Gene Summary

Name:
syntaxin 11
Synonyms:
5830405C08Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Stx11em1(IMPC)Mbp HOM Early adult 0.00
small kidney Stx11em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Stx11em1(IMPC)Mbp HOM Early adult 0.00
increased blood urea nitrogen level Stx11em1(IMPC)Mbp HOM Early adult 9.53×10-08
increased heart weight Stx11em1(IMPC)Mbp HOM Early adult 1.18×10-05
abnormal heart morphology Stx11em1(IMPC)Mbp HOM Early adult 0.00
increased lymphocyte cell number Stx11em1(IMPC)Mbp HOM Early adult 5.70×10-07

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Stx11 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 Stx11 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Recurrent fever, Fever, Hemophagocytosis, Splenomeg... OMIM:603552
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... ORPHA:540

The table below shows human diseases predicted to be associated to Stx11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o... OMIM:613501
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent fever, Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, S... OMIM:308240
Immunodeficiency 69
Increased circulating ferritin concentration, Failure to thrive, Fever, Leukocytosis, Splenomegal... OMIM:618963
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Recurrent fever, Fever, Hemophagocytosis, Splenomeg... OMIM:613101
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies... OMIM:615285
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Recurrent fever, Fever, Hemophagocytosis, Splenomeg... OMIM:300635
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia OMIM:615214
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Recurrent fever, Fever, Failure to thrive, Elevated... OMIM:616050
Immunodeficiency 50
Lymphopenia, Recurrent urinary tract infections, Decreased circulating antibody level, Neutropeni... OMIM:300988
Hemophagocytic Lymphohistiocytosis, Familial, 3
Fever, Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activi... OMIM:608898
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Panhypogammagl... ORPHA:572
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... OMIM:614470
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
Immunodeficiency 105
Decreased circulating IgA level, Fever, Lymphopenia, Decreased circulating IgG level, Decreased c... OMIM:619924
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Recurrent fever, Decreased circulating IgG level, E... OMIM:613011
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody l... OMIM:616740
Leishmaniasis
Recurrent fever, Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macroph... ORPHA:507
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Abnormal megakaryocyte morphology, Hyposegmentation of neutrophi... ORPHA:75564
Lymphoproliferative Syndrome 2
EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Fever, Hemophagocytosi... OMIM:615122
Immunodeficiency 18
Recurrent gastroenteritis, Defective T cell proliferation, Lymphopenia, Recurrent otitis media, D... OMIM:615615
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Adult Idiopathic Neutropenia
Bone marrow hypercellularity, Fever, Recurrent fungal infections, Lymphopenia, Abnormality of bon... ORPHA:2688
Whim Syndrome 1
Bone marrow hypercellularity, Abnormality of bone marrow cell morphology, Decreased circulating I... OMIM:193670
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism OMIM:183350
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Decreased circul... OMIM:300400
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... OMIM:616873
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Ethanolaminosis
Cardiomegaly OMIM:227150
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Increased circulating antibody level, Fever, Increased circulating Ig... ORPHA:169154
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Decreased proportion of CD8... OMIM:614493
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Can... OMIM:619281
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent fever, Increased circulating antibody level, Elevated circulating C-reactive protein co... OMIM:615559
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent otitis media, Recurrent... OMIM:616022
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Partial absen... OMIM:618986
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Immunodeficiency 20
Recurrent oral herpes, Severe varicella zoster infection, Reduced natural killer cell activity, R... OMIM:615707
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Recurrent fever, Fever, Hemophagocytosis, Splenomeg... OMIM:603552
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Fever, Neutropenia, Elevated circulating C-reactive... ORPHA:158057
Transcobalamin Ii Deficiency
Failure to thrive, Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level,... OMIM:275350
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Recurrent fever, Fever, Failure to thrive, Coma, He... OMIM:603553
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Megakaryocyte dysplasia, Pancytopenia, Bone marro... OMIM:619041
Acute Erythroid Leukemia
Bone marrow hypercellularity, Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocel... ORPHA:318
Amegakaryocytic Thrombocytopenia, Congenital
Megakaryocytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal cytokine signaling, Seve... ORPHA:158048
