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Gene: Mir139 MGI:2676824

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
microRNA 139
Synonyms:
Mirn139,  mmu-mir-139

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mir139 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 Mir139 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Ulcerative colitis, Bloody diarrhea OMIM:619398
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Ficolin 3 Deficiency
Necrotizing enterocolitis, Verrucae OMIM:613860
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Immunodeficiency, Common Variable, 11
Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Inflammation of the large in... OMIM:615767
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Trehalase Deficiency
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Obesity ORPHA:88643
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ulcerative colit... OMIM:617638
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Abdominal colic, Diarrhea, Protein-losing enteropathy, Vomiting, Hypoalbuminemia... OMIM:615863
Diarrhea 9
Diarrhea, Failure to thrive, Villous atrophy OMIM:618168
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Vomiting, Abnormal intestine morphology, Failure to th... OMIM:606528
Immunodeficiency 76
Chronic diarrhea, Colitis, B-cell lymphoma, Recurrent pneumonia OMIM:619164
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis OMIM:617006
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Immunodeficiency 104
Pneumonia, Eczema, Diarrhea, Chronic mucocutaneous candidiasis, Gastroesophageal reflux, Otitis m... OMIM:608971
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... ORPHA:209964
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Congenital Sucrase-Isomaltase Deficiency
Abdominal colic, Abdominal distention, Diarrhea, Vomiting ORPHA:35122
Immunodeficiency 37
Colitis, Infectious encephalitis, Decreased circulating antibody level OMIM:616098
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... OMIM:618108
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Decreased circulating total IgM, Inflammation of the large... OMIM:619281
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Increased circulating ferritin concentration, ... OMIM:300635
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... ORPHA:103907
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... ORPHA:2494
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, D... OMIM:618394
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Elevated circulating C-reactive protein concentration, Feeding diffic... OMIM:616050
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm ORPHA:46488
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ... OMIM:614602
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Anoperi... OMIM:613960
Immunodeficiency 48
Pneumonia, Diarrhea, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia OMIM:269840
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Hypo... OMIM:246700
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abdominal distention, Diarrhea, Weight loss, Hematoch... ORPHA:103910
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level OMIM:614102
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elevated circulating C-reactive protein concentration, Sterile arthritis, Arthritis, Coliti... OMIM:604416
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Elevated circulating C-reactive pro... ORPHA:2070
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Brunner Syndrome
Diarrhea OMIM:300615
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... OMIM:619445
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
Diarrhea 13
Hypoalbuminemia, Failure to thrive, Secretory diarrhea, Vomiting OMIM:620357
Coproporphyria, Hereditary
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... OMIM:121300
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Eczema, Abnormal immunoglobulin level, Feeding difficulties in infancy, Chroni... ORPHA:98813
Enterokinase Deficiency
Diarrhea, Failure to thrive, Hypoproteinemia OMIM:226200
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abdominal pain, Abnormal gastr... ORPHA:263665
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphoma, Lymphocytic i... ORPHA:436159
Reticular Dysgenesis
Skin rash, Malabsorption, Diarrhea, Decreased circulating antibody level, Weight loss, Chronic ot... ORPHA:33355
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, Conjunctivitis, Otitis media, Failure to thriv... OMIM:601457
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... OMIM:301074
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Recurrent sinusitis, Decreased circulating... OMIM:613101
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Anterior uveitis, Colitis, Ileal ulcer OMIM:616744
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... OMIM:174900
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Obesity, Feeding difficulties OMIM:620270
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Agammaglobulinemia, Absent isohemagglutinin level, Recurrent otitis media, Failure to t... OMIM:613501
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... OMIM:614700
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... OMIM:618131
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Diarrhea, Gastrointestinal dysmotility, Protracted diarrh... ORPHA:67
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec... OMIM:614878
Immunodeficiency, Common Variable, 2
Diarrhea, Recurrent pneumonia, Lymphoma, Bronchiectasis, Neoplasm, Conjunctivitis, Recurrent sinu... OMIM:240500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... OMIM:616809
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... OMIM:616433
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption OMIM:229050
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... OMIM:301220
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... ORPHA:33110
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co... OMIM:616100
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctiviti... OMIM:612692
Cronkhite-Canada Syndrome
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Furrowed tongu... ORPHA:2930
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant... ORPHA:48104
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphoproliferative disorder, Lymphade... ORPHA:911
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis ORPHA:231
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Immunodeficiency 15B
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Chronic oral candidia... OMIM:615592
