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Gene: Gbp2b MGI:95666

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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:
guanylate binding protein 2b
Synonyms:
Gbp-1,  Mpa-1,  Mpa1,  Mag-1,  Gbp1

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 Gbp2b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gbp2b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency OMIM:269650
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Failur... OMIM:614372
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu... OMIM:614102
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recu... OMIM:613501
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent bacterial ... OMIM:616022
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency 48
Recurrent respiratory infections, Diarrhea, Recurrent candida infections, Failure to thrive, Panh... OMIM:269840
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bac... OMIM:612692
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... OMIM:608106
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 15B
Chronic diarrhea, Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level,... OMIM:615592
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu... OMIM:614699
Lactose Intolerance, Adult Type
Flatulence, Diarrhea, Abdominal pain OMIM:223100
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Immunodeficiency 104
Recurrent opportunistic infections, Diarrhea, Chronic mucocutaneous candidiasis, Gastroesophageal... OMIM:608971
Immunodeficiency 19
Recurrent respiratory infections, Chronic diarrhea, Severe viral infection, Recurrent otitis medi... OMIM:615617
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic diarrhea, Sepsis, Decreased circulating antibody leve... OMIM:616740
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Recurrent respiratory infections, Mucoid diarrhea, Increased cir... OMIM:615767
Immunodeficiency, Common Variable, 2
Impaired T cell function, Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurren... OMIM:240500
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Feeding difficulties, Decreased... OMIM:620045
Hirschsprung Disease
Nausea and vomiting, Intestinal obstruction, Failure to thrive in infancy, Abdominal pain, Diarrh... ORPHA:388
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Reduced natural killer cell activity, Recurrent bacterial meningitis, Recurren... OMIM:300400
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Meningitis, Recurrent meningococcal disease OMIM:615561
Immunodeficiency 51
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... OMIM:613953
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Abnormal immunoglobulin level, Feeding difficulties in infancy, Invasive funga... ORPHA:98813
Rabies
Nausea and vomiting, Recurrent pharyngitis, Diarrhea, Anorexia ORPHA:770
Complement Component 4B Deficiency
Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Meningitis OMIM:614379
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent oppo... ORPHA:275
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Immunodeficiency, Common Variable, 1
Impaired T cell function, Diarrhea, Recurrent pneumonia, Decreased circulating total IgM, Recurre... OMIM:607594
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, Diarrhea, Panhypogammaglobulinemia, Failure to thrive seconda... OMIM:601457
Diarrhea 9
Diarrhea, Failure to thrive OMIM:618168
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Chronic ... OMIM:615207
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Anorexia, Diarrhea, Recurrent pneumonia, Recurrent candida infections, Recurren... ORPHA:169160
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Chronic ... OMIM:601495
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
Idiopathic Achalasia
Malnutrition, Gastroesophageal reflux, Dysphagia, Weight loss ORPHA:930
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... OMIM:193670
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Reticular Dysgenesis
Recurrent respiratory infections, Diarrhea, Sepsis, Weight loss, Decreased circulating antibody l... ORPHA:33355
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Increased circu... ORPHA:277
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Persistent CMV viremia, Dia... OMIM:618495
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Failure to thrive, Abnormal immunoglobulin... ORPHA:276
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... ORPHA:572
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Recurrent bacterial infections OMIM:245480
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Pemphigus Vulgaris
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss, Recurrent in... ORPHA:704
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Poor appetite, Weight loss, Gastroesophageal re... ORPHA:2198
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Vomiting OMIM:606528
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circul... OMIM:308230
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Vomiting, Failure to th... OMIM:616069
Mantle Cell Lymphoma
Anorexia, Weight loss ORPHA:52416
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Chronic diarrhea, Failure to thrive, Increased circulating antibody level, Recurrent infections OMIM:615285
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Meningitis... ORPHA:83471
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Gastritis, Diarrhea, Decreased circulating antibody level, Infl... OMIM:618108
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Isolated Congenital Hypoglossia/Aglossia
Gastrostomy tube feeding in infancy, Nasogastric tube feeding in infancy, Feeding difficulties, W... ORPHA:141152
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... OMIM:614868
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific antibo... OMIM:617765
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Abdominal distention, Gastrointestinal d... OMIM:613662
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilic infiltration of the esophagus, Recurrent viral i... OMIM:243700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Recurre... OMIM:614069
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Chronic diarrhea, Ulcerative colitis, Severe cytomegalovirus inf... OMIM:617638
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Chronic diarrhea,... OMIM:619281
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Small for gestational age OMIM:613217
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Failure to thrive OMIM:619693
Tuberculosis
Weight loss ORPHA:3389
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Diarrhea ORPHA:231
Solitary Rectal Ulcer Syndrome
Abdominal pain, Episodic abdominal pain, Hematochezia, Chronic constipation, Tenesmus, Bloody dia... ORPHA:209964
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Immunodeficiency 25
Recurrent herpes, Increased circulating IgA level, Increased circulating IgE level, Recurrent pne... OMIM:610163
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive, Recurrent infections OMIM:228600
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Recurrent infections OMIM:229050
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Recurrent pneumonia, Chronic diarrhea, Recurrent infections, Agammaglobulinemi... OMIM:619824
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... ORPHA:911
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections, Chronic decreased circulating t... OMIM:613496
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive OMIM:612075
Immunodeficiency 7
Recurrent respiratory infections, Severe varicella zoster infection, Diarrhea, Persistent EBV vir... OMIM:615387
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Failure to thrive, Vomiting, Diarrhea OMIM:615863
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... OMIM:619446
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Recurrent viral infections, Decreased circulating antibody level, Protracted d... ORPHA:331206
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... ORPHA:2688
Diarrhea 13
Failure to thrive, Secretory diarrhea, Vomiting OMIM:620357
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level ORPHA:169079
Erythroderma Desquamativum
Diarrhea, Failure to thrive ORPHA:314
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Chronic diarrhea, Persisten... OMIM:616005
Pfapa Syndrome
Nausea and vomiting, Abdominal pain, Recurrent pharyngitis, Weight loss, Infectious encephalitis ORPHA:42642
Immunodeficiency 69
BCGosis, Failure to thrive, Diarrhea OMIM:618963
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Brunner Syndrome
Diarrhea OMIM:300615
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections, Absent isohemagglutinin level, Recurr... OMIM:615468
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Chronic d... OMIM:242700
