Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
interleukin 10
Synonyms:
cytokine synthesis inhibitory factor,  IL-10

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Il10 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 Il10 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Il10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... OMIM:618982
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in... OMIM:614372
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... OMIM:620449
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Increased circulating IgE level, Recurrent otitis media, Hyp... ORPHA:98813
Immunodeficiency 115 With Autoinflammation
Recurrent viral infections, Postnatal growth retardation, Superficial dermal perivascular inflamm... OMIM:620632
Refractory Celiac Disease
Inflammatory abnormality of the skin, Microcytic anemia, Hypophosphatemia, Weight loss, Abdominal... ORPHA:398063
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Ecz... OMIM:613953
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Mucoid d... OMIM:615767
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Celiac Disease, Susceptibility To, 1
Diarrhea, Postnatal growth retardation, Weight loss, Abdominal distention, Abdominal pain, Celiac... OMIM:212750
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Atopic dermatitis, Carious teeth, Increased circulating ferritin... OMIM:620603
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... OMIM:618204
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co... OMIM:613101
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont... OMIM:604416
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Recurrent pneumonia, Mandibular prognathia, Microcytic anemia, Hepatosplenomegaly, Mitral regurgi... OMIM:619750
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrh... OMIM:616050
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Recurrent viral infections, Increased circulating IgE... OMIM:620532
Solitary Rectal Ulcer Syndrome
Hematochezia, Tenesmus, Stercoral ulcer, Anal fissure, Bloody diarrhea, Chronic constipation, Epi... ORPHA:209964
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulat... ORPHA:319552
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Diarrhea, Intestinal obstruction, Abnormal intestine morphology, Hepatomegaly, Recurrent lower re... OMIM:226300
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Sple... OMIM:608971
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Chronic tinea infection, Increased circulating IgE leve... OMIM:212050
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Alg12-Cdg
Recurrent hypoglycemia, Overlapping fingers, Micrognathia, Abnormal circulating IgG level, Crypto... ORPHA:79324
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Postnatal growth retardation, ... ORPHA:289157
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Immunodeficiency 70
Verrucae, Decreased circulating total IgG, Chronic fatigue, Recurrent sinusitis, Colitis, Achalas... OMIM:618969
Progeria-Short Stature-Pigmented Nevi Syndrome
Recurrent viral infections, Insulin-resistant diabetes mellitus, Microcytic anemia, Micrognathia,... ORPHA:2959
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,... OMIM:618944
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE ... ORPHA:443811
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... OMIM:605258
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Reduced natural killer cell ... ORPHA:540
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Diarrhea, Intussusception, Failure to thrive, Duodenal adenocarcin... OMIM:174900
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ... OMIM:243700
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypo... OMIM:619013
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Dominant Beta-Thalassemia
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231226
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Thyroid carcinoma, Duodenal adenocarci... ORPHA:157794
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Diarrhea, Enlarged mesenteric lymph node, Anorexia, Hepatosplenomegal... OMIM:209950
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Vomiting, Toe syndactyly, Elbow flexion contracture, Clinodactyly of the 5th finger, ... OMIM:616809
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... OMIM:613494
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Malar rash, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Spleno... OMIM:603909
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Hip dislocation, Keratitis, Eczematoid dermatitis, Increased circu... OMIM:618523
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... ORPHA:424019
Congenital Disorder Of Glycosylation, Type Iil
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Pancy... OMIM:614576
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Verrucae, Recurrent viral infections, Recurrent respiratory infecti... ORPHA:217390
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom... OMIM:610539
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Erythroderma, Glomerulonephritis, Neutropenia, Autoimmune thromb... OMIM:304790
Peutz-Jeghers Syndrome
Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Abdominal ... ORPHA:2869
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased... OMIM:606367
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T ly... OMIM:619164
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Recurrent l... ORPHA:436159
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Cirrhosis, H... ORPHA:264580
Neuroendocrine Neoplasm Of Appendix
Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anorexia, Appendiceal mucinous n... ORPHA:100079
Niemann-Pick Disease, Type A
Vomiting, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspa... OMIM:257200
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop... ORPHA:3261
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Diarrhea, Inflammatory abnormality of the skin, Recurrent pneumo... ORPHA:277
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, W... ORPHA:26790
Beta-Thalassemia Major
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231214
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... OMIM:617638
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Increased circulating interleukin 8 concentration, Finger swelling, Microcy... OMIM:256040
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Osteomalacia, Recu... OMIM:619381
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In... OMIM:619868
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, Medullo... OMIM:276300
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Failure to thrive in infancy, Hepatic... OMIM:618805
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Bro... OMIM:608957
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Failure to thrive, Increased circulating ferritin concentration, Microcytic a... OMIM:600462
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Recurrent otitis media, Micrognathia, Sterile abscess, High pala... OMIM:618282
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... ORPHA:444463
Juvenile Polyposis Of Infancy
Hypoalbuminemia, High, narrow palate, Intestinal bleeding, Diarrhea, Gastrointestinal hemorrhage,... ORPHA:79076
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Recurrent pneumonia, Decreased circulating IgG level, Recurrent otiti... OMIM:613502
Immunodeficiency 23
Allergic rhinitis, Increased circulating IgE level, Lymphopenia, Molluscum contagiosum, Abscess, ... OMIM:615816
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Reduce... OMIM:619281
Lead Poisoning
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level... ORPHA:330015
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Lymphopenia, Weight loss, Abdominal pain, Hypoproteinemia, Opportunistic inf... ORPHA:90362
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec... ORPHA:169154
Shwachman-Diamond Syndrome
Recurrent viral infections, Aplastic anemia, Carious teeth, Hypopituitarism, Pancytopenia, Increa... ORPHA:811
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Inflammation of the large intestine, Craniofacial osteosclerosis, Abnormal epiphysis ... ORPHA:324964
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Aspergillosis
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Osteomye... ORPHA:1163
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Pancytopenia, Chronic infection, Anemia of inadequate production, Acute myelo... ORPHA:75564
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia OMIM:616941
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Recurrent viral infections, Increased circulating IgE level, I... OMIM:620565
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Eczematoid dermatitis, Increased circulating IgE level, Decreased prop... OMIM:617241
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial i... OMIM:613501
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent... OMIM:607594
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased LDL ch... ORPHA:470
Immunodeficiency 37
Colitis, Recurrent infections, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Diarrhea, Recurrent hypoglycemia, Postnatal growth retardation, Polycystic ovaries, Increased bod... ORPHA:79240
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... ORPHA:906
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ... ORPHA:186
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... OMIM:147060
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Pneum... OMIM:618806
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph... OMIM:617006
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... OMIM:614470
Sickle Cell Anemia
Hypochromic anemia, Persistence of hemoglobin F, Microcytic anemia, Abnormality of the spleen, Fi... ORPHA:232
Immunodeficiency 32B
Pneumonia, Hypoalbuminemia, Failure to thrive, Recurrent respiratory infections, BCGitis, Impaire... OMIM:226990
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liv... OMIM:608104
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos... OMIM:618534
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Ski... OMIM:603552
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Pes planus, Recurrent pharyngitis... ORPHA:168569
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent bacterial infections,... OMIM:608106
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune h... OMIM:601859
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... OMIM:612692
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... OMIM:618108
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Carious teeth, Xanthelasma, Hepatic... ORPHA:79259
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d... OMIM:619752
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Histiocytosis, Familial Lipochrome
Recurrent infections, Histiocytosis, Increased alpha-globulin, Increased circulating antibody level OMIM:235900
Macrophage Activation Syndrome
Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Hepat... ORPHA:158061
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Cachexia, Weight loss, Cirrhosis, Abdominal distention, Abdominal pain, Macrovesicular ... ORPHA:298
