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Gene: Gsdmd MGI:1916396

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Gene Summary

Name:
gasdermin D
Synonyms:
1810036L03Rik,  DF5L,  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

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
Diarrhea, Abdominal pain OMIM:612119
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Diarrhea, Chronic diarrhea, Recurrent infections OMIM:614102
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
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
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Lactose Intolerance, Adult Type
Flatulence, Diarrhea, Abdominal pain OMIM:223100
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Recurrent bacterial inf... OMIM:605258
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Recurrent bacterial infections, Increased circulating IgM... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Recurrent bacterial in... OMIM:606843
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Complement Component 4B Deficiency
Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Meningitis OMIM:614379
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infections OMIM:146830
Immunodeficiency 104
Recurrent opportunistic infections, Diarrhea, Chronic mucocutaneous candidiasis, Gastroesophageal... OMIM:608971
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Rabies
Nausea and vomiting, Recurrent pharyngitis, Diarrhea, Anorexia ORPHA:770
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial in... OMIM:613500
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting OMIM:610370
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain OMIM:222900
Diarrhea 9
Diarrhea OMIM:618168
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation ORPHA:160148
Immunodeficiency 19
Recurrent otitis media, Recurrent respiratory infections, Chronic diarrhea, Severe viral infection OMIM:615617
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to... OMIM:613502
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent bacterial infections, Recurrent otitis media, Recurrent lower respiratory tra... OMIM:613501
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Immunodeficiency 48
Recurrent respiratory infections, Diarrhea, Recurrent candida infections OMIM:269840
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Brunner Syndrome
Diarrhea OMIM:300615
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to... OMIM:612692
Hirschsprung Disease
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Diarrhea, Sepsis, Functional abnorma... 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
Feeding difficulties in infancy, Diarrhea, Vomiting OMIM:606528
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... OMIM:619446
Solitary Rectal Ulcer Syndrome
Abdominal pain, Tenesmus, Hematochezia, Chronic constipation, Episodic abdominal pain, Bloody dia... ORPHA:209964
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic diarrhea, Sepsis, Chronic oral candidiasis, Meningitis OMIM:616740
Lactase Deficiency, Congenital
Diarrhea OMIM:223000
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Diarrhea ORPHA:231
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Erythroderma Desquamativum
Diarrhea ORPHA:314
Immunodeficiency 33
Recurrent bacterial infections, Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Vomiting, Diarrhea OMIM:615863
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea OMIM:251850
Coproporphyria, Hereditary
Constipation, Vomiting, Diarrhea, Abdominal pain OMIM:121300
Enterokinase Deficiency
Diarrhea OMIM:226200
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Inflammation of the large intestine, Crohn's disease, Mucoid di... OMIM:615767
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Abdominal pain OMIM:620137
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Esophagitis OMIM:619079
Immunodeficiency 15B
Chronic oral candidiasis, Chronic diarrhea, Recurrent infections OMIM:615592
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Constipation, Vomiting, Enterocolitis OMIM:142623
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Anorexia, Diarrhea, Recurrent pneumonia, Recurrent candida infections, Recurren... ORPHA:169160
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Recurrent aphthous stomatitis, Recurrent... OMIM:613960
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Diarrhea, Recurrent opportunistic infections, Meningitis, Failure to thrive secondary to recurren... OMIM:601457
Immunodeficiency, Common Variable, 2
Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent oti... OMIM:240500
Diarrhea 13
Secretory diarrhea, Vomiting OMIM:620357
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Chronic ... OMIM:615207
Immunodeficiency 76
Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis OMIM:619164
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic diarrhea, Recurrent... OMIM:614699
Immunodeficiency 11B With Atopic Dermatitis
Chronic diarrhea, Ulcerative colitis, Severe cytomegalovirus infection, Colonic eosinophilia, Dis... OMIM:617638
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Feeding difficulties OMIM:620270
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting ORPHA:30925
Immunodeficiency, Common Variable, 1
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Decreased circulat... OMIM:607594
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Steatorrhea OMIM:613291
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Persistent CMV viremia, Dia... OMIM:618495
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting OMIM:619445
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Recurrent infections OMIM:229050
Immunodeficiency 7
Recurrent respiratory infections, Severe varicella zoster infection, Diarrhea, Persistent EBV vir... OMIM:615387
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent pneum... ORPHA:277
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