Hereditary Folate Malabsorption
Nausea and vomiting, Recurrent respiratory infections, Recurrent urinary tract infections, Anorex... ORPHA:90045
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation ORPHA:168816
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media, Failure to t... OMIM:617475
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Galactose Epimerase Deficiency
Nausea and vomiting, Feeding difficulties, Weight loss ORPHA:79238
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Cog7-Cdg
Small for gestational age, Diarrhea, Feeding difficulties, Recurrent infections, Failure to thrive ORPHA:79333
Immunodeficiency 22
Failure to thrive, Diarrhea, Recurrent upper respiratory tract infections, Protracted diarrhea, D... OMIM:615758
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Failure to thrive, Steatorrhea OMIM:613291
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain OMIM:222900
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Failure to thrive in infancy, Chronic diarrhea, Persistent EBV ... OMIM:619510
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Obesity, Feeding difficulties OMIM:620270
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Recurrent respiratory infections, Feeding difficulties in infancy, Diarrhea, Vomiting, Failure to... OMIM:264350
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Attrv30M Amyloidosis
Diarrhea, Constipation, Weight loss ORPHA:85447
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Meningitis, Recurrent upper respiratory tract infections, Chronic diarrhe... OMIM:600802
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Weight loss ORPHA:103910
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Abdominal pain OMIM:620137
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic diarrh... OMIM:116920
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Diarrhea, Recurrent upper respiratory tract infections, Sepsis, Decreased cir... OMIM:616100
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Anorexia, Weight loss ORPHA:100083
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... ORPHA:331235
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Failure to thrive in infancy, Recurrent viral infections, Sever... OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Recurrent viral infections, Increased circulating IgA level, Increased circulati... ORPHA:169154
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Diarrhea, Sepsis, Failur... ORPHA:229717
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Recurrent aphthous stomatitis, Recurrent... OMIM:613960
Chylomicron Retention Disease
Diarrhea, Malnutrition, Vomiting, Steatorrhea, Failure to thrive OMIM:246700
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Chronic diarrhea, Ulcerative colitis, Decreased circulating t... OMIM:618394
Coproporphyria, Hereditary
Constipation, Vomiting, Diarrhea, Abdominal pain OMIM:121300
Immunodeficiency 76
Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis OMIM:619164
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa... ORPHA:35710
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Increased circulating IgA level, Increased circulating IgG level, Rec... OMIM:618048
Neuroendocrine Tumor Of The Rectum
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Weight loss, Hema... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Weight loss, Hema... ORPHA:100082
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... OMIM:615237
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Diarrhea, Recurrent pneumonia, Recurrent infections, Recurrent aphthous stomatitis, Chronic oral ... OMIM:150550
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Sepsis, Enterocolitis... ORPHA:95427
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Diarrhea, Sepsis, Recurrent infections, Agammaglobulinemia, Fai... ORPHA:33110
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Abdomin... ORPHA:486
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Failure to thrive, Chronic diarrhea OMIM:606824
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Chronic g... ORPHA:183675
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Increased circulating IgE level, Recurrent pneumonia, Chronic... OMIM:147060
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss ORPHA:411593
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Failure to thrive, Recurrent viral infections, Diarrhea, Incre... OMIM:102700
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... ORPHA:411703
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss ORPHA:168811
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level, Chroni... OMIM:618523
Omenn Syndrome
Recurrent viral infections, Diarrhea, Recurrent bacterial infections, Recurrent fungal infections... OMIM:603554
Lactase Deficiency, Congenital
Diarrhea OMIM:223000
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Impaired T cell function, Recurrent viral infections, Recurre... OMIM:613179
Bullous Pemphigoid
Weight loss, Recurrent infections ORPHA:703
Congenital Disorder Of Glycosylation, Type Iij
Recurrent respiratory infections, Chronic diarrhea, Feeding difficulties, Hepatic failure, Failur... OMIM:613489
Glutaric Aciduria Iii
Diarrhea, Failure to thrive, Vomiting OMIM:231690
Immunodeficiency 9
Chronic diarrhea, BCGitis, Recurrent infections, Recurrent aphthous stomatitis, Stomatitis, Failu... OMIM:612782
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity, Feeding difficulties in infancy, Secretory diarrhea, Entero... OMIM:616050
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent pneumonia, Chronic diarrhea, Sepsis, Weight loss... ORPHA:47
Sandhoff Disease, Juvenile Form
Diarrhea, Failure to thrive, Constipation, Dysphagia ORPHA:309162
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Diarrhea, Recurrent upper respiratory tract infections, Sepsis, Recurrent can... ORPHA:436159
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Poor appetite, Cachexia, Abdominal pain, Abdominal distention, Gast... ORPHA:298
Neuroendocrine Tumor Of The Colon
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Weight loss, Prot... ORPHA:100080
Immunodeficiency 40
Severe varicella zoster infection, Recurrent pneumonia, Chronic diarrhea, Reduced antigen-specifi... OMIM:616433
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss ORPHA:65682
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Recurrent respiratory infec... OMIM:618131
Immunodeficiency 17
Recurrent respiratory infections, Chronic diarrhea, Chronic decreased cirulating IgG2, Recurrent ... OMIM:615607
Immunodeficiency 27A
Anorexia, Diarrhea, Weight loss, Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Idiopathic Bronchiectasis
Cachexia, Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233710
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Sepsis, Melena, Increased c... ORPHA:319218
Trichohepatoenteric Syndrome 2
Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis, Failure to thrive OMIM:614602
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Failure to thrive in infancy, Recurrent viral infections, Parti... ORPHA:35078
Huntington Disease-Like 2
Weight loss ORPHA:98934
Intellectual Developmental Disorder, Autosomal Dominant 51
Chronic diarrhea, Feeding difficulties, Chronic constipation, Recurrent otitis media, Failure to ... OMIM:617788
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Liposarcoma
Nausea and vomiting, Abdominal pain, Weight loss ORPHA:69078
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Gastrointestinal dysmotil... OMIM:603041
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Esophagitis OMIM:619079
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea OMIM:251850
Isaacs Syndrome
Weight loss ORPHA:84142
Eosinophilic Gastroenteritis
Abdominal pain, Diarrhea, Dysphagia, Weight loss, Hematochezia, Vomiting, Steatorrhea ORPHA:2070
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233690
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Increased hepatitis B virus antibody level, Abdominal distention, Weight loss, Vo... ORPHA:90003
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Ch... OMIM:300755
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abdominal pain, Diarrhea, Weight loss ORPHA:54251
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties OMIM:619971
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Recurrent respiratory infections, Diarrhea, Weight loss, Failure to thrive ORPHA:1842
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Cog4-Cdg
Neonatal sepsis, Fatal liver failure in infancy, Failure to thrive in infancy, Recurrent upper re... ORPHA:263501
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... OMIM:610984
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting ORPHA:677
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Cachexia ORPHA:1389
