Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

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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
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Recurrent infections OMIM:614102
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Secretory Component Deficiency
Intermittent diarrhea, Chronic intestinal candidiasis OMIM:269650
Immunodeficiency 19
Diarrhea, Recurrent respiratory infections, Recurrent otitis media OMIM:615617
Diarrhea 6
Diarrhea, Abdominal pain OMIM:614616
Lactose Intolerance, Adult Type
Diarrhea, Flatulence, Abdominal pain OMIM:223100
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal colic ORPHA:35122
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level OMIM:242870
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
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
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Diarrhea, Recurrent bronchitis, Recurrent otitis media, Recurrent... OMIM:613501
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Anal Sphincter Dysplasia
Constipation, Diarrhea, Encopresis, Chronic constipation, Bowel incontinence OMIM:105563
Trehalase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal pain ORPHA:103909
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Recurrent sinusitis, Recurrent infections, Recurrent aphthous stomatitis OMIM:613960
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Complement Component 4B Deficiency
Recurrent sinusitis, Meningitis, Recurrent pneumonia, Chronic diarrhea, Recurrent otitis media OMIM:614379
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Immunodeficiency 104
Gastroesophageal reflux, Recurrent opportunistic infections, Diarrhea, Chronic mucocutaneous cand... OMIM:608971
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613500
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... OMIM:300310
Rabies
Anorexia, Nausea and vomiting, Diarrhea, Recurrent pharyngitis ORPHA:770
Paroxysmal Extreme Pain Disorder
Constipation ORPHA:46348
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Enterocolitis, Abdominal pain OMIM:260005
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting OMIM:610370
Diarrhea 9
Diarrhea OMIM:618168
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain OMIM:222900
Subaortic Stenosis, Membranous
Subvalvular aortic stenosis OMIM:271950
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Cap Polyposis
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Hematochezia, Atrophic gastritis ORPHA:160148
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Complement Component 5 Deficiency
Recurrent meningococcal disease, Intractable diarrhea, Recurrent Neisserial infections OMIM:609536
Immunodeficiency 48
Recurrent candida infections, Diarrhea, Recurrent respiratory infections OMIM:269840
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections OMIM:614868
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal distention, Abdominal pain, Vomiting, Nausea, Chronic diarrhea ORPHA:103907
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
Intestinal Dysmotility Syndrome
Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased intestinal t... OMIM:620045
Brunner Syndrome
Diarrhea OMIM:300615
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections OMIM:242850
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent bronchiolitis, Diarrhea, Recurrent pneumonia, Vomiting OMIM:616069
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Hirschsprung Disease
Constipation, Abdominal pain, Sepsis, Diarrhea, Intestinal obstruction, Nausea and vomiting, Func... ORPHA:388
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Vomiting OMIM:606528
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Hematochezia, I... ORPHA:209964
Lactase Deficiency, Congenital
Diarrhea OMIM:223000
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Chron... OMIM:619446
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Meningitis, Chronic diarrhea, Recurrent sinopulmonary infections OMIM:616740
Dracunculiasis
Nausea and vomiting, Diarrhea, Recurrent cutaneous abscess formation ORPHA:231
Primary Peritoneal Carcinoma
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Nausea and vomiting ORPHA:168829
Ménétrier Disease
Gastroesophageal reflux, Abdominal pain, Anorexia, Diarrhea, Vomiting, Helicobacter pylori infect... ORPHA:2494
Immunodeficiency 22
Diarrhea, Recurrent respiratory infections OMIM:615758
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Meningitis, Diarrhea, Recurrent opportunisti... OMIM:601457
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Vomiting, Abdominal colic OMIM:615863
Erythroderma Desquamativum
Diarrhea ORPHA:314
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Protracted diarrhea, Malnutrition OMIM:251850
Immunodeficiency 33
Recurrent bacterial infections, Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Enterokinase Deficiency
Diarrhea OMIM:226200
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Chronic oral candidiasis, Anorexia, Diarrhea, Protracted diarrhea, ... ORPHA:169160
Immunodeficiency, Common Variable, 11
Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea, Recurrent respiratory infe... OMIM:615767
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Impaired Ig cl... OMIM:608184
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Gastritis, Abdominal pain, Pancolitis, Vomiting, Chronic diarrhea, Esophagitis OMIM:619079
Coproporphyria, Hereditary
Diarrhea, Constipation, Vomiting, Abdominal pain OMIM:121300
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Hepatic failure, Recurrent sinusitis, Pneumocy... OMIM:615207
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Anorexia, Diarrhea, Secretory diarrhea, Vomiting OMIM:600351
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Diarrhea, Recurrent sinusitis, Meningitis, Recurrent bronchitis, ... OMIM:240500
Immunodeficiency 76
Recurrent bronchiolitis, Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating antibody level, Decreased circulating IgG l... OMIM:193670
