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Gene: Bcr MGI:88141

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Distal 22Q11.2 Microdeletion Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, High, narrow palate, Pylori... ORPHA:261330
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Sepsis, D... ORPHA:33355
Secondary Intestinal Lymphangiectasia
Edema, Lymphedema, Intestinal bleeding, Hypoalbuminemia, Hypocholesterolemia, Constrictive perica... ORPHA:90363
Immunodeficiency 102
Sepsis, Leukopenia, Decreased circulating IgG level, Hepatomegaly, Partial absence of specific an... OMIM:301082
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia,... OMIM:226990
Immunodeficiency 46
Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Seps... OMIM:616740
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Thromb... ORPHA:47
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Sepsis, Hyperammonemia, Renal tubular dysfun... ORPHA:289916
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... OMIM:267500
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... ORPHA:247353
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Sepsis, Tubulointerstitial nephritis, Iron deficiency... ORPHA:37042
Galactose Mutarotase Deficiency
Hepatomegaly, Sepsis, Cholestasis, Hypergalactosemia, Decreased liver function, Failure to thrive ORPHA:570422
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, M... ORPHA:292
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Bronchiect... OMIM:620321
Hepatoportal Sclerosis
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei... ORPHA:64743
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He... OMIM:616100
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, Increased circulating IgG... ORPHA:443811
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... ORPHA:276
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc... OMIM:614034
Netherton Syndrome
Hypernatremic dehydration, Recurrent respiratory infections, Villous atrophy, Failure to thrive, ... OMIM:256500
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... ORPHA:47612
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Alg1-Cdg
Abnormality of the gastrointestinal tract, Renal insufficiency, Sepsis, Recurrent infections, Nep... ORPHA:79327
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Inc... OMIM:617872
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... OMIM:614700
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Polyhydramnios, Abnormality of the pancreas... ORPHA:3032
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Elevated circulating C-reactive protein concentration OMIM:619398
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, R... OMIM:618986
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia... OMIM:308230
Omenn Syndrome
Hepatomegaly, Failure to thrive, Pneumonia, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Thyr... ORPHA:39041
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Elevated circulating C-reactive pro... ORPHA:2070
Idiopathic Achalasia
Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level, Recurrent aspiration... ORPHA:930
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... OMIM:614868
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Sepsis, Abnormal intrahepatic bile duc... ORPHA:480520
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Edema, Increa... ORPHA:36234
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Neonatal Alloimmune Neutropenia
Jaundice, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Pneumonia ORPHA:464370
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... OMIM:617475
Shigellosis
Intestinal perforation, Abnormal blood ion concentration, Uveitis, Dehydration, Paralytic ileus, ... ORPHA:810
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Selective Igm Deficiency
Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent... ORPHA:331235
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... ORPHA:811
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ... ORPHA:379
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Anal fissure, Perianal abscess, Lymphadeni... OMIM:618935
Mucopolysaccharidosis-Plus Syndrome
Sepsis, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Neutropenia, Nephritis, He... OMIM:617303
Avian Influenza
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:454836
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Thrombocytopenia, Esophageal stric... OMIM:617053
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Recurren... ORPHA:2686
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy... ORPHA:388
Cog4-Cdg
Elevated hepatic transaminase, Neonatal sepsis, Fatal liver failure in infancy, Failure to thrive... ORPHA:263501
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... OMIM:614817
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Dysgammaglobulinemia, Malabsorption, Splenomeg... ORPHA:100025
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... OMIM:613845
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... OMIM:300755
Angioedema, Hereditary, 3
Facial edema, Angioedema, Intestinal edema, Pharyngeal edema OMIM:610618
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegal... OMIM:612541
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Sepsis, Cholecystitis, Decreased circulating IgG l... ORPHA:183675
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Recur... OMIM:619573
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... OMIM:266265
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Sep... ORPHA:36238
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections, Sepsis OMIM:618847
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, In... OMIM:602450
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weigh... OMIM:209950
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Proteinuria, Nodular regene... ORPHA:247691
Sepsis In Premature Infants
Neonatal sepsis, Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein... ORPHA:90051
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Sepsis,... ORPHA:873
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections,... OMIM:615285
Legionnaires Disease
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice... ORPHA:549
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Macrocyti... ORPHA:398063
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... OMIM:616022
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis... OMIM:618963
Acquired Purpura Fulminans
Skin rash, Elevated circulating C-reactive protein concentration, Sepsis, Hepatic failure, Thromb... ORPHA:49566