Malaria
Fever, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Reduced conscio... ORPHA:673
Whim Syndrome 2
Myelokathexis, Severe infection, Chronic neutropenia, Recurrent gingivitis OMIM:619407
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Fever, Decreased circulating IgG level, Splenomegaly, Decreased ... OMIM:618394
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Granulocytic hypoplasia, Neutropenia, Erythroid hypoplasia OMIM:618310
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... OMIM:614868
Reticular Dysgenesis
Failure to thrive, Fever, Leukopenia, Sepsis, Abnormality of neutrophils, Weight loss, Decreased ... ORPHA:33355
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herpes, Fluctuating splenome... OMIM:619220
Isovaleric Acidemia
Coma, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Lethargy OMIM:243500
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Cyclic Neutropenia
Cyclic neutropenia, Fever, Neutropenia OMIM:162800
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Failure to thrive, Recurrent infections, Panhypogammaglobulinemia ORPHA:251009
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... ORPHA:540
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Failure to thrive, Recurrent fungal infections, Recurrent viral i... OMIM:209920
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Sterile abscess, Hepatosplenomegaly, Throm... OMIM:604416
Immunodeficiency 102
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Sepsis, B lym... OMIM:301082
Congenital Enterovirus Infection
Hypothermia, Fever, Leukocytosis, Hyperammonemia, Leukopenia, Sepsis, Abnormal macrophage morphol... ORPHA:292
Hereditary Folate Malabsorption
Megaloblastic anemia, Failure to thrive, Eosinophilia, Recurrent urinary tract infections, Decrea... ORPHA:90045
Aregenerative Anemia
Abnormality of interleukin secretion, Fever, Abnormal proportion of CD8-positive T cells, Neutrop... ORPHA:101096
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Abnormal serum interferon-gamma level, Recurrent enteroviral infection... ORPHA:79124
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Decreased circulating I... ORPHA:331206
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Coma, Hyperammonemia, Pancytopenia, Hyperglycinemia, Methylmalonic acidemia, N... OMIM:251110
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Fever, Hemophagocytosis, Splenomegaly, Hypertriglyc... OMIM:618398
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... OMIM:308230
Mu-Heavy Chain Disease
Increased circulating antibody level, Fever, Abnormality of bone marrow cell morphology, Splenome... ORPHA:100024
Thrombocytopenia 2
Increased megakaryocyte colony forming unit count, Thrombocytopenia, Leukocytosis OMIM:188000
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Fever, Increased circulating IgA level, Elevated circulating C-reactive protei... OMIM:618048
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Recurrent infections, Neutropenia, Thrombocytopenia, Folate-respon... OMIM:229050
Immunodeficiency 21
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... OMIM:614172
Autoinflammatory-Pancytopenia Syndrome
Recurrent fever, Failure to thrive, Fever, Hemophagocytosis, Hepatosplenomegaly, Severe Epstein B... OMIM:619858
Primary Myelofibrosis
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Fever, Abnormality of bone marro... ORPHA:824
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Immunodeficiency 27A
Histiocytosis, Fever, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG l... OMIM:209950
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Decreased proportion of CD4+CD25+... OMIM:619802
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Decreased circulating IgG level, Myelofibrosis, Hemophagocytosis, Splenom... OMIM:301078
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Coma, Hyperammonemia, Anemia, Lethargy ORPHA:28
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia OMIM:617243
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Coma, Hyperammonemia, Pancytopenia, Hyperglycinemia, Methylmalonic acidemia, N... OMIM:251100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Decreased circulating IgA level, Recurrent otitis media, Decreased circulating... OMIM:614700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Coma, Hyperammonemia, Sepsis, Neutropenia, Anemia, Thrombocytopenia, Lethargy ORPHA:289916
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Macrocytic ... ORPHA:2169
X-Linked Agammaglobulinemia
Failure to thrive, Fever, Hypocalcemia, Sepsis, Meningitis, Weight loss, Recurrent pneumonia, Neu... ORPHA:47
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Coma, Hyperammonemia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Let... ORPHA:79312
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Primary Erythromelalgia
Hypothermia, Leukemia, Abnormality of thrombocytes, Recurrent respiratory infections ORPHA:90026
Propionic Acidemia
Failure to thrive, Coma, Hyperammonemia, Pancytopenia, Hyperglycinemia, Neutropenia, Anemia, Thro... OMIM:606054
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Splenomegaly, Impaired ... OMIM:614576
Bone Marrow Failure Syndrome 1
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia OMIM:614675
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Inappropriate... OMIM:618944
