh2a1.

No publications found that use IMPC mice or data for Macroh2a1.

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
Macroh2a1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Macroh2a1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Macroh2a1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Macroh2a1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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