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... OMIM:612260
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... OMIM:233710
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Renal insuffic... ORPHA:537
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Celiac disease, ... ORPHA:199299
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Weight loss ORPHA:52416
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Pedal edema, Hashimoto ... ORPHA:49041
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Recurrent bacterial ... ORPHA:101330
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Edema, Increased circulating ferritin concentratio... OMIM:603552
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Abnormal small intestinal villus morphology, Hypoalbuminemia, Hypocal... ORPHA:90362
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis media, Recurrent cand... ORPHA:572
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... OMIM:233690
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Sepsis, Septic arthritis ORPHA:36237
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Leukocytosis, Sepsis, Recur... ORPHA:764
Hereditary Angioedema Type 1
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Facial edema, Abn... ORPHA:100050
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... OMIM:619644
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Cholangitis, Malabsorption,... OMIM:209920
Acute Lung Injury
Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein concentration, Edema, Seps... ORPHA:178320
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612924
Necrotizing Enterocolitis
Hyponatremia, Neonatal sepsis, Small for gestational age, Edema, Leukocytosis, Peritonitis, Neutr... ORPHA:391673
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Neonatal sepsis, Hyperammonemia, Recurrent infections, 3-Methylglutaconic aciduria, Hyperalaninem... OMIM:614739
Chédiak-Higashi Syndrome
Edema, Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, A... ORPHA:167
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema OMIM:106100
Alg12-Cdg
Edema, Polyhydramnios, Sepsis, Hypoalbuminemia, Gastroesophageal reflux, Hypocholesterolemia, Mic... ORPHA:79324
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hep... OMIM:618999
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Edema, Cong... ORPHA:77297
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my... ORPHA:169090
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Renal insuffic... ORPHA:36426
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Sepsis, Dehydration, ... ORPHA:2552
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Gout, Renal cyst, Recurren... OMIM:617056
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... ORPHA:2198
Caroli Disease
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomegaly, Portal... ORPHA:53035
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb... ORPHA:507
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Elevated circu... OMIM:274150
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemi... OMIM:615863
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... OMIM:300988
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Malabsor... ORPHA:98850
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Sepsis, Mele... ORPHA:319218
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated hepatic transaminase, Proteinuria, Elevated circulating creatine kinase co... ORPHA:94093
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... ORPHA:103910
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Lymphadenitis, Granulomatosis, Hepatomegaly, Recurrent E. coli infections, Ascites... OMIM:306400
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Patent ductus arteriosus, Sepsis, Renal tubular dysfunction, Hyper... OMIM:614886
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Inflammation of the ... OMIM:301000
Pfapa Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Weight loss, Arthritis, Infecti... ORPHA:42642
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Increase... ORPHA:100024
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Elevat... ORPHA:449400
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... OMIM:619281
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Villous atrophy, Skin rash, Failure to thrive, Elevated circulating C-reactive prot... OMIM:616050
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Jaundice, Sepsis,... ORPHA:79239
Melioidosis
Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... ORPHA:31202
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Sepsis, Leukopenia, Aminoaciduria, Protein-losing enterop... OMIM:619991
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... OMIM:208085
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... OMIM:308240
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Failure to thrive, Edema, Renal cyst, Proximal tubulopathy, Hypoal... OMIM:602579
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Failure to thrive, Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune th... ORPHA:293978
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Hyperalaninemia, Sepsis, Hyperglycinemia OMIM:619059
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis OMIM:619599
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... OMIM:613673
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Sepsis, Endocarditis, Pl... ORPHA:449280
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Lymphedema, Splenomega... ORPHA:3226
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Leukocytosis,... ORPHA:67
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria ORPHA:79238
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in urine, Thrombocytopen... ORPHA:505248
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Weight loss, Oral-pharyngeal dysphagia ORPHA:100083
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Micro... OMIM:619377
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... ORPHA:54251
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... ORPHA:251004
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, Sepsis, Conjunctivitis, Oti... ORPHA:2968
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly,... OMIM:619418
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Edema, Patent ductus arteriosus, Elevated circulating creatinine... OMIM:608104
Meningococcal Meningitis
Renal insufficiency, Skin rash, Elevated circulating C-reactive protein concentration, Sepsis, In... ORPHA:33475
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ... OMIM:607765
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i... ORPHA:906
