Gene Summary

Name:
mitochondrial antiviral signaling protein
Synonyms:
IPS-1,  D430028G21Rik

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
decreased bone mineral density Mavsem1(IMPC)Mbp HOM Early adult 2.02×10-06
decreased bone mineral content Mavsem1(IMPC)Mbp HOM Early adult 3.17×10-06

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Viewing: all phenotypes
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Viewing: all phenotypes

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

59 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

Human diseases caused by Mavs mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Severe Epstein Barr virus infec... OMIM:308240
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Herpes simplex encephali... OMIM:618982
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... OMIM:312863
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Recurrent infections, Increased alpha-globulin OMIM:235900
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent candida infections, Decreased circulating IgG level, Recurrent bacte... OMIM:242870
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent upper and lower respiratory tract infect... OMIM:608106
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Vira... OMIM:209920
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, Decreased proportion of CD4-positive helper T cells, Neonatal sepsis, Neutropenia,... ORPHA:169154
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Immunodeficiency 18
Defective T cell proliferation, Recurrent gastroenteritis, Decreased proportion of CD3-positive T... OMIM:615615
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Atopic dermatitis, Incr... OMIM:618944
Immunodeficiency 25
Recurrent herpes, T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE l... OMIM:610163
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Recurrent bacterial skin infections, Decreased proportion of CD4-positive helper T cel... ORPHA:276
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... OMIM:613500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent bronchitis, Decreased CD69 upreg... OMIM:300853
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Recurr... OMIM:618495
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro... OMIM:308230
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Splenomegaly, Recurrent... OMIM:269840
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Recurrent infections, Splenomegaly, Decreased circulating total IgM OMIM:606445
Osteoporosis
Osteoporosis OMIM:166710
Severe Combined Immunodeficiency, X-Linked
Skin rash, T lymphocytopenia, Recurrent fungal infections, Chronic oral candidiasis, Decreased ci... OMIM:300400
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Recurrent fungal infections, Helicob... ORPHA:2688
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Skin rash, Maculopapular exanthema, Neutropenia, Ab... ORPHA:540
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Candidiasis, Familial, 2
Chronic tinea infection, Increased circulating IgE level, Chronic oral candidiasis, Onychomycosis... OMIM:212050
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Persistent EBV vir... OMIM:617514
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Bronchiectasis, Recu... OMIM:607594
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... ORPHA:331235
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lym... ORPHA:37748
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:601457
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M proteinemia, Cryogl... ORPHA:209004
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... OMIM:300988
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Recurrent pneumonia, Absent tonsils, Incre... ORPHA:277
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Lymph node hypoplasia, Pyoderma, Pneumonia, Septic arthritis, Recurren... OMIM:300755
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Reduced isohemagglutinin level, Chronic (near) absent circula... OMIM:614699
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... OMIM:613495
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Lymphadenopathy, Eosinophilia, Iron defi... OMIM:603909
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Recurre... OMIM:307200
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Recurrent gastroenteritis, Autoimmune hemolytic ane... OMIM:615607
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hemophagocytosis, Increased circulating ferrit... OMIM:300635
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Arteritis, Leukocytosis, Decreased circulating antibody level, Stomatitis, He... OMIM:233600
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Complete or near-complete absence of specific antibody response to unconjuga... OMIM:613494
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Skin rash, Hemophagocytosis, Increased total biliru... OMIM:603553
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Lymphocytosis, Recurrent bacterial skin infections, Pneumonia, Abnormality of the lymp... ORPHA:911