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Secretory diarrhea, Recurrent bronchiolitis, Vomiting OMIM:616069
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties OMIM:619971
Hyaline Fibromatosis Syndrome
Diarrhea, Recurrent infections OMIM:228600
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Chylomicron Retention Disease
Diarrhea, Malnutrition, Vomiting, Steatorrhea OMIM:246700
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Enteric Anendocrinosis
Diarrhea, Vomiting ORPHA:83620
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Feeding difficulties in infancy, Recurrent respiratory infections, Diarrhea, Vomiting OMIM:264350
Immunodeficiency 69
BCGosis, Diarrhea OMIM:618963
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea OMIM:613217
Cog7-Cdg
Diarrhea, Feeding difficulties, Recurrent infections ORPHA:79333
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Attrv30M Amyloidosis
Diarrhea, Constipation ORPHA:85447
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea OMIM:606824
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea ORPHA:103910
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Recurre... OMIM:614069
Reticular Dysgenesis
Recurrent respiratory infections, Diarrhea, Sepsis ORPHA:33355
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Recurrent respiratory infections, Diarrhea ORPHA:90035
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, ... OMIM:619281
Complement Factor B Deficiency
Recurrent bacterial infections, Recurrent meningococcal disease OMIM:615561
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Diarrhea, Gastritis, Inflammation of the large intestine OMIM:618108
Cholesteryl Ester Storage Disease
Nausea and vomiting, Diarrhea, Hepatic failure ORPHA:75234
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Chronic diarrhea, Recurrent infections OMIM:615285
Severe Combined Immunodeficiency, X-Linked
Recurrent bacterial meningitis, Recurrent pneumonia, Chronic diarrhea, Recurrent fungal infection... OMIM:300400
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Diarrhea, Recurre... ORPHA:572
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Vascular Hyalinosis
Hematochezia, Diarrhea OMIM:277175
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Diarrhea, Vomiting, Feeding difficulties OMIM:612075
Neuroendocrine Tumor Of The Rectum
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... ORPHA:100082
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Increased ci... OMIM:243700
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Glutaric Aciduria Iii
Diarrhea, Vomiting OMIM:231690
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Invasive f... ORPHA:83471
Sandhoff Disease, Juvenile Form
Diarrhea, Constipation, Dysphagia ORPHA:309162
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:1267
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Chronic diarrhea, Steatorrhea ORPHA:309108
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Decreased circulating antibody level, Agam... OMIM:601495
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Diarrhea, Sepsis, Mening... ORPHA:229717
Central Diabetes Insipidus
Nausea and vomiting, Diarrhea, Anorexia ORPHA:178029
Hereditary Folate Malabsorption
Nausea and vomiting, Recurrent respiratory infections, Recurrent urinary tract infections, Anorex... ORPHA:90045
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Poor appetite, Diarrhea, Recurrent infections, Dysphagia, Nausea ORPHA:352447
Typhoid
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Constipation, Infectious encephalitis ORPHA:99745
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Sepsis, Melena, Vomiting, D... ORPHA:319218
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:228371
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Abnormal immunoglobulin level, Severe recurrent varicella, R... ORPHA:276
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Sepsis, Enterocolitis... ORPHA:95427
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Abdomin... ORPHA:486
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Poor appetite, Abdominal pain, Abdominal distention, Gastrointestin... ORPHA:298
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Immunodeficiency 40
Severe varicella zoster infection, Recurrent pneumonia, Chronic diarrhea, Chronic oral candidiasi... OMIM:616433
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting ORPHA:35710
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Recurrent respiratory infections, Chronic diarrhea OMIM:618523
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea ORPHA:29822
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... ORPHA:2688
Congenital Disorder Of Glycosylation, Type Iij
Recurrent respiratory infections, Chronic diarrhea, Feeding difficulties, Hepatic failure, Recurr... OMIM:613489
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Recu... OMIM:300291
Trichohepatoenteric Syndrome 2
Chronic diarrhea, Diarrhea, Colitis, Bloody diarrhea OMIM:614602
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Invasive fungal infection, Recurrent mycobacterial infections, C... ORPHA:98813
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Recurrent herpes, Chronic diarrhea OMIM:607271
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Intellectual Developmental Disorder, Autosomal Dominant 51
Chronic diarrhea, Feeding difficulties, Chronic constipation, Recurrent otitis media, Poor suck OMIM:617788
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... ORPHA:911
Eosinophilic Gastroenteritis
Abdominal pain, Diarrhea, Steatorrhea, Hematochezia, Vomiting, Dysphagia ORPHA:2070
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Nausea ORPHA:927
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, De... OMIM:308230
Radiation Proctitis
Intestinal obstruction, Diarrhea, Sepsis, Tenesmus, Hematochezia ORPHA:70475
Neuroendocrine Tumor Of The Colon
