Gene Summary

Name:
CYLD lysine 63 deubiquitinase
Synonyms:
2010013M14Rik,  2900009M21Rik,  C130039D01Rik,  CYLD1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Cyldem2(IMPC)Marc HOM Early adult 5.97×10-09
decreased locomotor activity Cyldem2(IMPC)Marc HOM Early adult 1.13×10-11
decreased exploration in new environment Cyldem2(IMPC)Marc HOM Early adult 8.53×10-06
increased eosinophil cell number Cyldem2(IMPC)Marc HOM Early adult 1.35×10-12
increased basophil cell number Cyldem2(IMPC)Marc HOM Early adult 1.96×10-35

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Phenotype associated images not available

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Trichoepithelioma, Multiple Familial, 1
Basal cell carcinoma OMIM:601606
Cylindromatosis, Familial
Neoplasm of the skin OMIM:132700
Brooke-Spiegler Syndrome
Neoplasm OMIM:605041
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Frontotemporal dementia, Dementia, Memory impairment OMIM:619132
Familial Multiple Trichoepithelioma
Basal cell carcinoma ORPHA:867
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy, Abnor... OMIM:618987
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp... OMIM:618982
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Splenomegaly, Decreased circula... OMIM:607594
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Transient n... OMIM:619707
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:601859
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgA level, Absent circ... OMIM:613500
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Cutaneous abscess, Decreased pr... OMIM:618944
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Reduced isohemagglutini... OMIM:613493
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:612692
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:603909
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level, Autoimmune thrombocytopenia, Au... OMIM:619220
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:613502
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Decreased proportion of memory B cells, Hepatosplenomegaly, Reduce... OMIM:615559
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... OMIM:618969
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Leukocytosis, Monocytosis, Redu... OMIM:619281
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Increased circulating antibody level, ... ORPHA:100024
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased circulating total IgM, Decreased proportion of ... OMIM:618394
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Ly... OMIM:618495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Increased T cell count, Constipation, Gastroesopha... ORPHA:263665
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Abnormality of the thymus, Decr... OMIM:611926
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Complete or near-complete absen... OMIM:610163
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Lym... ORPHA:331206
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Increased circulating antibody level... OMIM:615285
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 48
Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly OMIM:269840
Immunodeficiency 88
Eosinophilia OMIM:619630
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulatin... OMIM:617514
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Diffuse reticular or finely nodular infiltrations, Wheezing... ORPHA:2302
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Recurrent viral infections OMIM:308220
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Leukemia, Impaired lymphocy... OMIM:153600
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Increased circulating IgG level, Thrombocytosis,... OMIM:209950
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Autoimmune thrombocytopenia, Au... OMIM:616100
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Neutropenia... OMIM:619705
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, B lymphocytope... ORPHA:169079
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Obesity, Abnormal intestine morphology, Dysphagia, ... ORPHA:70482
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lack of T cell function, Absence of lymph node germinal center, Absent tonsils... ORPHA:277
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulc... OMIM:619398
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Lissencephaly, Abnormal mucociliar... OMIM:619466
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Failure to thrive, Protein-losing enteropathy, Villous atro... OMIM:615863
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Lymphadenopathy, Impaired Ig cl... OMIM:605258
Cholesterol Pneumonia
Cyanosis, Pneumonia, Tachypnea, Cough, Death in infancy OMIM:215030
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Agammaglobulinemia OMIM:615214
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent streptococcus pneu... ORPHA:70592
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased CD4:CD8 ratio, Autoimmune thrombocytopenia, Decreased prop... OMIM:300853
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Absent natural killer cells, Histiocytosis, Increa... ORPHA:2442
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... OMIM:308240
Ménétrier Disease
Nausea, Hypoproteinemia, Weight loss, Gastrointestinal hemorrhage, Giant hypertrophic gastritis, ... ORPHA:2494
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Inc... OMIM:617099
