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Gene: Gsdmd MGI:1916396

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Gene Summary

Name:
gasdermin D
Synonyms:
DF5L,  1810036L03Rik,  M2-4,  Gsdmdc1,  Dfna5l

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
dilated heart left ventricle Gsdmdem1(IMPC)Marc HOM   Early adult 9.90×10-06
decreased heart left ventricle size Gsdmdem1(IMPC)Marc HOM   Early adult 9.94×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Gsdmd 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 Gsdmd by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Trehalase Deficiency
Abdominal pain, Diarrhea OMIM:612119
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Lactose Intolerance, Adult Type
Lactose intolerance, Abdominal pain, Diarrhea, Flatulence OMIM:223100
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Recurrent respiratory infections, Diarrhea, Chronic diarrhea OMIM:614102
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in... OMIM:613494
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... ORPHA:35122
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Angioedema, Hereditary, 8
Abdominal pain, Diarrhea, Episodic vomiting OMIM:619367
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t... OMIM:613495
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Pouchitis
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... ORPHA:217067
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Meningitis, Chronic diarrhea OMIM:614379
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Immunodeficiency 104
Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Failure to thrive secondary... OMIM:608971
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Rabies
Anorexia, Diarrhea, Nausea and vomiting, Recurrent pharyngitis ORPHA:770
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Diarrhea OMIM:610370
Diarrhea 9
Diarrhea OMIM:618168
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Malabsorption, Nausea, Abdominal distention, Dyspepsia, Abdominal pain, Chronic diarrhea ORPHA:103907
Immunodeficiency 19
Recurrent otitis media, Recurrent respiratory infections, Chronic diarrhea, Severe viral infection OMIM:615617
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain ORPHA:160148
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent bacterial infections, Recurrent... OMIM:613501
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea OMIM:223000
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections OMIM:608957
Brunner Syndrome
Diarrhea OMIM:300615
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Feeding difficulties, Abdominal distention, Projecti... OMIM:620045
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Hirschsprung Disease
Diarrhea, Sepsis, Functional abnormality of the gastrointestinal tract, Nausea and vomiting, Inte... ORPHA:388
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Feeding difficulties in infancy, Vomiting OMIM:606528
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Recurrent fungal infections, Decreased circulating antibody level... OMIM:616873
Solitary Rectal Ulcer Syndrome
Hematochezia, Tenesmus, Chronic constipation, Episodic abdominal pain, Abdominal pain, Intermitte... ORPHA:209964
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Chron... OMIM:619446
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Meningitis, Chronic diarrhea, Chronic oral candidiasis OMIM:616740
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Chronic diarrhea, Fat malabsorption OMIM:613291
Dracunculiasis
Diarrhea, Nausea and vomiting, Recurrent cutaneous abscess formation ORPHA:231
Primary Peritoneal Carcinoma
Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain ORPHA:168829
Ménétrier Disease
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Helicobac... ORPHA:2494
Diarrhea 7, Protein-Losing Enteropathy Type
Vomiting, Diarrhea, Abdominal colic OMIM:615863
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Recurrent bacterial infections OMIM:300636
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea OMIM:251850
Erythroderma Desquamativum
Diarrhea ORPHA:314
Enterokinase Deficiency
Diarrhea OMIM:226200
Inflammatory Bowel Disease (Crohn Disease) 30
Vomiting, Esophagitis, Pancolitis, Gastritis, Abdominal pain, Chronic diarrhea, Bloody diarrhea OMIM:619079
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Diarrhea, Recurrent aphthous stomatitis, Recurrent sinusitis, Abdominal pain, Colitis, Recurrent ... OMIM:613960
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Impaired Ig class switch recombination, Recurrent infection of th... OMIM:608184
Immunodeficiency 15B
Recurrent infections, Chronic diarrhea, Chronic oral candidiasis OMIM:615592
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Abdominal pain, Recurrent upper respiratory tract infections, Vomiting OMIM:620137
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent pneumonia, Diarrhea, Failure to thrive secondary to recurrent infections, Recurrent can... ORPHA:169160
Coproporphyria, Hereditary
Abdominal pain, Vomiting, Diarrhea, Constipation OMIM:121300
Enteric Anendocrinosis
Vomiting, Diarrhea, Malabsorption ORPHA:83620
Diarrhea 13
Vomiting, Secretory diarrhea OMIM:620357
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Meningitis, Recurrent opportunistic infections, Diarrhea, Failure to thrive secondary to recurren... OMIM:601457
Immunodeficiency 11B With Atopic Dermatitis
Disseminated molluscum contagiosum, Colonic eosinophilia, Severe cytomegalovirus infection, Chron... OMIM:617638
Immunodeficiency 56
Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Hepatic failure, Recurrent respiratory inf... OMIM:615207
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... OMIM:193670
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Folate Malabsorption, Hereditary
Recurrent infections, Diarrhea, Malabsorption, Feeding difficulties in infancy OMIM:229050
Immunodeficiency, Common Variable, 7
Recurrent infections, Chronic diarrhea, Recurrent respiratory infections, Recurrent urinary tract... OMIM:614699
Immunodeficiency, Common Variable, 11
Crohn's disease, Recurrent respiratory infections, Inflammation of the large intestine, Mucoid di... OMIM:615767
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:240500
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention OMIM:606824
Immunodeficiency 48
Pneumocystis carinii pneumonia, Recurrent respiratory infections, Chronic diarrhea, Recurrent can... OMIM:269840
Immunodeficiency 112
Recurrent viral infections, Chronic mucocutaneous candidiasis, BCGitis, BCGosis, Recurrent bacter... OMIM:620449
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea, Recurrent bronchiolitis OMIM:619164
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Left ventricular hypertrophy, Right ventricular dilatation OMIM:614022
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting ORPHA:30925
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Feeding difficulties OMIM:620270
Chromosome 19P13.13 Deletion Syndrome
Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties OMIM:613638
Vascular Hyalinosis
Hematochezia, Diarrhea, Malabsorption OMIM:277175
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Abdominal distention OMIM:619445
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Rec... OMIM:618495
Immunodeficiency 7
Diarrhea, Recurrent otitis media, Severe varicella zoster infection, Recurrent respiratory infect... OMIM:615387
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Vomiting, Abnormal peristalsis, Abdominal distention, Steatorr... OMIM:615237
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Chronic diarrhea, Fat malabsorption, Steatorrhea ORPHA:309108
Maculopapular Cutaneous Mastocytosis
Abdominal pain, Vomiting, Diarrhea, Nausea ORPHA:79457
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Diarrhea, Recurrent pneumonia, Recurrent otitis med... ORPHA:277
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Diarrhea, Recurrent aphthous stomatitis, Recurrent infections, Chronic oral ... OMIM:150550
Malonyl-Coa Decarboxylase Deficiency
Vomiting, Diarrhea, Chronic constipation, Constipation, Abdominal pain OMIM:248360
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Vomiting, Secretory diarrhea, Recurrent bronchiolitis OMIM:616069
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Gastroesophageal reflux, Feeding difficulties, Malnutrition OMIM:619971
Hyaline Fibromatosis Syndrome
Recurrent infections, Diarrhea OMIM:228600
Reticular Dysgenesis
Diarrhea, Recurrent respiratory infections, Sepsis, Malabsorption ORPHA:33355
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:607594
Chylomicron Retention Disease
Diarrhea, Steatorrhea, Vomiting, Malnutrition OMIM:246700
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Immunodeficiency 69
BCGosis, Diarrhea, BCGitis OMIM:618963
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea OMIM:613217
Cog7-Cdg
Recurrent infections, Diarrhea, Feeding difficulties ORPHA:79333
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Recurrent respiratory infections, Vomiting, Feeding difficulties in infancy OMIM:264350
Radiation Proctitis
Hematochezia, Diarrhea, Sepsis, Tenesmus, Intestinal obstruction, Abdominal pain, Constipation, C... ORPHA:70475
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Attrv30M Amyloidosis
Diarrhea, Constipation ORPHA:85447
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention ORPHA:35710
Immunodeficiency 57 With Autoinflammation
Diarrhea, Recurrent respiratory infections, Inflammation of the large intestine, Gastritis OMIM:618108
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Recurre... OMIM:614069
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Abdominal distention ORPHA:103910
Neuroendocrine Tumor Of The Rectum
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe... ORPHA:100082
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Complement Factor B Deficiency
Recurrent bacterial infections, Recurrent meningococcal disease OMIM:615561
T-Cell Immunodeficiency With Thymic Aplasia
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can... ORPHA:83471
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Inflammation of the large intestine, Recurrent sinusitis, Candida esophagiti... OMIM:619281
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur... ORPHA:2688
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Chronic diarrhea OMIM:615285
Isolated Agammaglobulinemia
Diarrhea, Sepsis, Malabsorption, Meningitis, Recurrent respiratory infections, Recurrent cutaneou... ORPHA:229717
Severe Combined Immunodeficiency, X-Linked
Recurrent pneumonia, Recurrent bacterial meningitis, Recurrent fungal infections, Chronic diarrhe... OMIM:300400
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Paroxysmal Cold Hemoglobinuria
Recurrent respiratory infections, Diarrhea, Nausea and vomiting ORPHA:90035
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Diarrhea, Chronic mucocutaneous candidiasis, Recurrent protozoan infe... ORPHA:572
Paroxysmal Nocturnal Hemoglobinuria 2
Abdominal pain, Diarrhea OMIM:615399
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting ORPHA:75234
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Feeding difficulties OMIM:612075
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nausea, Recurrent infections, Dysphagia, Poor appetite ORPHA:352447
Glutaric Aciduria Iii
Diarrhea, Vomiting OMIM:231690
Secondary Short Bowel Syndrome
Diarrhea, Sepsis, Vomiting, Malnutrition, Malabsorption, Small intestinal dysmotility, Enterocoli... ORPHA:95427
Specific Granule Deficiency 1
Recurrent pneumonia, Recurrent otitis media, Impaired neutrophil chemotaxis, Recurrent bacterial ... OMIM:245480
Eosinophilic Gastroenteritis
Hematochezia, Diarrhea, Vomiting, Malabsorption, Steatorrhea, Abdominal pain, Dysphagia ORPHA:2070
Sandhoff Disease, Juvenile Form
Diarrhea, Dysphagia, Constipation ORPHA:309162
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Sepsis, Vomiting, Nausea, Melena, Abdominal pain, Dysphagi... ORPHA:319218
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Infectious encephalitis, Constipation, Abdominal pain ORPHA:99745
Central Diabetes Insipidus
Diarrhea, Nausea and vomiting, Anorexia ORPHA:178029
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Sepsis, Chronic mucocutaneous candidiasis, Decreased circulating... ORPHA:276
Pancreatoblastoma
Abdominal pain, Vomiting, Diarrhea, Abdominal distention ORPHA:677
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Hereditary Folate Malabsorption
Diarrhea, Gastroesophageal reflux, Recurrent urinary tract infections, Nausea and vomiting, Anore... ORPHA:90045
Botulism
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia ORPHA:1267
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Gastroesophageal reflux, Vomiting, Nausea, Gastrointestinal dysmotility, Small intestin... ORPHA:298
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Diarrhea, Recurrent aphthous stomatitis, Recurrent infection of the g... ORPHA:486
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Severe ... OMIM:616433
Autosomal Agammaglobulinemia
Diarrhea, Sepsis, Recurrent respiratory infections, Malabsorption, Meningitis, Recurrent infections ORPHA:33110
Spontaneous Periodic Hypothermia
Diarrhea, Nausea and vomiting ORPHA:29822
Foodborne Botulism
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia ORPHA:228371
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
Caspase 8 Deficiency
Recurrent herpes, Chronic diarrhea, Recurrent sinopulmonary infections OMIM:607271
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Recurrent infection of the gastrointestinal tract, Recurrent respiratory infecti... OMIM:613489
Neuroendocrine Tumor Of The Colon
Melena, Lack of bowel sounds, Hypoactive bowel sounds, Protracted diarrhea, Bowel urgency, Anorex... ORPHA:100080
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Recurrent respiratory infections, Chronic diarrhea OMIM:618523
Trichohepatoenteric Syndrome 2
Colitis, Diarrhea, Chronic diarrhea, Bloody diarrhea OMIM:614602
