banner
Genes Phenotypes Help, News, Blog

Gene: Rab8a MGI:96960

Log in to follow

Gene Summary

Name:
RAB8A, member RAS oncogene family
Synonyms:
Mel

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Rab8aem1(IMPC)J HET Early adult 2.09×10-07
decreased lean body mass Rab8aem1(IMPC)J HET Early adult 3.26×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View images
X-ray

XRay Images Skull Lateral Orientation

9 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

View images
X-ray

XRay Images Forepaw

9 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Human diseases caused by Rab8a 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 Rab8a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lactose Intolerance, Adult Type
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... OMIM:223100
Diarrhea 9
Diarrhea, Villous atrophy, Failure to thrive OMIM:618168
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Villous atrophy, Crypt hyperplasia, Small for gestationa... OMIM:613217
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Failure to thrive, Villous atrophy OMIM:615863
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal d... ORPHA:103907
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea OMIM:251850
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Aids Wasting Syndrome
Malnutrition, Malabsorption, Cachexia, Weight loss, Anorexia ORPHA:90081
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption OMIM:613291
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo... OMIM:613662
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Trehalase Deficiency
Abdominal pain, Diarrhea OMIM:612119
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Vomiting, Diarrhea, Failure to thrive, Renal tubular dysfunction, Abno... OMIM:606528
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Vomiting, Gastroesophageal reflux, Abdominal colic, Failure to thrive, Abdominal pain, ... ORPHA:35122
Intestinal Dysmotility Syndrome
Diarrhea, Decreased intestinal transit time, Failure to thrive, Feeding difficulties, Weight loss... OMIM:620045
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... OMIM:615237
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
5-Oxoprolinase Deficiency
Diarrhea, Prolinuria, Vomiting, Enterocolitis, Calcium oxalate nephrolithiasis, Abdominal pain, I... OMIM:260005
Chylomicron Retention Disease
Vomiting, Diarrhea, Failure to thrive, Malnutrition, Accumulation of lipid droplets in small-bowe... OMIM:246700
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo... ORPHA:160148
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Failure to thrive, Malnutrition, Villous atrophy, Abnormal small in... ORPHA:95427
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Hirschsprung Disease
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Int... ORPHA:388
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Diarrhea, Vomiting, Proximal tubulopathy, Failure to thrive, Cachexia, Weight loss... OMIM:612075
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Rectal prolapse, Chronic constipation, Dec... ORPHA:209964
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Vil... ORPHA:92050
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Small Bowel Atresia
Vomiting, Failure to thrive, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdo... ORPHA:1201
Idiopathic Achalasia
Gastroesophageal reflux, Dysphagia, Weight loss, Malnutrition ORPHA:930
Microvillus Inclusion Disease
Nephrocalcinosis, Diarrhea, Abdominal distention, Villous atrophy, Abnormal small intestinal vill... ORPHA:2290
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... OMIM:175500
Angioedema, Hereditary, 8
Abdominal pain, Diarrhea, Episodic vomiting OMIM:619367
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abdominal distention ORPHA:103910
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Failure to thrive, Bloody diarrhea OMIM:614328
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption, Nephrolithiasis OMIM:222900
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Trichohepatoenteric Syndrome 2
Diarrhea, Small for gestational age, Failure to thrive, Villous atrophy, Colitis, Chronic diarrhe... OMIM:614602
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c... ORPHA:2494
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Diarrhea, Failure to thrive OMIM:610370
Pouchitis
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... ORPHA:217067
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Cachexia, Abdominal distention, Steatorrhea, ... ORPHA:75233
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Colonic diverticula, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutriti... OMIM:603041
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Diarrhea, Vomiting, Gastrointestinal dysmotility, Abnormality of the gas... ORPHA:298
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss, Anorexia ORPHA:52416
Proprotein Convertase 1/3 Deficiency
Diarrhea, Obesity, Villous atrophy, Malabsorption OMIM:600955
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic failure, Proximal tubulopathy, Diarrhea, Vomiting, Failure to... OMIM:602579
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Megacystis, ... OMIM:619350
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting, Methylmalonic aciduria, Failure to thrive OMIM:614265
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Mala... ORPHA:2930
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Chronic diarrhea, Cachexia, Steatorrhea, Duodenal ulcer ORPHA:3217
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Alexander Disease Type I
Cachexia, Vomiting, Dysphagia, Failure to thrive ORPHA:363717
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, W... ORPHA:26790
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Gastrostomy tube feeding in infancy, Weight loss, Nasogastric tube feeding in infan... ORPHA:141152
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Coproporphyria, Hereditary
Diarrhea, Vomiting, Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Incr... OMIM:121300
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Malabsorption, Abnormality of the g... ORPHA:2070
Autoinflammation With Infantile Enterocolitis
Secretory diarrhea, Failure to thrive, Villous atrophy, Feeding difficulties in infancy, Enteroco... OMIM:616050
Vascular Hyalinosis
Protein-losing enteropathy, Diarrhea, Hematochezia, Malabsorption OMIM:277175
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia, Dysphagia OMIM:618093
Diencephalic Syndrome
Cachexia, Long penis, Decreased body weight ORPHA:1672
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Rabies
Diarrhea, Nausea and vomiting, Anorexia ORPHA:770
Immunodeficiency 104
Diarrhea, Gastroesophageal reflux, Failure to thrive secondary to recurrent infections OMIM:608971
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Urinary retention, Megacystis, Mal... OMIM:155310
Jejunal Atresia
Jejunal atresia OMIM:243600
Mulibrey Nanism
Cachexia ORPHA:2576
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Cachexia, Weight loss, Abdominal distention, Abdominal pain ORPHA:83469
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Refractory Celiac Disease
Protein-losing enteropathy, Jejunitis, Malnutrition, Villous atrophy, Malabsorption, Weight loss,... ORPHA:398063
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Immunodeficiency 85 And Autoimmunity
Vomiting, Failure to thrive in infancy, Villous atrophy, Tube feeding, Chronic diarrhea OMIM:619510
Osteootohepatoenteric Syndrome
Secretory diarrhea, Failure to thrive, Increased intestinal transit time, Villous atrophy, Grade ... OMIM:619377
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Renal insufficienc... ORPHA:35710
Volvulus Of Midgut
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... OMIM:193250
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Diarrhea, Vomiting, Failure to thrive, Villous atrophy, High palate OMIM:601110
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Brunner Syndrome
Diarrhea OMIM:300615
Laryngotracheoesophageal Cleft Type 4
Cachexia, Tracheoesophageal fistula, Intestinal atresia ORPHA:93941
Christianson Syndrome
Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia ORPHA:85278
Attrv30M Amyloidosis
Nephropathy, Diarrhea, Constipation, Weight loss, Abnormal renal physiology ORPHA:85447
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Intussusception, Failure to thrive, Duodenal adenocarcinoma, Multiple gas... OMIM:174900
Diarrhea 13
Vomiting, Secretory diarrhea, Failure to thrive OMIM:620357
Moynahan Syndrome
Cachexia ORPHA:2574
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Central Diabetes Insipidus
Diarrhea, Failure to thrive, Nocturia, Nausea and vomiting, Weight loss, Anorexia ORPHA:178029
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Cachexia, Ileus, Constipation ORPHA:52503
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Inflammation of the large intestine, Failure to thrive, Crohn's disease OMIM:615767
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Failure to thrive, D... ORPHA:79319
Glucose/Galactose Malabsorption
Glycosuria, Failure to thrive, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chr... OMIM:606824
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption, Failure to thrive OMIM:607748
Pancreatic Colipase Deficiency
Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea ORPHA:309108
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma... ORPHA:90362
Radiation Proctitis
Hematochezia, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, Abdominal p... ORPHA:70475
Pulmonary Blastoma
Weight loss ORPHA:64741
Alpha-Heavy Chain Disease
Abdominal pain, Abnormal small intestine morphology, Malabsorption ORPHA:100025
Mhc Class Ii Deficiency 1
Failure to thrive, Protracted diarrhea, Villous atrophy, Malabsorption, Colitis OMIM:209920
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Diarrhea, Vomiting, Elevated urinary 3-hydroxybutyric acid, Decreased liver function, Dicarboxyli... ORPHA:42
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Intermittent diarrhea, Feeding difficulties OMIM:620270
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain ORPHA:168811
Inflammatory Pseudotumor Of The Liver
Vomiting, Neoplasm of the liver, Abdominal pain, Weight loss, Abdominal distention, Nausea ORPHA:90003