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Protracted diarrh... ORPHA:100080
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Nausea OMIM:176000
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Diarrhea, Recurrent upper respiratory tract infections, Sepsis, Crohn's disea... OMIM:616100
Meconium Ileus
Chronic diarrhea, Meconium ileus OMIM:614665
Cog4-Cdg
Neonatal sepsis, Fatal liver failure in infancy, Recurrent upper respiratory tract infections, Fe... ORPHA:263501
Alg1-Cdg
Chronic diarrhea, Sepsis, Decreased liver function, Recurrent infections ORPHA:79327
Porphyria Due To Ala Dehydratase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic vomiting, Nausea ORPHA:100924
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Diarrhea, Sepsis, Recurrent infections, Meningitis ORPHA:33110
Immunodeficiency 9
Chronic diarrhea, BCGitis, Recurrent infections, Recurrent aphthous stomatitis, Stomatitis OMIM:612782
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Vomiting, Nasogastric tube feeding ORPHA:289504
Pancreatoblastoma
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:677
Rapadilino Syndrome
Diarrhea, Feeding difficulties OMIM:266280
Cutaneous Mastocytoma
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79455
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Recurrent respiratory infections, Diarrhea, Gastritis ORPHA:2575
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Chronic d... OMIM:242700
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Gastrointestinal dysmotility, Hyper... OMIM:603041
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Feeding difficulties OMIM:177735
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media, Intractable ... OMIM:617475
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Recurrent sinusitis OMIM:617765
Thrombotic Thrombocytopenic Purpura
Diarrhea, Abdominal pain ORPHA:54057
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Chronic diarrhea, Ulcerative colitis, Colitis, Crohn's disease OMIM:618394
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver function ORPHA:79319
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
Nk-Cell Enteropathy
Abdominal pain, Diarrhea, Hematochezia, Constipation, Gastroesophageal reflux ORPHA:263665
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Anorexia ORPHA:49827
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Nausea, Recurrent infections OMIM:615084
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... ORPHA:411703
Immunodeficiency 25
Recurrent herpes, Recurrent pneumonia, Recurrent candida infections, Protracted diarrhea OMIM:610163
Autoinflammatory-Pancytopenia Syndrome
Chronic diarrhea, Intestinal inflammation, Severe Epstein Barr virus infection OMIM:619858
Congenital-Onset Steinert Myotonic Dystrophy
Abdominal pain, Encopresis, Diarrhea, Constipation, Gastroesophageal reflux, Dysphagia ORPHA:589821
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Abdominal pain, Diarrhea, Recurrent infections, Vomiting, Recurrent lower... OMIM:226300
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Meningitis, Secretory diarrhea, Enterocolitis, Episodic vomiting OMIM:616050
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Chronic diarrhea, Anorexia, Abdominal pain ORPHA:65682
Classic Galactosemia
Diarrhea, Sepsis, Feeding difficulties, Vomiting, Hepatic failure ORPHA:79239
Necrotizing Enterocolitis
Neonatal sepsis, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting ORPHA:391673
Bile Acid Synthesis Defect, Congenital, 2
Diarrhea, Hepatic failure, Steatorrhea OMIM:235555
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh... ORPHA:67
Congenital Toxoplasmosis
Diarrhea ORPHA:858
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Diarrhea, Recurrent upper respiratory tract infections, Sepsis, Recurrent can... ORPHA:436159
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Bowel urgency, Poor appetite, Anorexia, Hematemesis, Lack of bowel sounds, B... ORPHA:100075
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... ORPHA:331235
American Trypanosomiasis
Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia, Infectious encephalitis ORPHA:3386
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic diarrh... OMIM:116920
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Chronic diarrhea, Persistent EBV viremia, Vomiting, Tube feeding OMIM:619510
Lassa Fever
Nausea and vomiting, Abdominal pain, Diarrhea, Sepsis, Dysphagia ORPHA:99824
Immunodeficiency 22
Diarrhea, Recurrent upper respiratory tract infections, Protracted diarrhea, Chronic oral candidi... OMIM:615758
Hyperprolinemia Type 2
Diarrhea, Feeding difficulties, Dysphagia, Abdominal pain ORPHA:79101
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Recurrent respiratory infections, Diarrhea ORPHA:1842
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hematochezia, Vomiting OMIM:175500
Cold Agglutinin Disease
Nausea and vomiting, Diarrhea ORPHA:56425
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur... ORPHA:343
Agammaglobulinemia 8B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Recurrent infections OMIM:619824
Methanol Poisoning
Diarrhea, Vomiting, Abdominal pain ORPHA:31825
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea OMIM:300215
Aa Amyloidosis
Abdominal pain, Chronic diarrhea, Malnutrition, Vomiting, Nausea ORPHA:85445
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, BCGosis, Recurrent pneumonia, Severe viral infection, Extrapulmonary tuber... OMIM:619644
Galactosemia I
Diarrhea, Vomiting, Decreased liver function OMIM:230400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Recurrent viral infections, Recurrent upper respiratory tract infections, Chroni... ORPHA:169154
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Chronic diarrhea, Persisten... OMIM:616005
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding OMIM:607906
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Diarrhea, Abdominal pain ORPHA:54251