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammaglobulinemia, Increased c... OMIM:300291
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Inflammation of the large intestine, Invasive fungal infectio... ORPHA:98813
Intellectual Developmental Disorder, Autosomal Dominant 51
Recurrent otitis media, Chronic constipation, Chronic diarrhea, Feeding difficulties, Poor suck OMIM:617788
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Reye syndrome-like episodes, Nausea, Feeding difficulties, Poor appetite ORPHA:927
Aromatic L-Amino Acid Decarboxylase Deficiency
Diarrhea, Gastroesophageal reflux, Constipation, Dysphagia, Feeding difficulties ORPHA:35708
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... ORPHA:911
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Diarrhea, Vomiting, Malabsorption, Intestinal obstruction, Abdominal pain, Recurrent lower respir... OMIM:226300
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Hyperactive bowel... OMIM:603041
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Sepsis, Impaired memory B cell generation, Abnormal circulating ... OMIM:308230
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Diarrhea, Disseminated nontuberculous mycobacterial ... ORPHA:411703
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Diarrhea, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otiti... OMIM:307200
Necrotizing Enterocolitis
Diarrhea, Vomiting, Hypoactive bowel sounds, Peritonitis, Abdominal rigidity, Abdominal distentio... ORPHA:391673
Immunodeficiency 115 With Autoinflammation
Recurrent bacterial infections, Intermittent diarrhea, Recurrent viral infections, Candida esopha... OMIM:620632
Cutaneous Mastocytoma
Abdominal pain, Vomiting, Diarrhea, Nausea ORPHA:79455
Meconium Ileus
Chronic diarrhea, Meconium ileus OMIM:614665
Alg1-Cdg
Recurrent infections, Sepsis, Chronic diarrhea, Decreased liver function ORPHA:79327
Cog4-Cdg
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... ORPHA:263501
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Nausea, Constipation, Episodic vomiting, Abdominal distention, Abdominal pain ORPHA:100924
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Diarrhea, Sepsis, Crohn's disea... OMIM:616100
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Vomiting, Nasogastric tube feeding ORPHA:289504
Porphyria, Acute Intermittent
Vomiting, Diarrhea, Paralytic ileus, Nausea, Constipation, Abdominal pain OMIM:176000
Rapadilino Syndrome
Diarrhea, Feeding difficulties OMIM:266280
Thrombotic Thrombocytopenic Purpura
Abdominal pain, Diarrhea ORPHA:54057
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Feeding difficulties OMIM:177735
Specific Granule Deficiency 2
Intractable diarrhea, Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial in... OMIM:617475
Imerslund-Grasbeck Syndrome 2
Diarrhea, Recurrent urinary tract infections OMIM:618882
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Recurrent respiratory infections, Diarrhea, Gastritis ORPHA:2575
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Anorexia ORPHA:49827
Mpi-Cdg
Diarrhea, Gastrointestinal hemorrhage, Vomiting, Decreased liver function ORPHA:79319
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Recurrent sinusitis OMIM:617765
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent viral infections, Pyoderma, Recurrent bronchopulmonary infections,... OMIM:242700
Visceral Myopathy 1
Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Constipation, Abd... OMIM:155310
Nk-Cell Enteropathy
Hematochezia, Diarrhea, Gastroesophageal reflux, Constipation, Abdominal pain ORPHA:263665
Mitochondrial Dna Depletion Syndrome 11
Nausea, Recurrent infections, Chronic diarrhea OMIM:615084
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Recurrent sinopulmonary infections, Colitis, Chronic diarrhea, Ulcerative colitis OMIM:618394
Immunodeficiency 25
Recurrent herpes, Protracted diarrhea, Recurrent pneumonia, Recurrent candida infections OMIM:610163
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Diarrhea, Xerostomia, Vomiting, Malabsorption, Anorexia, Abdominal pain OMIM:175500
Autoinflammatory-Pancytopenia Syndrome
Severe Epstein Barr virus infection, Chronic diarrhea, Intestinal inflammation OMIM:619858
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Gastrointestinal dysmotilit... ORPHA:67
Neuroendocrine Tumor Of Stomach
Hepatic failure, Lack of bowel sounds, Melena, Protracted diarrhea, Nausea and vomiting, Episodic... ORPHA:100075
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
Aa Amyloidosis
Vomiting, Malnutrition, Malabsorption, Nausea, Abdominal pain, Chronic diarrhea ORPHA:85445
Benign Recurrent Intrahepatic Cholestasis
Abdominal pain, Chronic diarrhea, Nausea and vomiting, Anorexia ORPHA:65682
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Selective Igm Deficiency
Recurrent bronchitis, Meningitis, Recurrent sinusitis, Recurrent infections, Recurrent herpes, Re... ORPHA:331235
Congenital-Onset Steinert Myotonic Dystrophy
Diarrhea, Gastroesophageal reflux, Encopresis, Constipation, Abdominal pain, Dysphagia ORPHA:589821
Autoinflammation With Infantile Enterocolitis
Secretory diarrhea, Feeding difficulties in infancy, Enterocolitis, Episodic vomiting, Meningitis OMIM:616050
Classic Galactosemia
Hepatic failure, Diarrhea, Vomiting, Sepsis, Feeding difficulties ORPHA:79239
American Trypanosomiasis
Diarrhea, Infectious encephalitis, Achalasia, Abdominal pain, Abnormal large intestine physiology ORPHA:3386
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hepatic failure, Diarrhea OMIM:235555
Lassa Fever
Diarrhea, Sepsis, Nausea and vomiting, Abdominal pain, Dysphagia ORPHA:99824
Congenital Toxoplasmosis
Diarrhea ORPHA:858
Proprotein Convertase 1/3 Deficiency
Diarrhea, Malabsorption OMIM:600955
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Inflammation of the large intestine, Recurrent upper respiratory tract infect... ORPHA:436159
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Dysphagia, Feeding difficulties ORPHA:79101
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Chronic diarrhea, Recurrent gram-negative bacterial infections... OMIM:116920
Chylomicron Retention Disease
Diarrhea, Vomiting, Abdominal distention, Steatorrhea, Fat malabsorption ORPHA:71
Immunodeficiency 85 And Autoimmunity
Vomiting, Tube feeding, Recurrent respiratory infections, Chronic diarrhea, Persistent EBV viremia OMIM:619510
Cold Agglutinin Disease
Diarrhea, Nausea and vomiting ORPHA:56425
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Immunodeficiency 22
Recurrent upper respiratory tract infections, Diarrhea, Protracted diarrhea, Recurrent lower resp... OMIM:615758
Bone Dysplasia, Lethal Holmgren Type
Recurrent respiratory infections, Diarrhea, Nausea and vomiting ORPHA:1842
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... ORPHA:343
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Vomiting, Diarrhea, Feeding difficulties OMIM:250940
Methanol Poisoning
Abdominal pain, Vomiting, Diarrhea ORPHA:31825