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec... OMIM:243150
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circula... ORPHA:391487
Congenital Disorder Of Glycosylation, Type Ia
Diarrhea, Hepatic steatosis, Feeding difficulties in infancy, Hepatomegaly, Osteopenia, Villous a... OMIM:212065
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Wolcott-Rallison Syndrome
Acute hepatic failure, Hyperbilirubinemia, Decreased body weight, Neutropenia, Metaphyseal dyspla... ORPHA:1667
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Weight loss, Hepatomegaly... ORPHA:465508
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail... OMIM:278000
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnut... ORPHA:2494
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Abnormality ... ORPHA:2902
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoi... OMIM:619220
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Gastroesophageal reflux, Failure to thrive, Microcytic anemia, Elevated circulatin... OMIM:612073
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Punctate Palmoplantar Keratoderma Type 1
Basal cell carcinoma, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Pain, Esophagea... ORPHA:79501
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o... ORPHA:911
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Recurrent viral infections, Cholestasis, Lymphopenia, D... OMIM:619573
Immunodeficiency 58
Allergic rhinitis, Molluscum contagiosum, Esophagitis, Dysphagia, Recurrent cutaneous abscess for... OMIM:618131
Eosinophilic Gastroenteritis
Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti... ORPHA:2070
Hepatoportal Sclerosis
Hypersplenism, Hyperbilirubinemia, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Intra... ORPHA:64743
Sepsis In Premature Infants
Diarrhea, Decreased body weight, Neutropenia, Abdominal distention, Hepatomegaly, Elevated circul... ORPHA:90051
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Bloody diarrhea, Acute colitis, Elevated circulating creatinine concentration... ORPHA:90038
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Eczematoid dermatitis, Lymphoma, Recurrent respiratory infections, Increased circulat... ORPHA:2314
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Micrognathia... ORPHA:124
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, Inflammatory abnormality of the skin, Recurrent viral infections, Increased circulating... OMIM:102700
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... OMIM:619846
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... OMIM:615285
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... ORPHA:247798
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Recurrent otitis media, Overlapping toe, Protruding tongue, Neutrophilia, Hepa... ORPHA:99843
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... ORPHA:100024
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... OMIM:618394
Alg6-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Increased circulating androgen concentration, Failur... ORPHA:79320
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... ORPHA:275
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Clinodactyly, Failure to thri... OMIM:618048
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Hepatomegaly, Macrovesicular hepatic steatosis, Clubbing, Patent ductus arteriosus, ... OMIM:617303
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis,... OMIM:611762
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Lymphopenia, Intestinal obstruction, Cirrhosis, Celiac disease, Gastrointest... ORPHA:90363
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir... OMIM:300400
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatic failure, Diarrhea, Rickets, Intrahepatic cholestasis, Elevated circ... OMIM:607765
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sple... ORPHA:2930
Immunodeficiency 19
Recurrent otitis media, Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer ce... OMIM:615617
Cog4-Cdg
Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra... ORPHA:263501
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Spider hemangioma, Increased to... ORPHA:2137
Majeed Syndrome
Metaphyseal irregularity, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis,... ORPHA:77297
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Colon cancer, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hodgkin lym... ORPHA:158057
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Microcytic anemia, Gastrointestinal infarctions, Skin rash, Viscer... ORPHA:1059
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Sepsis, Eczematoid dermatitis, Failure to thr... OMIM:256500
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Microcytic anemia, Osteomyelitis, Hepato... OMIM:609628
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased circulating carnitine concentration, Abnormal circulating selenium concentration, Cario... ORPHA:89842
Atransferrinemia
Abnormality of the liver, Hypochromic anemia, Atransferrinemia, Congestive heart failure OMIM:209300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hepatomegaly, Reduced natural killer cell act... OMIM:603553
Sweet Syndrome
Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Chronic lympha... ORPHA:3243
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Temple Syndrome
Small hand, Clinodactyly, Recurrent otitis media, Micrognathia, Cryptorchidism, High palate, Shor... OMIM:616222
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Increased circulating IgE level, Abnormal delayed ... OMIM:301000
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative... OMIM:613779
