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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

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 Similarity of
phenotypes
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
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 88
Eosinophilia OMIM:619630
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis 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
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci... OMIM:620481
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, 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
Copper accumulation in liver, Cirrhosis, Hepatic steatosis ORPHA:209919
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Eosinophili... OMIM:226990
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Increased circula... OMIM:603552
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con... OMIM:617243
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia OMIM:615285
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Hemochromatosis, Type 3
Anemia, Increased circulating iron concentration, Lymphopenia, Elevated transferrin saturation, I... OMIM:604250
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Cinca Syndrome
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenomegaly, ... OMIM:607115
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:601859
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
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
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... ORPHA:2070
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia OMIM:620443
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Wells Syndrome
Eosinophilia ORPHA:901
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... OMIM:308240
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:603909
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... 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
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly, Neutropenia OMIM:615387
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD... OMIM:150550
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem... OMIM:304790
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:2902
Diarrhea 13
Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:620357
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia 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
Decreased liver function, Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:616829
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:618400
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele... OMIM:301110
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Macrophage Activation Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Elevated circ... ORPHA:158061
Whim Syndrome 1
Neutropenia OMIM:193670
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce... OMIM:619705
Omenn Syndrome
Anemia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia ORPHA:39041
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Eosinophilia, Hepatosplenomegaly, Lymphopenia ORPHA:169160
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... OMIM:615952
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia ORPHA:79477
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Hereditary Folate Malabsorption
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia ORPHA:90045
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Bone marrow hypocellularity, Ag... OMIM:301078
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly, Elevated circulating C-reactive pro... OMIM:617388
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Elevated circulating propionylc... OMIM:614857
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... OMIM:619220
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Immunodeficiency 62
B lymphocytopenia, Autoimmune thrombocytopenia, Increased proportion of transitional B cells, Dec... 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
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low T cell recept... OMIM:602450
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia OMIM:617475
Immunodeficiency 102
Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor... OMIM:301082
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly ORPHA:353298
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:572
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia ORPHA:293173
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,... ORPHA:158048
Glycogen Storage Disease Vi
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... OMIM:232700
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytopeni... ORPHA:292
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia OMIM:616873
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Sterile abscess OMIM:618282
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Absent circulating B cells, Splenomegaly, Pancytopenia OMIM:620282
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,... ORPHA:98850
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Hyperhomocystinemia, Megaloblastic anemia, Hypomethioninemia, Neutropenia OMIM:250940
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph... OMIM:102700
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve... OMIM:241600
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-switched memory B cells OMIM:613493
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Reticulocytop... OMIM:275350
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Anemia, Pancyt... OMIM:251110
Propionic Acidemia
Anemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyperglycinemia, Neutropenia OMIM:606054
Gracile Syndrome
Elevated hepatic iron concentration, Cirrhosis, Cholestasis, Hepatic steatosis ORPHA:53693
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:79084
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Immunodeficiency 48
Absence of CD8-positive T cells, Impaired lymphocyte transformation with phytohemagglutinin, Sple... OMIM:269840
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Absent circulating B cells OMIM:613500
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Decreased eosinophil count, Cycli... ORPHA:2686
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbu... ORPHA:1667
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hyperammonemia, Thrombocytopenia, Leukopenia, Hyperglycinemia, Neutropenia OMIM:251000
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia OMIM:246400
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Anemia, Pancytopenia, Hyperhomocystinemia, Megaloblastic anemia, Cystathi... OMIM:277380
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Decreased e... OMIM:619632
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Hypometh... ORPHA:2169
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Mu-Heavy Chain Disease