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia, Lethargy OMIM:615026
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Neutropenia in pres... OMIM:613179
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Failure to thrive, Hyperhomocystinemia, Pancytopenia, Cystathioninemia, Met... OMIM:277380
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Dysplastic granulopoesis, Fever, Abnormality of bone marrow cell... ORPHA:86839
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Idiopathic Aplastic Anemia
Pancytopenia, Recurrent infections, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocyto... ORPHA:88
Griscelli Syndrome Type 2
Fever, Hyperlipidemia, Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia ORPHA:79477
Mantle Cell Lymphoma
Fever, Weight loss, Abnormality of bone marrow cell morphology, Splenomegaly ORPHA:52416
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, B lymphocytopeni... ORPHA:2442
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hype... OMIM:614857
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... ORPHA:158061
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Lymphopenia, Recurrent upper respiratory tract infect... ORPHA:277
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia, Failure to thrive, Hypomethioninemia, Hyperhomocystinemia, Lethargy OMIM:236270
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... OMIM:251190
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... OMIM:618116
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Increased serum iron, Neutropenia, Ane... OMIM:604250
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia,... OMIM:617514
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Acute Panmyelosis With Myelofibrosis
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Lymphocytosis, Myelofibrosis, Ac... ORPHA:86843
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent si... OMIM:607271
Trimethylaminuria
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly OMIM:602079
Schimke Immunoosseous Dysplasia
Fever, Neutropenia, Lymphopenia, Small for gestational age, Thrombocytopenia, Abnormal immunoglob... OMIM:242900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent fever, Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent... OMIM:150550
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Pan... OMIM:601495
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... OMIM:607616
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia, Lethargy ORPHA:27
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Small for gestational age, Elevated circulating creatine kinase concentration, Throm... OMIM:618775
Meningococcal Meningitis
Hypothermia, Fever, Elevated circulating C-reactive protein concentration, Sepsis, Drowsiness, In... ORPHA:33475
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619752
Autosomal Dominant Severe Congenital Neutropenia
Fever, Lymphopenia, Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary in... ORPHA:486
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Acute Promyelocytic Leukemia
Bone marrow hypercellularity, Fever, Leukocytosis, Chronic infection, Leukopenia, Pancytopenia, W... ORPHA:520
Specific Granule Deficiency 2
Failure to thrive, Recurrent otitis media, Bone marrow maturation arrest, Sepsis, Recurrent bacte... OMIM:617475
Immunodeficiency 91 And Hyperinflammation
Recurrent fever, Persistent fever, Failure to thrive, Elevated circulating C-reactive protein con... OMIM:619644
Autosomal Agammaglobulinemia
Failure to thrive, Fever, Sepsis, Meningitis, Recurrent infections, Neutropenia, Agammaglobulinem... ORPHA:33110
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Thrombocytopenia, Elevated circulating creatine kinase concentration, Unexplai... OMIM:614727
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia OMIM:614743
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Coma, Hyperammonemia, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Neu... OMIM:251000
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Hypothermia, Lethargy ORPHA:95717
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Megaloblastic bone marrow, Lethargy ORPHA:79283
Shwachman-Diamond Syndrome
Sepsis, Aplastic anemia, Macrocytic anemia, Pancytopenia, Bone marrow hypocellularity, Recurrent ... ORPHA:811
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... ORPHA:35858
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Coma, Hyperammonemia, Confusion, Increased level of L-glutamic acid in blood, ... OMIM:237310
Wt Limb-Blood Syndrome
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia OMIM:194350
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... ORPHA:167
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Gaucher Disease, Type Iii
Decreased body weight, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Griscelli Syndrome, Type 2
Fever, Hemophagocytosis, Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hype... OMIM:607624
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Dengue Fever
Fever, Hypoproteinemia, Leukopenia, Thrombocytopenia, Lethargy ORPHA:99828
Omenn Syndrome
Failure to thrive, Recurrent fungal infections, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypo... OMIM:603554
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Recurrent sinusitis, Decreased circulating antibody level, Re... OMIM:616576
Central Diabetes Insipidus
