Not currently registered for phenotyping at IMPC

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

Gene Summary

BCR activator of RhoGEF and GTPase
breakpoint cluster region,  5133400C09Rik

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 Bcr 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 Bcr by orthology or direct annotation.

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

Disease Similarity of
Matching phenotypes Source
Reticular Dysgenesis
Sepsis, Leukopenia, Dehydration, Chronic otitis media, Failure to thrive, Weight loss, Decreased ... ORPHA:33355
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Decreased prealbumin level, Reduced circulating transferrin concentrat... ORPHA:90363
Isolated Agammaglobulinemia
Sinusitis, Sepsis, Pneumonia, Recurrent cutaneous abscess formation, Failure to thrive, Abnormal ... ORPHA:229717
X-Linked Agammaglobulinemia
Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chroni... ORPHA:47
Autosomal Agammaglobulinemia
Sinusitis, Sepsis, High palate, Neutropenia, Agammaglobulinemia, Bronchiectasis, Chronic otitis m... ORPHA:33110
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Sepsis, Hepatomegaly, Renal tubular dysfunction, Neutropenia, Anemia, Pancreatitis, Hyperammonemi... ORPHA:289916
Immunodeficiency 46
Sepsis, Neutropenia, Failure to thrive, Recurrent sinopulmonary infections, Chronic oral candidia... OMIM:616740
Specific Granule Deficiency 1
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... OMIM:245480
Reticular Dysgenesis
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... OMIM:267500
Congenital Enterovirus Infection
Myocarditis, Sepsis, Leukocytosis, Fetal ascites, Infectious encephalitis, Neutropenia, Leukopeni... ORPHA:292
Galactose Mutarotase Deficiency
Sepsis, Hepatomegaly, Hypergalactosemia, Failure to thrive, Decreased liver function, Cholestasis ORPHA:570422
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Neutropenia, Decreas... ORPHA:37042
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Eczema, Psoriasiform dermatitis, Hepatomegaly, Bronchiectasis, Decreased circulating IgA ... OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Secondary Short Bowel Syndrome
Sepsis, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Failure to th... ORPHA:95427
Sepsis, Eczema, Lactose intolerance, Neutropenia, Neutropenia in presence of anti-neutropil antib... ORPHA:443811
Hepatoportal Sclerosis
Esophageal varix, Recurrent infections, Splenomegaly, Hypersplenism, Abnormality of the hepatic v... ORPHA:64743
Heme Oxygenase 1 Deficiency
Sepsis, Hepatomegaly, Thrombocytosis, Elevated circulating C-reactive protein concentration, Aspl... OMIM:614034
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Recurrent infections, Splenomegaly, Recurre... ORPHA:47612
Thymic Aplasia
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Olig... ORPHA:83471
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Inflammation of the large intestine, Recurrent infections, Splenomegaly, Uveitis, Decreas... OMIM:614700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulcerative colitis OMIM:619398
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... ORPHA:169154
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, B lymphocytopenia, Neutropenia, Leukopenia, Bronchiectasis, Lymphadenitis, Partial absenc... OMIM:618986
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia,... OMIM:308230
Sepsis, Hypoalbuminemia, Nephrotic syndrome, Recurrent infections, Decreased liver function, Rena... ORPHA:79327
Omenn Syndrome
Sepsis, Hepatomegaly, Leukocytosis, Erythroderma, Pneumonia, Nephrotic syndrome, Failure to thriv... ORPHA:39041
Lymphoproliferative Syndrome 2
Sepsis, Hepatomegaly, Ascites, Decreased circulating antibody level, Recurrent infections, EBV en... OMIM:615122
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Polyhydramnios, Abnormal liver parenchyma morphology, Abnormal biliary tr... ORPHA:3032
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Elevated circulating creatine kinase concentration, Hematuria... ORPHA:231111
Eosinophilic Gastroenteritis
Atopic dermatitis, Leukocytosis, Dysphagia, Allergic rhinitis, Hypoalbuminemia, Ascites, Weight l... ORPHA:2070
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Sepsis, Cholangitis, Cholangiocarcinoma, Esophageal va... ORPHA:480520
Bacterial Toxic-Shock Syndrome
Myocarditis, Sepsis, Sinusitis, Fasciitis, Hepatitis, Septic arthritis, Increased circulating mye... ORPHA:36234
Selective Igm Deficiency
Sepsis, Non-infectious meningitis, Recurrent herpes, Neutropenia in presence of anti-neutropil an... ORPHA:331235
Sepsis, Hepatomegaly, Hypergalactosemia, Ascites, Failure to thrive, Cirrhosis, Renal insufficien... ORPHA:352
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Idiopathic Achalasia
Decreased prealbumin level, Dysphagia, Recurrent aspiration pneumonia, Weight loss, Gastroesophag... ORPHA:930
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Hepatomegaly, Leukocytosis, Anemia, Splenomegaly, Hepatos... OMIM:612840
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Failure... OMIM:617475
Myocarditis, Sepsis, Hemolytic-uremic syndrome, Uveitis, Abnormal blood ion concentration, Conjun... ORPHA:810
Chronic Granulomatous Disease
Sinusitis, Sepsis, Eczema, Hepatomegaly, Pyloric stenosis, Malabsorption, Splenomegaly, Otitis me... ORPHA:379
Shwachman-Diamond Syndrome
Sinusitis, Sepsis, Eczema, Pancreatic hypoplasia, Neutropenia, Leukemia, Steatorrhea, Pancytopeni... ORPHA:811
Mucopolysaccharidosis-Plus Syndrome
Sepsis, Neutropenia, Patent ductus arteriosus, Splenomegaly, Recurrent respiratory infections, Ne... OMIM:617303
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Hepatomegaly, Cleft palate, Neutropenia, High palate, Leu... OMIM:612541
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Sepsis, Cholangitis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... ORPHA:183675
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Nephrotic syndrome, Lymphadenitis, Abscess, Recurrent infections, Onychomycosis, Splenome... OMIM:618935
Cyclic Neutropenia
Sinusitis, Sepsis, Peritonitis, Tooth abscess, Periodontitis, Perianal abscess, Otitis media, Rec... ORPHA:2686
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Hyponatremia, Hyperkalemia, Hypospadias, Leukopenia, Anem... OMIM:617053
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creatinine concentration, He... OMIM:614817
Hirschsprung Disease
Sepsis, Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality of the gastro... ORPHA:388
Avian Influenza
Sepsis, Hypoalbuminemia, Infectious encephalitis, Pneumonia, Leukopenia, Elevated circulating cre... ORPHA:454836
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ... OMIM:603471
Angioedema, Hereditary, 3
Facial edema, Pharyngeal edema, Intestinal edema, Angioedema OMIM:610618
Staphylococcal Necrotizing Pneumonia
Sepsis, Leukocytosis, Pneumonia, Leukopenia, Pleural empyema, Neutrophilia, Acute infectious pneu... ORPHA:36238
Immunodeficiency 87 And Autoimmunity
Sepsis, Cleft palate, Increased fecal calprotectin level, Hemolytic anemia, Elevated circulating ... OMIM:619573