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Constipation, Feeding difficulties OMIM:616801
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Villous atrophy, Ileus, Glomerulonephritis, Chronic diarrhea OMIM:304790
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Protein-losing enteropathy, Lacticaciduria OMIM:619063
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Renpenning Syndrome
High, narrow palate, Cachexia, Anal atresia, Hypospadias, Cleft palate ORPHA:3242
Laryngeal Neuroendocrine Tumor
Weight loss, Oral-pharyngeal dysphagia, Anorexia ORPHA:100083
Sandhoff Disease, Juvenile Form
Diarrhea, Failure to thrive, Constipation, Urinary incontinence, Dysphagia ORPHA:309162
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Failure to thrive, Perianal abscess, Gastritis OMIM:618108
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss, Nausea and vomiting, Feeding difficulties ORPHA:79238
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting, Esophageal varix ORPHA:75234
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Nausea and vomiting, Weight loss, Acholic stools, Abdominal pain, Chronic diarrhea, Hep... ORPHA:65682
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Erythroderma Desquamativum
Diarrhea, Failure to thrive ORPHA:314
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Fat malabsorption, Failure to thrive, Hepatocellular carcinoma OMIM:601847
Chylomicron Retention Disease
Diarrhea, Vomiting, Failure to thrive, Abdominal distention, Steatorrhea, Fat malabsorption ORPHA:71
Alg1-Cdg
Protein-losing enteropathy, Decreased liver function, Renal insufficiency, Abnormality of the gas... ORPHA:79327
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Neuroendocrine Tumor Of The Rectum
Hematochezia, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Anorexia, Hypoactive bowel sou... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Anorexia, Hypoactive bowel sou... ORPHA:100082
Glutaric Aciduria Iii
Diarrhea, Glutaric aciduria, Vomiting, Failure to thrive OMIM:231690
Mungan Syndrome
Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, ... OMIM:611376
Peritoneal Cystic Mesothelioma
Peritonitis, Constipation, Weight loss, Abdominal distention, Abdominal pain ORPHA:168816
Lysosomal Acid Lipase Deficiency
Hepatic failure, Diarrhea, Vomiting, Hypernatriuria, Decreased liver function, Malnutrition, Abno... ORPHA:275761
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Vomiting, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hyper... OMIM:143880
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hepatic failure, Diarrhea, Failure to thrive OMIM:235555
Chronic Hiccup
Weight loss, Malnutrition ORPHA:396
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Reticular Dysgenesis
Diarrhea, Weight loss, Malabsorption, Failure to thrive ORPHA:33355
Tetrasomy 12P
Abnormal soft palate morphology, Anal atresia, Cachexia ORPHA:884
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Diarrhea, Failure to thrive, Acholic stools, Steatorrhea, Fat malabsorption OMIM:607765
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Gastroesophageal reflux, Feeding difficulties, Malnutrition OMIM:619971
Undifferentiated Pleomorphic Sarcoma
Weight loss, Anorexia ORPHA:2023
Immunodeficiency 19
Chronic diarrhea, Failure to thrive OMIM:615617
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Narrow palate, High palate, Gastroesophageal reflux OMIM:618186
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia, Constipation, Nasogastric tube feeding in infancy, Feeding di... ORPHA:371364
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Malabsorption, Failure to thrive OMIM:229050
Mcdonough Syndrome
Cachexia ORPHA:2471
Malonyl-Coa Decarboxylase Deficiency
Diarrhea, Vomiting, Elevated urine suberic acid level, Methylmalonic aciduria, Chronic constipati... OMIM:248360
Netherton Syndrome
Recurrent infection of the gastrointestinal tract, Villous atrophy, Intestinal atresia, Failure t... OMIM:256500
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Intestinal obstruction, Weight... ORPHA:85450
Rett Syndrome
Cachexia, Gastroesophageal reflux, Constipation OMIM:312750
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nephrotic syndrome, Vomiting, Secretory diarrhea, Nasogastric tube feeding, Failure to thrive in ... ORPHA:37042
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Malabsorption, Jej... OMIM:615710
Neuroendocrine Tumor Of The Colon
Melena, Lack of bowel sounds, Protracted diarrhea, Hypoactive bowel sounds, Bowel urgency, Weight... ORPHA:100080
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Failure to thrive OMIM:613501
Porphyria, Acute Intermittent
Diarrhea, Vomiting, Urinary retention, Paralytic ileus, Nausea, Abdominal pain, Constipation, Uri... OMIM:176000
Cog7-Cdg
Diarrhea, Failure to thrive, Small for gestational age, Feeding difficulties ORPHA:79333
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Bloody diarrhea, Intestinal obstruction, Gastrointestinal dysmotil... ORPHA:67
Silver-Russell Syndrome
Gastroesophageal reflux, Failure to thrive in infancy, Obesity, Cachexia, Constipation, Hypospadi... ORPHA:813
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Chromosome 19P13.13 Deletion Syndrome
Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties OMIM:613638
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Bowel incontinence ORPHA:702
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Pancreatoblastoma
Vomiting, Diarrhea, Weight loss, Abdominal distention, Abdominal pain ORPHA:677
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Hepatic failure, Vomiting, Failure to thrive, Exocrine pancreatic insu... OMIM:557000
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Villous atrophy, Weight loss, Gastrointestinal eosinophilia... OMIM:614162
Immunodeficiency 11B With Atopic Dermatitis
Chronic diarrhea, Ulcerative colitis, Colonic eosinophilia OMIM:617638
Maculopapular Cutaneous Mastocytosis
Nausea, Vomiting, Diarrhea, Abdominal pain ORPHA:79457
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea, Fat malabsorption, Failure to thrive OMIM:211600
Combined Malonic And Methylmalonic Acidemia
Vomiting, Methylmalonic aciduria, Failure to thrive, Nasogastric tube feeding, Dicarboxylic acidu... ORPHA:289504
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Vomiting, Failure to thrive, Feeding difficulties in infancy, Renal salt wasting OMIM:264350
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Cachexia, Methylmalonic aciduria ORPHA:1933
Enteric Anendocrinosis
Vomiting, Diarrhea, Malabsorption ORPHA:83620
Congenital Disorder Of Glycosylation, Type Il
Villous atrophy, Polycystic kidney dysplasia, Failure to thrive OMIM:608776
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Vomiting, Diarrhea, Failure to thrive, Decreased liver function, Abdo... OMIM:608104
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections OMIM:601457
Whipple Disease
Gastrointestinal hemorrhage, Diarrhea, Malabsorption, Cachexia, Anorexia, Abdominal pain ORPHA:3452
Congenital-Onset Steinert Myotonic Dystrophy
Diarrhea, Gastroesophageal reflux, Enuresis, Obesity, Encopresis, Decreased body weight, Constipa... ORPHA:589821
Aromatic L-Amino Acid Decarboxylase Deficiency
Diarrhea, Gastroesophageal reflux, Failure to thrive, Constipation, Dysphagia, Feeding difficulties ORPHA:35708
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Decreased mitochondrial number, Nephrolithiasis, Nausea, Dysphagia, Poor appetite ORPHA:352447
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive OMIM:228600
Acquired Hypertrichosis Lanuginosa
Weight loss, Macroglossia, Glossitis, Chronic diarrhea, Poor appetite ORPHA:2221
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Failure to thrive, Villous atrophy, Coli... OMIM:614700
Alg6-Cdg
Protein-losing enteropathy, Macroglossia, Failure to thrive, Feeding difficulties ORPHA:79320
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Yao Syndrome
Diarrhea, Xerostomia, Nephrolithiasis, Weight loss, Abdominal pain OMIM:617321
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Intestinal inflammation, Proteinuria, Membranoproliferative glomerulonephritis... OMIM:619858
Infantile Krabbe Disease
Vomiting, Gastroesophageal reflux, Failure to thrive, Cachexia, Nasogastric tube feeding in infan... ORPHA:206436
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Chronic diarrhea, Enlarged kidney, Failure to thrive OMIM:615285
Majeed Syndrome
Failure to thrive, Malabsorption, Proteinuria, Cachexia, Weight loss, Microscopic hematuria ORPHA:77297
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... ORPHA:131
Rapadilino Syndrome
High, narrow palate, Diarrhea, Feeding difficulties, High palate, Cleft palate OMIM:266280
Neuroendocrine Tumor Of Stomach
Hepatic failure, Lack of bowel sounds, Protracted diarrhea, Anorexia, Nausea and vomiting, Zollin... ORPHA:100075
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Increased fecal coproporphyrin 3, Purple urine, Increased urinary porphobilinogen, Abdo... ORPHA:100924
Dracunculiasis
Diarrhea, Nausea and vomiting ORPHA:231
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Diarrhea, Vomiting, Failure to thrive, Villous atrophy, Proteinuria, Renal ... OMIM:212065
Amyotrophic Lateral Sclerosis
Xerostomia, Nausea and vomiting, Cachexia, Dysphagia, Tongue atrophy ORPHA:803
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Abdominal pain, Vomiting OMIM:620137
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Exocrine pancreatic insufficiency, Nausea and vomiting, Neoplasm o... ORPHA:1333
Immunodeficiency 76
Colitis, Chronic diarrhea OMIM:619164
Inflammatory Skin And Bowel Disease, Neonatal, 2
Vomiting, Secretory diarrhea, Failure to thrive OMIM:616069
Botulism
Diarrhea, Xerostomia, Urinary retention, Nausea and vomiting, Constipation, Abdominal pain, Dysph... ORPHA:1267
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Abdominal pain, Colitis OMIM:613960
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Cachexia, Dysphagia, Gastrostomy tube feeding in infancy ORPHA:300605
Methionine Malabsorption Syndrome
Aminoaciduria, Diarrhea OMIM:250900
Immunodeficiency 15B
Chronic diarrhea, Failure to thrive OMIM:615592