Failure to thrive, Fever, Hyponatremia, Excessive daytime somnolence, Weight loss, Lethargy ORPHA:178029
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Abnormal granulocytopoietic cell morphology, Anisocytosis, Macr... OMIM:300835
Staphylococcal Necrotizing Pneumonia
Fever, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Severe ... ORPHA:36238
Pulmonary Blastoma
Fever, Weight loss, Recurrent pneumonia ORPHA:64741
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Sepsis, Bone marrow hypocellularity, Recurrent viral... ORPHA:443811
Ebola Hemorrhagic Fever
Increased circulating antibody level, Fever, Lymphopenia, Leukopenia, Sepsis, Thrombocytopenia, L... ORPHA:319218
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Thrombotic Thrombocytopenic Purpura
Fever, Coma, Decreased serum creatinine, Confusion, Microangiopathic hemolytic anemia, Reticulocy... ORPHA:54057
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Homocystinuria Without Methylmalonic Aciduria
Failure to thrive, Megaloblastic bone marrow, Lethargy ORPHA:622
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Idiopathic Achalasia
Weight loss, Decreased prealbumin level ORPHA:930
Holocarboxylase Synthetase Deficiency
Coma, Hyperammonemia, Weight loss, Thrombocytopenia, Lethargy ORPHA:79242
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Pancytopenia OMIM:617872
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Anemia, Ele... ORPHA:231111
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Coombs-positive hemolytic anemia, Severe infection, Eosinophilia, Autoimmune t... OMIM:304790
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent fever, Recurrent otitis media, Fever, Lymphopenia, Elevated circulating C-reactive prot... OMIM:615688
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Recurrent bacterial infections, Absent circulating B cells, Agammaglobulinemia... OMIM:619693
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Necrotizing Enterocolitis
Leukocytosis, Small for gestational age, Hyponatremia, Neutropenia, Lethargy, Thrombocytopenia, N... ORPHA:391673
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia OMIM:251900
Hyperinsulinism Due To Hnf1A Deficiency
Loss of consciousness, Small for gestational age, Increased C-peptide level, Large for gestationa... ORPHA:324575
Hyperinsulinism Due To Ucp2 Deficiency
Loss of consciousness, Increased C-peptide level, Large for gestational age, Hypoglycemic coma, D... ORPHA:276556
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:610333
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Failure to thrive, Hypokalemia, Hepatosplenomegaly, Hemolytic ... OMIM:611590
Thymoma
Fever, Abnormal lymphocyte physiology, Aplastic anemia, Decreased circulating antibody level, Abn... ORPHA:99867
3-Hydroxy-3-Methylglutaric Aciduria
Hypothermia, Fever, Coma, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytosis, Hypoglycemic ... ORPHA:20
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Megaloblastic bone marrow, Lethargy ORPHA:26
Felty Syndrome
Splenomegaly, Sepsis, Recurrent urinary tract infections, Abnormal lymphocyte morphology, Weight ... ORPHA:47612
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Lethargy, Increased serum iron, Splenomegaly OMIM:602390
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Fever, Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Weight... ORPHA:54251
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia OMIM:600546
Fanconi-Like Syndrome
Recurrent lower respiratory tract infections, Pancytopenia OMIM:227850
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... OMIM:618534
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Recurrent infections, Hyperuricemia, Neutropenia OMIM:617056
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Hypothermia, Lethargy, Abnormal circulating thyroglobulin level ORPHA:95716
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Failure to thrive, Neutropenia, Sideroblastic anemia, Hyperbilirubinemia, Sma... OMIM:557000
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Abnormality of bone marrow strom... ORPHA:86841
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia OMIM:131400
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Loss of consciousness, Increased C-peptide level, Large for gestational age, Hypoglycemic coma, D... ORPHA:276575
Marburg Hemorrhagic Fever
Elevated circulating creatinine concentration, Reticulocytosis, Increased circulating antibody le... ORPHA:99826
Agammaglobulinemia, X-Linked
Sepsis, B lymphocytopenia, Decreased circulating IgE, Decreased circulating IgA level, Pyoderma, ... OMIM:300755
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Thrombocytopenia, Recurrent opportunistic infections, Pancytopenia OMIM:613987
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Immunodeficiency 23
Failure to thrive, Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Severe va... OMIM:615816
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Anemia OMIM:614742
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Failure to thrive, Coma, Abnormal circulating c... OMIM:615838
Neuroleptic Malignant Syndrome
Hypothermia, Hypomagnesemia, Hypocalcemia, Fever, Coma, Leukocytosis, Sepsis, Elevated circulatin... ORPHA:94093
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Lethargy ORPHA:26792
Babesiosis
