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Gene: Rab8a MGI:96960

Gene Summary

Name:

RAB8A, member RAS oncogene family

Synonyms:

Mel

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased grip strength		Rab8a^em1(IMPC)J	HET		Early adult	1.34×10^-07
decreased lean body mass		Rab8a^em1(IMPC)J	HET		Early adult	3.26×10^-05

Download data as: TSV XLS

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X-ray

XRay Images Forepaw

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Auditory Brain Stem Response

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

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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.

Human diseases associated with Rab8a (0 diseases)
Human diseases predicted to be associated with Rab8a (797 diseases)

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	Matching phenotypes	Source
Lactose Intolerance, Adult Type	Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,...	OMIM:223100
Diarrhea 9	Villous atrophy, Failure to thrive, Diarrhea	OMIM:618168
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t...	OMIM:613217
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ...	ORPHA:103907
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Abdominal colic, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive	OMIM:615863
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea	OMIM:251850
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy, Diarrhea	OMIM:618662
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ...	OMIM:619445
Trehalase Deficiency	Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Bile Acid Malabsorption, Primary, 1	Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive	OMIM:613291
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas...	OMIM:613662
Sucrase-Isomaltase Deficiency, Congenital	Abdominal pain, Diarrhea, Nephrolithiasis, Malabsorption	OMIM:222900
Trehalase Deficiency	Diarrhea, Abdominal pain	OMIM:612119
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los...	OMIM:619079
Homozygous 11P15-P14 Deletion Syndrome	Feeding difficulties in infancy, Diarrhea, Generalized aminoaciduria, Renal tubular dysfunction, ...	OMIM:606528
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal transit ti...	OMIM:620045
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
Chylomicron Retention Disease	Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea...	OMIM:246700
5-Oxoprolinase Deficiency	Calcium oxalate nephrolithiasis, Abdominal pain, Diarrhea, Enterocolitis, Increased level of L-py...	OMIM:260005
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Hirschsprung Disease	Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure...	ORPHA:388
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet...	ORPHA:2198
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Diarrhea, Weight loss, Feeding difficulties, Aminoaciduria, Proximal tubulopathy, Vomit...	OMIM:612075
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Solitary Rectal Ulcer Syndrome	Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio...	ORPHA:209964
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Congenital Sucrase-Isomaltase Deficiency	Abdominal colic, Abdominal distention, Diarrhea, Vomiting	ORPHA:35122
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif...	ORPHA:1201
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,...	OMIM:175500
Microvillus Inclusion Disease	Villous atrophy, Abdominal distention, Diarrhea, Nephrocalcinosis, Abnormal small intestinal vill...	ORPHA:2290
Angioedema, Hereditary, 8	Diarrhea, Episodic vomiting, Abdominal pain	OMIM:619367
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Obesity, Diarrhea, Malabsorption	OMIM:600955
Congenital Enterocyte Heparan Sulfate Deficiency	Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy	ORPHA:103910
Secretory Component Deficiency	Intermittent diarrhea	OMIM:269650
Cronkhite-Canada Syndrome	Intestinal polyposis, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Furrowed tongu...	ORPHA:2930
Idiopathic Achalasia	Weight loss, Gastroesophageal reflux, Malnutrition, Dysphagia	ORPHA:930
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno...	ORPHA:2494
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea	OMIM:614328
Trichohepatoenteric Syndrome 2	Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis,...	OMIM:614602
Diarrhea 4, Malabsorptive, Congenital	Diarrhea, Failure to thrive, Vomiting	OMIM:610370
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Wolman Disease	Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,...	ORPHA:75233
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes...	OMIM:603041
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea	ORPHA:3217
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Diarrhea, Hepatic failure, Renal cyst, Proximal tubulopathy, Protein-losing ente...	OMIM:602579
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Poor appetite,...	ORPHA:298
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Failure to thrive, Vomiting, Methylmalonic aciduria	OMIM:614265
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Anorexia, Weight loss	ORPHA:52416
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Glucose/Galactose Malabsorption	Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Glycosuria, Fail...	OMIM:606824
Coproporphyria, Hereditary	Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo...	OMIM:121300
Alexander Disease Type I	Failure to thrive, Vomiting, Cachexia, Dysphagia	ORPHA:363717
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar...	ORPHA:26790
Vascular Hyalinosis	Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption	OMIM:277175
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Diarrhea, Steatorrhea, ...	ORPHA:2070
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Diarrhea, Vomiting	OMIM:605911
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Isolated Congenital Hypoglossia/Aglossia	Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Microglossi...	ORPHA:141152
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, Failure to t...	OMIM:616050
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia, Dysphagia	OMIM:618093
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea...	ORPHA:263665
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Cachexia, Testicular neoplasm, Abdominal pain, Abdominal distention, Ileus, ...	ORPHA:83469
Rabies	Nausea and vomiting, Diarrhea, Anorexia	ORPHA:770
Diencephalic Syndrome	Long penis, Cachexia, Decreased body weight	ORPHA:1672
Immunodeficiency 104	Diarrhea, Gastroesophageal reflux, Failure to thrive secondary to recurrent infections	OMIM:608971
Refractory Celiac Disease	Villous atrophy, Malabsorption, Abdominal pain, Chronic diarrhea, Malnutrition, Weight loss, Prot...	ORPHA:398063
Jejunal Atresia	Jejunal atresia	OMIM:243600
Mulibrey Nanism	Cachexia	ORPHA:2576
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss	ORPHA:30925
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Vomiting, Tube feeding	OMIM:619510
Folate Malabsorption, Hereditary	Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption	OMIM:229050
Hypercholanemia, Familial 1	Fat malabsorption, Failure to thrive, Steatorrhea	OMIM:607748
Reticular Dysgenesis	Failure to thrive, Diarrhea, Weight loss, Malabsorption	ORPHA:33355
Enteric Anendocrinosis	Diarrhea, Vomiting, Malabsorption	ORPHA:83620
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Abdom...	OMIM:619377
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula	OMIM:601110
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s...	OMIM:300048
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea	ORPHA:309108
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema...	OMIM:174900
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea	OMIM:615767
Brunner Syndrome	Diarrhea	OMIM:300615
Laryngotracheoesophageal Cleft Type 4	Tracheoesophageal fistula, Cachexia, Intestinal atresia	ORPHA:93941
Attrv30M Amyloidosis	Diarrhea, Weight loss, Constipation, Nephropathy, Abnormal renal physiology	ORPHA:85447
Christianson Syndrome	Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia	ORPHA:85278
Central Diabetes Insipidus	Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive, Nocturia	ORPHA:178029
Diarrhea 13	Failure to thrive, Secretory diarrhea, Vomiting	OMIM:620357
Moynahan Syndrome	Cachexia	ORPHA:2574
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Feeding difficulties	ORPHA:157973
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Abdominal pain, Malabsorption	ORPHA:100025
Glucose-Galactose Malabsorption	Renal insufficiency, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Neph...	ORPHA:35710
Mpi-Cdg	Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func...	ORPHA:79319
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Malabsorption, Protracted diarrhea, Colitis, Failure to thrive	OMIM:209920
X-Linked Creatine Transporter Deficiency	Constipation, Ileus, Aganglionic megacolon, Cachexia	ORPHA:52503
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea	OMIM:614102
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intermittent diarrhea, Obesity, Feeding difficulties	OMIM:620270
Enterokinase Deficiency	Diarrhea, Failure to thrive	OMIM:226200
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden...	ORPHA:79076
Pancreatic Lipase Deficiency	Fat malabsorption, Steatorrhea	OMIM:614338
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Cachexia, Diarrhea, Vomiting, Decr...	ORPHA:42
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab...	ORPHA:90362
Immunodeficiency 48	Diarrhea, Failure to thrive	OMIM:269840
Pulmonary Blastoma	Weight loss	ORPHA:64741
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Glomerulonephritis, Chronic diarrhea, Ileus, Failure to thrive	OMIM:304790
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties	OMIM:616801