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczematoid dermatitis, Increased circulating IgE level, Postnatal growth retardation, Decreased s... OMIM:618985
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal cir... OMIM:620376
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormal rectum morphology, Ganglioneuroma, Hypertension, Episodic a... ORPHA:251992
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide... ORPHA:70593
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Inflammation of the large intestine, Lymphadenitis, Cholestasis, Erythroderma, Hepatomegaly, Abdo... OMIM:615895
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Vomiting, Increased circulating lactate dehydrogenase concentration, Eczemat... OMIM:617780
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small hand, Clinodactyly, Recurrent otitis media, Postnatal growth retardation, Micrognathia, Cry... ORPHA:96184
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Small hand, Maturity-onset diabetes of the young, Clinodactyly, Recurrent oti... ORPHA:254531
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk... OMIM:618213
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice OMIM:179700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut... OMIM:301082
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Joint hypermobility, Decreased body ... OMIM:607906
Glycogen Storage Disease Ib
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:232220
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Short toe, Failure to thrive, Microcytic anemia, Retrognathia, Micrognathia, Cryp... ORPHA:98791
Secondary Short Bowel Syndrome
Vomiting, Diarrhea, Volvulus, Failure to thrive, Malnutrition, Malabsorption, Villous atrophy, Ab... ORPHA:95427
Shigellosis
Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abdominal pain, Abnormal blood... ORPHA:810
Immunodeficiency 25
Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Recurrent candida infe... OMIM:610163
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Hyperbilirub... ORPHA:247598
Abetalipoproteinemia
Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Talipes equinovarus, Cirrhosis, Hepatomega... ORPHA:14
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Failure to thri... OMIM:615863
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... OMIM:619773
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Immunodeficiency 13
Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop... OMIM:615518
Proteus-Like Syndrome
Genu recurvatum, Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, L... ORPHA:2969
Late-Onset Isolated Acth Deficiency
Diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, Abdominal pain, Celiac ... ORPHA:199299
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Increas... ORPHA:77259
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirub... OMIM:613658
Immunodeficiency 47
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... OMIM:300972
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Conjunctivitis, Recurrent otitis ... OMIM:240500
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Chilblains, Hepatic steatosis, Weight loss, Hepatomegaly, Hypothyroidism, Ane... OMIM:619487
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Joi... OMIM:620210
Wolman Disease
Hepatic failure, Malnutrition, Adrenal calcification, Adrenal insufficiency, Nausea and vomiting,... ORPHA:75233
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Severe varicella zoster infection, Failure to thrive, Lymphoma,... ORPHA:397596
Trichohepatoenteric Syndrome 2
Diarrhea, Small for gestational age, Failure to thrive, Villous atrophy, Chronic hepatitis, Colit... OMIM:614602
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Recurrent respiratory infections, Failure to thrive, Lymphopenia, Leukopenia, Mala... OMIM:615934
Autosomal Dominant Spastic Paraplegia Type 29
Impaired vibratory sensation, Abnormal rectum morphology, Hyperbilirubinemia, Hiatus hernia, Impa... ORPHA:101009
Papa Syndrome
Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,... ORPHA:69126
Whipple Disease
Diarrhea, Cachexia, Anorexia, Hepatomegaly, Abdominal pain, Pedal edema, Gastrointestinal hemorrh... ORPHA:3452
Syndromic Diarrhea
Lymphopenia, Colitis, Hepatoblastoma, Cirrhosis, Hepatomegaly, Patent ductus arteriosus, Aortic r... ORPHA:84064
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Severe varicella zoster infection, Eosinophilic granul... OMIM:616433
Congenital Disorder Of Glycosylation, Type Iq
Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Failure to thrive... OMIM:612379
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder, Absent leuko... OMIM:242880
Alg1-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Sepsis, Limitation of joint mobility, Decreased live... ORPHA:79327
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepa... OMIM:308230
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Broad thumb, Broad hallux, Insulin-resistant diabetes mellitus, Microcytic anemia, D... ORPHA:293967
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Osteopenia, Carious teeth, Failure to thrive, Malnutrition, Exocrine pancreati... OMIM:612714
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Immunodeficiency 27B
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... OMIM:615978
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminas... ORPHA:79230
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Diarrhea, Lymphopenia, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respiratory tract i... OMIM:616100