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Increased circulating IgG level, Increased circulating IgA level, Autoimmune h... OMIM:617388
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy OMIM:212050
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Decreased circulating antibody level, Anemia,... OMIM:613101
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia, B-cell lymphoma, Lymphadenopat... ORPHA:52416
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Decreased circulating total IgM, Reduced red cell adenosine deaminase level, Autoim... OMIM:102700
Immunodeficiency 89 And Autoimmunity
Increased circulating IgG level, Decreased eosinophil count, Increased circulating IgA level, Inc... OMIM:619632
Pulmonary Blastoma
Pulmonary infiltrates, Recurrent pneumonia, Cough, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hepatospleno... ORPHA:35078
Acute Interstitial Pneumonia
Cyanosis, Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Pulmonary infiltrates, ... ORPHA:79126
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Increased circulating IgE level ORPHA:482
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Agammaglobulinemia OMIM:613501
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Splenomegaly, Decreased circulating IgA level, Impaired T cell f... OMIM:240500
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Increased circulat... ORPHA:276
Pilomatrixoma
Pilomatrixoma OMIM:132600
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased... OMIM:615767
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Cutaneous abscess, Decreased ci... OMIM:619752
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific antibody response to protein-conjugate... ORPHA:70593
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Hepatomegaly, Splenomegaly, Lymphopenia OMIM:605309
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Chronic rhinitis, Cough, Recurrent bronchitis, Bronchiectasis, Ciliary dyski... OMIM:616726
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough, Dyspnea ORPHA:60026
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Sting-Associated Vasculopathy, Infantile-Onset
Paratracheal lymphadenopathy, Leukopenia, Increased circulating IgG level, Thrombocytosis, Increa... OMIM:615934
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Gastric ulcer, Iron deficiency anemia, Abnormal circulating eicosanoid concentration, Decreased c... OMIM:618372
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Parenchymal co... ORPHA:2902
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Eosinophilic Gastroenteritis
Eosinophilia, Hematochezia, Abnormality of the gastrointestinal tract, Leukocytosis, Weight loss,... ORPHA:2070
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Idiopathic Achalasia
Gastroesophageal reflux, Malnutrition, Dysphagia, Recurrent aspiration pneumonia, Weight loss, De... ORPHA:930
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Pulmonary e... OMIM:267450
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4-positiv... ORPHA:3261
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Absent bronchoalveolar dimeric surfactant-protein B, Ground-glass opacification, Intraa... OMIM:265120
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Feeding difficulties in infancy, Increased circulating ferritin concentration, Sple... OMIM:616050
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea... OMIM:263000
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Decreased circulating total IgM, Chronic neutropen... OMIM:614700
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss, Oral-pharyngeal dysphagia, Anorexia, Elevated ca... ORPHA:100083
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atel... ORPHA:70587
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Abnormal circulating protein concentration, Protein-losing en... ORPHA:103910
Congenital Lethal Erythroderma
Failure to thrive, Congenital exfoliative erythroderma, Malabsorption, Hypoalbuminemia ORPHA:1954
Immunodeficiency 35
Recurrent respiratory infections, Recurrent fungal infections, Recurrent viral infections, Recurr... OMIM:611521
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Cough, Rhinorr... OMIM:615067
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Restrictive v... OMIM:610978
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Cervical lymphadeno... ORPHA:83313
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Decreased circulating IgG level, Hepatosplenomegaly, Decreased proportion of CD3-po... ORPHA:169160
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Recurrent skin infections, Erythema n... OMIM:300635
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Thrombocytopenia, Lymphadenopathy OMIM:618048
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Hyper-Igd Syndrome
Hepatosplenomegaly, Lymphadenitis, Leukocytosis, Increased circulating IgA level, Neutrophilia, S... OMIM:260920
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Cholangitis, Thrombocytosi... OMIM:619652
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Immunodeficiency 31B
Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Decreased circulating antibody ... OMIM:615122
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Ground-glass opacification, Pneumonia, Hypoxemia, Airway obstruction, Reduce... ORPHA:1303
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Weight loss, Recurrent aphthous stomatitis, Inflammation of the large intestine,... OMIM:266600