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis, Decreased circulating antibody level OMIM:615190
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Immunodeficiency 69
Increased circulating ferritin concentration, Diarrhea, Failure to thrive, Skin rash OMIM:618963
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Skin rash, Pneumonia, Chronic diarrhea, Recurrent pneumonia, Agammaglobulinemi... OMIM:300400
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to thrive OMIM:612075
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Malabsorption, Diarrhea, ... ORPHA:229717
Esophagitis, Eosinophilic, 1
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:613412
Immunodeficiency 97 With Autoinflammation
Recurrent skin infections, Eczema, Abdominal pain, Increased circulating ferritin concentration, ... OMIM:619802
Enteric Anendocrinosis
Diarrhea, Vomiting, Malabsorption ORPHA:83620
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... OMIM:619971
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Hypoalbuminemia, Dec... ORPHA:79319
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Hypoalbuminemia, P... ORPHA:37042
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythroderma, Protracted diarrhea,... ORPHA:169160
Cog7-Cdg
Small for gestational age, Elevated circulating creatine kinase concentration, Diarrhea, Feeding ... ORPHA:79333
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hematochezia, Hamartomat... OMIM:175500
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin level, Chronic... OMIM:614699
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... ORPHA:324964
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive, Gingival fibromatosis OMIM:228600
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Gastroparesis, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intes... OMIM:603041
Shigellosis
Failure to thrive in infancy, Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocar... ORPHA:810
Thymoma
Myositis, Glomerulonephritis, Neoplasm of head and neck, Ulcerative colitis, Decreased circulatin... ORPHA:99867
Immunodeficiency 46
Chronic diarrhea, Decreased circulating antibody level, Conjunctivitis, Chronic oral candidiasis,... OMIM:616740
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Elevated circulating C-reactive protein concentration, Anorexia, Colitis, Vomiti... OMIM:619381
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Vomiting, Fail... OMIM:616069
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthritis, Decrease... OMIM:619510
Sandhoff Disease, Juvenile Form
Diarrhea, Failure to thrive, Constipation, Dysphagia ORPHA:309162
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Weight loss, Macroglossia, Neoplasm, Neoplasm ... ORPHA:2221
Cholesteryl Ester Storage Disease
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix ORPHA:75234
Erythroderma Desquamativum
Diarrhea, Failure to thrive, Seborrheic dermatitis ORPHA:314
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Increased ... ORPHA:540
Immunodeficiency 19
Recurrent otitis media, Failure to thrive, Chronic diarrhea OMIM:615617
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Diarrhea, Increased circulating IgE level, Recur... ORPHA:277
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... ORPHA:298
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Diarrhea, Weight loss, Increased circulatin... OMIM:209950
Proprotein Convertase 1/3 Deficiency
Diarrhea, Malabsorption, Obesity, Villous atrophy OMIM:600955
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Turcot Syndrome With Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Vomiti... ORPHA:99818
Visceral Myopathy 1
Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Abdominal pain, Pancreatitis... OMIM:155310
Immunodeficiency, Common Variable, 1
Pneumonia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased circulating total IgM, Conjun... OMIM:607594
Attrv30M Amyloidosis
Diarrhea, Constipation, Weight loss ORPHA:85447
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Immunodeficiency 56
Failure to thrive, Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Panhypogam... OMIM:615207
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Failure to thrive, Diarrhea, Vomiting, Hypoalbuminemia, Protein-losing enteropat... OMIM:602579
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Skin rash, Lymphoproliferative disorder, Neoplasm by a... ORPHA:33276
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Protracted diarrhea, Hematochezia,... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Protracted diarrhea, Hematochezia,... ORPHA:100082
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chronic diarrhea, ... OMIM:619858
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Macroglossia, I... OMIM:242860
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Decreased circulating antibody l... OMIM:226300
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, B Acute Lymphoblastic Leukemia, Chronic diarrhea, Recurrent pneumonia, Agammag... OMIM:619824
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Pancreatitis, Abdominal pain OMIM:620137
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... ORPHA:793
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni... ORPHA:47
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Diarrhea, Weight loss, Neoplasm of the lung, Pheochromocytoma, D... ORPHA:1332
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... ORPHA:1333
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia,... OMIM:618999
Refractory Celiac Disease
Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Abdominal pain, Chronic dia... ORPHA:398063
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, High ... OMIM:614069
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... ORPHA:65682
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Diarrhea, Increased circulating IgG level, Recurrent otitis m... OMIM:618495
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Bloody dia... OMIM:617718
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Keratitis, Chronic diarrhea, Increased circulating IgE level, Bronchiectasis, Macroglossi... OMIM:618523
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Myelodysplasia, Abdominal pain, Dia... ORPHA:486
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Diarrhea, Patent duct... ORPHA:79076
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Poor appetite, Myelodysplasia, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomit... ORPHA:927