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Diarrhea, Elevated circulating hepatic transaminase concentration, Protracted di... ORPHA:67
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Diarrhea, Malnutrition, Hypocholesterolemia, Postnatal growth retardati... ORPHA:96180
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Villous atrophy, Splenomegaly, Hepatomeg... OMIM:608776
Bacterial Toxic-Shock Syndrome
Diarrhea, Abscess, Glomerulonephritis, Abdominal pain, Tachycardia, Recurrent skin infections, Me... ORPHA:36234
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Abdominal ... OMIM:618852
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni... OMIM:601457
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Wilson Disease
Hypouricemia, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhos... OMIM:277900
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... OMIM:175500
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Microcytic anemia, Abnormal circ... ORPHA:79278
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ... OMIM:300636
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Trichohepatoenteric Syndrome 1
Cholestasis, Large placenta, Cirrhosis, Hepatomegaly, Jaundice, Aortic regurgitation, Avascular n... OMIM:222470
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... OMIM:602450
Congenital Generalized Lipodystrophy
Insulin resistance, Mandibular prognathia, Precocious puberty in females, Failure to thrive, Cong... ORPHA:528
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Protein-losing enteropathy, Erysipelas, Intestinal lymphangiectasia, Mild postna... OMIM:235510
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Congenital Disorder Of Glycosylation, Type Iiw
Elevated gamma-glutamyltransferase level, Microcytic anemia, Ankyloglossia, Recurrent otitis medi... OMIM:619525
X-Linked Agammaglobulinemia
Weight loss, Neutropenia, Meningitis, Recurrent cutaneous abscess formation, Chronic otitis media... ORPHA:47
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... OMIM:607616
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Swelling of proximal interphalangeal joints, Hepatosplenome... ORPHA:3260
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Carious teeth, Abnormal circulating selenium concentration, Anal fissure, Ankyloglossia, Glomerul... ORPHA:79408
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Micrognathia,... OMIM:259720
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Arthralg... OMIM:614878
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Vasculitis, Failure to th... OMIM:617718
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Adrenal calcification, Nausea and vomiting, Splenomegaly, Cirrhosis, H... ORPHA:75234
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Cryptorchidism, Talipes equinovarus, Patent ductus arteriosus, Hypocalcemia, Decreas... OMIM:607143
Lysosomal Acid Lipase Deficiency
Diarrhea, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Xanthela... ORPHA:275761
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato... OMIM:606069
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... ORPHA:231401
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... ORPHA:449395
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentration, Decreased liver func... ORPHA:42
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Chronic infection, Palpitations, L... ORPHA:86839
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Diarrhea, Failure to thrive, Recurrent urinary tract infections, Recurren... OMIM:618495
Degcags Syndrome
Toe syndactyly, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia, Hyperbi... OMIM:619488
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Hypoglycemia, Recurrent urinary tra... OMIM:612783
Graft Versus Host Disease
Diarrhea, Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru... ORPHA:39812
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplasm, Weight loss... ORPHA:98849
Solitary Fibrous Tumor
Uterine neoplasm, Genital neoplasm, Hypoglycemia, Recurrent hypoglycemia, Vaginal neoplasm, Neopl... ORPHA:2126
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Laryngeal papilloma, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomeg... OMIM:617388
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Increased circulating cortisol level, Chronic infection, Hepatic steat... ORPHA:139507
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Aggressive Systemic Mastocytosis
Diarrhea, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Elevated circulating alkaline phosphat... ORPHA:98850
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Increased circulating antibody leve... ORPHA:99826
Hemochromatosis, Type 3
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:604250
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Growth delay, Failure to thrive, Hypocystinemia, Decreased circulating IgA l... OMIM:617744
Restrictive Dermopathy 2
Gastroesophageal reflux, Rectal prolapse, Feeding difficulties OMIM:619793
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Diarrhea, Aplastic anemia, Carious teeth, Cryptorchidism, Patellar aplasia,... ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Diarrhea, Aplastic anemia, Carious teeth, Cryptorchidism, Patellar aplasia,... ORPHA:221016
Al Amyloidosis
Xerostomia, Postural hypotension with compensatory tachycardia, Elevated circulating alkaline pho... ORPHA:85443
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Neopl... ORPHA:99867
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ... ORPHA:183675
Alpha-Heavy Chain Disease
Lymphoma, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Hypocalcemia, Dysgamm... ORPHA:100025