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Autoinflammatory-Pancytopenia Syndrome
Chronic diarrhea, Failure to thrive, Intestinal inflammation, Severe Epstein Barr virus infection OMIM:619858
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... ORPHA:169090
Follicular Lymphoma
Meningitis, Weight loss ORPHA:545
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Mulibrey Nanism
Cachexia ORPHA:2576
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Recurrent respiratory infections, Diarrhea ORPHA:90035
Primary Intestinal Lymphangiectasia
Abdominal pain, Cryptococcal meningitis, Chronic diarrhea, Functional abnormality of the gastroin... ORPHA:90362
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Poor appetite, Diarrhea, Recurrent infections, Dysphagia, Nausea ORPHA:352447
Kaposi Sarcoma
Recurrent herpes, Diarrhea, Weight loss ORPHA:33276
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss ORPHA:100024
Mast Cell Sarcoma
Mastocytosis, Weight loss ORPHA:66661
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting OMIM:619445
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Recurrent enteroviral infections, Failure to thrive in infancy,... ORPHA:79124
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Feeding difficulties in infancy, Recurrent tonsillitis, Weight loss... ORPHA:171876
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Abdominal pain, Diarrhea, Recurrent infections, Decreased circulating ant... OMIM:226300
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Poor appetite, Anorexia, Bowel urgency, Hematemesis, Lack of bowel sounds, B... ORPHA:100075
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Failure to thrive, Vomiting, Nasogastric tube feeding ORPHA:289504
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Failure to ... ORPHA:927
Immunodeficiency 23
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... OMIM:615816
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Abdominal pain, Diarrhea,... OMIM:619802
Familial Glucocorticoid Deficiency
Recurrent urinary tract infections, Anorexia, Diarrhea, Weight loss, Recurrent infections, Episod... ORPHA:361
Acquired Hypertrichosis Lanuginosa
Chronic diarrhea, Poor appetite, Weight loss ORPHA:2221
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Poor appetite, Diarrhea, Recurrent candida infections, Failure to thrive OMIM:201100
Immunodeficiency 92
Recurrent oral herpes, Persistent CMV viremia, BCGosis, Chronic diarrhea, Esophagitis, Partial ab... OMIM:619652
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent ear infections, Recurrent... ORPHA:221139
Typhoid
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Constipation, Infectious encephalitis ORPHA:99745
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Failure to thrive, Vomiting, Feeding difficulties OMIM:177735
Hypercalcemia, Infantile, 1
Failure to thrive, Vomiting, Weight loss OMIM:143880
Necrotizing Enterocolitis
Neonatal sepsis, Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody d... ORPHA:391673
Congenital-Onset Steinert Myotonic Dystrophy
Abdominal pain, Encopresis, Diarrhea, Obesity, Dysphagia, Gastroesophageal reflux, Constipation, ... ORPHA:589821
Pgm3-Cdg
Recurrent respiratory infections, Increased circulating IgA level, Recurrent viral infections, In... ORPHA:443811
Lassa Fever
Nausea and vomiting, Abdominal pain, Diarrhea, Sepsis, Increased circulating IgM level, Dysphagia ORPHA:99824
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver function, Failure to thrive ORPHA:79319
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Cachexia, Abdominal pain, Abdominal distention, Ileus, Weight loss ORPHA:83469
Pyomyositis
Recurrent cutaneous abscess formation, Weight loss, Sepsis, Recurrent infections ORPHA:764
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Abdominal pain, Increased circulating IgA level, Diarrhea, Chronic ... OMIM:617099
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... ORPHA:67
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Failure to thrive, Atrophic gastritis, Recurrent pneumonia, Chr... OMIM:614700
Alg1-Cdg
Chronic diarrhea, Sepsis, Decreased liver function, Recurrent infections ORPHA:79327
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Felty Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent pharyngitis, Recu... ORPHA:47612
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Bile Acid Synthesis Defect, Congenital, 2
Diarrhea, Failure to thrive, Hepatic failure, Steatorrhea OMIM:235555
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea, Weight loss, Increased proportio... ORPHA:98850
Yao Syndrome
Abdominal pain, Diarrhea, Xerostomia, Weight loss OMIM:617321
Immunodeficiency 47
Decreased circulating total IgG, Chronic diarrhea, Decreased circulating antibody level, Recurren... OMIM:300972
Classic Hodgkin Lymphoma
Poor appetite, Bone marrow hypocellularity, Anorexia, Weight loss ORPHA:391
Cholesteryl Ester Storage Disease
Nausea and vomiting, Diarrhea, Hepatic failure ORPHA:75234
Wiskott-Aldrich Syndrome
Recurrent herpes, Reduced natural killer cell activity, Increased circulating IgA level, Hemateme... OMIM:301000
Congenital Toxoplasmosis
Diarrhea, Failure to thrive in infancy ORPHA:858
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, BCGosis, Recurrent pneumonia, Severe viral infection, Extrapulmonary tuber... OMIM:619644
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Increased circulating IgE level, Sepsis, BCGitis, C... OMIM:602450
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Abdominal pain, Anorexia, Diarrhea, Xerostomia, Hematochezia, Vomiting OMIM:175500
Congenital Tufting Enteropathy
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Weight loss, Vomiting, Steatorrhea, F... ORPHA:92050
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Recurrent respiratory infections, Bone marrow hypocellularity, Weight loss ORPHA:3226
Autosomal Dominant Epidermolytic Ichthyosis
Poor appetite, Weight loss ORPHA:312
Wolman Disease
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Steatorrhea, Hepatic failure ORPHA:75233
Mirage Syndrome
Recurrent urinary tract infections, Chronic diarrhea, Sepsis, Recurrent bacterial infections, Gas... OMIM:617053
Enteric Anendocrinosis
Diarrhea, Vomiting ORPHA:83620
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Increased circulating IgE level, Bloody diarrhea OMIM:614328
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Postinfectious Vasculitis
Persistent human papillomavirus infection, Increased circulating IgA level, Anorexia, Severe vari... ORPHA:48435
Malt Lymphoma
Nausea and vomiting, Recurrent respiratory infections, Abdominal pain, Weight loss, Constipation ORPHA:52417
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia, Weight loss ORPHA:1332
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Rhabdoid Tumor
Nausea and vomiting, Abdominal pain, Poor appetite, Weight loss ORPHA:69077
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Nausea, Recurrent infections OMIM:615084
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Hyper-Igd Syndrome
Increased circulating IgA level, Abdominal pain, Diarrhea, Chronic diarrhea, Recurrent infections... OMIM:260920
Igg4-Related Aortitis
Intestinal obstruction, Increased circulating IgG4 level, Abdominal pain, Increased circulating I... ORPHA:449400
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Weight loss, Dysphagia ORPHA:97286
Immunodeficiency 31C
Recurrent respiratory infections, Diarrhea, Coccidioidomycosis, Chronic mucocutaneous candidiasis... OMIM:614162
Infantile Systemic Hyalinosis
Chronic diarrhea, Feeding difficulties, Recurrent bacterial infections, Steatorrhea, Failure to t... ORPHA:2176
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Chronic gastritis, Abdominal pain, Diarrhea, Weight loss, Chron... OMIM:301074
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Moynahan Syndrome
Cachexia ORPHA:2574
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Abdominal pain, Diarrhea, Recurrent bacterial infections, Meningitis ORPHA:36412
Pleural Mesothelioma
Dysphagia, Weight loss ORPHA:50251
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Diarrhea, Decreased circulating total IgM, Vomiting, Failure to ... OMIM:275350
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Recurrent respiratory infections, Diarrhea, Gastritis ORPHA:2575
Wild Type Attr Amyloidosis
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Intermittent dia... ORPHA:330001
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:1267
Sepsis In Premature Infants
Neonatal sepsis, Disseminated viral infection, Small for gestational age, Abdominal distention, S... ORPHA:90051
Oculopharyngodistal Myopathy
Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia, Weight loss ORPHA:98897
Good Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Diarrhea, Decreased circula... ORPHA:169105