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Patent ductus arteriosus, Diarrhea, Protein-losing enteropathy, Vomiting, H... OMIM:608104
Neuroendocrine Tumor Of The Colon
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Protracted diarrhea, Melena, Blood... ORPHA:100080
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Chronic diarrhea, Increased circulating antibody level OMIM:615285
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,... ORPHA:309031
Rapadilino Syndrome
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Pancreatic islet cell adenoma, Diarrhea, Pituitary adenoma, Insulinoma, Parathyroid... OMIM:131100
Carcinoid Syndrome
Nausea and vomiting, Lack of bowel sounds, Hepatic necrosis, Protracted diarrhea, Episodic abdomi... ORPHA:100093
Congenital-Onset Steinert Myotonic Dystrophy
Abdominal pain, Diarrhea, Encopresis, Patent ductus arteriosus, Obesity, Gastroesophageal reflux,... ORPHA:589821
Hereditary Folate Malabsorption
Nausea and vomiting, Anorexia, Diarrhea, Cheilitis, Decreased circulating antibody level, Gastroe... ORPHA:90045
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating creatine kinase concentration, Patent ductus arteriosus, Chronic diarrhea, D... OMIM:614576
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:617765
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Small for gestational age, Elevated circulatin... ORPHA:90051
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Hepatocellular nec... OMIM:201475
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... ORPHA:2686
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Intestinal perforation, Pancreatitis, Diarrhea, Peritonitis, Rectal prolapse, Col... ORPHA:90038
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Feeding difficulties, Vomiting, Increased circulating renin level, Failure to thrive OMIM:177735
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Failure to thrive, Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison syndrome, Pituitary pro... ORPHA:913
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... ORPHA:39812
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Failure to thrive, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption... OMIM:607765
Glutaric Aciduria Iii
Diarrhea, Failure to thrive, Vomiting OMIM:231690
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Diarrhea, Hepatic failure, Steatorrhea OMIM:235555
Satoyoshi Syndrome
Diarrhea, Mildly elevated creatine kinase, Malabsorption OMIM:600705
Porphyria Due To Ala Dehydratase Deficiency
Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Constipation, M... ORPHA:100924
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Sinusitis, Skin rash, Diarrhea, Acute otitis m... ORPHA:572
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Hypoalbuminemia, Protein-losing ente... ORPHA:79327
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... OMIM:618213
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Malabsorption, Abdominal pain, He... ORPHA:98850
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Bronchiectasis OMIM:619446
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Eczema, Abdominal pain, Lymphadenitis, Chroni... OMIM:615895
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Abdominal p... ORPHA:343
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration, I... OMIM:617099
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Skin rash ORPHA:29822
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Vomiting, Hypoalbuminemia, Constrictive pericarditis, Abdominal colic, Intes... ORPHA:90363
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Inflammation of the large intestine, Esophageal stricture, Pancolitis OMIM:620133
American Trypanosomiasis
Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pain, Myocarditi... ORPHA:3386
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... ORPHA:35710
Typhoid
Gastrointestinal hemorrhage, Skin rash, Abdominal pain, Diarrhea, Constipation, Infectious enceph... ORPHA:99745
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Failure to thrive, Vomiting, Nasogastric tube feeding ORPHA:289504
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Anorexia, Poor appetite, Hematemesis, Bowel urgency, Lack of bowel sounds, P... ORPHA:100075
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, D... ORPHA:3261
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Abdominal pain, Intestinal perforat... ORPHA:544482
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Elevated circulating creatine kinase concentration, Poor appetite, Diarrhea, Dysphagia, Nausea ORPHA:352447
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agam... OMIM:601495
Ppoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the pancrea... ORPHA:97278
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Failure to thrive, Skin rash, Pneumonia, Lymphoproliferative... ORPHA:276
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Chronic diarrhea, Sclerosing cholangitis, Esophagitis, Par... OMIM:619652
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Disseminated cutaneous warts, C... ORPHA:90362
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Vomiting OMIM:264350
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni... OMIM:142680
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive ORPHA:71
Congenital Toxoplasmosis
Diarrhea, Failure to thrive in infancy ORPHA:858
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Celiac Disease, Susceptibility To, 1
Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Lymphoma, Thyroiditis, We... OMIM:212750
Immunodeficiency 22
Pericarditis, Failure to thrive, Diarrhea, Protracted diarrhea, Decreased circulating total IgM, ... OMIM:615758
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Feeding difficulties, Bloody diarrhea OMIM:615119
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Po... ORPHA:542323
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea, Hypoalbuminemia, Pancreatitis, Failure to thrive in infancy OMIM:618805
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Protracted... OMIM:610163
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Functional intestinal obstruction, Mechanical ileus, Anorex... ORPHA:100079
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Hepatocellular carcinoma, Nausea OMIM:176000
Immunodeficiency 17
Eczema, Chronic diarrhea, Chronic decreased cirulating IgG2, Abnormal intestine morphology, Anope... OMIM:615607
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:1267
Congenital Disorder Of Glycosylation, Type Iij
Chronic diarrhea, Feeding difficulties, Hepatic failure, Failure to thrive, Recurrent infection o... OMIM:613489