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Failure to thrive in infancy, Villous atrophy, Chronic diarrhea OMIM:606367
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Intestinal... OMIM:243150
Galactosemia I
Aminoaciduria, Galactosuria, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Inc... OMIM:230400
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Vomiting, Diarrhea, Intestinal lymphangiectasia, Malabsorption, Intestinal obstruction, Abnormal ... OMIM:226300
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Failure to thrive, Reye syndrome-like episodes, Nausea, Feeding difficulties,... ORPHA:927
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Vomiting, Failure to thrive, Nasoga... ORPHA:1018
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Vomiting, Malnutrition, Malabsorption, ... ORPHA:85445
Immunodeficiency 69
Diarrhea, Failure to thrive OMIM:618963
19Q13.11 Microdeletion Syndrome
Cachexia, Hypospadias, Failure to thrive, Feeding difficulties ORPHA:217346
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia, Weight loss ORPHA:1332
Foodborne Botulism
Diarrhea, Xerostomia, Urinary retention, Nausea and vomiting, Constipation, Abdominal pain, Dysph... ORPHA:228371
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Kaposi Sarcoma
Diarrhea, Abnormality of the gastrointestinal tract, Weight loss ORPHA:33276
Immunodeficiency 46
Chronic diarrhea, Failure to thrive OMIM:616740
Blue Diaper Syndrome
Increased body weight, Nephrocalcinosis, Diarrhea, Blue urine ORPHA:94086
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Diarrhea, Renal insufficiency, Hematuria, Proteinuria, Abdominal pain ORPHA:54057
Colonic Atresia
Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis ORPHA:1198
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Secretory diarrhea, Intestinal malrotation, Abdominal distention, Ureteral duplication, Anal atre... OMIM:270420
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Failure to thrive, Feeding difficulties OMIM:177735
Aredyld Syndrome
Abnormality of the ureter, Cachexia ORPHA:1133
Hereditary Folate Malabsorption
Diarrhea, Gastroesophageal reflux, Failure to thrive, Nausea and vomiting, Anorexia, Glossitis ORPHA:90045
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic di... OMIM:613489
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive, Ethylmalonic aciduria ORPHA:51188
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Rhabdoid Tumor
Nausea and vomiting, Hematuria, Neoplasm of the liver, Weight loss, Abdominal pain, Poor appetite ORPHA:69077
Pfapa Syndrome
Abdominal pain, Malabsorption, Nausea and vomiting, Weight loss ORPHA:42642
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Syndromic Diarrhea
Renal hypoplasia, Intractable diarrhea, Small for gestational age, Villous atrophy, Hepatoblastom... ORPHA:84064
Huntington Disease-Like 2
Weight loss ORPHA:98934
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Glandular hypospadias, Gastritis, Nephrotic syndrome, Hypospadias ORPHA:2575
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Decreased body weight, High palate OMIM:607906
Inhalational Botulism
Diarrhea, Xerostomia, Urinary retention, Nausea and vomiting, Constipation ORPHA:254504
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Diarrhea, Prolinuria, Hydroxyprolinuria, Renal... ORPHA:79101
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Vomiting, Diarrhea, Methylmalonic aciduria, Failure to thrive, Feeding difficulties OMIM:250940
Congenital Toxoplasmosis
Failure to thrive in infancy, Diarrhea ORPHA:858
Immunodeficiency 82 With Systemic Inflammation
Intractable diarrhea, Diarrhea, Anoperineal fistula, Vomiting, Villous atrophy, Bowel irritabilit... OMIM:619381
Microsporidiosis
Nephritis, Vomiting, Urethritis, Intermittent diarrhea, Peritonitis, Abdominal pain, Weight loss,... ORPHA:2552
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Hepatic failure, Diarrhea, Failure to thrive, Acholic stools, Steatorrhea OMIM:613812
Ileal Neuroendocrine Tumor
Hepatic failure, Intestinal fistula, Gastrointestinal obstruction, Zollinger-Ellison syndrome, Hy... ORPHA:100078
Celiac Disease, Susceptibility To, 1
Vomiting, Diarrhea, Failure to thrive, Recurrent aphthous stomatitis, Abdominal pain, Weight loss... OMIM:212750
Meconium Ileus
Microcolon, Chronic diarrhea, Meconium ileus OMIM:614665
Oculopharyngodistal Myopathy
High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Impaired oropharyngeal ... ORPHA:98897
Immunodeficiency 48
Chronic diarrhea, Failure to thrive OMIM:269840
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Anorexia ORPHA:86893
Neuroendocrine Neoplasm Of Appendix
Abdominal colic, Protracted diarrhea, Anorexia, Hypoactive bowel sounds, Nausea and vomiting, Mec... ORPHA:100079
Neuroblastoma, Susceptibility To, 1
Elevated urinary dopamine level, Diarrhea, Elevated urinary homovanillic acid, Failure to thrive,... OMIM:256700
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Feeding difficulties OMIM:618154
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Immunodeficiency 27A
Diarrhea, Weight loss, Anorexia OMIM:209950
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Elevated urinary 3-hydroxybutyric acid, Ketonuria, Vomiting, Dicarboxylic aciduria, Ste... OMIM:605911
Lissencephaly, X-Linked, 2
Micropenis, High palate, Diarrhea, Feeding difficulties in infancy OMIM:300215
Typhoid
Abdominal pain, Gastrointestinal hemorrhage, Diarrhea, Constipation ORPHA:99745
Complement Component 4B Deficiency
Chronic diarrhea OMIM:614379
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Diarrhea, Vomiting, Anuria, Bloody diarrhea, Rectal prolapse, Peritonitis, H... ORPHA:90038
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Nasogastric tube feeding, Dysphagia, Feeding difficulties, Poor suck ORPHA:163961
Fatal Familial Insomnia
Constipation, Dysphagia, Urinary retention, Weight loss OMIM:600072
Ppoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ... ORPHA:97278
Shigellosis
Acute kidney injury, Vomiting, Hepatic failure, Tenesmus, Ulcerative colitis, Urethritis, Bloody ... ORPHA:810
Nephroblastoma
Hematuria, Abdominal pain, Neoplasm of the liver, Weight loss ORPHA:654
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Malabsorption, Weight loss, Anor... ORPHA:98850
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Vomiting, Diarrhea, Abdominal pain, Melena, Nausea, Dysphagia, Poor ... ORPHA:319218
Wild Type Attr Amyloidosis
Nephropathy, Intermittent diarrhea, Renal insufficiency, Proteinuria, Gastrointestinal dysmotilit... ORPHA:330001
Paroxysmal Nocturnal Hemoglobinuria 2
Abdominal pain, Diarrhea, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Vomiting, Proximal tubulopathy, Failure to thrive, Polyuria OMIM:560000
Isaacs Syndrome
Weight loss ORPHA:84142
Bone Dysplasia, Lethal Holmgren Type
Diarrhea, Nausea and vomiting, Failure to thrive, Weight loss ORPHA:1842
Encephalopathy, Ethylmalonic
Feeding difficulties, Chronic diarrhea, Failure to thrive, Ethylmalonic aciduria OMIM:602473
Immunodeficiency 14B, Autosomal Recessive
Colitis, Inflammation of the large intestine, Chronic diarrhea OMIM:619281
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Diarrhea, Failure to thrive ORPHA:277
Trichohepatoenteric Syndrome 1
Bifid uvula, Galactosuria, Intractable diarrhea, Hepatic failure, Failure to thrive, Villous atro... OMIM:222470
Intellectual Developmental Disorder, Autosomal Dominant 51
Failure to thrive, Chronic constipation, Chronic diarrhea, Feeding difficulties, Poor suck OMIM:617788
Alg8-Cdg
Diarrhea, Vomiting, Failure to thrive, Abnormality of the gastrointestinal tract, Macroglossia, S... ORPHA:79325
Cholesteryl Ester Storage Disease
Hepatic failure, Vomiting, Diarrhea, Failure to thrive, Acute hepatic failure, Protuberant abdome... OMIM:278000
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Weight loss, Abdominal distention, S... ORPHA:309031
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... ORPHA:343
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Weight loss ORPHA:411703
Liposarcoma
Abdominal pain, Weight loss, Nausea and vomiting ORPHA:69078
Spontaneous Periodic Hypothermia
Diarrhea, Nausea and vomiting ORPHA:29822
X-Linked Intellectual Disability, Cabezas Type
High palate, Cachexia, Obesity, Hypoplasia of penis ORPHA:85293
Trigonocephaly 1
High, narrow palate, Long penis, Meckel diverticulum OMIM:190440
Isolated Agammaglobulinemia
Diarrhea, Malabsorption, Failure to thrive ORPHA:229717
Nijmegen Breakage Syndrome
Anal stenosis, Cachexia, Anal atresia, Anorectal anomaly, Chronic diarrhea, Pollakisuria, Cleft p... ORPHA:647
Immunodeficiency 17
Anoperineal fistula, Failure to thrive, Recurrent gastroenteritis, Abnormal intestine morphology,... OMIM:615607
Systemic Sclerosis
Chronic kidney disease, Barrett esophagus, Intestinal bleeding, Abnormal large intestine morpholo... ORPHA:90291
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,... OMIM:147060
Necrotizing Enterocolitis
Vomiting, Diarrhea, Small for gestational age, Hypoactive bowel sounds, Peritonitis, Abdominal ri... ORPHA:391673
Cutaneous Mastocytoma
Nausea, Vomiting, Diarrhea, Abdominal pain ORPHA:79455
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Intestinal polyposis, Cachexia, Narrow palate, Hamartomatous... ORPHA:109
Angioedema, Hereditary, 1
Intestinal edema, Vomiting, Diarrhea, Abdominal pain OMIM:106100
Cog4-Cdg
Failure to thrive in infancy, Recurrent infection of the gastrointestinal tract, Fatal liver fail... ORPHA:263501
American Trypanosomiasis
Diarrhea, Aganglionic megacolon, Achalasia, Abdominal pain, Abnormal large intestine physiology ORPHA:3386
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Failure to thrive OMIM:618495
Systemic Capillary Leak Syndrome
Diarrhea, Oliguria, Renal insufficiency, Weight loss, Abdominal pain ORPHA:188
Autosomal Agammaglobulinemia
High palate, Diarrhea, Malabsorption, Failure to thrive ORPHA:33110
Familial Glucocorticoid Deficiency
Diarrhea, Vomiting, Hypernatriuria, Failure to thrive, Azoospermia, Episodic abdominal pain, Cons... ORPHA:361
Parenteral Nutrition-Associated Cholestasis
Abdominal pain, Hepatic failure, Villous atrophy, Small for gestational age ORPHA:567983
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Small for gestational age, Secretory diarrhea, Feeding diffi... OMIM:619573