Immunodeficiency 66
Defective T cell proliferation, Sepsis, Recurrent skin infections, Pustule OMIM:618847
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Anemia, Malabsorption, Splenomegaly, D... ORPHA:100025
Recurrent infection of the gastrointestinal tract, Failure to thrive in infancy, Fatal liver fail... ORPHA:263501
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Pneumonia, Weight loss, Salmonella osteomyelitis, Anemia, Increased... OMIM:209950
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Recurre... OMIM:209920
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Sepsis, Normocytic anemia, Pneumonia, Normochromic anemia, Elevated circulating creatinine concen... ORPHA:247691
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil an... ORPHA:231154
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, Sepsis, Hepatomegaly, Decreased proportion of class-switched memory ... OMIM:233600
Legionnaires Disease
Myocarditis, Sepsis, Hyponatremia, Pericarditis, Infectious encephalitis, Endocarditis, Hematuria... ORPHA:549
Desmoid Tumor
Sepsis, Hydronephrosis, Desmoid tumors, Malabsorption, Intestinal obstruction, Gastrointestinal h... ORPHA:873
Sepsis In Premature Infants
Hepatomegaly, Leukocytosis, Neutropenia, Small for gestational age, Functional abnormality of the... ORPHA:90051
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Recurrent protozoan infections, Recurrent herpes, Neutropenia in presence... ORPHA:572
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Failure to... OMIM:613501
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Weight loss, Barrett esophagus, Ob... ORPHA:70482
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Failure to thrive, Recurrent otitis media, Recurrent... OMIM:616022
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Increased circulating ferr... OMIM:618963
Refractory Celiac Disease
Inflammatory abnormality of the skin, Macrocytic anemia, Jejunitis, Hypoproteinemia, Normocytic a... ORPHA:398063
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility... OMIM:266265
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Recurrent infections, Anemia, Splenomeg... OMIM:615285
Mantle Cell Lymphoma
Weight loss, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Immunodeficiency 68
Sepsis, B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T... OMIM:612260
Porphyria Cutanea Tarda
Viral hepatitis, Increased serum iron, Abnormal erythrocyte enzyme level, Increased fecal porphyr... ORPHA:101330
Acquired Purpura Fulminans
Sepsis, Skin rash, Hepatic failure, Thrombocytopenia, Elevated circulating C-reactive protein con... ORPHA:49566
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hepatomegaly, Neutropenia, Edema, Anemia, Splenomegaly, Increased circulating fer... OMIM:603552
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Eczematoid dermatitis, Hepatomegaly, Lymphadenitis, Discoid lupus r... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Eczematoid dermatitis, Hepatomegaly, Lymphadenitis, Discoid lupus r... OMIM:233710
Acute Lung Injury
Sepsis, Increased circulating surfactant protein level, Pneumonia, Edema, Acute pancreatitis, Ele... ORPHA:178320
Late-Onset Isolated Acth Deficiency
Sepsis, Macrocytic anemia, Hyponatremia, Normocytic anemia, Hypercalcemia, Celiac disease, Failur... ORPHA:199299
Sepsis, Leukocytosis, Myositis, Recurrent cutaneous abscess formation, Weight loss, Recurrent inf... ORPHA:764
Toxic Epidermal Necrolysis
Sepsis, Dysphagia, Neutropenia, Weight loss, Intestinal perforation, Anemia, Pancreatitis, Malabs... ORPHA:537
Igg4-Related Retroperitoneal Fibrosis
Ureteropelvic junction obstruction, Elevated circulating C-reactive protein concentration, Nephro... ORPHA:49041
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Nephrotic syndrome, Monocytosis, Failure to thrive, Edema, Hemolytic-uremic syndrom... OMIM:619644
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... OMIM:612926
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Neutropenia, Small for gestational age, Peritonitis, Ascites, Edema, ... ORPHA:391673
Bullous Impetigo
Sepsis, Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Hereditary Angioedema Type 1
Tongue edema, Dysphagia, Laryngeal edema, Pharyngeal edema, Intestinal edema, Facial edema, Abnor... ORPHA:100050
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Eczematoid dermatitis, Hepatomegaly, Lymphadenitis, Discoid lupus r... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Eczematoid dermatitis, Hepatomegaly, Lymphadenitis, Discoid lupus r... OMIM:233690
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Psoriasiform dermatitis, Hyponatremia, Recurrent bronchitis, Bronchiectasis, Failure to t... ORPHA:293978
Primary Intestinal Lymphangiectasia
Functional abnormality of the gastrointestinal tract, Decreased circulating antibody level, Reduc... ORPHA:90362
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Hepatomegaly, Pneumonia, Chronic otitis media, Recurrent ... ORPHA:169090
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Failure to thrive, Membranous nephropathy, Recurrent viral... OMIM:618999
Chédiak-Higashi Syndrome
Neutropenia, Abnormal platelet function, Recurrent infections, Splenomegaly, Periodontitis, Incre... ORPHA:167
Neonatal Alloimmune Neutropenia
Sepsis, Neutropenia in presence of anti-neutropil antibodies, Pneumonia, Jaundice ORPHA:464370
Whim Syndrome
Recurrent bacterial infections, Sepsis, Sinusitis, Neutropenia, Abnormality of the small intestin... ORPHA:51636
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Hepatomegaly, Leukocytosis,... ORPHA:77297
Hypospadias, Sepsis, Complete or near-complete absence of specific antibody response to tetanus v... ORPHA:79324
Angioedema, Hereditary, 1
Laryngeal edema, Pharyngeal edema, Intestinal edema, Angioedema OMIM:106100
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Villous atrophy, Failure to thrive, Reduced natural killer cell activity, Anemia... OMIM:616050
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Abnormal gastric mucosa morphology, Helicobacter ... ORPHA:2494
Sinusitis, Sepsis, Cholangitis, Myocarditis, Brain abscess, Hepatitis, Infectious encephalitis, L... ORPHA:2552
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Recurrent infections, Hyperammonemia, Neonatal sepsis, 3-Methylglutaconic acid... OMIM:614739
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulatin... OMIM:274150
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Rhinitis, Weight loss, Anemia, Splenomeg... ORPHA:507
Wiskott-Aldrich Syndrome
Sepsis, Eczema, Inflammation of the large intestine, Impaired lymphocyte transformation with phyt... OMIM:301000
Ebola Hemorrhagic Fever
Sepsis, Dysphagia, Leukopenia, Hepatitis, Melena, Gastrointestinal hemorrhage, Increased circulat... ORPHA:319218
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Failure to thrive, Hypercholesterolemia, Hypoalbuminemia, Protei... OMIM:615863
Stevens-Johnson Syndrome
Sepsis, Dysphagia, Weight loss, Dysuria, Anemia, Pancreatitis, Renal insufficiency, Acute hepatic... ORPHA:36426