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... ORPHA:131
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Cleft palate, High palate, Increased blood urea ni... OMIM:154230
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria, Recurrent respiratory infections, Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Edema, Abnormal blood ion concentration, Dehydration, Gastrointestinal inflam... ORPHA:79404
Lamellar Ichthyosis
Recurrent respiratory infections, Renal insufficiency, Sepsis, Dehydration, Erythroderma, Chronic... ORPHA:313
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:2902
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Microglossia, Aspiration pneumonia, Weight loss ORPHA:141152
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Dehydration, N... ORPHA:79312
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Edema, Weight loss, Arthritis,... ORPHA:3165
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Rec... OMIM:214500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Lassa Fever
Facial edema, Jaundice, Oliguria, Sepsis, Increased circulating IgM level, Conjunctivitis, Dysphagia ORPHA:99824
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Elevated circ... ORPHA:829
Rhabdoid Tumor
Hypercalcemia, Weight loss, Hematuria, Anemia, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... ORPHA:85450
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Sepsis ORPHA:163921
Aicardi-Goutieres Syndrome 9
Edema, Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepato... OMIM:619487
Hemochromatosis, Type 3
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Paroxysmal Nocturnal Hemoglobinuria
Odynophagia, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic... ORPHA:447
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... ORPHA:232
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... ORPHA:324964
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Pustule, Recurrent tonsillitis, Hyperk... ORPHA:171876
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Recurrent respiratory infections, Skin rash, Elevated circulating C-reactive p... OMIM:301074
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Portal hypertension, Hepatic fibrosis, Hypoalbu... ORPHA:79319
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Edema of the dorsum of feet, Sepsis, Edema of the dorsum of hands ORPHA:544503
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Sepsis, He... ORPHA:70475
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... ORPHA:90003
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Indolent Systemic Mastocytosis
Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Increased proportion of CD25+ mas... ORPHA:98848
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abscess, Eosinophili... ORPHA:400
Focal Myositis
Myositis, Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Dehydration, Hypercalciuria, Nephroc... OMIM:143880
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Small intestinal dysmot... ORPHA:298
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Chronic Bilirubin Encephalopathy
Neonatal sepsis, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, N... ORPHA:529808
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Dehydra... ORPHA:230
Acute Bilirubin Encephalopathy
Neonatal sepsis, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, N... ORPHA:529799
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Sepsis, Recurrent infections ORPHA:204
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphedema, Leuko... OMIM:607115
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Listeriosis
Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis... ORPHA:533
Calciphylaxis
Sepsis, Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb... OMIM:614470
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... ORPHA:139402
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Sepsis, Decreased circulating antibody level, Recurrent infections, Hy... ORPHA:79396
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Polyhydramnios, Ileal atresia, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, D... OMIM:243150
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane... OMIM:614162
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insuffici... ORPHA:1667
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Reticulocytopenia, Hydrops fetalis, Dehydration, 3-Methylg... OMIM:557000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... OMIM:304790
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis... ORPHA:171
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Hepatomegaly ORPHA:66661
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Villous atrophy, Recurrent respiratory infections, Failure to thrive in infancy, Ecz... OMIM:619510
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Hepatic failure, Esophageal varix, ... ORPHA:75233
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ... ORPHA:2241
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... OMIM:615214
Holocarboxylase Synthetase Deficiency
Eczema, Hyperammonemia, Keratoconjunctivitis, Weight loss, Organic aciduria, Thrombocytopenia, Pe... ORPHA:79242
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... OMIM:614204
Alg6-Cdg
Jaundice, Decreased LDL cholesterol concentration, Macroglossia, Abnormality of the liver, Protei... ORPHA:79320
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... OMIM:619381
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop... ORPHA:1304
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Chylomicron Retention Disease
Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL chole... OMIM:246700
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Dehydration... OMIM:251000
Adult Acute Respiratory Distress Syndrome
Pancreatitis, Sepsis, Pneumonia, Pulmonary edema ORPHA:70578
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Failure to thrive OMIM:613217
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Uveitis, Conjuncti... ORPHA:90321
Currarino Syndrome
Anal stenosis, Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Peri... OMIM:176450
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Cystathioninuria, Hyperhomocystinemia, High palate, Neutropenia, Homocystin... OMIM:277380
Intestinal Dysmotility Syndrome
Polyhydramnios, Weight loss, Decreased intestinal transit time, High palate, Failure to thrive OMIM:620045
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... ORPHA:91547
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Elevated circulating creatinine concentration, Gastroesop... OMIM:223900