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive ORPHA:51188
Galactosemia I
Diarrhea, Failure to thrive, Vomiting, Decreased liver function OMIM:230400
Radiation Proctitis
Intestinal obstruction, Diarrhea, Sepsis, Tenesmus, Hematochezia ORPHA:70475
Huntington Disease-Like 2
Weight loss OMIM:606438
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea ORPHA:29822
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Abdominal pain, Chronic diarrhea, Hematochezia, Recurrent bacterial infections, Inflammation of t... OMIM:615895
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Immunodeficiency 21
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... OMIM:614172
Cronkhite-Canada Syndrome
Abdominal pain, Diarrhea, Cachexia, Anorexia ORPHA:2930
Pneumocystosis
Weight loss, Pneumocystis jirovecii pneumonia, Increased circulating antibody level, Chronic oral... ORPHA:723
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Diarrhea, Vomiting, Decreased liver function, Cachexia ORPHA:42
Classic Galactosemia
Diarrhea, Sepsis, Feeding difficulties, Vomiting, Hepatic failure ORPHA:79239
Vascular Hyalinosis
Hematochezia, Diarrhea OMIM:277175
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:228371
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Increased circulating IgA le... ORPHA:343
Pelizaeus-Merzbacher Disease
Recurrent respiratory infections, Bowel incontinence, Failure to thrive in infancy, Cachexia ORPHA:702
Graft Versus Host Disease
Abdominal pain, Diarrhea, Gastrointestinal inflammation, Recurrent infections, Vomiting, Recurren... ORPHA:39812
Congenital Disorder Of Glycosylation, Type Ii
Nasogastric tube feeding, Diarrhea, Gastroesophageal reflux, Decreased body weight OMIM:607906
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Diarrhea, Failure to thrive, Decreased circulating IgA level OMIM:242860
Boutonneuse Fever
Abdominal pain, Diarrhea, Increased circulating IgG level, Increased circulating IgM level, Nausea ORPHA:83313
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:306400
Focal Myositis
Weight loss ORPHA:48918
Familial Pancreatic Carcinoma
Nausea and vomiting, Functional intestinal obstruction, Intestinal pseudo-obstruction, Poor appet... ORPHA:1333
Celiac Disease, Susceptibility To, 1
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting, Recurrent aphthous stomati... OMIM:212750
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... ORPHA:586
Cutaneous Mastocytoma
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79455
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation, Recurrent pneumo... OMIM:608233
Porphyria Due To Ala Dehydratase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic vomiting, Nausea ORPHA:100924
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Rapadilino Syndrome
Diarrhea, Feeding difficulties OMIM:266280
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Severe infection, Increased circulating IgE level, Chronic diarrhea, Ileus, Failure to thrive OMIM:304790
Encephalopathy, Ethylmalonic
Chronic diarrhea, Failure to thrive, Feeding difficulties OMIM:602473
Blue Diaper Syndrome
Diarrhea, Increased body weight ORPHA:94086
Proprotein Convertase 1/3 Deficiency
Diarrhea, Obesity OMIM:600955
Legionnaires Disease
Nausea and vomiting, Anorexia, Abdominal pain, Recurrent pharyngitis, Diarrhea, Sepsis, Bone marr... ORPHA:549
Riddle Syndrome
Recurrent viral infections, Abdominal pain, Diarrhea, Recurrent pneumonia, Weight loss, Decreased... ORPHA:420741
Fatal Familial Insomnia
Constipation, Dysphagia, Weight loss OMIM:600072
Congenital Disorder Of Glycosylation, Type Ib
Diarrhea, Steatorrhea, Vomiting, Hepatic failure, Failure to thrive OMIM:602579
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Christianson Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia ORPHA:85278
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Failure to thrive ORPHA:71
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Diarrhea, Vomiting, Decreased liver function, Failure to thrive OMIM:608104
American Trypanosomiasis
Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia, Infectious encephalitis ORPHA:3386
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Recurrent pneumonia, Bloody diarrhea, Recurrent infections, Hematochezia, Inflammation of the lar... OMIM:617718
Thrombotic Thrombocytopenic Purpura
Diarrhea, Abdominal pain ORPHA:54057
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea, Failure to thrive OMIM:619484
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Abdominal pain, Perit... ORPHA:131
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Nausea OMIM:176000
Mevalonic Aciduria
Failure to thrive in infancy, Increased circulating IgD level, Diarrhea, Recurrent infections, Vo... OMIM:610377
Leishmaniasis
Increased circulating antibody level, Anorexia, Weight loss ORPHA:507
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Anorexia ORPHA:49827
Congenital Disorder Of Glycosylation, Type Id
Diarrhea, Failure to thrive, Vomiting OMIM:601110
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties OMIM:616801
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Failure to thrive, Vomiting OMIM:560000
Neuroblastoma, Susceptibility To, 1
Abdominal pain, Diarrhea, Failure to thrive, Weight loss OMIM:256700
Carnitine Deficiency, Systemic Primary
Diarrhea, Failure to thrive, Vomiting OMIM:212140
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Chronic diarrhea, Decreased specific anti-polysaccharide antibody level... OMIM:614576
Adiposis Dolorosa
Constipation, Xerostomia, Obesity, Diarrhea ORPHA:36397
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Chronic diarrhea, Steatorrhea ORPHA:309108
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Failure to thrive OMIM:601847
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Sepsis, Weight loss, Constipation, Failu... ORPHA:199299
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Recurrent respiratory infections, Hypoperistalsis, Weight loss, Gastroesophageal reflu... ORPHA:1018
Shigellosis
Failure to thrive in infancy, Anorexia, Abdominal pain, Peritonitis, Sepsis, Ulcerative colitis, ... ORPHA:810
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea, Failure to thrive in infancy OMIM:618805
Bile Acid Synthesis Defect, Congenital, 1
Diarrhea, Failure to thrive, Hepatic failure, Steatorrhea OMIM:607765
Nephroblastoma
Abdominal pain, Weight loss ORPHA:654
Juvenile Huntington Disease
Weight loss ORPHA:248111
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive, Recurrent v... OMIM:242840
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention, Cachexia ORPHA:1876
Hyperprolinemia Type 2
Diarrhea, Feeding difficulties, Dysphagia, Abdominal pain ORPHA:79101
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Weight ... ORPHA:85450
Alg8-Cdg
Small for gestational age, Diarrhea, Feeding difficulties, Vomiting, Failure to thrive ORPHA:79325
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Chronic decreased circulating IgG1, Recurrent infections OMIM:300953
Shwachman-Diamond Syndrome 2
Diarrhea, Recurrent infections, Steatorrhea, Failure to thrive, Exocrine pancreatic insufficiency OMIM:617941
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritabilit... OMIM:619381
Mucopolysaccharidosis, Type Iiib
Diarrhea, Recurrent upper respiratory tract infections OMIM:252920
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Small for gestational age, Weight loss ORPHA:424
Perry Syndrome
Weight loss ORPHA:178509
Ppoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97278
Stevens-Johnson Syndrome
Acute hepatic failure, Recurrent respiratory infections, Nausea and vomiting, Gastrointestinal he... ORPHA:36426
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea, Failure to thrive OMIM:211600
Non-Functioning Paraganglioma
Episodic abdominal pain, Nausea, Weight loss ORPHA:94080
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Feeding difficulties in infancy, Diarrhea, Constipation, ... OMIM:223900
Systemic Capillary Leak Syndrome
Abdominal pain, Diarrhea, Weight loss ORPHA:188
Mucopolysaccharidosis, Type Iiia
Diarrhea, Recurrent upper respiratory tract infections OMIM:252900
Bacterial Toxic-Shock Syndrome
Recurrent urinary tract infections, Abdominal pain, Severe varicella zoster infection, Meningitis... ORPHA:36234
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Recurrent viral infecti... OMIM:619573
Methanol Poisoning
Diarrhea, Vomiting, Abdominal pain ORPHA:31825
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Anorexia, Weight loss ORPHA:79242
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Failure to thrive in infancy, Gastritis, Cachexia, Increased ci... ORPHA:37042
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea OMIM:300215
Bile Acid Synthesis Defect, Congenital, 3
Diarrhea, Hepatic failure, Hematochezia, Steatorrhea, Failure to thrive OMIM:613812
Whipple Disease