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pn... OMIM:601495
Immunodeficiency 50
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... OMIM:300988
Neuroleptic Malignant Syndrome
Hyperkalemia, Sepsis, Thrombocytosis, Leukocytosis, Dysphagia, Hyponatremia, Hypernatremia, Myogl... ORPHA:94093
Rat-Bite Fever
Myocarditis, Sepsis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Weight l... ORPHA:31205
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Dysphagia, Abnormal esophagus physiology, Abnormal large intestine morphology, Esop... ORPHA:2198
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Weight loss, Anemia, Malabsorptio... ORPHA:98850
Pulmonary Blastoma
Weight loss, Recurrent pneumonia ORPHA:64741
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Dehydration, Weight loss, Edema, Abnormal circ... ORPHA:103910
Brain abscess, Sepsis, Abnormality of the spleen, Splenic abscess, Lung abscess, Pneumonia, Prost... ORPHA:31202
Pfapa Syndrome
Hepatomegaly, Infectious encephalitis, Weight loss, Arthritis, Malabsorption, Splenomegaly, Recur... ORPHA:42642
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Weight loss, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... OMIM:619281
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Neutropenia, Anemia, Recurrent infections, Gout, Hyperuricemi... OMIM:617056
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Ascites, Failure to thrive, Anemia, Patent ductus arteriosus, Decreased liver funct... OMIM:608104
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Caroli Disease
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Esophageal varix, ... ORPHA:53035
Leukocyte Adhesion Deficiency
Sinusitis, Sepsis, Recurrent aphthous stomatitis, Hemolytic-uremic syndrome, Recurrent staphyloco... ORPHA:2968
Igg4-Related Aortitis
Hydronephrosis, Weight loss, Increased circulating IgG4 level, Increased inflammatory response, I... ORPHA:449400
Classic Galactosemia
Sepsis, Hepatomegaly, Ascites, Hepatic failure, Elevated hepatic transaminase, Abnormal erythrocy... ORPHA:79239
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Sinusitis, Sepsis, Arthralgia/arthritis, Abnormal jejunum morphology, Pericarditis, Pneumonia, En... ORPHA:449280
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Leukocytosis, Lung abscess, Gastrointestinal dysmotility, Acute coliti... ORPHA:67
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Sepsis, Hyperglycinemia, Hyperalaninemia OMIM:619059
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Sepsis, Heavy proteinuria, Leukopenia, Nephrotic syndrome, Macroglossia, Decreased circulating Ig... ORPHA:505248
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Weight loss, Anemia, Abnormality of the pancreas, Neutrophilia, Elevated hepatic t... ORPHA:54251
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Villous atrophy, Portal fibrosi... OMIM:619377
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive
Sepsis, Recurrent upper respiratory tract infections OMIM:619599
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Episodic hemolytic anemia, Increased blood urea nitrogen, M... ORPHA:251004
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Thrombocytopenia, Acute leukemia, Chronic otitis media, Weight loss, ... ORPHA:3226
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Elevated carcinoembryonic antigen level, Weight loss ORPHA:100083
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Failure to thrive, Cirrhosis, Hepatic failure, H... OMIM:602579
Galactose Epimerase Deficiency
Hepatomegaly, Weight loss, Splenomegaly, Aminoaciduria, Jaundice ORPHA:79238
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Sepsis, Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, High palate... OMIM:619418
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... ORPHA:2442
Meningococcal Meningitis
Sepsis, Infectious encephalitis, Skin rash, Elevated circulating C-reactive protein concentration... ORPHA:33475
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Anuria, Elevated circulating c... OMIM:235400
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Weight loss, ... ORPHA:131
Wiskott-Aldrich Syndrome
Sinusitis, Sepsis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet fu... ORPHA:906
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Recurrent infections, Abnormal dense granules, Giant neutr... OMIM:214500
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Leukocytosis, Pericarditis, Elevated hepatic transaminase, Abnormal ci... ORPHA:829
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Hypocholesterolemia, Hyper... OMIM:607765
Severe Generalized Junctional Epidermolysis Bullosa
Sepsis, Pyoderma, Abnormal blood ion concentration, Urinary retention, Renal cyst, Recurrent urin... ORPHA:79404
Neutropenia, Anemia, Splenomegaly, Recurrent pneumonia, Trimethylaminuria OMIM:602079
Lamellar Ichthyosis
Sepsis, Erythroderma, Chronic otitis media, Renal insufficiency, Recurrent respiratory infections... ORPHA:313
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Pancytopenia, Hepatocellular carcinoma, Abnormal renal... ORPHA:158057
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Protein-losing enteropathy, Hyperglycinemia, Lacticaciduria OMIM:619063
Immunodeficiency 31C
Eczema, Abnormal intestine morphology, Villous atrophy, Chronic mucocutaneous candidiasis, Lympho... OMIM:614162
Eosinophilic Fasciitis
Myositis, Fasciitis, Weight loss, Edema, Arthritis, Abnormal eosinophil morphology, Eosinophilia,... ORPHA:3165
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Leukocytosis, Weight loss, Increased circulating IgE level, Hypereosinophilia,... ORPHA:2902
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Arthritis, Elevated transferrin saturation, Cirrhosis,... OMIM:604250
Isolated Congenital Hypoglossia/Aglossia
Weight loss, Cleft palate, Microglossia, Aspiration pneumonia ORPHA:141152
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Failure to thrive, Anemia, Pancreatitis, Splenomegaly, Hyperammonemia,... ORPHA:79312
Rhabdoid Tumor
Hypercalcemia, Weight loss, Hematuria, Anemia, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Odynophagia, Chronic kidney disease, Pancytopenia, Hemosiderinur... ORPHA:447
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Dysphagia, Gastrointestinal dysmotility, Weight loss, Anemia, Hyperalaninemia, Cirrhosi... ORPHA:298
Sickle Cell Anemia
Abnormality of the spleen, Leukocytosis, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Lassa Fever
Conjunctivitis, Sepsis, Dysphagia, Facial edema, Oliguria, Increased circulating IgM level, Jaundice ORPHA:99824
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, ... ORPHA:85450
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Weight loss, Edema, Acne, Arthritis... ORPHA:324964
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Eosinophilia, Erythroderma, Neutropenia, Villous atrophy, Coombs-positive hemolytic anemi... OMIM:304790
Immunodeficiency 85 And Autoimmunity
Eczema, Failure to thrive in infancy, Erythroderma, Villous atrophy, Decreased circulating IgA le... OMIM:619510