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea, Failure to thrive, Malabsorption, Protruding tongue, Macroglossia OMIM:242860
Adiposis Dolorosa
Obesity, Diarrhea, Xerostomia, Constipation ORPHA:36397
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea OMIM:619446
Hereditary Angioedema Type 1
Diarrhea, Vomiting, Intestinal edema, Nausea, Abdominal pain, Abnormal soft palate morphology, Dy... ORPHA:100050
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Diarrhea, Increased urinary cortisol lev... ORPHA:913
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Chronic diarrhea OMIM:619481
Carnitine Deficiency, Systemic Primary
Vomiting, Diarrhea, Failure to thrive, Dicarboxylic aciduria OMIM:212140
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Mednik Syndrome
Microcolon, Diarrhea, Volvulus, Jejunal atresia OMIM:609313
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease OMIM:616100
Caspase 8 Deficiency
Chronic diarrhea, Failure to thrive OMIM:607271
Somatostatinoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Nausea and vomiting, Intestinal obst... ORPHA:97283
Snakebite Envenomation
Acute kidney injury, Diarrhea, Vomiting, Neuromuscular dysphagia, Pseudobulbar paralysis ORPHA:449285
Late-Onset Isolated Acth Deficiency
Diarrhea, Failure to thrive, Nausea and vomiting, Abdominal pain, Constipation, Weight loss, Anor... ORPHA:199299
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia OMIM:226730
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Bloody diarrhea, Abnormality of the ureter, Mult... OMIM:175200
Grfoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ... ORPHA:97261
Congenital Myopathy 20
High palate, Chronic diarrhea, Failure to thrive OMIM:620310
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abdominal pain, Diarrhea, Weight loss ORPHA:54251
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hepatic failure, Fat malabsorption, Failure to thrive OMIM:214950
Igg4-Related Aortitis
Hydronephrosis, Abdominal pain, Weight loss, Intestinal obstruction ORPHA:449400
Martinez-Frias Syndrome
Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Hyposp... OMIM:601346
Immunodeficiency 56
Hepatic failure, Recurrent infection of the gastrointestinal tract, Chronic diarrhea, Failure to ... OMIM:615207
Cog8-Cdg
Protein-losing enteropathy, Failure to thrive ORPHA:95428
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Colonic diverticula, Diarrhea, Failure to thrive in infancy, Aganglionic meg... OMIM:162300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Anorexia ORPHA:49827
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the colon, Stomach cancer, Nausea and vomiting, Malabsor... ORPHA:440437
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Functional abnormality of the bladder, Villous atrophy, Renal artery stenosis, Renovasc... ORPHA:391487
Trisomy 18
Hydronephrosis, Cachexia, Anal atresia, Esophageal atresia, Narrow palate, Cleft palate ORPHA:3380
Immunodeficiency 60 And Autoimmunity
Colitis, Chronic diarrhea, Ulcerative colitis, Crohn's disease OMIM:618394
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Diarrhea, Failure to thrive secondary to recurrent infections, Protracted diarrhea ORPHA:169160
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Methylmalonic aciduria, Failure to thrive, Stage 5 chronic kidney disease, Tu... OMIM:251000
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Gastrointestinal infarctions, Nausea and vomitin... ORPHA:679
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Abnormality of the urethra, Dysuria, Acute hepatic failure... ORPHA:36426
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Vomiting, Diarrhea, Malnutrition, Abdominal pain ORPHA:79456
Immunodeficiency 115 With Autoinflammation
Intermittent diarrhea, Intestinal lymphangiectasia OMIM:620632
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Diarrhea OMIM:614069
Immunodeficiency 7
Diarrhea, Failure to thrive OMIM:615387
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Abdominal distention, Episodic abdominal pain, Neoplasm of the liver, Weight loss, Anor... ORPHA:100085
Immunodeficiency 40
Focal active colitis, Intermittent diarrhea, Chronic diarrhea, Rectal fistula OMIM:616433
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Cachexia, Anorexia ORPHA:1969
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Episodic abdom... ORPHA:94080
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Diarrhea, Vomiting, Gastroesophageal reflux, Feeding difficulties in infancy, Constipation, Glome... OMIM:223900
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Sepsis In Premature Infants
Oliguria, Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointes... ORPHA:90051
Severe Combined Immunodeficiency, X-Linked
Chronic diarrhea, Failure to thrive OMIM:300400
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Chronic constipation, Abdominal pain, Chronic diarrhea OMIM:142680
Glucagonoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Abnormal gastrointestinal motility, ... ORPHA:97280
Cold Agglutinin Disease
Diarrhea, Nausea and vomiting, Abnormal urinary color ORPHA:56425
Xfe Progeroid Syndrome
Proteinuria, Cachexia, Renal insufficiency, Failure to thrive OMIM:610965
Acute Intermittent Porphyria
Diarrhea, Urinary retention, Pseudobulbar paralysis, Dark urine, Ileus, Increased urinary porphob... ORPHA:79276
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Dysphagia, Weight loss ORPHA:142
Lassa Fever
Diarrhea, Oliguria, Nausea and vomiting, Abdominal pain, Dysphagia ORPHA:99824
Imerslund-Gräsbeck Syndrome
Vomiting, Failure to thrive, Proteinuria, Constipation, Weight loss, Glossitis, Poor appetite ORPHA:35858
Dengue Fever
Abdominal pain, Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting ORPHA:99828
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea, Failure to thrive OMIM:619484
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea OMIM:612692
Juvenile Polyposis Syndrome
Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Diarrhea, Failu... ORPHA:2929
Methanol Poisoning
Abdominal pain, Vomiting, Diarrhea ORPHA:31825
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Duodenal stenosis ORPHA:2547
Carcinoid Syndrome
Lack of bowel sounds, Protracted diarrhea, Nausea and vomiting, Episodic abdominal pain, Intestin... ORPHA:100093
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Diarrhea, Vomiting, Glycosuria, Large for gestational age, Proteinuria, Increased body weight, Re... ORPHA:263455
Familial Hypoaldosteronism
Diarrhea, Failure to thrive, Nausea and vomiting, Decreased urinary potassium, Proximal renal tub... ORPHA:427
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Chronic diarrhea OMIM:618805
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
X-Linked Agammaglobulinemia
Failure to thrive, Malabsorption, Chronic diarrhea, Weight loss, Glossoptosis ORPHA:47
Polyarteritis Nodosa
Abdominal pain, Abnormality of the gastrointestinal tract, Weight loss ORPHA:767
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Vomiting, Failure to thrive, Renal tubular acidosis, Increased body weight, Nausea, Myo... ORPHA:264580
Alg9-Cdg
Bifid uvula, Gastroesophageal reflux, Diarrhea, Vomiting, Villous atrophy, Hydronephrosis, Ureter... ORPHA:79328
Cystic Fibrosis
Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Ileus, Rectal prolapse, Hypercalc... OMIM:219700
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Macroglossia, Chronic diarrhea OMIM:618523
Boutonneuse Fever
Nausea, Abdominal pain, Diarrhea, Renal insufficiency ORPHA:83313
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Diarrhea, Nausea and vomiting, Abnormal urinary color ORPHA:90035
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Poor appetite ORPHA:312
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Chronic diarrhea, Failure to thrive, Feeding difficulties in... ORPHA:98813
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Weight loss, Small for gestational age ORPHA:424
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Malnutrition, Decreased body weight, Neurogenic bladder, Fat malabsorption ORPHA:96180
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Inflammation of the large intestine, Diarrhea, Lymphocytic infiltration of th... ORPHA:436159
Acrodermatitis Enteropathica
Failure to thrive, Furrowed tongue, Malabsorption, Weight loss, Anorexia, Glossitis, Chronic diar... ORPHA:37
Classic Galactosemia
Vomiting, Diarrhea, Hepatic failure, Feeding difficulties ORPHA:79239
Pediatric Systemic Lupus Erythematosus
Nephritis, Diarrhea, Vomiting, Dark urine, Renal insufficiency, Hematuria, Proteinuria, Abdominal... ORPHA:93552
Immunodeficiency, Common Variable, 2
Diarrhea OMIM:240500
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Failure to thrive, Feeding difficulties, Pyloric stenosis OMIM:616395
Malakoplakia
Diarrhea, Urinary bladder inflammation, Neoplasm of the colon, Urinary hesitancy, Hematuria, Prot... ORPHA:556
Hereditary Fructose Intolerance
Chronic kidney disease, Vomiting, Diarrhea, Renal insufficiency, Abdominal pain, Constipation, Ch... ORPHA:469
Castleman Disease
Ureteral obstruction, Renal insufficiency, Nausea and vomiting, Intestinal obstruction, Hematuria... ORPHA:160
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting, Abdominal colic,... ORPHA:90363
Huntington Disease-Like 2
Weight loss OMIM:606438
Graft Versus Host Disease
Vomiting, Diarrhea, Failure to thrive, Recurrent gastroenteritis, Abdominal pain, Gastrointestina... ORPHA:39812
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Urethral stricture, Colitis, Failure to thrive in infancy, Chronic diarrhea OMIM:301220
Shwachman-Diamond Syndrome 2
Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Steatorrhea, High palate OMIM:617941
Caroli Disease
Vomiting, Abdominal pain, Abdominal rigidity, Weight loss, Cholangiocarcinoma, Anorexia, Nausea, ... ORPHA:53035
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Failure to ... OMIM:614576
B4Galt1-Cdg
Diarrhea, Small for gestational age ORPHA:79332
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Weight loss, Anorexia, Nausea ORPHA:100086
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Abdominal pain, Diarrhea, Chronic diarrhea OMIM:617099
Metachromatic Leukodystrophy
Abnormal stomach morphology, Gastrostomy tube feeding in infancy, Abnormal duodenum morphology, U... ORPHA:512