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss... OMIM:613662
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... ORPHA:35858
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Cachexia, Lymphedema, Malabsorption, Splenomegaly, Furrowed t... ORPHA:2930
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-... OMIM:175500
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Peptic ulcer... ORPHA:98849
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Pedal edema, Weight loss,... ORPHA:188
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... OMIM:617099
Familial Hemophagocytic Lymphohistiocytosis
Colitis, Hypoalbuminemia, Neutropenia, Infectious encephalitis, Hepatomegaly, Maculopapular exant... ORPHA:540
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Eleva... OMIM:610377
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Cleft palate, Elev... ORPHA:79284
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... ORPHA:65682
Macrophage Activation Syndrome
Increased inflammatory response, Hepatomegaly, Hypertriglyceridemia, Elevated circulating asparta... ORPHA:158061
Central Diabetes Insipidus
Hyponatremia, Dehydration, Weight loss, Failure to thrive, Nocturia ORPHA:178029
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Polyhydramnios, Microcolon, Megacystis, Sepsis, Hydronephrosis OMIM:619362
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... ORPHA:449395
Nocardiosis
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, P... ORPHA:31204
Infant Acute Respiratory Distress Syndrome
Sepsis, Pneumonia, Pulmonary edema ORPHA:70587
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... OMIM:614172
Tuberculosis
Weight loss ORPHA:3389
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Elevated ci... OMIM:214950
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Sepsis, Gastrointestinal inflammat... ORPHA:95455
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:1302
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Hepatomegaly, Increased c... ORPHA:85443
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot... OMIM:116920
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... ORPHA:275761
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Weight loss, Pleural effusion ORPHA:545
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Muckle-Wells Syndrome
Renal insufficiency, Maculopapular exanthema, Elevated circulating C-reactive protein concentrati... OMIM:191900
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, He... ORPHA:90060
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Recurrent viral infections, T lymphocytopenia, Hemolytic anemia, Psoriasiform de... OMIM:606367
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Conjug... ORPHA:30391
Castleman Disease
Abnormality of the gastrointestinal tract, Intestinal obstruction, Renal insufficiency, Elevated ... ORPHA:160
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... ORPHA:42
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Intestinal obstruction, Weight loss, Inflammation of the large in... ORPHA:26790
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Hepatomegaly ORPHA:86893
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Elevated circulating C-reactive protein con... OMIM:612852
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Recurrent aphthous stomatitis... OMIM:260570
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Ulcerative colitis, Weight loss, Inflammation of the large intestine, Rec... OMIM:266600
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Edema, Leukocytosis, ... ORPHA:20
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Oliguria, Weight loss, Lymphocytosis, ... ORPHA:514
Orthostatic Hypotension 1
Hypomagnesemia, High palate, Nocturia, Increased blood urea nitrogen OMIM:223360
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Ileus, Weight l... ORPHA:83469
Sarcoidosis
Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hemo... ORPHA:797
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration OMIM:221400
Cryptococcosis
Osteomyelitis, Lymphoid leukemia, Pneumonia, Peritonitis, Sepsis, Cirrhosis, Pleural effusion, Pr... ORPHA:1546
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Edema, Leukocytosis, Hyperammonemia, Dehydration, Weight loss, Hyperuric... ORPHA:134
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, ... OMIM:251110
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Eczema, Celiac disease, Thyroiditis, Weight los... OMIM:212750
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Skin rash, Lymphedema, Abnormality of the spleen, Weig... ORPHA:33276
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Acanthocytosis, Increased... ORPHA:71
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... OMIM:300908
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Edema, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Chilblains, Pericar... OMIM:615846
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Hypere... OMIM:615387
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular car... OMIM:232220
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Neutrope... OMIM:601495
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Recurrent candida infections, Gastrointest... ORPHA:48435
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti... OMIM:120100
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Intestinal perforation, Thrombocytopenia, Peritonitis, Leu... ORPHA:90038
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Splenomegaly, Increased circulating ferrit... ORPHA:465508
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-... OMIM:619652
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... OMIM:615710
Visceral Myopathy 2
Necrotizing enterocolitis, Intestinal obstruction, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Medullary Thyroid Carcinoma
Weight loss, Abnormal liver parenchyma morphology, Dysphagia ORPHA:1332
Hypercholanemia, Familial 1
Fat malabsorption, Failure to thrive, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Pneumocystosis
Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc... ORPHA:723
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Intestinal obstruc... ORPHA:183
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Fai... OMIM:615816
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Weight loss ORPHA:2023
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive OMIM:612075
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Elevated circulating C-reactive protein ... ORPHA:767
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Weight loss, Failure to... ORPHA:1842