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia, Palmoplantar keratoderma, Failure to thrive, Increased circulatin... OMIM:615508
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Sepsis, Palmoplantar keratoderma, Smooth tongue, Failure to thrive, Squamous cel... ORPHA:79396
Schnitzler Syndrome
Vasculitis, Lymphoma, Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthr... ORPHA:37748
Plummer-Vinson Syndrome
Decreased circulating ferritin concentration, Iron deficiency anemia, Esophageal web, Dysphagia, ... ORPHA:54028
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Hamamy Syndrome
Hypochromic anemia, Microcytic anemia, Micrognathia, Mitral regurgitation, Cryptorchidism, Hypopa... OMIM:611174
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Too... ORPHA:89937
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... ORPHA:482
Chylomicron Retention Disease
Hypoalbuminemia, Vomiting, Diarrhea, Hypotriglyceridemia, Failure to thrive, Malnutrition, Hypoch... OMIM:246700
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Lower limb asymmetry, Congestive heart failure, ... ORPHA:90308
Dubowitz Syndrome
Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Postnatal growth retardation, Micro... OMIM:223370
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Postnatal growth retardation, Hy... ORPHA:79303
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Myalgia, Increased circulating antibod... ORPHA:48104
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Rectal prolapse, Intussusception OMIM:112200
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Mpi-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hep... ORPHA:79319
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Congestive heart failure, Decreased HDL cholesterol concentration, Increased ... OMIM:615703
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... OMIM:616622
Analbuminemia
Hypoalbuminemia, Hypotension, Elevated circulating transferrin concentration, Increased LDL chole... OMIM:616000
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration OMIM:618015
Multiple Myeloma
Osteopenia, Pathologic fracture, Functional abnormality of the gastrointestinal tract, Elevated c... ORPHA:29073
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hepat... ORPHA:100075
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Normochromic microcytic anem... OMIM:610198
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Diarrhea, Chronic mucocutaneous candidiasis, Recurrent protozoan infe... ORPHA:572
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Malar f... OMIM:266510
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Pes cavus, Elevated circulating creatine kinase concentration, Hypothyroidism,... OMIM:251900
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... OMIM:241600
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Cyclic Neutropenia
Sepsis, Periodontitis, Recurrent tonsillitis, Opportunistic infection, Cervical lymphadenopathy, ... ORPHA:2686
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Ankle swelling, Acute monocytic leukemia, Central hypothyroidism, Increased c... ORPHA:514
Avian Influenza
Pneumonia, Hypoalbuminemia, Myelitis, Diarrhea, Vomiting, Hepatitis, Elevated circulating hepatic... ORPHA:454836
Acatalasemia
Type I diabetes mellitus, Neoplasm of the larynx, Microcytic anemia, Type II diabetes mellitus, R... ORPHA:926
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Vomiting, Secretory diarrhea, Failure to thrive, Increased circulating IgE l... OMIM:616069
Rothmund-Thomson Syndrome
Neoplasm of the skin, Diarrhea, Aplastic anemia, Carious teeth, Aplasia/Hypoplasia of the patella... ORPHA:2909
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Potocki-Lupski Syndrome
Gastroesophageal reflux, Dental malocclusion, Failure to thrive, Oral-pharyngeal dysphagia, Hypoc... OMIM:610883
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Recurrent otitis media, Talipes calcaneovalgus, Overlapping toe, Faci... OMIM:270400
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
T-Cell Immunodeficiency With Thymic Aplasia
Diarrhea, Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid dermatitis, Recur... ORPHA:83471
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Membranoproliferative glomerulonephritis, Hemolytic anemia, Thrombocytopenia OMIM:615008
Somatostatinoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97283
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia OMIM:300299
Aredyld Syndrome
Craniofacial hyperostosis, Type I diabetes mellitus, Abnormal pelvic girdle bone morphology, Mand... ORPHA:1133
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Sepsis, Congestive hear... ORPHA:247353
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Decrease... OMIM:616873
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Anemi... ORPHA:75563
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Hepatic fibrosi... OMIM:602579
Zygomycosis
Diarrhea, Ileitis, Pustule, Hematological neoplasm, Acute infectious pneumonia, Neutropenia, Abdo... ORPHA:73263
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Hemophagocytosi... OMIM:619858
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology, Refractory anemia with ringed sideroblasts OMIM:182170
Proteus Syndrome
Rib exostoses, Carious teeth, Finger syndactyly, Exostosis of the external auditory canal, Cachex... ORPHA:744
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermati... OMIM:618935
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Ileus, Nausea and vomiting, Hepatomegaly, Cachexia, Weight loss, Lym... ORPHA:83469