Schwartz-Jampel Syndrome
Abnormality of the ureter, Nephrolithiasis, Decreased body weight, Feeding difficulties in infanc... ORPHA:800
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Acute hepatic failure, Renal insufficiency, Membranoproliferative glomerulonep... OMIM:619644
Fabry Disease
Diarrhea, Lipiduria, Vomiting, Tenesmus, Renal insufficiency, Proteinuria, Abdominal pain, Nausea... OMIM:301500
Dpm1-Cdg
High, narrow palate, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy ORPHA:79322
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Oliguria, Diarrhea, Gastrointestinal infarctions, Renal insufficienc... ORPHA:727
Immunodeficiency, Common Variable, 7
Chronic diarrhea OMIM:614699
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Failure to thrive, Dark urine, Renal cyst, Steatorrhea, Fat malabsorption ORPHA:79303
Polymyositis
Gastrointestinal hemorrhage, Gastroesophageal reflux, Constipation, Weight loss, Anorexia, Abdomi... ORPHA:732
Klatskin Tumor
Abdominal pain, Weight loss, Cholangiocarcinoma ORPHA:99978
Developmental And Epileptic Encephalopathy 50
Diarrhea, Failure to thrive, Oroticaciduria, Renal tubular acidosis, Dysphagia OMIM:616457
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Diarrhea, Vomiting, Failure to thrive, Low... ORPHA:18
Classic Hodgkin Lymphoma
Poor appetite, Weight loss, Anorexia ORPHA:391
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Diarrhea, Anuria, Vomiting, Bloody diarrhea, Secretory diarrhea, G... ORPHA:544482
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Diarrhea OMIM:150550
Houge-Janssens Syndrome 1
Chronic diarrhea, Pyloric stenosis OMIM:616355
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Polyuria, Feeding difficulties OMIM:618183
Complement Component 5 Deficiency
Intractable diarrhea OMIM:609536
Turcot Syndrome With Polyposis
Hematochezia, Diarrhea, Vomiting, Adenomatous colonic polyposis, Intestinal polyposis, Hepatoblas... ORPHA:99818
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Infantile Systemic Hyalinosis
Failure to thrive, Malabsorption, Abnormality of the gastrointestinal tract, Steatorrhea, Chronic... ORPHA:2176
Oculoskeletodental Syndrome
Protein-losing enteropathy, Hypercalciuria, Mucopolysacchariduria, Macroglossia, Small for gestat... OMIM:618440
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Abnormality of the urethra, Dysuria, Acute hepatic failure, Malabsor... ORPHA:537
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypospadias ORPHA:139466
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Failure to thrive, Abdominal distention, Elevated stool chloride content OMIM:214700
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Diarrhea, Vomiting, Decreased urine output, Nausea, Poor appetite ORPHA:542323
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Diarrhea, Vomiting, Renal tubular acidosis, Increased body weight, Nausea, Myoglobinuria, Hepatoc... ORPHA:79240
Autosomal Dominant Severe Congenital Neutropenia
Diarrhea, Abdominal pain, Recurrent aphthous stomatitis, Recurrent infection of the gastrointesti... ORPHA:486
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Feeding difficulties in infancy, Vomiting, Weight loss ORPHA:171876
Specific Granule Deficiency 2
Intractable diarrhea, Failure to thrive OMIM:617475
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Horseshoe kidney, Vesicoure... OMIM:115470
Huntington Disease
Weight loss, Oral-pharyngeal dysphagia, Decreased body mass index ORPHA:399
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Recurrent infection of the gastrointestinal tract, Failure to thrive, Protracted diarrhea ORPHA:572
Relapsing Fever
Acute kidney injury, Vomiting, Diarrhea, Hematuria, Abdominal pain ORPHA:91547
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Malnutrition, Weight loss, Odynophagia, Feeding difficulties ORPHA:221098
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
19P13.13 Microdeletion Syndrome
Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Abdominal pain, Macrogl... ORPHA:357001
Mitochondrial Dna Depletion Syndrome 11
Nausea, Chronic diarrhea OMIM:615084
Agammaglobulinemia 8B, Autosomal Recessive
Chronic diarrhea, Failure to thrive OMIM:619824
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Oral leukoplakia, Urethral stricture, Chronic diarrhea, Esophageal stricture OMIM:613989
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Diarrhea, Oral leukoplakia, Acute hepatic failure, Gastrointestina... ORPHA:342
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine, Diarrhea, Dysphagia OMIM:252930
Immunodeficiency, Common Variable, 1
Diarrhea OMIM:607594
Familial Mediterranean Fever
Diarrhea, Vomiting, Stage 5 chronic kidney disease, Chronic constipation, Crohn's disease, Episod... OMIM:249100
Neuropathy, Hereditary Sensory And Autonomic, Type V
Urinary incontinence, Diarrhea, Constipation OMIM:608654
Beta-Ketothiolase Deficiency
Vomiting, Diarrhea, Ketonuria, Weight loss, Anorexia ORPHA:134
Zygomycosis
Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Nephritis, Diarrhea, Vomiting, Rena... ORPHA:73263
Bronchial Neuroendocrine Tumor
Hepatic failure, Protracted diarrhea, Bowel urgency, Weight loss, Anorexia, Poor appetite ORPHA:97287
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Vomiting, Diarrhea, Failure to thrive, Dicarboxylic aciduria, Acute hepatic failure, Myoglobinuri... ORPHA:71212
Takayasu Arteritis
Gastrointestinal infarctions, Weight loss, Anorexia ORPHA:3287
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Gastroesophageal reflux, Failure to thrive, Chronic constipation, Feeding difficulties in infancy... ORPHA:500055
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Hydronephrosis, Abdominal distention, Micropenis, Hi... OMIM:235255
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Renal insufficiency, Gastro... ORPHA:191
Eosinophilic Granulomatosis With Polyangiitis
Gastroesophageal reflux, Malabsorption, Renal insufficiency, Nausea and vomiting, Intestinal obst... ORPHA:183
Holocarboxylase Synthetase Deficiency
Weight loss, Nausea and vomiting, Organic aciduria, Anorexia ORPHA:79242
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Dysphagia ORPHA:216866
Cholera
Acute kidney injury, Diarrhea, Vomiting, Abdominal pain, Decreased urine output, Achlorhydria, Ab... ORPHA:173
Focal Myositis
Weight loss ORPHA:48918
Citrullinemia Type Ii
Vomiting, Diarrhea, Decreased body mass index, Enuresis, Hepatocellular carcinoma ORPHA:247585
Solitary Fibrous Tumor
Neoplasm of the liver, Constipation, Weight loss, Urinary retention ORPHA:2126
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Failure to thrive, Constipation, High palate, Intermittent diarrhea, Feeding difficulties OMIM:618050
Combined Immunodeficiency Due To Zap70 Deficiency
Nephrotic syndrome, Failure to thrive, Recurrent infection of the gastrointestinal tract, Colitis... ORPHA:911
Congenital Disorder Of Glycosylation, Type Im
Vomiting, Diarrhea, Failure to thrive OMIM:610768
Alternating Hemiplegia Of Childhood
Diarrhea, Vomiting, Abdominal distention, Oral-pharyngeal dysphagia, Failure to thrive, Gastroint... ORPHA:2131
Juvenile Huntington Disease
Weight loss ORPHA:248111
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Diarrhea, Abdominal pain, Weight loss, Nausea ORPHA:98849
Immunodeficiency 97 With Autoinflammation
Diarrhea, Colitis, Abdominal pain, Enterocolitis OMIM:619802
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Weight loss, Poor appetite ORPHA:324964
Tarp Syndrome
Hepatic failure, Meckel diverticulum, Failure to thrive, Horseshoe kidney, Hydronephrosis, High p... OMIM:311900
Addison Disease
Renal salt wasting, Diarrhea, Failure to thrive, Nausea and vomiting, Decreased urinary potassium... ORPHA:85138
Mucopolysaccharidosis, Type Ii
Diarrhea, Intestinal pseudo-obstruction, Heparan sulfate excretion in urine, Urinary glycosaminog... OMIM:309900
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Vomiting, Renal insufficiency, Hydronephrosis, Feeding difficulties in infancy, Long-ch... OMIM:608836
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Renal insufficiency, Nausea and vomiting, Hematuria, Proteinuria, Abdominal pain ORPHA:36412
Isolated Succinate-Coq Reductase Deficiency
Feeding difficulties in infancy, Weight loss, Vesicoureteral reflux ORPHA:3208
Imerslund-Grasbeck Syndrome 2
Proteinuria, Moderate albuminuria, Diarrhea, Renal insufficiency OMIM:618882
Middle Ear Neuroendocrine Tumor
Chronic diarrhea ORPHA:100084
Mirage Syndrome
Gastroesophageal reflux, Microphallus, Decreased body weight, Achalasia, Chronic diarrhea, Hyposp... OMIM:617053
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Follicular Lymphoma
Weight loss ORPHA:545
Al Amyloidosis
Gastrointestinal hemorrhage, Nephrotic syndrome, Xerostomia, Gastroparesis, Renal insufficiency, ... ORPHA:85443
Oromandibular Dystonia
Weight loss, Dysphagia ORPHA:93958
Tropical Pancreatitis
Nausea, Vomiting, Weight loss, Malnutrition ORPHA:103918
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Cachexia, Esophageal varix, Gastric ulcer, Feeding difficulties ORPHA:2072
Young-Onset Parkinson Disease
Gastroparesis, Diarrhea, Nausea, Constipation ORPHA:2828
Acquired Central Diabetes Insipidus
Weight loss, Pollakisuria ORPHA:95626
Matthew-Wood Syndrome
Renal hypoplasia, Failure to thrive, Duodenal stenosis, Horseshoe kidney, Vesicoureteral reflux ORPHA:2470
Mast Cell Sarcoma
Weight loss ORPHA:66661
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs... ORPHA:49041
Immunodeficiency 22
Diarrhea, Failure to thrive, Protracted diarrhea OMIM:615758
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, E... ORPHA:276621
Transcobalamin Ii Deficiency
Vomiting, Diarrhea, Methylmalonic aciduria, Failure to thrive OMIM:275350
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Weight loss, Abdomi... ORPHA:29207
Carney Triad
Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Gastrointestinal stroma tumor, Anorex... ORPHA:139411
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Feeding difficulties OMIM:255120
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Failure to thrive, Poor appetite OMIM:201100
Acute Adrenal Insufficiency
Diarrhea, Failure to thrive, Renal insufficiency, Nausea and vomiting, Decreased urinary potassiu... ORPHA:95409