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation ORPHA:422
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent infections, Chronic diarrhea, Recurrent pneumonia OMIM:619824
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea OMIM:300215
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent candida infec... ORPHA:169154
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular hypertrophy, Right ventricular dilatation OMIM:253700
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Severe viral infection, Acute hepatic failure, BCGosis, Extrapulmonary tuber... OMIM:619644
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding OMIM:607906
Cronkhite-Canada Syndrome
Abdominal pain, Diarrhea, Malabsorption, Anorexia ORPHA:2930
Galactosemia I
Vomiting, Diarrhea, Decreased liver function OMIM:230400
Immunodeficiency 58
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:618131
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Abdominal pain ORPHA:79456
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Chronic constipation, Abdominal pain, Chronic diarrhea OMIM:142680
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, Recurrent enteroviral infections, Chronic mucocutaneous candidiasis, ... ORPHA:79124
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Diarrhea, Gastroesophageal reflux, Vomiting, Recurrent infections due to aspiration, Feeding diff... OMIM:223900
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abdominal pain, Diarrhea, Brain abscess ORPHA:54251
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Recurrent bacterial infecti... OMIM:616005
Dengue Fever
Abdominal pain, Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting ORPHA:99828
Immunodeficiency 27A
Diarrhea, Anorexia OMIM:209950
Kaposi Sarcoma
Recurrent herpes, Diarrhea ORPHA:33276
Sepsis In Premature Infants
Diarrhea, Invasive fungal infection, Vomiting, Decreased liver function, Functional abnormality o... ORPHA:90051
Congenital Disorder Of Glycosylation, Type Ih
Vomiting, Diarrhea, Decreased liver function, Abdominal distention OMIM:608104
Familial Glucocorticoid Deficiency
Vomiting, Diarrhea, Recurrent urinary tract infections, Episodic abdominal pain, Constipation, An... ORPHA:361
Middle Ear Neuroendocrine Tumor
Chronic diarrhea ORPHA:100084
Snakebite Envenomation
Neuromuscular dysphagia, Vomiting, Diarrhea, Pseudobulbar paralysis ORPHA:449285
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Malabsorption, Anorexia, Abdomin... ORPHA:98850
Ethylmalonic Encephalopathy
Diarrhea ORPHA:51188
Immunodeficiency 97 With Autoinflammation
Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Colitis, Enterocolitis, Rec... OMIM:619802
Hereditary Fructose Intolerance
Vomiting, Diarrhea, Nausea, Chronic hepatic failure, Constipation, Abdominal distention, Abdomina... ORPHA:469
Legionnaires Disease
Diarrhea, Sepsis, Anorexia, Nausea and vomiting, Infectious encephalitis, Recurrent pharyngitis, ... ORPHA:549
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Vomiting, Diarrhea, Decreased liver function ORPHA:42
Omenn Syndrome
Recurrent bacterial infections, Diarrhea, Recurrent fungal infections, Recurrent viral infections OMIM:603554
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Right ventricular dilatation OMIM:619705
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hepatic failure, Diarrhea, Fat malabsorption OMIM:607765
Boutonneuse Fever
Abdominal pain, Diarrhea, Nausea ORPHA:83313
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Nausea and vomiting, Abdominal pain, Recurrent bacterial infections, Meningitis ORPHA:36412
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Vomiting, Hepatic failure, Diarrhea OMIM:602579
Blue Diaper Syndrome
Diarrhea ORPHA:94086
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Diarrhea OMIM:252920
Graft Versus Host Disease
Diarrhea, Vomiting, Recurrent gastroenteritis, Nausea, Gastrointestinal inflammation, Abdominal p... ORPHA:39812
Microvillus Inclusion Disease
Diarrhea, Abdominal distention ORPHA:2290
Congenital Disorder Of Glycosylation, Type Id
Vomiting, Diarrhea OMIM:601110
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Fat malabsorption OMIM:601847
Adiposis Dolorosa
Diarrhea, Xerostomia, Constipation ORPHA:36397
Immunodeficiency 114, Folate-Responsive
Recurrent lower respiratory tract infections, Chronic diarrhea OMIM:620603
Yao Syndrome
Abdominal pain, Diarrhea, Xerostomia OMIM:617321
Immunodeficiency 17
Recurrent otitis media, Recurrent gastroenteritis, Recurrent respiratory infections, Chronic diar... OMIM:615607
Neuroendocrine Neoplasm Of Appendix
Abdominal colic, Protracted diarrhea, Hypoactive bowel sounds, Nausea and vomiting, Mechanical il... ORPHA:100079
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Malabsorption, Abdominal distention, Steatorrhea, Chronic diarrhea ORPHA:92050
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Diarrhea OMIM:252900
Avian Influenza
Diarrhea, Sepsis, Vomiting, Infectious encephalitis, Abdominal pain, Meningitis ORPHA:454836
Good Syndrome
Recurrent respiratory infections, Diarrhea, Dysphagia, Recurrent urinary tract infections ORPHA:169105
Hyper-Igd Syndrome
Diarrhea, Vomiting, Molluscum contagiosum, Abdominal pain, Recurrent infections, Chronic diarrhea... OMIM:260920
Immunodeficiency 9
BCGitis, Recurrent aphthous stomatitis, Recurrent infections, Chronic diarrhea, Stomatitis OMIM:612782
X-Linked Agammaglobulinemia
Recurrent pneumonia, Sepsis, Malabsorption, Meningitis, Chronic diarrhea, Recurrent cutaneous abs... ORPHA:47
Carnitine Deficiency, Systemic Primary
Vomiting, Diarrhea OMIM:212140
Encephalopathy, Ethylmalonic
Chronic diarrhea, Feeding difficulties OMIM:602473
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Chronic gastritis, Esophagitis, Chronic constipati... OMIM:301074
Bacterial Toxic-Shock Syndrome
Sepsis, Diarrhea, Severe viral infection, Vomiting, Recurrent urinary tract infections, Infectiou... ORPHA:36234
Shigellosis
Hepatic failure, Sepsis, Vomiting, Tenesmus, Ulcerative colitis, Acute colitis, Paralytic ileus, ... ORPHA:810
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent upper respiratory tract infections, Recurrent otitis media, Intestinal obstruction, Men... OMIM:600802
Mucopolysaccharidosis, Type Iiic
Recurrent upper respiratory tract infections, Diarrhea, Dysphagia OMIM:252930
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Vomiting, Diarrhea OMIM:560000
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea, Fat malabsorption OMIM:211600
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea OMIM:619849
Neuropathy, Hereditary Sensory And Autonomic, Type V
Diarrhea, Constipation OMIM:608654
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia ORPHA:1332
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Decreased liver functio... ORPHA:85450
Familial Mediterranean Fever
Diarrhea, Vomiting, Chronic constipation, Crohn's disease, Episodic abdominal pain, Peritonitis, ... OMIM:249100
Immunodeficiency 92
Persistent CMV viremia, Esophagitis, BCGosis, Recurrent oral herpes, Chronic diarrhea OMIM:619652