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Micropenis, Acute pancreatitis, Hemolytic anemia, Portal hypertension, Perica... OMIM:619487
Indolent Systemic Mastocytosis
Hepatomegaly, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, In... ORPHA:98848
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Pustule, Weight loss... ORPHA:171876
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Sepsis, Edema of the dorsum of hands, Edema of the dorsum of feet ORPHA:544503
Radiation Proctitis
Sepsis, Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum morp... ORPHA:70475
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Neonatal sepsis, Hypoalbuminemia, Prolonged neonatal ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Neonatal sepsis, Hypoalbuminemia, Prolonged neonatal ... ORPHA:529799
Sepsis, Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Edema, Decreased liver function, Gastrointesti... ORPHA:79319
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent oti... OMIM:613502
Sporadic Creutzfeldt-Jakob Disease
Sepsis, Recurrent infections, Recurrent aspiration pneumonia ORPHA:204
Focal Myositis
Elevated circulating creatine kinase concentration, Weight loss, Myositis ORPHA:48918
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Anemia, Arthritis, Acute hepatitis, Sple... ORPHA:905
Cinca Syndrome
Leukocytosis, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinophilia, Elevated c... OMIM:607115
Inflammatory Pseudotumor Of The Liver
Weight loss, Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating as... ORPHA:90003
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Abnormal intestine morphology, Neutropenia, Edema, Decreased circulating IgG lev... OMIM:600351
Posttransplant Acute Limbic Encephalitis
Sepsis, Hyponatremia ORPHA:163921
Multicentric Reticulohistiocytosis
Cachexia, Arthritis, Histiocytosis ORPHA:139436
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Hepatic cysts, Biliary tr... ORPHA:400
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hyperbiliru... OMIM:214950
Myocarditis, Sepsis, Brain abscess, Septic arthritis, Granulomatosis, Jaundice, Liver abscess, Co... ORPHA:533
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Sepsis, Failure to thrive, Decreased circulating antibody level, Anemia, Recurrent infections, Re... ORPHA:79396
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Autoimmune ... OMIM:614470
Dopamine Beta-Hydroxylase Deficiency
Rhinitis, Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen, E... ORPHA:230
Netherton Syndrome
Abnormal intestine morphology, Allergic rhinitis, Erythroderma, Villous atrophy, Angioedema, Fail... OMIM:256500
Mast Cell Sarcoma
Hepatomegaly, Mastocytosis, Weight loss, Splenomegaly ORPHA:66661
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hy... OMIM:601847
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Sepsis, Megacystis, Intestinal malrotation, Polyhydramnios, Multicystic kidney dysplasia, Hypoper... ORPHA:2241
Psoriasis 14, Pustular
Geographic tongue, Cholangitis, Leukocytosis, Psoriasiform dermatitis, Pustule, Oligoarthritis, F... OMIM:614204
Poikiloderma With Neutropenia
Neutropenia, Elevated circulating creatine kinase concentration, Recurrent otitis media, Splenome... OMIM:604173
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Infectious encephalitis, Neutropenia, Pancytopenia, Reduced natural killer cell act... OMIM:308240
Wolcott-Rallison Syndrome
Hepatomegaly, Hyponatremia, Neutropenia, Ascites, Iron deficiency anemia, Chronic kidney disease,... ORPHA:1667
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... ORPHA:139402
Holocarboxylase Synthetase Deficiency
Eczema, Perioral eczema, Weight loss, Hyperammonemia, Thrombocytopenia, Keratoconjunctivitis, Org... ORPHA:79242
Wolman Disease
Hepatomegaly, Cachexia, Esophageal varix, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly, ... ORPHA:75233
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism, Elevated circula... ORPHA:1304
Adult Acute Respiratory Distress Syndrome
Sepsis, Pulmonary edema, Pancreatitis, Pneumonia ORPHA:70578
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, Hepatosplenomegaly, Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemoly... OMIM:606367
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Gastrointestinal dysmotility, Weight loss, Slender build, Malabsorption OMIM:613662
Uremic Pruritus
Inflammatory abnormality of the skin, Hypercalcemia, Chronic kidney disease, Stage 5 chronic kidn... ORPHA:94059
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Eosinophilia, Elevated circulating C-reacti... ORPHA:449395
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Elevated circula... OMIM:611762
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Macroglossia, Failure to thrive, Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholest... ORPHA:79320
Kaposi Sarcoma
Abnormality of the spleen, Recurrent herpes, Weight loss, Abnormality of the liver, Skin rash, Ab... ORPHA:33276
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Cockayne Syndrome Type 1
Hepatomegaly, Failure to thrive, Anemia, Uveitis, Increased blood urea nitrogen, Elevated hepatic... ORPHA:90321
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Hepatitis, Anemia, Splenomegaly, Increased inflammatory response, Decr... ORPHA:158061
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Increas... OMIM:617099
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Hematuria, Anemia, Incre... ORPHA:91547
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... ORPHA:228302
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Abnormal renal physiology, Decreased circulating antibody level, Splenomegaly, Incre... ORPHA:540
Currarino Syndrome
Gastrointestinal obstruction, Sepsis, Horseshoe kidney, Rectovaginal fistula, Anal atresia, Recur... OMIM:176450
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Immunodeficiency 92
Cholangitis, Hepatomegaly, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switche... OMIM:619652
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... OMIM:223900
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, C... ORPHA:98849
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Hypomagnese... OMIM:175500
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pericarditis, Weight loss, Pancreatitis, Renal insufficiency, Oliguria... ORPHA:188
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Sepsis, Hydronephrosis, Megacystis, Polyhydramnios, Hydroureter, Microcolon OMIM:619362
Brain abscess, Sepsis, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Lymphadeni... ORPHA:31204
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Failure to thrive, Hepatitis, Decreased... OMIM:614602
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Mala... ORPHA:2930
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasi... OMIM:211600
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Failure to thrive in infancy, Increased circulating IgD l... OMIM:610377
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Weight loss, Cholelithiasis, Pancreatitis, Cholestatic ... ORPHA:65682