Anemia, Splenomegaly, Abnormal B cell count ORPHA:100024
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Thrombocytopenia, Recurrent cutaneous abscess formation, Neutropenia ORPHA:47
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Neutropenia, Lymphopenia OMIM:614868
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, ... ORPHA:540
Neonatal Lupus Erythematosus
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia ORPHA:398124
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Highly elevated creatine kinase, Microcytic anemia, Elevated circulating creatine kinase concentr... OMIM:251900
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Lymphocytosis, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:3261
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell co... OMIM:243700
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:264470
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Hypercalcemia, Eosinophilia ORPHA:199299
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Cystic Echinococcosis
Splenic cyst, Hyperbilirubinemia, Peritoneal abscess, Eosinophilia, Abscess ORPHA:400
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Anemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyperglycinemia, ... OMIM:251100
Barth Syndrome
Hypochromic microcytic anemia, Elevated monolysocardiolipin/cardiolipin ratio, Cyclic neutropenia... OMIM:302060
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:619048
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thrombocytopenia, Decre... OMIM:618048
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H... ORPHA:209902
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Immunodeficiency 68
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hyperammonemia, Neutropenia OMIM:618253
Acute Promyelocytic Leukemia
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:520
Netherton Syndrome
Hypereosinophilia OMIM:256500
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... ORPHA:91547
Felty Syndrome
Anemia, Abnormal lymphocyte morphology, Bone marrow hypocellularity, Thrombocytopenia, Splenomega... ORPHA:47612
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Elevated circulating C-reactive protein concentration, Neutrophilia, Brain... ORPHA:54251
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic steatosis, Hepatic failure OMIM:617872
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis OMIM:615703
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... ORPHA:508542
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, T lymphocytopenia ORPHA:277
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:618108
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Hepatosplenomegaly, Neutropenia OMIM:301081
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani... OMIM:618528
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Mucopolysaccharidosis-Plus Syndrome
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Splenomegaly, Patent ductus ar... OMIM:617303
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Hepatic steatosis OMIM:606069
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic 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
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... ORPHA:811
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase... OMIM:615438
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Hyperlipidemia, Decreased proportion of naive C... ORPHA:1830
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Leukopenia, Splenomegaly, Impaired neutrophil bactericidal activity, Th... OMIM:214500
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis ORPHA:26792
Poikiloderma With Neutropenia
Elevated circulating creatine kinase concentration, Leukopenia, Splenomegaly, Neutropenia OMIM:604173
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Periportal fibrosis, Portal hypertension, Elevated circulating alanine a... OMIM:278000
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis ORPHA:280356
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hyperhomocystinemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentratio... ORPHA:79284
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia ORPHA:2314
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Myocardial necrosis, Persistence of hemoglobin F, T... OMIM:260400
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Patent ductus arteriosus, Macrocytic anemia, Neutropenia OMIM:612562
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Neutrop... OMIM:613989
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:263400
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:369840
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased proportion of memory B cells ORPHA:70593
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis OMIM:608709
Necrotizing Enterocolitis
Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Abnormal T cell count, Abnormal B cell count OMIM:613496
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... OMIM:614700
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:619386
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Lymphopeni... OMIM:250250
Trichothiodystrophy 3, Photosensitive
Neutropenia, Lymphopenia OMIM:616395
Kasabach-Merritt Phenomenon
Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop... ORPHA:2330
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Bone marrow hypocellularity, Leukopenia... OMIM:613990
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Immunodeficiency 70
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells OMIM:618969
Sepsis In Premature Infants
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Sp... ORPHA:90051
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega... ORPHA:37042
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia OMIM:242900
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:614204
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Patent ductus arteriosus, Hypoplasia of the thymu... OMIM:612541
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1302
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto... ORPHA:167
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1930
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Elevated circulating C-reactive protein... OMIM:301074
Alveolar Echinococcosis
Liver abscess, Anemia, Abnormal spleen morphology, Eosinophilia, Cutaneous abscess ORPHA:284
Igg4-Related Pachymeningitis
Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449427
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Abnormal ... OMIM:620430
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Bone marrow... ORPHA:3226
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Idiopathic Hypereosinophilic Syndrome
Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly... ORPHA:3260
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ... OMIM:613179