Acquired Hypertrichosis Lanuginosa
Chronic diarrhea, Poor appetite ORPHA:2221
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Recurrent pneumonia, Recurrent upper respiratory tract infections, Diarrhea, Chron... OMIM:147060
Immunodeficiency 31C
Diarrhea, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Disseminated histo... OMIM:614162
Carcinoid Syndrome
Episodic abdominal pain, Lack of bowel sounds, Nausea and vomiting, Protracted diarrhea ORPHA:100093
Young-Onset Parkinson Disease
Gastroparesis, Diarrhea, Nausea, Constipation ORPHA:2828
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Poor appetite, Recurrent candida infections OMIM:201100
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Vomiting, Diarrhea OMIM:605911
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac atrium morphology, Left atrial enlargement, Left ventric... ORPHA:563
Car T Cell Therapy-Associated Cytokine Release Syndrome
Nausea, Vomiting, Diarrhea, Poor appetite ORPHA:542323
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea, Malabsorption OMIM:602347
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Severe cytomegalovirus infection, Diarrhea OMIM:619313
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Chronic diarrhea OMIM:619481
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Sepsis, Inflammation of the large intestine, Recurrent r... OMIM:614700
Ppoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ... ORPHA:97278
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Abdominal pain, Diarrhea, Chronic diarrhea OMIM:617099
Alg8-Cdg
Vomiting, Diarrhea, Feeding difficulties ORPHA:79325
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Sepsis, Enteroviral dermatomyositis syndrome, Recurrent otitis media, Pyoder... OMIM:300755
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Hematochezia, Hepatic failure, Diarrhea OMIM:613812
Fabry Disease
Vomiting, Diarrhea, Tenesmus, Nausea, Abdominal pain OMIM:301500
Cholesteryl Ester Storage Disease
Hepatic failure, Vomiting, Diarrhea, Acute hepatic failure, Protuberant abdomen, Steatorrhea OMIM:278000
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, Recurrent viral infections, Recurrent fungal infections, Recur... OMIM:606367
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent enteroviral infections, Protracted diarrhea, Recurrent fung... ORPHA:331206
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Vomiting, Diarrhea ORPHA:3240
Relapsing Fever
Abdominal pain, Vomiting, Diarrhea ORPHA:91547
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea OMIM:618805
Angioedema, Hereditary, 1
Abdominal pain, Vomiting, Diarrhea OMIM:106100
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Sepsis, Herpes simplex encephalitis, Recurrent apht... OMIM:233600
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea OMIM:619484
B4Galt1-Cdg
Diarrhea ORPHA:79332
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Diarrhea, Chronic mucocutaneous candidiasis, Rec... OMIM:102700
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Vomiting, Diarrhea, Feeding difficulties OMIM:251000
Whipple Disease
Gastrointestinal hemorrhage, Diarrhea, Malabsorption, Infectious encephalitis, Anorexia, Abdomina... ORPHA:3452
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Diarrhea, Gastroesophageal reflux, Recurrent urinary tract infections... ORPHA:221139
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Diarrhea, Gastrointestinal infarctions, Nausea and vomiting, Periton... ORPHA:727
Wiskott-Aldrich Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent meningitis, ... OMIM:301000
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Brain abscess, Severe viral infection, Vomiting, Secretory diarrhea, Acute colitis, Gas... ORPHA:544482
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Diarrhea, Chronic mucocutaneous candidiasis, Malabsorption, Chronic oral cand... OMIM:240300
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Exocrine pancreatic insufficiency, Nausea and vomiting, Anorexia, ... ORPHA:1333
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea, Malabsorption OMIM:242860
Hereditary Angioedema Type 1
Vomiting, Diarrhea, Nausea, Abdominal pain, Dysphagia ORPHA:100050
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Colonic eosinophilia, Men... OMIM:617718
Dpm1-Cdg
Diarrhea, Gastrostomy tube feeding in infancy ORPHA:79322
Celiac Disease, Susceptibility To, 1
Vomiting, Diarrhea, Recurrent aphthous stomatitis, Abdominal distention, Steatorrhea, Abdominal p... OMIM:212750
Congenital Myopathy 20
Chronic diarrhea OMIM:620310
Late-Onset Isolated Acth Deficiency
Diarrhea, Sepsis, Nausea and vomiting, Constipation, Anorexia, Abdominal pain ORPHA:199299
Amyloidosis, Hereditary Systemic 1
Diarrhea, Episodic vomiting, Constipation OMIM:105210
Wild Type Attr Amyloidosis
Gastrointestinal dysmotility, Chronic diarrhea, Bowel incontinence, Intermittent diarrhea ORPHA:330001
19P13.13 Microdeletion Syndrome
Vomiting, Diarrhea, Functional abnormality of the gastrointestinal tract, Abdominal pain, Feeding... ORPHA:357001
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Sepsis, Acute hepatic failure, Nausea and vomiting, Abdomi... ORPHA:36426
Zygomycosis
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Unusual skin infection, Invasive fungal infe... ORPHA:73263
Trichothiodystrophy 5, Nonphotosensitive
Recurrent infections, Chronic diarrhea OMIM:300953
Systemic Capillary Leak Syndrome
Abdominal pain, Diarrhea ORPHA:188
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea OMIM:614328
Mucopolysaccharidosis, Type Ii
Recurrent otitis media, Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction OMIM:309900
Somatostatinoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Nausea and vomiting, Intestinal obst... ORPHA:97283
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Steatorrhea, Abdomina... ORPHA:309031
Chromosome 6Q24-Q25 Deletion Syndrome
Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pulmonary valve, Atrial septal defe... OMIM:612863
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Vomiting, Diarrhea ORPHA:263455
Shwachman-Diamond Syndrome 2
Steatorrhea, Recurrent infections, Diarrhea, Exocrine pancreatic insufficiency OMIM:617941
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Abdominal distention, Episodic abdominal pain, Anorexia, Nausea ORPHA:100085
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Constipation OMIM:608643
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Recurrent otitis media, Abdominal distention, Recurrent lower ... OMIM:620233
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Malabsorption, Chronic diarrhea ORPHA:3217
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Vomiting, Recurrent infections, Diarrhea, Nausea ORPHA:79240
Glucagonoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Abnormal gastrointestinal motility, ... ORPHA:97280
Familial Hypoaldosteronism
Diarrhea, Nausea and vomiting, Feeding difficulties ORPHA:427
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Feeding difficulties OMIM:255120