Malignant Peritoneal Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss	ORPHA:168811
Renpenning Syndrome	Hypospadias, Cachexia, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia	ORPHA:3242
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Protein-losing enteropathy, Lacticaciduria	OMIM:619063
Riboflavin Transporter Deficiency	Cachexia, Dysphagia	ORPHA:97229
Sandhoff Disease, Juvenile Form	Urinary incontinence, Diarrhea, Constipation, Dysphagia, Failure to thrive	ORPHA:309162
Laryngeal Neuroendocrine Tumor	Weight loss, Anorexia, Oral-pharyngeal dysphagia	ORPHA:100083
Cholestasis, Progressive Familial Intrahepatic, 2	Fat malabsorption, Failure to thrive, Diarrhea, Hepatocellular carcinoma	OMIM:601847
Cholesteryl Ester Storage Disease	Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix	ORPHA:75234
Pfapa Syndrome	Nausea and vomiting, Abdominal pain, Weight loss, Malabsorption	ORPHA:42642
Erythroderma Desquamativum	Diarrhea, Failure to thrive	ORPHA:314
Galactose Epimerase Deficiency	Nausea and vomiting, Aminoaciduria, Feeding difficulties, Weight loss	ORPHA:79238
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep...	ORPHA:65682
Tuberculosis	Weight loss	ORPHA:3389
Immunodeficiency 57 With Autoinflammation	Gastritis, Perianal abscess, Diarrhea, Inflammation of the large intestine, Failure to thrive	OMIM:618108
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Alg1-Cdg	Abnormality of the gastrointestinal tract, Renal insufficiency, Chronic diarrhea, Nephrotic syndr...	ORPHA:79327
Glutaric Aciduria Iii	Glutaric aciduria, Diarrhea, Failure to thrive, Vomiting	OMIM:231690
Bile Acid Synthesis Defect, Congenital, 2	Diarrhea, Failure to thrive, Hepatic failure, Steatorrhea	OMIM:235555
Mungan Syndrome	Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,...	OMIM:611376
Mcdonough Syndrome	Cryptorchidism, Cachexia	ORPHA:2471
Peritoneal Cystic Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation	ORPHA:168816
Bile Acid Synthesis Defect, Congenital, 1	Diarrhea, Hepatic failure, Acholic stools, Steatorrhea, Fat malabsorption, Failure to thrive	OMIM:607765
Chylomicron Retention Disease	Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive	ORPHA:71
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Cachexia, Renal salt wasting, Abdominal pain...	ORPHA:275761
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Vomi...	OMIM:143880
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Aa Amyloidosis	Proteinuria, Malabsorption, Abdominal pain, Chronic diarrhea, Chronic kidney disease, Malnutritio...	ORPHA:85445
Tetrasomy 12P	Abnormal soft palate morphology, Cachexia, Anal atresia	ORPHA:884
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia	ORPHA:1438
Chronic Hiccup	Malnutrition, Weight loss	ORPHA:396
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties	OMIM:619971
Undifferentiated Pleomorphic Sarcoma	Anorexia, Weight loss	ORPHA:2023
Neuroendocrine Tumor Of The Rectum	Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro...	ORPHA:100082
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nephropa...	ORPHA:85450
Porphyria, Acute Intermittent	Urinary incontinence, Dysuria, Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting,...	OMIM:176000
Mitchell-Riley Syndrome	Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic...	OMIM:615710
Malonyl-Coa Decarboxylase Deficiency	Abdominal pain, Diarrhea, Methylmalonic aciduria, Chronic constipation, Elevated urine suberic ac...	OMIM:248360
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Cachexia, High palate, Narrow palate	OMIM:618186
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure...	ORPHA:371364
Majeed Syndrome	Proteinuria, Microscopic hematuria, Cachexia, Malabsorption, Weight loss, Failure to thrive	ORPHA:77297
Silver-Russell Syndrome	Hypospadias, Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Feeding difficultie...	ORPHA:813
Immunodeficiency 19	Failure to thrive, Chronic diarrhea	OMIM:615617
Rett Syndrome	Constipation, Gastroesophageal reflux, Cachexia	OMIM:312750
Netherton Syndrome	Villous atrophy, Failure to thrive, Recurrent infection of the gastrointestinal tract, Intestinal...	OMIM:256500
Whipple Disease	Gastrointestinal hemorrhage, Anorexia, Cachexia, Malabsorption, Abdominal pain, Diarrhea	ORPHA:3452
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Ileus, Secretory diarrhea, Tubu...	ORPHA:37042
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Failure to thrive	OMIM:613501
Cog7-Cdg	Diarrhea, Failure to thrive, Small for gestational age, Feeding difficulties	ORPHA:79333
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Pearson Marrow-Pancreas Syndrome	Villous atrophy, Small for gestational age, Anorexia, Malabsorption, Hepatic failure, Chronic dia...	OMIM:557000
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Chromosome 19P13.13 Deletion Syndrome	Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting	OMIM:613638
Pelizaeus-Merzbacher Disease	Cachexia, Failure to thrive in infancy, Bowel incontinence	ORPHA:702
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh...	ORPHA:67
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Renal salt wasting, Feeding difficulties in infancy, Diarrhea, Vomiting, Failure to thrive	OMIM:264350
Cholestasis, Progressive Familial Intrahepatic, 1	Fat malabsorption, Failure to thrive, Diarrhea	OMIM:211600
Congenital Disorder Of Glycosylation, Type Ih	Cryptorchidism, Diarrhea, Abdominal distention, Protein-losing enteropathy, Vomiting, Decreased l...	OMIM:608104
Yao Syndrome	Abdominal pain, Diarrhea, Xerostomia, Nephrolithiasis, Weight loss	OMIM:617321
Neuroendocrine Tumor Of The Colon	Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Melena, Protracted di...	ORPHA:100080
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic aciduria, Methylmalonic aciduria, Vomiting, Intermittent diarrhea, Failure to thrive...	ORPHA:289504
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
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi...	ORPHA:131
Maculopapular Cutaneous Mastocytosis	Diarrhea, Vomiting, Nausea, Abdominal pain	ORPHA:79457
Immunodeficiency 31C	Villous atrophy, Diarrhea, Weight loss, Gastrointestinal eosinophilia, Protein-losing enteropathy...	OMIM:614162
Congenital-Onset Steinert Myotonic Dystrophy	Abdominal pain, Encopresis, Diarrhea, Obesity, Enuresis, Constipation, Gastroesophageal reflux, D...	ORPHA:589821
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Aminoaciduria, Methylmalonic aciduria	ORPHA:1933
Hyaline Fibromatosis Syndrome	Diarrhea, Failure to thrive	OMIM:228600
Immunodeficiency 11B With Atopic Dermatitis	Chronic diarrhea, Colonic eosinophilia, Ulcerative colitis	OMIM:617638
Isolated Agammaglobulinemia	Diarrhea, Failure to thrive, Malabsorption	ORPHA:229717
Acquired Hypertrichosis Lanuginosa	Poor appetite, Chronic diarrhea, Weight loss, Macroglossia, Glossitis	ORPHA:2221
Alg6-Cdg	Macroglossia, Failure to thrive, Protein-losing enteropathy, Feeding difficulties	ORPHA:79320
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chronic diarrhea,...	OMIM:619858
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Chronic diarrhea, Enlarged kidney	OMIM:615285
Infantile Krabbe Disease	Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Gastroesophageal reflux, Vom...	ORPHA:206436
Immunodeficiency 69	Diarrhea, Failure to thrive	OMIM:618963
Rapadilino Syndrome	High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate	OMIM:266280
Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Urinary retention, Dysph...	ORPHA:1267
Myopathy, Myofibrillar, 1	Diarrhea, Constipation	OMIM:601419
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia	ORPHA:2774
Porphyria Due To Ala Dehydratase Deficiency	Purple urine, Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, I...	ORPHA:100924
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Chronic diarrhea, Inflammation of the large intestine, Colit...	OMIM:614700
Dracunculiasis	Nausea and vomiting, Diarrhea	ORPHA:231
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Proteinuria, Feeding difficulties in infancy, Diarrhea, Renal cyst, Nephrotic sy...	OMIM:212065
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Vomiting, Abdominal pain	OMIM:620137
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Immunodeficiency 76	Chronic diarrhea, Colitis	OMIM:619164
Familial Pancreatic Carcinoma	Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Anorexia, ...	ORPHA:1333
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Poor appetite, Diarrhea, Nephrolithiasis, Dysphagia, Nausea	ORPHA:352447
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Secretory diarrhea, Vomiting	OMIM:616069
Galactosemia I	Diarrhea, Albuminuria, Aminoaciduria, Vomiting, Galactosuria, Increased level of galactitol in ur...	OMIM:230400
Methionine Malabsorption Syndrome	Diarrhea, Aminoaciduria	OMIM:250900
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Abnormal intestine morphology, V...	OMIM:226300
Foodborne Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Urinary retention, Dysph...	ORPHA:228371
Juvenile Amyotrophic Lateral Sclerosis	Gastrostomy tube feeding in infancy, Urinary incontinence, Cachexia, Dysphagia	ORPHA:300605
Neuroendocrine Tumor Of Stomach	Nausea and vomiting, Anorexia, Poor appetite, Hematemesis, Bowel urgency, Lack of bowel sounds, B...	ORPHA:100075
19Q13.11 Microdeletion Syndrome	Hypospadias, Cachexia, Cryptorchidism, Feeding difficulties, Failure to thrive	ORPHA:217346
Immunodeficiency 15B	Failure to thrive, Chronic diarrhea	OMIM:615592
Pancreatoblastoma	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting	ORPHA:677
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, Chronic diarrhea, Failure to thrive in infancy	OMIM:606367
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Failure to ...	ORPHA:927