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent bacteria... OMIM:613501
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Recurrent upper respiratory tract... OMIM:613101
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased proportion of class-switched memory B cells, Incre... OMIM:615767
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Myocard... ORPHA:2442
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent upper respira... OMIM:616100
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:193670
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Abnormally low T cell receptor excision circle level, Neutropenia, Generalized ly... OMIM:618986
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Abnormal natural killer cell count, Reduced antigen-specific T cell proliferation, Eos... ORPHA:331206
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Cerebellar atrophy, Cerebral atrophy, Polymicrogyria, Decreased circulating IgG level OMIM:618973
Lymphoproliferative Syndrome 2
Hemophagocytosis, EBV meningitis, Persistent EBV viremia, EBV encephalitis, Decreased circulating... OMIM:615122
Aspergillosis
Invasive pulmonary aspergillosis, Increased circulating IgE level, Bronchiectasis, Unusual CNS in... ORPHA:1163
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i... ORPHA:217390
Pfapa Syndrome
Hepatomegaly, Encephalitis, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis ORPHA:42642
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... OMIM:616740
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Persistent EBV viremia... OMIM:613011
Zika Virus Disease
Skin rash, Increased circulating IgM level, Myelitis, Maculopapular exanthema, Thrombocytopenia, ... ORPHA:448237
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Chronic oral candidiasis, Recurrent gastroenteriti... ORPHA:275
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Panniculitis, Increased proportion of C... OMIM:617099
Immunodeficiency 70
Furuncle, Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Decreased cir... OMIM:618969
Congenital Enterovirus Infection
Skin rash, Hyperammonemia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Fetal ascit... ORPHA:292
Immunodeficiency 23
Allergic rhinitis, Hemolytic anemia, Increased circulating IgM level, Bronchiectasis, Recurrent S... OMIM:615816
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe... ORPHA:572
Complement Component 8 Deficiency, Type Ii
Meningitis, Decreased serum complement C8, Recurrent Neisserial infections OMIM:613789
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Recurrent viral infections,... ORPHA:169079
Agammaglobulinemia 8, Autosomal Dominant
Recurrent infections, Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia OMIM:616941
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Thrombocytosis, Increased circulating IgA level, Lymphopenia, Paratracheal ly... OMIM:615934
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Decreased circulating antibody level, Hepatomegaly, Prolonged neona... OMIM:300972
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Maculopapular exanthema, Thrombocytopenia, Increased ... ORPHA:83313
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Legionnaires Disease
Endocarditis, Pericarditis, Lymphopenia, Hyponatremia, Jaundice, Hepatitis, Splenomegaly, Encepha... ORPHA:549
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Decreased baso... OMIM:618394
Cd8 Deficiency, Familial
Bronchiectasis, Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial ... OMIM:608957
Q Fever
Pericarditis, Cryoglobulinemia, Maculopapular exanthema, Pneumonia, Anemia, Myocarditis, Osteomye... ORPHA:781
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:608971
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, Skin rash, Pustule, T lymphocytopenia, Absent natural killer ... ORPHA:35078
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Increased circulating antibody level, Thrombocytopenia, Recurrent infections, Lymphade... OMIM:618048
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Hypocalcemia, Elevated circulating creatinine concentration, Recurrent ur... ORPHA:36234
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Increased circulating IgA level,... OMIM:300291
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Increased circulating IgA level, Uveitis, Punctate kera... OMIM:617388
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent pneumonia, ... OMIM:613502
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Bronchiectasis, Pneumonia, Reduced natural ki... OMIM:242860
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Complement Component 8 Deficiency, Type I
Meningitis, Decreased serum complement C8 OMIM:613790
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Complete or near-complete absence of specific antib... OMIM:613496
Brucellosis
Pericarditis, Pneumonia, Increased circulating IgG level, Elevated circulating C-reactive protein... ORPHA:1304
Avian Influenza