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Hepatosplenomegaly, Lymphadenit... OMIM:618986
Immunodeficiency 36
Decreased circulating antibody level, Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Refractory Celiac Disease
Microcytic anemia, Lymphoma, Iron deficiency anemia, Protein-losing enteropathy, Villous atrophy,... ORPHA:398063
Ficolin 3 Deficiency
Necrotizing enterocolitis, Verrucae OMIM:613860
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Failure to thrive, Malnutrition, Hy... OMIM:246700
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Colitis, Splenomegaly, Chronic diarrhea, B-cell lymphoma,... OMIM:619164
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300755
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Decreased circulating IgG level, Decreased circulating total IgM, De... ORPHA:90362
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Gastritis, Vomiting, Pancolitis, Chronic diarrhea, Abdominal pain, Abnormal inte... OMIM:619079
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Cyanosis, Recurrent pneumonia, Interstitial pneum... OMIM:610913
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... ORPHA:3348
Whim Syndrome 1
Neutropenia, Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, B lymphocytopenia, Perianal abscess, Par... OMIM:618108
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Leukopenia, Autoimmune hemolytic anemia, Autoimmun... OMIM:613011
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Ascites, Hepatomegaly, Decreased circulating antibody level, Jaundice, Decreas... OMIM:301045
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Reduced subcutaneous adipose tissue, Atelec... OMIM:268500
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level, Anemia, Thrombocyt... OMIM:618116
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:615846
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Panhypogammaglobulinemia, Aplasia of the thymus OMIM:602450
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Esophageal neoplasm, Weight loss, Gastrointestinal hemorrhage, Gastroesophageal reflux... ORPHA:2198
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Restrictive ventilatory defect, Abnormal pleura morphology, Abnormal patte... ORPHA:724
Trichothiodystrophy 3, Photosensitive
Neutropenia, Increased circulating IgA level, Lymphopenia, Abdominal adhesions OMIM:616395
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Splenomegaly, Decreased circula... ORPHA:29073
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Reduced antigen-specific T cell proliferation, Decreased proport... ORPHA:443811
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Iga Pemphigus
Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating IgA level, Cutaneous... ORPHA:555905
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Aplasia/Hyp... ORPHA:33355
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Ground-glass opacification, Hypoxe... ORPHA:1302
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... OMIM:606367
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Abnormality of B cell physiology, Impaired lympho... OMIM:600802
Transcobalamin Ii Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:275350
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Absent microvilli on the surfac... OMIM:600903
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Pseudomyxoma Peritonei
Constipation, Inflammation of the large intestine, Nausea and vomiting, Abdominal pain, Lymphaden... ORPHA:26790
Angiostrongyliasis
Hypereosinophilia, Increased circulating IgG level, Increased circulating IgM level, Increased ci... ORPHA:74
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Sterile arthritis, Thrombocytosis, Colitis, ... OMIM:604416
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Anorexia, Neutropenia, Abnormal intestine morphology, Hypoalbuminemia, Secretory... OMIM:600351
Juvenile Polyposis Syndrome
Hematochezia, Hypokalemia, Colon cancer, Intussusception, Rectal prolapse, Anemia, Abdominal pain... OMIM:174900
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Glyoxalase deficiency, Reduced glutathione synthetase level, Hemolytic anemia OMIM:231900
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Primary hypothyroidism, Weight loss, Central hypothyroidism, Consti... ORPHA:95427
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Reduced natural killer cell activity, Hemophagocytosis, Anemia OMIM:608898
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Lymphangiectasis, Failure to thrive, Protein-losing enteropathy, Villous atrophy... OMIM:602579
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Pyoderma, Colitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:613148
Immunodeficiency 47
Exocrine pancreatic insufficiency, Decreased circulating total IgM, Chronic decreased circulating... OMIM:300972
Halothane Hepatitis
Eosinophilia OMIM:234350
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Increased circulating IgA level, Peritonitis, Lymphadenopathy ORPHA:343
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, ... OMIM:608184
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Weight loss, Gastrostomy tube feeding in infancy, Feeding di... ORPHA:141152
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Abdominal pain, Diarrhea, Weight loss OMIM:191390
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... OMIM:619611