Erythermalgia, Primary
Keratoconjunctivitis sicca, Diarrhea, Xerostomia, Constipation OMIM:133020
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating alpha-fetoprotein concentration, Anorexia, Abdominal distention, Diarrhea, E... ORPHA:100085
Familial Mediterranean Fever
Pericarditis, Elevated circulating C-reactive protein concentration, Abdominal pain, Orchitis, Di... OMIM:249100
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Decreased circulating apolipoprotein A-I concentration, Intestinal o... ORPHA:85450
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, High palate, Gastroesophageal reflux, Decreased body weight, Nasogastric tube feeding OMIM:607906
Microvillus Inclusion Disease
Abdominal distention, Diarrhea, Abnormal small intestinal villus morphology, Villous atrophy ORPHA:2290
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... OMIM:615710
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti... ORPHA:29207
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eczema, Glomerulonephritis, Increased circulating IgE level, Chronic diarrhea, H... OMIM:304790
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Abdominal pain, Diarrhea, Hypoprotei... ORPHA:99828
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Intellectual Developmental Disorder, Autosomal Dominant 51
Chronic diarrhea, Feeding difficulties, Chronic constipation, Recurrent otitis media, Failure to ... OMIM:617788
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Weight... ORPHA:677
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea, Failure to thrive, Fat malabsorption OMIM:211600
Adiposis Dolorosa
Recurrent skin infections, Diarrhea, Xerostomia, Obesity, Arthritis, Constipation ORPHA:36397
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:228371
Boutonneuse Fever
Maculopapular exanthema, Skin rash, Abdominal pain, Diarrhea, Increased circulating IgG level, In... ORPHA:83313
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent aphthous stomatitis, Chronic oral candid... OMIM:150550
Cutaneous Mastocytoma
Maculopapular exanthema, Abdominal pain, Diarrhea, Vomiting, Nausea ORPHA:79455
Somatostatinoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the pancrea... ORPHA:97283
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Dysgammaglobulinemia, Increased circulating IgA level, Diarrhea, Hepatitis, Ch... OMIM:308230
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Oropharyngeal squamous cell carcinoma, Ecz... ORPHA:391487
Syndromic Diarrhea
Villous atrophy, Gastritis, Hepatoblastoma, Small for gestational age, Patent ductus arteriosus, ... ORPHA:84064
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Cachexia, Diarrhea, Vomiting, Decreased liver... ORPHA:42
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... OMIM:162300
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Myeloproliferative... ORPHA:79456
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Patent ductus arteriosus, Diarrhea, Weight loss, Failure to thrive ORPHA:1842
Selective Igm Deficiency
Fasciitis, Non-Hodgkin lymphoma, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infec... ORPHA:331235
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Aa Amyloidosis
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Nausea ORPHA:85445
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Neuroendocrine neoplasm, Carcinoid tumor ORPHA:100084
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Breast carcin... OMIM:175200
Thrombotic Thrombocytopenic Purpura
Diarrhea, Abdominal pain ORPHA:54057
Systemic Capillary Leak Syndrome
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Weight loss, Multiple myeloma, Pancreatitis ORPHA:188
Carnitine Deficiency, Systemic Primary
Diarrhea, Failure to thrive, Vomiting, Elevated circulating creatine kinase concentration OMIM:212140
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndrome, Pituitary prolac... ORPHA:276152
Immunodeficiency 7
Recurrent otitis media, Diarrhea, Failure to thrive, Chronic oral candidiasis OMIM:615387
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive ORPHA:51188
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Anorexia ORPHA:49827
Galactosemia I
Diarrhea, Failure to thrive, Vomiting, Decreased liver function OMIM:230400
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Sinusitis, Increased inflammatory... ORPHA:727
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Weight loss, Elevated circulating C-reactive protein concentration, Abdominal pain ORPHA:54251
B4Galt1-Cdg
Inflammatory abnormality of the skin, Diarrhea, Small for gestational age, Elevated circulating c... ORPHA:79332
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate OMIM:300215
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Diarrhea, Hepatitis, Hematochezia, Acholic stools, Steatorrhea, Hepatic failure OMIM:613812
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Neuroblastoma, Susceptibility To, 1
Ganglioneuroblastoma, Abdominal pain, Diarrhea, Weight loss, Neuroblastoma, Failure to thrive, Ga... OMIM:256700
Glucagonoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the pancrea... ORPHA:97280
Cog4-Cdg
Fatal liver failure in infancy, Failure to thrive in infancy, Feeding difficulties, Intermittent ... ORPHA:263501
Complement Component 5 Deficiency
Intractable diarrhea, Generalized seborrheic dermatitis OMIM:609536
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Feeding difficulties, Dysphagia ORPHA:79101
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Malabsorption, Feeding difficulties in... ORPHA:3260
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Fasciitis, Myositis, Pericarditis, Elevated circulating C-reactive protei... ORPHA:32960
Blue Diaper Syndrome
Diarrhea, Increased body weight ORPHA:94086
Specific Granule Deficiency 2
Myelodysplasia, Recurrent pneumonia, Recurrent otitis media, Intractable diarrhea, Failure to thrive OMIM:617475
Whipple Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Malabsorption, Abdominal pain, Myo... ORPHA:3452
Lassa Fever
Nausea and vomiting, Abdominal pain, Diarrhea, Increased circulating IgM level, Conjunctivitis, D... ORPHA:99824
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro... ORPHA:139411
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Neoplasm of the urethra, Squamous cel... ORPHA:2908
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Peptic ulcer, Myelodysplasia, Abdominal pain, Hematological neoplasm, Dia... ORPHA:98849
Wiskott-Aldrich Syndrome
Lymphoproliferative disorder, Eczema, Increased circulating IgA level, Hematemesis, Diarrhea, Chr... OMIM:301000