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Small for gest... OMIM:260400
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Bronchiectasis, Weight loss ORPHA:1164
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... ORPHA:824
Insulin-Resistance Syndrome Type B
Decreased body weight, Skin rash, Pneumonia, Proteinuria, Increased circulating IgA level, Abnorm... ORPHA:2298
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Alveolar Echinococcosis
Liver abscess, Cholangitis, Eosinophilia, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Q Fever
Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculopapular exa... ORPHA:781
Whipple Disease
Hyponatremia, Gastrointestinal hemorrhage, Myositis, Pericarditis, Hepatomegaly, Cachexia, Malabs... ORPHA:3452
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Chronic hepatitis... OMIM:614602
Pleural Mesothelioma
Hepatomegaly, Pleural effusion, Weight loss, Dysphagia ORPHA:50251
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Dehydration, Decreased intestinal transit time, Ste... OMIM:615237
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Intestinal bleeding, Gastroesophageal reflux,... ORPHA:90291
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Polyhydramnios, Lymphedema, Splenomegaly, Pancreatic lymphangiectasis, Cleft palate... OMIM:235255
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... ORPHA:293173
Ectodermal Dysplasia-Skin Fragility Syndrome
Urethral stricture, Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Recurrent... ORPHA:158668
Malignant Peritoneal Mesothelioma
Peritonitis, Ileus, Pedal edema, Weight loss, Ascites ORPHA:168811
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... OMIM:251100
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Nephrolithiasis, Weigh... OMIM:617321
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... ORPHA:370348
Pseudo-Torch Syndrome 3
Proteinuria, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Acute kid... OMIM:618886
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Periorbital edema, Granulomatos... ORPHA:900
Mosaic Trisomy 9
Hypoplasia of penis, Intestinal malrotation, Polyhydramnios, Asplenia, Patent ductus arteriosus, ... ORPHA:99776
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss,... ORPHA:35710
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, Cachexia, High, narrow palate, Rectal prolapse, A... ORPHA:79076
Takayasu Arteritis
Increased inflammatory response, Weight loss, Arthritis, Gastrointestinal infarctions, Inflammato... ORPHA:3287
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... ORPHA:98897
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Recurrent upp... OMIM:618183
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Hypercalciuria, Macroglossi... OMIM:618440
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Leukopenia, Neutropenia, St... ORPHA:520
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Neonatal sepsis, Pneumonia, Jaundice, Hyperkalemia, Failure to thrive ORPHA:90790
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Viral hepatitis, Pericarditis, Membranoproliferative g... ORPHA:91139
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In... ORPHA:93941
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria ORPHA:1933
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Recurrent infe... OMIM:301078
Plague
Glossitis, Chapped lip, Hepatomegaly, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Splenome... ORPHA:707
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Abnormal intestine morphology, Protein-losing enteropathy, Eso... OMIM:619079
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... OMIM:615688
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Neonatal sepsis, Hydronephrosis OMIM:619217
Huntington Disease-Like 2
Weight loss ORPHA:98934
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Weight loss, Bone marrow hypocellularity ORPHA:391
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Failure to thrive, Steatorrhea OMIM:613291
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Esophageal stenosis, Proteinuria, Hypoperistalsis, Keratitis, E... ORPHA:1018
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Edema, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Skin rash... ORPHA:50918
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Sterile pyuria, Tubuloi... ORPHA:91500
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Erythroderma, Failure to t... OMIM:614328
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Gastrointestinal dysmotility, Pedal edema, Weight... ORPHA:330001
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight ORPHA:1672
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Functional abnormality of the bladder, T lymphocytopenia, Infectious encephaliti... ORPHA:391487
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Rheumatoid Arthritis
Joint swelling, Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Weig... OMIM:180300
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... ORPHA:1930
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con... ORPHA:732
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... ORPHA:100085
Pancreatic Colipase Deficiency
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... ORPHA:309108
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hepatoblastoma, Chronic pancr... OMIM:232240
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Diaphanospondylodysostosis
Increased nuchal translucency, Cleft palate, Horseshoe kidney, Abnormal liver lobulation, Cystic ... OMIM:608022
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Hepatosplenomegaly, High... ORPHA:1655
Menkes Disease
Gastrointestinal hemorrhage, Osteomyelitis, Malabsorption, Sepsis, Bladder diverticulum, Prolonge... ORPHA:565
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Gastritis, Small for gestational age, Increased mean platelet volu... ORPHA:84064
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Failure to thrive, Increased circulating IgA level, Pyloric stenosis, Recurrent infe... OMIM:616395
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Reduced C-peptide level, Weight loss, Neoplasm of the liver, Urin... ORPHA:2126
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice, Recurrent pancreat... ORPHA:676
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology, Cleft palate ORPHA:398189
Trichohepatoenteric Syndrome 1
Villous atrophy, Polyhydramnios, Hypoalbuminemia, Hepatic fibrosis, Bifid uvula, Hepatomegaly, Hy... OMIM:222470
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Functional intestinal obstruction, Inte... ORPHA:1333
