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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
phenotypes
Matching phenotypes Source
Reticular Dysgenesis
Failure to thrive, Malabsorption, Skin rash, Dehydration, Leukopenia, Sepsis, Chronic otitis medi... ORPHA:33355
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Malabsorption, Decreased circulating IgA level, Intussusception, Decr... ORPHA:90363
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Isolated Agammaglobulinemia
Failure to thrive, Malabsorption, Sinusitis, Skin rash, Otitis media, Sepsis, Abnormal lymphocyte... ORPHA:229717
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Sepsis, Intermittent thrombocytopenia, Decreased cir... OMIM:616740
X-Linked Agammaglobulinemia
Failure to thrive, Malabsorption, Hypocalcemia, Osteomyelitis, Sinusitis, Skin rash, Glossoptosis... ORPHA:47
Autosomal Agammaglobulinemia
High palate, Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent ski... ORPHA:33110
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Hyperammonemia, Sepsis, Renal insufficienc... ORPHA:289916
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Skin rash, Hepatic failure, Leukopenia, Hydrops fetalis, Sepsis, My... ORPHA:292
Galactose Mutarotase Deficiency
Decreased liver function, Failure to thrive, Hepatomegaly, Sepsis, Hypergalactosemia, Cholestasis ORPHA:570422
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Eczema, Sepsis, Decreased prealbumin level, Pneumonia, Fail... ORPHA:37042
Secondary Short Bowel Syndrome
Failure to thrive, Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestina... ORPHA:95427
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Esophageal varix, Gastrointestinal hemorrhage, Jaundice, Hype... ORPHA:64743
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, H... OMIM:616100
Pgm3-Cdg
High palate, Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone... ORPHA:443811
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influe... ORPHA:276
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Felty Syndrome
Hepatomegaly, Sepsis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Weight loss, Splenomeg... ORPHA:47612
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula... ORPHA:169154
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... OMIM:614700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis OMIM:619398
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Neutropenia, Lymphopenia, Decreased circulating IgG level, Partial absenc... OMIM:618986
Alg1-Cdg
Decreased liver function, Nephrotic syndrome, Sepsis, Abnormality of the gastrointestinal tract, ... ORPHA:79327
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Intestinal malrotation, Multicystic kidney dysplasia, Abnormal... ORPHA:3032
Omenn Syndrome
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Se... ORPHA:39041
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Sepsis, Aplastic anemia, EBV en... OMIM:615122
Eosinophilic Gastroenteritis
Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, ... ORPHA:2070
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased cir... OMIM:308230
Caroli Syndrome
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Sepsis, Esophageal varix... ORPHA:480520
Galactosemia
Failure to thrive, Hepatomegaly, Hepatic failure, Cirrhosis, Increased level of galactitol in pla... ORPHA:352
Idiopathic Achalasia
Gastroesophageal reflux, Decreased prealbumin level, Recurrent aspiration pneumonia, Dysphagia, W... ORPHA:930
Bacterial Toxic-Shock Syndrome
Sepsis, Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Septic ar... ORPHA:36234
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Neonatal Alloimmune Neutropenia
Sepsis, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pneumonia ORPHA:464370
Specific Granule Deficiency 2
Failure to thrive, Recurrent otitis media, Sepsis, Recurrent bacterial infections, Recurrent pneu... OMIM:617475
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Eczema, Sepsis, Aplastic anemia, Ma... ORPHA:811
Shigellosis
Hepatic failure, Urethritis, Sepsis, Abscess, Myocarditis, Cholestasis, Uveitis, Pneumonia, Micro... ORPHA:810
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Recurrent skin infections... OMIM:612840
Chronic Granulomatous Disease
Malabsorption, Sinusitis, Hepatomegaly, Splenomegaly, Otitis media, Tracheoesophageal fistula, Ec... ORPHA:379
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Sepsis, Enlarged kidney, Proteinuria, Bone marrow hypocellularity, Nephrotic syndro... OMIM:617303
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Stomach cancer, Otit... ORPHA:331235
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Onychomycosis, Nephrotic syndrome, Lymphopenia, Splenomegaly, Recurrent tonsilli... OMIM:618935
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Mirage Syndrome
Decreased body weight, Gastroesophageal reflux, Lymphopenia, Aspiration pneumonia, Hypospadias, L... OMIM:617053
Cyclic Neutropenia
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Otitis media, Recurrent skin infections, Re... ORPHA:2686
Hirschsprung Disease
Sepsis, Failure to thrive in infancy, Intestinal obstruction, Intestinal polyposis, Weight loss, ... ORPHA:388
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... OMIM:614817
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:613502
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hepatic steatosis, Argi... OMIM:603471
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Hepatomegaly, Cleft palate, Otitis media, Sepsis, Splenomegaly, Recurrent urinary tr... OMIM:612541
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... ORPHA:183675
Staphylococcal Necrotizing Pneumonia
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Pleural empyem... ORPHA:36238
Angioedema, Hereditary, 3
Intestinal edema, Pharyngeal edema, Facial edema, Angioedema OMIM:610618
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... OMIM:300755
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hepatomegaly, Cleft palate, Hepatic failur... OMIM:619573
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Cirrhosis, Hepatosplenomegaly, Recurrent upper... ORPHA:263501
Immunodeficiency 66
Sepsis, Defective T cell proliferation, Pustule, Recurrent skin infections OMIM:618847
Alpha-Heavy Chain Disease
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Dysg... ORPHA:100025
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... OMIM:209950
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, Sep... ORPHA:231154
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... OMIM:266265