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, Anorexia, Diarrhea, Infectious encephalitis ORPHA:3452
B4Galt1-Cdg
Diarrhea, Small for gestational age ORPHA:79332
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis, Recurrent pneumonia, Failure to thrive in infancy OMIM:301220
Polymyositis
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Weight loss, Constipation, Gastroesophagea... ORPHA:732
Bronchial Neuroendocrine Tumor
Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Weight loss, Hepatic failure ORPHA:97287
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr... ORPHA:309031
Nk-Cell Enteropathy
Abdominal pain, Diarrhea, Hematochezia, Constipation, Gastroesophageal reflux ORPHA:263665
Cystic Echinococcosis
Abdominal symptom, Invasive parasitic infection, Unusual infection, Weight loss, Increased circul... ORPHA:400
Huntington Disease
Oral-pharyngeal dysphagia, Decreased body mass index, Weight loss ORPHA:399
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Takayasu Arteritis
Gastrointestinal infarctions, Anorexia, Weight loss ORPHA:3287
Avian Influenza
Abdominal pain, Diarrhea, Sepsis, Vomiting, Meningitis, Infectious encephalitis ORPHA:454836
Congenital Myopathy 20
Chronic diarrhea, Failure to thrive OMIM:620310
Reactive Arthritis
Recurrent urinary tract infections, Abdominal pain, Diarrhea, Weight loss, Inflammation of the la... ORPHA:29207
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Abdominal pain, Secretory diarrhea, Weight loss, Failure to th... OMIM:619377
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Decreased circulating ... ORPHA:51636
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Failure to thrive in infancy, Gastrostomy tube feeding in infan... OMIM:613385
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Cachexia, Steatorrhea ORPHA:3217
Tropical Pancreatitis
Malnutrition, Vomiting, Nausea, Weight loss ORPHA:103918
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Abdominal pain, Weight loss ORPHA:33577
Mucopolysaccharidosis, Type Iiic
Diarrhea, Recurrent upper respiratory tract infections, Dysphagia OMIM:252930
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent staphylococcal i... ORPHA:167
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Increased body weight, Recurrent infections, Vomiting, Failure to thrive, Nausea ORPHA:264580
Snakebite Envenomation
Pseudobulbar paralysis, Neuromuscular dysphagia, Vomiting, Diarrhea ORPHA:449285
Isolated Succinate-Coq Reductase Deficiency
Feeding difficulties in infancy, Weight loss ORPHA:3208
Polyarteritis Nodosa
Abdominal pain, Weight loss ORPHA:767
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting ORPHA:79456
Refractory Celiac Disease
Abdominal pain, Chronic diarrhea, Malnutrition, Weight loss ORPHA:398063
Aa Amyloidosis
Abdominal pain, Chronic diarrhea, Malnutrition, Vomiting, Nausea ORPHA:85445
Imerslund-Gräsbeck Syndrome
Poor appetite, Weight loss, Constipation, Vomiting, Failure to thrive ORPHA:35858
Cholesteryl Ester Storage Disease
Acute hepatic failure, Diarrhea, Hepatic failure, Vomiting, Protuberant abdomen, Steatorrhea, Fai... OMIM:278000
Acute Adrenal Insufficiency
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Weight loss, Constipation, Recurrent acu... ORPHA:95409
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Intestinal obstruction, Enterocolitis, Bloody diarrhea, Agammag... OMIM:243150
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Cold Agglutinin Disease
Nausea and vomiting, Diarrhea ORPHA:56425
Omenn Syndrome
Chronic diarrhea, Failure to thrive, Sepsis ORPHA:39041
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... ORPHA:371364
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Diarrhea, Increased body weight, Recurrent infections, Vomiting, Nausea ORPHA:79240
Microsporidiosis
Brain abscess, Cachexia, Anorexia, Abdominal pain, Peritonitis, Chronic diarrhea, Sepsis, Weight ... ORPHA:2552
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Cachexia, Abdominal pain, Abdominal distenti... ORPHA:275761
Acute Promyelocytic Leukemia
Anorexia, Abdominal pain, Chronic infection, Weight loss, Stomatitis ORPHA:520
Dengue Fever
Nausea and vomiting, Diarrhea, Gastrointestinal hemorrhage, Abdominal pain ORPHA:99828
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Diarrhea, Vomiting, Increased body weight, Large for gestational age ORPHA:263455
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Infantile Krabbe Disease
Cachexia, Nasogastric tube feeding in infancy, Recurrent infections, Feeding difficulties, Vomiti... ORPHA:206436
Somatostatinoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97283
Gm1 Gangliosidosis
Recurrent respiratory infections, Feeding difficulties, Weight loss, Gastroesophageal reflux, Dys... ORPHA:354
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting OMIM:142680
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Failure to thrive, Abdominal pain OMIM:174900
Mcdonough Syndrome
Cachexia ORPHA:2471
Familial Hypoaldosteronism
Nausea and vomiting, Diarrhea, Failure to thrive, Feeding difficulties ORPHA:427
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Feeding difficulties, Weight loss ORPHA:221098
Ileal Neuroendocrine Tumor
Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abdominal pain, Weight ... ORPHA:100078
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Failure to thrive, Cachexia, Feeding difficulties ORPHA:217346
Rat-Bite Fever
Diarrhea, Sepsis, Weight loss, Vomiting, Meningitis, Parotitis ORPHA:31205
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ... OMIM:612541
Klatskin Tumor
Abdominal pain, Weight loss ORPHA:99978
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Recurrent otitis media... OMIM:620233
Familial Mediterranean Fever
Abdominal pain, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic constipation, Vomiting, C... OMIM:249100
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Weight loss, Nausea ORPHA:100085
Dpm1-Cdg
Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy ORPHA:79322
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Severe cytomegalovirus infection, Diarrhea OMIM:619313
Acrodermatitis Enteropathica
Poor appetite, Anorexia, Chronic diarrhea, Weight loss, Failure to thrive ORPHA:37
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... ORPHA:469
Glucagonoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97280
Grfoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97261
X-Linked Creatine Transporter Deficiency
Ileus, Constipation, Cachexia ORPHA:52503
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Gallbladder Neuroendocrine Tumor
Anorexia, Abdominal distention, Episodic abdominal pain, Weight loss, Nausea ORPHA:100086
Osteosarcoma
Weight loss ORPHA:668
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Weight loss ORPHA:216866
Shwachman-Diamond Syndrome
Recurrent viral infections, Malnutrition, Sepsis, Steatorrhea, Recurrent bacterial infections, Bo... ORPHA:811
Anaplastic Thyroid Carcinoma
Dysphagia, Weight loss ORPHA:142
Leukocyte Adhesion Deficiency Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Small for gestational age, Re... ORPHA:99843
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Wilson Disease
Acute hepatic failure, Failure to thrive, Increased body weight, Weight loss ORPHA:905
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Failure to thrive, Vomiting OMIM:610768
Thymic Carcinoma
Weight loss ORPHA:99868
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Anorexia, Diarrhea, Recurrent infections, Monoclonal immunoglobulin ... ORPHA:33226
Leukocyte Adhesion Deficiency
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent staphylococcal infections... ORPHA:2968
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Middle Ear Neuroendocrine Tumor
Chronic diarrhea ORPHA:100084
Huntington Disease-Like 1
Weight loss ORPHA:157941
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Abdominal pain, Severe infection, Diarrhea, Secretory diarrhea, Severe viral infec... ORPHA:544482
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Chronic diarrhea, Recurrent infections, Decrea... OMIM:601675
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Recurrent respiratory infections, Diarrhea, Recurrent infections... OMIM:618278
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematemesis, Diarrhea, Bloody diarrhea, Weight loss, Hematochezia, Feeding di... OMIM:615846
Giant Cell Arteritis
Anorexia, Abdominal pain, Recurrent pharyngitis, Weight loss, Gastrointestinal infarctions, Hepat... ORPHA:397
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Feeding difficulties OMIM:255120
Oromandibular Dystonia
Dysphagia, Weight loss ORPHA:93958
Cystic Fibrosis
Meconium ileus, Recurrent bronchopulmonary infections, Diarrhea, Recurrent pneumonia, Ileus, Stea... OMIM:219700
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG... ORPHA:91139
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss ORPHA:1302