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Aca... ORPHA:96180
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... OMIM:233450
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Weight loss OMIM:191390
Glucagonoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Skin... ORPHA:97280
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Abetalipoproteinemia
Fat malabsorption, Abetalipoproteinemia, Acanthocytosis OMIM:200100
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Elevated circulating deoxyuridine concentration, Intestinal pseudo-obstructi... OMIM:603041
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia, Dysphagia OMIM:618093
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Malabsorption, Intrahepatic cholestasis, D... ORPHA:97282
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... ORPHA:94080
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Edema, Gast... ORPHA:100078
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Elevated ... ORPHA:319213
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decrease... ORPHA:95409
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea, Hypocholesterolemia OMIM:614338
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... OMIM:260920
Somatostatinoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Hype... ORPHA:97283
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Renal salt wasting, Celiac disease, Thiamine-resp... ORPHA:85138
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respiratory infections, Failure to thr... OMIM:618278
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... ORPHA:2929
Huntington Disease
Abnormal circulating cholesterol concentration, Weight loss, Decreased body mass index, Oral-phar... ORPHA:399
Riddle Syndrome
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent viral infections, Recu... ORPHA:420741
Cap Polyposis
Hematochezia, Atrophic gastritis, Colorectal polyposis, Weight loss ORPHA:160148
Chronic Beryllium Disease
Weight loss, Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-positive T cells ORPHA:133
Bullous Pemphigoid
Weight loss, Psoriasiform dermatitis, Eczema, Recurrent infections ORPHA:703
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss, Recurrent infections ORPHA:704
Attrv30M Amyloidosis
Nephropathy, Abnormal renal physiology, Weight loss ORPHA:85447
Erythrokeratodermia Variabilis
Skin rash, Weight loss ORPHA:317
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... OMIM:256700
Inhalational Anthrax
Sepsis ORPHA:247257
Ctcf-Related Neurodevelopmental Disorder
Small for gestational age, Phimosis, Patent ductus arteriosus, Sepsis, Cleft palate, Recurrent in... ORPHA:363611
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Reticulocytosis, Hepatome... ORPHA:14
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ... ORPHA:440437
Isaacs Syndrome
Weight loss ORPHA:84142
Idiopathic Bronchiectasis
Cachexia, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia... ORPHA:60033
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig... OMIM:219800
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Urachal Cyst
Abscess, Elevated circulating C-reactive protein concentration, Pyuria, Dysuria, Leukocytosis, Pe... ORPHA:488
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Severe periodontitis, Palpebral e... ORPHA:99843
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Hypocalcemia, Cachexia ORPHA:1438
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Rectal prolapse, ... OMIM:235510
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Patent ductus arteriosus, Hydrops fetalis, Hepato... ORPHA:354
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Renpenning Syndrome
Hypospadias, Cachexia, High, narrow palate, Cleft palate, Anal atresia ORPHA:3242
Nephroblastoma
Hematuria, Neoplasm of the liver, Weight loss ORPHA:654
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, He... ORPHA:85408
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Splenic infarcti... OMIM:603903
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss ORPHA:1979
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... ORPHA:3337
Juvenile Dermatomyositis
Calcinosis, Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Elevated circulating ... ORPHA:93672
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... OMIM:618213
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Alexander Disease Type I
Failure to thrive, Cachexia, Dysphagia ORPHA:363717
Infection-Related Hemolytic Uremic Syndrome
Anuria, Edema, Intestinal perforation, Gastrointestinal infarctions, Hypocalcemia, Nephrotic rang... ORPHA:544482
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Odynophagia, Uveitis, Dehydration, Leukopenia... ORPHA:99826
Huntington Disease-Like 2
Weight loss OMIM:606438
Yellow Fever
Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating creatine kinase concentration, ... ORPHA:99829
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Colitis, Neutrophilia, Leukocytosis, Angioedema, Chronic hepatitis, Hepatosplenomega... ORPHA:3260
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Aredyld Syndrome
Splenomegaly, Abnormality of the ureter, Cachexia, Hepatomegaly ORPHA:1133
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Ppoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Hype... ORPHA:97278
X-Linked Creatine Transporter Deficiency
Abnormal circulating creatine concentration, Ileus, Aganglionic megacolon, Cachexia ORPHA:52503
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss... ORPHA:679
Trigonocephaly 1
High, narrow palate, Meckel diverticulum, Long penis OMIM:190440
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumat... ORPHA:79128
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Hypercalcemia, Renal hamartoma, Nep... ORPHA:143
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Recurrent inf... ORPHA:361
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Increased urinary cortisol level, Intestinal obstruction, Duodenal u... ORPHA:913
Zygomycosis
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Unusual gastrointestinal inf... ORPHA:73263
Loeffler Endocarditis
Pericarditis, Eosinophilia, Weight loss ORPHA:75566
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomeg... ORPHA:729
Erdheim-Chester Disease
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Retroperitoneal fibrosis, Weight loss, Jo... ORPHA:35687
Christianson Syndrome
Gastroesophageal reflux, Cachexia, Dysphagia ORPHA:85278
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Behçet Disease
Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Renal... ORPHA:117