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... OMIM:143880
Autoinflammatory Syndrome, Familial, Behcet-Like
Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis OMIM:616744
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... ORPHA:171
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Aminoaciduria OMIM:612075
Hepatocellular Carcinoma
Esophageal varix, Hemobilia, Abnormality of the hepatic vasculature, Portal hypertension, Jaundic... ORPHA:88673
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hyperhomocystinemia, Cleft palate, Neutropenia, Methylmalonic aciduria, Stomatitis, Failure to th... ORPHA:79284
Congenital Tufting Enteropathy
Villous atrophy, Failure to thrive, Weight loss, Arthritis, Punctate keratitis, Cholestatic liver... ORPHA:92050
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Hypernatremia, Hepatitis, Recurrent infections, Splenomegaly, Gastritis, Crohn's ... OMIM:619381
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Myocarditis, Fasciitis, Abnormal stomach morphology, Uveitis, Intestinal bleeding, Chronic kidney... ORPHA:801
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Infant Acute Respiratory Distress Syndrome
Sepsis, Pulmonary edema, Pneumonia ORPHA:70587
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Failure to thrive, Recurrent infections, Malabsorption, Thrombocytopenia... OMIM:229050
Weight loss ORPHA:3389
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Villous atrophy, Arthritis, Small for gestational age OMIM:613217
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Hydronephrosis, Increased mean platelet volume, Intestinal pseudo-obstruction, ... OMIM:300048
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, High, narrow palate, Tubulointerstit... ORPHA:228308
Kid Syndrome
Keratoconjunctivitis sicca, Sepsis, Psoriasiform dermatitis, Neoplasm of the tongue, Folliculitis... ORPHA:477
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... ORPHA:79302
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Esophageal varix, Fatal liver failure in infancy, Bone-marrow f... ORPHA:275761
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Moderate albuminuria, Sepsis, Neutropenia, Oral-pharyngeal dysphagia, Conjunctivitis, Inflammator... ORPHA:95455
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Ane... OMIM:251110
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Cryptogenic Organizing Pneumonia
Leukocytosis, Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia ORPHA:1302
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:86893
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Diffuse Alveolar Hemorrhage
Leukocytosis, Weight loss, Elevated circulating creatinine concentration, Anemia, Hematuria, Thro... ORPHA:90060
Follicular Lymphoma
Weight loss, Abnormality of the peritoneum, Splenomegaly, Pleural effusion, Lymphedema ORPHA:545
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Al Amyloidosis
Abnormal salivary gland morphology, Hepatomegaly, Dysphagia, Hypoalbuminemia, Nephrotic syndrome,... ORPHA:85443
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Predominantly dermal neutrophilic infiltrate, Inflammat... ORPHA:3243
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Weight loss, Abnormality of the peritoneum, Intesti... ORPHA:26790
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Failure to thrive in infancy, Pustule, Stomatitis, Abscess, Splenomegaly, Osteomyel... OMIM:612852
Central Diabetes Insipidus
Hyponatremia, Failure to thrive, Weight loss, Dehydration, Nocturia ORPHA:178029
Muckle-Wells Syndrome
Leukocytosis, Maculopapular exanthema, Recurrent aphthous stomatitis, Elevated circulating C-reac... OMIM:191900
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Arthritis, Uveitis, Skin rash, Elevated circulating C-reactive protein concentratio... OMIM:120100
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Small for gestational age, Hyperlipidemia, Abnor... ORPHA:567983
Sepsis, Pneumonia, Prostatitis, Peritonitis, Lymphoid leukemia, Osteomyelitis, Cirrhosis, Cerebra... ORPHA:1546
Castleman Disease
Ureteral obstruction, Weight loss, Anasarca, Anemia, Hematuria, Intestinal obstruction, Abnormali... ORPHA:160
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria... ORPHA:42
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Leukocytosis, Thrombocytosis, Ketonuria, Leukopenia, Lipid accumulation in hepatocy... ORPHA:20
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Functional abnormality of the gastrointestin... ORPHA:29073
Chylomicron Retention Disease
Failure to thrive, Acanthocytosis, Hypocholesterolemia, Increased hepatocellular lipid droplets, ... ORPHA:71
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Oliguria, Lymphocytosis, Acute monocytic l... ORPHA:514
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Pericarditis, Nephrotic syndrome, Peritonitis, Elevated circulating a... OMIM:249100
Tubulointerstitial nephritis, Parotitis, Uveitis, Enlargement of parotid gland, Maculopapular exa... ORPHA:797
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Spl... ORPHA:731
Transcobalamin Deficiency
Neutropenia, Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG l... ORPHA:859
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Thrombocytosis, Weight loss, Edema, Hyperammonemia, Hyperuricemia, De... ORPHA:134
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Cachexia, Ascites, Weight loss, Anemia, Neoplasm of the pancreas, Abnormality of th... ORPHA:83469
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Weig... ORPHA:465508
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Tub... ORPHA:157
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Hyponatremia, Rectal prolapse, Unconjugated hyperbilirubinemia, Schistocytosis, Mic... ORPHA:90038
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... OMIM:606843
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Ane... OMIM:251100
Cinca Syndrome
Hepatomegaly, Leukocytosis, Retrobulbar optic neuritis, Edema, Anemia, Abnormal granulocyte morph... ORPHA:1451
Postinfectious Vasculitis
Recurrent candida infections, Elevated circulating C-reactive protein concentration, Inflammatory... ORPHA:48435
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehy... OMIM:300908
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Weight loss, Crohn's disease, Intestinal obstruction, Recurr... OMIM:266600
Propionic Acidemia
Hepatomegaly, Eczema, Neutropenia, Failure to thrive, Anemia, Pancreatitis, Hyperglycinemia, Hype... OMIM:606054
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Chronic oral candidiasis,... OMIM:150550
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Medullary Thyroid Carcinoma
Weight loss, Dysphagia, Abnormal liver parenchyma morphology ORPHA:1332
Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:98293
Glycogen Storage Disease Ib
Recurrent bacterial infections, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, He... OMIM:232220
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss, Increased circulating antibody level ORPHA:411593
