Not currently registered for phenotyping at IMPC

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

Gene Summary

RING CCCH (C3H) domains 1
5730557L09Rik,  roquin

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rc3h1 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 Rc3h1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... OMIM:614420
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia OMIM:247800
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Failure to thrive, Elevated circulating C-reactive prot... OMIM:616050
Immune Thrombocytopenia
Platelet antibody positive, Thrombocytopenia OMIM:188030
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemi... OMIM:300635
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Lymphoproliferative disorder, Decreased CD4:CD8 rat... OMIM:615897
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p... OMIM:613779
Immunodeficiency 18
Defective T cell proliferation, Recurrent gastroenteritis, Recurrent otitis media, Decreased prop... OMIM:615615
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Abnormal natura... OMIM:613101
Immunodeficiency, Common Variable, 11
Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of clas... OMIM:615767
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Hodgkin lymphoma, Hepatosplenomegaly, Decreased circulating antibod... OMIM:618261
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthri... OMIM:619510
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... OMIM:209920
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Recurrent pne... OMIM:619281
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c... OMIM:615513
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Microcytic anemia, Iron deficiency anemia, Protein-losing ent... ORPHA:398063
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased ci... OMIM:618108
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, B-cell lym... OMIM:619924
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... OMIM:604416
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Autoimmunity, Micro... ORPHA:567544
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Hyperlipidemia, Vomiting, Protein-losing enteropathy,... OMIM:615863
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Uveitis, Inflammation of the la... OMIM:614700
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Abnormal small intestinal villus morphology, Hypoalbuminemia, Hypocalcemia, ... ORPHA:90362
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... OMIM:300853
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Follicular hyperplasi... OMIM:614470
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic... OMIM:614602
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Chro... OMIM:616433
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia, Hepatiti... OMIM:304790
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Lymphoma, Hepatosplenomegaly, Decreased proportion of class-switched memo... OMIM:619126
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, T lymphocytopenia, Hemolytic anemia, Psoriasiform dermatitis, Decreased proporti... OMIM:606367
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Br... OMIM:617638
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Mantle Cell Lymphoma
Splenomegaly, B-cell lymphoma, Lymphadenopathy ORPHA:52416
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... ORPHA:911
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder OMIM:242880
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal circulating enzyme concentration or activity, Abnormal small intestinal mucos... ORPHA:103907
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun... ORPHA:98813
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Autoimmunity, Elevated circulating aspartate amino... ORPHA:158061
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, Elevated circulating C-reactive... OMIM:619381
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Liver kidney microsome type 1 antibody positivity... ORPHA:2137
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Increased circulatin... OMIM:209950
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... OMIM:618495
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Diarrhea 9
Diarrhea, Failure to thrive, Villous atrophy OMIM:618168
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... OMIM:619445
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He... OMIM:616100
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma ORPHA:66661
Pseudomyxoma Peritonei
Nausea and vomiting, Abnormal peritoneum morphology, Intestinal obstruction, Abdominal pain, Lymp... ORPHA:26790
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Platelet antibody positive, Increased B cell ... OMIM:603909
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Obesity, Cardiomegaly ORPHA:88643
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Lymphopenia, Pneumonia, Anorexia, Eosinophilia, Diarrhea, Recurrent pne... ORPHA:169160
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Dysgammaglobulinemia, Abdominal pain, Malabsor... ORPHA:100025
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM... OMIM:153600
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Immunodeficiency 48
Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrh... OMIM:269840
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphaden... OMIM:240500
5-Oxoprolinase Deficiency
Abdominal pain, Diarrhea, Enterocolitis, Reduced 5-oxoprolinase level, Vomiting OMIM:260005
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Netherton Syndrome
Villous atrophy, Failure to thrive, Recurrent skin infections, Eczema, Allergic rhinitis, Increas... OMIM:256500
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ... OMIM:607765
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... OMIM:615190
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... OMIM:618852
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iro... ORPHA:37042
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Villous atrophy, Osteomy... OMIM:614162
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... OMIM:619858
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Failure to thrive, Diarrhea, Vomiting, Protein-losing enteropathy,... OMIM:602579
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Hodgkin lymphoma, Polyclonal elevatio... OMIM:236000
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Anal fissure, Abscess, Perianal abscess, Lymphadeni... OMIM:618935
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Lymphoproliferative disorder, A... ORPHA:276
Atypical Hemolytic Uremic Syndrome
Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:2134
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... ORPHA:397596
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Myelodysplasia OMIM:162830
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Proteinuria, Thrombocytopenia OMIM:189800
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Dietary Iron Overload Disease
Viral hepatitis, Hepatic steatosis, Hepatomegaly, Increased circulating ferritin concentration, P... ORPHA:139507
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocy... OMIM:246700
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... OMIM:301074
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... OMIM:603552
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... OMIM:619644
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Antinuclear antibody positivity, Malar rash, Systemic lupus erythema... OMIM:301080
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pai... ORPHA:67
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... OMIM:300400