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E...	OMIM:243150
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis	OMIM:613960
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Hydrocele testis, Protein-losing enteropathy, Feeding difficulties	OMIM:618154
Inflammatory Pseudotumor Of The Liver	Abdominal pain, Abdominal distention, Weight loss, Neoplasm of the liver, Vomiting, Nausea	ORPHA:90003
Wild Type Attr Amyloidosis	Renal insufficiency, Proteinuria, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarr...	ORPHA:330001
Medullary Thyroid Carcinoma	Diarrhea, Weight loss, Dysphagia	ORPHA:1332
Intestinal Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia	ORPHA:178481
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Diarrhea, Weight loss	ORPHA:33276
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy	OMIM:613502
Immunodeficiency 46	Failure to thrive, Chronic diarrhea	OMIM:616740
Rhabdoid Tumor	Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Hematuria, Neoplasm of the liver	ORPHA:69077
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Weight loss, Abdo...	ORPHA:98850
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Blue Diaper Syndrome	Nephrocalcinosis, Blue urine, Diarrhea, Increased body weight	ORPHA:94086
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney...	ORPHA:1018
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Diarrhea, Failure to thrive, Vomiting, Feeding difficulties	OMIM:177735
Adult Intestinal Botulism	Diarrhea	ORPHA:178487
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft pal...	OMIM:270420
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Hematuria, Acute kidney injury	ORPHA:54057
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Urinary retention, Constipation	ORPHA:254504
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Malabsorption, Protruding tongue, Diarrhea, Macroglossia, Failure to thrive	OMIM:242860
Hereditary Folate Malabsorption	Nausea and vomiting, Anorexia, Diarrhea, Gastroesophageal reflux, Failure to thrive, Glossitis	ORPHA:90045
Aredyld Syndrome	Abnormality of the ureter, Cachexia	ORPHA:1133
Congenital Disorder Of Glycosylation, Type Iij	Chronic diarrhea, Feeding difficulties, Hepatic failure, Failure to thrive, Recurrent infection o...	OMIM:613489
Intellectual Developmental Disorder, Autosomal Dominant 51	Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti...	OMIM:617788
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Nasogastric tube feeding	ORPHA:163961
Colonic Atresia	Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Bile Acid Synthesis Defect, Congenital, 3	Diarrhea, Hepatic failure, Hematochezia, Acholic stools, Steatorrhea, Failure to thrive	OMIM:613812
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic constipation,...	OMIM:301074
Syndromic Diarrhea	Villous atrophy, Gastritis, Small for gestational age, Renal hypoplasia, Bloody diarrhea, Colitis...	ORPHA:84064
Autosomal Agammaglobulinemia	Diarrhea, Failure to thrive, High palate, Malabsorption	ORPHA:33110
Congenital Disorder Of Glycosylation, Type Ii	Diarrhea, Gastroesophageal reflux, High palate, Decreased body weight, Nasogastric tube feeding	OMIM:607906
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Hypospadias, Diarrhea, Glandular hypospadias, Nephrotic syndrome	ORPHA:2575
Celiac Disease, Susceptibility To, 1	Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Weight loss, Vomiting, Recurrent ...	OMIM:212750
Congenital Toxoplasmosis	Diarrhea, Failure to thrive in infancy	ORPHA:858
Bile Acid Malabsorption, Primary, 2	Chronic diarrhea, Steatorrhea	OMIM:619481
Satoyoshi Syndrome	Diarrhea, Malabsorption	OMIM:600705
Lissencephaly, X-Linked, 2	Feeding difficulties in infancy, Diarrhea, High palate, Micropenis, Decreased testicular size	OMIM:300215
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Microsporidiosis	Cachexia, Anorexia, Abdominal pain, Nephritis, Peritonitis, Chronic diarrhea, Urethritis, Weight ...	ORPHA:2552
Ethylmalonic Encephalopathy	Diarrhea, Failure to thrive, Ethylmalonic aciduria	ORPHA:51188
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,...	ORPHA:100078
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritabilit...	OMIM:619381
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Abdominal pain, Diarrhea,...	ORPHA:79101
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Abdominal pain, Diarrhea, Elevated urinary dopamine level, ...	OMIM:256700
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Weight loss	ORPHA:86893
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Pleural Mesothelioma	Weight loss, Dysphagia	ORPHA:50251
Neuroendocrine Neoplasm Of Appendix	Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex...	ORPHA:100079
Nephroblastoma	Hematuria, Neoplasm of the liver, Abdominal pain, Weight loss	ORPHA:654
Erythermalgia, Primary	Diarrhea, Xerostomia, Constipation	OMIM:133020
Ppoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97278
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Fat malabsorption, Failure to thrive, Hepatic failure	OMIM:214950
Immunodeficiency 27A	Diarrhea, Anorexia, Weight loss	OMIM:209950
Typhoid	Gastrointestinal hemorrhage, Diarrhea, Constipation, Abdominal pain	ORPHA:99745
Shigellosis	Failure to thrive in infancy, Anorexia, Abdominal pain, Intestinal perforation, Hemolytic-uremic ...	ORPHA:810
Fatal Familial Insomnia	Urinary retention, Weight loss, Constipation, Dysphagia	OMIM:600072
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Anuria, Abdominal pain, Intestinal perforation, Rectal prolapse, Diarrhea, Colonic stenosis, Peri...	ORPHA:90038
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Diarrhea, Failure to thrive, Weight loss	ORPHA:1842
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria, Diarrhea, Abdominal pain	OMIM:615399
Complement Component 4B Deficiency	Chronic diarrhea	OMIM:614379
Primary Myelofibrosis	Cachexia, Anorexia	ORPHA:824
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr...	ORPHA:309031
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Cachexia, Obesity, High palate, Decreased testicular size	ORPHA:85293
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Feeding difficulties, Bloody diarrhea	OMIM:615119
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abdominal pain, Diarrhea, Abnormal testis morphology, Weight loss	ORPHA:54251
Trichohepatoenteric Syndrome 1	Villous atrophy, Hypospadias, Small for gestational age, Galactosuria, Hepatic failure, Intractab...	OMIM:222470
Alg8-Cdg	Abnormality of the gastrointestinal tract, Small for gestational age, Diarrhea, Feeding difficult...	ORPHA:79325
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Diarrhea, Failure to thrive	ORPHA:277
Cholesteryl Ester Storage Disease	Acute hepatic failure, Diarrhea, Hepatic failure, Esophageal varix, Vomiting, Protuberant abdomen...	OMIM:278000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Diarrhea, Proximal tubulopathy, Vomiting, Failure to thrive	OMIM:560000
Immunodeficiency 14B, Autosomal Recessive	Chronic diarrhea, Inflammation of the large intestine, Colitis	OMIM:619281
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur...	ORPHA:343
Isaacs Syndrome	Weight loss	ORPHA:84142
Trigonocephaly 1	High, narrow palate, Meckel diverticulum, Long penis	OMIM:190440
Spontaneous Periodic Hypothermia	Nausea and vomiting, Diarrhea	ORPHA:29822
Familial Glucocorticoid Deficiency	Anorexia, Renal salt wasting, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Weight los...	ORPHA:361
Liposarcoma	Nausea and vomiting, Abdominal pain, Weight loss	ORPHA:69078
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, Vomiting, Dysphagia...	ORPHA:319218
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien...	ORPHA:90291
Encephalopathy, Ethylmalonic	Failure to thrive, Chronic diarrhea, Ethylmalonic aciduria, Feeding difficulties	OMIM:602473
Nijmegen Breakage Syndrome	Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Cleft palate, Pollakisuria, Anal at...	ORPHA:647
Angioedema, Hereditary, 1	Diarrhea, Vomiting, Intestinal edema, Abdominal pain	OMIM:106100
Cog4-Cdg	Fatal liver failure in infancy, Failure to thrive in infancy, Feeding difficulties, Intermittent ...	ORPHA:263501
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Cachexia, Abnormal large intestine morphology, Narrow palate, Hamartomatous...	ORPHA:109
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Diarrhea, Failure to thrive	OMIM:618495
Retinal Dystrophy And Microvillus Inclusion Disease	Chronic diarrhea	OMIM:619446
Parenteral Nutrition-Associated Cholestasis	Villous atrophy, Hepatic failure, Small for gestational age, Abdominal pain	ORPHA:567983
Cutaneous Mastocytoma	Diarrhea, Vomiting, Nausea, Abdominal pain	ORPHA:79455
X-Linked Agammaglobulinemia	Malabsorption, Chronic diarrhea, Weight loss, Glossoptosis, Failure to thrive	ORPHA:47
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Weight loss	ORPHA:411703
Acrodermatitis Enteropathica	Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Furrowed tongue, Weight loss, Failure t...	ORPHA:37
Cholestasis, Progressive Familial Intrahepatic, 3	Diarrhea, Malabsorption	OMIM:602347
Adiposis Dolorosa	Constipation, Xerostomia, Obesity, Diarrhea	ORPHA:36397
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Increased urinary cortisol level, Intestinal obstruction, Duodenal u...	ORPHA:913
Hereditary Angioedema Type 1	Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,...	ORPHA:100050
American Trypanosomiasis	Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia	ORPHA:3386
Somatostatinoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97283
Immunodeficiency 17	Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent gastroenteritis, ...	OMIM:615607
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ...	ORPHA:144