Fever, Coma, Splenomegaly, Leukopenia, Confusion, Hemolytic anemia, Recurrent pharyngitis, Recurr... ORPHA:108
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Lymphedema, Primary, With Myelodysplasia
Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio, Pancytopenia OMIM:614038
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Decreased circulating IgG level, Recurrent infections, Neutropenia OMIM:608809
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Leukopenia, Anemia, Thrombocytopenia OMIM:615715
Glutaric Acidemia Type 3
Failure to thrive, Abnormality of circulating enzyme level, Lethargy, Elevated circulating glutar... ORPHA:35706
Neutropenia, Severe Congenital, X-Linked
Bone marrow arrest at the promyelocytic stage, Recurrent bacterial infections, Neutropenia, Decre... OMIM:300299
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Bone marrow hypocellul... OMIM:613989
Glycine Encephalopathy
Hyperglycinemia, Lethargy OMIM:605899
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Coma, Lethargy, Hyperammonemia OMIM:238750
Wiskott-Aldrich Syndrome
Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... OMIM:301000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Large for gestational age, Hypoglycemic coma, Drowsiness, Lethargy, Lo... ORPHA:276580
Tularemia
Increased circulating antibody level, Fever, Leukocytosis, Anemia, Brain abscess, Confusion, Meni... ORPHA:3392
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating creatine kinase concentration, Hyperglycinemia, Hyperalaninemia, Hyperamylas... OMIM:619386
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Fever, Decreased body weight, Elevated circula... ORPHA:90051
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Isolated Agammaglobulinemia
Failure to thrive, Fever, Sepsis, Abnormal lymphocyte morphology, Abnormality of neutrophils, Men... ORPHA:229717
Deafness-Lymphedema-Leukemia Syndrome
Fever, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Bone m... ORPHA:3226
Aplastic Anemia
Bone marrow hypocellularity, Aplastic anemia OMIM:609135
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Lethargy, Abnormal erythrocyte morphology ORPHA:71277
Pyruvate Dehydrogenase E1-Alpha Deficiency
Hyperalaninemia, Lethargy, Small for gestational age OMIM:312170
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Coma, Hemophagocytosis, Splenome... OMIM:267700
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Hypomagnesemia, Decreased circulating IgG level, Lymphopenia, Hy... ORPHA:90362
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Preeclampsia
Small for gestational age, Increased body mass index, Helicobacter pylori infection, Elevated cir... ORPHA:275555
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia, Hyperglycinemia, Hypertaurinemia, Failure to thrive OMIM:245400
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Acute hyperammonemia, Coma, Hyperammonemia, Hyperglutaminemia, Delirium, Confu... ORPHA:927
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Recurrent fever, Splenomegaly OMIM:614979
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Increase... ORPHA:169160
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia, Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Elevated c... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Macrothrombocytopenia, Neutropenia, Thrombocytopenia, Decreased p... OMIM:603585
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Idiopathic Chronic Eosinophilic Pneumonia
Fever, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, Hypereos... ORPHA:2902
Mucopolysaccharidosis-Plus Syndrome
Recurrent bronchopulmonary infections, Splenomegaly, Leukopenia, Sepsis, Increased circulating Ig... OMIM:617303
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Failure to thrive, Splenomegaly, Impaired T cell function, Decrease... OMIM:201100
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia, Coma, Hyperammonemia, Elevated cre... ORPHA:159
Gaucher Disease Type 1
Increased circulating antibody level, Splenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocyto... ORPHA:77259
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Neonatal Lupus Erythematosus
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia ORPHA:398124
Igg4-Related Aortitis
Increased circulating antibody level, Fever, Elevated circulating C-reactive protein concentratio... ORPHA:449400
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... OMIM:618849
Neonatal Alloimmune Neutropenia
Fever, Neutropenia in presence of anti-neutropil antibodies, Severe infection, Sepsis, Meningitis... ORPHA:464370
Forsythe-Wakeling Syndrome
Decreased body weight, Thrombocytopenia OMIM:613606
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Focal Myositis
Weight loss, Fever, Elevated circulating creatine kinase concentration ORPHA:48918
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Hyperlipidemia, Lymphopenia, Small for gestational age, Abnormal lymphocyte ph... ORPHA:1830
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Lethargy OMIM:610006
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Rhabdoid Tumor
Fever, Anemia, Hypercalcemia, Weight loss, Thrombocytopenia ORPHA:69077
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Meningitis, Confusion, Herpes simplex encephalitis, Lethargy OMIM:617900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Recurrent otitis m... OMIM:600802
Wolcott-Rallison Syndrome