Ventilator-Induced Diaphragmatic Dysfunction
Sepsis ORPHA:505395
Moynahan Syndrome
Cachexia ORPHA:2574
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Failure to thrive, Proteinuria, Cachexia, Hyp... OMIM:610965
Juvenile Huntington Disease
Weight loss ORPHA:248111
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hypercalcemia, Weight loss ORPHA:97289
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy... ORPHA:31826
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Decreased glomerular fi... ORPHA:340
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Bronchiectasis, Weight loss ORPHA:411703
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Acrodermatitis Enteropathica
Glossitis, Malabsorption, Pustule, Cheilitis, Furrowed tongue, Weight loss, Conjunctivitis, Failu... ORPHA:37
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Pericardial effusion, Iridocyclitis... OMIM:181000
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Pancytopenia, Phimosis, Urinary bladder inflammation, E... ORPHA:99921
Pancreatic Triacylglycerol Lipase Deficiency
Edema, Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Steatorrhea, Exo... ORPHA:309031
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... ORPHA:144
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Abnormal blood ion concentration, D... ORPHA:31824
Thymic Carcinoma
Palpebral edema, Edema, Weight loss ORPHA:99868
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Grfoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Hype... ORPHA:97261
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Patent ductus arteri... ORPHA:210122
Isolated Succinate-Coq Reductase Deficiency
Vesicoureteral reflux, Weight loss ORPHA:3208
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Leukocytosis, Renal hypoplasia, Abdominal obesity, Azo... OMIM:619321
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ... ORPHA:99827
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Vesicoureter... OMIM:611376
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Fac... ORPHA:79078
Fanconi Anemia
Leukopenia, Abnormality of the liver, High palate, Hypospadias, Aplasia/Hypoplasia of the uvula, ... ORPHA:84
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Giant Cell Arteritis
Pericarditis, Renal insufficiency, Recurrent pharyngitis, Weight loss, Hematuria, Arthritis, Gast... ORPHA:397
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Cachexia, Proteinuria, Polyhydramnios ORPHA:2774
Poems Syndrome
Edema, Pericardial effusion, Weight loss, Increased circulating antibody level, Thrombocytosis, P... ORPHA:2905
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Malabsorption OMIM:277175
Cog8-Cdg
Elevated hepatic transaminase, Failure to thrive, Protein-losing enteropathy ORPHA:95428
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Reactive Arthritis
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Enthesitis, Weight loss... ORPHA:29207
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Weight loss ORPHA:2221
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ... OMIM:115470
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... ORPHA:100086
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Recurrent sinopulmonary infections,... ORPHA:647
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Aspiration pneumonia, Dysphagia ORPHA:216866
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Proteinuria, Lymphedema, Pericardial effusion, Reduc... ORPHA:79318
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Hematemesis, Weight loss, Melena, Iron deficiency an... ORPHA:100075
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Calcium nephrolithiasis, Abnormal circulating calcium concentration, Bronchiectasis... ORPHA:60025
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Cachexia ORPHA:1389
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Erythroderma ORPHA:312
Anaplastic Thyroid Carcinoma
Weight loss, Tracheoesophageal fistula, Dysphagia ORPHA:142
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic... OMIM:608710
Hennekam-Beemer Syndrome
Mastocytosis, Failure to thrive, High palate, Pneumonia ORPHA:2135
Tetrasomy 12P
Abnormal soft palate morphology, Cachexia, Anal atresia ORPHA:884
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Polyhydramnios, Pancreatitis, Megacystis, H... OMIM:155310
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Polyhydramnios, Narrow palate, Gastroesophageal reflux, High palate OMIM:618186
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Renal insufficiency, Malabsorption, Weight loss, Neutropenia ORPHA:79430
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Mcdonough Syndrome
Cachexia ORPHA:2471
Osteosarcoma
Joint swelling, Weight loss ORPHA:668
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Nephrocalci... OMIM:104200
Microvillus Inclusion Disease
Villous atrophy, Dehydration, Nephrocalcinosis, Abnormal small intestinal villus morphology, Abno... ORPHA:2290
Pancreatoblastoma
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss ORPHA:677
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Polyhydramnios, Lymphedema OMIM:618154
Fatal Familial Insomnia
Weight loss, Urinary retention, Dysphagia OMIM:600072
Huntington Disease-Like 1
Weight loss ORPHA:157941
Kawasaki Disease
Pericarditis, Skin rash, Proteinuria, Edema, Myocarditis, Leukocytosis, Jaundice, Recurrent phary... ORPHA:2331
Adrenocortical Carcinoma
Increased urinary cortisol level, Increased body weight, Weight loss, Hypokalemia, Abnormality of... ORPHA:1501
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss ORPHA:747
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of the ureter... ORPHA:1666
Tarp Syndrome
Failure to thrive, Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High palate, Hep... OMIM:311900
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Duodenal ulcer, Steatorrhea, Malabsorption ORPHA:3217
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypospadias, Oligohydramnios ORPHA:139466
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... ORPHA:79102
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Unilateral renal agenesis, Recurrent pneumonia, Sepsis, Acute myelomonocytic leukemia, D-2-hydrox... ORPHA:99646
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis ORPHA:71493
Renal Nutcracker Syndrome
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia ORPHA:71273
Perry Syndrome
Weight loss ORPHA:178509
Tarp Syndrome
Failure to thrive, Extramedullary hematopoiesis, Cleft palate, Horseshoe kidney, Glossoptosis, Ab... ORPHA:2886
Malt Lymphoma
Recurrent respiratory infections, Posterior uveitis, Anemia, Weight loss ORPHA:52417