Juvenile Polyposis Syndrome
Hematochezia, Abdominal pain, Diarrhea OMIM:174900
Lujo Hemorrhagic Fever
Vomiting, Diarrhea, Severe viral infection, Nausea, Abdominal cramps, Fulminant hepatitis, Dyspha... ORPHA:319213
Carney Triad
Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Anorexia, Abdominal pain ORPHA:139411
Pediatric Systemic Lupus Erythematosus
Abdominal pain, Vomiting, Diarrhea, Abdominal distention ORPHA:93552
Familial Mediterranean Fever
Diarrhea, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, Nausea and vomiting... ORPHA:342
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Diarrhea, Malabsorption, Anorexia, Recurrent infections ORPHA:33226
Grfoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ... ORPHA:97261
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent pneumonia, Recurrent viral infections, Recurrent infection of the gastrointestinal trac... ORPHA:35078
Mevalonic Aciduria
Vomiting, Recurrent infections, Diarrhea OMIM:610377
Acute Intermittent Porphyria
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,... ORPHA:79276
Congenital Disorder Of Glycosylation, Type Iil
Recurrent infections, Inflammation of the large intestine, Chronic diarrhea OMIM:614576
Immunodeficiency 55
Recurrent infections, Diarrhea OMIM:617827
Cystic Fibrosis
Recurrent pneumonia, Diarrhea, Exocrine pancreatic insufficiency, Ileus, Recurrent bronchopulmona... OMIM:219700
Acute Radiation Syndrome
Vomiting, Diarrhea ORPHA:454831
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Vomiting, Secretory diarrhea, Recurrent respiratory infections, Nasogastric tube feeding,... ORPHA:37042
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Feeding difficulties in infancy, Re... OMIM:613385
Infantile Systemic Hyalinosis
Malabsorption, Recurrent bacterial infections, Chronic diarrhea, Feeding difficulties, Steatorrhea ORPHA:2176
Mirage Syndrome
Sepsis, Gastroesophageal reflux, Recurrent urinary tract infections, Achalasia, Recurrent bacteri... OMIM:617053
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Vomiting, Recurrent infections, Diarrhea, Nausea ORPHA:264580
Atrial Septal Defect, Sinus Venosus Type
Right ventricular dilatation, Anomalous pulmonary venous return ORPHA:99105
Cholera
Vomiting, Diarrhea, Achlorhydria, Abdominal pain, Abdominal cramps ORPHA:173
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Vomiting, Feeding difficulties in infancy, Diarrhea ORPHA:71212
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:301220
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Severe infection, Chronic diarrhea, Ileus OMIM:304790
Fructose-1,6-Bisphosphatase Deficiency
Vomiting, Diarrhea, Reye syndrome-like episodes ORPHA:348
Phoar2-Enteropathy Syndrome
Secretory diarrhea OMIM:614441
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Diarrhea, Vomiting, Intestinal obstruction, Peritonitis, Constipation, Recurrent pharyngitis, Abd... ORPHA:32960
Autoerythrocyte Sensitization Syndrome
Vomiting, Gastrointestinal hemorrhage, Diarrhea, Nausea ORPHA:324636
Congenital Disorder Of Glycosylation, Type Im
Vomiting, Diarrhea OMIM:610768
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Vomiting, Diarrhea, Episodic vomiting OMIM:618321
Alternating Hemiplegia Of Childhood
Diarrhea, Vomiting, Oral-pharyngeal dysphagia, Anorexia, Gastrointestinal dysmotility, Constipati... ORPHA:2131
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Intestinal obstruction, Enterocolitis, Recurrent respiratory infections, Bloody dia... OMIM:243150
Primary Intestinal Lymphangiectasia
Opportunistic infection, Cryptococcal meningitis, Functional abnormality of the gastrointestinal ... ORPHA:90362
Lysosomal Acid Lipase Deficiency
Hepatic failure, Diarrhea, Vomiting, Decreased liver function, Malnutrition, Nausea and vomiting,... ORPHA:275761
Bronchial Neuroendocrine Tumor
Hepatic failure, Protracted diarrhea, Bowel urgency, Anorexia, Poor appetite ORPHA:97287
Refractory Celiac Disease
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition ORPHA:398063
Intellectual Developmental Disorder, Autosomal Dominant 57
Intermittent diarrhea, Diarrhea, Feeding difficulties, Constipation OMIM:618050
Pediatric-Onset Graves Disease
Diarrhea, Nausea and vomiting ORPHA:525731
Neuroblastoma, Susceptibility To, 1
Abdominal pain, Diarrhea OMIM:256700
Serotonin Syndrome
Nausea, Hepatic failure, Diarrhea ORPHA:43116
Biotinidase Deficiency
Vomiting, Feeding difficulties in infancy, Diarrhea OMIM:253260
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Sepsis, Chronic diarrhea, BCGitis OMIM:602450
Omenn Syndrome
Sepsis, Chronic diarrhea ORPHA:39041
Houge-Janssens Syndrome 1
Chronic diarrhea OMIM:616355
Beta-Ketothiolase Deficiency
Vomiting, Diarrhea, Anorexia ORPHA:134
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Acute colitis, Peritonitis, Abdominal pain, Bloody diarrhea ORPHA:90038
Acute Adrenal Insufficiency
Diarrhea, Recurrent acute respiratory tract infection, Nausea and vomiting, Constipation, Anorexi... ORPHA:95409
Listeriosis
Unusual CNS infection, Unusual skin infection, Brain abscess, Sepsis, Diarrhea, Vomiting, Infecti... ORPHA:533
Immunodeficiency 82 With Systemic Inflammation
Intractable diarrhea, Diarrhea, Vomiting, Recurrent otitis media, Bowel irritability, Crohn's dis... OMIM:619381
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infections, Recurrent apht... ORPHA:29207
Mucopolysaccharidosis, Type Iiid
Recurrent upper respiratory tract infections, Diarrhea, Recurrent otitis media, Tube feeding, Dys... OMIM:252940
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Vomiting, Feeding difficulties in infancy, Diarrhea OMIM:608836
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Recurrent bacterial infections, Abdominal pain... OMIM:615895
Japanese Encephalitis
Diarrhea, Vomiting, Infectious encephalitis, Abdominal pain, Anorexia, Meningitis ORPHA:79139
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Gastroesophageal reflux, Chronic constipation, Feeding difficulties in infancy, Chronic diarrhea,... ORPHA:500055
Mucoepithelial Dysplasia, Hereditary
Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneous candidiasis, Melena OMIM:158310
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Vomiting, Feeding difficulties in infancy, Diarrhea OMIM:212065
Turcot Syndrome With Polyposis
Hematochezia, Vomiting, Diarrhea, Nausea, Constipation, Melena, Abdominal pain ORPHA:99818
Ileal Neuroendocrine Tumor
Hepatic failure, Episodic abdominal pain, Nausea, Episodic vomiting, Abnormal bowel sounds, Gastr... ORPHA:100078
Rat-Bite Fever
Diarrhea, Vomiting, Sepsis, Parotitis, Meningitis ORPHA:31205
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Secretory diarrhea, Abdominal distention OMIM:270420
Riddle Syndrome
Recurrent pneumonia, Diarrhea, Recurrent viral infections, Recurrent sinusitis, Abdominal pain ORPHA:420741
Nijmegen Breakage Syndrome
Recurrent pneumonia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Recurr... OMIM:251260
Transcobalamin Ii Deficiency
Vomiting, Diarrhea OMIM:275350