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low... OMIM:602450
Immunodeficiency 59 And Hypoglycemia
High palate, Malabsorption, Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections,... OMIM:233600
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Recur... OMIM:209920
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Skin rash, Macular edema, Sepsis, Normocytic anemia, Neph... ORPHA:247691
Desmoid Tumor
Malabsorption, Desmoid tumors, Sepsis, Intestinal obstruction, Intestinal polyposis, Hydronephros... ORPHA:873
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o... OMIM:613501
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Sepsis, Endocarditis, Hematuria, Myocarditis, Bone marro... ORPHA:549
Sepsis In Premature Infants
Decreased liver function, Decreased body weight, Elevated circulating C-reactive protein concentr... ORPHA:90051
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent otitis media, Recurrent... OMIM:616022
Immunodeficiency 69
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Skin... OMIM:618963
Refractory Celiac Disease
Malabsorption, Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Inflammatory abno... ORPHA:398063
Acquired Purpura Fulminans
Elevated circulating C-reactive protein concentration, Skin rash, Hepatic failure, Sepsis, Thromb... ORPHA:49566
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Extramedulla... OMIM:615285
Immunodeficiency 68
Recurrent skin infections, Lymphadenitis, Abscess, Sepsis, B lymphocytopenia, T lymphocytopenia, ... OMIM:612260
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, He... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, He... OMIM:233710
Mantle Cell Lymphoma
Weight loss, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Recurrent bacterial skin infections, Viral hepatiti... ORPHA:101330
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Jaundice, Hemophagocytosis, Splenomeg... OMIM:603552
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612922
Acute Lung Injury
Increased circulating surfactant protein level, Elevated circulating C-reactive protein concentra... ORPHA:178320
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612925
Late-Onset Isolated Acth Deficiency
Failure to thrive, Eosinophilia, Sepsis, Normocytic anemia, Macrocytic anemia, Hepatitis, Hashimo... ORPHA:199299
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, He... OMIM:233690
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Hematuria, Elevated ... ORPHA:49041
Pyomyositis
Leukocytosis, Sepsis, Myositis, Renal insufficiency, Recurrent infections, Weight loss, Recurrent... ORPHA:764
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neu... OMIM:619644
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Toxic Epidermal Necrolysis
Dysuria, Malabsorption, Pancreatitis, Acute hepatic failure, Anemia, Tracheoesophageal fistula, S... ORPHA:537
Bullous Impetigo
Recurrent bacterial skin infections, Sepsis, Pustule, Septic arthritis ORPHA:36237
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612926
Necrotizing Enterocolitis
Leukocytosis, Small for gestational age, Peritonitis, Edema, Neutropenia, Hyponatremia, Thrombocy... ORPHA:391673
Hereditary Angioedema Type 1
Intestinal edema, Pharyngeal edema, Facial edema, Abnormal soft palate morphology, Tongue edema, ... ORPHA:100050
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Generalized edema, Weight loss, Decreased circulating IgA level, Decreased c... ORPHA:90362
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Seps... ORPHA:169090
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... ORPHA:167
Autoinflammation, Immune Dysregulation, And Eosinophilia
Failure to thrive, Nephrotic syndrome, Eosinophilic liver infiltration, Atopic dermatitis, Eosino... OMIM:618999
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Severe B lymphocytopenia, Sepsis, Autoimmune thrombocytopenia, Recurrent upper... ORPHA:293978
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Angioedema, Laryngeal edema, Periorbital edema OMIM:106100
Alg12-Cdg
Sepsis, B lymphocytopenia, Complete or near-complete absence of specific antibody response to tet... ORPHA:79324
Majeed Syndrome
Failure to thrive, Malabsorption, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, L... ORPHA:77297
Whim Syndrome
Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Sepsis, Recurrent bacterial infections, Seve... ORPHA:51636
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Jaundice, Abnormal renal physiology, Schistocytosis, Elevated circ... OMIM:274150
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Hypoprotein... ORPHA:2494
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, ... OMIM:615863
Leishmaniasis
Increased circulating antibody level, Rhinitis, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal ... ORPHA:507
Immunodeficiency 50
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... OMIM:300988
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hyperammonemia, 3-Methylglutaconic aciduria, Recurrent infections, Neonatal se... OMIM:614739
Microsporidiosis
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Sepsis, Myocarditis, Biliary tract abnormalit... ORPHA:2552
Ebola Hemorrhagic Fever
Melena, Increased circulating antibody level, Lymphopenia, Maculopapular exanthema, Leukopenia, S... ORPHA:319218
Aggressive Systemic Mastocytosis
Decreased liver function, Malabsorption, Neutropenia, Abnormal mast cell morphology, Leukocytosis... ORPHA:98850
Stevens-Johnson Syndrome
Dysuria, Pancreatitis, Acute hepatic failure, Sepsis, Abnormality of the urethra, Esophageal stri... ORPHA:36426
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Abnormal esophagus physiology, Dyspha... ORPHA:2198
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Hepatomegaly, Lymphadenitis, Rectal abscess, Eczematoid dermatitis, Osteomyel... OMIM:306400
Wiskott-Aldrich Syndrome
Melena, Eczema, Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin te... OMIM:301000
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Aspiration pneumonia, Dehydration, Elevated circulati... ORPHA:94093
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Hematochezia, Weight loss, Protein-losing enteropathy, Hypoalbuminemia, Edema, Abnor... ORPHA:103910
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Cholelithiasis, Decreased body weight, Hyperbilirubinemia, Elevated ci... OMIM:614886
Rat-Bite Fever
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Lymphadenitis, Sepsis,... ORPHA:31205
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Pfapa Syndrome
Malabsorption, Hepatomegaly, Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephali... ORPHA:42642