Carnitine Deficiency, Systemic Primary	Failure to thrive, Diarrhea, Dicarboxylic aciduria, Vomiting	OMIM:212140
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Colitis, Ileal ulcer	OMIM:616744
Peutz-Jeghers Syndrome	Abdominal pain, Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Bloody diarr...	OMIM:175200
Mednik Syndrome	Volvulus, Jejunal atresia, Microcolon, Diarrhea	OMIM:609313
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Diarrhea, Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease	OMIM:616100
Snakebite Envenomation	Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Acute kidney injury	ORPHA:449285
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Secret...	OMIM:619573
Grfoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97261
Martinez-Frias Syndrome	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi...	OMIM:601346
Congenital Myopathy 20	Failure to thrive, Chronic diarrhea, High palate	OMIM:620310
Caspase 8 Deficiency	Failure to thrive, Chronic diarrhea	OMIM:607271
Trisomy 18	Cachexia, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Hydronephrosis, Anal a...	ORPHA:3380
Systemic Capillary Leak Syndrome	Renal insufficiency, Abdominal pain, Diarrhea, Oliguria, Weight loss	ORPHA:188
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di...	OMIM:162300
Cog8-Cdg	Failure to thrive, Protein-losing enteropathy	ORPHA:95428
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Abdominal pain, Intestinal ...	ORPHA:679
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Anorexia, Diarrhea, Failure to thrive secondary to recurrent infections, Protracted diarrhea	ORPHA:169160
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Diarrhea, Esophageal carcinoma, Functional abnormality of the bladder, Enterocol...	ORPHA:391487
Immunodeficiency 56	Failure to thrive, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Hepatic f...	OMIM:615207
Necrotizing Enterocolitis	Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting	ORPHA:391673
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Anorexia	ORPHA:49827
Late-Onset Isolated Acth Deficiency	Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Weight loss, Constipatio...	ORPHA:199299
Immunodeficiency 60 And Autoimmunity	Chronic diarrhea, Colitis, Crohn's disease, Ulcerative colitis	OMIM:618394
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi...	ORPHA:440437
Igg4-Related Aortitis	Abdominal pain, Intestinal obstruction, Hydronephrosis, Weight loss	ORPHA:449400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Diarrhea, High palate	OMIM:614069
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting	ORPHA:79456
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Hepatic failure, Renal cyst, Steatorrhea, Fat malabsorption, Failure to thrive	ORPHA:79303
Sepsis In Premature Infants	Small for gestational age, Abdominal distention, Diarrhea, Gastrointestinal dysmotility, Enteroco...	ORPHA:90051
Acute Intermittent Porphyria	Dark urine, Nausea and vomiting, Renal insufficiency, Urinary incontinence, Dysuria, Abdominal pa...	ORPHA:79276
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Proteinuria, Malabsorption, O...	ORPHA:342
Glucagonoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97280
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate, Cachexia, Anorexia	ORPHA:1969
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea, Esophageal atresia, Urethrovesical occlusion, Congenital pyloric atresia	OMIM:226730
Non-Functioning Paraganglioma	Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr...	ORPHA:94080
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Weight loss	ORPHA:100024
Severe Combined Immunodeficiency, X-Linked	Failure to thrive, Chronic diarrhea	OMIM:300400
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting	OMIM:142680
Immunodeficiency 40	Intermittent diarrhea, Focal active colitis, Chronic diarrhea, Rectal fistula	OMIM:616433
Immunodeficiency 7	Diarrhea, Failure to thrive	OMIM:615387
Glycogen Storage Disease Ixb	Diarrhea	OMIM:261750
Cold Agglutinin Disease	Nausea and vomiting, Abnormal urinary color, Diarrhea	ORPHA:56425
Classic Galactosemia	Cryptorchidism, Diarrhea, Feeding difficulties, Vomiting, Hepatic failure	ORPHA:79239
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Feeding difficulties, Failure to...	OMIM:616395
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Nausea and vomiting, Dys...	ORPHA:36426
Dengue Fever	Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Abdominal pain	ORPHA:99828
Cholestasis, Progressive Familial Intrahepatic, 6	Failure to thrive, Chronic diarrhea	OMIM:619484
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea	OMIM:612692
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Diarrhea, Malnutrition, Decreased body weight, Fat malabsorption	ORPHA:96180
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Large for gestational age, Diarrhea, Increased body weight, Renal Fanconi syndrome, ...	ORPHA:263455
Xfe Progeroid Syndrome	Renal insufficiency, Failure to thrive, Proteinuria, Cachexia	OMIM:610965
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Vomiting, Glome...	OMIM:223900
Familial Hypoaldosteronism	Nausea and vomiting, Decreased urinary potassium, Renal salt wasting, Diarrhea, Proximal renal tu...	ORPHA:427
Triokinase And Fmn Cyclase Deficiency Syndrome	Chronic diarrhea, Failure to thrive in infancy	OMIM:618805
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Duodenal stenosis	ORPHA:2547
Imerslund-Gräsbeck Syndrome	Proteinuria, Poor appetite, Weight loss, Constipation, Vomiting, Failure to thrive, Glossitis	ORPHA:35858
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Esophageal varix, Hepatocellular adenoma, Increased body weight, Renal tubular acidosis...	ORPHA:264580
Thoraco-Abdominal Enteric Duplication	Intestinal malrotation, Duodenal stenosis	ORPHA:1759
Alg9-Cdg	Villous atrophy, Ureteral hypoplasia, Diarrhea, Hydronephrosis, Gastroesophageal reflux, Vomiting...	ORPHA:79328
Paroxysmal Cold Hemoglobinuria	Nausea and vomiting, Abnormal urinary color, Diarrhea, Hemoglobinuria	ORPHA:90035
Lassa Fever	Nausea and vomiting, Abdominal pain, Diarrhea, Oliguria, Dysphagia	ORPHA:99824
Methanol Poisoning	Diarrhea, Vomiting, Abdominal pain	ORPHA:31825
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Weight loss, Episodic abdominal pain, Neoplasm of the l...	ORPHA:100085
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Abdominal pain, Weight loss	ORPHA:767
Anaplastic Thyroid Carcinoma	Weight loss, Tracheoesophageal fistula, Dysphagia	ORPHA:142
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Macroglossia, Chronic diarrhea	OMIM:618523
Immunodeficiency, Common Variable, 2	Diarrhea	OMIM:240500
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv...	ORPHA:2929
Malakoplakia	Proteinuria, Dysuria, Abdominal pain, Orchitis, Urinary bladder inflammation, Diarrhea, Neoplasm ...	ORPHA:556
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Feeding difficulties in infancy, Failure to thrive, Inflammation of the large intestine, Chronic ...	ORPHA:98813
Autosomal Dominant Epidermolytic Ichthyosis	Poor appetite, Weight loss	ORPHA:312
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Inflammation of ...	ORPHA:436159
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi...	ORPHA:90363
Shwachman-Diamond Syndrome 2	Diarrhea, High palate, Steatorrhea, Failure to thrive, Exocrine pancreatic insufficiency	OMIM:617941
Hereditary Fructose Intolerance	Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney disease, Cons...	ORPHA:469
Graft Versus Host Disease	Abdominal pain, Diarrhea, Gastrointestinal inflammation, Vomiting, Recurrent gastroenteritis, Sto...	ORPHA:39812
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Urethral stricture, Chronic diarrhea, Colitis, Failure to thrive in infancy	OMIM:301220
Boutonneuse Fever	Renal insufficiency, Diarrhea, Nausea, Abdominal pain	ORPHA:83313
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Dark urine, Renal insufficiency, Proteinuria, Abdomina...	ORPHA:93552
Schwartz-Jampel Syndrome	Cachexia, Feeding difficulties in infancy, Abnormality of the ureter, Nephrolithiasis, Cleft pala...	ORPHA:800
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Chronic diarrhea, Esophageal varix, Inflammation of the large intestin...	OMIM:614576
Huntington Disease-Like 2	Weight loss	OMIM:606438
Infantile Systemic Hyalinosis	Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Feeding difficulties,...	ORPHA:2176
B4Galt1-Cdg	Diarrhea, Small for gestational age	ORPHA:79332
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract neoplasm, Abdominal distention, Weight loss, Episodic abdominal pain, Nausea	ORPHA:100086
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea, Small for gestational age, Weight loss	ORPHA:424
Carcinoid Syndrome	Nausea and vomiting, Lack of bowel sounds, Episodic abdominal pain, Protracted diarrhea, Small in...	ORPHA:100093
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Diarrhea, Chronic diarrhea, Failure to thrive in infancy, Abdominal pain	OMIM:617099
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-u...	OMIM:619644
Dpm1-Cdg	High, narrow palate, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy	ORPHA:79322
Immunodeficiency 9	Stomatitis, Failure to thrive, Chronic diarrhea, Recurrent aphthous stomatitis	OMIM:612782
Fabry Disease	Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Tenesmus, Urinary mulberry cells, Vom...	OMIM:301500
Metachromatic Leukodystrophy	Urinary incontinence, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladde...	ORPHA:512
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Nausea and vomiting, Renal insufficiency, Abdominal pain, Peritoniti...	ORPHA:727
Developmental And Epileptic Encephalopathy 50	Failure to thrive, Diarrhea, Renal tubular acidosis, Dysphagia, Oroticaciduria	OMIM:616457