Alg8-Cdg
Abnormality of the gastrointestinal tract, Small for gestational age, Diarrhea, Feeding difficult... ORPHA:79325
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Diarrhea, Pust... ORPHA:31205
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Bronchiectasis, Weight loss ORPHA:411703
Hyper-Igd Syndrome
Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Diarrhea, Chronic diar... OMIM:260920
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Good Syndrome
Sinusitis, Recurrent skin infections, Diarrhea, Bronchiectasis, Thymoma, Decreased circulating an... ORPHA:169105
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Nausea, Elevated circulating creatine kinase concentration OMIM:615084
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... OMIM:102700
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Pneumonia, Ab... ORPHA:36234
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Skin rash, Mala... ORPHA:342
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Encephalopathy, Ethylmalonic
Failure to thrive, Chronic diarrhea, Feeding difficulties OMIM:602473
Acrodermatitis Enteropathica
Anorexia, Malabsorption, Poor appetite, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, We... ORPHA:37
Hyperzincemia With Functional Zinc Depletion
Diarrhea, Skin rash OMIM:601979
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Diarrhea, Lymphoma, Uveitis, Arthri... ORPHA:36412
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Cholesteryl Ester Storage Disease
Acute hepatic failure, Failure to thrive, Diarrhea, Esophageal varix, Vomiting, Protuberant abdom... OMIM:278000
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Congenital Myopathy 20
Failure to thrive, Chronic diarrhea, High palate OMIM:620310
Necrotizing Enterocolitis
Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting ORPHA:391673
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Diarrhea, Osteoarthritis, Constipation, Septic arthritis OMIM:608654
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Diarrhea, Epididymitis, Prostatitis, Pyoderma, Conju... OMIM:307200
Methanol Poisoning
Diarrhea, Vomiting, Abdominal pain ORPHA:31825
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Elevated circulating creatine kinase concentration, Feeding difficulties OMIM:255120
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Failure to thrive, Vomiting OMIM:560000
Cocaine Intoxication
Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pain, Intestina... ORPHA:90068
Snakebite Envenomation
Pseudobulbar paralysis, Neuromuscular dysphagia, Vomiting, Diarrhea ORPHA:449285
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea, Malabsorption OMIM:602347
Transcobalamin Ii Deficiency
Failure to thrive, Diarrhea, Decreased circulating total IgM, Vomiting, Decreased circulating IgG... OMIM:275350
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Intestinal edema, Abdominal pain OMIM:106100
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Secretory diarrhea, Hypoalbuminemia, Acne, Seborrheic dermatitis OMIM:614441
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Urinary bladder inflam... ORPHA:556
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Pituitary adenoma, Hepat... ORPHA:199299
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom... ORPHA:652
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Sinusitis, Pneumonia, Malabsorption, Diarrhea, Atypical or prolonged hepatitis... ORPHA:83471
Mednik Syndrome
Jejunal atresia, Diarrhea, Volvulus, Microcolon OMIM:609313
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum alp... OMIM:226730
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy,... OMIM:606367
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Classic Galactosemia
Diarrhea, Hepatic failure, Vomiting, Feeding difficulties ORPHA:79239
Immunodeficiency 31C
Villous atrophy, Osteomyelitis, Eczema, Diarrhea, Bronchiectasis, Chronic mucocutaneous candidias... OMIM:614162
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevate... OMIM:619644
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... ORPHA:100050
Dpm1-Cdg
Elevated circulating creatine kinase concentration, High, narrow palate, Diarrhea, Failure to thr... ORPHA:79322
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Hepatic necrosis, Vomiting, Fai... ORPHA:71212
Plague
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Lymphadenitis, Diarrhea, Erythema ... ORPHA:707
Cold Agglutinin Disease
Nausea and vomiting, Diarrhea ORPHA:56425
Wild Type Attr Amyloidosis
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Intermittent dia... ORPHA:330001
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Chronic diarrhea OMIM:619484
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Discoid lupus ras... ORPHA:93552
Familial Hypoaldosteronism
Nausea and vomiting, Diarrhea, Feeding difficulties, Increased circulating renin level, Failure t... ORPHA:427
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... ORPHA:562639
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Diarrhea, Chronic mucocutaneous candidiasis, Abnormal circulating i... ORPHA:79124
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Pneumonia, Chronic diarrhea, Recurrent otitis media, Failure to thrive, P... OMIM:600802
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Diarrhea, Hepatocellular adenoma, Ulcerative colitis, Enterocolitis, Gout, Thyroiditis, Inflammat... ORPHA:79259
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Chronic diarrhea, Bronchiectasis, Chronic lymphatic leukemia, Increased circulat... OMIM:616005
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Diarrhea, Vomiting, Atopic dermatitis ORPHA:3240
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Failure to thrive in infancy, Partial IgA deficiency, Pustule, Chronic diarrhea, Acute... ORPHA:35078
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Elevated circulating C-reactive protein concentration, Chronic diarrhea, Chronic m... OMIM:116920
Mevalonic Aciduria
Failure to thrive, Skin rash, Elevated circulating creatine kinase concentration, Elevated circul... OMIM:610377
Legionnaires Disease
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Diarrhea, Hepatitis, En... ORPHA:549
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... ORPHA:171
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Immunodeficiency 9
Stomatitis, Failure to thrive, Chronic diarrhea, Recurrent aphthous stomatitis OMIM:612782
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Elevat... OMIM:619573
Familial Glucocorticoid Deficiency