Melioidosis
Splenic abscess, Prostatitis, Osteoarthritis, Sepsis, Parotitis, Brain abscess, Abnormality of th... ORPHA:31202
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... ORPHA:100024
Caroli Disease
Cholelithiasis, Weight loss, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrho... ORPHA:53035
Pulmonary Blastoma
Weight loss, Recurrent pneumonia ORPHA:64741
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis, Renal cyst, Recurr... OMIM:617056
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... OMIM:619991
Leukocyte Adhesion Deficiency
Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow... ORPHA:2968
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Inte... ORPHA:449400
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhe... ORPHA:79303
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Villous atrophy, Renal ... OMIM:602579
Classic Galactosemia
Hepatomegaly, Hepatic failure, Sepsis, Abnormal erythrocyte enzyme level, Elevated hepatic transa... ORPHA:79239
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Hyperalaninemia, Hyperglycinemia, Sepsis OMIM:619059
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Leukocytosis, Pleural empyema, Constrictive pericarditis, Intestinal obstruction, ... ORPHA:67
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... OMIM:613673
Scedosporiosis
Sinusitis, Abnormal jejunum morphology, Osteomyelitis, Pleural empyema, Sepsis, Endocarditis, Pne... ORPHA:449280
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis OMIM:619599
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent gastroenteritis, Nephrotic syndrome, Decreased circulating IgG level, Macroglossia, Rec... ORPHA:505248
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Abnormality o... ORPHA:54251
Osteootohepatoenteric Syndrome
Failure to thrive, Hypokalemia, Prolonged neonatal jaundice, Microvesicular hepatic steatosis, De... OMIM:619377
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... ORPHA:251004
Laryngeal Neuroendocrine Tumor
Weight loss, Elevated carcinoembryonic antigen level, Oral-pharyngeal dysphagia ORPHA:100083
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Abno... ORPHA:3226
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
High palate, Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hep... OMIM:619418
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Aplastic anemia,... ORPHA:2442
Galactose Epimerase Deficiency
Hepatomegaly, Aminoaciduria, Splenomegaly, Weight loss, Jaundice ORPHA:79238
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Failure to thrive, Hepatomegaly, Oligohydramnios, Cholestasis, Thromboc... OMIM:608104
46,Xy Sex Reversal 4
High palate, Anal atresia, Increased blood urea nitrogen, Cleft palate, Ureteropelvic junction ob... OMIM:154230
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... OMIM:235400
Folate Malabsorption, Hereditary
Failure to thrive, Malabsorption, Leukopenia, Recurrent infections, Neutropenia, Thrombocytopenia... OMIM:229050
Budd-Chiari Syndrome
Malabsorption, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecy... ORPHA:131
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Eczema, Sepsis, Hematochezia, Blepharitis, Conjunctivitis, Inflammation ... ORPHA:906
Meningococcal Meningitis
Elevated circulating C-reactive protein concentration, Skin rash, Sepsis, Renal insufficiency, In... ORPHA:33475
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Steatorr... OMIM:607765
Chediak-Higashi Syndrome
Periodontitis, Recurrent bacterial skin infections, Hepatomegaly, Hemophagocytosis, Splenomegaly,... OMIM:214500
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin ORPHA:542592
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... OMIM:619374
Lamellar Ichthyosis
Dehydration, Sepsis, Chronic otitis media, Renal insufficiency, Erythroderma, Recurrent respirato... ORPHA:313
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Adult-Onset Still Disease
Joint swelling, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... ORPHA:829
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Anemia OMIM:602079
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria, Hyperglycinemia, Protein-losing enteropathy, Recurrent respiratory infections OMIM:619063
Severe Generalized Junctional Epidermolysis Bullosa
Sepsis, Ureteral obstruction, Urinary retention, Pneumonia, Gastrointestinal inflammation, Pyoder... ORPHA:79404
Eosinophilic Fasciitis
Muscular edema, Abnormal eosinophil morphology, Eosinophilia, Myositis, Arthritis, Fasciitis, Ede... ORPHA:3165
Immunodeficiency 31C
Lymphopenia, Eczema, Villous atrophy, Chronic mucocutaneous candidiasis, Autoimmune hemolytic ane... OMIM:614162
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Microglossia, Weight loss, Cleft palate ORPHA:141152
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Proteinuria, Pericarditis, Weight loss, Stage 5 chronic kidney disease, Recurrent u... OMIM:619487
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic dermatitis, Abnormali... ORPHA:2902
Lassa Fever
Facial edema, Jaundice, Sepsis, Oliguria, Increased circulating IgM level, Dysphagia, Conjunctivitis ORPHA:99824
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, 3-Methylglutaric aciduria, Steatorrhea, Hepatic ... OMIM:557000
Rhabdoid Tumor
Neoplasm of the liver, Hematuria, Weight loss, Hypercalcemia, Anemia, Thrombocytopenia ORPHA:69077
Paroxysmal Nocturnal Hemoglobinuria
Odynophagia, Hemoglobinuria, Glycosuria, Proteinuria, Reduced haptoglobin level, Pancytopenia, Re... ORPHA:447
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Arthritis, Elevated hepatic... OMIM:604250
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgE, Decrease... OMIM:619510
Mitochondrial Neurogastrointestinal Encephalomyopathy
Atrophic muscularis propria, Gastroesophageal reflux, Small intestinal dysmotility, Cirrhosis, Ca... ORPHA:298
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Dehydration, Renal i... ORPHA:79312
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased glomerular filtration rate, Elevated circulating creatinine concentration... ORPHA:85450
Sickle Cell Anemia
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... ORPHA:232
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thro... OMIM:304790
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Skin rash, Palmoplantar pus... ORPHA:324964
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... ORPHA:98848
Radiation Proctitis
Rectal fistula, Sepsis, Abnormal gastrointestinal vascular morphology, Abnormal rectum morphology... ORPHA:70475