Myelitis, Lymphopenia, Pneumonia, Elevated circulating creatine kinase concentration, Thrombocyto... ORPHA:454836
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Enlarged kidney, Macrovesicular hepatic steatosis, Neutropenia, ... OMIM:617303
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Leukocytosis, Increased... ORPHA:3392
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ... ORPHA:100024
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia OMIM:152800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Thyroiditis, Eczema, Lymphadenopathy, T ly... OMIM:606367
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Skin rash, Pancytopenia, Thrombocytopenia, Reduced ... OMIM:616050
Immunodeficiency 36
Bronchiectasis, Decreased circulating antibody level, Chronic lymphatic leukemia, Lymphopenia, Sp... OMIM:616005
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Recurrent infections, Splenomegaly OMIM:605309
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Disseminated nontuberculous myc... OMIM:300636
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Recurrent funga... OMIM:102700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, Recurrent Aspergillus infections, Bronchiectasis, Autoimmune thrombocytopenia, ... ORPHA:391487
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Neutropenia, Decreased circula... ORPHA:2643
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Cerebral atrophy, Thrombocytopenia, Hepa... OMIM:615846
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Decreased specific antibody response to vaccination, Generalized lym... OMIM:614700
Angiostrongyliasis
Increased circulating IgM level, Unusual CNS infection, Increased circulating specific IgE antibo... ORPHA:74
New-Onset Refractory Status Epilepticus
Encephalitis, Abnormal serum interleukin level, Global brain atrophy ORPHA:363558
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Encephalitis OMIM:616532
Scrub Typhus
Skin rash, Meningitis, Encephalitis, Anterior uveitis, Splenomegaly, Myocarditis, Lymphadenopathy ORPHA:83317
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Recurrent urinary tract infections, Pneumonia, Abnormality of B cell physi... OMIM:613179
Immunodeficiency 69
Increased circulating ferritin concentration, Skin rash, Thrombocytosis, BCGosis, Leukocytosis, P... OMIM:618963
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Increased circulating IgE level, Recurrent fungal infections, Recurrent Staphylococcus... OMIM:147060
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis OMIM:166260
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, T lymphocytopenia, Partial absence of specific an... OMIM:618108
Complement Component 4B Deficiency
Decreased serum complement C4b, Meningitis, Chronic active hepatitis OMIM:614379
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Cirrhosis, Increased total bilirubin, Viral... ORPHA:2137
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Increased circulating antibody ... ORPHA:449400
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Pancytopenia, Thrombocytope... ORPHA:507
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Neutropenia, Decreased circula... OMIM:251190
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Neutropenia, Recurrent respiratory infections, C... ORPHA:33110
Typhoid
Hepatomegaly, Skin rash, Encephalitis, Splenomegaly ORPHA:99745
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Cerebral cortical atrophy, Hyperammonemia, Encephalitis ORPHA:1194
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinem... OMIM:612692
Chilblain Lupus
Skin rash, Increased circulating antibody level, Discoid lupus rash, Malar rash, Chronic myelomon... ORPHA:90280
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Lymphocytosis, Interstitial pneumonitis, Thyroiditis, Erythroderma, Lymphaden... ORPHA:139402
American Trypanosomiasis
Skin rash, Hepatomegaly, Encephalitis, Splenomegaly, Myocarditis, Lymphadenopathy ORPHA:3386
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
L-2-Hydroxyglutaric Aciduria
Encephalitis ORPHA:79314
Crigler-Najjar Syndrome
Abnormality of the liver, Jaundice, Encephalitis ORPHA:205
Whipple Disease
Pericarditis, Uveitis, Hyponatremia, Hepatomegaly, Splenomegaly, Encephalitis, Anemia, Myocarditi... ORPHA:3452
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Keratitis, Eczema, Recur... OMIM:618523
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Hepatic steatosis, Decreased circulating antibody level, Hepatomegaly, Ja... OMIM:301045
Immune Deficiency Disease
Recurrent viral infections, Cholangitis, Fulminant hepatitis, Recurrent bacterial infections, Dec... OMIM:242850
Myeloma, Multiple
Paraproteinemia OMIM:254500
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Increased circulating IgM level, Recurrent fungal infec... ORPHA:186
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly,... OMIM:607616
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Increased circulating antibody level, Lymphopenia, Panniculitis, Thrombocytopenia, Con... OMIM:617591