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent infections, Recurrent upper respiratory tract infections, Diarrhea, Chronic mucocutaneo... ORPHA:391487
Citrullinemia Type Ii
Vomiting, Diarrhea ORPHA:247585
Dominant Beta-Thalassemia
Chronic infection, Diarrhea, Feeding difficulties ORPHA:231226
Mitchell-Riley Syndrome
Diarrhea, Malabsorption OMIM:615710
3-Hydroxy-3-Methylglutaric Aciduria
Diarrhea, Reye syndrome-like episodes, Episodic vomiting, Anorexia ORPHA:20
Trichothiodystrophy 1, Photosensitive
Recurrent infections, Malabsorption, Chronic diarrhea, Intestinal obstruction OMIM:601675
Familial Gestational Hyperthyroidism
Diarrhea ORPHA:99819
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Pancolitis, Eosinophilic infiltration of the esophagus, Candida esophagitis, Severe varicella zos... OMIM:618213
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematochezia, Diarrhea, Hematemesis, Recurrent lower respiratory tract infect... OMIM:615846
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Diarrhea, Melena, Abdominal pain ORPHA:79076
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Fat malabsorption, Malnutrition ORPHA:96180
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Diarrhea, Episodic vomiting OMIM:246450
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea OMIM:226730
Colchicine Poisoning
Nausea, Vomiting, Diarrhea ORPHA:31824
Osteootohepatoenteric Syndrome
Abdominal pain, Increased intestinal transit time, Secretory diarrhea, Episodic vomiting OMIM:619377
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Vomiting, Exocrine pancreatic insufficiency, Malabsorption, Anorexia, Steatorrhe... OMIM:557000
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Esophagitis, Intestinal obstruction, Episodi... ORPHA:913
Dopamine Beta-Hydroxylase Deficiency
Vomiting, Diarrhea ORPHA:230
Developmental And Epileptic Encephalopathy 50
Diarrhea, Dysphagia OMIM:616457
Microsporidiosis
Sepsis, Brain abscess, Bronchiolitis, Vomiting, Intermittent diarrhea, Infectious encephalitis, N... ORPHA:2552
Melas
Vomiting, Diarrhea, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Constipation ORPHA:550
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea ORPHA:424
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Recurrent upper respiratory tract infections, Secretory diarrhea, Feeding difficulties OMIM:618183
Acrodermatitis Enteropathica
Malabsorption, Chronic diarrhea, Poor appetite, Anorexia ORPHA:37
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Vomiting, Diarrhea, Acute hepatic failure, Reye syndrome-like episodes, Abdomina... OMIM:256810
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Left ventricular hypertrophy, Left atrial enlargement, Right ventricula... ORPHA:99106
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abdominal pain, Diarrhea, Nausea ORPHA:98849
Lysinuric Protein Intolerance
Vomiting, Diarrhea, Malnutrition, Protein avoidance, Nausea OMIM:222700
Trichohepatoneurodevelopmental Syndrome
Gastroesophageal reflux, Decreased liver function, Recurrent otitis media, Exocrine pancreatic in... OMIM:618268
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Vomiting, Abdominal colic, Malabsorption, Intestinal obstruction, Recurrent ... ORPHA:90363
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea OMIM:167100
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Recurrent viral infections, Sepsis, Secretory diarrhea, Necr... OMIM:619573
Congenital Syphilis
Meningitis, Diarrhea, Malabsorption ORPHA:499009
Beta-Thalassemia Major
Chronic infection, Diarrhea, Feeding difficulties ORPHA:231214
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Anomalous pulmonary venous return, Right ventricular dilatation, Unroof... ORPHA:99104
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Abdominal distention OMIM:214700
Hemorrhagic Fever-Renal Syndrome
Diarrhea, Vomiting, Nausea, Severe infection, Hematemesis, Melena, Abdominal pain ORPHA:340
Farber Disease
Recurrent upper respiratory tract infections, Chronic diarrhea, Hepatic failure, Feeding difficul... ORPHA:333
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent gastro... ORPHA:99843
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Vomiting, Chronic diarrhea OMIM:614921
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent infections, Diarrhea, Recurrent respiratory infections, Feeding difficulties OMIM:618278
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Recurrent gastroenteritis, Bloody diarrhea ORPHA:294023
Cockayne Syndrome Type 1
Diarrhea ORPHA:90321
Distal Renal Tubular Acidosis
Vomiting, Diarrhea, Poor appetite, Constipation ORPHA:18
Cerebrotendinous Xanthomatosis
Diarrhea, Pseudobulbar paralysis OMIM:213700
Sandhoff Disease
Episodic abdominal pain, Chronic diarrhea OMIM:268800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea OMIM:235400
Plague
Inflammation of the large intestine, Diarrhea, Sepsis, Vomiting, Abdominal pain, Enterocolitis, H... ORPHA:707
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Enterocolitis, Protuberant abdomen, Recurrent bact... ORPHA:79259
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Dysphagia, Feeding difficulties OMIM:620358
Multiple Endocrine Neoplasia, Type Iib
Diarrhea, Constipation OMIM:162300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Hematemesis, Melena, Bloody diarrhea ORPHA:464321
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Chronic diar... OMIM:612132
Syndromic Diarrhea
Intractable diarrhea, Gastritis, Dependency on intravenous nutrition, Colitis, Recurrent infectio... ORPHA:84064
Multiple Endocrine Neoplasia, Type I
Diarrhea, Esophagitis OMIM:131100
Chronic Graft Versus Host Disease
Diarrhea, Xerostomia, Gastroesophageal reflux, Abnormal esophagus physiology, Nausea, Anorexia, A... ORPHA:99921
Alg9-Cdg
Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Abnormal left ventric... ORPHA:79328
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Malabsorption, Constipation, Recurrent sinopulmonary infections, Protubera... ORPHA:581
Immunodeficiency 47
Recurrent bacterial infections, Recurrent infections, Chronic diarrhea, Exocrine pancreatic insuf... OMIM:300972
Malakoplakia
Abdominal pain, Diarrhea ORPHA:556
Addison Disease
Diarrhea, Nausea and vomiting, Constipation, Anorexia, Abdominal pain ORPHA:85138
Marburg Hemorrhagic Fever
Diarrhea, Vomiting, Odynophagia, Nausea, Severe infection, Anorexia, Abdominal pain, Bloody diarrhea ORPHA:99826
Dubowitz Syndrome
Gastroesophageal reflux, Feeding difficulties in infancy, Episodic vomiting, Recurrent infections... OMIM:223370
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Chronic diarrhea ORPHA:457279
Ogden Syndrome
Vomiting, Diarrhea, Recurrent otitis media, Tube feeding, Recurrent infections, Dysphagia, Feedin... OMIM:300855
Mednik Syndrome
Diarrhea OMIM:609313
Hurler Syndrome
Recurrent respiratory infections, Chronic diarrhea, Feeding difficulties ORPHA:93473
Rothmund-Thomson Syndrome Type 1
Functional abnormality of the gastrointestinal tract, Vomiting, Diarrhea, Nasogastric tube feeding ORPHA:221008