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Car T Cell Therapy-Associated Cytokine Release Syndrome
Diarrhea, Vomiting, Nausea, Poor appetite ORPHA:542323
Beta-Ketothiolase Deficiency
Diarrhea, Vomiting, Anorexia, Weight loss ORPHA:134
Immunodeficiency 55
Diarrhea, Recurrent infections OMIM:617827
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Functional intestinal obstruction, Mechanical ileus, Bowel ... ORPHA:100079
Sickle Cell Disease
Recurrent bacterial infections, Abdominal pain OMIM:603903
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Weight loss ORPHA:2902
Toxic Epidermal Necrolysis
Acute hepatic failure, Recurrent respiratory infections, Nausea and vomiting, Gastrointestinal he... ORPHA:537
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Vomiting, Failure to thrive ORPHA:71212
Chromomycosis
Recurrent bacterial infections ORPHA:182
Young-Onset Parkinson Disease
Diarrhea, Constipation, Nausea, Gastroparesis ORPHA:2828
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Abdominal colic, Intestinal obstruction, Chronic diarrhea, Recu... ORPHA:90363
Neuropathy, Hereditary Sensory And Autonomic, Type V
Diarrhea, Constipation OMIM:608654
Satoyoshi Syndrome
Diarrhea OMIM:600705
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Poor appetite, Weight loss ORPHA:324964
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Ataxia-Telangiectasia
Decreased circulating IgG level, Failure to thrive, Recurrent bronchitis, Chronic diarrhea, Recur... OMIM:208900
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Rett Syndrome
Constipation, Gastroesophageal reflux, Cachexia OMIM:312750
Malignant Atrophic Papulosis
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Peritonitis, Weight loss, Gastr... ORPHA:679
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Feeding difficulties in infancy, Diarrhea, Vomiting, Steatorrhea... OMIM:212065
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abdominal pain, Diarrhea, Weight loss, Abnormal mast cell morphology, Nausea ORPHA:98849
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Dysgammaglobulinemia, Diarrhea, Recurrent pneumonia, Recurren... OMIM:251260
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Diarrhea, Atrophic gastritis, Chronic mucocutaneous candidiasis, Chronic oral candidiasis OMIM:240300
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Failure to thrive, Recurrent infection of the gastrointestinal ... OMIM:612132
Lysinuric Protein Intolerance
Diarrhea, Hepatic failure, Decreased circulating antibody level, Feeding difficulties, Recurrent ... ORPHA:470
Fabry Disease
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea OMIM:301500
Mucopolysaccharidosis, Type Ii
Recurrent otitis media, Diarrhea, Recurrent pneumonia, Intestinal pseudo-obstruction OMIM:309900
Pediatric-Onset Graves Disease
Nausea and vomiting, Diarrhea, Failure to thrive ORPHA:525731
Chronic Beryllium Disease
Weight loss ORPHA:133
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Feeding difficulties, Constipation, Intermittent diarrhea, Failure to thrive OMIM:618050
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea OMIM:619849
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Obesity, Feeding difficulties, Gastroesophageal reflux, C... ORPHA:813
Renpenning Syndrome
Cachexia ORPHA:3242
Microvillus Inclusion Disease
Abdominal distention, Diarrhea ORPHA:2290
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Anorexia, Abdominal distention, Episodic abdominal pain, Weight loss ORPHA:370348
Relapsing Fever
Diarrhea, Vomiting, Abdominal pain ORPHA:91547
Zygomycosis
Gastrointestinal hemorrhage, Brain abscess, Unusual skin infection, Gastritis, Abdominal pain, He... ORPHA:73263
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Failure to thrive, Feeding difficulties, Weight loss OMIM:619487
Al Amyloidosis
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Xerostomia, Weight loss, Increa... ORPHA:85443
Carcinoid Syndrome
Nausea and vomiting, Lack of bowel sounds, Protracted diarrhea, Episodic abdominal pain ORPHA:100093
Microscopic Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Peritonitis, Gastroin... ORPHA:727
Acute Monoblastic/Monocytic Leukemia
Anorexia, Weight loss ORPHA:514
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections ORPHA:244
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Diarrhea, Per... ORPHA:342
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Feeding difficulties in infancy, Chronic diarrhea, Chronic constipation, Gastroesopha... ORPHA:500055
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Infectious encephalitis, Weight loss ORPHA:139402
Japanese Encephalitis
Anorexia, Abdominal pain, Meningitis, Diarrhea, Increased circulating IgM level, Increased circul... ORPHA:79139
Lujo Hemorrhagic Fever
Fulminant hepatitis, Odynophagia, Severe viral infection, Diarrhea, Vomiting, Abdominal cramps, D... ORPHA:319213
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Anorexia, Hepatic failure, Chronic diarrhea, Recurrent infections, Vom... OMIM:557000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Diarrhea, Enterocolitis, Ulcerative colitis, Recurrent bacterial infections, Inflammation of the ... ORPHA:79259
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Cachexia OMIM:618186
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea... ORPHA:2131
Amyloidosis, Hereditary, Transthyretin-Related
Episodic vomiting, Diarrhea, Constipation OMIM:105210
Solitary Fibrous Tumor
Constipation, Weight loss ORPHA:2126
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Glycogen Storage Disease Ib
Recurrent bacterial infections, Inflammation of the large intestine, Protuberant abdomen OMIM:232220
Dominant Beta-Thalassemia
Chronic infection, Diarrhea, Failure to thrive in infancy, Feeding difficulties ORPHA:231226
Lynch Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Weight loss, Constipation ORPHA:144
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Impaired platelet adhesion, Nausea ORPHA:324636
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, Diarrhea, Hematochezia, Melena, Intestinal... ORPHA:79076
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Gastroesophageal reflux... ORPHA:183
Q Fever
Unusual infection, Anorexia, Weight loss, Increased circulating antibody level, Meningitis, Infec... ORPHA:781
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea OMIM:608643
Developmental And Epileptic Encephalopathy 50
Diarrhea, Failure to thrive, Dysphagia OMIM:616457
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Abdominal pain OMIM:106100
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Abdominal pain, Recurrent pharyngitis, Diarrhea, Peritonitis, Constipatio... ORPHA:32960
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Episodic abdominal pain, Hematoche... ORPHA:913
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Reye syndrome-like episodes, Diarrhea, Weight loss, Episodic vomiting ORPHA:20
Hereditary Angioedema Type 1
Abdominal pain, Diarrhea, Vomiting, Dysphagia, Nausea ORPHA:100050
Lymphoid Interstitial Pneumonia
Failure to thrive, Severe viral infection, Weight loss ORPHA:79128
Diarrhea 10, Protein-Losing Enteropathy Type
Recurrent upper respiratory tract infections, Secretory diarrhea, Feeding difficulties, Hematoche... OMIM:618183
Familial Colorectal Cancer Type X
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Weight loss, Constipation ORPHA:440437
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Syndromic Diarrhea
Small for gestational age, Gastritis, Bloody diarrhea, Recurrent infections, Colitis, Intractable... ORPHA:84064
Thymoma
Weight loss, Ulcerative colitis, Decreased circulating antibody level ORPHA:99867
Pediatric Systemic Lupus Erythematosus
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:93552
Listeriosis
Brain abscess, Unusual skin infection, Abdominal pain, Meningitis, Diarrhea, Peritonitis, Unusual... ORPHA:533
Mucopolysaccharidosis, Type Iiid
Diarrhea, Recurrent upper respiratory tract infections, Dysphagia, Recurrent otitis media, Tube f... OMIM:252940
Citrullinemia Type Ii
Diarrhea, Vomiting, Decreased body mass index ORPHA:247585
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Failure to thrive, Secretory diarrhea OMIM:214700
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diarrhea, Vomiting ORPHA:3240
Multiple Myeloma
Increased circulating IgA level, Functional abnormality of the gastrointestinal tract, Weight los... ORPHA:29073
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... ORPHA:79276
Tetrasomy 12P
Cachexia ORPHA:884
Lysinuric Protein Intolerance
Protein avoidance, Diarrhea, Malnutrition, Truncal obesity, Vomiting, Failure to thrive, Nausea OMIM:222700
Sporadic Pheochromocytoma/Secreting Paraganglioma
Episodic abdominal pain, Nausea, Weight loss ORPHA:276621