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting ORPHA:79456
Dengue Fever
Nausea and vomiting, Diarrhea, Gastrointestinal hemorrhage, Abdominal pain ORPHA:99828
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Recurrent ear infections, Recurrent viral infections, Diarrhea,... ORPHA:79124
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting OMIM:142680
Kaposi Sarcoma
Recurrent herpes, Diarrhea ORPHA:33276
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... OMIM:618131
Snakebite Envenomation
Pseudobulbar paralysis, Neuromuscular dysphagia, Vomiting, Diarrhea ORPHA:449285
Middle Ear Neuroendocrine Tumor
Chronic diarrhea ORPHA:100084
Mucopolysaccharidosis, Type Iiib
Diarrhea, Recurrent upper respiratory tract infections OMIM:252920
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... ORPHA:469
Immunodeficiency 27A
Diarrhea, Anorexia OMIM:209950
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Diarrhea, Vomiting, Decreased liver function OMIM:608104
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Abdominal pain, Diarrhea,... OMIM:619802
Omenn Syndrome
Recurrent bacterial infections, Diarrhea, Recurrent fungal infections, Recurrent viral infections OMIM:603554
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Feeding difficulties in infancy, Diarrhea, Constipation, ... OMIM:223900
Familial Glucocorticoid Deficiency
Recurrent urinary tract infections, Anorexia, Diarrhea, Episodic abdominal pain, Recurrent infect... ORPHA:361
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Yao Syndrome
Diarrhea, Xerostomia, Abdominal pain OMIM:617321
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Diarrhea, Vomiting, Decreased liver function ORPHA:42
Mucopolysaccharidosis, Type Iiia
Diarrhea, Recurrent upper respiratory tract infections OMIM:252900
Proprotein Convertase 1/3 Deficiency
Diarrhea OMIM:600955
Cronkhite-Canada Syndrome
Diarrhea, Anorexia, Abdominal pain ORPHA:2930
Sepsis In Premature Infants
Neonatal sepsis, Disseminated viral infection, Abdominal distention, Severe infection, Gastrointe... ORPHA:90051
Graft Versus Host Disease
Abdominal pain, Diarrhea, Gastrointestinal inflammation, Recurrent infections, Vomiting, Recurren... ORPHA:39812
Legionnaires Disease
Nausea and vomiting, Anorexia, Abdominal pain, Recurrent pharyngitis, Diarrhea, Sepsis, Infectiou... ORPHA:549
Ethylmalonic Encephalopathy
Diarrhea ORPHA:51188
Congenital Disorder Of Glycosylation, Type Ib
Diarrhea, Hepatic failure, Vomiting, Steatorrhea OMIM:602579
Blue Diaper Syndrome
Diarrhea ORPHA:94086
Microvillus Inclusion Disease
Abdominal distention, Diarrhea ORPHA:2290
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting, Steatorrhea ORPHA:71
Adiposis Dolorosa
Constipation, Xerostomia, Diarrhea ORPHA:36397
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Recurrent upper respiratory tract infections, Chronic diarrhea, Recurrent... OMIM:600802
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Abdominal pain, Diarrhea, Recurrent bacterial infections, Meningitis ORPHA:36412
Boutonneuse Fever
Diarrhea, Nausea, Abdominal pain ORPHA:83313
Congenital Disorder Of Glycosylation, Type Id
Diarrhea, Vomiting OMIM:601110
Hyper-Igd Syndrome
Abdominal pain, Diarrhea, Chronic diarrhea, Recurrent infections, Vomiting, Chronic oral candidia... OMIM:260920
Carnitine Deficiency, Systemic Primary
Diarrhea, Vomiting OMIM:212140
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea, Abdominal cramps, Decreased live... ORPHA:98850
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Functional intestinal obstruction, Mechanical ileus, Bowel ... ORPHA:100079
Bacterial Toxic-Shock Syndrome
Recurrent urinary tract infections, Abdominal pain, Severe varicella zoster infection, Meningitis... ORPHA:36234
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Chronic gastritis, Abdominal pain, Diarrhea, Chronic constipati... OMIM:301074
Immunodeficiency 17
Recurrent respiratory infections, Chronic diarrhea, Recurrent gastroenteritis, Chronic oral candi... OMIM:615607
Mucopolysaccharidosis, Type Iiic
Diarrhea, Recurrent upper respiratory tract infections, Dysphagia OMIM:252930
Shigellosis
Anorexia, Abdominal pain, Peritonitis, Sepsis, Ulcerative colitis, Bloody diarrhea, Paralytic ile... ORPHA:810
Good Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Diarrhea, Dysphagia ORPHA:169105
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea OMIM:619849
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Vomiting OMIM:560000
Neuropathy, Hereditary Sensory And Autonomic, Type V
Diarrhea, Constipation OMIM:608654
Avian Influenza
Abdominal pain, Diarrhea, Sepsis, Vomiting, Meningitis, Infectious encephalitis ORPHA:454836
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia ORPHA:1332
Encephalopathy, Ethylmalonic
Chronic diarrhea, Feeding difficulties OMIM:602473
Familial Mediterranean Fever
Abdominal pain, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic constipation, Vomiting, C... OMIM:249100
Acquired Hypertrichosis Lanuginosa
Chronic diarrhea, Poor appetite ORPHA:2221
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Feeding difficulties OMIM:255120
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Gastroe... ORPHA:85450
Satoyoshi Syndrome
Diarrhea OMIM:600705
Immunodeficiency 92
Recurrent oral herpes, Persistent CMV viremia, BCGosis, Chronic diarrhea, Esophagitis OMIM:619652
Young-Onset Parkinson Disease
Diarrhea, Constipation, Nausea, Gastroparesis ORPHA:2828
Wild Type Attr Amyloidosis
Intermittent diarrhea, Gastrointestinal dysmotility, Chronic diarrhea, Bowel incontinence ORPHA:330001
Bile Acid Synthesis Defect, Congenital, 1
Diarrhea, Hepatic failure, Steatorrhea OMIM:607765
Car T Cell Therapy-Associated Cytokine Release Syndrome
Diarrhea, Vomiting, Nausea, Poor appetite ORPHA:542323
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent pneumonia, Chronic diarrhea, Sepsis, Meningitis ORPHA:47
Immunodeficiency 31C
Recurrent respiratory infections, Diarrhea, Coccidioidomycosis, Chronic mucocutaneous candidiasis... OMIM:614162