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Edema of the dorsum of feet, Sepsis, Failure to thrive, Edema of the dorsum of hands ORPHA:544503
Mpi-Cdg
Decreased liver function, Failure to thrive, Hepatomegaly, Protein-losing enteropathy, Hypoalbumi... ORPHA:79319
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent upper and lower respiratory tract infections, Osteomyelitis, Pustule, R... ORPHA:171876
Calciphylaxis
Sepsis, Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Focal Myositis
Weight loss, Elevated circulating creatine kinase concentration, Myositis ORPHA:48918
Acute Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili... ORPHA:529808
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Eleva... OMIM:214950
Wilson Disease
Joint swelling, Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic fai... ORPHA:905
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Eosinophilia, Hep... OMIM:607115
Cystic Echinococcosis
Increased circulating antibody level, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia... ORPHA:400
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Sepsis, Recurrent infections ORPHA:204
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... ORPHA:90003
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Edema, Neutropenia, Abnormal i... OMIM:600351
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Colitis, Elevated circulating C-reactive protein concentration, Lymphocytosis,... OMIM:301074
Posttransplant Acute Limbic Encephalitis
Sepsis, Hyponatremia ORPHA:163921
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Listeriosis
Sepsis, Abscess, Myocarditis, Pneumonia, Pericarditis, Jaundice, Septic arthritis, Osteomyelitis,... ORPHA:533
Netherton Syndrome
Failure to thrive, Decreased circulating IgG level, Intestinal atresia, Hypernatremic dehydration... OMIM:256500
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Conjugated hy... OMIM:601847
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Recurrent skin infections, Sepsis, Smooth tongue, Decreased circulating antibo... ORPHA:79396
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated urinary dopamine, Dehydration, Nocturia, Elevated circula... ORPHA:230
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... OMIM:614470
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Colonic atresia, Jejunal atresia, Recurrent respiratory infections, Lymphopenia, In... OMIM:243150
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Intestinal malrotation, Hydroureter, Multicystic kidney dysplasia, Abnormality of the gastrointes... ORPHA:2241
Mast Cell Sarcoma
Weight loss, Mastocytosis, Hepatomegaly, Splenomegaly ORPHA:66661
Wolcott-Rallison Syndrome
Chronic kidney disease, Exocrine pancreatic insufficiency, Hepatomegaly, Lymphocytosis, Hyperbili... ORPHA:1667
Wolman Disease
Hepatomegaly, Splenomegaly, Steatorrhea, Hepatic failure, Cachexia, Esophageal varix, Bone-marrow... ORPHA:75233
Psoriasis 14, Pustular
Oligoarthritis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... OMIM:614204
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Lymphocytosis, Pustule, Skin rash, Acute hepatic failure, Eosinophilia, Inter... ORPHA:139402
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Eczema, Keratoconjunctivitis, Perioral eczema, Organic aciduria, Weight loss, Thr... ORPHA:79242
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Hypoproteinemia, Eczema, Elevated ci... OMIM:615895
Brucellosis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Myocarditis, Epididymitis, P... ORPHA:1304
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Dehydration, Leukopenia, Methylmal... OMIM:251000
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... ORPHA:228302
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Skin rash, Leukocytosis, Splenomegaly, Art... OMIM:611762
Uremic Pruritus
Chronic kidney disease, Inflammatory abnormality of the skin, Increased blood urea nitrogen, Rena... ORPHA:94059
Cockayne Syndrome Type 1
Failure to thrive, Increased blood urea nitrogen, Hepatomegaly, Elevated hepatic transaminase, Uv... ORPHA:90321
Adult Acute Respiratory Distress Syndrome
Pancreatitis, Sepsis, Pulmonary edema, Pneumonia ORPHA:70578
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Pneumonia, W... OMIM:619381
Igg4-Related Kidney Disease
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... ORPHA:449395
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... OMIM:606367
Alg6-Cdg
Failure to thrive, Macroglossia, Decreased LDL cholesterol concentration, Protein-losing enteropa... ORPHA:79320
Intestinal Dysmotility Syndrome
High palate, Failure to thrive, Decreased intestinal transit time, Polyhydramnios, Weight loss OMIM:620045
Currarino Syndrome
Anal atresia, Anal fistula, Sepsis, Recurrent urinary tract infections, Gastrointestinal obstruct... OMIM:176450
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, He... ORPHA:91547
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... ORPHA:35858
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Joint swelling, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... OMIM:617099
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Gastroesophageal reflux, Increased blood urea nitrogen, Recurrent infections due to aspiration, A... OMIM:223900
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal renal phys... ORPHA:540
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Malabsorption, Cachexia, Intestinal pseudo-obstruction, Weight loss, Gastrointesti... OMIM:613662
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia OMIM:131400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Hypomagnesemia, Hypokalemia, Hypocalcemia, Cachexia, Xerostomia, Hematochezia, Glo... OMIM:175500
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Elevated circulating C-re... ORPHA:158061
Systemic Capillary Leak Syndrome
Pulmonary edema, Pancreatitis, Leukocytosis, Myocarditis, Oliguria, Pedal edema, Weight loss, Ren... ORPHA:188
Cronkhite-Canada Syndrome
Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Cachexia, Furrowed tongue, Intestinal ... ORPHA:2930
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirub... OMIM:211600
Hypercalcemia, Infantile, 1
Nephrolithiasis, Failure to thrive, Dehydration, Polyuria, Hypercalciuria, Infantile hypercalcemi... OMIM:143880
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Sepsis, Polyhydramnios, Hydronephrosis, Microcolon, Megacystis OMIM:619362
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Nocardiosis
Keratitis, Thyroiditis, Osteomyelitis, Lymphadenitis, Peritonitis, Brain abscess, Endocarditis, S... ORPHA:31204