Anorexia, Diarrhea, Testicular adrenal rest tumor, Episodic abdominal pain, Weight loss, Constipa... ORPHA:361
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abd... ORPHA:100078
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Diarrhea, Esophageal varix, Hepatocellular ad... ORPHA:264580
Vipoma
Nausea and vomiting, Neoplasm of the pancreas, Follicular thyroid carcinoma, Anorexia, Malabsorpt... ORPHA:97282
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... OMIM:619708
Relapsing Fever
Diarrhea, Vomiting, Elevated circulating C-reactive protein concentration, Abdominal pain ORPHA:91547
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Iridocyclitis, Diarrhea, Chronic muc... OMIM:240300
Citrullinemia Type Ii
Decreased body mass index, Diarrhea, Vomiting, Hypoalbuminemia, Hepatocellular carcinoma, Hypopro... ORPHA:247585
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Hematemesis, Keratitis, Chronic diarrhea, Lymphoma, Chronic leukemia, Acute le... ORPHA:906
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Diarrhea, Malnutrition, Decreased body weight... ORPHA:96180
Omenn Syndrome
Pneumonia, Diarrhea, Erythroderma, Failure to thrive, Hypoproteinemia OMIM:603554
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Diarrhea, Vomiting, Increased body weight, Large for gestational age ORPHA:263455
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Vomiting, Nephritis, Infectious enceph... ORPHA:2552
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Squamous cell... OMIM:601675
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Increased circulating ... OMIM:214700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Chronic diarrhea, Increased circulating IgE level, Increased cir... ORPHA:169154
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Pericarditis, Failure to thrive, Feeding difficulties in infancy, Diarrhea, Vomi... OMIM:212065
Omenn Syndrome
Pneumonia, Lymphoma, Chronic diarrhea, Thyroiditis, Erythroderma, Failure to thrive ORPHA:39041
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Pyoderma, Eczematoid de... OMIM:242700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Diarrhea, Hepatocellular adenoma, Increased b... ORPHA:79240
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Anorexia, Malabsorption, Diarrhea, Lymphoma, Leukemia, Monoclonal im... ORPHA:33226
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea OMIM:616355
Cystic Fibrosis
Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Bronchiectasis, Recurrent pneumonia, Steatorrhe... OMIM:219700
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Chronic diarrhea, Epididymitis, Bronchiectasis, Recurrent pne... OMIM:300755
Nijmegen Breakage Syndrome
Anal stenosis, Sinusitis, Glioma, Dysgammaglobulinemia, Rhabdomyosarcoma, Diarrhea, Recurrent pne... OMIM:251260
Riddle Syndrome
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Diarrhea, Recurr... ORPHA:420741
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Diarrhea, Failure to thrive, Vomiting OMIM:610768
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Diarrhea ORPHA:90035
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Failure to thrive, Cachexia, Abdominal pain,... ORPHA:275761
Fumarase Deficiency
Necrotizing enterocolitis, Failure to thrive, Cutaneous leiomyoma, High palate, Hepatic failure OMIM:606812
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... ORPHA:2241
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Increased circulating ferritin... OMIM:615846
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... ORPHA:469
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea OMIM:619849
Bronchial Neuroendocrine Tumor
Pneumonia, Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Pulmonary carcinoid tumor... ORPHA:97287
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Feeding difficulties, High palate, Constipation, Otitis media, Intermittent diarrhea, F... OMIM:618050
Biotinidase Deficiency
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties in infancy, Dia... OMIM:253260
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Aganglionic megacol... ORPHA:653
Lujo Hemorrhagic Fever
Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein concentration, Myocar... ORPHA:319213
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Feeding difficulties,... ORPHA:2176
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Skin rash, Lymphadenitis, Decreased circulating antibody level, Protracted dia... ORPHA:331206
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abdominal pain, Diarrhea... ORPHA:36426
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties in infanc... OMIM:613385
Mirage Syndrome
Myelodysplasia, Patent ductus arteriosus, Chronic diarrhea, Esophageal stricture, Gastroesophagea... OMIM:617053
Young-Onset Parkinson Disease
Diarrhea, Constipation, Nausea, Gastroparesis ORPHA:2828
Shwachman-Diamond Syndrome 2
Diarrhea, High palate, Steatorrhea, Failure to thrive, Exocrine pancreatic insufficiency OMIM:617941
Mucopolysaccharidosis, Type Iiic
Diarrhea, Dysphagia OMIM:252930
Pediatric-Onset Graves Disease
Nausea and vomiting, Episcleritis, Keratitis, Diarrhea, Failure to thrive ORPHA:525731
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Constipation, Vomiting OMIM:223900
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... ORPHA:79276
Lysinuric Protein Intolerance
Protein avoidance, Increased circulating ferritin concentration, Diarrhea, Malnutrition, Pancreat... OMIM:222700
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Psoriasiform dermatitis, Diarrhea, Decreased circulating antibody level... ORPHA:221139
Glycogen Storage Disease Ib
Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carcinoma, Pancrea... OMIM:232220
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Diarrhea OMIM:619313
Mucopolysaccharidosis, Type Iiib
Diarrhea OMIM:252920
Addison Disease
Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Thymoma, Weight loss, Co... ORPHA:85138
Fabry Disease
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea OMIM:301500
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea OMIM:608643
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting ORPHA:454831
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Intestinal malrotation, Abdominal distention, Gastrointestinal atresia, ... ORPHA:436252
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Elevated circulating C-reactive protein concentration, Obesity, Inflammation of th... ORPHA:70591
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Failure to thrive, Poor appetite OMIM:201100
Mucopolysaccharidosis, Type Iiia
Diarrhea OMIM:252900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Chronic diarrhea, Increased circulating IgE level, Otitis media, Failure to thrive, Pa... OMIM:602450
Rothmund-Thomson Syndrome Type 2
Small for gestational age, Myelodysplasia, Diarrhea, Lymphoma, Functional abnormality of the gast... ORPHA:221016
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... ORPHA:2131
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Diarrhea, Recurrent pneumonia, Macroglossia, Recurrent otitis media OMIM:309900
Glycogen Storage Disease Ic
Hepatoblastoma, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular c... OMIM:232240
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Small for gestational age, Weight loss ORPHA:424
Amyloidosis, Hereditary, Transthyretin-Related
Episodic vomiting, Diarrhea, Constipation OMIM:105210
Rothmund-Thomson Syndrome Type 1
Small for gestational age, Myelodysplasia, Diarrhea, Functional abnormality of the gastrointestin... ORPHA:221008
Rothmund-Thomson Syndrome
Skin rash, Small for gestational age, Myelodysplasia, Nasogastric tube feeding in infancy, Diarrh... ORPHA:2909
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Feeding difficulties in infancy, Overweight, Chronic diarrhea, Chronic constipation, Gastroesopha... ORPHA:500055
Cholera
Achlorhydria, Abdominal pain, Diarrhea, Vomiting, Abdominal cramps, Aspiration pneumonia ORPHA:173
Ataxia-Telangiectasia
Failure to thrive, Sinusitis, Elevated circulating alpha-fetoprotein concentration, Decreased cir... OMIM:208900
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Diarrhea, V... ORPHA:324636
Developmental And Epileptic Encephalopathy 50
Diarrhea, Failure to thrive, Dysphagia OMIM:616457
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, Diarrhea, Na... OMIM:608836
Diarrhea 10, Protein-Losing Enteropathy Type
Secretory diarrhea, Decreased circulating antibody level, Hematochezia, Feeding difficulties, Pro... OMIM:618183
Beta-Ketothiolase Deficiency
Diarrhea, Vomiting, Anorexia, Weight loss ORPHA:134
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Chronic decreased circulating IgG1 OMIM:300953
Acute Adrenal Insufficiency
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Weight loss, Constipation, Increased cir... ORPHA:95409
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Failure to thrive, Small for gestational age, Anorexia, Malabsorption, Chronic d... OMIM:557000
Nijmegen Breakage Syndrome
Anal stenosis, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Cachexia, Anorectal anomaly, Chronic di... ORPHA:647
Immunodeficiency 55
Diarrhea, Recurrent skin infections, Eczema, Myelodysplasia OMIM:617827
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Patent ductus arteriosus, Ulcerative colitis, ... OMIM:617137
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Skin rash, Diarrhea, Episodic vomiting, Vomiting OMIM:618321
Sarcoidosis, Susceptibility To, 1
Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Weight loss, Arthritis, Inflammation of the lar... OMIM:181000
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Esophageal stricture, Chronic diarrhea, Oral leukoplakia OMIM:613989
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Chronic diarrhea, Bronchiectasis, Gastroesophageal reflux, Vomiting, Recurr... OMIM:620233
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Failure to thrive, Reye syndrome-like episodes, Diarrhea, Osteomyelitis le... OMIM:256810
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Abdominal pain, Pustule, Myocarditis, Diarrhea, Peritonit... ORPHA:533
Fructose-1,6-Bisphosphatase Deficiency
Reye syndrome-like episodes, Diarrhea, Vomiting ORPHA:348
Melas
Intestinal pseudo-obstruction, Diarrhea, Gastrointestinal dysmotility, Vomiting, Constipation, Re... ORPHA:550
Serotonin Syndrome
Diarrhea, Hepatic failure, Nausea ORPHA:43116
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Diarrhea, Weight loss, Episodic vomiting ORPHA:20
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Pericarditis, Maculopapular exanthema, Elevated circul... ORPHA:99826
Dominant Beta-Thalassemia
Failure to thrive in infancy, Diarrhea, Feeding difficulties, Chronic hepatitis, Hepatocellular c... ORPHA:231226
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Chronic diarrhea, Hepatitis, Cleft palate, Ch... OMIM:614921
Dubowitz Syndrome
Eczema, Feeding difficulties in infancy, Velopharyngeal insufficiency, Chronic diarrhea, Submucou... OMIM:223370
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea, Acne, Seborrheic dermatitis OMIM:167100
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Glomerulonephritis, Abdominal pain,... ORPHA:340
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Diarrhea, Hepatitis, C... ORPHA:2331
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Failure to thrive, Chronic diarrhea, Feeding difficulties, Dysphagia OMIM:620358
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Diarrhea, Esophageal stricture... ORPHA:99921
Lysinuric Protein Intolerance
Failure to thrive, Glomerulonephritis, Increased circulating ferritin concentration, Diarrhea, In... ORPHA:470
Japanese Encephalitis
Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, Vomiting, Increased circulat... ORPHA:79139
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Failure to thrive, Chronic diarrhea, Recurrent... OMIM:612132
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed ton... OMIM:158310
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Intestinal perforation, Bloody diarrhea, Hematochezia, ... ORPHA:464321
Trichohepatoneurodevelopmental Syndrome
Patent ductus arteriosus, Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophageal ... OMIM:618268
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Failure to thrive in infancy, Elevated circulating alpha-fetoprotein... ORPHA:247598
Mucopolysaccharidosis, Type Iiid
Diarrhea, Dysphagia, Macroglossia, Tube feeding, Recurrent otitis media OMIM:252940
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Rhinitis, Vomiting ORPHA:230
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Small for gestational age, Protruding tongue, Keratitis, Chronic diarrhea, ... ORPHA:99843
Cockayne Syndrome Type 1
Diarrhea, Failure to thrive, Conjunctivitis, Uveitis ORPHA:90321
Colchicine Poisoning
Myocarditis, Diarrhea, Vomiting, Nausea ORPHA:31824
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate ORPHA:457279
Trichohepatoenteric Syndrome 1
Villous atrophy, Failure to thrive, Small for gestational age, Decreased circulating antibody lev... OMIM:222470
Beta-Thalassemia Major