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Intestinal pseudo-obstruction, Mildly elevated creatine kinase, Dysphagia OMIM:607459
Neuroendocrine Tumor Of The Colon
Melena, Hepatomegaly, Weight loss, Elevated hepatic transaminase ORPHA:100080
8P23.1 Microdeletion Syndrome
Hypospadias, Patent ductus arteriosus, Obesity, Weight loss, High palate ORPHA:251071
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Hematochezia, Melena ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Hematochezia, Melena ORPHA:100082
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Failure to thrive, Hypospadias, Cachexia ORPHA:217346
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Edema, Periorbita... ORPHA:221
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss ORPHA:79127
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology,... ORPHA:3132
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Eosinophilia, Seborrheic dermatitis, Edema of ... OMIM:274000
Acquired Central Diabetes Insipidus
Pollakisuria, Weight loss ORPHA:95626
Bronchial Neuroendocrine Tumor
Hepatomegaly, Hepatic failure, Pneumonia, Weight loss ORPHA:97287
Oromandibular Dystonia
Weight loss, Dysphagia ORPHA:93958
Silver-Russell Syndrome
Failure to thrive in infancy, Hypospadias, Cachexia, Obesity, Gastroesophageal reflux ORPHA:813
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Nonimmune hydrops fetalis, Polyhydramnios, Intestinal malrotation, Aspl... OMIM:265380
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, P... OMIM:229850
Pelizaeus-Merzbacher Disease
Recurrent respiratory infections, Failure to thrive in infancy, Cachexia ORPHA:702
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Increased urinary cortisol level, Pancreatic adenocarcin... ORPHA:99889
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallblad... ORPHA:512
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Moderate albuminuria, Dehydration, Weight loss, Renal tubular dysfu... ORPHA:99885
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Oculopharyngodistal Myopathy 1
Weight loss, High palate, Elevated circulating creatine kinase concentration, Dysphagia OMIM:164310
Infantile Krabbe Disease
Failure to thrive, Gastroesophageal reflux, Cachexia, Recurrent infections ORPHA:206436
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal var... ORPHA:2072
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Abnormal large intestine morphology, Lymphedema, Cachexia, Narrow palate, H... ORPHA:109
Congenital Tracheal Stenosis
Fetal ascites, Polyhydramnios, Abnormal stomach morphology, Patent ductus arteriosus, Abnormality... ORPHA:141127
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Cachexia, Dysphagia ORPHA:300605
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Mucolipidosis Type Ii
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Weight loss, Otitis media, Ol... ORPHA:576
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, High palate, Obesity, Cachexia ORPHA:85293
Liposarcoma
Weight loss ORPHA:69078
Choreoacanthocytosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... ORPHA:2388
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Duodenal ulcer, Hypercalcemia, Peptic ulcer, Hematemesis, Insulinoma, N... ORPHA:652
Glossopharyngeal Neuralgia
Odynophagia, Weight loss, Oral-pharyngeal dysphagia ORPHA:221098
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria... ORPHA:191
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal ... ORPHA:2847
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Polyhydramnios, Cachexia, Abnormality of the ... ORPHA:800
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Acne, Renal salt wasting, Long penis, Hyperkalemia, Dehydration, Elevated urinary e... ORPHA:90794
Trisomy 18
Cachexia, Esophageal atresia, Narrow palate, Cleft palate, Hydronephrosis, Anal atresia, Oligohyd... ORPHA:3380
Perry Syndrome
Weight loss OMIM:168605
Hereditary Late-Onset Parkinson Disease
Weight loss, Spastic/hyperactive bladder, Dysphagia ORPHA:411602
Rett Syndrome
Gastroesophageal reflux, Cachexia OMIM:312750
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Polyhydramnios, Weight loss, High palate, Aspiration pneumonia,... ORPHA:2020
Short Syndrome
Weight loss ORPHA:3163
Tropical Endomyocardial Fibrosis
Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly, Pedal edema, Peripheral edema, Hypoalbuminemi... ORPHA:75565
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Hypospadias, Small for gestational age, Patent ductus ... ORPHA:1708
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Urinary retention, Slender build, Anemia ORPHA:1328
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Pyloric stenosis, Recurrent pneumonia, Pyelonephritis, Urethr... ORPHA:90349
African Trypanosomiasis
Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Keratitis, Myocarditis, Sp... ORPHA:3385
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Recurrent skin infections, Intestinal malrotation, Hiatus hernia, Cleft palate, Nephrotic syndrom... OMIM:601776
Viss Syndrome
Chronic gastritis, Polyhydramnios, High, narrow palate, Increased circulating IgG level, High pal... OMIM:619472
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Fraser Syndrome 1
Abnormal small intestine morphology, Hypospadias, Renal hypoplasia, Cleft palate, Micropenis, Abn... OMIM:219000
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Hypokalemia, Weight loss ORPHA:91347
Stickler Syndrome
Recurrent respiratory infections, Slender build, Cachexia, Osteoarthritis, Uveitis, Cleft palate,... ORPHA:828
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Cachexia ORPHA:220295
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Cachexia ORPHA:1969
Proteus Syndrome
Thymus hyperplasia, Cachexia, Lymphedema, Splenomegaly, Long penis, Renal cyst, Recurrent infections ORPHA:744
Marfan Syndrome
Arthralgia/arthritis, Cachexia, High, narrow palate, Cleft palate, Slender build ORPHA:558
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Weight loss, High palate, Severe failure to thrive, Ankyloglossia ORPHA:740
Seckel Syndrome
Cachexia ORPHA:808
Norrie Disease
Failure to thrive, Cachexia ORPHA:649
Distal 22Q11.2 Microdeletion Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, High, narrow palate, Pylori... ORPHA:261330
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Bcr

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bcr.

No publications found that use IMPC mice or data for Bcr.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Bcrtm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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