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Recurrent herpes, Diarrhea, Recurrent upper respiratory tract i... ORPHA:391487
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Short Syndrome
Poor appetite, Weight loss ORPHA:3163
Nocardiosis
Brain abscess, Anorexia, Meningitis, Severe infection, Peritonitis, Unusual CNS infection, Sepsis... ORPHA:31204
Primary Sclerosing Cholangitis
Acute hepatic failure, Recurrent systemic pyogenic infections, Abnormal large intestine physiolog... ORPHA:171
Caroli Disease
Anorexia, Abdominal pain, Weight loss, Abdominal rigidity, Vomiting, Nausea ORPHA:53035
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Malnutrition, Decreased body weight ORPHA:96180
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Beta-Thalassemia Major
Chronic infection, Diarrhea, Failure to thrive in infancy, Feeding difficulties ORPHA:231214
Cholera
Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting ORPHA:173
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea OMIM:602347
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Weight loss ORPHA:160
Fructose-1,6-Bisphosphatase Deficiency
Reye syndrome-like episodes, Diarrhea, Vomiting ORPHA:348
Rheumatoid Arthritis
Weight loss OMIM:180300
Trichohepatoneurodevelopmental Syndrome
Chronic diarrhea, Steatorrhea, Recurrent infections, Feeding difficulties, Gastroesophageal reflu... OMIM:618268
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Recurrent gastroenteritis, Bloody diarrhea ORPHA:294023
Vipoma
Nausea and vomiting, Poor appetite, Anorexia, Secretory diarrhea, Weight loss, Hematochezia, Epis... ORPHA:97282
Perry Syndrome
Weight loss OMIM:168605
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Adrenocortical Carcinoma
Abdominal pain, Increased body weight, Weight loss ORPHA:1501
Acute Radiation Syndrome
Diarrhea, Vomiting ORPHA:454831
Hereditary Late-Onset Parkinson Disease
Chronic constipation, Dysphagia, Weight loss ORPHA:411602
Meconium Ileus
Chronic diarrhea, Meconium ileus OMIM:614665
Symptomatic Form Of Hfe-Related Hemochromatosis
Abdominal pain, Chronic hepatic failure, Weight loss ORPHA:465508
Farber Disease
Chronic diarrhea, Recurrent upper respiratory tract infections, Feeding difficulties, Hepatic fai... ORPHA:333
Dyskeratosis Congenita, Autosomal Dominant 2
Chronic diarrhea, Failure to thrive, Bone marrow hypocellularity OMIM:613989
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Diarrhea, Episodic vomiting, Vomiting OMIM:618321
Carney Triad
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea ORPHA:139411
Serotonin Syndrome
Diarrhea, Hepatic failure, Nausea ORPHA:43116
Mucoepithelial Dysplasia, Hereditary
Melena, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis OMIM:158310
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Poor appetite, Nasogastric tube feeding in infancy, Weight loss... ORPHA:2020
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Abdominal pain, Weight loss, Constipation, Dysphagia ORPHA:93672
Houge-Janssens Syndrome 1
Chronic diarrhea OMIM:616355
Biotinidase Deficiency
Feeding difficulties in infancy, Diarrhea, Vomiting OMIM:253260
Melas
Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Vomiting, Constipation, Fa... ORPHA:550
Hemorrhagic Fever-Renal Syndrome
Abdominal pain, Hematemesis, Severe infection, Diarrhea, Melena, Vomiting, Decreased body weight,... ORPHA:340
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Failure to thrive, Feeding difficulties, Dysphagia OMIM:620358
Brucellosis
Small for gestational age, Anorexia, Abdominal pain, Weight loss, Increased circulating IgG level... ORPHA:1304
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Feeding difficulties in infancy, Diarrhea, Vomiting OMIM:608836
Addison Disease
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Weight loss, Constipation, Failure to th... ORPHA:85138
Alveolar Echinococcosis
Abdominal pain, Weight loss, Increased circulating antibody level, Vomiting, Decreased liver func... ORPHA:284
Loeffler Endocarditis
Weight loss ORPHA:75566
Polycythemia Vera
Gastrointestinal hemorrhage, Abdominal pain, Weight loss ORPHA:729
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Reye syndrome-like episodes, Abdominal distention, Diarrhea, Vomiting, Hep... OMIM:256810
Juvenile Amyotrophic Lateral Sclerosis
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia ORPHA:300605
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Renal Nutcracker Syndrome
Abdominal pain, Nausea, Weight loss ORPHA:71273
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Multiple Endocrine Neoplasia, Type Iib
Constipation, Failure to thrive in infancy, Diarrhea OMIM:162300
Igg4-Related Retroperitoneal Fibrosis
Nausea and vomiting, Anorexia, Abdominal pain, Weight loss, Constipation ORPHA:49041
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Acute colitis ORPHA:90038
Distal Renal Tubular Acidosis
Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive ORPHA:18
Dubowitz Syndrome
Feeding difficulties in infancy, Chronic diarrhea, Recurrent infections, Gastroesophageal reflux,... OMIM:223370
Aredyld Syndrome
Cachexia ORPHA:1133
Chronic Graft Versus Host Disease
Anorexia, Abdominal pain, Diarrhea, Xerostomia, Weight loss, Recurrent infections, Gastroesophage... ORPHA:99921
Cockayne Syndrome Type 1
Diarrhea, Failure to thrive ORPHA:90321
Turcot Syndrome With Polyposis
Abdominal pain, Diarrhea, Hematochezia, Melena, Constipation, Vomiting, Nausea ORPHA:99818
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Secretory diarrhea OMIM:614441
Hereditary Pheochromocytoma-Paraganglioma
Episodic abdominal pain, Nausea, Weight loss ORPHA:29072
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent respiratory infections, Cachexia, Recurrent pneumon... ORPHA:647
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Chronic diarrhea, Vomiting OMIM:614921
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Increased circulating IgA level, Increased body weight, Weight loss, ... ORPHA:2298
Granulomatosis With Polyangiitis
Nausea and vomiting, Recurrent respiratory infections, Gastrointestinal hemorrhage, Intestinal ob... ORPHA:900
Poems Syndrome
Increased circulating antibody level, Weight loss ORPHA:2905
Plague
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Sepsis, Enterocolitis, Bloody diarrhea, Inflamma... ORPHA:707
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Failure to thrive in infancy, Poor appetite, Diarrhea, Decreased cir... ORPHA:247598
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Secretory diarrhea OMIM:270420
Colchicine Poisoning
Diarrhea, Vomiting, Nausea ORPHA:31824
Mucolipidosis Type Ii
Recurrent respiratory infections, Gastrostomy tube feeding in infancy, Protuberant abdomen, Weigh... ORPHA:576
Rothmund-Thomson Syndrome Type 1
Small for gestational age, Diarrhea, Functional abnormality of the gastrointestinal tract, Vomiti... ORPHA:221008
Marburg Hemorrhagic Fever
Anorexia, Abdominal pain, Severe infection, Odynophagia, Diarrhea, Bloody diarrhea, Increased cir... ORPHA:99826
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Vomiting ORPHA:230
Ectodermal Dysplasia-Skin Fragility Syndrome
Chronic diarrhea, Failure to thrive, Recurrent pneumonia, Sepsis ORPHA:158668
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Intestinal pseudo-obstruction, Dysphagia, Weight loss OMIM:607459
Rothmund-Thomson Syndrome
Nasogastric tube feeding in infancy, Diarrhea, Small for gestational age, Vomiting ORPHA:2909
Parathyroid Carcinoma
Nausea and vomiting, Episodic abdominal pain, Weight loss, Constipation, Dysphagia ORPHA:143
Kawasaki Disease
Nausea and vomiting, Abdominal pain, Recurrent pharyngitis, Diarrhea, Meningitis ORPHA:2331
Yellow Fever
Abdominal pain, Hematemesis, Diarrhea, Increased circulating IgM level, Vomiting, Opportunistic i... ORPHA:99829
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic diarrhea, Obesity, ... OMIM:615873
Behçet Disease
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Weight loss, Recurren... ORPHA:117
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea OMIM:226730
Rothmund-Thomson Syndrome Type 2
Small for gestational age, Diarrhea, Functional abnormality of the gastrointestinal tract, Vomiti... ORPHA:221016
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abdominal pain, Anorexia, Weight loss ORPHA:79430
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Multiple Endocrine Neoplasia Type 1
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Weight loss, Melena, Gastroesophageal reflux, Vo... ORPHA:652
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Hematemesis, Chronic diarrhea, Sepsis, Hematochezia, Inflammati... ORPHA:906
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Diarrhea, Constipation, Vomiting, Failure to thrive, Impaired platelet... OMIM:241200
Trichohepatoenteric Syndrome 1
Failure to thrive, Small for gestational age, Decreased circulating antibody level, Intractable d... OMIM:222470