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation, Colit... OMIM:615190
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Meningitis, Hyperkalemia, Intestinal perforation, Abnormal circulating ... ORPHA:544482
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent bacterial infections,... OMIM:606843
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Anorexia... ORPHA:824
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Hypotension, Sepsis, Hepatitis, Cardiomyopathy, Cholestasis, Le... ORPHA:292
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Hypertension, Myocardial infarction, Diabetes mellitus OMIM:608320
Diarrhea 13
Hypoalbuminemia, Vomiting, Secretory diarrhea, Elevated circulating hepatic transaminase concentr... OMIM:620357
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... OMIM:612260
Renpenning Syndrome
High, narrow palate, Severe short stature, Mandibular prognathia, Growth delay, Decreased testicu... ORPHA:3242
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Arthritis ORPHA:139436
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transamina... ORPHA:367
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Addison Disease
Diarrhea, Adrenal calcification, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, ... ORPHA:85138
Combined Oxidative Phosphorylation Deficiency 53
Abdominal distention, Failure to thrive, Osteomyelitis, Hepatomegaly, Elevated circulating C-reac... OMIM:619423
Postinfectious Vasculitis
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti... ORPHA:48435
Mccune-Albright Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia... ORPHA:562
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo... OMIM:613662
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Mitral regurgitation, Tachycardia, Patent ductus arteriosus, Hypertrophic car... ORPHA:505248
Congenital Disorder Of Glycosylation, Type Iit
Small hand, Hypotriglyceridemia, Sandal gap, Iron deficiency anemia, Pineal cyst, Constipation, D... OMIM:618885
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Chronic sinusitis, Otitis media OMIM:300455
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Uterine neoplasm, Bloody diarrhea, Neoplasm of t... OMIM:175200
Boutonneuse Fever
Vasculitis, Diarrhea, Elevated circulating hepatic transaminase concentration, Abnormality of the... ORPHA:83313
Cystic Fibrosis
Recurrent pneumonia, Diarrhea, Bronchiectasis, Exocrine pancreatic insufficiency, Ileus, Rectal p... OMIM:219700
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatic steatosis, Hepatomegaly, Tachycardia, Dysphagia, Osteopenia, Hypertrigl... OMIM:613327
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of the colon, Lipoma, Mu... OMIM:620189
Hyperinsulinemic Hypoglycemia, Familial, 8
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyper... OMIM:620211
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Mevalonic Aciduria
Diarrhea, Morbilliform rash, Hepatosplenomegaly, Fluctuating hepatomegaly, Elevated circulating C... OMIM:610377
Vascular Malformation, Primary Intraosseous
Hypochromic anemia, Ectopic tooth eruption, Elevated circulating alkaline phosphatase concentrati... OMIM:606893
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame... OMIM:617021
Hereditary Amyloidosis With Primary Renal Involvement
Diarrhea, Abnormal lymph node morphology, Hepatosplenomegaly, Intestinal obstruction, Weight loss... ORPHA:85450
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Barth Syndrome
Mandibular prognathia, Dilated cardiomyopathy, Recurrent infections in infancy and early childhoo... OMIM:302060
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Abdominal pain, Iron deficien... ORPHA:309031
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Vomiting, Diarrhea, Elevated circulating hepatic transaminase ... ORPHA:247585
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... OMIM:301081
Morgagni-Stewart-Morel Syndrome
Acne, Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterole... ORPHA:77296
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Abnormal circulating lactate dehydrogenase concentration, Cryptorchidism, Ane... ORPHA:67044
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ... ORPHA:93315
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Dental malocclusion, Increased circulating IgE level, Hypoplastic... ORPHA:1858
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Increased circulating cre... OMIM:613752
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Fractured radius, Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular d... OMIM:616897
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... ORPHA:846
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz... OMIM:609536
Chylomicron Retention Disease
Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Failure to thrive, G... ORPHA:71
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypertension, Hypoalbuminemia OMIM:603278
Immunodeficiency 31C
Diarrhea, Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Weight loss, H... OMIM:614162
Srd5A3-Cdg
Elevated circulating hepatic transaminase concentration, Palmoplantar keratoderma, Microcytic ane... ORPHA:324737
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,... OMIM:300755
Ileal Neuroendocrine Tumor
Increased serum serotonin, Arrhythmia, Weight loss, Abnormal bowel sounds, Functional intestinal ... ORPHA:100078
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Decreased skull ossification, Thrombocytopenia, Anemia, Short stature ORPHA:3319
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Oculocerebral Hypopigmentation Syndrome, Preus Type