Immunodeficiency 15B
Chronic diarrhea OMIM:615592
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea OMIM:613217
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607594
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Recurrent infections OMIM:229050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Diarrhea, Recurrent opportunistic infections, Recur... ORPHA:277
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent infections, Chron... OMIM:614699
Chylomicron Retention Disease
Diarrhea, Malnutrition, Vomiting, Steatorrhea OMIM:246700
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting ORPHA:30925
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Diarrhea 12, With Microvillus Atrophy
Secretory diarrhea, Abdominal distention, Vomiting, Dependency on parenteral nutrition OMIM:619445
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Steatorrhea OMIM:613291
Immunodeficiency 31C
Diarrhea, Chronic mucocutaneous candidiasis, Recurrent respiratory infections OMIM:614162
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Colitis, Recurrent fungal infections, Recurrent bacterial infecti... OMIM:209920
Hyperphosphatemia, Polyuria, And Seizures
Diarrhea, Vomiting OMIM:239350
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Recurrent respiratory infec... OMIM:618495
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Abdominal pain, Nausea ORPHA:79457
Congenital Short Bowel Syndrome
Abdominal distention, Steatorrhea, Projectile vomiting, Abnormal peristalsis, Vomiting, Decreased... OMIM:615237
Chromosome 19P13.13 Deletion Syndrome
Constipation, Abdominal pain, Feeding difficulties, Diarrhea, Vomiting OMIM:613638
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... ORPHA:275
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Malonyl-Coa Decarboxylase Deficiency
Constipation, Abdominal pain, Diarrhea, Vomiting, Chronic constipation OMIM:248360
Hyaline Fibromatosis Syndrome
Diarrhea, Recurrent infections OMIM:228600
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Gastroesophageal reflux, Malnutrition, Feeding difficulties OMIM:619971
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Diarrhea, Recurrent infections, Recurrent pneumonia, Recurrent aphthous... OMIM:150550
Enteric Anendocrinosis
Diarrhea, Vomiting ORPHA:83620
Immunodeficiency 69
Diarrhea, BCGosis OMIM:618963
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Cog7-Cdg
Diarrhea, Recurrent infections, Feeding difficulties ORPHA:79333
Glutaric Aciduria Iii
Diarrhea, Vomiting OMIM:231690
Mitochondrial Dna Depletion Syndrome 11
Diarrhea, Recurrent infections, Nausea OMIM:615084
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Feeding difficulties in infancy, Diarrhea, Vomiting, Recurrent respiratory infections OMIM:264350
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Glucose/Galactose Malabsorption
Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea OMIM:606824
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Abdominal distention, Hematochezia ORPHA:103910
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Diarrhea, Recurrent respiratory infections ORPHA:90035
Reticular Dysgenesis
Sepsis, Diarrhea, Recurrent respiratory infections ORPHA:33355
Immunodeficiency 14B, Autosomal Recessive
Colitis, Candida esophagitis, Inflammation of the large intestine, Recurrent sinusitis, Recurrent... OMIM:619281
Attrv30M Amyloidosis
Diarrhea, Constipation ORPHA:85447
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent candida infections, Recurrent fungal infections, Recurr... ORPHA:572
Immunodeficiency 57 With Autoinflammation
Diarrhea, Gastritis, Inflammation of the large intestine, Recurrent respiratory infections OMIM:618108
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Cholesteryl Ester Storage Disease
Nausea and vomiting, Diarrhea, Hepatic failure ORPHA:75234
Neuroendocrine Tumor Of The Rectum
Melena, Bowel urgency, Bloody diarrhea, Constipation, Abdominal pain, Hypoactive bowel sounds, La... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Melena, Bowel urgency, Bloody diarrhea, Constipation, Abdominal pain, Hypoactive bowel sounds, La... ORPHA:100082
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nausea, Recurrent infections, Dysphagia, Poor appetite ORPHA:352447
Adult Idiopathic Neutropenia
Recurrent fungal infections, Recurrent bacterial infections, Helicobacter pylori infection, Recur... ORPHA:2688
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Diarrhea, Vomiting, Feeding difficulties OMIM:612075
Vascular Hyalinosis
Diarrhea, Hematochezia OMIM:277175
Intestinal Botulism
Diarrhea, Dysphagia, Nausea and vomiting, Xerostomia ORPHA:178481
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Decreased circulating total IgM, Recurrent bacterial infections, Inc... OMIM:243700
Severe Combined Immunodeficiency, X-Linked
Recurrent fungal infections, Chronic oral candidiasis, Recurrent pneumonia, Chronic diarrhea, Rec... OMIM:300400
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Botulism
Constipation, Abdominal pain, Xerostomia, Diarrhea, Dysphagia, Nausea and vomiting ORPHA:1267
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Chronic diarrhea, Steatorrhea ORPHA:309108
Porphyria
Constipation, Abdominal pain, Anorexia, Diarrhea, Nausea and vomiting ORPHA:738
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulat... OMIM:601495
Thymic Aplasia
Recurrent candida infections, Recurrent streptococcus pneumoniae infections, Recurrent infection ... ORPHA:83471
Isolated Agammaglobulinemia
Sepsis, Diarrhea, Meningitis, Recurrent respiratory infections, Recurrent cutaneous abscess forma... ORPHA:229717
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Colitis, Diarrhea, Inflammation of the large intestine, Recurrent infections, ... OMIM:608809
Hereditary Folate Malabsorption
Gastroesophageal reflux, Anorexia, Diarrhea, Recurrent urinary tract infections, Nausea and vomit... ORPHA:90045
Ebola Hemorrhagic Fever
Melena, Abdominal pain, Sepsis, Diarrhea, Vomiting, Nausea, Dysphagia, Gastrointestinal hemorrhag... ORPHA:319218