Parathyroid Carcinoma
Peptic ulcer, Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nausea and vomiting, Nephro... ORPHA:143
Legionnaires Disease
Diarrhea, Renal insufficiency, Nausea and vomiting, Hematuria, Proteinuria, Anorexia, Abdominal pain ORPHA:549
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Failure to thrive, Rectal abscess OMIM:601495
Mevalonic Aciduria
Vomiting, Diarrhea, Failure to thrive, Failure to thrive in infancy, Elevated urine mevalonic aci... OMIM:610377
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Jejunoileal ulceration, Intestinal malrotation, Intestinal atresia, Gastroi... ORPHA:436252
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Diarrhea OMIM:252920
Amyloidosis, Hereditary Systemic 1
Urinary incontinence, Diarrhea, Episodic vomiting, Constipation OMIM:105210
Melas
Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Diarrhea, Intestinal pseud... ORPHA:550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Chronic diarrhea, Failure to thrive, Intestinal obstruction OMIM:600802
Immunodeficiency 58
Failure to thrive, Recurrent aphthous stomatitis, Esophagitis, Helicobacter pylori infection, Dys... OMIM:618131
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Vomiting, Diarrhea, Hematuria, Nausea ORPHA:324636
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Nephrocalcinosis, Diarrhea, Malabsorption OMIM:240300
Perry Syndrome
Weight loss ORPHA:178509
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Diarrhea, Vomiting, Failure to thrive, Malnutrition, Oroticaciduri... OMIM:222700
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine, Diarrhea OMIM:252900
Seckel Syndrome
Cachexia ORPHA:808
Aromatic L-Amino Acid Decarboxylase Deficiency
Diarrhea, Feeding difficulties in infancy, Gastroesophageal reflux, Constipation OMIM:608643
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Vomiting, Diarrhea ORPHA:3240
Chronic Graft Versus Host Disease
Gastroesophageal reflux, Xerostomia, Diarrhea, Urinary bladder inflammation, Abnormal esophagus p... ORPHA:99921
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea OMIM:619849
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Hydronephrosis, Abdominal distention, Micropenis, Hi... ORPHA:1655
Immunodeficiency 112
Chronic diarrhea OMIM:620449
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Failure to thrive, Vesicoureteral reflux, Abdo... OMIM:615895
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Failure to thrive, Oroticaciduria, Chronic diarrhea, Dysphagia, Feeding difficulties OMIM:620358
Lynch Syndrome
Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Salivary gland neoplasm, Nausea... ORPHA:144
Stickler Syndrome
Bifid uvula, Gastroesophageal reflux, Slender build, Short hard palate, Feeding difficulties in i... ORPHA:828
Immunodeficiency 9
Recurrent aphthous stomatitis, Chronic diarrhea, Stomatitis, Failure to thrive OMIM:612782
Lujo Hemorrhagic Fever
Oliguria, Diarrhea, Vomiting, Renal insufficiency, Dysphagia, Nausea, Abdominal cramps, Fulminant... ORPHA:319213
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Diarrhea, Ketonuria, Weight loss, Reye syndrome-like episodes, Episodi... ORPHA:20
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Diarrhea, Urinary retention, Failure to thrive in infancy, Recurrent gastroenteritis, Chronic hep... ORPHA:79124
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea, Malabsorption OMIM:602347
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Failure to thrive in infancy, Gastrostomy tube feeding in infancy, Feedi... OMIM:613385
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Vomiting, Gastroesophageal reflux, Failure to thrive, Abdominal distention, Chronic diarrhea OMIM:620233
Pediatric-Onset Graves Disease
Diarrhea, Nausea and vomiting, Failure to thrive ORPHA:525731
Congenital Alveolar Capillary Dysplasia
Volvulus, Duodenal stenosis, Intestinal malrotation, Hydronephrosis, Aganglionic megacolon, Trach... ORPHA:210122
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Intestinal lymphangiectasia, Horseshoe kidney, Vesicoureteral reflux,... OMIM:235510
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Failure to thrive, Colonic eosinophilia, Blood... OMIM:617718
Avian Influenza
Vomiting, Acute kidney injury, Diarrhea, Abdominal pain ORPHA:454836
Multiple Endocrine Neoplasia, Type I
Diarrhea, Peptic ulcer, Esophagitis, Zollinger-Ellison syndrome OMIM:131100
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Meckel diverticulum, Abnormal gastrointestinal tract morphology ORPHA:2847
Camurati-Engelmann Disease
Urinary retention, Slender build, Feeding difficulties in infancy, Cachexia, Anorexia ORPHA:1328
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Diarrhea, Anuria, Vomiting, Decreased glom... ORPHA:340
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Diarrhea, Vomiting, Glycosuria, Hypernatriuria, Failure to thriv... ORPHA:47159
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Nephrocalcinosis, Diarrhea, Failure to thrive, Stage 5 chron... ORPHA:79259
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Diarrhea, Ketonuria, Elevated urinary 3-methylcroto... OMIM:246450
Immunodeficiency 114, Folate-Responsive
Chronic diarrhea OMIM:620603
Nodular Non-Suppurative Panniculitis
Abdominal pain, Weight loss, Nausea and vomiting ORPHA:33577
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Anoperineal fistula, Failure to thrive, Pancolitis, Eosinophilic infiltration of the esophagus, P... OMIM:618213
Mosaic Trisomy 16
Meckel diverticulum, Anteriorly placed anus, Horseshoe kidney, Gastrostomy tube feeding in infanc... ORPHA:1708
Pemphigus Vulgaris
Feeding difficulties in infancy, Weight loss, Feeding difficulties ORPHA:704
Thymoma
Glomerulonephritis, Weight loss, Neoplasm of the gastrointestinal tract, Ulcerative colitis ORPHA:99867
Omenn Syndrome
Nephrotic syndrome, Chronic diarrhea, Failure to thrive ORPHA:39041
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Weight loss ORPHA:2902
Leishmaniasis
Weight loss, Anorexia ORPHA:507
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematochezia, Diarrhea, Weight loss, Hematemesis, Nephrotic syndrome, Bloody ... OMIM:615846
Renal Nutcracker Syndrome
Renal artery stenosis, Hematuria, Proteinuria, Abdominal pain, Weight loss, Nausea, Microscopic h... ORPHA:71273
Fructose-1,6-Bisphosphatase Deficiency
Vomiting, Diarrhea, Reye syndrome-like episodes, Increased urinary glycerol ORPHA:348
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Fat malabsorption ORPHA:79302
Multiple Endocrine Neoplasia Type 1
Peptic ulcer, Gastroesophageal reflux, Diarrhea, Vomiting, Anorexia, Zollinger-Ellison syndrome, ... ORPHA:652
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Functional abnormality of the bladder, Horseshoe kidney, Nephrolithia... ORPHA:2953
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Serotonin Syndrome
Nausea, Acute kidney injury, Diarrhea, Hepatic failure ORPHA:43116
Immunodeficiency, Common Variable, 14
Chronic diarrhea OMIM:617765
Vipoma
Secretory diarrhea, Abnormal gastrointestinal motility, Malabsorption, Nausea and vomiting, Episo... ORPHA:97282
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Abnormal gastrointestinal tract morphology, Hematemesi... ORPHA:464321
Malt Lymphoma
Abdominal pain, Constipation, Nausea and vomiting, Weight loss ORPHA:52417
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vomiting, Diarrhea, Intestinal obstruction, Peritonitis, Constipation, Abdominal pain ORPHA:32960
Isolated Biliary Atresia
Failure to thrive, Decreased liver function, Severe failure to thrive, Dark yellow urine, Acholic... ORPHA:30391
Biotinidase Deficiency
Vomiting, Diarrhea, Organic aciduria, Feeding difficulties in infancy OMIM:253260
Gm1 Gangliosidosis
Gastroesophageal reflux, Failure to thrive, Gastrostomy tube feeding in infancy, Weight loss, Mac... ORPHA:354
Neuroblastoma
Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated urinary cate... ORPHA:635
Bartter Syndrome, Type 1, Antenatal
Nephrocalcinosis, Hyperchloriduria, Diarrhea, Vomiting, Small for gestational age, Failure to thr... OMIM:601678
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Nausea and vomiting ORPHA:3226
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Vomiting, Diarrhea, Failure to thrive, Acute hepatic failure, Reye syndrome-like... OMIM:256810
Multiple Endocrine Neoplasia Type 2
Diarrhea, Elevated urinary norepinephrine level, Abnormal tongue morphology, Ganglioneuromatosis,... ORPHA:653
Hereditary Late-Onset Parkinson Disease
Weight loss, Dysphagia, Spastic/hyperactive bladder, Chronic constipation ORPHA:411602
Trichothiodystrophy 1, Photosensitive
Chronic diarrhea, Malabsorption, Intestinal obstruction, Small for gestational age OMIM:601675
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Diarrhea, Malabsorption, Renal insufficiency, Anorexia ORPHA:33226
Acute Radiation Syndrome
Vomiting, Diarrhea ORPHA:454831
T-Cell Immunodeficiency With Thymic Aplasia
Diarrhea, Recurrent infection of the gastrointestinal tract, Malabsorption, Failure to thrive ORPHA:83471
Simple Cryoglobulinemia
Nephritis, Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Abdominal pain, Abnorma... ORPHA:91139
Rat-Bite Fever
Vomiting, Diarrhea, Weight loss, Parotitis ORPHA:31205
Dominant Beta-Thalassemia
Failure to thrive in infancy, Diarrhea, Feeding difficulties, Hepatocellular carcinoma ORPHA:231226
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, E... ORPHA:29072
Hyper-Igd Syndrome
Vomiting, Diarrhea, Elevated urine mevalonic acid level, Renal angiomyolipoma, Abdominal pain, Ch... OMIM:260920
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Failure to thrive ORPHA:276
Huntington Disease-Like 1
Weight loss ORPHA:157941
Omenn Syndrome
Diarrhea, Failure to thrive OMIM:603554
Bacterial Toxic-Shock Syndrome
Vomiting, Diarrhea, Renal insufficiency, Peritonitis, Abdominal pain, Glomerulonephritis, Nausea ORPHA:36234
Wilson Disease
Acute hepatic failure, Increased body weight, Weight loss, Failure to thrive ORPHA:905
Cryptogenic Organizing Pneumonia
Weight loss, Anorexia ORPHA:1302
Immunodeficiency 92
Esophagitis, Chronic diarrhea OMIM:619652
T-Cell Immunodeficiency With Thymic Aplasia
Chronic diarrhea, Failure to thrive OMIM:242700