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Macrocy... OMIM:617780
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phosp... OMIM:610910
Erythroderma, Lethal Congenital
Failure to thrive, Congenital exfoliative erythroderma, Hypoalbuminemia OMIM:227090
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:612301
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Failure to thrive in infancy, Autoimmune hemolytic anemia, Iron deficiency anemia... ORPHA:37042
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells, Agammaglobulinemia OMIM:619693
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Anxiety, Eosinophilia, Unsteady gait OMIM:618092
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Inflammatory Bowel Disease 25, Autosomal Recessive
Rectovaginal fistula, Pancolitis, Enterocutaneous fistula, Enterocolitis, Perianal abscess, Folli... OMIM:612567
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Constipation, Aganglionic megacolon, Abdominal disten... OMIM:142623
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Abnormality of B cell phy... OMIM:613179
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Nausea, Gastrointestinal hemorrhage, Adrenocortical carcino... ORPHA:913
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Hirschsprung Disease
Weight loss, Failure to thrive in infancy, Constipation, Aganglionic megacolon, Nausea and vomiti... ORPHA:388
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Pfapa Syndrome
Weight loss, Infectious encephalitis, Splenomegaly, Nausea and vomiting, Abdominal pain, Malabsor... ORPHA:42642
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cutaneous abscess, Cervical lymphadenop... ORPHA:3392
5-Oxoprolinase Deficiency
Abdominal pain, Enterocolitis, Diarrhea, Vomiting OMIM:260005
Adult Idiopathic Neutropenia
Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Wiskott-Aldrich Syndrome
Eosinophilia, Decreased circulating total IgM, Increased circulating IgA level, Autoimmune hemoly... OMIM:301000
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis, Thrombocytopenia, Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash OMIM:616744
Porokeratosis
Hyperkeratosis, Pruritus, Squamous cell carcinoma of the skin ORPHA:79358
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough,... ORPHA:2032
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Gastrointestinal dysmotility, Constipation, Abdominal pain, Abdominal distention, ... OMIM:613662
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Selective Igm Deficiency
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased proporti... ORPHA:331235
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Decreased circulating antibody level, Jaun... ORPHA:381
Trichoepithelioma, Multiple Familial, 1
Basal cell carcinoma OMIM:601606
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Bronchogenic Cyst
Bronchogenic cyst, Pneumonia, Abnormal pleura morphology, Pulmonary cyst, Cough, Dyspnea, Atelect... ORPHA:2357
Wolfram Syndrome
Feeding difficulties in infancy, Diabetes insipidus, Gastrointestinal hemorrhage, Gastric ulcer, ... ORPHA:3463
Sézary Syndrome
Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly, Hepatomegaly, Lympha... ORPHA:3162
Cylindromatosis, Familial
Neoplasm of the skin OMIM:132700
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Arteriosclerosis, Severe Juvenile
Anemia, Delayed puberty, Gastric ulcer OMIM:208060
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmon... ORPHA:199241
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Adenoma sebaceum, Thyroid adenoma, Hypercalcemia, Pituitary prolactin cell a... OMIM:131100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Thrombocytopenia 1
Increased circulating IgA level, Intermittent thrombocytopenia, Increased circulating IgE level, ... OMIM:313900
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Recurrent respiratory infections, Stridor, Neonatal respira... ORPHA:2004
Mpi-Cdg
Hypothyroidism, Gastrointestinal hemorrhage, Decreased liver function, Failure to thrive, Protein... ORPHA:79319
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Enlarged kidney, Complete or near-complete absence of sp... OMIM:613496
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Difficulty walking OMIM:253600
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Leukopenia, Bone marrow hypocellularity OMIM:615190
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Diverticulosis, Small-Intestinal
Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverticula, Ulcerative colit... OMIM:223320
Lichtenstein Syndrome
Neutropenia, Decreased circulating IgA level OMIM:246550
Epidermolysis Bullosa Acquisita
Abdominal pain, Diabetes mellitus, Inflammation of the large intestine ORPHA:46487
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Viral hepatitis, Monoclonal immunoglobulin M proteinemia, Paraprotei... ORPHA:91139
Roifman Syndrome
Decreased circulating antibody level, Eosinophilia, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Wolfram Syndrome 2
Gastric ulcer, Diabetes mellitus OMIM:604928
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased circulating total IgG, Decreased lymphocyte proliferat... ORPHA:221139
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, Decreased circulating antibody level, B lymph... OMIM:616084
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Cryptorchidism, Decreased liver function, Anemia, Abdominal distention, Failure t... OMIM:608104