Vipoma
Secretory diarrhea, Abnormal gastrointestinal motility, Malabsorption, Nausea and vomiting, Episo... ORPHA:97282
Neuroblastoma
Chronic diarrhea, Abdominal distention ORPHA:635
Multiple Endocrine Neoplasia Type 1
Melena, Vomiting, Diarrhea, Gastroesophageal reflux, Nausea, Constipation, Hematemesis, Anorexia,... ORPHA:652
Wiskott-Aldrich Syndrome
Hematochezia, Inflammation of the large intestine, Sepsis, Hematemesis, Meningitis, Recurrent res... ORPHA:906
Rothmund-Thomson Syndrome
Nasogastric tube feeding in infancy, Vomiting, Diarrhea ORPHA:2909
Sapho Syndrome
Inflammation of the large intestine, Malabsorption, Steatorrhea, Abdominal pain, Chronic diarrhea ORPHA:793
Rothmund-Thomson Syndrome Type 2
Functional abnormality of the gastrointestinal tract, Vomiting, Diarrhea, Nasogastric tube feeding ORPHA:221016
Peutz-Jeghers Syndrome
Abdominal pain, Intestinal bleeding, Bloody diarrhea OMIM:175200
Lysinuric Protein Intolerance
Hepatic failure, Vomiting, Diarrhea, Recurrent bacterial infections, Feeding difficulties, Steato... ORPHA:470
Helsmoortel-Van Der Aa Syndrome
Gastroesophageal reflux, Recurrent urinary tract infections, Constipation, Episodic vomiting, Rec... OMIM:615873
Kawasaki Disease
Diarrhea, Nausea and vomiting, Abdominal pain, Recurrent pharyngitis, Meningitis ORPHA:2331
Liver Disease, Severe Congenital
Dependency on parenteral nutrition, Hepatic failure, Diarrhea, Sepsis, Vomiting, Recurrent urinar... OMIM:619991
Dyskeratosis Congenita, Autosomal Dominant 2
Chronic diarrhea OMIM:613989
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Right ventricular dilatation, Abnormal mitral valve morphology ORPHA:99103
Yellow Fever
Vomiting, Diarrhea, Opportunistic infection, Nausea, Hematemesis, Abdominal pain ORPHA:99829
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Bloody diarrhea, Recurrent abscess formation ORPHA:436252
Deeah Syndrome
Exocrine pancreatic insufficiency, Malabsorption, Chronic constipation, Chronic diarrhea, Dysphagia OMIM:619004
Idiopathic Hypereosinophilic Syndrome
Vomiting, Malabsorption, Colitis, Feeding difficulties in infancy, Abdominal distention, Abdomina... ORPHA:3260
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Colitis, Bloody diarrhea ORPHA:90068
Dubowitz Syndrome
Recurrent infections, Malabsorption, Chronic diarrhea ORPHA:235
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Chronic diarrhea, Chronic constipation OMIM:619005
Glycogen Storage Disease Ia
Intermittent diarrhea, Protuberant abdomen OMIM:232200
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Gastroesophageal reflux, Chronic diarrhea ORPHA:3164
Diamond-Blackfan Anemia 21
Chronic diarrhea OMIM:620072
Multiple Endocrine Neoplasia Type 2
Constipation, Diarrhea, Abdominal distention ORPHA:653
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Diarrhea, Poor appetite ORPHA:247598
Chikungunya
Vomiting, Diarrhea, Infectious encephalitis ORPHA:324625
Gitelman Syndrome
Abdominal pain, Diarrhea, Nausea and vomiting, Constipation ORPHA:358
Ataxia-Telangiectasia
Recurrent lower respiratory tract infections, Chronic diarrhea, Recurrent bronchitis OMIM:208900
Crimean-Congo Hemorrhagic Fever
Hepatic failure, Diarrhea, Melena, Parotitis, Nausea and vomiting, Hematemesis, Anorexia, Abdomin... ORPHA:99827
Nijmegen Breakage Syndrome
Recurrent pneumonia, Chronic diarrhea, Recurrent sinopulmonary infections, Recurrent respiratory ... ORPHA:647
Abetalipoproteinemia
Steatorrhea, Vomiting, Chronic diarrhea, Fat malabsorption ORPHA:14
Steinert Myotonic Dystrophy
Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Feeding difficulties in infan... ORPHA:273
Leptospirosis
Diarrhea, Nausea and vomiting, Abdominal pain, Anorexia, Meningitis ORPHA:509
Bartter Syndrome, Type 1, Antenatal
Vomiting, Diarrhea, Constipation OMIM:601678
Scorpion Envenomation
Abdominal pain, Vomiting, Diarrhea ORPHA:466677
Multiple Endocrine Neoplasia Type 4
Episodic abdominal pain, Diarrhea, Esophagitis ORPHA:276152
Autoinflammatory Disease, Systemic, With Vasculitis
Abdominal pain, Diarrhea, Colitis, Parotitis OMIM:620376
Pearson Syndrome
Hepatic failure, Exocrine pancreatic insufficiency, Severe infection, Steatorrhea, Chronic diarrh... ORPHA:699
Proximal Renal Tubular Acidosis
Vomiting, Diarrhea, Malabsorption ORPHA:47159
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Diarrhea, Sepsis, Xerostomia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal i... ORPHA:95455
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Right ventricular dilatation ORPHA:70591
Trichohepatoenteric Syndrome 1
Intractable diarrhea, Hepatic failure OMIM:222470
Acute Liver Failure
Vomiting, Gastrointestinal hemorrhage, Diarrhea, Nausea ORPHA:90062
Ectodermal Dysplasia-Skin Fragility Syndrome
Recurrent pneumonia, Sepsis, Chronic diarrhea ORPHA:158668
Bartter Syndrome, Type 2, Antenatal
Vomiting, Diarrhea, Constipation OMIM:241200
Lipodystrophy, Familial Partial, Type 7
Vomiting, Diarrhea, Dysphagia, Feeding difficulties OMIM:606721
Juvenile Polyposis Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Brain abscess, Abdominal pain ORPHA:2929
Mucopolysaccharidosis Type 2, Severe Form
Recurrent upper respiratory tract infections, Chronic diarrhea, Recurrent ear infections ORPHA:217085
Mucopolysaccharidosis Type 2
Recurrent upper respiratory tract infections, Chronic diarrhea, Recurrent ear infections ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Recurrent upper respiratory tract infections, Chronic diarrhea, Recurrent ear infections ORPHA:217093
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroesophageal reflux, Gastroparesis, Gastrostomy tube feeding in infancy, Gastrointestinal dys... ORPHA:500150
Zttk Syndrome
Feeding difficulties in infancy, Chronic diarrhea, Feeding difficulties OMIM:617140
Nmda Receptor Encephalitis
Vomiting, Diarrhea ORPHA:217253
Cerebrotendinous Xanthomatosis
Chronic diarrhea ORPHA:909
Aspartylglucosaminuria
Recurrent respiratory infections, Diarrhea OMIM:208400
Occipital Horn Syndrome
Chronic diarrhea OMIM:304150
African Trypanosomiasis
Nausea, Vomiting, Diarrhea ORPHA:3385
Viss Syndrome
Coronary sinus enlargement, Right ventricular hypertrophy, Mitral valve prolapse, Ventricular sep... OMIM:619472
Cutis Laxa, Autosomal Recessive, Type Ib
Right ventricular dilatation OMIM:614437
Cushing Syndrome Due To Ectopic Acth Secretion
Recurrent cutaneous fungal infections, Diarrhea, Anorexia ORPHA:99889
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Intermittent diarrhea, Feeding difficulties ORPHA:2255

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 Gsdmd

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 Gsdmd.

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

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
Gsdmdtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Gsdmdem1(IMPC)Marc Deletion Mice
Gsdmdtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gsdmdtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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