Typhoid
Constipation, Abdominal pain, Diarrhea, Infectious encephalitis, Gastrointestinal hemorrhage ORPHA:99745
Congenital Disorder Of Glycosylation, Type Iij
Recurrent infection of the gastrointestinal tract, Feeding difficulties, Hepatic failure, Chronic... OMIM:613489
Foodborne Botulism
Constipation, Abdominal pain, Diarrhea, Xerostomia, Dysphagia, Nausea and vomiting ORPHA:228371
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutaneous fungal infecti... ORPHA:276
Inhalational Botulism
Diarrhea, Nausea and vomiting, Xerostomia, Constipation ORPHA:254504
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Abdominal distention, Abdominal pain, Small intestinal dysmotility, Diar... ORPHA:298
Secondary Short Bowel Syndrome
Constipation, Enterocolitis, Abdominal distention, Steatorrhea, Small intestinal dysmotility, Sep... ORPHA:95427
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... OMIM:300291
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
Central Diabetes Insipidus
Anorexia, Nausea and vomiting, Diarrhea ORPHA:178029
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds ORPHA:35710
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea ORPHA:29822
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Diarrhea, Colitis, Chronic diarrhea OMIM:614602
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Abdominal pain, Recurrent bacterial infections... ORPHA:486
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Diarrhea, Recurre... OMIM:307200
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Recurrent respiratory infections, Chronic diarrhea, Recurrent otitis media OMIM:618523
Neuroendocrine Tumor Of The Colon
Melena, Bowel urgency, Bloody diarrhea, Abdominal pain, Hypoactive bowel sounds, Lack of bowel so... ORPHA:100080
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent upper and lower respiratory tract infections, Colit... ORPHA:911
Eosinophilic Gastroenteritis
Abdominal pain, Steatorrhea, Diarrhea, Vomiting, Hematochezia, Dysphagia ORPHA:2070
Radiation Proctitis
Sepsis, Diarrhea, Hematochezia, Intestinal obstruction, Tenesmus ORPHA:70475
Intellectual Developmental Disorder, Autosomal Dominant 51
Feeding difficulties, Poor suck, Chronic diarrhea, Recurrent otitis media, Chronic constipation OMIM:617788
Visceral Myopathy 1
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Vomiting, Malnutrition, Dysphagia, ... OMIM:155310
Caspase 8 Deficiency
Recurrent herpes, Recurrent sinopulmonary infections, Chronic diarrhea OMIM:607271
Porphyria Due To Ala Dehydratase Deficiency
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Episodic vomiting, Nausea ORPHA:100924
Omenn Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Diarrhea, Recurrent viral infections OMIM:603554
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Sepsis, Diarrhea, Recurrent upper respiratory tract infections, Recurrent lower ... OMIM:616100
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Feeding difficulties, Diarrhea, Vomiting, Nausea, Reye syndrome-like episodes, Poor appetite ORPHA:927
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Pancreatoblastoma
Diarrhea, Abdominal distention, Vomiting, Abdominal pain ORPHA:677
Autosomal Agammaglobulinemia
Sepsis, Diarrhea, Meningitis, Recurrent infections, Recurrent respiratory infections ORPHA:33110
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis, Recurrent respiratory infections ORPHA:2575
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Nasogastric tube feeding, Vomiting ORPHA:289504
Porphyria, Acute Intermittent
Paralytic ileus, Constipation, Abdominal pain, Diarrhea, Vomiting, Nausea OMIM:176000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Diarrhea ORPHA:49827
Cutaneous Mastocytoma
Diarrhea, Vomiting, Abdominal pain, Nausea ORPHA:79455
Rapadilino Syndrome
Diarrhea OMIM:266280
Thrombotic Thrombocytopenic Purpura
Diarrhea, Abdominal pain ORPHA:54057
Mpi-Cdg
Decreased liver function, Gastrointestinal hemorrhage, Diarrhea, Vomiting ORPHA:79319
Alg1-Cdg
Decreased liver function, Sepsis, Recurrent infections, Chronic diarrhea ORPHA:79327
Specific Granule Deficiency 2
Intractable diarrhea, Recurrent bacterial infections, Sepsis, Recurrent pneumonia, Recurrent otit... OMIM:617475
Immunodeficiency, Common Variable, 14
Recurrent sinusitis, Chronic diarrhea OMIM:617765
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Feeding difficulties OMIM:177735
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Abdominal cramps, Early satiety, Constipation, Abdominal pain, Diarrhea, Vomiting, Gastroparesis,... OMIM:603041
Nk-Cell Enteropathy
Constipation, Gastroesophageal reflux, Abdominal pain, Diarrhea, Hematochezia ORPHA:263665
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Chronic diarrhea, Ulcerative colitis, Recurrent sinopulmonary infections OMIM:618394
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Nausea and vomiting, Chronic diarrhea, Abdominal pain ORPHA:65682
Galactosemia
Feeding difficulties, Hepatic failure, Sepsis, Diarrhea, Vomiting ORPHA:352
Immunodeficiency 25
Recurrent candida infections, Protracted diarrhea, Recurrent pneumonia, Recurrent herpes OMIM:610163
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Chronic diarrhea, Severe Epstein Barr virus infection OMIM:619858
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Pyoderma, Recurrent pneumonia, Chronic diarrhea, Recurrent... OMIM:242700
Selective Igm Deficiency
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,... ORPHA:331235
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Feeding difficulties, Recurrent upper respirat... ORPHA:263501
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Bloody diarrhea, Abdominal pain, Diarrhea, Intestinal obstruction, Protracted diar... ORPHA:67
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Abdominal pain, Diarrhea, Vomiting, Intestinal obstruction, Recurrent infections OMIM:226300
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Disseminated nontuberculous mycobacterial infection, Mycobacterium abscessus abscessus ... ORPHA:411703
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Diarrhea, Vomiting, Reye syndrome-like episodes OMIM:256810
Necrotizing Enterocolitis
Bloody diarrhea, Abdominal distention, Peritonitis, Diarrhea, Vomiting, Neonatal sepsis ORPHA:391673
Neuroendocrine Tumor Of Stomach
Melena, Bowel urgency, Bloody diarrhea, Episodic abdominal pain, Hematemesis, Hepatic failure, La... ORPHA:100075
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Episodic vomiting, Feeding difficulties in infancy, Meningitis, Secretory diarrhea OMIM:616050
American Trypanosomiasis
Abdominal pain, Diarrhea, Infectious encephalitis, Achalasia, Abnormal large intestine physiology ORPHA:3386
Classic Galactosemia
Feeding difficulties, Hepatic failure, Sepsis, Diarrhea, Vomiting ORPHA:79239
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Recurrent staphylococcal infections, Chronic mucocutaneous candid... OMIM:116920
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Diarrhea, Recurrent respiratory infections ORPHA:1842
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Diarrhea, Hepatic failure OMIM:235555
Immunodeficiency 85 And Autoimmunity
Tube feeding, Vomiting, Chronic diarrhea, Recurrent respiratory infections, Persistent EBV viremia OMIM:619510
Cold Agglutinin Disease
Nausea and vomiting, Diarrhea ORPHA:56425
Congenital Toxoplasmosis
Diarrhea ORPHA:858
Lassa Fever
Abdominal pain, Sepsis, Diarrhea, Dysphagia, Nausea and vomiting ORPHA:99824
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Abdominal pain, Anorexia, Diarrhea, Xerostomia, Vomiting, Hematochezia OMIM:175500
Hyperimmunoglobulinemia D With Periodic Fever
Abdominal pain, Peritonitis, Diarrhea, Intestinal obstruction, Recurrent aphthous stomatitis, Gas... ORPHA:343
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, Recurrent infections, Chronic diarrhea OMIM:619824
Methanol Poisoning
Diarrhea, Vomiting, Abdominal pain ORPHA:31825
Hyperprolinemia Type 2
Dysphagia, Diarrhea, Abdominal pain, Feeding difficulties ORPHA:79101
Immunodeficiency 36
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent lower res... OMIM:616005
Galactosemia I
Decreased liver function, Diarrhea, Vomiting OMIM:230400
Aa Amyloidosis
Abdominal pain, Vomiting, Nausea, Malnutrition, Chronic diarrhea ORPHA:85445
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Brain abscess, Abdominal pain ORPHA:54251
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Severe viral infection, Recurrent lower respiratory tract infections, Inte... OMIM:619644
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent candida infections, Recurrent upper respiratory tract infections, Recurrent lower respi... ORPHA:169154
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding OMIM:607906
Proprotein Convertase 1/3 Deficiency
Diarrhea OMIM:600955
Kaposi Sarcoma
Recurrent herpes, Diarrhea ORPHA:33276
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Diarrhea, Abdominal pain ORPHA:99828
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea OMIM:300215
Diffuse Cutaneous Mastocytosis
Abdominal pain, Diarrhea, Vomiting, Malnutrition, Gastrointestinal hemorrhage ORPHA:79456
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Diarrhea, Chronic hepatic failure, Chronic mucocutaneous candidiasis, ... ORPHA:79124
Chylomicron Retention Disease
Diarrhea, Abdominal distention, Vomiting, Steatorrhea ORPHA:71
Periodic Fever, Familial, Autosomal Dominant
Abdominal pain, Vomiting, Chronic diarrhea, Gastrointestinal hemorrhage, Chronic constipation OMIM:142680
Immunodeficiency 27A
Anorexia, Diarrhea OMIM:209950
Immunodeficiency 58
Onychomycosis, Colitis, Recurrent upper respiratory tract infections, Helicobacter pylori infecti... OMIM:618131
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent upper respiratory tract infections, Intestinal obstruction, Recurrent lower respiratory... OMIM:600802
Hereditary Fructose Intolerance
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Chronic hepatic failure, ... ORPHA:469
Middle Ear Neuroendocrine Tumor
Chronic diarrhea ORPHA:100084
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Diarrhea, Abdominal distention, Vomiting OMIM:608104
Familial Glucocorticoid Deficiency
Constipation, Episodic abdominal pain, Anorexia, Diarrhea, Recurrent urinary tract infections, Vo... ORPHA:361
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Diarrhea, Hepatic failure OMIM:613812
Legionnaires Disease
Abdominal pain, Anorexia, Sepsis, Diarrhea, Recurrent pharyngitis, Infectious encephalitis, Nause... ORPHA:549
Yao Syndrome
Diarrhea, Xerostomia, Abdominal pain OMIM:617321
Cronkhite-Canada Syndrome
Anorexia, Diarrhea, Abdominal pain ORPHA:2930
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Diarrhea, Vomiting, Hepatic failure OMIM:602579
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Constipation, Gastroesophageal reflux, Recurrent infections due to aspiration, Diarrhea, Vomiting... OMIM:223900
Immunodeficiency 97 With Autoinflammation
Colitis, Enterocolitis, Abdominal pain, Recurrent urinary tract infections, Diarrhea, Recurrent o... OMIM:619802
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Diarrhea OMIM:252920
Snakebite Envenomation
Neuromuscular dysphagia, Diarrhea, Pseudobulbar paralysis, Vomiting ORPHA:449285
Congenital Disorder Of Glycosylation, Type Id
Diarrhea, Vomiting OMIM:601110
Blue Diaper Syndrome
Diarrhea ORPHA:94086
Carnitine Palmitoyltransferase I Deficiency
Feeding difficulties in infancy, Diarrhea OMIM:255120
Microvillus Inclusion Disease
Diarrhea, Abdominal distention ORPHA:2290
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Diarrhea OMIM:252900
Hypocomplementemic Urticarial Vasculitis
Abdominal pain, Recurrent bacterial infections, Diarrhea, Meningitis, Nausea and vomiting ORPHA:36412
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Enterocolitis, Severe infection, Diarrhea, Vomiti... ORPHA:90051
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Diarrhea, Vomiting ORPHA:42
Aggressive Systemic Mastocytosis
Abdominal cramps, Decreased liver function, Abdominal pain, Anorexia, Diarrhea, Gastrointestinal ... ORPHA:98850
Ethylmalonic Encephalopathy
Diarrhea ORPHA:51188
Hyper-Igd Syndrome
Chronic oral candidiasis, Abdominal pain, Diarrhea, Vomiting, Recurrent infections, Chronic diarr... OMIM:260920
Graft Versus Host Disease
Recurrent gastroenteritis, Abdominal pain, Diarrhea, Vomiting, Stomatitis, Nausea, Recurrent infe... ORPHA:39812
Bacterial Toxic-Shock Syndrome
Abdominal pain, Severe infection, Peritonitis, Diarrhea, Sepsis, Vomiting, Recurrent urinary trac... ORPHA:36234
Boutonneuse Fever
Diarrhea, Abdominal pain, Nausea ORPHA:83313
Shigellosis
Abdominal cramps, Bloody mucoid diarrhea, Bloody diarrhea, Paralytic ileus, Acute colitis, Abdomi... ORPHA:810
Good Syndrome
Dysphagia, Diarrhea, Recurrent urinary tract infections, Recurrent respiratory infections ORPHA:169105
Neuroendocrine Neoplasm Of Appendix
Bowel urgency, Constipation, Episodic abdominal pain, Hypoactive bowel sounds, Anorexia, Abnormal... ORPHA:100079
Adiposis Dolorosa
Xerostomia, Diarrhea, Constipation ORPHA:36397
Medullary Thyroid Carcinoma
Dysphagia, Diarrhea ORPHA:1332
Mucopolysaccharidosis, Type Iiic
Dysphagia, Recurrent upper respiratory tract infections, Diarrhea OMIM:252930
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Vomiting OMIM:560000
Ppoma
Constipation, Episodic abdominal pain, Hypoactive bowel sounds, Lack of bowel sounds, Anorexia, D... ORPHA:97278
Immunodeficiency 92
Recurrent oral herpes, Chronic diarrhea, Esophagitis, BCGosis, Persistent CMV viremia OMIM:619652
Familial Mediterranean Fever
Crohn's disease, Episodic abdominal pain, Abdominal pain, Peritonitis, Diarrhea, Vomiting, Mening... OMIM:249100
Amyloidosis, Hereditary, Transthyretin-Related
Diarrhea, Constipation OMIM:105210
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Colitis, Abdominal pain, Diarrhea, Inflammation of the large intestine, Esopha... OMIM:301074
Immunodeficiency 17
Recurrent gastroenteritis, Chronic oral candidiasis, Chronic diarrhea, Recurrent otitis media, Re... OMIM:615607
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea ORPHA:2221
Avian Influenza
Abdominal pain, Sepsis, Diarrhea, Vomiting, Meningitis, Infectious encephalitis ORPHA:454836
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Decreased liver function, Gastroesophageal reflux, Abdominal pain, Diarrhea, Vomiting,... ORPHA:85450
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea OMIM:619849
Satoyoshi Syndrome
Diarrhea OMIM:600705
Encephalopathy, Ethylmalonic
Chronic diarrhea, Feeding difficulties OMIM:602473
Fabry Disease
Abdominal pain, Diarrhea, Vomiting, Nausea, Tenesmus OMIM:301500
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Car T Cell Therapy-Associated Cytokine Release Syndrome
Diarrhea, Poor appetite, Vomiting, Nausea ORPHA:542323
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Nausea, Vomiting, Chronic diarrhea OMIM:118301
Wild Type Attr Amyloidosis
Intermittent diarrhea, Gastrointestinal dysmotility, Bowel incontinence, Chronic diarrhea ORPHA:330001
Young-Onset Parkinson Disease
Diarrhea, Constipation, Gastroparesis, Nausea ORPHA:2828
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea OMIM:602347
Trichothiodystrophy 5, Nonphotosensitive
Recurrent infections, Chronic diarrhea OMIM:300953
X-Linked Agammaglobulinemia
Sepsis, Meningitis, Recurrent pneumonia, Chronic diarrhea, Recurrent cutaneous abscess formation ORPHA:47
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Abdominal pain, Anorexia, Intermittent diarrhea, Intestinal ps... ORPHA:1333
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Diarrhea, Poor appetite OMIM:201100
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Chronic diarrhea, Abdominal pain OMIM:617099
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Diarrhea, Hepatic failure OMIM:607765
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Pyoderma, Sepsis, Recurrent urinary tract infections, Recur... OMIM:300755
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Abdominal pain OMIM:106100
Lysosomal Acid Lipase Deficiency
Steatorrhea, Acute hepatic failure, Hepatic failure, Diarrhea, Vomiting, Protuberant abdomen OMIM:278000
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial infections, Severe var... OMIM:606367
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent upper and lower respiratory tract infections, Recurrent fungal infections, Recurrent ba... ORPHA:331206
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent fungal infections, Recurrent bacterial infections, Diarrhea, Chronic mucocutaneous cand... OMIM:102700
Congenital Tufting Enteropathy
Abdominal distention, Steatorrhea, Vomiting, Chronic diarrhea, Secretory diarrhea ORPHA:92050
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea OMIM:618805
Immunodeficiency, Common Variable, 8, With Autoimmunity
Colitis, Sepsis, Inflammation of the large intestine, Recurrent sinusitis, Recurrent infections, ... OMIM:614700
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diarrhea, Vomiting ORPHA:3240
Wiskott-Aldrich Syndrome
Melena, Recurrent otitis media, Hematemesis, Sepsis, Diarrhea, Recurrent upper respiratory tract ... OMIM:301000
Carcinoid Syndrome
Lack of bowel sounds, Nausea and vomiting, Protracted diarrhea, Episodic abdominal pain ORPHA:100093
Alg8-Cdg
Diarrhea, Vomiting, Feeding difficulties ORPHA:79325
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Gastroesophageal reflux, Chronic oral candidiasis, Recurrent bacteri... ORPHA:221139
Relapsing Fever
Diarrhea, Vomiting, Abdominal pain ORPHA:91547
Somatostatinoma
Constipation, Episodic abdominal pain, Steatorrhea, Lack of bowel sounds, Anorexia, Diarrhea, Int... ORPHA:97283
Hereditary Angioedema Type 1
Abdominal pain, Diarrhea, Vomiting, Nausea, Dysphagia ORPHA:100050
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea OMIM:619484
Infection-Related Hemolytic Uremic Syndrome
Abdominal cramps, Acute colitis, Bloody diarrhea, Abdominal pain, Severe infection, Diarrhea, Bra... ORPHA:544482
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea OMIM:601847
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Severe cytomegalovirus infection, Diarrhea OMIM:619313
Microscopic Polyangiitis
Abdominal pain, Peritonitis, Diarrhea, Gastrointestinal infarctions, Gastrointestinal hemorrhage,... ORPHA:727
Glucagonoma
Constipation, Episodic abdominal pain, Steatorrhea, Lack of bowel sounds, Abnormal gastrointestin... ORPHA:97280
Whipple Disease
Abdominal pain, Anorexia, Diarrhea, Infectious encephalitis, Gastrointestinal hemorrhage ORPHA:3452
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea OMIM:211600
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, Chronic oral candidiasis, Recurrent opportunis... ORPHA:35078
Grfoma
Constipation, Episodic abdominal pain, Hypoactive bowel sounds, Lack of bowel sounds, Anorexia, D... ORPHA:97261
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, Sepsis, Recurrent upper respiratory tract infections, Recurrent lowe... OMIM:233600
Immunodeficiency 55
Diarrhea, Recurrent infections OMIM:617827
Dpm1-Cdg
Gastrostomy tube feeding in infancy, Diarrhea ORPHA:79322
Late-Onset Isolated Acth Deficiency
Constipation, Abdominal pain, Anorexia, Sepsis, Diarrhea, Nausea and vomiting ORPHA:199299
Diarrhea 1, Secretory Chloride, Congenital
Diarrhea, Abdominal distention OMIM:214700
Hyperinsulinism Due To Hnf4A Deficiency
Diarrhea, Vomiting ORPHA:263455
Primary Hepatic Neuroendocrine Carcinoma
Abdominal distention, Episodic abdominal pain, Anorexia, Diarrhea, Nausea ORPHA:100085
Familial Mediterranean Fever
Constipation, Abdominal pain, Acute hepatic failure, Peritonitis, Diarrhea, Intestinal obstructio... ORPHA:342
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Abdominal pain, Steatorrhea, Di... ORPHA:309031
19P13.13 Microdeletion Syndrome
Abdominal pain, Feeding difficulties, Diarrhea, Vomiting, Functional abnormality of the gastroint... ORPHA:357001
Transcobalamin Ii Deficiency
Diarrhea, Vomiting OMIM:275350
B4Galt1-Cdg
Diarrhea ORPHA:79332
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea OMIM:614328
Carney Triad
Abdominal pain, Anorexia, Diarrhea, Gastrointestinal hemorrhage, Nausea and vomiting ORPHA:139411
Familial Hypoaldosteronism
Nausea and vomiting, Diarrhea, Feeding difficulties ORPHA:427
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Diarrhea, Chronic oral candidiasis, Chronic mucocutaneous candidiasis OMIM:240300
Zygomycosis
Unusual skin infection, Melena, Colitis, Gastritis, Unusual gastrointestinal infection, Abdominal... ORPHA:73263
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent infections, Diarrhea, Vomiting, Nausea ORPHA:79240
Celiac Disease, Susceptibility To, 1
Abdominal distention, Abdominal pain, Steatorrhea, Diarrhea, Vomiting, Stomatitis, Recurrent apht... OMIM:212750
Mastocytosis
Anorexia, Gastrointestinal hemorrhage, Nausea and vomiting, Diarrhea ORPHA:98292
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Diarrhea, Recurrent pneumonia, Recurrent otitis media OMIM:309900
Acute Intermittent Porphyria
Ileus, Constipation, Abdominal distention, Abdominal pain, Pseudobulbar paralysis, Diarrhea, Naus... ORPHA:79276
Stevens-Johnson Syndrome
Abdominal pain, Acute hepatic failure, Sepsis, Diarrhea, Dysphagia, Gastrointestinal hemorrhage, ... ORPHA:36426
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Diarrhea, Recurrent infections, Steatorrhea OMIM:617941
Congenital Disorder Of Glycosylation, Type Iil
Recurrent infections, Chronic diarrhea, Inflammation of the large intestine OMIM:614576
Pediatric Systemic Lupus Erythematosus
Diarrhea, Abdominal distention, Vomiting, Abdominal pain ORPHA:93552
Juvenile Polyposis Syndrome
Diarrhea, Abdominal pain, Hematochezia OMIM:174900
Systemic Capillary Leak Syndrome
Diarrhea, Abdominal pain ORPHA:188
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Constipation, Abdominal pain, Peritonitis, Diarrhea, Vomiting, Intestinal obstruction, Recurrent ... ORPHA:32960
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux OMIM:608643
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea OMIM:242860
Cholera
Abdominal cramps, Abdominal pain, Diarrhea, Vomiting, Achlorhydria ORPHA:173
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Secretory diarrhea OMIM:614441
Fructose-1,6-Bisphosphatase Deficiency
Diarrhea, Vomiting, Reye syndrome-like episodes ORPHA:348
Lujo Hemorrhagic Fever
Abdominal cramps, Odynophagia, Diarrhea, Fulminant hepatitis, Vomiting, Severe viral infection, N... ORPHA:319213
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Recurrent infections, Diarrhea, Vomiting, Nausea ORPHA:264580
Mucopolysaccharidosis, Type Iiid
Tube feeding, Recurrent upper respiratory tract infections, Diarrhea, Recurrent otitis media, Dys... OMIM:252940
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Feeding difficulties in infancy, Chronic diarrhea, Gastrostomy tube feed... OMIM:613385
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Feeding difficulties in infancy, Diarrhea, Vomiting, Acute hepatic failure ORPHA:71212
Mucoepithelial Dysplasia, Hereditary
Melena, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Chronic diarrhea OMIM:158310
Serotonin Syndrome
Nausea, Diarrhea, Hepatic failure ORPHA:43116
Biotinidase Deficiency
Feeding difficulties in infancy, Diarrhea, Vomiting OMIM:253260
Mevalonic Aciduria
Recurrent infections, Diarrhea, Vomiting OMIM:610377
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Secretory diarrhea, Abdominal distention OMIM:270420
Mirage Syndrome
Gastroesophageal reflux, Sepsis, Recurrent urinary tract infections, Recurrent bacterial infectio... OMIM:617053
Alternating Hemiplegia Of Childhood
Constipation, Abdominal distention, Anorexia, Diarrhea, Vomiting, Dysphagia, Gastrointestinal dys... ORPHA:2131
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Bloody diarrhea, Enterocolitis, Hematochezia, Intestinal obstruction, Recurrent respiratory infec... OMIM:243150
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Severe infection, Chronic diarrhea OMIM:304790
Waldenström Macroglobulinemia
Anorexia, Gastrointestinal hemorrhage, Diarrhea, Recurrent infections ORPHA:33226
Intellectual Developmental Disorder, Autosomal Dominant 57
Intermittent diarrhea, Diarrhea, Constipation, Feeding difficulties OMIM:618050
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:301220
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea ORPHA:324636
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Vomiting OMIM:610768
Pediatric-Onset Graves Disease
Nausea and vomiting, Diarrhea ORPHA:525731
Intellectual Developmental Disorder, Autosomal Dominant 35
Chronic diarrhea OMIM:616355
Lysosomal Acid Lipase Deficiency
Decreased liver function, Abdominal distention, Feeding difficulties, Steatorrhea, Hepatic failur... ORPHA:275761
Neuroblastoma, Susceptibility To, 1
Diarrhea, Abdominal pain OMIM:256700
Omenn Syndrome
Sepsis, Chronic diarrhea ORPHA:39041
Acute Adrenal Insufficiency
Constipation, Abdominal pain, Anorexia, Diarrhea, Recurrent acute respiratory tract infection, Na... ORPHA:95409
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Diarrhea, Vomiting, Episodic vomiting OMIM:618321
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
BCGitis, Sepsis, Recurrent upper respiratory tract infections, Chronic diarrhea OMIM:602450
Reactive Arthritis
Abdominal pain, Diarrhea, Recurrent urinary tract infections, Inflammation of the large intestine... ORPHA:29207
Bronchial Neuroendocrine Tumor
Bowel urgency, Hepatic failure, Anorexia, Protracted diarrhea, Poor appetite ORPHA:97287
Ileal Neuroendocrine Tumor
Episodic abdominal pain, Hepatic failure, Episodic vomiting, Abnormal bowel sounds, Gastrointesti... ORPHA:100078
Jejunal Neuroendocrine Tumor
Episodic abdominal pain, Hepatic failure, Episodic vomiting, Abnormal bowel sounds, Gastrointesti... ORPHA:100077
Nijmegen Breakage Syndrome
Recurrent infection of the gastrointestinal tract, Diarrhea, Recurrent urinary tract infections, ... OMIM:251260
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Bloody diarrhea, Abdominal pain, Peritonitis, Diarrhea, Vomiting ORPHA:90038
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Chronic diarrhea, Feeding difficulties, Steatorrhea ORPHA:2176
Listeriosis
Unusual skin infection, Unusual CNS infection, Abdominal pain, Peritonitis, Diarrhea, Sepsis, Vom... ORPHA:533
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Ileus, Colitis, Gastritis, Dependency on intravenous nutrition, Sepsis... ORPHA:37042
Primary Intestinal Lymphangiectasia
Abdominal pain, Opportunistic infection, Chronic diarrhea, Cryptococcal meningitis, Functional ab... ORPHA:90362
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Gastritis, Recurrent bronchopulmonary infections, Meconium ile... OMIM:219721
Beta-Ketothiolase Deficiency
Anorexia, Diarrhea, Vomiting ORPHA:134
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Feeding difficulties in infancy, Diarrhea, Vomiting OMIM:608836
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Abdominal pain, Recurrent bacterial infections, Inflammation of the large intestine, Hematochezia... OMIM:615895
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Intractable diarrhea, Colitis, Bowel irritability, Gastritis, Abdominal pain, An... OMIM:619381
Japanese Encephalitis
Abdominal pain, Anorexia, Diarrhea, Vomiting, Meningitis, Infectious encephalitis ORPHA:79139
Rat-Bite Fever
Sepsis, Diarrhea, Vomiting, Meningitis, Parotitis ORPHA:31205
16P13.2 Microdeletion Syndrome
Gastroesophageal reflux, Poor suck, Feeding difficulties in infancy, Chronic diarrhea, Chronic co... ORPHA:500055
Refractory Celiac Disease
Chronic diarrhea, Malnutrition, Abdominal pain ORPHA:398063
Congenital Disorder Of Glycosylation, Type Ia
Feeding difficulties in infancy, Diarrhea, Vomiting, Steatorrhea OMIM:212065
Zollinger-Ellison Syndrome
Episodic abdominal pain, Diarrhea, Hematochezia, Intestinal obstruction, Nausea, Esophagitis, Gas... ORPHA:913
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Enterocolitis, Recurrent upper respiratory tract infections, Diarrhea, Chronic mucocutaneous cand... ORPHA:391487
Duodenal Neuroendocrine Tumor
Melena, Episodic abdominal pain, Hematemesis, Hepatic failure, Episodic vomiting, Gastrointestina... ORPHA:100076
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Gastroesophageal reflux, Feeding difficulties, Steatorrhea, Recurrent i... OMIM:618268
Riddle Syndrome
Abdominal pain, Diarrhea, Recurrent sinusitis, Recurrent pneumonia, Recurrent viral infections ORPHA:420741
Cystic Fibrosis
Ileus, Exocrine pancreatic insufficiency, Recurrent bronchopulmonary infections, Steatorrhea, Mec... OMIM:219700
Citrullinemia Type Ii
Diarrhea, Vomiting ORPHA:247585
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Steatorrhea ORPHA:3217
Turcot Syndrome With Polyposis
Melena, Constipation, Abdominal pain, Diarrhea, Vomiting, Hematochezia, Nausea ORPHA:99818
Wiskott-Aldrich Syndrome, Autosomal Dominant
Recurrent upper respiratory tract infections, Diarrhea, Inflammation of the large intestine, Recu... OMIM:600903
Juvenile Polyposis Of Infancy
Melena, Intestinal bleeding, Abdominal pain, Diarrhea, Hematochezia, Gastrointestinal hemorrhage ORPHA:79076
Familial Gestational Hyperthyroidism
Diarrhea ORPHA:99819
Dominant Beta-Thalassemia
Diarrhea, Feeding difficulties, Chronic infection ORPHA:231226
Aicardi-Goutieres Syndrome 7
Bloody diarrhea, Hematemesis, Feeding difficulties, Diarrhea, Hematochezia, Recurrent lower respi... OMIM:615846
Colchicine Poisoning
Diarrhea, Vomiting, Nausea ORPHA:31824
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Diarrhea, Episodic vomiting, Reye syndrome-like episodes ORPHA:20
Microsporidiosis
Abdominal pain, Anorexia, Peritonitis, Sepsis, Brain abscess, Vomiting, Bronchiolitis, Intermitte... ORPHA:2552
Mitchell-Riley Syndrome
Diarrhea OMIM:615710
Melas
Constipation, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Gastrointestinal dysmotility ORPHA:550
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea ORPHA:424
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Diarrhea, Vomiting ORPHA:370
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Abdominal pain, Nausea ORPHA:98849
Osteootohepatoenteric Syndrome
Episodic vomiting, Secretory diarrhea, Increased intestinal transit time, Abdominal pain OMIM:619377
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Malnutrition ORPHA:96180
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea OMIM:226730
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Vomiting ORPHA:230
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Candida esophagitis, Eosinophilic infiltration of the esophagus, Pancolitis, Sev... OMIM:618213
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea OMIM:167100
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Recurrent infections, Chronic diarrhea OMIM:601675
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Steatorrhea, Anorexia, Hepatic failure, Vomiting, Recurrent in... OMIM:557000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Recurrent respiratory infections, Recurrent infections, Feeding difficulties OMIM:618278
Beta-Thalassemia Major
Diarrhea, Feeding difficulties, Chronic infection ORPHA:231214
Leukocyte Adhesion Deficiency Type Ii
Recurrent gastroenteritis, Recurrent urinary tract infections, Chronic lymphocytic meningitis, Re... ORPHA:99843
Hemorrhagic Fever-Renal Syndrome
Melena, Hematemesis, Abdominal pain, Severe infection, Diarrhea, Vomiting, Nausea ORPHA:340
Farber Disease
Recurrent upper respiratory tract infections, Chronic diarrhea, Feeding difficulties, Hepatic fai... ORPHA:333
Plague
Bloody diarrhea, Enterocolitis, Abdominal pain, Hematemesis, Anorexia, Sepsis, Diarrhea, Vomiting... ORPHA:707
Neonatal Inflammatory Skin And Bowel Disease
Recurrent gastroenteritis, Recurrent bacterial skin infections, Bloody diarrhea ORPHA:294023
Multiple Endocrine Neoplasia, Type Iib
Diarrhea, Constipation OMIM:162300
Congenital Disorder Of Glycosylation, Type It
Vomiting, Chronic diarrhea, Recurrent otitis media OMIM:614921
Immunodeficiency 87 And Autoimmunity
Recurrent fungal infections, Feeding difficulties, Hepatic failure, Necrotizing enterocolitis, Se... OMIM:619573
Distal Renal Tubular Acidosis
Poor appetite, Diarrhea, Constipation, Vomiting ORPHA:18
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea OMIM:235400
Cerebrotendinous Xanthomatosis
Diarrhea, Pseudobulbar paralysis OMIM:213700
Cockayne Syndrome Type 1
Diarrhea ORPHA:90321
Lysinuric Protein Intolerance
Diarrhea, Malnutrition, Vomiting, Nausea OMIM:222700
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Vomiting, Intestinal obstruction, Recurrent infections, Chronic diarrhea, Ab... ORPHA:90363
Acrodermatitis Enteropathica
Anorexia, Poor appetite, Chronic diarrhea ORPHA:37
Syndromic Diarrhea
Bloody diarrhea, Colitis, Gastritis, Dependency on intravenous nutrition, Intractable diarrhea, R... ORPHA:84064
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enterocolitis, Recurrent bacterial infections, Diarrhea, Inflammation of the large intestine, Ulc... ORPHA:79259
Addison Disease
Constipation, Abdominal pain, Anorexia, Diarrhea, Nausea and vomiting ORPHA:85138
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Bloody diarrhea, Hematemesis, Hematochezia, Gastrointestinal hemorrhage ORPHA:464321
Marburg Hemorrhagic Fever
Bloody diarrhea, Odynophagia, Abdominal pain, Anorexia, Severe infection, Diarrhea, Vomiting, Nausea ORPHA:99826
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Chronic diarrhea ORPHA:457279
Multiple Endocrine Neoplasia, Type I
Diarrhea, Esophagitis OMIM:131100
Dubowitz Syndrome
Gastroesophageal reflux, Episodic vomiting, Feeding difficulties in infancy, Recurrent infections... OMIM:223370
Hurler Syndrome
Recurrent respiratory infections, Chronic diarrhea, Feeding difficulties ORPHA:93473
Rothmund-Thomson Syndrome Type 1
Nasogastric tube feeding, Functional abnormality of the gastrointestinal tract, Diarrhea, Vomiting ORPHA:221008
Immunodeficiency 47
Recurrent bacterial infections, Exocrine pancreatic insufficiency, Recurrent infections, Chronic ... OMIM:300972
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Diarrhea OMIM:609313
Malakoplakia
Diarrhea, Abdominal pain ORPHA:556
Sandhoff Disease
Episodic abdominal pain, Chronic diarrhea OMIM:268800
Alg9-Cdg
Diarrhea, Gastroesophageal reflux, Vomiting ORPHA:79328
Ogden Syndrome
Tube feeding, Feeding difficulties, Diarrhea, Vomiting, Recurrent infections, Recurrent otitis me... OMIM:300855
Kawasaki Disease
Abdominal pain, Diarrhea, Meningitis, Recurrent pharyngitis, Nausea and vomiting ORPHA:2331
Rothmund-Thomson Syndrome
Diarrhea, Nasogastric tube feeding in infancy, Vomiting ORPHA:2909
Hepatocellular Carcinoma
Abdominal distention, Abdominal pain, Anorexia, Diarrhea, Poor appetite ORPHA:88673
Rothmund-Thomson Syndrome Type 2
Nasogastric tube feeding, Functional abnormality of the gastrointestinal tract, Diarrhea, Vomiting ORPHA:221016
Chronic Graft Versus Host Disease
Gastroesophageal reflux, Abdominal pain, Anorexia, Diarrhea, Xerostomia, Nausea, Recurrent infect... ORPHA:99921
Mucopolysaccharidosis Type 3
Constipation, Recurrent tonsillitis, Intermittent diarrhea, Dysphagia, Recurrent sinopulmonary in... ORPHA:581
Vipoma
Episodic abdominal pain, Abnormal gastrointestinal motility, Anorexia, Nausea and vomiting, Poor ... ORPHA:97282
Multiple Endocrine Neoplasia Type 1
Melena, Constipation, Gastroesophageal reflux, Abdominal pain, Hematemesis, Anorexia, Diarrhea, V... ORPHA:652
Peutz-Jeghers Syndrome
Bloody diarrhea, Intestinal bleeding, Abdominal pain OMIM:175200
Wiskott-Aldrich Syndrome
Hematemesis, Sepsis, Inflammation of the large intestine, Hematochezia, Meningitis, Chronic diarr... ORPHA:906
Liver Disease, Severe Congenital
Chronic gastritis, Exocrine pancreatic insufficiency, Abdominal distention, Feeding difficulties,... OMIM:619991
Yellow Fever
Hematemesis, Abdominal pain, Opportunistic infection, Diarrhea, Vomiting, Nausea ORPHA:99829
Lysinuric Protein Intolerance
Feeding difficulties, Steatorrhea, Hepatic failure, Recurrent bacterial infections, Diarrhea, Vom... ORPHA:470
Cocaine Intoxication
Bloody diarrhea, Colitis, Abdominal pain, Vomiting, Nausea, Gastrointestinal infarctions ORPHA:90068
Combined Immunodeficiency-Enteropathy Spectrum