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... ORPHA:171
Hepatocellular Carcinoma
Hepatomegaly, Pedal edema, Esophageal varix, Weight loss, Jaundice, Hyperbilirubinemia, Elevated ... ORPHA:88673
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Mevalonic Aciduria
Failure to thrive, Fluctuating hepatomegaly, Morbilliform rash, Elevated circulating C-reactive p... OMIM:610377
Kid Syndrome
Keratitis, Failure to thrive, Recurrent bacterial skin infections, Posterior blepharitis, Recurre... ORPHA:477
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Failure to thrive, Cleft palate, Skin rash, Unilateral renal agenesis, Elev... ORPHA:79284
Al Amyloidosis
Increased circulating antibody level, Nephrotic syndrome, Hepatomegaly, Macroglossia, Increased c... ORPHA:85443
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Scleroderma
Keratitis, Myocarditis, Uveitis, Pericarditis, Peau d'orange, Abnormal large intestine morphology... ORPHA:801
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis... OMIM:116920
Infant Acute Respiratory Distress Syndrome
Sepsis, Pulmonary edema, Pneumonia ORPHA:70587
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Keratitis, Sepsis, Hematuria, Moderate albuminuria, Pneumonia, Rhinitis, Gastrointestinal inflamm... ORPHA:95455
Tuberculosis
Weight loss ORPHA:3389
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Villous atrophy, Small for gestational age, Arthritis OMIM:613217
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, High, narrow pala... ORPHA:228308
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartat... ORPHA:79302
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hepatic failure, Esophageal varix, Weight loss, Jaundice, Dehydration, Abnormal urin... ORPHA:275761
Cryptogenic Organizing Pneumonia
Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1302
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Increased mean platelet volume, Patent ductus arteriosu... OMIM:300048
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Hepatomegaly, Splenomegaly ORPHA:86893
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Elevated circulating C-reactive protein concentration, Neutrophili... OMIM:612852
Follicular Lymphoma
Splenomegaly, Abnormality of the peritoneum, Lymphedema, Pleural effusion, Weight loss ORPHA:545
Isolated Biliary Atresia
Decreased liver function, Failure to thrive, Hepatomegaly, Dark yellow urine, Periportal fibrosis... ORPHA:30391
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Recurrent infection of the gastrointestinal tract, Lymphopenia, Rhinitis, Recurren... ORPHA:486
Sweet Syndrome
Oligoarthritis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... ORPHA:3243
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abnormality of the peritoneum, Intestinal obstruction, Weigh... ORPHA:26790
Diffuse Alveolar Hemorrhage
Leukocytosis, Hematuria, Elevated circulating creatinine concentration, Weight loss, Proteinuria,... ORPHA:90060
Sarcoidosis
Hepatomegaly, Hepatic failure, Maculopapular exanthema, Uveitis, Enlargement of parotid gland, We... ORPHA:797
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Ketonuria, Hepatomegaly, Hyperammonemia, Dehydration, Methylmalonic aciduria, ... OMIM:251110
Central Diabetes Insipidus
Failure to thrive, Dehydration, Nocturia, Hyponatremia, Weight loss ORPHA:178029
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Methy... ORPHA:859
Muckle-Wells Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Maculopapular exanthema, Rec... OMIM:191900
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... ORPHA:42
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Oliguria, Weight loss,... ORPHA:514
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Nephropathy,... ORPHA:29073
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Hyperammonemia, 3-Methy... ORPHA:20
Castleman Disease
Decreased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Uretera... ORPHA:160
Familial Cold Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Skin rash, Leukocytosis, Arthritis, Uveiti... OMIM:120100
Orthostatic Hypotension 1
High palate, Nocturia, Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Hepatomegaly, Cachexia, Abnormality of the peritoneum, Weight lo... ORPHA:83469
Cryptococcosis
Prostatitis, Osteomyelitis, Cirrhosis, Peritonitis, Sepsis, Lymphoid leukemia, Pneumonia, Pleural... ORPHA:1546
Kaposi Sarcoma
Skin rash, Abnormality of the spleen, Abnormality of the gastrointestinal tract, Lymphedema, Weig... ORPHA:33276
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Acanthocytosis, Elevated hepatic transaminase, Hypocholesterolemi... ORPHA:71
Beta-Ketothiolase Deficiency
Ketonuria, Hepatomegaly, Leukocytosis, Hyperammonemia, Dehydration, Thrombocytosis, Hyperuricemia... ORPHA:134
Familial Mediterranean Fever
Crohn's disease, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neutr... OMIM:249100
Immunodeficiency 21
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... OMIM:614172
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Trichohepatoenteric Syndrome 2
Failure to thrive, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, Chronic hepatitis... OMIM:614602
Propionic Acidemia
Failure to thrive, Pancreatitis, Hyperglycinuria, Hepatomegaly, Hyperammonemia, Dehydration, Ecze... OMIM:606054
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Inflammation of the large intestine, Intestinal obstruction, Recurrent aphthous ... OMIM:266600
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Hepatomegaly, Hematochezia, Pneumonia, Pancytopenia... OMIM:615846
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Esophageal varix, Fat malabsorp... ORPHA:731
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:157
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Joint swelling, Cholangiocarcinoma, Hepatomegaly, S... ORPHA:465508
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammagl... OMIM:601495
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Lymphocytosis, L... OMIM:619652
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Hypokalemia, Pancreatitis, Intussusception, Leukocytosis, Hemoglobinuria, Dehydrat... ORPHA:90038
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Hepatomegaly, Leukocytosis, Splenomegaly, ... ORPHA:1451
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... ORPHA:48435
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Ketonuria, Hepatomegaly, Hyperammonemia, Dehydration, Methylmalonic aciduria, ... OMIM:251100
Hodgkin Lymphoma
Weight loss, Hepatomegaly, Splenomegaly ORPHA:98293
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Ileal ulcer, Hemolytic anemia, Thrombocytopenia OMIM:616744