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Recurrent oral herp... OMIM:615577
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Increased circulating IgA level OMIM:314000
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Corpus callosum atrophy, Neutropenia, Col... OMIM:608809
Immunodeficiency 43
Hypoproteinemia, Bronchiectasis, Hypoalbuminemia, Decreased circulating IgG level, Recurrent resp... OMIM:241600
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Iron deficiency anemia, Decreased mean platelet volume, Hemo... OMIM:600903
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinu... OMIM:616576
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Recurrent infections, Eczema, Increased circulating IgE level OMIM:618985
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
X-Linked Agammaglobulinemia
Abnormality of the lymphatic system, Skin rash, Hypocalcemia, Chronic otitis media, Neutropenia, ... ORPHA:47
Subacute Sclerosing Panencephalitis
Encephalitis OMIM:260470
Immunodeficiency 66
Pustule, Defective T cell proliferation, Meningitis, Sepsis, Recurrent skin infections OMIM:618847
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Skin rash, Hemophagocytosis, Neutropenia, Thrombocy... OMIM:603552
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level, Recurrent respiratory infections ORPHA:2571
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent otitis medi... ORPHA:444463
Nipah Virus Disease
Recurrent pharyngitis, Encephalitis ORPHA:99825
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Septic a... OMIM:617780
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level, Hyponatremia, Paucity of a... ORPHA:79139
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Meningococcal Meningitis
Skin rash, Sepsis, Encephalitis, Elevated circulating C-reactive protein concentration ORPHA:33475
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Eczema, Bone marrow h... OMIM:618116
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Listeriosis
Peritonitis, Pericarditis, Pneumonia, Jaundice, Myocarditis, Hepatic granulomatosis, Osteomyeliti... ORPHA:533
Tick-Borne Encephalitis
Increased circulating IgM level, Myelitis, Leukocytosis, Unusual CNS infection, Abnormality of se... ORPHA:297
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Adult-Onset Still Disease
Skin rash, Pericarditis, Leukocytosis, Generalized lymphadenopathy, Abnormal circulating lipid co... ORPHA:829
Microsporidiosis
Peritonitis, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pne... ORPHA:2552
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Decreased circulating IgG level, Neutropenia, Hypoalbuminemia OMIM:600351
Cerebral Visual Impairment
Unusual CNS infection, Neurodegeneration, Meningitis, Encephalitis, Central nervous system degene... ORPHA:447788
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Hypertriglyceridemia, Splenomegaly OMIM:619175
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Recurrent fungal infections, Erythroderma, Pneumonia, ... OMIM:603554
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Colitis, Recurrent bronchiolitis, Splenomegaly, B lymphocytopenia... OMIM:619164
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Interlobular bile duct destruction, Increased cir... ORPHA:562639
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Ulcerative colitis, Recurrent infections, Decreased circ... OMIM:614878
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Recurrent gastroenteritis, Enlarged kidney, Decreased circulatin... ORPHA:505248
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Increased circulating IgG1 level, Pericarditis, Interstitial... ORPHA:449395
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia, Hypoproteinemia ORPHA:1116
Coccidioidomycosis
Peritonitis, Skin rash, Coccidioidal meningitis, Pericarditis, Pneumonia, Increased circulating I... ORPHA:228123
Lyme Disease
Meningitis, Uveitis, Encephalitis, Arthritis ORPHA:91546
Cinca Syndrome
Skin rash, Leukocytosis, Uveitis, Lymphadenopathy, Meningitis, Elevated circulating C-reactive pr... OMIM:607115
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level, Ascites ORPHA:284227
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Pure red cell aplasia, Anemia OMIM:618165
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Increased circulating antibody level, Lymphadenopathy, ... ORPHA:69126
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis ORPHA:411593
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Rift Valley Fever
Meningitis, Jaundice, Encephalitis, Cholestasis ORPHA:319251
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interleukin level, Decreased proportion of memory B cells, Panhypogammaglobulinemi... ORPHA:79124
Hyper-Igd Syndrome
Skin rash, Chronic oral candidiasis, Lymphadenitis, Leukocytosis, Increased circulating IgA level... OMIM:260920
Isolated Agammaglobulinemia
Abnormality of the lymphatic system, Skin rash, Abnormality of neutrophils, Abnormal lymphocyte m... ORPHA:229717
Reynolds Syndrome
Skin rash, Cirrhosis, Hepatomegaly, Jaundice, Keratoconjunctivitis sicca, Encephalitis, Ascites, ... ORPHA:779