Turcot Syndrome With Polyposis	Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He...	ORPHA:99818
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Diarrhea, Recurrent aphthous stomatitis	OMIM:150550
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Malabsorption, Diarrhea, Bicarbonaturia, Bicarbonate-wasting renal tubular aci...	ORPHA:47159
Klatskin Tumor	Cholangiocarcinoma, Abdominal pain, Weight loss	ORPHA:99978
Erythrokeratodermia Variabilis	Abnormal testis morphology, Weight loss	ORPHA:317
Immunodeficiency, Common Variable, 7	Chronic diarrhea	OMIM:614699
Complement Component 5 Deficiency	Intractable diarrhea	OMIM:609536
Diarrhea 10, Protein-Losing Enteropathy Type	Polyuria, Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing ...	OMIM:618183
Castleman Disease	Abnormality of the gastrointestinal tract, Nausea and vomiting, Renal insufficiency, Intestinal o...	ORPHA:160
Carnitine Palmitoyltransferase I Deficiency	Renal tubular acidosis, Diarrhea, Dicarboxylic aciduria, Feeding difficulties	OMIM:255120
Distal Renal Tubular Acidosis	Hyperphosphaturia, Failure to thrive, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, R...	ORPHA:18
Houge-Janssens Syndrome 1	Pyloric stenosis, Chronic diarrhea	OMIM:616355
Infection-Related Hemolytic Uremic Syndrome	Anuria, Nausea, Abdominal pain, Intestinal perforation, Diarrhea, Secretory diarrhea, Oliguria, B...	ORPHA:544482
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Diarrhea, Hepatocellular adenoma, Increased body weight, Renal tubular acidosis, Vomiting, Hepato...	ORPHA:79240
Oculoskeletodental Syndrome	Small for gestational age, Cryptorchidism, Hypercalciuria, Macroglossia, Mucopolysacchariduria, P...	OMIM:618440
Polymyositis	Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Weight loss, Constipation, Gastroesophagea...	ORPHA:732
Autosomal Dominant Severe Congenital Neutropenia	Diarrhea, Recurrent infection of the gastrointestinal tract, Recurrent aphthous stomatitis, Abdom...	ORPHA:486
Car T Cell Therapy-Associated Cytokine Release Syndrome	Nausea, Poor appetite, Diarrhea, Vomiting, Acute kidney injury, Decreased urine output	ORPHA:542323
Serkal Syndrome	Abnormal penis morphology, Malrotation of small bowel, Hypospadias	ORPHA:139466
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content	OMIM:214700
Familial Mediterranean Fever	Abdominal pain, Orchitis, Diarrhea, Peritonitis, Stage 5 chronic kidney disease, Episodic abdomin...	OMIM:249100
Hyperzincemia With Functional Zinc Depletion	Diarrhea	OMIM:601979
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Nausea and vomiting, Dys...	ORPHA:537
Immunodeficiency, Common Variable, 1	Diarrhea	OMIM:607594
Specific Granule Deficiency 2	Intractable diarrhea, Failure to thrive	OMIM:617475
Cystic Fibrosis	Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Hypercalciuria, Steatorrhea, Failure to thrive,...	OMIM:219700
Immunodeficiency By Defective Expression Of Mhc Class Ii	Diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tract, Protracted diarrhea	ORPHA:572
Classic Hodgkin Lymphoma	Poor appetite, Anorexia, Weight loss	ORPHA:391
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Cryptorchidism, Abdominal distention, Cleft palate, High palate, Protein-losing enteropathy, Micr...	OMIM:235255
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Intestinal obstruction, Renal insufficiency, Proteinuria, Malabsorption, Abd...	ORPHA:183
19P13.13 Microdeletion Syndrome	Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult...	ORPHA:357001
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Chronic diarrhea	OMIM:619824
Transcobalamin Ii Deficiency	Diarrhea, Failure to thrive, Vomiting, Methylmalonic aciduria	OMIM:275350
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Esophageal stricture, Chronic diarrhea, Failure to thrive, Oral leukoplakia	OMIM:613989
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Horseshoe ki...	OMIM:115470
Caroli Disease	Cholangiocarcinoma, Anorexia, Abdominal pain, Esophageal varix, Weight loss, Abdominal rigidity, ...	ORPHA:53035
Mitochondrial Dna Depletion Syndrome 11	Chronic diarrhea, Nausea	OMIM:615084
Generalized Pseudohypoaldosteronism Type 1	Feeding difficulties in infancy, Vomiting, Failure to thrive in infancy, Weight loss	ORPHA:171876
Pemphigus Vulgaris	Feeding difficulties in infancy, Weight loss	ORPHA:704
Neuropathy, Hereditary Sensory And Autonomic, Type V	Diarrhea, Constipation, Urinary incontinence	OMIM:608654
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties	ORPHA:221098
Huntington Disease	Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia	ORPHA:399
Relapsing Fever	Abdominal pain, Diarrhea, Hematuria, Vomiting, Acute kidney injury	ORPHA:91547
Mucopolysaccharidosis, Type Iiic	Heparan sulfate excretion in urine, Diarrhea, Dysphagia	OMIM:252930
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Cryptorchidism, Feeding difficulties in infancy, Chronic diarrhea, Chronic constipati...	ORPHA:500055
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Dicarboxylic aciduria, Feeding difficulties in infancy, Diarrhea, Vomiting...	ORPHA:71212
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nephrocalcinosis, Atrophic gastritis, Diarrhea, Malabsorption	OMIM:240300
Takayasu Arteritis	Gastrointestinal infarctions, Anorexia, Weight loss	ORPHA:3287
Cholera	Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Vomiting, Abdominal cramp...	ORPHA:173
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Failure to thrive, Decreased testicular size, Poor appetite	OMIM:201100
Mirage Syndrome	Hypospadias, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Gastroesophageal reflux, Mic...	OMIM:617053
Addison Disease	Nausea and vomiting, Primary testicular failure, Anorexia, Decreased urinary potassium, Celiac di...	ORPHA:85138
Solitary Fibrous Tumor	Neoplasm of the liver, Urinary retention, Constipation, Weight loss	ORPHA:2126
Citrullinemia Type Ii	Diarrhea, Enuresis, Vomiting, Hepatocellular carcinoma, Decreased body mass index	ORPHA:247585
Combined Immunodeficiency Due To Zap70 Deficiency	Chronic diarrhea, Nephrotic syndrome, Colitis, Stomatitis, Failure to thrive, Recurrent infection...	ORPHA:911
Matthew-Wood Syndrome	Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Vesicoureteral reflux, Fai...	ORPHA:2470
Beta-Ketothiolase Deficiency	Ketonuria, Anorexia, Diarrhea, Weight loss, Vomiting	ORPHA:134
Holocarboxylase Synthetase Deficiency	Nausea and vomiting, Organic aciduria, Anorexia, Weight loss	ORPHA:79242
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Intellectual Developmental Disorder, Autosomal Dominant 57	Diarrhea, Feeding difficulties, Constipation, High palate, Intermittent diarrhea, Failure to thrive	OMIM:618050
Abetalipoproteinemia	Fat malabsorption	OMIM:200100
Systemic Mastocytosis With Associated Hematologic Neoplasm	Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Nausea	ORPHA:98849
Familial Gestational Hyperthyroidism	Diarrhea, Weight loss	ORPHA:99819
Congenital Disorder Of Glycosylation, Type Im	Diarrhea, Failure to thrive, Vomiting	OMIM:610768
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Poor appetite, Weight loss	ORPHA:324964
Tarp Syndrome	Failure to thrive, Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High palate, Hep...	OMIM:311900
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Feeding difficulties...	OMIM:608836
Focal Myositis	Weight loss	ORPHA:48918
Zygomycosis	Gastrointestinal hemorrhage, Renal insufficiency, Gastritis, Abdominal pain, Hematemesis, Diarrhe...	ORPHA:73263
Immunodeficiency 97 With Autoinflammation	Diarrhea, Colitis, Enterocolitis, Abdominal pain	OMIM:619802
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent...	ORPHA:2131
Middle Ear Neuroendocrine Tumor	Chronic diarrhea	ORPHA:100084
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Dysphagia	ORPHA:216866
Congenital Bile Acid Synthesis Defect Type 3	Fat malabsorption, Hepatic failure	ORPHA:79302
Igg4-Related Retroperitoneal Fibrosis	Nausea and vomiting, Renal insufficiency, Dysuria, Anorexia, Abdominal pain, Renovascular hyperte...	ORPHA:49041
Oromandibular Dystonia	Weight loss, Dysphagia	ORPHA:93958
Isolated Succinate-Coq Reductase Deficiency	Vesicoureteral reflux, Feeding difficulties in infancy, Weight loss	ORPHA:3208
Follicular Lymphoma	Weight loss	ORPHA:545
Tropical Pancreatitis	Malnutrition, Vomiting, Nausea, Weight loss	ORPHA:103918
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Esophageal varix, Feeding difficulties, Azoospermia, Gastric ulcer	ORPHA:2072
Vipoma	Nausea and vomiting, Anorexia, Malabsorption, Poor appetite, Secretory diarrhea, Weight loss, Hem...	ORPHA:97282
Carney Triad	Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro...	ORPHA:139411
Parathyroid Carcinoma	Nausea and vomiting, Renal insufficiency, Peptic ulcer, Renal hamartoma, Testicular neoplasm, Nep...	ORPHA:143
Bronchial Neuroendocrine Tumor	Bowel urgency, Poor appetite, Anorexia, Weight loss, Protracted diarrhea, Hepatic failure	ORPHA:97287
Hypocomplementemic Urticarial Vasculitis	Nausea and vomiting, Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Hematuria	ORPHA:36412
Young-Onset Parkinson Disease	Diarrhea, Constipation, Nausea, Gastroparesis	ORPHA:2828
Reactive Arthritis	Abdominal pain, Diarrhea, Weight loss, Inflammation of the large intestine, Recurrent aphthous st...	ORPHA:29207
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Immunodeficiency 22	Diarrhea, Failure to thrive, Protracted diarrhea	OMIM:615758
Acute Adrenal Insufficiency	Nausea and vomiting, Renal insufficiency, Anorexia, Decreased urinary potassium, Renal salt wasti...	ORPHA:95409
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:276621
Aromatic L-Amino Acid Decarboxylase Deficiency	Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea	OMIM:608643
Melas	Intestinal pseudo-obstruction, Proteinuria, Gastrointestinal dysmotility, Diarrhea, Focal segment...	ORPHA:550