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Medullary Thyroid Carcinoma
Dysphagia, Weight loss, Abnormal liver parenchyma morphology ORPHA:1332
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss, Arthralgia/arthritis ORPHA:411593
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormality of the peritoneum ORPHA:2023
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Decreased liv... ORPHA:231222
Hypercholanemia, Familial 1
Failure to thrive, Fat malabsorption, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Methylmalonic Aciduria And Homocystinuria, Cblf Type
High palate, Megaloblastic anemia, Failure to thrive, Skin rash, Methylmalonic aciduria, Homocyst... OMIM:277380
Celiac Disease, Susceptibility To, 1
Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Steatorrhea, Eczema, Macrocytic... OMIM:212750
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Hepatomegaly, Weight loss, Patent ductus arteriosus, Anemia, Recurrent respira... ORPHA:1842
Juvenile Temporal Arteritis
Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis ORPHA:26137
Eosinophilic Granulomatosis With Polyangiitis
Malabsorption, Sinusitis, Gastroesophageal reflux, Skin rash, Eosinophilia, Endocarditis, Myositi... ORPHA:183
Visceral Myopathy 2
Megacystis, Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Ne... OMIM:619350
Insulin-Resistance Syndrome Type B
Decreased body weight, Increased circulating IgA level, Abnormal circulating fatty-acid concentra... ORPHA:2298
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Pericarditis, Weight loss, Abnormality of ... ORPHA:767
Alveolar Echinococcosis
Cutaneous abscess, Increased circulating antibody level, Decreased liver function, Pancreatic cys... ORPHA:284
Shwachman-Diamond Syndrome 1
Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Steatorrhea, Per... OMIM:260400
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg... ORPHA:824
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Aminoaciduria, Cachexia, Proximal tubulopathy, Weight loss OMIM:612075
Immunodeficiency 23
High palate, Failure to thrive, Lymphopenia, Eosinophilia, Abscess, Eczema, Membranoproliferative... OMIM:615816
Q Fever
Hepatomegaly, Maculopapular exanthema, Hematuria, Myocarditis, Pneumonia, Pericarditis, Weight lo... ORPHA:781
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Interstitial pneumonitis, Acute i... ORPHA:723
Whipple Disease
Malabsorption, Hepatomegaly, Splenomegaly, Cachexia, Myositis, Myocarditis, Pericarditis, Arthrit... ORPHA:3452
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Weight loss, Abnormal eosinophil morphology ORPHA:1164
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hypocalcemia, Hepatomegaly, Cleft palate, Splenomegaly, Hypoproteinemia, Micropenis,... OMIM:235255
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Systemic Sclerosis
Myocarditis, Proteinuria, Pericarditis, Albuminuria, Abnormal large intestine morphology, Joint s... ORPHA:90291
Thymoma
Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Aplastic anemia, Myositis, Imbalanc... ORPHA:99867
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema, Neutropenia, Decreased CD4:CD8 ratio, Monocytopenia OMIM:300299
Congenital Short Bowel Syndrome
Failure to thrive, Intestinal atresia, Steatorrhea, Intestinal malrotation, Dehydration, Abnormal... OMIM:615237
Mosaic Trisomy 9
High palate, Hypoplasia of penis, Cleft palate, Intestinal malrotation, Abnormal liver lobulation... ORPHA:99776
Ectodermal Dysplasia-Skin Fragility Syndrome
Failure to thrive, Cheilitis, Anoperineal fistula, Recurrent skin infections, Sepsis, Urethral st... ORPHA:158668
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Pedal edema, Weight loss, Ascites ORPHA:168811
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto... OMIM:618886
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Decreased circulating IgA level, Nephrotic syndrome, Decreased circulating IgG... OMIM:212065
Yao Syndrome
Nephrolithiasis, Inflammatory abnormality of the skin, Skin rash, Xerostomia, Keratoconjunctiviti... OMIM:617321
Oculoskeletodental Syndrome
Hypocalcemia, Hepatomegaly, Macroglossia, Splenomegaly, Small for gestational age, Hypercalciuria... OMIM:618440
Syndromic Diarrhea
Colitis, Gastritis, Hepatoblastoma, Lymphopenia, Splenomegaly, Hepatomegaly, Cirrhosis, Hypoplasi... ORPHA:84064
Glucose-Galactose Malabsorption
Nephrolithiasis, Failure to thrive, Dehydration, Hematuria, Hypernatremia, Renal insufficiency, H... ORPHA:35710
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, B lymphocytopenia, Inflammatory abnormality of the skin, Renovascular hypertension, Villo... ORPHA:391487
Pleural Mesothelioma
Dysphagia, Weight loss, Hepatomegaly, Pleural effusion ORPHA:50251
Takayasu Arteritis
Arthritis, Weight loss, Increased inflammatory response, Gastrointestinal infarctions, Anemia, In... ORPHA:3287
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Simple Cryoglobulinemia
Nephrotic syndrome, Viral hepatitis, Nephritis, Membranoproliferative glomerulonephritis, Abnorma... ORPHA:91139
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Hepatomegaly, Eczema, Esophageal varix, Pa... OMIM:615688
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Neonatal sepsis, Hyponatremia, Pneumonia, Jaundice, Hyperkalemia ORPHA:90790
Granulomatosis With Polyangiitis
Elevated circulating C-reactive protein concentration, Pancreatitis, Otitis media, Hematuria, Inc... ORPHA:900
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Chronic oral candidiasis, Decreased circulating IgG level, Hemophagocytos... OMIM:301078
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Methylmalonic aciduria, Elevated circulating creatine kinase concentration, Aminoaciduria ORPHA:1933
Oculopharyngodistal Myopathy
High palate, High, narrow palate, Impaired oropharyngeal swallow response, Recurrent aspiration p... ORPHA:98897
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hepatic failure, Cholestasis, Abnormality of the pancreas, Hypermethioninemia, Abno... OMIM:222470
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Hematochezia, Polyhydramnios, Hypertriglyceridemia, Prote... OMIM:618183
Hypouricemia, Renal, 1
Hyperuricosuria, Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid ... OMIM:220150
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis, Neonatal sepsis OMIM:619217
Laryngotracheoesophageal Cleft Type 4
Intestinal atresia, Tracheoesophageal fistula, Cachexia, Abnormality of the spleen, Abnormality o... ORPHA:93941
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Hematuria, Pancytopenia, Stomatitis, Weight loss, Neutropenia, Anemia, ... ORPHA:520