Fever, Decreased body weight, Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency ... ORPHA:1667
Cyclic Neutropenia
Recurrent fever, Lymphopenia, Recurrent tonsillitis, Opportunistic infection, Severe infection, S... ORPHA:2686
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Pelger-Huet Anomaly
Failure to thrive, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Abnormality of ... OMIM:169400
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Recurrent otitis media, Chronic oral candidiasis, Splenomegaly,... OMIM:608233
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Glycerol Kinase Deficiency
Coma, Small for gestational age, Hypertriglyceridemia, Lethargy, Loss of consciousness OMIM:307030
Selective Igm Deficiency
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,... ORPHA:331235
Proteasome-Associated Autoinflammatory Syndrome 3
Recurrent fever, Increased circulating antibody level, Failure to thrive, Lymphopenia, Splenomega... OMIM:617591
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Lig4 Syndrome
Failure to thrive, Thrombocytopenia, Pancytopenia OMIM:606593
Herpes Simplex Virus Encephalitis
Fever, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Coma, H... ORPHA:1930
Bangstad Syndrome
Small for gestational age, Pancytopenia OMIM:210740
Griscelli Syndrome
Fever, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Abnormality of neutrop... ORPHA:381
Shwachman-Diamond Syndrome 1
Failure to thrive, Small for gestational age, Persistence of hemoglobin F, Pancytopenia, Recurren... OMIM:260400
Galactosemia
Failure to thrive, Sepsis, Increased level of galactitol in plasma, Hypergalactosemia, Abnormal e... ORPHA:352
Carnitine Deficiency, Systemic Primary
Failure to thrive, Coma, Hyperammonemia, Confusion, Decreased plasma carnitine, Excessive daytime... OMIM:212140
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Splenomegaly, Hypersplenism, Pancytopenia, Failure to thrive in ... OMIM:613385
Immunodeficiency 83, Susceptibility To Viral Infections
Meningitis, Confusion, Herpes simplex encephalitis, Lethargy OMIM:613002
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Lymphopenia, Recurrent infections, Neutropenia OMIM:616395
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Coma, Hyperammonemia, Cachexia, Elevated circulating creatine kinase concentration, Decreased pla... ORPHA:42
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Failure to thrive, Elevated circulating palmitoleylcarnitine concentration,... ORPHA:79284
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:37042
Relapsing Fever
Fever, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukope... ORPHA:91547
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Hereditary Central Diabetes Insipidus
Fever, Weight loss, Lethargy ORPHA:30925
Systemic Lupus Erythematosus 17
Recurrent fever, Fever, Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Alpha-Mannosidosis, Adult Form
Recurrent gastroenteritis, Hepatosplenomegaly, Confusion, Drowsiness, Recurrent infections, Pancy... ORPHA:309288
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Tuberculosis
Fever, Weight loss ORPHA:3389
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Hypothermia, Failure to thrive, Hyperammonemia, Hypomethioninemia, Elevated... ORPHA:79282
Citrullinemia Type I
Failure to thrive, Coma, Hyperammonemia, Elevated plasma citrulline, Lethargy, Loss of consciousness ORPHA:247525
Laryngeal Neuroendocrine Tumor
Weight loss, Elevated carcinoembryonic antigen level ORPHA:100083
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Lethargy ORPHA:49827
Glut1 Deficiency Syndrome 1
Confusion, Paroxysmal lethargy, Lethargy OMIM:606777
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Fever ORPHA:139436
Slc35A1-Cdg
Abnormal megakaryocyte morphology, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal plate... ORPHA:238459
Menkes Disease
Hypothermia, Decreased circulating ceruloplasmin concentration OMIM:309400
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Increased circulating antibody level, Fever, Spleno... OMIM:615846
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... OMIM:617713
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Recurrent fever, Increased circulating IgA level, Neutrophilia, Leukocytosis, Elevated circulatin... OMIM:617099
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Increased circulating ferritin concentration, Hepatosplenomegaly, Th... ORPHA:210136
Developmental And Epileptic Encephalopathy 40
Lethargy, Small for gestational age OMIM:617065
Vici Syndrome
Failure to thrive, Recurrent fungal infections, Decreased circulating IgG level, Recurrent bacter... OMIM:242840
Spontaneous Periodic Hypothermia
Hypothermia, Reduced consciousness/confusion ORPHA:29822
Early Myoclonic Encephalopathy
Lethargy, Recurrent respiratory infections ORPHA:1935
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Lethargy, Hyperammonemia OMIM:618120
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Elevated circulating creatine kinase concentration, Pancytopenia OMIM:607426
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:613990
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Lethargy OMIM:274270
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Transaldolase Deficiency
Failure to thrive, Splenomegaly, Small for gestational age, Hepatosplenomegaly, Pancytopenia, Ane... OMIM:606003
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Failure to thrive, Coma, Hyperammonemia, Episodic ammonia intoxication, Low plasma citrulline, Hy... OMIM:237300
Amed Syndrome, Digenic
Failure to thrive, Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myelo... OMIM:619151
Pneumocystosis
Increased circulating antibody level, Fever, Chronic oral candidiasis, Abnormal neutrophil count,... ORPHA:723
Cryptogenic Organizing Pneumonia
Fever, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Weight ... ORPHA:1302
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:173590
Citrullinemia Type Ii
Fluctuations in consciousness, Acute hyperammonemia, Hyperlipidemia, Coma, Hypoproteinemia, Decre... ORPHA:247585
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Large for gestational age, Neutropenia, Bone marrow hypocellularity, Anemia, T... OMIM:614520
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Coma, Lethargy, Hyperammonemia OMIM:253270
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Fetal Gaucher Disease
Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Pancytopenia ORPHA:85212
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hemophagocytosis, Intraalveolar phospholipid accumu... ORPHA:470
Carnitine Palmitoyltransferase I Deficiency
Coma, Hyperammonemia, Elevated circulating creatine kinase concentration, Transient hyperlipidemi... OMIM:255120
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss ORPHA:411593
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Fever, Leukocytosis, Confusion, Hyponatremia, Thrombocytopenia ORPHA:83601
Dyskeratosis Congenita, Autosomal Dominant 6
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia OMIM:616553
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Failure to thrive, Hypomethioninemia, Delirium, Confusion, Hyperhomocystine... OMIM:277400
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Beta-Thalassemia
Abnormal hemoglobin, Abnormality of temperature regulation, Splenomegaly, Abnormality of iron hom... ORPHA:848
Aspergillosis
Unusual CNS infection, Fever, Invasive pulmonary aspergillosis, Eosinophilia, Meningitis, Infecti... ORPHA:1163
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Hyperammonemia, Hyperisoleucinemia, Decreased plasma carnitine, Elevated plasm... ORPHA:2394
Genetic Transient Congenital Hypothyroidism
Hypothermia, Lethargy, Increased circulating thyroglobulin level ORPHA:226316
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fever, Weight loss, Abnormality of bone marrow cell morphology, Splenomegaly ORPHA:86893
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Boutonneuse Fever
Fever, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytop... ORPHA:83313
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hyperprolinemia, Failure to thrive in infancy, Lethargy OMIM:619064
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leu... OMIM:214500
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259710
Fanconi Anemia, Complementation Group C
Neutropenia, Small for gestational age, Thrombocytopenia, Pancytopenia, Bone marrow hypocellulari... OMIM:227645
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Schistocytosis, Elevated circulating cr... OMIM:274150
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Mevalonic Aciduria
Failure to thrive, Elevated circulating C-reactive protein concentration, Leukocytosis, Fluctuati... OMIM:610377
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent bronchopulmonary infections, Splenomegaly, Leukopenia, Elevated... OMIM:604173
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubin... OMIM:269920
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, De... ORPHA:447
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Lethargy OMIM:201470
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Lethargy, Hyperammonemia OMIM:600649
Bone Marrow Failure Syndrome 3
Failure to thrive, Aplastic anemia, Recurrent infections, Pancytopenia, Bone marrow hypocellulari... OMIM:617052
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a... OMIM:613470
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Hypothermia, Lethargy, Increased circulating thyroglobulin level ORPHA:90673
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Splenomegaly, Mastocytosis ORPHA:98848
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Lethargy OMIM:618228
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Weight loss, Failure to thrive, Lethargy OMIM:143880
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... OMIM:235400
Fanconi Anemia, Complementation Group E
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul... OMIM:600901
Febrile Infection-Related Epilepsy Syndrome
Fever, Lethargy ORPHA:163703
Late-Onset Isolated Acth Deficiency
Failure to thrive, Eosinophilia, Sepsis, Normocytic anemia, Low-grade fever, Macrocytic anemia, H... ORPHA:199299
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Cardiomegaly, Abnormal renal physiology ORPHA:85447
Hyperphenylalaninemia, Bh4-Deficient, B
Recurrent fever, Hyperphenylalaninemia, Lethargy OMIM:233910
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Anemia, Neutropenia OMIM:614900
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Whim Syndrome
Bone marrow hypercellularity, Lymphopenia, Sepsis, Recurrent bacterial infections, Recurrent uppe... ORPHA:51636
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Hyperornithinemia, Coma, Hyperammonemia, Confusion, Lethargy OMIM:238970
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia, Failure to thrive, Abnormal circulating thyroglobulin level, Hypercholesterolemia, N... ORPHA:90674
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Weight loss, H... ORPHA:2070
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Recurrent upper respira... OMIM:615952
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Gaucher Disease Type 3
Increased circulating antibody level, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Recur... ORPHA:77261
Fanconi Anemia, Complementation Group A
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul... OMIM:227650
Inflammatory Pseudotumor Of The Liver
Fever, Weight loss, Increased hepatitis B virus antibody level ORPHA:90003
Transaldolase Deficiency
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Anemia, Thrombocytopenia, Incre... ORPHA:101028
Livedoid Vasculopathy
Leukocytosis, Abnormal circulating lipid concentration, Polycythemia, Hyperhomocystinemia, Pancyt... ORPHA:542643
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... ORPHA:251004
Systemic Mastocytosis With Associated Hematologic Neoplasm
Bone marrow hypercellularity, Fever, Abnormal mast cell morphology, Neutrophilia, Leukocytosis, S... ORPHA:98849
Prolidase Deficiency
Increased circulating antibody level, Failure to thrive, Splenomegaly, Recurrent infections, Recu... OMIM:170100
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tract infections, ... ORPHA:263501
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Hypocalcemia, Leukopenia, Elevated circulating creatine kinase concentration, ... ORPHA:2785
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, Recurre... ORPHA:508542
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepat... OMIM:259720
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... OMIM:277410
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatospleno... OMIM:612541
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:600903
Adult-Onset Still Disease
Fever, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Splenom... ORPHA:829
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Recurrent fever, Leukocytosis, Congenital thrombocy... OMIM:618886
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Avian Influenza
Fever, Lymphopenia, Elevated circulating C-reactive protein concentration, Leukopenia, Sepsis, El... ORPHA:454836
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Chronic Myeloid Leukemia
Fever, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, ... ORPHA:521
Diffuse Alveolar Hemorrhage
Fever, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thromboc... ORPHA:90060
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Dyskeratosis Congenita, Autosomal Recessive 3
Bone marrow hypocellularity, Pancytopenia OMIM:613988
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Drowsiness, Coma, Lethargy ORPHA:276608
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia OMIM:617341
Zika Virus Disease
Fever, Meningitis, Infectious encephalitis, Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Lethargy OMIM:605711
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia OMIM:613845
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent fever, Increased circulating interleukin 6 concentration, Fever, Elevated circulating C... OMIM:301074
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Congenital thrombocytopenia, Megakaryocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia OMIM:605432
Typhoid
Fever, Coma, Splenomegaly, Infectious encephalitis, Lethargy ORPHA:99745
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Lymphopenia, Recurrent bronchopulmonary infections, Aplasia of the thymus, Abn... OMIM:242700
Acute Monoblastic/Monocytic Leukemia
Bone marrow hypercellularity, Fever, Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monoc... ORPHA:514
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Pearson Syndrome
Hypomagnesemia, Neutropenia, Abnormality of bone marrow cell morphology, Hypophosphatemia, Hypoka... ORPHA:699
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia, Recurrent fever OMIM:616744
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Dopamine Beta-Hydroxylase Deficiency
Hypothermia, Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Encephalitis Lethargica
Increased circulating antibody level, Fever, Coma, Recurrent viral infections, Lethargy ORPHA:83600
Vexas Syndrome
Recurrent fever, Elevated circulating C-reactive protein concentration, Macrocytic anemia, Megaka... OMIM:301054
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Fever, Hypocalcemia, Severe infection, Sepsis, Abscess, Re... ORPHA:36234
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypothermia, Failure to thrive, Hypoalbuminemia OMIM:618329
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Stormorken Syndrome
Elevated circulating creatine kinase concentration, Anemia, Thrombocytopenia, Asplenia, Howell-Jo... OMIM:185070
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Immunodeficiency 10
Recurrent fever, Recurrent bacterial infections, Recurrent infections, Autoimmune hemolytic anemi... OMIM:612783
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent fever, Failure to thrive, Increased circulating IgA level, Lymphopenia, Elevated circul... OMIM:615934
Immunodeficiency 47