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:600901
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyperbilirubinemia, Reticulocytopenia, Sid... OMIM:557000
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, B lymphocytopenia, Neutropenia OMIM:601495
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:614582
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proportion of CD4-posi... ORPHA:508533
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatosplenomegaly, Splenomegaly, Enlarged platelet dense granule... OMIM:608233
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... ORPHA:79303
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia ORPHA:445038
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Macrovesicular hepatic ste... OMIM:600649
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227650
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Increased prop... OMIM:617099
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Thrombocyt... OMIM:619644
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Inc... OMIM:261680
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia OMIM:308230
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukemia,... OMIM:227645
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Neutropenia OMIM:609053
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615966
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Reduced muscle carnitine level, Decreased carniti... OMIM:212140
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Leukopenia, Neutropenia OMIM:616271
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel... ORPHA:906
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hyperammonemia, Hyperalaninemia, Neutropenia OMIM:615471
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis OMIM:231530
Incontinentia Pigmenti
Eosinophilia, Leukocytosis OMIM:308300
Bardet-Biedl Syndrome 19
Hepatic steatosis OMIM:615996
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Bare Lymphocyte Syndrome, Type Ii
Neutropenia OMIM:209920
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatomegaly, Hepatic steatosis ORPHA:363400
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Hepatic steatosis ORPHA:70472
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly OMIM:619013
Ddost-Cdg
Hepatic steatosis, Elevated circulating hepatic transaminase concentration ORPHA:300536
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Thrombocytopenia-Absent Radius Syndrome
Anemia, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Patent ductus arteriosus, Eosinophilia OMIM:274000
Activated Pi3K-Delta Syndrome
B lymphocytopenia, Splenomegaly 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
Vici Syndrome
Elevated circulating creatine kinase concentration, T lymphocytopenia, Decreased proportion of CD... OMIM:242840
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:201450
Revesz Syndrome
Aplastic anemia, Bone marrow hypocellularity, Macrocytic anemia, Neutropenia OMIM:268130
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukopenia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:36238
Incontinentia Pigmenti
Eosinophilia ORPHA:464
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:605911
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Cystathioninemia, Hypomethioni... OMIM:277400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transamin... ORPHA:42
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Dyskeratosis Congenita, Autosomal Recessive 8
B lymphocytopenia, Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Fanconi Anemia, Complementation Group D2
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Patent du... OMIM:227646
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis ORPHA:210548
Agammaglobulinemia, X-Linked
B lymphocytopenia, Neutropenia, Anemia, T lymphocytopenia OMIM:300755
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Anemia, Elevated circulating C-reactive protein concent... ORPHA:829
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevate... OMIM:615381
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis OMIM:615980
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia OMIM:607944
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, B lymphocytopenia, T lymphocytopenia, Hepatosplenomegaly, Decreased ... OMIM:606367
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:435651
Fusariosis
Lung abscess, Brain abscess, Granuloma, Abnormality of the spleen, Lymphopenia, Neutropenia ORPHA:228119
Glycogen Storage Disease Ib
Hyperuricemia, Hyperlipidemia, Splenomegaly, Neutropenia OMIM:232220
Khan-Khan-Katsanis Syndrome
Patent ductus arteriosus after premature birth, Neutropenia, Anemia, Lymphopenia OMIM:618460
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:255120
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Intraalveolar... OMIM:620565
Kikuchi-Fujimoto Disease
Anemia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Leukopenia, Splenom... ORPHA:50918
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Elevated circulating palmitole... ORPHA:79282
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Hepatic steatosis, Periportal fibrosis OMIM:201475
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le... ORPHA:449395
Chylomicron Retention Disease
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Increased hepatocellu... ORPHA:71
Hypermethioninemia Due To Adenosine Kinase Deficiency
Cholestasis, Hepatic steatosis, Portal fibrosis, Elevated circulating alanine aminotransferase co... OMIM:614300
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... ORPHA:436159
Coccidioidomycosis
Granuloma, Eosinophilia, Abscess, Abnormality of the spleen ORPHA:228123
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Decreased... OMIM:617718
Pearson Syndrome
Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, Bone marrow hy... ORPHA:699
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Schistocytosis OMIM:616084
Diffuse Cutaneous Mastocytosis
Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen ORPHA:79456
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:610198
Leigh Syndrome
Anemia, Hyperalaninemia, Neutropenia ORPHA:506
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Igg4-Related Ophthalmic Disease
Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449563
Whim Syndrome
Neutropenia, Abnormal neutrophil morphology, Lymphopenia ORPHA:51636
Dpm1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hepati... ORPHA:79322
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic... ORPHA:228305
Sarcoidosis
Anemia, Increased T cell count, Leukopenia, Thrombocytopenia, Hypercalcemia, Eosinophilia, Hemoly... ORPHA:797
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... OMIM:614921
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating hepatic transaminase con... ORPHA:264580
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis OMIM:604367