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hyperhomocystinemia, High palate, Neutropenia, Methylmalonic acidemia, Cystathioninuria, Stomatit... OMIM:277380
Beta-Thalassemia Intermedia
Hepatomegaly, Leukocytosis, Abnormality of iron homeostasis, Elevated hepatic iron concentration,... ORPHA:231222
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormality of the peritoneum ORPHA:2023
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Dysphagia, Tubulointerstitial nephritis, Endocarditis, Myositis, Weight l... ORPHA:183
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Failure to thrive, Weight loss, Anemia, Patent ductus arteriosus, Recurrent respira... ORPHA:1842
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia, Allergic rhinitis, Conjunctivitis ORPHA:26137
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Pancytopenia, Thrombocytopenia, Small for gestational age, Failure to ... OMIM:260400
Hypercholanemia, Familial 1
Failure to thrive, Increased serum bile acid concentration, Steatorrhea, Fat malabsorption OMIM:607748
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Eczema, Macrocytic anemia, Celiac disease, Stomatitis, Iron deficiency anemia, Fa... OMIM:212750
Polyarteritis Nodosa
Weight loss, Elevated circulating C-reactive protein concentration, Pericarditis, Abnormality of ... ORPHA:767
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Abnormality of body weight, Pneumonia, Leukopenia, Abnormal c... ORPHA:2298
Visceral Myopathy 2
Dysphagia, Megaduodenum, Rectal prolapse, Intestinal pseudo-obstruction, Megacystis, Esophagitis,... OMIM:619350
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Thrombocytosis, Cachexia, Anemia, Splenomegaly, Hepatosplenomegaly, P... ORPHA:824
Alveolar Echinococcosis
Cholangitis, Eosinophilia, Pancreatic cysts, Abnormality of mesentery morphology, Pedal edema, He... ORPHA:284
Q Fever
Myocarditis, Hepatitis, Splenomegaly, Hepatosplenomegaly, Maculopapular exanthema, Infectious enc... ORPHA:781
Immunodeficiency 23
Eczema, Allergic rhinitis, Neutropenia, Eosinophilia, High palate, Bronchiectasis, Failure to thr... OMIM:615816
Congenital Short Bowel Syndrome
Failure to thrive, Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrota... OMIM:615237
Interstitial pneumonitis, Chronic oral candidiasis, Weight loss, Increased circulating antibody l... ORPHA:723
Whipple Disease
Myocarditis, Hepatomegaly, Cachexia, Hyponatremia, Infectious encephalitis, Pericarditis, Myositi... ORPHA:3452
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, Abnormal intestine morphology, Recurrent herpes, Neutropenia in presence of anti-neutropi... ORPHA:391487
Imbalanced hemoglobin synthesis, Myositis, Leukemia, Neoplasm of the gastrointestinal tract, Weig... ORPHA:99867
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypoproteinemia, Cleft palate, High palate, Hydronephrosis, Ascites, Polyhydramnios... OMIM:235255
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Neutropenia, Dysphagia, Failure to thrive, Decreased... OMIM:608809
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss, Bronchiectasis ORPHA:1164
Systemic Sclerosis
Myocarditis, Abnormal stomach morphology, Intestinal bleeding, Chronic kidney disease, Barrett es... ORPHA:90291
Juvenile Polyposis Of Infancy
High, narrow palate, Cachexia, Rectal prolapse, Adenomatous colonic polyposis, Refractory anemia,... ORPHA:79076
Chronic Hiccup
Weight loss, Dehydration ORPHA:396
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Cleft palate, High palate, Asplenia, Intestinal malrotation, Po... ORPHA:99776
Syndromic Diarrhea
Hepatomegaly, Thrombocytosis, Increased mean platelet volume, Villous atrophy, Hepatic fibrosis, ... ORPHA:84064
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Weigh... OMIM:617321
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Pericardial effusion, Ascites, Anasarca, Decreased circulating antibody level, Poly... OMIM:618183
Malignant Peritoneal Mesothelioma
Ascites, Peritonitis, Weight loss, Pedal edema, Ileus ORPHA:168811
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Failure to thrive, Weight loss, Hematuria, Nephrolithiasis, Renal i... ORPHA:35710
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Pericarditis, Monoclonal elevation of circulating IgA, Nephrotic synd... ORPHA:91139
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Anemia, Increased circulating ferritin concentration, Acute kidney i... OMIM:618886
Granulomatosis With Polyangiitis
Sinusitis, Chronic otitis media, Gastrointestinal hemorrhage, Granulomatosis, Recurrent respirato... ORPHA:900
Trichohepatoenteric Syndrome 1
Hypospadias, Hypermethioninemia, Jaundice, Increased mean platelet volume, Villous atrophy, Hepat... OMIM:222470
Takayasu Arteritis
Gastrointestinal infarctions, Weight loss, Anemia, Arthritis, Increased inflammatory response, In... ORPHA:3287
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Pneumonia, Failure to thrive, Neonatal sepsis, Jaundice ORPHA:90790
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Mucopolysacchariduria, Small for gestational age, Macroglossia, Sple... OMIM:618440
Pleural Mesothelioma
Hepatomegaly, Weight loss, Pleural effusion, Dysphagia ORPHA:50251
Oculopharyngodistal Myopathy
High, narrow palate, High palate, Recurrent aspiration pneumonia, Weight loss, Impaired oropharyn... ORPHA:98897
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal circulating... ORPHA:86839
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Eczema, Esophageal varix, Decreased circulating antibody level, Recurrent infections, Splenomegal... OMIM:615688
Ectodermal Dysplasia-Skin Fragility Syndrome
Sepsis, Cheilitis, Chapped lip, Failure to thrive, Recurrent skin infections, Recurrent pneumonia... ORPHA:158668
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Bone marrow hypocellularity, Elevated alpha-fetoprotein, Thrombocytopenia OMIM:617243
Sepsis, Hepatomegaly, Inflammation of the large intestine, Endocarditis, Lymphadenitis, Chapped l... ORPHA:707
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia, Abnormality of mesentery morphology, Tracheoesophageal fistu... ORPHA:93941
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Failure to thrive, Nephrocalcinosis, Hematuria, Decreased glomerular f... ORPHA:93598
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Cachexia, Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Stomatitis, Weight loss, Hematuria, Anemia, Pancytopenia, ... ORPHA:520
Herpes Simplex Virus Encephalitis
Leukocytosis, Hyponatremia, Neutrophilia, Cerebral edema, Elevated circulating C-reactive protein... ORPHA:1930
Endove Syndrome, Limb-Only Type
Hydronephrosis, Neonatal sepsis, Vesicoureteral reflux OMIM:619217
Menkes Disease
Sepsis, Malabsorption, Osteomyelitis, Gastrointestinal hemorrhage, Prolonged neonatal jaundice, B... ORPHA:565
Pancreatic Lipase Deficiency
Hypolipidemia, Steatorrhea, Fat malabsorption OMIM:614338
Peripheral Primitive Neuroectodermal Tumor
Ascites, Weight loss, Anemia, Neoplasm of the pancreas, Pancreatitis, Elevated carcinoma antigen ... ORPHA:370348
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Esophagitis, Duodenitis, Gastritis, Pancolitis, Protein-losing ent... OMIM:619079