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Poor appetite, Recurrent candida infections OMIM:201100
Ppoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97278
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Meningitis, Recurrent p... OMIM:300755
Alg8-Cdg
Diarrhea, Vomiting, Feeding difficulties ORPHA:79325
Congenital Tufting Enteropathy
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Vomiting, Steatorrhea ORPHA:92050
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Diarrhea, Hepatic failure, Steatorrhea OMIM:613812
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Chronic diarrhea, Abdominal pain OMIM:617099
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Protracted diarrhea, Recurrent bacterial infections, Recurrent fungal... ORPHA:331206
Fabry Disease
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea OMIM:301500
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Abdominal pain OMIM:106100
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ... OMIM:606367
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Severe cytomegalovirus infection, Diarrhea OMIM:619313
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea OMIM:618805
Cholesteryl Ester Storage Disease
Acute hepatic failure, Diarrhea, Vomiting, Protuberant abdomen, Steatorrhea, Hepatic failure OMIM:278000
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Recurrent pneumonia, Chronic diarrhea, Seps... OMIM:614700
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea OMIM:619484
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea OMIM:601847
Carcinoid Syndrome
Nausea and vomiting, Lack of bowel sounds, Protracted diarrhea, Episodic abdominal pain ORPHA:100093
B4Galt1-Cdg
Diarrhea ORPHA:79332
Wiskott-Aldrich Syndrome
Recurrent herpes, Hematemesis, Diarrhea, Recurrent upper respiratory tract infections, Recurrent ... OMIM:301000
Relapsing Fever
Diarrhea, Vomiting, Abdominal pain ORPHA:91547
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent viral infections, Diarrhea, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneou... OMIM:102700
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Diarrhe... ORPHA:221139
Microscopic Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Peritonitis, Gastroin... ORPHA:727
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea OMIM:211600
Familial Pancreatic Carcinoma
Nausea and vomiting, Functional intestinal obstruction, Intestinal pseudo-obstruction, Poor appet... ORPHA:1333
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Abdominal pain, Severe infection, Diarrhea, Secretory diarrhea, Severe viral infec... ORPHA:544482
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Recurrent pneumonia, Bloody diarrhea, Recurrent infections, Hematochezia, Inflammation of the lar... OMIM:617718
Hereditary Angioedema Type 1
Abdominal pain, Diarrhea, Vomiting, Dysphagia, Nausea ORPHA:100050
Dpm1-Cdg
Diarrhea, Gastrostomy tube feeding in infancy ORPHA:79322
Celiac Disease, Susceptibility To, 1
Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Recurrent aphthous stomatitis, Steatorr... OMIM:212750
Congenital Myopathy 20
Chronic diarrhea OMIM:620310
Amyloidosis, Hereditary, Transthyretin-Related
Episodic vomiting, Diarrhea, Constipation OMIM:105210
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea OMIM:608643
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Recurrent infections OMIM:300953
Whipple Disease
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea, Infectious encephalitis ORPHA:3452
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Sepsis, Constipation ORPHA:199299
Somatostatinoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97283
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diarrhea, Vomiting ORPHA:3240
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, Recurrent upper respiratory tract infections, Sepsis, Chronic diarrh... OMIM:233600
Stevens-Johnson Syndrome
Acute hepatic failure, Recurrent respiratory infections, Nausea and vomiting, Gastrointestinal he... ORPHA:36426
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Diarrhea, Vomiting ORPHA:263455
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea OMIM:614328
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Diarrhea, Per... ORPHA:342
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Diarrhea, Steatorrhea, Recurrent infections OMIM:617941
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insuffi... ORPHA:309031
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Diarrhea, Vomiting, Nausea, Recurrent infections ORPHA:79240
Glucagonoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97280
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Diarrhea, Atrophic gastritis, Chronic mucocutaneous candidiasis, Chronic oral candidiasis OMIM:240300
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Abdominal pain OMIM:174900
Familial Hypoaldosteronism
Nausea and vomiting, Diarrhea, Feeding difficulties ORPHA:427
Zygomycosis
Gastrointestinal hemorrhage, Brain abscess, Unusual skin infection, Gastritis, Abdominal pain, He... ORPHA:73263
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Recurrent viral infections, Recurrent opportunistic infections,... ORPHA:35078
Carney Triad
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea ORPHA:139411
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea OMIM:602347
Grfoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97261
Systemic Capillary Leak Syndrome
Diarrhea, Abdominal pain ORPHA:188
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... ORPHA:79276
Mucopolysaccharidosis, Type Ii
Recurrent otitis media, Diarrhea, Recurrent pneumonia, Intestinal pseudo-obstruction OMIM:309900
Lujo Hemorrhagic Fever
Fulminant hepatitis, Odynophagia, Severe viral infection, Diarrhea, Vomiting, Abdominal cramps, D... ORPHA:319213
Pediatric Systemic Lupus Erythematosus
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:93552