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Antinuclear antibody positivity, Au... ORPHA:99931
X-Linked Agammaglobulinemia
Sinusitis, Glossoptosis, Conjunctivitis, Hypocalcemia, Neutropenia, Chronic otitis media, Recurre... ORPHA:47
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... OMIM:618999
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Necrotizing enterocolitis, Hepatomegaly, Elevated circulating creatine kinase ... OMIM:201475
Cernunnos-Xlf Deficiency
Autoimmunity, Thrombocytopenia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Anemia ORPHA:169079
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... ORPHA:2686
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... ORPHA:33110
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Elevated circulating C-re... OMIM:619573
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Myelodysplasia, Autoimmune thrombocytopenia, Impaired Ig class switc... OMIM:608184
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... ORPHA:848
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Autoimmunity, Abnormality of the ton... ORPHA:229717
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... OMIM:619377
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepatit... ORPHA:391487
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Lymphadenopathy ORPHA:99976
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... ORPHA:100026
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... ORPHA:79301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... ORPHA:277
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive ORPHA:172
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... OMIM:615947
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy ORPHA:86893
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Lymphad... OMIM:618048
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Elevated cir... OMIM:614576
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir... OMIM:251880
Syndromic Diarrhea
Lymphopenia, Villous atrophy, Hepatomegaly, Gastritis, Hepatoblastoma, Increased mean platelet vo... ORPHA:84064
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly OMIM:619175
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... OMIM:231100
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... OMIM:214900
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... ORPHA:810
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated pro... ORPHA:3261
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Abdominal pain, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:42642
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Increased circulating ferritin con... OMIM:618963
Graft Versus Host Disease
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... ORPHA:39812
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Griscelli Syndrome
Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Pyloric steno... ORPHA:381
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Goiter, Breast carcinoma, Abnor... ORPHA:97290
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Failure to thrive, Sinusitis, Decreased propor... ORPHA:83471
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Abdominal pain, Malab... ORPHA:2070
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Mesangial hypercellula... OMIM:616414
Carcinoid Syndrome
Nausea and vomiting, Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Lack o... ORPHA:100093
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Stomatitis, Autoimmunity, Autoimmune thr... OMIM:613011
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Elevated circulating creatine kinase concent... OMIM:615895
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Anemia of ... ORPHA:75564
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circulating IgM le... ORPHA:37748
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... OMIM:615122
Q Fever
Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti... ORPHA:781
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid ... ORPHA:536
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypopl... OMIM:557000
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increas... OMIM:616005
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Portal vein t... ORPHA:33402
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur... OMIM:617718
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit... ORPHA:589
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Vomiting, Hepati... OMIM:614480
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... OMIM:616871
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Elevated ci... OMIM:214950
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Nausea, Poor appetite, Fulminant hepatitis, Jaundice... OMIM:618549
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating... ORPHA:83313
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma... ORPHA:562639
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... OMIM:619705
Hepatoportal Sclerosis
Elevated hepatic transaminase, Anticardiolipin IgG antibody positivity, Portal hypertension, Hype... ORPHA:64743
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Cirrhosis,... OMIM:613490
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Intrahepatic cholestasis, In... OMIM:601847
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Hepatic ste... OMIM:608709
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... ORPHA:139402
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized l... ORPHA:829
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Sepsis In Premature Infants
Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Eleva... ORPHA:90051
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Elevated hepatic transaminase, Proteinuria, Autoimmunity, Abnormality of the kidney, Chronic kidn... ORPHA:275555
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Autoimmunity, Cholangitis, Portal hypertension, Hypersplenis... ORPHA:228426
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Chilblains, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Myositis, Aplastic anemia, Autoimmunity, Pure red cell aplasia, Glomerulonephritis, Anti-acetylch... ORPHA:99867
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Decreased acid sphingomyeli... OMIM:607616
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... ORPHA:227990
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia OMIM:602079
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia, Arthritis ORPHA:1195
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Hepatomegaly, Elevate... ORPHA:131
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Elevated circulating C-re... ORPHA:324964
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay ORPHA:79238
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Follicular thyroid carcinoma, A... ORPHA:319487
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lymphopenia, Autoimmune hemolytic ane... ORPHA:331206
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... ORPHA:824
Renal insufficiency, Anemia ORPHA:655
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the ovary, Abnormal lymph ... ORPHA:543
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Diarrhea, Jaundice, Esopha... ORPHA:75234
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency 16
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia OMIM:615593
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Diarrhea, Intrahepa... OMIM:235555
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy ORPHA:545
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Failure to thrive, Small for gestational age, Increased mean plate... OMIM:222470
Juvenile Arthritis
Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody... ORPHA:93126
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Rectal prolapse, Bloody diarrhea, Vomiting, Acute colitis, Hyponatremia, ... ORPHA:90038
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... OMIM:600802
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia, Abdominal pain OMIM:118830
Immunodeficiency 56
Failure to thrive, Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Panhypogam... OMIM:615207
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis, Increa... OMIM:127550
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... ORPHA:227982
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Hypoalbuminemia... ORPHA:171
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, C... ORPHA:443811
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pericarditis, Failure to thrive, Fe... OMIM:212065
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Indolent Systemic Mastocytosis
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... ORPHA:98848
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Vomiting, Hypergalac... OMIM:230350
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... ORPHA:69126
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... OMIM:616809
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Abdominal distention, Spleno... ORPHA:75233
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Recurrent urinary tract infections, Autoimmu... ORPHA:47612
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Generalized lymphadenopathy, P... OMIM:618986
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia OMIM:614493
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Mac... ORPHA:398124
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Diarrhea, Intrahepatic ... OMIM:602347
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Hashi... ORPHA:49041
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Lupus anticoagulant, Nephritis, Lymphadenopathy, Nephrotic syndrome, Microa... ORPHA:93552
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Immunodeficiency 102
Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti... OMIM:301082
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Diarrhea, Malabsorption OMIM:600955
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Abnormal lactate dehydrogenase level, Macrothrombo... ORPHA:67044
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Portal hypertension, Increased circulating IgA level, C... ORPHA:186
Drug-Induced Lupus Erythematosus
Pericarditis, Antinuclear antibody positivity, Autoimmune antibody positivity, Anemia, Hematuria,... ORPHA:231111
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Abnormal circulating acylcarnitine concentration, Elevated hepatic transam... ORPHA:71212
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Cardiomegaly, M... OMIM:618278
Anemia, Acute kidney injury, Thrombocytopenia ORPHA:673
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology... ORPHA:3392
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis, Thrombocytopenia ORPHA:3327
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Recurrent skin infections, Splenomegaly, Cleft palate, Decreased circu... OMIM:620210
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu... ORPHA:3260
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Autoi... OMIM:617780
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... OMIM:224100
Schimke Immuno-Osseous Dysplasia
Proteinuria, Autoimmunity, Microscopic hematuria, Minimal change glomerulonephritis, Thrombocytop... ORPHA:1830
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level OMIM:152800
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... ORPHA:101330
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Antinuclear antibody positiv... OMIM:620321
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Splenomegaly, Lymphoma, L... ORPHA:3162
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... ORPHA:79126
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuri... ORPHA:54057
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... OMIM:256810
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, B... OMIM:226990
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Anoperi... OMIM:613960
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... ORPHA:26791
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt... ORPHA:98849
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Bone marrow hy... ORPHA:88
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abscess, Eosinophili... ORPHA:400
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pain, Erythema nodosu... OMIM:611762
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Vomiting, Hepatic fibrosis, ... ORPHA:53035
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Myh9-Related Disease
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Increased mean platelet volume, ... ORPHA:182050
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bro... OMIM:242700
Microvillus Inclusion Disease
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Squamous cell carcinoma, Increased circulating IgG... OMIM:243700
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ... ORPHA:449432
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Granulomatous Slack Skin
Lymphoma, Hodgkin lymphoma, Abnormal lymph node morphology ORPHA:33111
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me... ORPHA:91138
Liver abscess, Rheumatoid factor positive, Knee osteoarthritis, Leukopenia, Abnormality of the li... ORPHA:1304
Legionnaires Disease
Nausea and vomiting, Hyponatremia, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Diarrhea,... ORPHA:549
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption,... ORPHA:77297
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Autoimmunity, Splenomegaly, ... OMIM:615387
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Hepatic ... ORPHA:108
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Conjunctivitis, Chronic oral candidiasis, Anemia OMIM:616740
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Tyrosinemia Type 1
Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Autoimmune hemolytic anemia, Pancytopenia, Skin rash, Autoimmunity, Pneumonia, Autoimmune thrombo... ORPHA:1855
Bone Marrow Failure Syndrome 4
Eczema, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:618116
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Short stature, Postnatal growth retardation, Splenomegaly, Lymph... OMIM:609981
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Thrombocytopenia OMIM:613606
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocyt... OMIM:601457
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Proteinuria, Anti... ORPHA:90060
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Protei... OMIM:614034
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... ORPHA:79319
Glycogen Storage Disease Vi
Postnatal growth retardation, Hepatomegaly, Increased hepatic glycogen content, Failure to thrive... OMIM:232700
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopathy ORPHA:56425
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... OMIM:301220
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Junctional Epidermolysis Bullosa Inversa
Anemia, Gastrointestinal inflammation ORPHA:79405
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N... OMIM:232220
Classic Mycosis Fungoides
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... ORPHA:2584
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Verrucae, Decreased circulating antibody level OMIM:193670
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Gastrostomy tube f... OMIM:613385
Immune Deficiency, Familial Variable