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Recurrent bronchitis, Bronchiectasis, Decrea... OMIM:208900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative ... OMIM:618935
Prolidase Deficiency
Increased circulating antibody level, Thrombocytopenia, Crusting erythematous dermatitis, Hepatom... OMIM:170100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Erythroderma, Hypereosinophilia, Recurrent in... OMIM:256500
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Atrophy of the spinal cord, Eosinophilia ORPHA:99965
Cysticercosis
Increased circulating antibody level, Iridocyclitis, Encephalitis ORPHA:1560
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Chronic oral candidiasis, Bronchiectasis, ... OMIM:150550
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, ... OMIM:611762
Vici Syndrome
Cutaneous anergy, Recurrent fungal infections, Gray matter heterotopia, Abnormality of the thymus... OMIM:242840
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent otitis... OMIM:615518
Gm1 Gangliosidosis
Aspiration pneumonia, Encephalitis, Splenomegaly, Hepatosplenomegaly, Recurrent respiratory infec... ORPHA:354
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Hyperlipoproteinemia, Colitis OMIM:615947
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-positive T cells,... ORPHA:508533
Multiple Myeloma
Increased circulating IgA level, Elevated circulating creatinine concentration, Decreased circula... ORPHA:29073
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Recurrent pneumonia OMIM:602079
Mevalonic Aciduria
Skin rash, Normocytic hypoplastic anemia, Fluctuating hepatomegaly, Leukocytosis, Cerebral atroph... OMIM:610377
Common Variable Immunodeficiency
Recurrent bronchitis, Hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Decreased ci... ORPHA:1572
Nocardiosis
Peritonitis, Cutaneous abscess, Endocarditis, Pericarditis, Scleritis, Lymphadenitis, Thyroiditis... ORPHA:31204
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level, Intraalveolar phospholipid accumulation OMIM:618042
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Neutropenia, Conjunctivitis, Splenomegaly, Recurrent... OMIM:604173
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... OMIM:233710
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Recurrent ear infections, Decreased propor... ORPHA:221139
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Felty Syndrome
Pericarditis, Recurrent urinary tract infections, Neutropenia, Anemia, Sinusitis, Lymphadenopathy... ORPHA:47612
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Abnormal circulating lipid conc... ORPHA:381
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myeloid leukemia, Increased circulating antibody le... ORPHA:48104
Neurocutaneous Melanocytosis
Encephalitis, Abnormality of neuronal migration ORPHA:2481
Sézary Syndrome
Erythroderma, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Abnormal immunoglobulin... ORPHA:3162
Acute Lung Injury
Abnormality of serum cytokine level, Abnormality of tumor necrosis factor secretion, Increased ci... ORPHA:178320
Insulin-Resistance Syndrome Type B
Skin rash, Hypotriglyceridemia, Enlarged ovaries, Decreased serum complement factor B, Biliary ci... ORPHA:2298
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... OMIM:306400
C3 Glomerulopathy
Elevated circulating creatinine concentration, Decreased serum complement C4, Membranoproliferati... ORPHA:329918
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... OMIM:233690
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating IgG level, Cardiomegaly, Elevated circulating C-reactive protein concentrat... OMIM:256040
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cirrhosis, Decreased specific anti-polysaccharide antibody l... OMIM:614576
Whim Syndrome
Severe periodontitis, Recurrent pneumonia, Recurrent bacterial infections, Bronchiectasis, Recurr... ORPHA:51636
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Recurrent upper respiratory tract infections, Lymph node h... OMIM:602450
Igg4-Related Submandibular Gland Disease
Prostatitis, Increased circulating IgE level, Increased circulating antibody level, Increased cir... ORPHA:449432
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... OMIM:275350
Pneumocystosis
Chronic oral candidiasis, Interstitial pneumonitis, Increased circulating antibody level, Acute i... ORPHA:723
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Igg4-Related Pachymeningitis
Lymphadenitis, Increased circulating IgG4 level, Complement deficiency, Elevated circulating C-re... ORPHA:449427
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Maculopapular exanthema, Hepatomegaly, Splen... ORPHA:98848
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Sinusitis, Recurrent infections, Splenomegaly, Recurrent respiratory i... OMIM:226990
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, Septic arthritis, Recurrent... OMIM:612260
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Thyroiditis, Jaundice, Hypoalbuminemia, Cirrhosis, Uveitis, Abnormal... ORPHA:171