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Diarrhea	OMIM:252920
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Gast...	ORPHA:85443
T-Cell Immunodeficiency With Thymic Aplasia	Diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tract, Malabsorption	ORPHA:83471
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Failure to thrive, Intestinal obstruction, Chronic diarrhea	OMIM:600802
Mucopolysaccharidosis, Type Ii	Intestinal pseudo-obstruction, Heparan sulfate excretion in urine, Diarrhea, Dermatan sulfate exc...	OMIM:309900
Combined Immunodeficiency-Enteropathy Spectrum	Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Gastrointestinal atresia, B...	ORPHA:436252
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Agammaglobulinemia 1, Autosomal Recessive	Failure to thrive, Chronic diarrhea, Rectal abscess	OMIM:601495
Amyloidosis, Hereditary, Transthyretin-Related	Episodic vomiting, Diarrhea, Constipation, Urinary incontinence	OMIM:105210
Isolated Biliary Atresia	Small for gestational age, Dark yellow urine, Acholic stools, Decreased liver function, Severe fa...	ORPHA:30391
Legionnaires Disease	Nausea and vomiting, Renal insufficiency, Proteinuria, Anorexia, Abdominal pain, Diarrhea, Hematuria	ORPHA:549
Mevalonic Aciduria	Failure to thrive in infancy, Diarrhea, Vomiting, Failure to thrive, Elevated urine mevalonic aci...	OMIM:610377
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Cryptorchidism, Abdominal distention, High palate, Protein-losing enteropathy, Micropenis, Hepati...	ORPHA:1655
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Diarrhea	OMIM:252900
Lysinuric Protein Intolerance	Failure to thrive, Protein avoidance, Diarrhea, Malnutrition, Stage 5 chronic kidney disease, Tru...	OMIM:222700
Immunodeficiency 58	Helicobacter pylori infection, Dysuria, Chronic diarrhea, Colitis, Recurrent aphthous stomatitis,...	OMIM:618131
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Diarrhea, Hematuria, Vomiting, Nausea	ORPHA:324636
Seckel Syndrome	Cachexia	ORPHA:808
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Renal insufficiency, Anorexia, Malabsorption, Diarrhea	ORPHA:33226
Cholestasis, Progressive Familial Intrahepatic, 9	Diarrhea	OMIM:619849
Perry Syndrome	Weight loss	ORPHA:178509
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Oroticaciduria, Chronic diarrhea, Feeding difficulties, Dysphagia, Failure to thrive	OMIM:620358
Stickler Syndrome	Slender build, Cachexia, Feeding difficulties in infancy, Cleft palate, Macroglossia, Glossoptosi...	ORPHA:828
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Abdominal pain, Chronic diarrhea, Hematochezia, Inflammation of the large intestine, Vesicoureter...	OMIM:615895
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Pediatric-Onset Graves Disease	Nausea and vomiting, Diarrhea, Failure to thrive	ORPHA:525731
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Abdominal pain, Orchitis, Peritonitis, Diarrhea, Vomiting, Constipation	ORPHA:32960
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Cryptorchidism, Rectal prolapse, Narrow palate, Horseshoe kidney, Protein-losing ...	OMIM:235510
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv...	ORPHA:210122
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Failure to thrive in infancy, Diarrhea, Urinary retention, Recurrent gastroenteritis, Chronic hep...	ORPHA:79124
Lujo Hemorrhagic Fever	Renal insufficiency, Odynophagia, Diarrhea, Fulminant hepatitis, Oliguria, Vomiting, Abdominal cr...	ORPHA:319213
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Anorexia, Reye syndrome-like episodes, Diarrhea, Weight loss, 3-Methylglutaric aciduri...	ORPHA:20
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Bloody diarrhea, Hematochezia, Inflammation of the large intestine, Colonic eosinophilia, Failure...	OMIM:617718
Camurati-Engelmann Disease	Cachexia, Anorexia, Feeding difficulties in infancy, Urinary retention, Slender build	ORPHA:1328
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Abdominal pain, Hematemesis, Diarrhea, Chronic kidney di...	ORPHA:340
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology	ORPHA:2847
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Hypospadias, Small for gestational age, Nasogastric tu...	ORPHA:1708
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis, Nephrocalcinosi...	ORPHA:79259
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Failure to thrive in infancy, Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal...	OMIM:613385
Chronic Graft Versus Host Disease	Anorexia, Phimosis, Abdominal pain, Urinary bladder inflammation, Esophageal stricture, Diarrhea,...	ORPHA:99921
Avian Influenza	Diarrhea, Acute kidney injury, Vomiting, Abdominal pain	ORPHA:454836
Musculocontractural Ehlers-Danlos Syndrome	Cryptorchidism, Malrotation of small bowel, Functional abnormality of the bladder, Nephrolithiasi...	ORPHA:2953
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Chronic diarrhea, Small for gestational age, Malabsorption	OMIM:601675
Multiple Endocrine Neoplasia, Type I	Diarrhea, Zollinger-Ellison syndrome, Peptic ulcer, Esophagitis	OMIM:131100
Omenn Syndrome	Nephrotic syndrome, Failure to thrive, Chronic diarrhea	ORPHA:39041
Fructose-1,6-Bisphosphatase Deficiency	Reye syndrome-like episodes, Diarrhea, Increased urinary glycerol, Vomiting	ORPHA:348
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diarrhea, Vomiting	ORPHA:3240
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Abdominal pain, Weight loss	ORPHA:33577
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Nephrolithiasis, H...	ORPHA:652
Thymoma	Neoplasm of the gastrointestinal tract, Glomerulonephritis, Ulcerative colitis, Weight loss	ORPHA:99867
Serotonin Syndrome	Diarrhea, Acute kidney injury, Nausea, Hepatic failure	ORPHA:43116
Renal Nutcracker Syndrome	Proteinuria, Abdominal pain, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria...	ORPHA:71273
Biotinidase Deficiency	Feeding difficulties in infancy, Diarrhea, Organic aciduria, Vomiting	OMIM:253260
Immunodeficiency, Common Variable, 14	Chronic diarrhea	OMIM:617765
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper...	OMIM:618213
Glycogen Storage Disease Ia	Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Protuberant abdomen, Hepatocell...	OMIM:232200
Malt Lymphoma	Nausea and vomiting, Abdominal pain, Constipation, Weight loss	ORPHA:52417
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hematemesis, Diarrhea, Bloody diarrhea, Hematochezia, Nephrotic syndrome, Wei...	OMIM:615846
Leishmaniasis	Anorexia, Weight loss	ORPHA:507
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased urinary pota...	OMIM:601678
Scedosporiosis	Abnormal jejunum morphology	ORPHA:449280
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Failure to thrive	OMIM:620233
Immunodeficiency 59 And Hypoglycemia	Chronic diarrhea, High palate, Recurrent aphthous stomatitis, Malabsorption	OMIM:233600
Gm1 Gangliosidosis	Weight loss, Feeding difficulties, Macroglossia, Gastroesophageal reflux, Dysphagia, Failure to t...	ORPHA:354
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Elevated urinary catecholamine level, Elevated urinary norepinephrine leve...	ORPHA:653
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Reye syndrome-like episodes, Diarrhea, Abdominal distention, Hepatic failu...	OMIM:256810
Hereditary Late-Onset Parkinson Disease	Chronic constipation, Weight loss, Spastic/hyperactive bladder, Dysphagia	ORPHA:411602
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Weight loss	ORPHA:3226
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Memb...	ORPHA:91139
Marfan Syndrome	High, narrow palate, Cachexia, Slender build, Cleft palate	ORPHA:558
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Bloody diarrhea, Hematochezia, ...	ORPHA:464321
Acute Radiation Syndrome	Diarrhea, Vomiting	ORPHA:454831
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Weight loss	ORPHA:2902
Hyper-Igd Syndrome	Abdominal pain, Diarrhea, Chronic diarrhea, Vomiting, Renal angiomyolipoma, Elevated urine mevalo...	OMIM:260920
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Glomerulonephritis, Abdominal pain, Diarrhea, Peritonitis, Vomiting, Nausea	ORPHA:36234
Omenn Syndrome	Diarrhea, Failure to thrive	OMIM:603554
Dominant Beta-Thalassemia	Diarrhea, Feeding difficulties, Failure to thrive in infancy, Hepatocellular carcinoma	ORPHA:231226
Lysinuric Protein Intolerance	Failure to thrive, Proteinuria, Glomerulonephritis, Ornithinuria, Diarrhea, Argininuria, Hepatic ...	ORPHA:470
Immunodeficiency With Hyper-Igm, Type 1	Stomatitis, Diarrhea, Failure to thrive	OMIM:308230
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Chronic diarrhea	OMIM:242700
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Tarp Syndrome	Failure to thrive, Cryptorchidism, Cleft palate, Horseshoe kidney, Glossoptosis, Abnormal duodenu...	ORPHA:2886
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Abdominal pain, Weight loss, Hepatocellular carcinoma, Testicular atrophy, Ch...	ORPHA:465508
Trichothiodystrophy 5, Nonphotosensitive	Micropenis, Chronic diarrhea, Decreased testicular size	OMIM:300953
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Diarrhea, Failure to thrive	ORPHA:276
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Wilson Disease	Acute hepatic failure, Failure to thrive, Increased body weight, Weight loss	ORPHA:905
Rat-Bite Fever	Diarrhea, Vomiting, Parotitis, Weight loss	ORPHA:31205
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:29072
Immunodeficiency 92	Chronic diarrhea, Esophagitis	OMIM:619652
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Diarrhea, Episodic vomiting, Vomiting	OMIM:618321
Bullous Pemphigoid	Weight loss	ORPHA:703
Giant Cell Arteritis	Renal insufficiency, Anorexia, Abdominal pain, Weight loss, Hematuria, Gastrointestinal infarctio...	ORPHA:397