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphoma, Autoimmune hemolytic anemia, Lymphocytosis, Skin rash, Chronic mucocutaneous candidiasi... ORPHA:911
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Exertional dyspnea, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Wells Syndrome
Eosinophilia ORPHA:901
Cirrhosis, Familial
Increased circulating antibody level, Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Alg6-Cdg
Puberty and gonadal disorders, Feeding difficulties, Macroglossia, Failure to thrive, Increased c... ORPHA:79320
Chronic Pneumonitis Of Infancy
Cyanosis, Ground-glass opacification, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough,... ORPHA:91359
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, Decreased c... ORPHA:79330
Primary Ciliary Dyskinesia
Airway obstruction, Chronic rhinitis, Respiratory failure, Chronic sinusitis, Respiratory tract i... ORPHA:244
Tempi Syndrome
Ascites, Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Dysgammaglobulinemia, Incr... OMIM:300291
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Cap Polyposis
Colorectal polyposis, Hematochezia, Weight loss, Constipation, Abdominal pain, Abdominal distenti... ORPHA:160148
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Abno... ORPHA:79124
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Comple... ORPHA:449400
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Nephrotic Syndrome, Type 1
Hypothyroidism, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Gastroesophageal refl... OMIM:256300
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Increased circulating IgG level, Cirrhosis, Ascites, Spl... ORPHA:2137
Ataxia-Telangiectasia
Decreased circulating antibody level, Lymphopenia, Aplasia/Hypoplasia of the thymus ORPHA:100
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema, Diarrhea OMIM:613960
Amoebiasis Due To Entamoeba Histolytica
Bloody diarrhea, Constrictive pericarditis, Leukocytosis, Weight loss, Gastrointestinal dysmotili... ORPHA:67
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos... ORPHA:275
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Leukocytosis, Thrombocytosis, Intestinal malrotation, Autoimmune h... OMIM:243150
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Trichohepatoenteric Syndrome 2
Small for gestational age, Decreased serum iron, Colitis, Failure to thrive, Hepatitis, Villous a... OMIM:614602
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Pneumonia, Thrombocytosis, Iron deficiency anemia, Abdominal pain, Abnormal inte... OMIM:226300
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Arthritis, Colitis, Inflammation of the large intestine, Neutropenia, Eczema, Failure to thrive, ... OMIM:608809
Immunodeficiency 61
Agammaglobulinemia OMIM:300310
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:210900
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Esophagitis, Neuroendoc... ORPHA:276152
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Linear Iga Dermatosis
Renal neoplasm, Bladder neoplasm, Inflammation of the large intestine ORPHA:46488
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Laryngotracheal Angioma
Cyanosis, Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cholelithiasis, Hepatosplenomegaly, Gastric ulcer, Bacterial endocarditis, Splenome... ORPHA:2072
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Solitary Rectal Ulcer Syndrome
Hematochezia, Bloody diarrhea, Intermittent diarrhea, Decreased body weight, Stercoral ulcer, Blo... ORPHA:209964
Indolent Systemic Mastocytosis
Mastocytosis, Abnormal mast cell morphology, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Good Syndrome
Decreased circulating antibody level, Abnormal leukocyte morphology, Anemia, Aplasia/Hypoplasia o... ORPHA:169105
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Neonatal resp... ORPHA:2257
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Hepatomegaly, Increased circulating antibody level, Anemia, Lymph... OMIM:617591
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune he... OMIM:615952
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... OMIM:150550
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Pulmonary Hemosiderosis
Transient pulmonary infiltrates, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, ... OMIM:178550
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG level, Cholangitis, Increased circulating IgG4 level, Abn... ORPHA:449432
Dystonia 31
Dysphagia, Abnormal posturing OMIM:619565
X-Linked Agammaglobulinemia
Anemia, Hepatitis, Thrombocytopenia, Conjunctivitis, Skin rash, Recurrent pneumonia, Hypocalcemia... ORPHA:47
Desmoplastic Small Round Cell Tumor
Ileus, Sarcoma, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous system, An... ORPHA:83469
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B ly... OMIM:603554
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Reduced n... ORPHA:540
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, T lymphocytopenia, Sclerosing cholangitis, Abnormal CD4:CD8 ratio, Lack of T cell f... ORPHA:572
Ataxia-Telangiectasia
Decreased circulating IgG level, T lymphocytopenia, Leukemia, Defective B cell differentiation, D... OMIM:208900
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Agammaglobulinemia, Decreased circulating antibody level, Neutropenia, Panhypogam... OMIM:601495
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Decreased circulating IgA level, Reduced natural killer cell count, Increased ... OMIM:242860
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Gastroparesis, Abdominal distention, Abnormal gastric ... ORPHA:1876
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... OMIM:234810
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Bone marrow hypocellularity, No... ORPHA:75564
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Systemic Mastocytosis With Associated Hematologic Neoplasm
Nausea, Lymphoma, Peptic ulcer, Thrombocytopenia, Diarrhea, Normocytic anemia, Myeloproliferative... ORPHA:98849
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Anemia, Hepatitis, Villous atrophy, Diarrhea, Reduced natural killer cell... OMIM:619381
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Intraalveolar phospholipid accumulation, Cra... ORPHA:747
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pleural effusion, Cough, Pulmonary arterial hypertension, Chronic pulmonary obstruction... ORPHA:2414
Common Variable Immunodeficiency
Abnormality of the liver, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibo... ORPHA:1572
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Hypocalciuric Hypercalcemia, Familial, Type Ii
Multiple lipomas, Hypercalcemia, Primary hyperparathyroidism, Pancreatitis, Hypermagnesemia, Pept... OMIM:145981
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Increased circulating IgE level OMIM:618523
Enterocolitis
Hematochezia, Abdominal distention, Enterocolitis, Ulcerative colitis OMIM:226150
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer, Arthritis OMIM:161700
Immunodeficiency 23
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Abscess, Neutrope... OMIM:615816
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia OMIM:245650
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Co... OMIM:615947
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:615577
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Constipation, Anemia, Dysphagia, Esophageal stenosis, Recurrent skin infections, Decreased serum ... ORPHA:89842
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Breast carcinoma, Splenomegaly, Anorexia, B-cell lymphoma, Lymphadenopathy, Weight loss ORPHA:86893
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Increased circulating IgE level, Cutaneous abscess OMIM:147060
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia, Hepatomegaly ORPHA:251009
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Colitis, Protracted diarrhea, Infectious encephalitis, Neutropenia,... OMIM:209920
Colonic Atresia
Colonic atresia, Abdominal distention, Duodenal stenosis, Peptic ulcer ORPHA:1198
Pulmonary Alveolar Microlithiasis
Pulmonary infiltrates, Hypoxemia, Tachypnea, Increased pulmonary vascular resistance, Bronchitis,... ORPHA:60025
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Immunodeficiency 67
Liver abscess, Increased circulating IgE level, Transient neutropenia OMIM:607676
Sarcoidosis, Susceptibility To, 2
Emphysema, Pulmonary infiltrates, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalve... OMIM:612387
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Primary Biliary Cholangitis
Biliary cirrhosis, Portal hypertension, Increased circulating IgM level, Ascites, Increased circu... ORPHA:186
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss, Elevated circulating C-reactive protein concentration, Acne, Inflammation of the lar... ORPHA:324964
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Parathyroid Carcinoma
Constipation, Primary hyperparathyroidism, Uterine leiomyoma, Lipoma, Dysphagia, Pancreatitis, Pe... ORPHA:143
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Leukopenia, Increased circulating IgG level, Increased circulating IgA level, ... ORPHA:2298
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Hypoalbuminemia OMIM:617609
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG4 leve... ORPHA:79078
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice, Decreased circulating antibody level, Cholestasis ORPHA:1296
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Lymphoma, Lymphopenia, Intussusception, Celiac ... ORPHA:90363
Sandifer Syndrome
Hiatus hernia, Gastroesophageal reflux, Feeding difficulties, Anemia, Hematemesis, Episodic vomit... ORPHA:71272
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Gastrocutaneous Syndrome
Hiatus hernia, Peptic ulcer OMIM:137270
Alg1-Cdg
Abnormality of the gastrointestinal tract, Decreased liver function, Chronic diarrhea, Hypoalbumi... ORPHA:79327
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Biliary tract obstruction, Splenomegaly, Hepatomegaly, Increased circul... ORPHA:77259
Galloway-Mowat Syndrome 6
High palate, Hypothyroidism, Decreased body weight, Hypoalbuminemia, Decreased response to growth... OMIM:618347
Juvenile Polyposis Of Infancy
Hemangioblastoma, Hematochezia, Subcutaneous lipoma, Gastrointestinal hemorrhage, Intussusception... ORPHA:79076
Cinca Syndrome
Anemia, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Proteus-Like Syndrome
Subcutaneous lipoma, Polycystic ovaries, Splenomegaly, Abnormality of the parathyroid gland, Thym... ORPHA:2969
Rhabdoid Tumor
Renal neoplasm, Weight loss, Sarcoma, Hypercalcemia, Neoplasm of the liver, Neoplasm of the centr... ORPHA:69077
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Failure to thrive in infancy, Chronic diarrhea, Hypoalbuminemia, Pancreatitis OMIM:618805
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Epidermodysplasia Verruciformis, Susceptibility To, 5