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Feeding difficulties, Recurrent infections, Recurrent bacterial... ORPHA:2273
Bartter Syndrome, Type 1, Antenatal
Small for gestational age, Diarrhea, Constipation, Vomiting, Failure to thrive OMIM:601678
Hurler Syndrome
Recurrent respiratory infections, Chronic diarrhea, Feeding difficulties ORPHA:93473
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Abdominal distention, Diarrhea, Malnutriti... OMIM:619991
Thyrotoxic Periodic Paralysis
Constipation, Obesity, Weight loss ORPHA:79102
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Chronic constipation, Chronic diarrhea, Decreased body weight OMIM:619005
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Erdheim-Chester Disease
Nausea and vomiting, Abdominal pain, Weight loss ORPHA:35687
Pearson Syndrome
Small for gestational age, Severe infection, Chronic diarrhea, Steatorrhea, Bone marrow hypocellu... ORPHA:699
Cerebrotendinous Xanthomatosis
Pseudobulbar paralysis, Diarrhea OMIM:213700
Sandhoff Disease
Chronic diarrhea, Episodic abdominal pain OMIM:268800
Ogden Syndrome
Diarrhea, Dysphagia, Feeding difficulties, Recurrent infections, Vomiting, Tube feeding, Recurren... OMIM:300855
Mitchell-Riley Syndrome
Diarrhea OMIM:615710
Igg4-Related Kidney Disease
Increased circulating IgG4 level, Abdominal pain, Increased circulating IgE level, Weight loss, I... ORPHA:449395
Diamond-Blackfan Anemia 21
Chronic diarrhea, Obesity OMIM:620072
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea OMIM:235400
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Recurrent abscess formation, Bloody diarrhea ORPHA:436252
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Recurrent tonsillitis, Constipation, Protuberant abdomen, Dys... ORPHA:581
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea OMIM:167100
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Chronic diarrhea ORPHA:457279
Alg9-Cdg
Gastroesophageal reflux, Diarrhea, Vomiting ORPHA:79328
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Bloody diarrhea, Hematochezia, Melena ORPHA:464321
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Weight loss, Incre... ORPHA:79078
Dermatomyositis
Feeding difficulties in infancy, Recurrent respiratory infections, Weight loss ORPHA:221
Crimean-Congo Hemorrhagic Fever
Nausea and vomiting, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Melena, Increased circulati... ORPHA:99827
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Deeah Syndrome
Chronic diarrhea, Chronic constipation, Dysphagia, Decreased body weight, Exocrine pancreatic ins... OMIM:619004
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Anorexia, Weight loss, Inflammation of the large intestine, Inc... OMIM:181000
Gitelman Syndrome
Nausea and vomiting, Abdominal pain, Diarrhea, Constipation, Failure to thrive ORPHA:358
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Anorexia ORPHA:1969
Idiopathic Hypereosinophilic Syndrome
Abdominal pain, Feeding difficulties in infancy, Abdominal distention, Chronic diarrhea, Colitis,... ORPHA:3260
Multiple Endocrine Neoplasia, Type I
Diarrhea, Esophagitis OMIM:131100
Malakoplakia
Diarrhea, Abdominal pain ORPHA:556
Dubowitz Syndrome
Chronic diarrhea, Recurrent infections ORPHA:235
Mednik Syndrome
Diarrhea OMIM:609313
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Diarrhea, Feeding difficulties, Vomiting, Dysphagia, Failure to thrive OMIM:606721
Familial Thrombocytosis
Weight loss ORPHA:71493
Chikungunya
Diarrhea, Infectious encephalitis, Vomiting ORPHA:324625
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Abetalipoproteinemia
Chronic diarrhea, Failure to thrive, Vomiting, Steatorrhea ORPHA:14
Proximal Renal Tubular Acidosis
Diarrhea, Failure to thrive, Vomiting ORPHA:47159
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Oculopharyngodistal Myopathy 1
Dysphagia, Weight loss OMIM:164310
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dy... ORPHA:500150
Peutz-Jeghers Syndrome
Abdominal pain, Intestinal bleeding, Bloody diarrhea OMIM:175200
Cocaine Intoxication
Abdominal pain, Bloody diarrhea, Gastrointestinal infarctions, Colitis, Vomiting, Nausea ORPHA:90068
Leptospirosis
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Meningitis ORPHA:509
Multiple Endocrine Neoplasia Type 2
Abdominal distention, Diarrhea, Constipation ORPHA:653
Tsh-Secreting Pituitary Adenoma
Nausea and vomiting, Vomiting, Weight loss ORPHA:91347
Schwartz-Jampel Syndrome
Feeding difficulties in infancy, Cachexia, Decreased body weight ORPHA:800
Cystinosis, Nephropathic
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Exocrine pancrea... OMIM:219800
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Brain abscess, Abdominal pain, Diarrhea, Hematochezia, Failure to th... ORPHA:2929
Glycogen Storage Disease Ia
Intermittent diarrhea, Protuberant abdomen OMIM:232200
Fanconi Anemia
Recurrent urinary tract infections, Weight loss ORPHA:84
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Nasoga... ORPHA:273
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss ORPHA:99885
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Diarrhea, Xerostomia, Sepsis, Gastroin... ORPHA:95455
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Diarrhea, Increased body weight, Recurrent cutaneous fungal infections, Weight loss, Tr... ORPHA:99889
Sapho Syndrome
Inflammation of the large intestine, Chronic diarrhea, Steatorrhea, Abdominal pain ORPHA:793
Kikuchi-Fujimoto Disease
Meningitis, Anorexia, Weight loss ORPHA:50918
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Multiple Endocrine Neoplasia Type 4
Diarrhea, Esophagitis, Episodic abdominal pain ORPHA:276152
Scorpion Envenomation
Diarrhea, Vomiting, Abdominal pain ORPHA:466677
Seckel Syndrome
Cachexia ORPHA:808
Trisomy 18
Cachexia ORPHA:3380
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux ORPHA:3164
Stickler Syndrome
Recurrent respiratory infections, Cachexia, Feeding difficulties in infancy, Gastroesophageal ref... ORPHA:828
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Abdominal pain, Weight loss, Increased circulating IgG level, Increased circulating ant... ORPHA:91500
Zttk Syndrome
Feeding difficulties in infancy, Chronic diarrhea, Failure to thrive, Feeding difficulties OMIM:617140
Acute Liver Failure
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea ORPHA:90062
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Mucopolysaccharidosis Type 2, Severe Form
Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections ORPHA:217085
Mucopolysaccharidosis Type 2
Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections ORPHA:580
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Feeding difficulties, Failure to thrive, Vomiting, Weight loss ORPHA:90794
Mucopolysaccharidosis Type 2, Attenuated Form
Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections ORPHA:217093
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Small for gestational age, Feeding difficulties, Intermittent diarrhea, Failure to thrive, Exocri... ORPHA:2255
Camurati-Engelmann Disease
Feeding difficulties in infancy, Slender build, Cachexia, Anorexia ORPHA:1328
African Trypanosomiasis
Diarrhea, Vomiting, Nausea, Weight loss ORPHA:3385
Cockayne Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Gastrostomy tube feeding in i... ORPHA:191
Aspartylglucosaminuria
Recurrent respiratory infections, Diarrhea OMIM:208400
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Nmda Receptor Encephalitis
Diarrhea, Vomiting ORPHA:217253
Cerebrotendinous Xanthomatosis
Chronic diarrhea ORPHA:909
Viss Syndrome
Chronic gastritis, Abdominal distention, Increased circulating IgE level, Chronic diarrhea, Feedi... OMIM:619472
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Feeding difficulties ORPHA:2072
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Weight loss ORPHA:740
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Feeding difficulties, Dysphagia ORPHA:642
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Occipital Horn Syndrome
Chronic diarrhea OMIM:304150
Sarcoidosis
Hepatic failure, Decreased liver function, Parotitis, Weight loss ORPHA:797
Choreoacanthocytosis
Dysphagia, Weight loss ORPHA:2388
Proteus Syndrome
Cachexia, Recurrent infections ORPHA:744
Tropical Endomyocardial Fibrosis
Malnutrition, Cachexia ORPHA:75565
Goodpasture Syndrome
Weight loss OMIM:233450
Norrie Disease
Failure to thrive, Cachexia ORPHA:649

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 Gbp2b

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 Gbp2b.

No publications found that use IMPC mice or data for Gbp2b.

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
Gbp2btm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gbp2btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Gbp2btm112948(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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