Acute Monoblastic/Monocytic Leukemia	Oliguria, Anorexia, Weight loss	ORPHA:514
Osteosarcoma	Weight loss	ORPHA:668
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Reduced renal corticomedullary differentiation, ...	ORPHA:731
Thymic Carcinoma	Weight loss	ORPHA:99868
Meier-Gorlin Syndrome 7	Urethral stricture, Anal stenosis, Hypospadias, Cryptorchidism, Cleft palate, Duodenal stenosis, ...	OMIM:617063
Cryptogenic Organizing Pneumonia	Anorexia, Weight loss	ORPHA:1302
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Anorexia, Malabsorption, Abdominal pain, Weight...	ORPHA:79430
Acute Promyelocytic Leukemia	Anorexia, Abdominal pain, Weight loss, Hematuria, Stomatitis	ORPHA:520
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Failure to thrive, Diarrhea, Chronic diarrhea	OMIM:102700
Dopamine Beta-Hydroxylase Deficiency	Diarrhea, Elevated urinary dopamine level, Vomiting, Nocturia	ORPHA:230
Deeah Syndrome	Malabsorption, Cryptorchidism, Chronic diarrhea, Narrow palate, Chronic constipation, High palate...	OMIM:619004
Sapho Syndrome	Malabsorption, Abdominal pain, Chronic diarrhea, Inflammation of the large intestine, Steatorrhea	ORPHA:793
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased urinary pota...	OMIM:241200
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria, Cryptorchidism, Diarrhea, Failure to thrive	ORPHA:90321
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Hematur...	ORPHA:90068
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Chronic diarrhea	ORPHA:169154
Colchicine Poisoning	Renal insufficiency, Diarrhea, Oliguria, Vomiting, Nausea	ORPHA:31824
Good Syndrome	Diarrhea, Dysphagia	ORPHA:169105
Congenital Tracheal Stenosis	Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophageal fistula, Duodenal steno...	ORPHA:141127
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Rothmund-Thomson Syndrome Type 2	Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of the gastrointestin...	ORPHA:221016
Mucopolysaccharidosis, Type Iiid	Heparan sulfate excretion in urine, Diarrhea, Dysphagia, Macroglossia, Tube feeding	OMIM:252940
Trichohepatoneurodevelopmental Syndrome	Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophageal reflux, High palate, Decre...	OMIM:618268
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Pyloric stenosis, Submucous cleft hard palate, High palate, Chronic diarrhea	ORPHA:457279
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Diarrhea, Gastroesophageal reflux, Unilateral renal agenesis, Nasogastric tube feeding	ORPHA:221139
Aicardi-Goutieres Syndrome 9	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Weight loss, Feeding difficulti...	OMIM:619487
Rothmund-Thomson Syndrome Type 1	Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of the gastrointestin...	ORPHA:221008
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Anorexia, Abdominal distention, Episodic abdominal pain, Weight loss	ORPHA:370348
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Cryptorchidism, Chronic diarrhea, Chronic constipation, High palate, Decreased body weight, Micro...	OMIM:619005
Beta-Thalassemia Major	Diarrhea, Feeding difficulties, Failure to thrive in infancy, Hepatocellular carcinoma	ORPHA:231214
Nijmegen Breakage Syndrome	Anal stenosis, Diarrhea, Cleft palate, Recurrent infection of the gastrointestinal tract, Hydrone...	OMIM:251260
Dextrocardia	Meckel diverticulum, Abnormality of the ureter, Intestinal malrotation	ORPHA:1666
Sandhoff Disease	Macroglossia, Chronic diarrhea, Urinary incontinence, Episodic abdominal pain	OMIM:268800
Immunodeficiency 25	Protracted diarrhea	OMIM:610163
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Polycythemia Vera	Gastrointestinal hemorrhage, Abdominal pain, Weight loss	ORPHA:729
Chronic Beryllium Disease	Weight loss	ORPHA:133
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Abdominal pain, Weight loss, Constipation, Dysphagia	ORPHA:93672
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Diarrhea	OMIM:619313
Leukocyte Adhesion Deficiency, Type I	Chronic diarrhea, Rectal abscess	OMIM:116920
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hemolytic-uremic syndrome, Diarrhea, Anuria, Acute kidney injury	OMIM:235400
Abetalipoproteinemia	Chronic diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive	ORPHA:14
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hypoplasia of the small intestine, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Riddle Syndrome	Abdominal pain, Diarrhea, Weight loss, Enuresis nocturna	ORPHA:420741
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Primary Sclerosing Cholangitis	Acute hepatic failure, Cholangiocarcinoma, Renal insufficiency, Abnormal large intestine physiolo...	ORPHA:171
Congenital Disorder Of Glycosylation, Type It	Chronic diarrhea, Cleft palate, Bifid uvula, Vomiting, Hydronephrosis	OMIM:614921
Fryns Syndrome	Ureteral duplication, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Large for gesta...	OMIM:229850
Adrenocortical Carcinoma	Increased urinary cortisol level, Abdominal pain, Increased body weight, Weight loss, Abnormality...	ORPHA:1501
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Secretory diarrhea	OMIM:614441
Neonatal Inflammatory Skin And Bowel Disease	Recurrent gastroenteritis, Anal fissure, Perianal dermatitis, Bloody diarrhea	ORPHA:294023
8P23.1 Microdeletion Syndrome	Hypospadias, Cryptorchidism, Obesity, Weight loss, High palate	ORPHA:251071
Multiple Endocrine Neoplasia Type 4	Increased urinary cortisol level, Peptic ulcer, Testicular neoplasm, Diarrhea, Episodic abdominal...	ORPHA:276152
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, Nephrotic syndrome, High pal...	OMIM:601776
Cystic Echinococcosis	Abdominal symptom, Abnormality of the testis size, Renal cyst, Weight loss, Membranous nephropathy	ORPHA:400
Whim Syndrome	Abnormal small intestine morphology, Parotitis	ORPHA:51636
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Weight loss	ORPHA:90060
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, ...	OMIM:265380
Mucoepithelial Dysplasia, Hereditary	Melena, Chronic diarrhea, Hematuria, Furrowed tongue	OMIM:158310
Cerebrotendinous Xanthomatosis	Pseudobulbar paralysis, Diarrhea	OMIM:213700
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Renal insufficiency, Weight loss, Tubulointerstitial nephritis, Nephrotic ...	ORPHA:139402
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent infection of the gastrointestinal tract, Chronic diarrhea, Rectovaginal fistula, Failur...	ORPHA:35078
Wiskott-Aldrich Syndrome	Hematemesis, Diarrhea, Chronic diarrhea, Ulcerative colitis, Melena, Inflammation of the large in...	OMIM:301000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Increased urinary glycerol, Ketonuria, Failure to thrive in infancy,...	ORPHA:247598
Gitelman Syndrome	Nausea and vomiting, Proteinuria, Urinary incontinence, Decreased urinary potassium, Abdominal pa...	ORPHA:358
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Secretory diarrhea, Elevated urinary prostaglandin E2 level	OMIM:167100
Omphalocele Syndrome, Shprintzen-Goldberg Type	Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia	ORPHA:3164
Dubowitz Syndrome	Anal stenosis, Hypospadias, Malabsorption, Cryptorchidism, Rectal prolapse, Submucous cleft hard ...	ORPHA:235
Liver Disease, Severe Congenital	Chronic gastritis, Hypospadias, Abdominal distention, Diarrhea, Peritonitis, Dependency on parent...	OMIM:619991
Short Syndrome	Poor appetite, Weight loss	ORPHA:3163
Japanese Encephalitis	Diarrhea, Vomiting, Anorexia, Abdominal pain	ORPHA:79139
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Abnormal tongue morphology, Chronic diarrhea, Anoperineal fistula, Failure to...	ORPHA:158668
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Farber Disease	Failure to thrive, Chronic diarrhea, Hepatic failure, Feeding difficulties	ORPHA:333
Idiopathic Hypereosinophilic Syndrome	Malabsorption, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, Chronic dia...	ORPHA:3260
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Gastroparesis, Weight loss, Intestinal pseudo-obstruction, Dysphagia	OMIM:607459
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Chronic diarrhea	OMIM:602450
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Failure to thrive, Protracted diarrhea	ORPHA:331206
Rothmund-Thomson Syndrome	Small for gestational age, Nasogastric tube feeding in infancy, Diarrhea, Vomiting	ORPHA:2909
Proteus Syndrome	Cachexia, Testicular neoplasm, Long penis, Renal cyst, Macroorchidism	ORPHA:744
Trisomy 8P	Cryptorchidism, Malrotation of small bowel, Cleft palate, Nephrocalcinosis, Hydronephrosis, Const...	ORPHA:264450
Fanconi Anemia	Renal insufficiency, Hydroureter, Aganglionic megacolon, Hypospadias, Abnormal preputium morpholo...	ORPHA:84
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Weight loss	ORPHA:97289
Pearson Syndrome	Renal insufficiency, Median cleft lip and palate, Proteinuria, Small for gestational age, Chronic...	ORPHA:699
Dubowitz Syndrome	Hypospadias, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insufficiency, Submu...	OMIM:223370
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Chronic diarrhea, Recurrent infection of the gastrointestinal tract	OMIM:612132
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Feeding difficulties in infancy, Chronic diarrhea, Submucous...	OMIM:617140
Plague	Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis, Bloody diarrhea, Inflammation of ...	ORPHA:707
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Cryptorchidism, Chronic diarrhea, Episodic vomiting, Obesity, Enuresis noctu...	OMIM:615873
Perry Syndrome	Weight loss	OMIM:168605
Alveolar Echinococcosis	Abdominal pain, Renal cyst, Weight loss, Vomiting, Decreased liver function	ORPHA:284