Rheumatoid Arthritis
Weight loss, Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Joint s... OMIM:180300
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Villous atrophy, Pustule, Failure to thrive, Duodenitis, Increased circulating IgE ... OMIM:614328
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Weight loss, Panniculitis, Edema, Splenomegaly, Inflammatory abnormality of the eye ORPHA:33577
Diarrhea 9
Failure to thrive, Villous atrophy OMIM:618168
Classic Hodgkin Lymphoma
Hepatomegaly, Weight loss, Bone marrow hypocellularity, Splenomegaly, Skin rash ORPHA:391
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dysphagia, Esophageal neoplasm, Morphological abnormality of the gastrointestinal tract, Failure ... ORPHA:1018
Huntington Disease-Like 2
Weight loss ORPHA:98934
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Pustule, Neutropenia, Leukopenia, Weight loss, Anemia, Splenomegaly, M... ORPHA:50918
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Hepatomegaly, Hypercalcemia, Acute leukemia, Angioedema, Chronic leukemia, Splenomegaly, Gastroin... ORPHA:98292
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Tubulointerstitial nephritis, Normochromic anemia, Decreased glomerular filtr... ORPHA:91500
Hepatomegaly, Pericarditis, Elevated circulating creatine kinase concentration, Weight loss, Arth... ORPHA:732
Diencephalic Syndrome
Cachexia, Decreased body weight, Long penis ORPHA:1672
Wild Type Attr Amyloidosis
Hepatomegaly, Nephrotic syndrome, Gastrointestinal dysmotility, Weight loss, Renal insufficiency,... ORPHA:330001
Hereditary Chronic Pancreatitis
Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Elevated circulating C-reactive p... ORPHA:676
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Peritoneal abscess, Functional intestinal obstruction, Weight loss... ORPHA:1333
Cystic renal dysplasia, Cleft palate, Abnormal liver lobulation, Increased nuchal translucency, O... OMIM:608022
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea OMIM:618752
Diarrhea 2, With Microvillus Atrophy
Abnormal intestine morphology, Villous atrophy, Dehydration OMIM:251850
Hepatomegaly, Abnormal gastrointestinal motility, Hypercalcemia, Ascites, Stomatitis, Acanthocyto... ORPHA:97280
Solitary Fibrous Tumor/Hemangiopericytoma
Urinary retention, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Reduced C-p... ORPHA:2126
Maternal Uniparental Disomy Of Chromosome 4
Acanthocytosis, Elevated circulating creatine kinase concentration, Hypocholesterolemia, Abetalip... ORPHA:96180
Hemophagocytic Syndrome Associated With An Infection
Abnormal inflammatory response, Hepatomegaly, Hyperproteinemia, Neutropenia, Pancytopenia, Anemia... ORPHA:158048
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Hypoproteinemia, High palate, Hydronephrosis, Ascites, Polyhydramnios, Splenomegaly... ORPHA:1655
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Cholestasis, Elevated hepatic transaminase, Biliary tract abnormality, ... ORPHA:79168
Focal Facial Dermal Dysplasia Type Iv
Cleft palate, Abnormal mast cell morphology ORPHA:398189
Hepatomegaly, Abnormal gastrointestinal motility, Hypercalcemia, Benign gastrointestinal tract tu... ORPHA:97282
Goodpasture Syndrome
Macroscopic hematuria, Weight loss, Anemia, Cylindruria, Increased blood urea nitrogen, Erythrocy... OMIM:233450
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hepatosplenomegaly, Panniculitis, Hemophagocytosis ORPHA:86884
Diarrhea 12, With Microvillus Atrophy
Microvillus inclusions, Villous atrophy, Microvillar PAS-positive secretory granules, Bronchiectasis OMIM:619445
Ileal Neuroendocrine Tumor
Gastrointestinal obstruction, Hydronephrosis, Small intestine carcinoid, Iron deficiency anemia, ... ORPHA:100078
Jejunal Neuroendocrine Tumor
Gastrointestinal obstruction, Hydronephrosis, Small intestine carcinoid, Iron deficiency anemia, ... ORPHA:100077
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hyperlipidemia, Increased hepatic glycogen content, Tubuloin... ORPHA:79259
Acanthocytosis, Abetalipoproteinemia, Fat malabsorption OMIM:200100
Hepatomegaly, Hypercalcemia, Hypochromic microcytic anemia, Ascites, Gallbladder dysfunction, Wei... ORPHA:97283
Inflammatory Bowel Disease 11
Weight loss, Inflammation of the large intestine, Hematochezia OMIM:191390
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Pericarditis, Peritonitis, Myositis, Fasciitis, Arthritis, Splenomegaly, Intestinal... ORPHA:32960
Xfe Progeroid Syndrome
Cachexia, Ascites, Elevated hepatic transaminase, Proteinuria, Renal insufficiency OMIM:610965
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Malabsorption, Intesti... OMIM:615710
Hyper-Igd Syndrome
Leukocytosis, Lymphadenitis, Increased circulating IgA level, Chronic oral candidiasis, Recurrent... OMIM:260920
Acute Adrenal Insufficiency
Hyperkalemia, Hyponatremia, Hypercalcemia, Normocytic anemia, Recurrent acute respiratory tract i... ORPHA:95409
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Gastrointestinal hemor... OMIM:263300
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... ORPHA:103907
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Failure to thrive, Hyperechogenic pancreas, Abn... ORPHA:456312
Juvenile Polyposis Syndrome
Brain abscess, Neoplasm of the small intestine, Intussusception, Gastrointestinal hemorrhage, Sma... ORPHA:2929
Addison Disease
Hyperkalemia, Hyponatremia, Hypercalcemia, Normocytic anemia, Celiac disease, Failure to thrive, ... ORPHA:85138
Pancreatic Colipase Deficiency
Megaloblastic anemia, Cholelithiasis, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabso... ORPHA:309108
Lujo Hemorrhagic Fever
Myocarditis, Leukocytosis, Dysphagia, Leukopenia, Rhinitis, Fulminant hepatitis, Odynophagia, Fac... ORPHA:319213
Ctcf-Related Neurodevelopmental Disorder
Sepsis, Cleft palate, Small for gestational age, Failure to thrive, Phimosis, Recurrent infection... ORPHA:363611
Familial Colorectal Cancer Type X
Abnormal circulating creatine concentration, Neoplasm of the rectum, Stomach cancer, Hepatocellul... ORPHA:440437
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Hematuria, Weight loss, Elevated urinary norepinephr... ORPHA:94080
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia, Dysphagia OMIM:618093
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss, Recurrent infections ORPHA:703
Huntington Disease
Oral-pharyngeal dysphagia, Decreased body mass index, Weight loss, Abnormal circulating cholester... ORPHA:399
Keratoconjunctivitis sicca, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibros... ORPHA:14
Riddle Syndrome
Pneumonia, Decreased circulating IgA level, Recurrent viral infections, Chronic sinusitis, Weight... ORPHA:420741
Cap Polyposis
Colorectal polyposis, Weight loss, Hematochezia, Atrophic gastritis ORPHA:160148
Erythrokeratodermia Variabilis
Weight loss, Skin rash ORPHA:317
Ring Chromosome 10 Syndrome
Cachexia, Aganglionic megacolon, Hypocalcemia ORPHA:1438
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Leukocytosis, Abnormal isohemagglutinin level, Small for gestational age, Failure t... ORPHA:99843
Trigonocephaly 1
Meckel diverticulum, Long penis OMIM:190440
Neuroblastoma, Susceptibility To, 1
Elevated urinary vanillylmandelic acid, Failure to thrive, Weight loss, Anemia, Elevated urinary ... OMIM:256700
Isaac Syndrome
Weight loss ORPHA:84142
Chronic Beryllium Disease
Weight loss, Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-positive T cells ORPHA:133
Shwachman-Diamond Syndrome 2
Hepatomegaly, High palate, Neutropenia, Normocytic anemia, Thrombocytopenia, Failure to thrive, H... OMIM:617941
Pearson Syndrome
Neutropenia, Lacticaciduria, Hypophosphatemia, Splenomegaly, Steatorrhea, Pancytopenia, Hydrops f... ORPHA:699
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Hypokalemia, Increased urinary pot... ORPHA:3337
Idiopathic Bronchiectasis
Cachexia, Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent Haemophilus inf... ORPHA:60033
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Horseshoe kidney, Rectal prolapse, Hydronephrosis, Pericardial effusion, Intesti... OMIM:235510
Gm1 Gangliosidosis
Dysphagia, Infectious encephalitis, Failure to thrive, Macroglossia, Weight loss, Hydrops fetalis... ORPHA:354
Inhalational Anthrax
Sepsis ORPHA:247257
Pemphigus Vulgaris
Weight loss, Recurrent infections, Recurrent cutaneous abscess formation ORPHA:704
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Leukocytosis, Osteomyelitis, Periodontitis, Recurrent staphylococ... OMIM:116920
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Gastrointestinal dysmotility, Weight loss, Slender build, Intestinal perforation, Malab... OMIM:603041
Renpenning Syndrome
Hypospadias, High, narrow palate, Cachexia, Cleft palate, Anal atresia ORPHA:3242
Attrv30M Amyloidosis
Abnormal renal physiology, Weight loss, Nephropathy ORPHA:85447
Sickle Cell Anemia
Recurrent bacterial infections, Hepatomegaly, Leukocytosis, Hematuria, Cholelithiasis, Splenomega... OMIM:603903
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Oculogastrointestinal Muscular Dystrophy
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophage... ORPHA:1876
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Weight loss, Cachexia, Hyperlipoproteinemia ORPHA:1979
Urachal Cyst
Leukocytosis, Pyuria, Peritonitis, Abscess, Hematuria, Dysuria, Elevated circulating C-reactive p... ORPHA:488
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Odynophagia, Hyperammonemia, Uveitis, Maculopapular exanth... ORPHA:99826
Hematuria, Weight loss, Neoplasm of the liver ORPHA:654
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Brain abscess, Septic arthritis, Pleural empyema, Intussusception, Hemolytic anemia,... ORPHA:544482
Hepatomegaly, Hypercalcemia, Ascites, Weight loss, Neoplasm of the pancreas, Cholelithiasis, Neop... ORPHA:97278
Yellow Fever
Leukocytosis, Elevated circulating creatine kinase concentration, Anuria, Elevated circulating cr... ORPHA:99829
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Juvenile Dermatomyositis
Dysphagia, Calcinosis, Pericarditis, Myositis, Elevated circulating creatine kinase concentration... ORPHA:93672
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of th... ORPHA:2470
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Eczema, Portal fibrosis, Angioedema, Splenomegaly, Hepatosplenomegaly, Eosinophilia,... ORPHA:3260
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Synovitis, Hip osteoarthritis, Oligoarthritis, Knee osteoarthritis, Weight loss, Anemia, Arthriti... ORPHA:85408
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Huntington Disease-Like 2
Weight loss OMIM:606438
Zollinger-Ellison Syndrome
Duodenal ulcer, Hypercalcemia, Increased urinary cortisol level, Peptic ulcer, Weight loss, Esoph... ORPHA:913
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Hepatomegaly, Eczema, Bronchiectasis, Failure to thrive, Weight loss,... ORPHA:79128
Mungan Syndrome
Renal hypoplasia, Megaduodenum, Intestinal pseudo-obstruction, Hypoperistalsis, Vesicoureteral re... OMIM:611376
Aredyld Syndrome
Hepatomegaly, Cachexia, Abnormality of the ureter, Splenomegaly ORPHA:1133
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Peritonitis, Weight loss, Intestinal perforation, Intestinal fistul... ORPHA:679
Loeffler Endocarditis
Weight loss, Eosinophilia, Pericarditis ORPHA:75566
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Edema, Polyhydramnios, Facial edema, Protein-losing enteropathy, Lymphedema OMIM:618154
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Weight loss, Hematuria, Glomerular sclerosis, Elevat... ORPHA:276621
Parathyroid Carcinoma
Hypercalcemia, Dysphagia, Nephrocalcinosis, Weight loss, Pancreatic adenocarcinoma, Hypophosphate... ORPHA:143
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Hypospadias, Aganglionic megacolon, High palate, Failure t... OMIM:601095
Behçet Disease
Keratoconjunctivitis sicca, Infectious encephalitis, Pericarditis, Endocarditis, Retrobulbar opti... ORPHA:117
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive, Weight loss, Recurrent infections, Recurrent urina... ORPHA:361
Sinusitis, Myocarditis, Brain abscess, Colon perforation, Neutropenia, Fasciitis, Hepatitis, Mele... ORPHA:73263
Ventilator-Induced Diaphragmatic Dysfunction
Sepsis ORPHA:505395
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular dysfunction, Decreased urine output, Hematuria, Gastritis, Renal tubu... ORPHA:31826
Hepatomegaly, Hypercalcemia, Ascites, Weight loss, Neoplasm of the pancreas, Cholelithiasis, Neop... ORPHA:97261
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Weight loss, Hypercalcemia, Calcium nephrolithiasis ORPHA:97289
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Ureteral duplication, Neutropenia, Bronchiectasis, Anemia, Recurrent infections, Bifid ureter, Ac... OMIM:601347
X-Linked Creatine Transporter Deficiency
Abnormal circulating creatine concentration, Cachexia, Aganglionic megacolon, Ileus ORPHA:52503
Christianson Syndrome
Cachexia, Gastroesophageal reflux, Dysphagia ORPHA:85278
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Weight loss, Extrahepatic cholestasis, Jaundice ORPHA:99978
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Pulmonary edema, Chro... ORPHA:340
Moynahan Syndrome
Cachexia ORPHA:2574
Microvillus Inclusion Disease
Villous atrophy, Nephrocalcinosis, Abnormal renal physiology, Abnormality of small intestinal vil... ORPHA:2290
Crimean-Congo Hemorrhagic Fever
Myocarditis, Melena, Parotitis, Splenomegaly, Acute pancreatitis, Pancytopenia, Morbilliform rash... ORPHA:99827
Erdheim-Chester Disease
Hydronephrosis, Weight loss, Retroperitoneal fibrosis, Anemia, Dysuria, Osteomyelitis, Renal insu... ORPHA:35687
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Failure to thrive, Increased circul... OMIM:618213
Colchicine Poisoning
Myocarditis, Leukocytosis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Renal ins... ORPHA:31824
Thymic Carcinoma
Palpebral edema, Weight loss, Edema ORPHA:99868
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Hypoplastic colon, Hepatic fibrosis, Ascites, Enlarged kidn... OMIM:200995
Sarcoidosis, Susceptibility To, 1