Progressive Multifocal Leukoencephalopathy
Meningitis, Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T c... ORPHA:217260
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Vici Syndrome
Gray matter heterotopia, Decreased circulating IgG2 level, Cerebral cortical atrophy, Recurrent i... ORPHA:1493
Okur-Chung Neurodevelopmental Syndrome
Pachygyria, Decreased circulating antibody level, Decreased circulating IgA level, Simplified gyr... OMIM:617062
Hartnup Disease
Skin rash, Encephalitis ORPHA:2116
Cystic Echinococcosis
Invasive parasitic infection, Peritoneal abscess, Hepatic cysts, Increased circulating antibody l... ORPHA:400
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Zygomycosis
Peritonitis, Pericarditis, Neutropenia, Sinusitis, Myocarditis, Endocarditis, Splenic abscess, Fa... ORPHA:73263
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Cerebral cortical atrophy, Encephalitis, Anemia, Abnormal hem... ORPHA:847
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Hepatomegaly, Anemia, Splenomegaly, De... OMIM:615234
Cinca Syndrome
Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Abnormal granulocyte morpho... ORPHA:1451
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... OMIM:602668
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis OMIM:178610
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... OMIM:237800
Waldenström Macroglobulinemia
Cryoglobulinemia, Abnormality of neutrophils, Normocytic anemia, Hepatomegaly, Recurrent infectio... ORPHA:33226
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Elevated circulating C-reactive protein concentration, Leukopenia, Anemi... OMIM:615688
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Bloom Syndrome
Skin rash, Severe toxoplasmosis, Recurrent urinary tract infections, Pneumonia, Otitis media, Rec... ORPHA:125
Pulmonary Fibrosis, Idiopathic
Increased circulating antibody level, Cirrhosis OMIM:178500
Complement Factor B Deficiency
Peritonitis, Decreased serum complement factor B, Pneumonia, Meningitis, Recurrent meningococcal ... OMIM:615561
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatom... OMIM:613313
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Decreased circulating antibody level, Lymp... ORPHA:90362
Good Syndrome
Bronchiectasis, Decreased circulating antibody level, Recurrent urinary tract infections, Aplasia... ORPHA:169105
Poliomyelitis
Absent tonsils, Meningitis, Myelitis, Encephalitis ORPHA:2912
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Sepsis, Recurrent... OMIM:612840
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Neoplasm of the liver, Biliary tract abnormality, Increased... ORPHA:90003
Behçet Disease
Endocarditis, Pericarditis, Increased inflammatory response, Retrobulbar optic neuritis, Orchitis... ORPHA:117
Yellow Fever
Meningitis, Jaundice, Encephalitis ORPHA:99829
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Sandhoff Disease
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:796
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Chronic otitis media, Recurrent respiratory infections, Thrombocytopenia, Bone marr... ORPHA:3226
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Decreased circulating antibody level, Lymphopenia, Chylous ascites... ORPHA:90363
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... OMIM:613673
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6, Sepsis, Abnormal serum interleukin level, Abnormality of tum... ORPHA:70578
Bloom Syndrome
Bronchiectasis, Recurrent upper respiratory tract infections, Malar rash, Decreased circulating I... OMIM:210900
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver dis... OMIM:616828
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Gaucher Disease Type 1
Cirrhosis, Increased circulating antibody level, Biliary tract obstruction, Pancytopenia, Thrombo... ORPHA:77259
Iga Pemphigus
Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, Monoclonal... ORPHA:555905
Adult-Onset Nemaline Myopathy
Paraproteinemia, Mildly elevated creatine kinase ORPHA:171442
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Conjugated hyperbilirubinemia, Hepatomegaly, Jaund... OMIM:214900
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Recurrent fungal infections, Chronic otitis media, Pneumonia, Recurrent viral i... ORPHA:169090
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Generalized osteoporosis OMIM:601220
Osteopetrosis, Autosomal Recessive 7
Recurrent pneumonia, Hepatomegaly, Decreased circulating IgA level, Anemia, Splenomegaly, Decreas... OMIM:612301
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Recurrent systemic pyogenic infections, Recurrent bact... OMIM:214500
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Pyelonephritis, Decreased serum complement factor B,... OMIM:610984
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Increased circulating IgE level, Chronic otitis media, Recurrent respiratory infection... ORPHA:2314