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Nausea and vomiting, Renal insufficiency, Intestinal obstruction, Ur...	ORPHA:900
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, ...	ORPHA:95455
Shwachman-Diamond Syndrome	Abnormality of the gastrointestinal tract, Malnutrition, Steatorrhea, Fat malabsorption, Failure ...	ORPHA:811
Rheumatoid Arthritis	Weight loss	OMIM:180300
Leukocyte Adhesion Deficiency Type Ii	Small for gestational age, Protruding tongue, Chronic diarrhea, Narrow palate, Recurrent gastroen...	ORPHA:99843
Brucellosis	Abnormality of the gastrointestinal tract, Small for gestational age, Glomerulonephritis, Anorexi...	ORPHA:1304
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Failure to thrive in infancy, Oral...	OMIM:219800
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Small for gestational age, Intestinal malrotation, Feeding difficulties, In...	ORPHA:2255
Marburg Hemorrhagic Fever	Abnormality of the gastrointestinal tract, Renal insufficiency, Anorexia, Abdominal pain, Orchiti...	ORPHA:99826
Loeffler Endocarditis	Weight loss	ORPHA:75566
Ogden Syndrome	Tube feeding, Global glomerulosclerosis, Cryptorchidism, Diarrhea, Narrow palate, Feeding difficu...	OMIM:300855
Multiple Myeloma	Functional abnormality of the gastrointestinal tract, Weight loss, Nephrotic syndrome, Nephropath...	ORPHA:29073
Behçet Disease	Gastrointestinal hemorrhage, Nausea and vomiting, Renal insufficiency, Anorexia, Malabsorption, O...	ORPHA:117
Kawasaki Disease	Nausea and vomiting, Proteinuria, Abdominal pain, Diarrhea, Sterile pyuria, Glossitis	ORPHA:2331
Mucopolysaccharidosis Type 3	Malabsorption, Heparan sulfate excretion in urine, Macroglossia, Mucopolysacchariduria, Constipat...	ORPHA:581
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Fraser Syndrome 1	Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Renal hypoplasia, Cleft palate,...	OMIM:219000
Listeriosis	Abdominal pain, Diarrhea, Peritonitis, Pyelonephritis, Vomiting, Acute kidney injury, Nausea	ORPHA:533
Lymphoid Interstitial Pneumonia	Failure to thrive, Enlarged kidney, Weight loss	ORPHA:79128
Postinfectious Vasculitis	Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Anorexia, Abdominal pa...	ORPHA:48435
Lipodystrophy, Familial Partial, Type 7	Small for gestational age, Polyuria, Diarrhea, Feeding difficulties, Vomiting, Dysphagia, Failure...	OMIM:606721
Congenital Fiber-Type Disproportion Myopathy	Poor appetite, Nasogastric tube feeding in infancy, Weight loss, Feeding difficulties, High palat...	ORPHA:2020
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Diarrhea, Failure to thrive, Feeding difficulties	OMIM:618278
Diamond-Blackfan Anemia 21	Chronic diarrhea, Obesity	OMIM:620072
Tropical Endomyocardial Fibrosis	Malnutrition, Cachexia	ORPHA:75565
Immunodeficiency 36 With Lymphoproliferation	Chronic diarrhea	OMIM:616005
Erdheim-Chester Disease	Nausea and vomiting, Renal insufficiency, Dysuria, Abdominal pain, Weight loss, Hydronephrosis	ORPHA:35687
Felty Syndrome	Weight loss	ORPHA:47612
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Abnormality of the tongue muscle, Nasog...	ORPHA:273
Thyrotoxic Periodic Paralysis	Decreased urinary potassium, Obesity, Weight loss, Urinary retention, Constipation	ORPHA:79102
Hurler Syndrome	Macroglossia, Mucopolysacchariduria, Chronic diarrhea, Feeding difficulties	ORPHA:93473
Insulin-Resistance Syndrome Type B	Proteinuria, Abnormality of body weight, Increased body weight, Weight loss, Glycosuria, Abnormal...	ORPHA:2298
Norrie Disease	Cryptorchidism, Failure to thrive, Cachexia	ORPHA:649
Selective Igm Deficiency	Stomach cancer, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Crohn's disease	ORPHA:331235
Pneumocystosis	Weight loss	ORPHA:723
Yellow Fever	Renal insufficiency, Anuria, Abdominal pain, Hematemesis, Diarrhea, Vomiting, Acute kidney injury...	ORPHA:99829
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Diarrhea	OMIM:307200
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Abdominal pain, Urinary bladder inflammation, Chronic kidney di...	ORPHA:449395
Occipital Horn Syndrome	Ureteral obstruction, Hiatus hernia, Chronic diarrhea, Bladder diverticulum, High palate, Hydrone...	OMIM:304150
Crimean-Congo Hemorrhagic Fever	Nausea and vomiting, Proteinuria, Anorexia, Abdominal pain, Hematemesis, Orchitis, Diarrhea, Mele...	ORPHA:99827
Viss Syndrome	Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ...	OMIM:619472
Immunodeficiency 55	Diarrhea	OMIM:617827
Immunodeficiency 47	Failure to thrive, Chronic diarrhea, Exocrine pancreatic insufficiency	OMIM:300972
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Pyelonephritis, Feeding difficulties, Bladder diverticulum, Vomiting, ...	ORPHA:90348
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Increased urinary cortisol level, Neoplasm of the stomac...	ORPHA:99889
Autosomal Recessive Cutis Laxa Type 1	Pyloric stenosis, Pyelonephritis, Urethral diverticulum, Multiple bladder diverticula, Small bowe...	ORPHA:90349
Acute Liver Failure	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Acute kidney injury, Nausea	ORPHA:90062
Oculopharyngodistal Myopathy 1	Weight loss, High palate, Dysphagia	OMIM:164310
Pyomyositis	Renal insufficiency, Weight loss, Testicular teratoma	ORPHA:764
Scorpion Envenomation	Ketonuria, Abdominal pain, Diarrhea, Vomiting, Glycosuria, Acute kidney injury	ORPHA:466677
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Wiskott-Aldrich Syndrome	Hematemesis, Chronic diarrhea, Hematochezia, Inflammation of the large intestine, Nephropathy	ORPHA:906
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Genitopatellar Syndrome	Anal stenosis, Multicystic kidney dysplasia, Cryptorchidism, Malrotation of small bowel, Feeding ...	OMIM:606170
Anemia, Congenital Dyserythropoietic, Type Iv	Micropenis, Hypospadias, Weight loss	OMIM:613673
Sarcoidosis, Susceptibility To, 1	Anorexia, Hypercalciuria, Weight loss, Inflammation of the large intestine, Abnormal salivary gla...	OMIM:181000
Q Fever	Hematuria, Anorexia, Weight loss	ORPHA:781
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Weight loss, Renal tubular dysfunction, Glycosuria, Moderate albumi...	ORPHA:99885
Ataxia-Telangiectasia	Failure to thrive, Chronic diarrhea	OMIM:208900
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Cleft palate, Horseshoe kidney, Vesicoureteral reflux, Meckel diverticulum	OMIM:274000
Poems Syndrome	Weight loss	ORPHA:2905
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Long penis, Testicular adrenal rest tumor, Elevated urinary epinephrine level...	ORPHA:90794
Agammaglobulinemia, X-Linked	Chronic diarrhea, Hepatocellular carcinoma	OMIM:300755
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastroparesis, Failure to thrive in infancy, Unilateral renal agenesis, Feeding difficulties in i...	ORPHA:500150
Wolf-Hirschhorn Syndrome	Hypospadias, Small for gestational age, Cryptorchidism, Malrotation of small bowel, Cleft palate,...	OMIM:194190
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Weight loss, Enlargement of parotid gland, Tubulointerstitial nephritis, Abnormal sal...	ORPHA:79078
Mucolipidosis Type Ii	Gastrostomy tube feeding in infancy, Protuberant abdomen, Weight loss	ORPHA:576
African Trypanosomiasis	Renal insufficiency, Urinary incontinence, Diarrhea, Weight loss, Vomiting, Nausea	ORPHA:3385
Chikungunya	Diarrhea, Vomiting	ORPHA:324625
Leptospirosis	Nausea and vomiting, Anorexia, Abdominal pain, Cellular urinary casts, Diarrhea, Acute kidney injury	ORPHA:509
Nocardiosis	Peritonitis, Vomiting, Anorexia, Weight loss	ORPHA:31204
Tsh-Secreting Pituitary Adenoma	Nausea and vomiting, Vomiting, Weight loss	ORPHA:91347
Dermatomyositis	Gastrointestinal stroma tumor, Feeding difficulties in infancy, Weight loss	ORPHA:221
Familial Thrombocytosis	Weight loss	ORPHA:71493
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Tubulointerstitial Nephritis And Uveitis Syndrome	Anorexia, Abdominal pain, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglobulin...	ORPHA:91500
Nmda Receptor Encephalitis	Diarrhea, Vomiting, Testicular teratoma	ORPHA:217253
Kikuchi-Fujimoto Disease	Enlargement of parotid gland, Abnormality of the gastrointestinal tract, Anorexia, Weight loss	ORPHA:50918
Sarcoidosis	Abnormality of the gastrointestinal tract, Renal insufficiency, Nephrolithiasis, Hypercalciuria, ...	ORPHA:797
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft pala...	OMIM:312870
Mucopolysaccharidosis Type 2, Severe Form	Heparan sulfate excretion in urine, Macroglossia, Chronic diarrhea, Dermatan sulfate excretion in...	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Heparan sulfate excretion in urine, Macroglossia, Chronic diarrhea, Dermatan sulfate excretion in...	ORPHA:217093
Aspartylglucosaminuria	Macroorchidism, Macroglossia, Diarrhea, Aspartylglucosaminuria	OMIM:208400
Pulmonary Alveolar Microlithiasis	Hematuria, Calcium nephrolithiasis, Testicular microlithiasis, Weight loss	ORPHA:60025
Cerebrotendinous Xanthomatosis	Chronic diarrhea	ORPHA:909
Mucopolysaccharidosis Type 2	Macroglossia, Chronic diarrhea	ORPHA:580
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Choreoacanthocytosis	Weight loss, Dysphagia, Protruding tongue	ORPHA:2388
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, High palate, Ankyloglossia, Weight loss	ORPHA:740
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Macroscopic hemat...	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.

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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
Rab8a^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Rab8a^em1(IMPC)J	Exon Deletion	Mice
Rab8a^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Rab8a MGI:96960

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Rab8a mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data