Plague
Hepatomegaly, Enterocolitis, Hematemesis, Splenomegaly, Skin rash, Lymphadenitis, Sepsis, Endocar... ORPHA:707
Pancreatic Lipase Deficiency
Hypolipidemia, Fat malabsorption, Steatorrhea OMIM:614338
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Pancreatitis, Elevated alpha-fetoprotein, Weight loss, Elevated carcino... ORPHA:370348
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Hyponatremia, ... ORPHA:1930
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Edema, Weight loss, Inflammatory abnormality of the eye, Panniculitis ORPHA:33577
Primary Hyperoxaluria Type 1
Nephrolithiasis, Dysuria, Failure to thrive, Decreased glomerular filtration rate, Recurrent urin... ORPHA:93598
Inflammatory Bowel Disease (Crohn Disease) 30
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... OMIM:619079
Kikuchi-Fujimoto Disease
Elevated circulating C-reactive protein concentration, Lymphocytosis, Pustule, Splenomegaly, Skin... ORPHA:50918
Huntington Disease-Like 2
Weight loss ORPHA:98934
Mulibrey Nanism
Cachexia, Hepatomegaly ORPHA:2576
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Bone marrow hypocellularity, Weight loss ORPHA:391
Menkes Disease
Bladder diverticulum, Malabsorption, Osteomyelitis, Sepsis, Prolonged neonatal jaundice, Gastroin... ORPHA:565
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Failure to thrive, Pustule, Villous atrophy, Erythroderma, Duodenitis, Increased cir... OMIM:614328
Diarrhea 9
Failure to thrive, Villous atrophy OMIM:618168
Diencephalic Syndrome
Cachexia, Decreased body weight, Long penis ORPHA:1672
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Esophageal neoplasm, Chronic kidney disease, Failure to thrive, Gastroesophageal reflu... ORPHA:1018
Wild Type Attr Amyloidosis
Nephrotic syndrome, Pulmonary edema, Hepatomegaly, Nephropathy, Pedal edema, Proteinuria, Pleural... ORPHA:330001
Rheumatoid Arthritis
Joint swelling, Rheumatoid arthritis, Weight loss, Elevated circulating C-reactive protein concen... OMIM:180300
Polymyositis
Gastroesophageal reflux, Hepatomegaly, Elevated circulating creatine kinase concentration, Arthri... ORPHA:732
Mastocytosis
Hepatomegaly, Splenomegaly, Mastocytosis, Angioedema, Chronic leukemia, Hypercalcemia, Gastrointe... ORPHA:98292
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea OMIM:618752
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation, Decreased circulating antibo... OMIM:618042
Tubulointerstitial Nephritis And Uveitis Syndrome
Panuveitis, Elevated circulating C-reactive protein concentration, Decreased glomerular filtratio... ORPHA:91500
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Recurrent pancreatitis, Panc... ORPHA:676
Familial Pancreatic Carcinoma
Neoplasm of the liver, Exocrine pancreatic insufficiency, Jaundice, Extrahepatic cholestasis, Hep... ORPHA:1333
Diaphanospondylodysostosis
Cleft palate, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Oligohydramnios... OMIM:608022
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Dehydration, Abnormal intestine morphology OMIM:251850
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia OMIM:617243
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Neoplasm of the liver, Abnormality of the peritoneum, Urinary retention... ORPHA:2126
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss, Hemophagocytosis, Panniculitis ORPHA:86884
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Extrahepatic cholestasis, Skin rash, Steatorrhea, Abnorma... ORPHA:97280
Disorder Of Bile Acid Synthesis
Cholestasis, Biliary tract abnormality, Elevated hepatic transaminase, Fat malabsorption, Abnorma... ORPHA:79168
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology, Cleft palate ORPHA:398189
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d... ORPHA:158048
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Lymphopenia, Pyloric stenosis, Recurrent infe... OMIM:616395
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Micropenis, Hepatic failu... ORPHA:1655
Vipoma
Neoplasm of the pancreas, Malabsorption, Neoplasm of the liver, Hypokalemia, Hepatomegaly, Benign... ORPHA:97282
Goodpasture Syndrome
Cylindruria, Increased blood urea nitrogen, Macroscopic hematuria, Weight loss, Proteinuria, Rena... OMIM:233450
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillar PAS-positive secretory granules, Microvillus inclusions, Bronchiectasis OMIM:619445
Ileal Neuroendocrine Tumor
Extrahepatic cholestasis, Hepatic failure, Iron deficiency anemia, Gastrointestinal obstruction, ... ORPHA:100078
Jejunal Neuroendocrine Tumor
Extrahepatic cholestasis, Hepatic failure, Iron deficiency anemia, Gastrointestinal obstruction, ... ORPHA:100077
Inflammatory Bowel Disease 11
Weight loss, Inflammation of the large intestine, Hematochezia OMIM:191390
Somatostatinoma
Neoplasm of the pancreas, Gallbladder dysfunction, Hepatomegaly, Extrahepatic cholestasis, Steato... ORPHA:97283
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pan... ORPHA:456312
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... ORPHA:103907
Abetalipoproteinemia
Abetalipoproteinemia, Fat malabsorption, Acanthocytosis OMIM:200100
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Elevated circulating C-reactive protein concentration, Orchitis, Leukocytosis, Splenomegaly, Skin... ORPHA:32960
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Hyperbilirubinemia, Intestinal malrotation, Bi... OMIM:615710
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... ORPHA:309108
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Acute Adrenal Insufficiency
Failure to thrive, Normocytic anemia, Recurrent acute respiratory tract infection, Increased circ... ORPHA:95409
Hyper-Igd Syndrome
Chronic oral candidiasis, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Renal angiomyolipo... OMIM:260920
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Failure to thrive, Decreased circulat... OMIM:618278
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Malabsorption, Cachexia, Elevated circulating thymidine concentration, Dysphagia, ... OMIM:603041
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Neutropenia, Leukopenia, Aplastic anemia, Urethral stricture, Esophageal stric... OMIM:613989
Addison Disease
Failure to thrive, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Hashimoto ... ORPHA:85138
Spinocerebellar Ataxia 48
Dysphagia, Cachexia, Urinary incontinence OMIM:618093
Non-Functioning Paraganglioma
Elevated urinary dopamine, Hematuria, Weight loss, Hypercalcemia, Elevated urinary epinephrine, E... ORPHA:94080