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Skin rash, Vacuolated lymphocytes, Recurrent bacter... ORPHA:167
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Meningitis, Herpes simplex encephalitis OMIM:617900
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Recurrent candida infections, Splenomegaly OMIM:201100
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, Splenomegaly, Increased se... OMIM:602390
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:614480
Combined Saposin Deficiency
Hepatomegaly, Neuronal loss in central nervous system, Splenomegaly OMIM:611721
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Chronic oral candidiasis, Reduced natural killer cell activity, P... OMIM:608233
Incontinentia Pigmenti
Skin rash, Uveitis, Cerebral cortical atrophy, Keratitis, Encephalitis, Eosinophilia ORPHA:464
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Netherton Syndrome
Skin rash, Increased circulating IgE level, Erythroderma, Decreased circulating antibody level, R... ORPHA:634
Galactosemia Iii
Hepatomegaly, Jaundice, Hypergalactosemia, Splenomegaly OMIM:230350
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Recurrent infections, Leukopenia, Spl... ORPHA:108
Amoebiasis Due To Free-Living Amoebae
Pustule, Increased red blood cell count, Unusual skin infection, Granuloma, Pneumonia, Encephalit... ORPHA:68
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence... ORPHA:231154
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Cerebellar atrophy, Splenomegaly OMIM:618541
Caffey Disease
Increased circulating antibody level ORPHA:1310
Fusariosis
Peritonitis, Bronchiectasis, Maculopapular exanthema, Pneumonia, Neutropenia, Onychomycosis, Sinu... ORPHA:228119
Follicular Lymphoma
Abnormality of the peritoneum, Meningitis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenop... ORPHA:545
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Erythroderma, Blepharitis, Increased circulating IgE level OMIM:614328
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Recurrent respiratory infections, Recurrent in... OMIM:612132
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Immunodeficiency 83, Susceptibility To Viral Infections
Meningitis, Herpes simplex encephalitis OMIM:613002
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Increased circulating antibody level, Hypoalbuminemia, Rec... ORPHA:86816
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Cerebral atrophy, Conjugated hyperbilirubinemia, Hepatomegaly, Ascites, C... OMIM:269920
Igg4-Related Ophthalmic Disease
Prostatitis, Increased circulating IgE level, Thyroiditis, Orchitis, Increased circulating IgG4 l... ORPHA:449563
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Cirrhosis, Conjugated hyperbilirubinem... OMIM:616860
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Subcorneal Pustular Dermatosis
Pustule, Rheumatoid arthritis, Increased circulating antibody level ORPHA:48377
Riddle Syndrome
Chronic sinusitis, Recurrent sinusitis, Generalized lymphadenopathy, Pneumonia, Recurrent viral i... ORPHA:420741
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Panniculitis, Pancytopenia, Hyper... OMIM:618398
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Nijmegen Breakage Syndrome
T lymphocytopenia, Recurrent bronchitis, Bronchiectasis, Autoimmune hemolytic anemia, Neurodegene... OMIM:251260
Sepsis In Premature Infants
Disseminated viral infection, Leukocytosis, Neonatal sepsis, Neutropenia, Thrombocytopenia, Menin... ORPHA:90051
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Recurrent pneumonia OMIM:602271
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Scedosporiosis
Arthralgia/arthritis, Pericarditis, Endocarditis, Fungal meningitis, Unusual skin infection, Unus... ORPHA:449280
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Chronic Granulomatous Disease
Abnormality of neutrophils, Recurrent respiratory infections, Otitis media, Hepatomegaly, Meningi... ORPHA:379
Chikungunya
Skin rash, Maculopapular exanthema, Synovitis, Lymphadenopathy, Cervical lymphadenopathy, Crustin... ORPHA:324625
Immunodeficiency 54
Recurrent viral infections, Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Recurr... OMIM:609981
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Mannosidosis, Alpha B, Lysosomal
Corpus callosum atrophy, Vacuolated lymphocytes, Decreased circulating antibody level, Hepatomega... OMIM:248500
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Pericarditis, Hepatomegaly, Juvenile rheumatoid arthritis, Elevated circulating C-reac... ORPHA:85414
Hypocomplementemic Urticarial Vasculitis
Skin rash, Recurrent bacterial infections, Uveitis, Hepatomegaly, Conjunctivitis, Meningitis, Epi... ORPHA:36412
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Leukopenia... ORPHA:470
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Primary Sjögren Syndrome
Cryoglobulinemia, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Decreased ser... ORPHA:289390
Classic Mycosis Fungoides
Skin rash, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Eczema, Lymphadenopathy ORPHA:2584