Toxic Epidermal Necrolysis
Thrombocytopenia, Anemia, Neutropenia ORPHA:537
Citrullinemia, Type Ii, Neonatal-Onset
Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Portal fibrosis, Microvesi... OMIM:605814
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminot... OMIM:617093
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Accessory splee... OMIM:300972
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Rothmund-Thomson Syndrome
Aplastic anemia, Calcinosis, Anemia, Leukemia, Neutropenia ORPHA:2909
Sweet Syndrome
Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein concentration, Chronic ly... ORPHA:3243
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly, Elevated circulating C-reactive protein concentration OMIM:612852
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Patent ductus arteriosus, Neonatal hyperbilirubinemia, Neu... ORPHA:163956
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatomegaly, Pancreatitis, Splenomegaly, Hepatic steatosis ORPHA:79083
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Hepatic... ORPHA:541423
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con... OMIM:616433
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lymphocytopenia ORPHA:293978
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Calcinosis, Anemia, Leukemia, Neutropenia ORPHA:221008
Cartilage-Hair Hypoplasia
Hypocalcemia, Anemia, Neutropenia ORPHA:175
Cohen Syndrome
Neutropenia ORPHA:193
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly ORPHA:2348
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia ORPHA:33364
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Calcinosis, Anemia, Leukemia, Neutropenia ORPHA:221016
Glycogen Storage Disease Ic
Cyclic neutropenia, Hyperlipidemia, Hyperuricemia OMIM:232240
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatosis ORPHA:298
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Hepati... OMIM:611126
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Anemia, Hyperuricemia, Chronic neutropenia, Hyperlipidemia, Hypercholestero... ORPHA:79259
Congenital Generalized Lipodystrophy
Cirrhosis, Hepatomegaly, Hepatic steatosis ORPHA:528
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Hepatic steatosis OMIM:614922
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, In... ORPHA:98907
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,... ORPHA:35078
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:212138
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:435660
Citrullinemia Type Ii
Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentration, Hepatocellul... ORPHA:247585
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic steatosis, Hepatic periportal necrosis OMIM:231680
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly ORPHA:525731
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Patent ductus arteriosus, Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, L... OMIM:620005
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Accessory spleen, Microvesicular hepatic stea... OMIM:619418
Familial Mediterranean Fever
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, Splenomegaly, ... OMIM:249100
Tropical Endomyocardial Fibrosis
Eosinophilia, Hypoalbuminemia, Splenomegaly ORPHA:75565
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Neutr... ORPHA:331235
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Portal... OMIM:619487
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent cutaneous abscess formation, Eosinophilia, Cutaneous abscess OMIM:147060
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pancreatitis, Hepatic steatosis OMIM:236200
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Hepatic steatosis, Elevated circulating hepatic transaminase concentration ORPHA:99901
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Sple... OMIM:610717
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:608836
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Osteootohepatoenteric Syndrome
Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundice, Hepa... OMIM:619377
3-Methylglutaconic Aciduria, Type Viii
Patent ductus arteriosus, Neutropenia OMIM:617248
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased proportion o... OMIM:208900
19P13.12 Microdeletion Syndrome
Hepatic steatosis ORPHA:254346
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Hypersplenism, Pancytop... ORPHA:228426
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Hepatic steatosis, Hepatic necrosis, Elevated circulating hepatic transami... ORPHA:71212
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:348
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod... ORPHA:391487
Alg12-Cdg
B lymphocytopenia, Hyponatremia, Thrombocytopenia, Patent ductus arteriosus, Hypoalbuminemia, Hyp... ORPHA:79324
Acquired Generalized Lipodystrophy
Acute pancreatitis, Cirrhosis, Hepatomegaly, Hepatic steatosis ORPHA:79086
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr... OMIM:614924
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis OMIM:210200
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenom... OMIM:613327
Neutral Lipid Storage Myopathy
Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Incr... ORPHA:98908
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis OMIM:619273
D-Bifunctional Protein Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bile duct pro... OMIM:261515
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentration ORPHA:2959
Dysbetalipoproteinemia
Acute pancreatitis, Hepatomegaly, Hepatic steatosis ORPHA:412
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa... OMIM:617156
Familial Chylomicronemia Syndrome
Jaundice, Acute pancreatitis, Hepatosplenomegaly, Recurrent pancreatitis, Hepatic steatosis ORPHA:444490
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Cushing Disease
Lymphopenia, Leukocytosis, Decreased eosinophil count ORPHA:96253
Zygomycosis
Splenic abscess, Brain abscess, Neutropenia ORPHA:73263
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:212065
Seckel Syndrome 10
Acute pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase concentratio... OMIM:617253
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Bile duct proliferation, Elevated circulating hepatic transaminase conc... OMIM:618329
Immunodeficiency 82 With Systemic Inflammation
Anemia, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Decreased propo... OMIM:619381
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Diffuse hepatic steatosis ORPHA:436271
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer ce... ORPHA:221139
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Transient neutropenia ORPHA:500095
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia OMIM:617107
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Absent circulating B cells OMIM:307200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1