Lujo Hemorrhagic Fever
Odynophagia, Facial edema, Lymphopenia, Leukocytosis, Elevated circulating C-reactive protein con... ORPHA:319213
Huntington Disease
Weight loss, Abnormal circulating cholesterol concentration, Decreased body mass index, Oral-phar... ORPHA:399
Familial Colorectal Cancer Type X
Neoplasm of the rectum, Neoplasm of the colon, Malabsorption, Neoplasm of the pancreas, Stomach c... ORPHA:440437
Juvenile Polyposis Syndrome
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Hematochezia, Gastro... ORPHA:2929
Ctcf-Related Neurodevelopmental Disorder
Failure to thrive, Gastroesophageal reflux, Cleft palate, Small for gestational age, Sepsis, Recu... ORPHA:363611
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Elevated alpha-fe... ORPHA:420741
Bullous Pemphigoid
Eczema, Weight loss, Recurrent infections, Psoriasiform dermatitis ORPHA:703
Autoinflammatory Disease, Systemic, X-Linked
Panuveitis, Osteomyelitis, Optic neuritis, Decreased circulating IgG level, Hepatosplenomegaly, D... OMIM:301081
Cap Polyposis
Atrophic gastritis, Weight loss, Colorectal polyposis, Hematochezia ORPHA:160148
Erythrokeratodermia Variabilis
Weight loss, Skin rash ORPHA:317
Inhalational Anthrax
Sepsis ORPHA:247257
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Abnormality of urine catecholamine level, Elevated urinary vanillylmandelic ac... OMIM:256700
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... ORPHA:14
Leukocyte Adhesion Deficiency Type Ii
Recurrent gastroenteritis, Keratitis, Failure to thrive, Narrow palate, Abnormal isohemagglutinin... ORPHA:99843
Isaacs Syndrome
Weight loss ORPHA:84142
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Hematuria, Proteinuria, Weight loss,... OMIM:219800
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Weight loss, Abnormal proportion of CD4-positive T cells ORPHA:133
Idiopathic Bronchiectasis
Cachexia, Acute infectious pneumonia, Recurrent lower respiratory tract infections, Recurrent Hae... ORPHA:60033
Trigonocephaly 1
Meckel diverticulum, Long penis OMIM:190440
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia, Aganglionic megacolon ORPHA:1438
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Corneal stromal edema, Hepatic fail... ORPHA:699
Attrv30M Amyloidosis
Weight loss, Nephropathy, Abnormal renal physiology ORPHA:85447
Gm1 Gangliosidosis
Failure to thrive, Gastroesophageal reflux, Macroglossia, Splenomegaly, Aspiration pneumonia, Hep... ORPHA:354
Pemphigus Vulgaris
Weight loss, Recurrent infections, Recurrent cutaneous abscess formation ORPHA:704
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the gastrointestinal ... ORPHA:1876
Renpenning Syndrome
Anal atresia, High, narrow palate, Cleft palate, Hypospadias, Cachexia ORPHA:3242
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Erysipelas, Rectal prolapse, Protein-losing enteropathy, Lymphedema, Periorbital e... OMIM:235510
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Recurrent bacterial infections, Hematur... OMIM:603903
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... ORPHA:3337
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss, Hyperlipoproteinemia, Abnormal circulating lipid concentration ORPHA:1979
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Nephroblastoma
Neoplasm of the liver, Weight loss, Hematuria ORPHA:654
Urachal Cyst
Dysuria, Elevated circulating C-reactive protein concentration, Leukocytosis, Peritonitis, Absces... ORPHA:488
Ppoma
Cholelithiasis, Neoplasm of the pancreas, Hepatomegaly, Extrahepatic cholestasis, Intestinal carc... ORPHA:97278
Marburg Hemorrhagic Fever
Odynophagia, Pancreatitis, Maculopapular exanthema, Elevated circulating creatinine concentration... ORPHA:99826
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Infection-Related Hemolytic Uremic Syndrome
Pancreatitis, Hyperkalemia, Myocarditis, Pneumonia, Decreased urine output, Generalized edema, Se... ORPHA:544482
Juvenile Dermatomyositis
Elevated circulating C-reactive protein concentration, Skin rash, Palpebral edema, Elevated circu... ORPHA:93672
Yellow Fever
Neutrophilia, Hematemesis, Leukocytosis, Hyperbilirubinemia, Skin rash, Pancreatic hyperplasia, E... ORPHA:99829
Huntington Disease-Like 2
Weight loss OMIM:606438
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Neutrophilia, Eczema, Erythroderma, Portal fibrosis, Joint swelling, Malabsorption,... ORPHA:3260
Zollinger-Ellison Syndrome
Jaundice, Extrahepatic cholestasis, Duodenal ulcer, Hematochezia, Intestinal obstruction, Peptic ... ORPHA:913
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Iridocyclitis, Oligoarthritis, Hepatosplenomegaly, Arthritis, Hip osteoarthritis,... ORPHA:85408
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Hy... OMIM:618213
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Facial edema, Polyhydramnios, Lymphedema, Protein-losing enteropathy, Edema OMIM:618154
Parathyroid Carcinoma
Nephrolithiasis, Hypophosphatemia, Pancreatitis, Hypercalciuria, Renal cyst, Peptic ulcer, Renal ... ORPHA:143
Malignant Atrophic Papulosis
Arteritis, Peritonitis, Gastrointestinal infarctions, Intestinal fistula, Weight loss, Pleural ef... ORPHA:679
Aredyld Syndrome
Cachexia, Abnormality of the ureter, Hepatomegaly, Splenomegaly ORPHA:1133
Loeffler Endocarditis
Eosinophilia, Weight loss, Pericarditis ORPHA:75566
Zygomycosis
Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Acute infectious pneumonia, ... ORPHA:73263
Ventilator-Induced Diaphragmatic Dysfunction
Sepsis ORPHA:505395
Lymphoid Interstitial Pneumonia
Failure to thrive, Hepatomegaly, Skin rash, Rheumatoid arthritis, Eczema, Enlarged kidney, Weight... ORPHA:79128
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Weight loss, Proteinuria, Hypercalcemia, Elevated urinary e... ORPHA:276621
X-Linked Creatine Transporter Deficiency
Ileus, Aganglionic megacolon, Cachexia, Abnormal circulating creatine concentration ORPHA:52503
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Hematuria, Hyperkalemia, Elevated circulating creat... ORPHA:340
Behçet Disease
Malabsorption, Optic neuritis, Pancreatitis, Orchitis, Splenomegaly, Endocarditis, Myositis, Kera... ORPHA:117
Harrod Syndrome
High palate, Failure to thrive, High, narrow palate, Hypospadias, Malrotation of small bowel, Pyl... OMIM:601095
Familial Glucocorticoid Deficiency
Failure to thrive, Recurrent urinary tract infections, Hypernatriuria, Recurrent infections, Hypo... ORPHA:361
Ethylene Glycol Poisoning
Renal tubular dysfunction, Hypocalcemia, Pulmonary edema, Gastritis, Hematuria, Renal insufficien... ORPHA:31826
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144