Immunodeficiency 55
Diarrhea, Recurrent infections OMIM:617827
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Chronic diarrhea, Recurrent infections OMIM:614576
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea ORPHA:100085
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea OMIM:242860
Mevalonic Aciduria
Diarrhea, Vomiting, Recurrent infections OMIM:610377
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Vomiting, Nausea, Recurrent infections ORPHA:264580
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Abdominal pain, Recurrent pharyngitis, Diarrhea, Peritonitis, Constipatio... ORPHA:32960
Cholera
Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting ORPHA:173
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:301220
Acute Radiation Syndrome
Diarrhea, Vomiting ORPHA:454831
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Secretory diarrhea OMIM:614441
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Vomiting ORPHA:71212
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Severe infection, Chronic diarrhea, Ileus OMIM:304790
Mirage Syndrome
Recurrent urinary tract infections, Chronic diarrhea, Sepsis, Recurrent bacterial infections, Gas... OMIM:617053
Fructose-1,6-Bisphosphatase Deficiency
Reye syndrome-like episodes, Diarrhea, Vomiting ORPHA:348
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Feeding difficulties in infancy, Chronic diarrhea, Gastroesopha... OMIM:613385
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Recurrent otitis media... OMIM:620233
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Intestinal obstruction, Enterocolitis, Bloody diarrhea, Hematoc... OMIM:243150
Biotinidase Deficiency
Feeding difficulties in infancy, Diarrhea, Vomiting OMIM:253260
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Chronic diarrhea, Recurrent upper respiratory tract infections, Sepsis, BCGitis OMIM:602450
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Vomiting OMIM:610768
Pediatric-Onset Graves Disease
Nausea and vomiting, Diarrhea ORPHA:525731
Serotonin Syndrome
Diarrhea, Hepatic failure, Nausea ORPHA:43116
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Diarrhea, Episodic vomiting, Vomiting OMIM:618321
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Diarrhea, Anorexia, Recurrent infections ORPHA:33226
Intellectual Developmental Disorder, Autosomal Dominant 57
Intermittent diarrhea, Diarrhea, Constipation, Feeding difficulties OMIM:618050
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea ORPHA:324636
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... ORPHA:275761
Houge-Janssens Syndrome 1
Chronic diarrhea OMIM:616355
Neuroblastoma, Susceptibility To, 1
Diarrhea, Abdominal pain OMIM:256700
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea... ORPHA:2131
Omenn Syndrome
Chronic diarrhea, Sepsis ORPHA:39041
Primary Intestinal Lymphangiectasia
Abdominal pain, Cryptococcal meningitis, Chronic diarrhea, Functional abnormality of the gastroin... ORPHA:90362
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Gastritis, Ileus, Secretory diarrhea, Sepsis, Recurrent infecti... ORPHA:37042
Transcobalamin Ii Deficiency
Diarrhea, Vomiting OMIM:275350
Acute Adrenal Insufficiency
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Constipation, Recurrent acute respirator... ORPHA:95409
Mucopolysaccharidosis, Type Iiid
Diarrhea, Recurrent upper respiratory tract infections, Dysphagia, Recurrent otitis media, Tube f... OMIM:252940
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Chronic diarrhea, Feeding difficulties, Steatorrhea ORPHA:2176
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Acute colitis ORPHA:90038
Listeriosis
Brain abscess, Unusual skin infection, Abdominal pain, Meningitis, Diarrhea, Peritonitis, Unusual... ORPHA:533
Beta-Ketothiolase Deficiency
Diarrhea, Vomiting, Anorexia ORPHA:134
Bronchial Neuroendocrine Tumor
Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Hepatic failure ORPHA:97287
Reactive Arthritis
Recurrent urinary tract infections, Abdominal pain, Diarrhea, Inflammation of the large intestine... ORPHA:29207
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Feeding difficulties in infancy, Diarrhea, Vomiting OMIM:608836
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Abdominal pain, Chronic diarrhea, Hematochezia, Recurrent bacterial infections, Inflammation of t... OMIM:615895
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritability, Recurrent infections, Colitis,... OMIM:619381
Japanese Encephalitis
Anorexia, Abdominal pain, Diarrhea, Vomiting, Meningitis, Infectious encephalitis ORPHA:79139
Cystic Fibrosis
Meconium ileus, Recurrent bronchopulmonary infections, Diarrhea, Recurrent pneumonia, Ileus, Stea... OMIM:219700
Ileal Neuroendocrine Tumor
Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abdominal pain, Intermi... ORPHA:100078
Turcot Syndrome With Polyposis
Abdominal pain, Diarrhea, Hematochezia, Melena, Constipation, Vomiting, Nausea ORPHA:99818
Refractory Celiac Disease
Chronic diarrhea, Malnutrition, Abdominal pain ORPHA:398063
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Feeding difficulties in infancy, Chronic diarrhea, Chronic constipation, Gastroesophageal reflux,... ORPHA:500055
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Recurr... OMIM:251260
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Secretory diarrhea OMIM:270420
Congenital Disorder Of Glycosylation, Type Ia
Feeding difficulties in infancy, Diarrhea, Vomiting, Steatorrhea OMIM:212065
Riddle Syndrome
Abdominal pain, Recurrent viral infections, Diarrhea, Recurrent pneumonia, Recurrent sinusitis ORPHA:420741
Mucoepithelial Dysplasia, Hereditary
Melena, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis OMIM:158310
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Steatorrhea ORPHA:3217
Rat-Bite Fever
Diarrhea, Sepsis, Vomiting, Meningitis, Parotitis ORPHA:31205