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Increased circulating IgE level, C... OMIM:313900
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatitis, Hyperammonemia ORPHA:79312
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormality of the pancreas, Elevated circulating C-reactive protein concentration... ORPHA:54251
Aicardi-Goutieres Syndrome 4
Cerebral atrophy, Pancytopenia, Thrombocytopenia, Cerebellar atrophy, Hepatomegaly, Splenomegaly,... OMIM:610333
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Cerebral atrophy, Sideroblas... OMIM:616084
Gaucher Disease Type 2
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:77260
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Hepatomegaly, Increased circulating IgA level, Recurrent aphthous stomatitis, Lympha... ORPHA:343
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Cystic Fibrosis
Exocrine pancreatic insufficiency, Decreased circulating antibody level, Biliary cirrhosis, Hepat... ORPHA:586
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pr... OMIM:618892
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the lymph nodes, Hyperuricemi... ORPHA:543
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Spleno... OMIM:612526
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Hypercholesterolemia, Decreased HDL cholesterol concentration,... OMIM:278000
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Hypertriglyceridemia, Decreased proportion of CD4-positive helper T ... ORPHA:66628
Familial Mediterranean Fever
Peritonitis, Pericarditis, Leukocytosis, Orchitis, Elevated circulating amyloid A, Hepatomegaly, ... OMIM:249100
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Severe infection, Meningitis, Ja... ORPHA:464370
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hashimoto thyroiditis, Pancytopenia, Hepatomegaly, Hepatitis, Decreased circulating IgA level, Hy... OMIM:613385
Immunoglobulin A Vasculitis
Skin rash, Pustule, Orchitis, Episcleritis, Encephalitis, Arthritis ORPHA:761
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Recurrent gastroenteritis, Microcytic anemia, Leukocytosis, Abnormal isohem... ORPHA:99843
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cerebral atrophy, Splenomegaly OMIM:608540
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Omenn Syndrome
Leukocytosis, Thyroiditis, Erythroderma, Abnormal lymphocyte morphology, Pneumonia, Lymphadenopat... ORPHA:39041
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Hypertriglyceridemia, Decreased proportion of CD4-positive helper T ... ORPHA:179494
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegal... ORPHA:848
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Decreased circulating IgA level, Elevated alpha-fetoprotein OMIM:208910
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Epidermodysplasia Verruciformis, Susceptibility To, 5
Cryptococcal meningitis, T lymphocytopenia, Lymphopenia, Persistent human papillomavirus infection OMIM:618309
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Portal hypertension, Hyperbilirubi... OMIM:616278
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Alexander Disease
Encephalitis ORPHA:58
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Cerebral atrophy, Hepatomegaly, Splenomegaly, Recurrent respiratory infections, Recurr... OMIM:613489
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Hyperlipidemia... ORPHA:79477
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Recurrent infections, Decreased circulatin... OMIM:613327
Roifman Syndrome
Recurrent pneumonia, Recurrent otitis media, Lymphadenopathy, Hepatomegaly, Splenomegaly, Eczema,... OMIM:616651
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent upper respiratory tract infections, Hyponatremia, Encephalitis, Recurrent lower respira... ORPHA:293987
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Gaucher Disease, Type Ii
Cerebral atrophy, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent aspiration pneu... OMIM:230900
Tubulointerstitial Nephritis And Uveitis Syndrome
Skin rash, Scleritis, Panuveitis, Intermediate uveitis, Reduced hematocrit, Elevated circulating ... ORPHA:91500
Gaucher Disease Type 3
Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splen... ORPHA:77261
Lcat Deficiency
Hemolytic anemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy ORPHA:650
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Cerebellar atrophy, Hepatomegaly, Splenomegaly OMIM:616719
Mixed Connective Tissue Disease
Skin rash, Hemolytic anemia, Pericarditis, Hepatomegaly, Meningitis, Keratoconjunctivitis sicca, ... ORPHA:809
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Hypocalcemia, Hemolytic anemia, Severe viral infection, Leukocytosis, Hyponatremia... ORPHA:544482
Gamma-Heavy Chain Disease
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Rheumatoid arthritis, Abnorm... ORPHA:100026
Alveolar Echinococcosis
Abnormality of mesentery morphology, Cutaneous abscess, Hepatic cysts, Pancreatic cysts, Biliary ... ORPHA:284
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802