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Stomatitis, Failure to thrive OMIM:308230
Graves Disease
Weight loss OMIM:275000
Giant Cell Arteritis
Hepatic failure, Gastrointestinal infarctions, Renal insufficiency, Hematuria, Weight loss, Anore... ORPHA:397
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Diarrhea, Vomiting, Hepatic failure, Failure to thrive, Oroticaci... ORPHA:470
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Vomiting, Diarrhea, Episodic vomiting OMIM:618321
Thymic Carcinoma
Weight loss ORPHA:99868
Acute Monoblastic/Monocytic Leukemia
Oliguria, Weight loss, Anorexia ORPHA:514
Osteosarcoma
Weight loss ORPHA:668
Tarp Syndrome
Failure to thrive, Horseshoe kidney, Hydronephrosis, Abnormal duodenum morphology, Glossoptosis, ... ORPHA:2886
Acute Promyelocytic Leukemia
Hematuria, Weight loss, Anorexia, Abdominal pain, Stomatitis ORPHA:520
Marfan Syndrome
High, narrow palate, Slender build, Cachexia, Cleft palate ORPHA:558
Chronic Beryllium Disease
Weight loss ORPHA:133
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Acute kidney injury, Oliguria, Feeding d... ORPHA:731
Trichothiodystrophy 5, Nonphotosensitive
Micropenis, Chronic diarrhea OMIM:300953
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, Diffuse mesangial sclerosis, Chronic diarrhea, Failure to thrive OMIM:102700
Good Syndrome
Diarrhea, Dysphagia ORPHA:169105
Dopamine Beta-Hydroxylase Deficiency
Vomiting, Elevated urinary dopamine level, Diarrhea, Nocturia ORPHA:230
Symptomatic Form Of Hfe-Related Hemochromatosis
Chronic hepatic failure, Weight loss, Cholangiocarcinoma, Abdominal pain, Hepatocellular carcinoma ORPHA:465508
Cocaine Intoxication
Acute kidney injury, Vomiting, Gastrointestinal infarctions, Hematuria, Proteinuria, Nausea, Abdo... ORPHA:90068
Sandhoff Disease
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Episodic abdominal pain, Urinar... OMIM:268800
Meier-Gorlin Syndrome 7
Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Vesicoureteral reflux, Decreased body w... OMIM:617063
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Chronic diarrhea, Failure to thrive ORPHA:169154
Bartter Syndrome, Type 2, Antenatal
Nephrocalcinosis, Hyperchloriduria, Diarrhea, Vomiting, Small for gestational age, Failure to thr... OMIM:241200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormality of the ureter, A... ORPHA:141127
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Colchicine Poisoning
Diarrhea, Vomiting, Oliguria, Renal insufficiency, Nausea ORPHA:31824
Cockayne Syndrome Type 1
Proteinuria, Diarrhea, Renal insufficiency, Failure to thrive ORPHA:90321
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Diarrhea OMIM:619313
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Chronic diarrhea, Submucous cleft hard palate, Pyloric stenosis ORPHA:457279
Primary Sclerosing Cholangitis
Acute hepatic failure, Renal insufficiency, Abdominal pain, Chronic hepatic failure, Weight loss,... ORPHA:171
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Diarrhea, Unilateral renal agenesis, Gastroesophageal reflux, Nasogastric tube feeding ORPHA:221139
Aicardi-Goutieres Syndrome 9
Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Weight loss,... OMIM:619487
Trichohepatoneurodevelopmental Syndrome
Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficiency, Decreased b... OMIM:618268
Beta-Thalassemia Major
Failure to thrive in infancy, Diarrhea, Feeding difficulties, Hepatocellular carcinoma ORPHA:231214
Nijmegen Breakage Syndrome
Anal stenosis, Diarrhea, Recurrent infection of the gastrointestinal tract, Hydronephrosis, Anal ... OMIM:251260
Immunodeficiency 25
Protracted diarrhea OMIM:610163
Dextrocardia
Intestinal malrotation, Abnormality of the ureter, Meckel diverticulum ORPHA:1666
Mucopolysaccharidosis, Type Iiid
Diarrhea, Heparan sulfate excretion in urine, Macroglossia, Tube feeding, Dysphagia OMIM:252940
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Chronic constipation, Decreased body weight, Micropenis, High palate, Chronic diarrhea OMIM:619005
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Constipation, Weight loss, Abdominal pain, Dysphagia ORPHA:93672
Leukocyte Adhesion Deficiency, Type I
Chronic diarrhea, Rectal abscess OMIM:116920
Plague
Inflammation of the large intestine, Diarrhea, Vomiting, Ileitis, Enterocolitis, Hematemesis, Ano... ORPHA:707
Peripheral Primitive Neuroectodermal Tumor
Abdominal distention, Nausea and vomiting, Episodic abdominal pain, Weight loss, Anorexia ORPHA:370348
Riddle Syndrome
Enuresis nocturna, Abdominal pain, Diarrhea, Weight loss ORPHA:420741
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Diarrhea, Anuria, Hemolytic-uremic syndrome OMIM:235400
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Weight loss ORPHA:90060
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Adrenocortical Carcinoma
Increased urinary cortisol level, Increased body weight, Abnormality of urine homeostasis, Weight... ORPHA:1501
Bullous Pemphigoid
Weight loss ORPHA:703
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Vomiting, Hydronephrosis, Chronic diarrhea, Cleft palate OMIM:614921
Polycythemia Vera
Early satiety, Abdominal pain, Gastrointestinal hemorrhage, Weight loss ORPHA:729
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Hydronephrosis, Constipation, Abnormal duodenum morphology... OMIM:601776
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Neonatal Inflammatory Skin And Bowel Disease
Perianal dermatitis, Bloody diarrhea, Recurrent gastroenteritis, Anal fissure ORPHA:294023
Sapho Syndrome
Inflammation of the large intestine, Malabsorption, Steatorrhea, Abdominal pain, Chronic diarrhea ORPHA:793
Fryns Syndrome
Meckel diverticulum, Intestinal malrotation, Large for gestational age, Hydronephrosis, Aganglion... OMIM:229850
Phoar2-Enteropathy Syndrome
Secretory diarrhea OMIM:614441
Rothmund-Thomson Syndrome Type 2
Diarrhea, Vomiting, Nasogastric tube feeding, Functional abnormality of the gastrointestinal trac... ORPHA:221016
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Renal insufficiency, Weight loss, Tubulointerstitial nephritis, Nephrotic ... ORPHA:139402
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Malabsorption, Renal insufficiency, Weight loss, Anorexia, Abdominal... ORPHA:79430
Deeah Syndrome
Exocrine pancreatic insufficiency, Malabsorption, Chronic constipation, Decreased body weight, Hi... OMIM:619004
Mucoepithelial Dysplasia, Hereditary
Hematuria, Furrowed tongue, Chronic diarrhea, Melena OMIM:158310
8P23.1 Microdeletion Syndrome
High palate, Weight loss, Hypospadias, Obesity ORPHA:251071
Rothmund-Thomson Syndrome Type 1
Vomiting, Diarrhea, Nasogastric tube feeding, Functional abnormality of the gastrointestinal trac... ORPHA:221008
Cystic Echinococcosis
Renal cyst, Abdominal symptom, Membranous nephropathy, Weight loss ORPHA:400
Abetalipoproteinemia
Vomiting, Failure to thrive, Steatorrhea, Chronic diarrhea, Fat malabsorption ORPHA:14
Immunodeficiency 59 And Hypoglycemia
Recurrent aphthous stomatitis, High palate, Chronic diarrhea, Malabsorption OMIM:233600
Multiple Endocrine Neoplasia Type 4
Peptic ulcer, Diarrhea, Increased urinary cortisol level, Esophagitis, Zollinger-Ellison syndrome... ORPHA:276152
Congenital Syphilis
Nephrotic syndrome, High palate, Diarrhea, Malabsorption ORPHA:499009
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Meckel diverticulum, Hydroureter, Intestinal malrotation, H... OMIM:265380
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Diarrhea, Hematemesis, Melena, Chronic diarrhea... OMIM:301000
Cerebrotendinous Xanthomatosis
Diarrhea, Pseudobulbar paralysis OMIM:213700
Short Syndrome
Weight loss, Poor appetite ORPHA:3163
Japanese Encephalitis
Abdominal pain, Vomiting, Diarrhea, Anorexia ORPHA:79139
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Diarrhea, Ketonuria, Increased urinary glycerol, Failure to thrive i... ORPHA:247598
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Diarrhea, Failure to thrive, Nausea and vomiting, R... ORPHA:358
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Failure to thrive in infancy, Recurrent infection of the gastrointestinal tract, Rectovaginal fis... ORPHA:35078
Omphalocele Syndrome, Shprintzen-Goldberg Type
Anal atresia, Gastroesophageal reflux, Chronic diarrhea, Feeding difficulties in infancy ORPHA:3164
Ectodermal Dysplasia-Skin Fragility Syndrome
Anoperineal fistula, Failure to thrive, Abnormal tongue morphology, Urethral stricture, Chronic d... ORPHA:158668
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Weight loss, Dysphagia, Intestinal pseudo-obstruction OMIM:607459
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level, Secretory diarrhea OMIM:167100
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Weight loss ORPHA:97289
Liver Disease, Severe Congenital
Aminoaciduria, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Dependency on par... OMIM:619991
Farber Disease
Hepatic failure, Chronic diarrhea, Failure to thrive, Feeding difficulties ORPHA:333
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Protracted diarrhea ORPHA:331206
Alveolar Echinococcosis
Vomiting, Decreased liver function, Renal cyst, Weight loss, Abdominal pain ORPHA:284
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Chronic diarrhea, Failure to thrive OMIM:602450
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Ureteral stenosis, Renal insufficiency, Nausea and vomiting, Intesti... ORPHA:900
Dubowitz Syndrome
Anal stenosis, Malabsorption, Submucous cleft hard palate, Hydronephrosis, High palate, Chronic d... ORPHA:235
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Diarrhea, Xerostomia, Abdom... ORPHA:95455
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent infection of the gastrointestinal tract, Chronic diarrhea, Failure to thrive OMIM:612132
Zttk Syndrome
Bifid uvula, Unilateral renal agenesis, Failure to thrive, Horseshoe kidney, Submucous cleft hard... OMIM:617140
Proteus Syndrome
Renal cyst, Cachexia, Long penis, Enlarged kidney ORPHA:744
Pearson Syndrome
Hepatic failure, Glycosuria, Exocrine pancreatic insufficiency, Renal insufficiency, Median cleft... ORPHA:699
Perry Syndrome
Weight loss OMIM:168605
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Glycosuria, Failure to thrive, Exocrine pancreatic insu... OMIM:219800