Diarrhea, Feeding difficulties, Failure to thrive in infancy, Hepatocellular carcinoma ORPHA:231214
Immunodeficiency 47
Chronic diarrhea, Decreased circulating antibody level, Decreased circulating total IgA, Decrease... OMIM:300972
Dubowitz Syndrome
Anal stenosis, Eczema, Malabsorption, Rectal prolapse, Submucous cleft hard palate, Chronic diarr... ORPHA:235
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... ORPHA:95455
Sandhoff Disease
Macroglossia, Chronic diarrhea, Episodic abdominal pain OMIM:268800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Diarrhea, Feeding difficulties, Hepatocellular necrosis, Failure... OMIM:618278
Diamond-Blackfan Anemia 21
Chronic diarrhea, Obesity, Osteosarcoma OMIM:620072
Distal Renal Tubular Acidosis
Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive ORPHA:18
Cerebrotendinous Xanthomatosis
Pseudobulbar paralysis, Diarrhea OMIM:213700
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Anorexia, Pituitary corticotrop... ORPHA:99889
Crimean-Congo Hemorrhagic Fever
Nausea and vomiting, Acute pancreatitis, Elevated circulating creatine kinase concentration, Anor... ORPHA:99827
Abetalipoproteinemia
Chronic diarrhea, Keratoconjunctivitis sicca, Vomiting, Abnormal circulating apolipoprotein conce... ORPHA:14
Liver Disease, Severe Congenital
Chronic gastritis, Failure to thrive, Eczema, Elevated circulating alpha-fetoprotein concentratio... OMIM:619991
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Patent ductus arteriosus, Peritonitis, Pyelonephritis, Micro... OMIM:619351
Farber Disease
Failure to thrive, Chronic diarrhea, Feeding difficulties, Arthritis, Hepatic failure ORPHA:333
Yellow Fever
Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Elevated circul... ORPHA:99829
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Microcolon ORPHA:163746
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Hepatic failure OMIM:619431
Glycogen Storage Disease Ia
Gout, Protuberant abdomen, Hepatocellular carcinoma, Intermittent diarrhea, Pancreatitis OMIM:232200
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p... ORPHA:158668
Deeah Syndrome
Malabsorption, Chronic diarrhea, Narrow palate, Chronic constipation, High palate, Dysphagia, Dec... OMIM:619004
Steinert Myotonic Dystrophy
Endometrial carcinoma, Brain neoplasm, Intestinal pseudo-obstruction, Choroidal melanoma, Oral-ph... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Obesity, Gastroin... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Obesity, Gastroin... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Obesity, Gastroin... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Obesity, Gastroin... ORPHA:99226
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea OMIM:235400
Chikungunya
Maculopapular exanthema, Skin rash, Erythema nodosum, Diarrhea, Crusting erythematous dermatitis,... ORPHA:324625
Bartter Syndrome, Type 1, Antenatal
Small for gestational age, Diarrhea, Constipation, Vomiting, Increased circulating renin level, F... OMIM:601678
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Chronic constipation, Chronic diarrhea, High palate, Decreased body weight OMIM:619005
Gitelman Syndrome
Nausea and vomiting, Neoplasm of the pancreas, Abdominal pain, Diarrhea, Gout, Tubulointerstitial... ORPHA:358
Alg9-Cdg
Villous atrophy, Diarrhea, Gastroesophageal reflux, Vomiting, Bifid uvula ORPHA:79328
Proximal Renal Tubular Acidosis
Diarrhea, Failure to thrive, Vomiting, Malabsorption ORPHA:47159
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia ORPHA:3164
Leptospirosis
Nausea and vomiting, Pericarditis, Skin rash, Anorexia, Abdominal pain, Diarrhea, Hepatitis, Uvei... ORPHA:509
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Pelvic bone exostoses, Hiatus hernia, Chronic ... OMIM:304150
Acute Liver Failure
Gastrointestinal hemorrhage, Skin rash, Diarrhea, Hepatitis, Hepatic necrosis, Hepatocellular nec... ORPHA:90062
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Microcolon OMIM:619362
Nmda Receptor Encephalitis
Ovarian teratoma, Neoplasm of the thymus, Diarrhea, Hodgkin lymphoma, Neoplasm of the lung, Vomit... ORPHA:217253
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Diarrhea, Constipation, Vomiting, Increased circulating renin level, F... OMIM:241200
Mucopolysaccharidosis Type 3
Malabsorption, Macroglossia, Constipation, Otitis media, Dysphagia, Chronic otitis media, Intermi... ORPHA:581
Scorpion Envenomation
Acute pancreatitis, Increased circulating NT-proBNP concentration, Abdominal pain, Myocarditis, D... ORPHA:466677
Hurler Syndrome
Macroglossia, Rhinitis, Chronic diarrhea, Feeding difficulties ORPHA:93473
Ogden Syndrome
Eczema, Patent ductus arteriosus, Diarrhea, Narrow palate, Feeding difficulties, Vomiting, High p... OMIM:300855
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Chronic diarrhea, Obesity, Feeding difficulties, Truncal obesity, Ankyloglos... OMIM:615873
Zttk Syndrome
Feeding difficulties in infancy, Patent ductus arteriosus, Submucous cleft hard palate, Chronic d... OMIM:617140
Mowat-Wilson Syndrome
Decreased body weight, Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric sten... ORPHA:2152
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Diarrhea, Feeding difficulties, Recurrent pancreatitis, Vomiting, Dysp... OMIM:606721
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Small for gestational age, Intestinal malrotation, Patent ductus arteriosus, Feeding difficulties... ORPHA:2255
Viss Syndrome
Chronic gastritis, High, narrow palate, Increased circulating IgG level, Gastroesophageal reflux,... OMIM:619472
Pearson Syndrome
Small for gestational age, Exocrine pancreatic insufficiency, Chronic diarrhea, Dysphagia, Steato... ORPHA:699
African Trypanosomiasis
Pericarditis, Keratitis, Myocarditis, Diarrhea, Weight loss, Vomiting, Optic neuritis, Conjunctiv... ORPHA:3385
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroparesis, Failure to thrive in infancy, Feeding difficulties in infancy, Gastrointestinal dy... ORPHA:500150
Cerebrotendinous Xanthomatosis
Chronic diarrhea ORPHA:909
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Chronic diarrhea, Arthritis ORPHA:217085
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Macroglossia, Chronic diarrhea ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Chronic diarrhea, Arthritis ORPHA:217093
Aspartylglucosaminuria
Macroglossia, Diarrhea, Acne OMIM:208400

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 Mir139

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 Mir139.

No publications found that use IMPC mice or data for Mir139.

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