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Recurrent herpes, Diarrhea, Recurrent upper respiratory tract i... ORPHA:391487
Citrullinemia Type Ii
Diarrhea, Vomiting ORPHA:247585
Dominant Beta-Thalassemia
Chronic infection, Diarrhea, Feeding difficulties ORPHA:231226
3-Hydroxy-3-Methylglutaric Aciduria
Reye syndrome-like episodes, Diarrhea, Episodic vomiting, Anorexia ORPHA:20
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Hematochezia, Melena, Intestinal bleeding ORPHA:79076
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematemesis, Diarrhea, Bloody diarrhea, Hematochezia, Feeding difficulties, R... OMIM:615846
Colchicine Poisoning
Diarrhea, Vomiting, Nausea ORPHA:31824
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Episodic abdominal pain, Hematoche... ORPHA:913
Melas
Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Vomiting, Constipation ORPHA:550
Microsporidiosis
Brain abscess, Anorexia, Abdominal pain, Peritonitis, Chronic diarrhea, Sepsis, Vomiting, Bronchi... ORPHA:2552
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Vomiting ORPHA:230
Developmental And Epileptic Encephalopathy 50
Diarrhea, Dysphagia OMIM:616457
Familial Gestational Hyperthyroidism
Diarrhea ORPHA:99819
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea OMIM:226730
Osteootohepatoenteric Syndrome
Episodic vomiting, Increased intestinal transit time, Secretory diarrhea, Abdominal pain OMIM:619377
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Reye syndrome-like episodes, Diarrhea, Abdominal distention, Vomiting, Hep... OMIM:256810
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Chronic diarrhea, Recurrent infections OMIM:601675
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea OMIM:167100
Lysinuric Protein Intolerance
Protein avoidance, Diarrhea, Malnutrition, Vomiting, Nausea OMIM:222700
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Malnutrition ORPHA:96180
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Nausea, Abdominal pain ORPHA:98849
Trichohepatoneurodevelopmental Syndrome
Chronic diarrhea, Recurrent infections, Feeding difficulties, Gastroesophageal reflux, Decreased ... OMIM:618268
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Recurrent upper respiratory tract infections, Secretory diarrhea, Feeding difficulties OMIM:618183
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea OMIM:214700
Farber Disease
Chronic diarrhea, Hepatic failure, Recurrent upper respiratory tract infections, Feeding difficul... ORPHA:333
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea ORPHA:424
Beta-Thalassemia Major
Chronic infection, Diarrhea, Feeding difficulties ORPHA:231214
Pearson Marrow-Pancreas Syndrome
Anorexia, Chronic diarrhea, Recurrent infections, Vomiting, Steatorrhea, Hepatic failure, Exocrin... OMIM:557000
Leukocyte Adhesion Deficiency Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent pneumonia, Chronic ... ORPHA:99843
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Diarrhea, Feeding difficulties, Recurrent infections OMIM:618278
Hemorrhagic Fever-Renal Syndrome
Abdominal pain, Hematemesis, Severe infection, Diarrhea, Melena, Vomiting, Nausea ORPHA:340
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Chronic diarrhea, Vomiting OMIM:614921
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Recurrent viral infections, Secretory diarrhea, Se... OMIM:619573
Plague
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Sepsis, Enterocolitis, Bloody diarrhea, Inflamma... ORPHA:707
Mitchell-Riley Syndrome
Diarrhea OMIM:615710
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Recurrent gastroenteritis, Bloody diarrhea ORPHA:294023
Distal Renal Tubular Acidosis
Diarrhea, Constipation, Vomiting, Poor appetite ORPHA:18
Cerebrotendinous Xanthomatosis
Pseudobulbar paralysis, Diarrhea OMIM:213700
Cockayne Syndrome Type 1
Diarrhea ORPHA:90321
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea OMIM:235400
Sandhoff Disease
Chronic diarrhea, Episodic abdominal pain OMIM:268800
Kawasaki Disease
Nausea and vomiting, Abdominal pain, Recurrent pharyngitis, Diarrhea, Meningitis ORPHA:2331
Acrodermatitis Enteropathica
Chronic diarrhea, Poor appetite, Anorexia ORPHA:37
Secondary Intestinal Lymphangiectasia
Abdominal colic, Intestinal obstruction, Chronic diarrhea, Recurrent infections, Intestinal bleed... ORPHA:90363
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Feeding difficulties, Dysphagia OMIM:620358
Multiple Endocrine Neoplasia, Type Iib
Diarrhea, Constipation OMIM:162300
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Chronic diarrhea, Recurrent infection of the gastrointestinal t... OMIM:612132
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Diarrhea, Enterocolitis, Ulcerative colitis, Recurrent bacterial infections, Inflammation of the ... ORPHA:79259
Syndromic Diarrhea
Gastritis, Bloody diarrhea, Recurrent infections, Colitis, Intractable diarrhea, Dependency on in... ORPHA:84064
Rothmund-Thomson Syndrome Type 1
Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Nasogastric tube feeding ORPHA:221008
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Bloody diarrhea, Hematochezia, Melena ORPHA:464321
Immunodeficiency 47
Recurrent bacterial infections, Chronic diarrhea, Exocrine pancreatic insufficiency, Recurrent in... OMIM:300972
Addison Disease
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Constipation ORPHA:85138
Multiple Endocrine Neoplasia, Type I
Diarrhea, Esophagitis OMIM:131100
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Chronic diarrhea ORPHA:457279
Marburg Hemorrhagic Fever
Anorexia, Abdominal pain, Severe infection, Odynophagia, Diarrhea, Bloody diarrhea, Vomiting, Nausea ORPHA:99826
Rothmund-Thomson Syndrome
Nasogastric tube feeding in infancy, Diarrhea, Vomiting ORPHA:2909
Dubowitz Syndrome
Feeding difficulties in infancy, Chronic diarrhea, Recurrent infections, Gastroesophageal reflux,... OMIM:223370
Mednik Syndrome
Diarrhea OMIM:609313
Rothmund-Thomson Syndrome Type 2
Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Nasogastric tube feeding ORPHA:221016
Hurler Syndrome
Recurrent respiratory infections, Chronic diarrhea, Feeding difficulties ORPHA:93473
Malakoplakia
Diarrhea, Abdominal pain ORPHA:556
Alg9-Cdg
Gastroesophageal reflux, Diarrhea, Vomiting ORPHA:79328
Ogden Syndrome
Diarrhea, Dysphagia, Feeding difficulties, Recurrent infections, Vomiting, Tube feeding, Recurren... OMIM:300855
Vipoma
Nausea and vomiting, Poor appetite, Anorexia, Secretory diarrhea, Episodic abdominal pain, Hemato... ORPHA:97282
Multiple Endocrine Neoplasia Type 1
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Melena, Gastroesophageal reflux, Vomiting, Const... ORPHA:652
Chronic Graft Versus Host Disease
Anorexia, Abdominal pain, Diarrhea, Xerostomia, Recurrent infections, Gastroesophageal reflux, Dy... ORPHA:99921
Lysinuric Protein Intolerance
Diarrhea, Feeding difficulties, Recurrent bacterial infections, Vomiting, Steatorrhea, Hepatic fa... ORPHA:470
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Recurrent tonsillitis, Constipation, Protuberant abdomen, Dys... ORPHA:581
Peutz-Jeghers Syndrome
Abdominal pain, Intestinal bleeding, Bloody diarrhea OMIM:175200
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Hematemesis, Chronic diarrhea, Sepsis, Hematochezia, Inflammati... ORPHA:906
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Abdominal distention, Diarrhea, Malnutriti... OMIM:619991
Dyskeratosis Congenita, Autosomal Dominant 2
Chronic diarrhea OMIM:613989
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic diarrhea, Feeding d... OMIM:615873
Yellow Fever
Abdominal pain, Hematemesis, Diarrhea, Vomiting, Opportunistic infection, Nausea ORPHA:99829
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Recurrent abscess formation, Bloody diarrhea ORPHA:436252
Cocaine Intoxication
Abdominal pain, Bloody diarrhea, Gastrointestinal infarctions, Colitis, Vomiting, Nausea ORPHA:90068
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux ORPHA:3164
Glycogen Storage Disease Ia
Intermittent diarrhea, Protuberant abdomen OMIM:232200
Ataxia-Telangiectasia
Recurrent lower respiratory tract infections, Chronic diarrhea, Recurrent bronchitis OMIM:208900
Diamond-Blackfan Anemia 21
Chronic diarrhea OMIM:620072
Multiple Endocrine Neoplasia Type 2
Abdominal distention, Diarrhea, Constipation ORPHA:653
Sapho Syndrome
Inflammation of the large intestine, Chronic diarrhea, Steatorrhea, Abdominal pain ORPHA:793
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Chronic constipation, Chronic diarrhea OMIM:619005
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent pneumonia, Recurrent respiratory infections, Chroni... ORPHA:647
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Diarrhea, Poor appetite ORPHA:247598
Dubowitz Syndrome
Chronic diarrhea, Recurrent infections ORPHA:235
Idiopathic Hypereosinophilic Syndrome
Abdominal pain, Feeding difficulties in infancy, Abdominal distention, Chronic diarrhea, Colitis,... ORPHA:3260
Chikungunya
Diarrhea, Infectious encephalitis, Vomiting ORPHA:324625
Gitelman Syndrome
Nausea and vomiting, Diarrhea, Constipation, Abdominal pain ORPHA:358
Crimean-Congo Hemorrhagic Fever
Nausea and vomiting, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Melena, Hepatic failure, Pa... ORPHA:99827
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Nasoga... ORPHA:273
Deeah Syndrome
Chronic constipation, Chronic diarrhea, Dysphagia, Exocrine pancreatic insufficiency OMIM:619004
Bartter Syndrome, Type 1, Antenatal
Constipation, Vomiting, Diarrhea OMIM:601678
Leptospirosis
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Meningitis ORPHA:509
Multiple Endocrine Neoplasia Type 4
Diarrhea, Esophagitis, Episodic abdominal pain ORPHA:276152
Pearson Syndrome
Severe infection, Chronic diarrhea, Steatorrhea, Dysphagia, Hepatic failure, Poor suck, Exocrine ... ORPHA:699
Scorpion Envenomation
Diarrhea, Vomiting, Abdominal pain ORPHA:466677
Abetalipoproteinemia
Chronic diarrhea, Vomiting, Steatorrhea ORPHA:14
Ectodermal Dysplasia-Skin Fragility Syndrome
Chronic diarrhea, Recurrent pneumonia, Sepsis ORPHA:158668
Bartter Syndrome, Type 2, Antenatal
Constipation, Vomiting, Diarrhea OMIM:241200
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Diarrhea, Xerostomia, Sepsis, Gastroin... ORPHA:95455
Trichohepatoenteric Syndrome 1
Intractable diarrhea, Hepatic failure OMIM:222470
Acute Liver Failure
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea ORPHA:90062
Lipodystrophy, Familial Partial, Type 7
Diarrhea, Feeding difficulties, Vomiting, Dysphagia OMIM:606721
Proximal Renal Tubular Acidosis
Diarrhea, Vomiting ORPHA:47159
Mucopolysaccharidosis Type 2, Severe Form
Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections ORPHA:217085
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Brain abscess, Abdominal pain, Diarrhea, Hematochezia ORPHA:2929
Mucopolysaccharidosis Type 2
Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections ORPHA:217093
Zttk Syndrome
Feeding difficulties in infancy, Chronic diarrhea, Feeding difficulties OMIM:617140
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Chronic diarrhea, R... ORPHA:500150
Nmda Receptor Encephalitis
Diarrhea, Vomiting ORPHA:217253
Cerebrotendinous Xanthomatosis
Chronic diarrhea ORPHA:909
Aspartylglucosaminuria
Recurrent respiratory infections, Diarrhea OMIM:208400
Occipital Horn Syndrome
Chronic diarrhea OMIM:304150
African Trypanosomiasis
Diarrhea, Vomiting, Nausea ORPHA:3385
Cushing Syndrome Due To Ectopic Acth Secretion
Diarrhea, Recurrent cutaneous fungal infections, Anorexia ORPHA:99889
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intermittent diarrhea, Feeding difficulties, Exocrine pancreatic insufficiency ORPHA:2255
Viss Syndrome
Chronic gastritis, Abdominal distention, Chronic diarrhea, Feeding difficulties, Chronic constipa... OMIM:619472

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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