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Nephrocalcinosis, Hydronephrosis, Constipation, Micropen... ORPHA:264450
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Enuresis nocturna, Gastroesophageal reflux, Failure to thrive, Ankyloglossia... OMIM:615873
Idiopathic Hypereosinophilic Syndrome
Vomiting, Failure to thrive, Malabsorption, Feeding difficulties in infancy, Abdominal pain, Abdo... ORPHA:3260
Dubowitz Syndrome
Gastroesophageal reflux, Velopharyngeal insufficiency, Submucous cleft hard palate, Feeding diffi... OMIM:223370
Rothmund-Thomson Syndrome
Nasogastric tube feeding in infancy, Vomiting, Diarrhea, Small for gestational age ORPHA:2909
Fanconi Anemia
Meckel diverticulum, Hydroureter, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Azoospermia... ORPHA:84
Rheumatoid Arthritis
Weight loss OMIM:180300
Leukocyte Adhesion Deficiency Type Ii
Failure to thrive, Protruding tongue, Recurrent gastroenteritis, Narrow palate, Chronic diarrhea,... ORPHA:99843
Loeffler Endocarditis
Weight loss ORPHA:75566
Lymphoid Interstitial Pneumonia
Weight loss, Enlarged kidney, Failure to thrive ORPHA:79128
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Multiple Myeloma
Nephropathy, Acute kidney injury, Functional abnormality of the gastrointestinal tract, Weight lo... ORPHA:29073
Lipodystrophy, Familial Partial, Type 7
Vomiting, Diarrhea, Failure to thrive, Polyuria, Dysphagia, Small for gestational age, Feeding di... OMIM:606721
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Intestinal malrotation, Exocrine pancreatic insufficiency, Ureteral duplicatio... ORPHA:2255
Brucellosis
Vomiting, Failure to thrive, Abnormality of hepatobiliary system physiology, Abdominal pain, Abno... ORPHA:1304
Marburg Hemorrhagic Fever
Diarrhea, Vomiting, Bloody diarrhea, Renal insufficiency, Abdominal pain, Abnormality of the gast... ORPHA:99826
Adult-Onset Still Disease
Proteinuria, Abdominal pain, Weight loss ORPHA:829
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Failure to thrive, Parotitis, Abdominal pain, Colitis OMIM:620376
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Decreased liver functi... ORPHA:449395
Listeriosis
Acute kidney injury, Vomiting, Diarrhea, Pyelonephritis, Peritonitis, Abdominal pain, Nausea ORPHA:533
Thyrotoxic Periodic Paralysis
Urinary retention, Obesity, Decreased urinary potassium, Constipation, Weight loss ORPHA:79102
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss, Nasogastric tube feeding in infancy, High palate, Dysphagia, Feed... ORPHA:2020
Erdheim-Chester Disease
Nausea and vomiting, Renal insufficiency, Hydronephrosis, Weight loss, Abdominal pain, Dysuria ORPHA:35687
Ogden Syndrome
Diarrhea, Vomiting, Global glomerulosclerosis, Tube feeding, High palate, Polycystic kidney dyspl... OMIM:300855
Postinfectious Vasculitis
Anorexia, Hematuria, Proteinuria, Weight loss, Glomerulonephritis, Membranoproliferative glomerul... ORPHA:48435
Fraser Syndrome 1
Renal hypoplasia, Abnormal small intestine morphology, Abnormality of the anus, Micropenis, Hypos... OMIM:219000
Autosomal Recessive Cutis Laxa Type 1
Multiple bladder diverticula, Urethral diverticulum, Small bowel diverticula, Pyelonephritis, Ves... ORPHA:90349
Pneumocystosis
Weight loss ORPHA:723
Diamond-Blackfan Anemia 21
Obesity, Chronic diarrhea OMIM:620072
Mucopolysaccharidosis Type 3
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Malabsorption, Mucopolys... ORPHA:581
Tropical Endomyocardial Fibrosis
Cachexia, Malnutrition ORPHA:75565
Insulin-Resistance Syndrome Type B
Nephritis, Glycosuria, Abnormality of body weight, Decreased body weight, Proteinuria, Increased ... ORPHA:2298
Immunodeficiency 36 With Lymphoproliferation
Chronic diarrhea OMIM:616005
Felty Syndrome
Weight loss ORPHA:47612
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Failure to thrive, Feeding difficulties OMIM:618278
Hurler Syndrome
Macroglossia, Mucopolysacchariduria, Chronic diarrhea, Feeding difficulties ORPHA:93473
Selective Igm Deficiency
Recurrent infection of the gastrointestinal tract, Stomach cancer, Chronic diarrhea, Crohn's disease ORPHA:331235
Yellow Fever
Acute kidney injury, Diarrhea, Vomiting, Anuria, Renal insufficiency, Abdominal pain, Hematemesis... ORPHA:99829
Kawasaki Disease
Strawberry tongue, Diarrhea, Sterile pyuria, Nausea and vomiting, Proteinuria, Abdominal pain, Gl... ORPHA:2331
Viss Syndrome
Cleft soft palate, Chronic constipation, Abdominal distention, Celiac disease, High palate, Dysph... OMIM:619472
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dyspha... ORPHA:273
Occipital Horn Syndrome
Ureteral obstruction, Hiatus hernia, Hydronephrosis, Bladder diverticulum, High palate, Chronic d... OMIM:304150
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Diarrhea OMIM:307200
Norrie Disease
Cachexia, Failure to thrive ORPHA:649
Behçet Disease
Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Malabsorption, Renal insufficiency, N... ORPHA:117
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Weight loss, Organic aciduria OMIM:301310
Immunodeficiency 55
Diarrhea OMIM:617827
Oculopharyngodistal Myopathy 1
High palate, Weight loss, Dysphagia OMIM:164310
Crimean-Congo Hemorrhagic Fever
Hepatic failure, Diarrhea, Parotitis, Anorexia, Nausea and vomiting, Hematuria, Proteinuria, Hema... ORPHA:99827
Scorpion Envenomation
Acute kidney injury, Vomiting, Diarrhea, Ketonuria, Glycosuria, Abdominal pain ORPHA:466677
Wiskott-Aldrich Syndrome
Nephropathy, Hematochezia, Inflammation of the large intestine, Hematemesis, Chronic diarrhea ORPHA:906
Immunodeficiency 47
Exocrine pancreatic insufficiency, Chronic diarrhea, Failure to thrive OMIM:300972
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Vomiting, Small bowel diverticula, Pyelonephritis, Bladder diverticulu... ORPHA:90348
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Diarrhea, Increased urinary cor... ORPHA:99889
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Acute Liver Failure
Acute kidney injury, Vomiting, Gastrointestinal hemorrhage, Diarrhea, Nausea ORPHA:90062
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Hypercalciuria, Weight loss, Anorexia, Abnormal salivary gla... OMIM:181000
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Failure to thrive, Renal tubular dysfunction, Weight... ORPHA:99885
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Q Fever
Hematuria, Weight loss, Anorexia ORPHA:781
Anemia, Congenital Dyserythropoietic, Type Iv
Micropenis, Weight loss, Hypospadias OMIM:613673
Pyomyositis
Weight loss, Renal insufficiency ORPHA:764
Genitopatellar Syndrome
Malrotation of small bowel, Anal stenosis, Multicystic kidney dysplasia, Anteriorly placed anus, ... OMIM:606170
Poems Syndrome
Weight loss ORPHA:2905
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Unilateral renal agenesis, Gastroesophageal reflux, Horseshoe kidney, Gastroparesis,... ORPHA:500150
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Horseshoe kidney, Vesicoureteral reflux, Ureteral duplication, Cleft palate OMIM:274000
Ataxia-Telangiectasia
Chronic diarrhea, Failure to thrive OMIM:208900
Mucolipidosis Type Ii
Weight loss, Protuberant abdomen, Gastrostomy tube feeding in infancy ORPHA:576
Agammaglobulinemia, X-Linked
Chronic diarrhea, Hepatocellular carcinoma OMIM:300755
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Abnormality of the submandibular glands, Enlargement of parotid gland, Weight loss, T... ORPHA:79078
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Long penis, Vomiting, Hypernatriuria, Failure to thrive, Weight loss, Urogenital sinus anomaly, R... ORPHA:90794
Wolf-Hirschhorn Syndrome
Malrotation of small bowel, Gastroesophageal reflux, Failure to thrive, Hypospadias, Small for ge... OMIM:194190
Leptospirosis
Acute kidney injury, Diarrhea, Nausea and vomiting, Cellular urinary casts, Anorexia, Abdominal pain ORPHA:509
Chikungunya
Vomiting, Diarrhea ORPHA:324625
African Trypanosomiasis
Vomiting, Diarrhea, Renal insufficiency, Weight loss, Urinary incontinence, Nausea ORPHA:3385
Nocardiosis
Peritonitis, Vomiting, Weight loss, Anorexia ORPHA:31204
Tsh-Secreting Pituitary Adenoma
Vomiting, Nausea and vomiting, Weight loss ORPHA:91347
Familial Thrombocytosis
Weight loss ORPHA:71493
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filtration rate, Re... ORPHA:91500
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Weight loss, Lupus nephritis, Anorexia, Pyuria ORPHA:536
Sarcoidosis
Nephrocalcinosis, Hepatic failure, Decreased liver function, Parotitis, Enlargement of parotid gl... ORPHA:797
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Enlargement of parotid gland, Weight loss, Anorexia ORPHA:50918
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Chronic diarrhea, Heparan sulfate excretion in urine, Dermatan sulfate excretion in... ORPHA:217085
Dermatomyositis
Gastrointestinal stroma tumor, Feeding difficulties in infancy, Dysphagia, Weight loss ORPHA:221
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Chronic diarrhea, Heparan sulfate excretion in urine, Dermatan sulfate excretion in... ORPHA:217093
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Exaggerated median tongue furrow, Meckel diverticulum, Duplication of renal pelvis... OMIM:312870
Nmda Receptor Encephalitis
Vomiting, Diarrhea ORPHA:217253
Pulmonary Alveolar Microlithiasis
Hematuria, Calcium nephrolithiasis, Weight loss ORPHA:60025
Cerebrotendinous Xanthomatosis
Chronic diarrhea ORPHA:909
Mucopolysaccharidosis Type 2
Macroglossia, Chronic diarrhea ORPHA:580
Aspartylglucosaminuria
Diarrhea, Macroglossia, Aspartylglucosaminuria OMIM:208400
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Choreoacanthocytosis
Weight loss, Dysphagia, Protruding tongue ORPHA:2388
Hutchinson-Gilford Progeria Syndrome
Ankyloglossia, High palate, Weight loss, Severe failure to thrive ORPHA:740
Goodpasture Syndrome
Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Proteinuria, Weight loss, Glomerulonep... OMIM:233450

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 Rab8a

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 Rab8a.

No publications found that use IMPC mice or data for Rab8a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rab8atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Rab8aem1(IMPC)J Exon Deletion Mice
Rab8atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter