Gene Summary

Name:
RAB8A, member RAS oncogene family
Synonyms:
Mel

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Rab8aem1(IMPC)J HET Early adult 2.07×10-07
decreased lean body mass Rab8aem1(IMPC)J HET Early adult 3.27×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Rab8a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rab8a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level, Abdominal pain, Lactose intolerance, Flatulence,... OMIM:223100
Diarrhea 9
Failure to thrive, Diarrhea, Villous atrophy OMIM:618168
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Small for gestational age, Villous atrophy OMIM:613217
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Protracted diarrhea, Abnormal intestine morphology, Malnutrition, Villous atrophy OMIM:251850
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Villous atrophy, Protein-losing enteropathy, Diarrhea, Vomiting OMIM:615863
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Constipation, Gastrointestinal dysmotility, Abdominal pain, Abdominal distention, ... OMIM:613662
Diarrhea 12, With Microvillus Atrophy
Microvillus inclusions, Microvillar PAS-positive secretory granules, Abdominal distention, Depend... OMIM:619445
Trehalase Deficiency
Abdominal pain, Abdominal distention, Malabsorption, Diarrhea, Vomiting ORPHA:103909
Chronic Diarrhea Due To Glucoamylase Deficiency
Nausea, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphol... ORPHA:103907
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Chronic diarrhea, Failure to thrive, Increased fecal bile acid, Steatorrhea OMIM:613291
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Feeding difficulties in infancy, Renal tubular dysfunction, Failure to... OMIM:606528
Sucrase-Isomaltase Deficiency, Congenital
Malabsorption, Abdominal pain, Diarrhea, Nephrolithiasis OMIM:222900
Trehalase Deficiency
Abdominal pain, Diarrhea OMIM:612119
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Pancolitis, Chronic diarrhea, Abdominal pain, Ileitis, Abnormal intestine morpho... OMIM:619079
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Obesity, Dysphagia, Abnormal intestine morphology, ... ORPHA:70482
Inflammatory Bowel Disease 11
Hematochezia, Weight loss, Inflammation of the large intestine, Abdominal pain, Diarrhea OMIM:191390
Immunodeficiency 19
Failure to thrive, Diarrhea OMIM:615617
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level, Lactose intolerance, Diarrhea OMIM:223000
Congenital Short Bowel Syndrome
Abnormal peristalsis, Decreased intestinal transit time, Vomiting, Intestinal malrotation, Chroni... OMIM:615237
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
5-Oxoprolinase Deficiency
Increased level of L-pyroglutamic acid in urine, Vomiting, Prolinuria, Abdominal pain, Enterocoli... OMIM:260005
Cap Polyposis
Colorectal polyposis, Hematochezia, Constipation, Abdominal pain, Abdominal distention, Diarrhea,... ORPHA:160148
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Constipation, Aganglionic megacolon, Abnormality of the small intes... ORPHA:95427
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal perforation, Intermittent diarrhea, Slender build, Constipation, Gastrointestinal dysm... OMIM:603041
Solitary Rectal Ulcer Syndrome
Hematochezia, Bloody diarrhea, Decreased body weight, Intermittent diarrhea, Bloody mucoid diarrh... ORPHA:209964
Diarrhea 6
Abdominal pain, Diarrhea OMIM:614616
Hirschsprung Disease
Intestinal polyposis, Failure to thrive in infancy, Constipation, Aganglionic megacolon, Nausea a... ORPHA:388
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Recurrent aphthous stomatitis, Inflammation of the large intestine, Abdominal pa... OMIM:266600
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Esophageal neoplasm, Gastrointestinal hemorrhage, Gastroesophageal reflux, Nausea and ... ORPHA:2198
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Abnormal small intestinal mucosa morphology, Chronic... ORPHA:92050
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Feeding difficulties, Aminoaciduria, Failure to thrive, Cachexia, Weight loss OMIM:612075
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Gastroparesis, Abdominal distention, Abnormal gastric ... ORPHA:1876
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Diarrhea, Vomiting ORPHA:35122
Proprotein Convertase 1/3 Deficiency
Malabsorption, Obesity, Diarrhea, Villous atrophy OMIM:600955
Atresia Of Small Intestine
Intestinal hypoplasia, Intestinal malrotation, Feeding difficulties, Jejunal atresia, Failure to ... ORPHA:1201
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Abnormal intestine morphology, Diarrhea OMIM:618495
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Angioedema, Hereditary, 8
Abdominal pain, Episodic vomiting, Diarrhea OMIM:619367
Microvillus Inclusion Disease
Nephrocalcinosis, Abdominal distention, Abnormal renal physiology, Villous atrophy, Abnormality o... ORPHA:2290
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Gastrointestinal carcinoma, Anorexia, Hamartomatous polyposis, Abdominal pain, Mala... OMIM:175500
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Failure to thrive, Protein-losing enteropathy, Villous atrophy, Diarrhea, Vomiting OMIM:602579
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss, Abdominal distention, Protein-losing enteropathy, Diarrhea ORPHA:103910
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Weight loss ORPHA:52416
Ménétrier Disease
Nausea, Weight loss, Gastrointestinal hemorrhage, Giant hypertrophic gastritis, Helicobacter pylo... ORPHA:2494
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Nausea, Abnormality of the gastrointestinal tract, Gastrointestinal... ORPHA:298
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Diarrhea, Vomiting OMIM:610370
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Immunodeficiency 31C
Abnormal intestine morphology, Diarrhea, Villous atrophy OMIM:614162
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Colon cancer, Anorexia, Hamartomatous polyposis, Abdominal pain, Furr... ORPHA:2930
Wolman Disease
Hepatic failure, Esophageal varix, Nausea and vomiting, Abdominal distention, Malnutrition, Cache... ORPHA:75233
Idiopathic Achalasia
Malnutrition, Gastroesophageal reflux, Dysphagia, Weight loss ORPHA:930
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Methylmalonic aciduria, Diarrhea, Vomiting OMIM:614265
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea OMIM:614102
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Failure to thrive, Duodenitis, Villous atrophy OMIM:614328
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Malabsorption, Cachexia, Duodenal ulcer, Steatorrhea ORPHA:3217
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Glucose/Galactose Malabsorption
Glycosuria, Chronic diarrhea, Hyperactive bowel sounds, Failure to thrive, Abdominal distention, ... OMIM:606824
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Immunodeficiency 48
Failure to thrive, Diarrhea OMIM:269840
Chylomicron Retention Disease
Failure to thrive, Malnutrition, Diarrhea, Steatorrhea, Vomiting OMIM:246700
Pseudomyxoma Peritonei
Constipation, Inflammation of the large intestine, Nausea and vomiting, Abdominal pain, Intestina... ORPHA:26790
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Trichohepatoenteric Syndrome 2
Small for gestational age, Colitis, Failure to thrive, Villous atrophy, Diarrhea OMIM:614602
Eosinophilic Gastroenteritis
Hematochezia, Abnormality of the gastrointestinal tract, Weight loss, Abdominal pain, Dysphagia, ... ORPHA:2070
Vascular Hyalinosis
Malabsorption, Hematochezia, Diarrhea, Protein-losing enteropathy OMIM:277175
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties, M... ORPHA:141152
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Diarrhea OMIM:613501
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Coproporphyria, Hereditary
Constipation, Increased urinary porphobilinogen, Abdominal pain, Increased fecal coproporphyrin 3... OMIM:121300
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Constipation, Gastroesophageal reflux, Colonic div... ORPHA:263665
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Failure to thrive, Enterocolitis, Episodic vomiting, Villous atr... OMIM:616050
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Anorexia, Abnormal intestine morphology, Secretory diarrhea, Diarrhea, Vomiting OMIM:600351
Diencephalic Syndrome
Decreased body weight, Long penis, Cachexia ORPHA:1672
Multiple Intestinal Atresia
Duodenal stenosis, Gastrointestinal atresia ORPHA:2300
Rabies
Nausea and vomiting, Anorexia, Diarrhea ORPHA:770
Spinocerebellar Ataxia 48
Urinary incontinence, Dysphagia, Cachexia OMIM:618093
Hereditary Central Diabetes Insipidus
Diarrhea, Weight loss, Vomiting ORPHA:30925
Mulibrey Nanism
Cachexia ORPHA:2576
Anal Sphincter Dysplasia
Constipation, Encopresis, Bowel incontinence, Chronic constipation, Diarrhea OMIM:105563
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Jejunal Atresia
Jejunal atresia OMIM:243600
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Abdominal pain, Abdominal distention, Cachexia, Weight loss ORPHA:83469
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Refractory Celiac Disease
Chronic diarrhea, Abdominal pain, Malnutrition, Protein-losing enteropathy, Villous atrophy, Mala... ORPHA:398063
Volvulus Of Midgut
Constipation, Intestinal malrotation, Neonatal intestinal obstruction, Abdominal distention, Volv... OMIM:193250
Visceral Myopathy 1
Megaduodenum, Urinary retention, Constipation, Hydronephrosis, Aganglionic megacolon, Megacystis,... OMIM:155310
Congenital Disorder Of Glycosylation, Type Id
High palate, Bifid uvula, Failure to thrive, Villous atrophy, Diarrhea, Vomiting OMIM:601110
Enteric Anendocrinosis
Malabsorption, Diarrhea, Vomiting ORPHA:83620
Reticular Dysgenesis
Diarrhea, Failure to thrive, Weight loss, Malabsorption ORPHA:33355
Anal Sphincter Myopathy, Internal
Constipation, Abnormality of the anus OMIM:105565
Hypercholanemia, Familial 1
Failure to thrive, Fat malabsorption, Steatorrhea OMIM:607748
Immunodeficiency, Common Variable, 11
Failure to thrive, Mucoid diarrhea, Crohn's disease, Inflammation of the large intestine OMIM:615767
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Chronic diarrhea, Villous atrophy, Tube feeding, Vomiting OMIM:619510
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Feeding difficulties in infancy, Hydronephrosis, Intestinal malrotation, Abdominal distention, Co... OMIM:300048
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Proteinuria, Abdominal pain, Failure to thrive, Episodic vomiting... OMIM:619377
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Intestinal atresia, Cachexia ORPHA:93941
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Diarrhea OMIM:608971
Juvenile Polyposis Syndrome
Hematochezia, Colon cancer, Intussusception, Rectal prolapse, Abdominal pain, Failure to thrive, ... OMIM:174900
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Constipation, Aganglionic megacolon, Abdominal disten... OMIM:142623
Christianson Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia, Cachexia ORPHA:85278
Glucose-Galactose Malabsorption
Nephrolithiasis, Hematuria, Hyperactive bowel sounds, Failure to thrive, Abdominal distention, Ma... ORPHA:35710
Moynahan Syndrome
Cachexia ORPHA:2574
Congenital Muscular Dystrophy Due To Lmna Mutation
Feeding difficulties, Cachexia ORPHA:157973
Attrv30M Amyloidosis
Weight loss, Constipation, Abnormal renal physiology, Nephropathy, Diarrhea ORPHA:85447
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Brunner Syndrome
Diarrhea OMIM:300615
Enterokinase Deficiency
Failure to thrive, Diarrhea OMIM:226200
Central Diabetes Insipidus
Anorexia, Nocturia, Nausea and vomiting, Failure to thrive, Diarrhea, Weight loss ORPHA:178029
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Diarrhea, Vomiting OMIM:616069
Bare Lymphocyte Syndrome, Type Ii
Colitis, Protracted diarrhea, Failure to thrive, Malabsorption, Villous atrophy OMIM:209920
Mpi-Cdg
Gastrointestinal hemorrhage, Decreased liver function, Failure to thrive, Protein-losing enteropa... ORPHA:79319
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Abnormal intestine morphology, Diarrhea OMIM:609313
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Intussusception, High, narrow palate, Rectal prolapse,... ORPHA:79076
Immunodeficiency 15B
Failure to thrive, Chronic diarrhea OMIM:615592
X-Linked Creatine Transporter Deficiency
Constipation, Ileus, Aganglionic megacolon, Cachexia ORPHA:52503
Alpha-Heavy Chain Disease
Malabsorption, Abdominal pain, Abnormality of the small intestine ORPHA:100025
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Inflammatory Pseudotumor Of The Liver
Nausea, Neoplasm of the liver, Abdominal pain, Abdominal distention, Weight loss, Vomiting ORPHA:90003
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Anorexia, Weight loss ORPHA:100083
Riboflavin Transporter Deficiency
Dysphagia, Cachexia ORPHA:97229
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Abdominal pain, Abdominal distention, Weight loss ORPHA:168811
Pulmonary Blastoma
Weight loss ORPHA:64741
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Cachexia... ORPHA:42
Glutaric Aciduria Iii
Failure to thrive, Glutaric aciduria, Diarrhea, Vomiting OMIM:231690
Diverticulosis, Small-Intestinal
Ulcerative colitis, Jejunoileal diverticula, Duodenal diverticula, Jejunal diverticula OMIM:223320
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, ... ORPHA:90362
Chylomicron Retention Disease
Fat malabsorption, Vomiting, Failure to thrive, Abdominal distention, Diarrhea, Steatorrhea ORPHA:71
Renpenning Syndrome
Hypospadias, Anal atresia, High, narrow palate, Cachexia, Cleft palate ORPHA:3242
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Glomerulonephritis, Chronic diarrhea, Failure to thrive, Villous atrophy OMIM:304790
Erythroderma Desquamativum
Failure to thrive, Diarrhea ORPHA:314
Cholesteryl Ester Storage Disease
Esophageal varix, Nausea and vomiting, Hepatic failure, Diarrhea ORPHA:75234
Pfapa Syndrome
Malabsorption, Nausea and vomiting, Abdominal pain, Weight loss ORPHA:42642
Folate Malabsorption, Hereditary
Malabsorption, Feeding difficulties in infancy, Failure to thrive, Diarrhea OMIM:229050
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Failure to thrive, Fat malabsorption, Diarrhea OMIM:601847
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria, Increased mitochondrial number, Protein-losing enteropathy OMIM:619063
Tuberculosis
Weight loss ORPHA:3389
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Constipation, Cachexia, Feeding difficulties, Failure to thrive in infancy OMIM:616801
Immunodeficiency 57 With Autoinflammation
Gastritis, Inflammation of the large intestine, Failure to thrive, Perianal abscess, Diarrhea OMIM:618108
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Failure to thrive, Abdominal distention, Protein-losing enteropathy, Di... OMIM:608104
Galactose Epimerase Deficiency
Aminoaciduria, Nausea and vomiting, Feeding difficulties, Weight loss ORPHA:79238
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Constipation, Diarrhea OMIM:615548
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Neuropathy, Congenital Hypomyelinating, 3
High palate, Gastroesophageal reflux, Cachexia OMIM:618186
Radiation Proctitis
Hematochezia, Rectal fistula, Rectal abscess, Abnormality of gastrointestinal vasculature, Abnorm... ORPHA:70475
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Hepatic failure, Diarrhea, Steatorrhea OMIM:235555
Aa Amyloidosis
Enlarged kidney, Nausea, Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney dis... ORPHA:85445
Netherton Syndrome
Failure to thrive, Abnormal intestine morphology, Intestinal atresia, Villous atrophy OMIM:256500
Peritoneal Cystic Mesothelioma
Constipation, Peritonitis, Abdominal pain, Abdominal distention, Weight loss ORPHA:168816
Tetrasomy 12P
Anal atresia, Abnormal soft palate morphology, Cachexia ORPHA:884
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Chronic diarrhea, Nausea and vomiting, Abdominal pain, Hepatocellular carcinoma, Weight... ORPHA:65682
Neuroendocrine Tumor Of The Rectum
Hematochezia, Bloody diarrhea, Constipation, Protracted diarrhea, Anorexia, Abdominal pain, Melen... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Bloody diarrhea, Constipation, Protracted diarrhea, Anorexia, Abdominal pain, Melen... ORPHA:100082
Lysosomal Acid Lipase Deficiency
Hepatic failure, Fatal liver failure in infancy, Renal salt wasting, Decreased liver function, Fe... ORPHA:275761
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Alg1-Cdg
Abnormality of the gastrointestinal tract, Nephrotic syndrome, Decreased liver function, Chronic ... ORPHA:79327
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Diarrhea, Failure to thrive secondary to recurrent infections OMIM:601457
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Nausea, Gastrointestinal hemorrhage, Proteinuria, Oligospermia, Diarrhea,... ORPHA:85450
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Mcdonough Syndrome
Cachexia ORPHA:2471
Majeed Syndrome
Proteinuria, Failure to thrive, Microscopic hematuria, Cachexia, Malabsorption, Weight loss ORPHA:77297
Porphyria, Acute Intermittent
Nausea, Urinary retention, Hepatocellular carcinoma, Dysuria, Constipation, Paralytic ileus, Abdo... OMIM:176000
Mungan Syndrome
Megaduodenum, Renal hypoplasia, Hypoperistalsis, Intestinal pseudo-obstruction, Barrett esophagus... OMIM:611376
Whipple Disease
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Malabsorption, Cachexia, Diarrhea ORPHA:3452
Cog7-Cdg
Failure to thrive, Feeding difficulties, Diarrhea, Small for gestational age ORPHA:79333
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Abdominal pain, Dysphagia, Intestinal... ORPHA:97286
Malonyl-Coa Decarboxylase Deficiency
Elevated urine suberic acid level, Methylmalonic aciduria, Constipation, Abdominal pain, Chronic ... OMIM:248360
Rett Syndrome
Constipation, Gastroesophageal reflux, Cachexia OMIM:312750
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Hepatic failure, Failure to thrive, Diarrhea, Steatorrhea OMIM:607765
Mitchell-Riley Syndrome
Intestinal malrotation, Jejunal atresia, Malabsorption, Anteriorly placed anus, Diarrhea, Duodena... OMIM:615710
Intellectual Developmental Disorder, Autosomal Dominant 57
Constipation, High palate, Feeding difficulties, Diarrhea OMIM:618050
Amoebiasis Due To Entamoeba Histolytica
Bloody diarrhea, Weight loss, Gastrointestinal dysmotility, Protracted diarrhea, Acute colitis, A... ORPHA:67
Silver-Russell Syndrome
Failure to thrive in infancy, Constipation, Gastroesophageal reflux, Obesity, Feeding difficultie... ORPHA:813
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Ileus, Nephrotic syndrome, Failure to thrive in infancy, Colitis, Tubulointerstitial nephritis, M... ORPHA:37042
Maculopapular Cutaneous Mastocytosis
Abdominal pain, Nausea, Diarrhea, Vomiting ORPHA:79457
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Hepatic fai... OMIM:557000
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Nasogastric tube feeding in infancy, Constipation, Feeding difficulties, Severe failure to thrive... ORPHA:371364
Yao Syndrome
Weight loss, Nephrolithiasis, Abdominal pain, Xerostomia, Diarrhea OMIM:617321
Neuroendocrine Tumor Of The Colon
Bloody diarrhea, Protracted diarrhea, Anorexia, Abdominal pain, Melena, Hypoactive bowel sounds, ... ORPHA:100080
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatic failure, Diarrhea, Steatorrhea OMIM:613812
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Diarrhea, Vomiting OMIM:239350
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Methylmalonic aciduria, Failure to thrive, Dicarboxylic aciduria, Nasogast... ORPHA:289504
Pelizaeus-Merzbacher Disease
Bowel incontinence, Cachexia, Failure to thrive in infancy ORPHA:702
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Fat malabsorption, Diarrhea OMIM:211600
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Peritonitis, Acute hepatic failure, Abdominal pain, Esophageal varix... ORPHA:131
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Colitis, Inflammation of the large intestine, Failure to thrive, Dysphagia, Chronic gastritis, Di... OMIM:608809
Rapadilino Syndrome
High palate, Diarrhea, High, narrow palate, Cleft palate OMIM:266280
Galactosemia I
Decreased liver function, Aminoaciduria, Failure to thrive, Increased level of galactitol in urin... OMIM:230400
Chromosome 19P13.13 Deletion Syndrome
Constipation, Feeding difficulties, Abdominal pain, Diarrhea, Vomiting OMIM:613638
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Nausea, Nephrolithiasis, Decreased mitochondrial number, Dysphagia, Poor appetite, Diarrhea ORPHA:352447
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Feeding difficulties in infancy, Renal salt wasting, Failure to thrive, Diarrhea, Vomiting OMIM:264350
Porphyria Due To Ala Dehydratase Deficiency
Nausea, Constipation, Increased urinary porphobilinogen, Abdominal pain, Abdominal distention, Ep... ORPHA:100924
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria, Cachexia ORPHA:1933
Isolated Agammaglobulinemia
Malabsorption, Failure to thrive, Diarrhea ORPHA:229717
Immunodeficiency 69
Failure to thrive, Diarrhea OMIM:618963
Botulism
Urinary retention, Constipation, Nausea and vomiting, Abdominal pain, Dysphagia, Xerostomia, Diar... ORPHA:1267
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Intermittent diarrhea, Colon cancer, Anorexia, Neoplasm of the... ORPHA:1333
Acquired Hypertrichosis Lanuginosa
Weight loss, Chronic diarrhea, Macroglossia, Poor appetite, Glossitis ORPHA:2221
Dracunculiasis
Nausea and vomiting, Diarrhea ORPHA:231
Pancreas, Annular
Duodenal stenosis, High intestinal obstruction OMIM:167750
Annular Pancreas
Duodenal stenosis, High intestinal obstruction ORPHA:675
Immunodeficiency 76
Colitis, Chronic diarrhea OMIM:619164
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Nephropathy, Proteinuria ORPHA:2774
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Rectovaginal fistula, Ureteral duplication, Intestinal malrotation, Anal atresia, Abdominal diste... OMIM:270420
Alg6-Cdg
Failure to thrive, Feeding difficulties, Protein-losing enteropathy, Macroglossia ORPHA:79320
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Failure to thrive, Weight loss, Vomi... OMIM:143880
Trigonocephaly 1
Long penis, Meckel diverticulum OMIM:190440
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Abdominal pain, Abnormal intestine morphology, Malabsorption, Intestinal obstruction, Diarrhea, V... OMIM:226300
Immunodeficiency 22
Failure to thrive, Diarrhea OMIM:615758
Foodborne Botulism
Urinary retention, Constipation, Nausea and vomiting, Abdominal pain, Dysphagia, Xerostomia, Diar... ORPHA:228371
Infantile Krabbe Disease
Nasogastric tube feeding in infancy, Gastroesophageal reflux, Feeding difficulties, Failure to th... ORPHA:206436
Methionine Malabsorption Syndrome
Aminoaciduria, Diarrhea OMIM:250900
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Pancreatoblastoma
Weight loss, Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:677
Myopathy, Myofibrillar, 1
Constipation, Diarrhea OMIM:601419
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Feeding difficulties, Chronic diarrhea, Failure to thrive, Recurrent infection o... OMIM:613489
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia, Weight loss ORPHA:1332
Neuroendocrine Tumor Of Stomach
Bloody diarrhea, Hepatic failure, Intermittent diarrhea, Protracted diarrhea, Zollinger-Ellison s... ORPHA:100075
Immunodeficiency, Common Variable, 8, With Autoimmunity
Colitis, Chronic diarrhea, Inflammation of the large intestine, Failure to thrive, Villous atroph... OMIM:614700
Kaposi Sarcoma
Diarrhea, Abnormality of the gastrointestinal tract, Weight loss ORPHA:33276
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Colonic atresia, Intestinal malrotation, Rectal atresia, Jejunal a... OMIM:243150
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Hepatic failure, Fat malabsorption OMIM:214950
Wild Type Attr Amyloidosis
Intermittent diarrhea, Nephrotic syndrome, Proteinuria, Gastrointestinal dysmotility, Chronic dia... ORPHA:330001
Blue Diaper Syndrome
Diarrhea, Nephrocalcinosis, Increased body weight, Blue urine ORPHA:94086
Aggressive Systemic Mastocytosis
Weight loss, Gastrointestinal hemorrhage, Decreased liver function, Anorexia, Abdominal pain, Mal... ORPHA:98850
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Proteinuria, Abdominal pain, Renal insufficiency, Diarrhea ORPHA:54057
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic diarrhea, Failure to thrive in infancy, Villous atrophy OMIM:606367
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Gastrostomy tube feeding in infancy, Dysphagia, Cachexia ORPHA:300605
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Nausea, Feeding difficulties, Reye syndrome-like episodes, Failure to thrive, Poor appetite, Diar... ORPHA:927
Flynn-Aird Syndrome
Cachexia ORPHA:2047
19Q13.11 Microdeletion Syndrome
Failure to thrive, Feeding difficulties, Hypospadias, Cachexia ORPHA:217346
Rhabdoid Tumor
Weight loss, Hematuria, Neoplasm of the liver, Abdominal pain, Nausea and vomiting, Poor appetite ORPHA:69077
Inhalational Botulism
Urinary retention, Constipation, Nausea and vomiting, Xerostomia, Diarrhea ORPHA:254504
Immunodeficiency 55
Diarrhea OMIM:617827
Porphyria
Abnormal urinary color, Constipation, Anorexia, Abdominal pain, Nausea and vomiting, Diarrhea ORPHA:738
Hereditary Folate Malabsorption
Gastroesophageal reflux, Anorexia, Nausea and vomiting, Failure to thrive, Diarrhea, Glossitis ORPHA:90045
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Feeding difficulties, Diarrhea, Vomiting OMIM:177735
Hyaline Fibromatosis Syndrome
Diarrhea OMIM:228600
Ileal Neuroendocrine Tumor
Nausea, Hepatic failure, Intermittent diarrhea, Abnormal bowel sounds, Hydronephrosis, Zollinger-... ORPHA:100078
Jejunal Neuroendocrine Tumor
Nausea, Hepatic failure, Intermittent diarrhea, Abnormal bowel sounds, Hydronephrosis, Zollinger-... ORPHA:100077
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Weight loss, Cachexia ORPHA:1979
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Morphological abnormality of the gastrointestinal tract, Esophageal neoplasm, Achalasia, Hematuri... ORPHA:1018
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Failure to thrive, Malabsorption, Protruding tongue, Diarrhea OMIM:242860
Adult Intestinal Botulism
Diarrhea ORPHA:178487
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Poor suck, Feeding difficulties, Meckel diverticulum, Dysphagia, Nasogastric tube feeding ORPHA:163961
Colonic Atresia
Colonic atresia, Abdominal distention, Duodenal stenosis, Peptic ulcer ORPHA:1198
Cholestasis, Progressive Familial Intrahepatic, 3
Malabsorption, Diarrhea OMIM:602347
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Ppoma
Intestinal carcinoid, Weight loss, Gastrointestinal hemorrhage, Constipation, Anorexia, Nausea an... ORPHA:97278
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Diarrhea ORPHA:277
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Autosomal Agammaglobulinemia
Malabsorption, High palate, Failure to thrive, Diarrhea ORPHA:33110
Aredyld Syndrome
Abnormality of the ureter, Cachexia ORPHA:1133
Immunodeficiency 46
Failure to thrive, Chronic diarrhea OMIM:616740
Trichohepatoenteric Syndrome 1
Intractable diarrhea, Hepatic failure, Renal cortical microcysts, Bifid uvula, Small for gestatio... OMIM:222470
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Reye syndrome-like episodes, Acute hepatic failure, Failure to thrive, Diarrhea, Vomiting OMIM:256810
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Nephrotic syndrome, Glandular hypospadias, Hypospadias, Diarrhea, Gastritis ORPHA:2575
Satoyoshi Syndrome
Malabsorption, Diarrhea OMIM:600705
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamines, Elevated urinary dopamine, Elevated urinary homovanillic acid, E... OMIM:256700
Ethylmalonic Encephalopathy
Failure to thrive, Ethylmalonic aciduria, Diarrhea ORPHA:51188
Syndromic Diarrhea
Intractable diarrhea, Bloody diarrhea, Hepatoblastoma, Small for gestational age, Renal hypoplasi... ORPHA:84064
Immunodeficiency 27A
Diarrhea, Anorexia, Weight loss OMIM:209950
Microsporidiosis
Nausea, Intermittent diarrhea, Peritonitis, Urethritis, Anorexia, Chronic diarrhea, Abdominal pai... ORPHA:2552
Angioedema, Hereditary, 1
Abdominal pain, Intestinal edema, Diarrhea, Vomiting OMIM:106100
Congenital Toxoplasmosis
Diarrhea, Failure to thrive in infancy ORPHA:858
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Huntington Disease-Like 2
Weight loss ORPHA:98934
Bone Dysplasia, Lethal Holmgren Type
Diarrhea, Nausea and vomiting, Failure to thrive, Weight loss ORPHA:1842
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Bloody diarrhea, Colonic stenosis, Acute kidney injury, Anuria, Peritonit... ORPHA:90038
Erythermalgia, Primary
Constipation, Xerostomia, Diarrhea OMIM:133020
Neuroendocrine Neoplasm Of Appendix
Bowel urgency, Intestinal carcinoid, Constipation, Protracted diarrhea, Abnormal bowel sounds, An... ORPHA:100079
Oculopharyngodistal Myopathy
High palate, Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia, High, narrow pal... ORPHA:98897
Typhoid
Constipation, Abdominal pain, Diarrhea, Gastrointestinal hemorrhage ORPHA:99745
Shigellosis
Intestinal perforation, Nausea, Hepatic failure, Bloody diarrhea, Failure to thrive in infancy, H... ORPHA:810
Harrod Syndrome
High palate, Malrotation of small bowel, Renal cortical microcysts, Aganglionic megacolon, High, ... OMIM:601095
Fatal Familial Insomnia
Constipation, Dysphagia, Urinary retention, Weight loss OMIM:600072
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Weight loss, Colitis, Abdominal pain, Abdominal distention, Di... ORPHA:309031
Celiac Disease, Susceptibility To, 1
Weight loss, Recurrent aphthous stomatitis, Abdominal pain, Failure to thrive, Abdominal distenti... OMIM:212750
Primary Myelofibrosis
Anorexia, Cachexia ORPHA:824
Lissencephaly, X-Linked, 2
Micropenis, Feeding difficulties in infancy, Diarrhea, High palate OMIM:300215
Nephroblastoma
Abdominal pain, Neoplasm of the liver, Weight loss, Hematuria ORPHA:654
Pleural Mesothelioma
Dysphagia, Weight loss ORPHA:50251
Immunodeficiency 14B, Autosomal Recessive
Colitis, Chronic diarrhea, Inflammation of the large intestine OMIM:619281
Galactosemia
Hepatic failure, Feeding difficulties, Failure to thrive, Renal insufficiency, Diarrhea, Vomiting ORPHA:352
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Peritonitis, Recurrent aphthous stomatitis, Abdominal pain, Intestin... ORPHA:343
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Prolinuria, Feeding difficulties, Hydroxyproli... ORPHA:79101
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea ORPHA:29822
Nijmegen Breakage Syndrome
Anal stenosis, Chronic diarrhea, Anorectal anomaly, Anal atresia, Cachexia, Pollakisuria, Cleft p... ORPHA:647
Lysosomal Acid Lipase Deficiency
Hepatic failure, Protuberant abdomen, Acute hepatic failure, Esophageal varix, Failure to thrive,... OMIM:278000
Ebola Hemorrhagic Fever
Nausea, Gastrointestinal hemorrhage, Abdominal pain, Dysphagia, Melena, Poor appetite, Diarrhea, ... ORPHA:319218
Somatostatinoma
Weight loss, Gastrointestinal hemorrhage, Constipation, Anorexia, Nausea and vomiting, Neoplasm o... ORPHA:97283
Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:98293
Zollinger-Ellison Syndrome
Hematochezia, Nausea, Gastrointestinal hemorrhage, Zollinger-Ellison syndrome, Increased urinary ... ORPHA:913
Liposarcoma
Nausea and vomiting, Abdominal pain, Weight loss ORPHA:69078
Encephalopathy, Ethylmalonic
Failure to thrive, Ethylmalonic aciduria, Chronic diarrhea, Feeding difficulties OMIM:602473
Alg8-Cdg
Abnormality of the gastrointestinal tract, Small for gestational age, Feeding difficulties, Macro... ORPHA:79325
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Failure to thrive, Diarrhea, Vomiting OMIM:560000
X-Linked Intellectual Disability, Cabezas Type
High palate, Obesity, Hypoplasia of penis, Cachexia ORPHA:85293
Grfoma
Intestinal carcinoid, Weight loss, Gastrointestinal hemorrhage, Constipation, Zollinger-Ellison s... ORPHA:97261
Isaacs Syndrome
Weight loss ORPHA:84142
Mitochondrial Dna Depletion Syndrome 11
Nausea, Diarrhea OMIM:615084
Complement Component 4B Deficiency
Chronic diarrhea OMIM:614379
Systemic Sclerosis
Abnormal stomach morphology, Barrett esophagus, Abnormality of the gastrointestinal tract, Acute ... ORPHA:90291
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Bladder diverticulum, Colonic diverticula OMIM:223330
American Trypanosomiasis
Abnormal large intestine physiology, Achalasia, Aganglionic megacolon, Abdominal pain, Diarrhea ORPHA:3386
Paroxysmal Nocturnal Hemoglobinuria 2
Abdominal pain, Paroxysmal nocturnal hemoglobinuria, Diarrhea OMIM:615399
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Hereditary Angioedema Type 1
Nausea, Abnormal soft palate morphology, Abdominal pain, Abnormal uvula morphology, Dysphagia, In... ORPHA:100050
Cutaneous Mastocytoma
Abdominal pain, Nausea, Diarrhea, Vomiting ORPHA:79455
Familial Glucocorticoid Deficiency
Azoospermia, Constipation, Renal salt wasting, Anorexia, Failure to thrive, Hypernatriuria, Diarr... ORPHA:361
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abdominal pain, Diarrhea, Weight loss ORPHA:54251
Multiple Endocrine Neoplasia, Type Iib
High palate, Failure to thrive in infancy, Constipation, Colonic diverticula, Elevated urinary ep... OMIM:162300
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Lymphocytic infiltration of the colorectal mucosa, Atrophic gastritis, Diarrhea OMIM:616100
Immunodeficiency 82 With Systemic Inflammation
Intractable diarrhea, Crohn's disease, Weight loss, Gastritis, Colitis, Anorexia, Abdominal pain,... OMIM:619381
X-Linked Agammaglobulinemia
Chronic diarrhea, Failure to thrive, Glossoptosis, Malabsorption, Weight loss ORPHA:47
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Acrodermatitis Enteropathica
Anorexia, Chronic diarrhea, Failure to thrive, Furrowed tongue, Malabsorption, Poor appetite, Wei... ORPHA:37
Bannayan-Riley-Ruvalcaba Syndrome
Hamartomatous polyposis, Cachexia, Abnormal large intestine morphology, Intestinal polyposis, Nar... ORPHA:109
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Weight loss ORPHA:411703
Parenteral Nutrition-Associated Cholestasis
Abdominal pain, Hepatic failure, Small for gestational age, Villous atrophy ORPHA:567983
Glucagonoma
Weight loss, Gastrointestinal hemorrhage, Stomatitis, Constipation, Anorexia, Abnormal gastrointe... ORPHA:97280
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Diarrhea ORPHA:49827
Immunodeficiency 56
Failure to thrive, Hepatic failure, Chronic diarrhea, Recurrent infection of the gastrointestinal... OMIM:615207
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea OMIM:612692
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Obesity, Meckel diverticulum, Pyloric stenosis, Urinary incontinence ORPHA:777
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Constipation, Neoplasm of the rectum, Stomach cancer, Neoplasm of th... ORPHA:440437
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Snakebite Envenomation
Acute kidney injury, Vomiting, Neuromuscular dysphagia, Diarrhea, Pseudobulbar paralysis ORPHA:449285
Adiposis Dolorosa
Constipation, Obesity, Diarrhea, Xerostomia ORPHA:36397
Late-Onset Isolated Acth Deficiency
Weight loss, Constipation, Anorexia, Abdominal pain, Failure to thrive, Nausea and vomiting, Celi... ORPHA:199299
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea OMIM:619446
Systemic Capillary Leak Syndrome
Oliguria, Weight loss, Abdominal pain, Renal insufficiency, Diarrhea ORPHA:188
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Protracted diarrhea, Failure to thrive secondary to recurrent infections, Anorexia, Diarrhea ORPHA:169160
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Anorexia, Cachexia ORPHA:1969
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Necrotizing Enterocolitis
Bloody diarrhea, Small for gestational age, Peritonitis, Abdominal distention, Diarrhea, Vomiting ORPHA:391673
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Martinez-Frias Syndrome
Intestinal hypoplasia, Intestinal malrotation, Tracheoesophageal fistula, Jejunal atresia, Hyposp... OMIM:601346
Immunodeficiency 60 And Autoimmunity
Colitis, Crohn's disease, Chronic diarrhea, Ulcerative colitis OMIM:618394
Lynch Syndrome
Gastrointestinal hemorrhage, Colon cancer, Constipation, Neoplasm of the rectum, Abdominal pain, ... ORPHA:144
Primary Hepatic Neuroendocrine Carcinoma
Nausea, Weight loss, Anorexia, Neoplasm of the liver, Abdominal distention, Episodic abdominal pa... ORPHA:100085
Malignant Atrophic Papulosis
Intestinal perforation, Gastrointestinal hemorrhage, Peritonitis, Abdominal pain, Nausea and vomi... ORPHA:679
Acute Intermittent Porphyria
Ileus, Urinary retention, Hepatocellular carcinoma, Dysuria, Constipation, Increased urinary porp... ORPHA:79276
Cold Agglutinin Disease
Nausea and vomiting, Abnormal urinary color, Diarrhea ORPHA:56425
Trisomy 18
Hydronephrosis, Anal atresia, Esophageal atresia, Cachexia, Narrow palate, Cleft palate ORPHA:3380
Cog4-Cdg
Intermittent diarrhea, Failure to thrive in infancy, Fatal liver failure in infancy, Feeding diff... ORPHA:263501
Familial Mediterranean Fever
Oral leukoplakia, Nephrocalcinosis, Nephrotic syndrome, Proteinuria, Constipation, Peritonitis, A... ORPHA:342
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Diarrhea, Vomiting ORPHA:79456
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Diarrhea OMIM:602450
Dyskeratosis Congenita, Autosomal Dominant 2
Esophageal stricture, Failure to thrive, Chronic diarrhea, Urethral stricture OMIM:613989
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Chronic diarrhea, Abdominal pain, Chronic constipation, Vomiting OMIM:142680
Sepsis In Premature Infants
Oliguria, Decreased body weight, Small for gestational age, Gastrointestinal dysmotility, Decreas... ORPHA:90051
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Small for gestational age, Increased fecal calprotectin level, Feeding difficult... OMIM:619573
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption, Decreased body weight, Malnutrition, Neurogenic bladder, Diarrhea ORPHA:96180
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, High palate, Failure to thrive, Diarrhea, Steatorrhea OMIM:617941
Dengue Fever
Abdominal pain, Diarrhea, Nausea and vomiting, Gastrointestinal hemorrhage ORPHA:99828
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Weight loss, Nephropathy ORPHA:100024
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Renal Fanconi syndrome, Proteinuria, Diarrhea, Increased b... ORPHA:263455
Caspase 8 Deficiency
Failure to thrive, Chronic diarrhea OMIM:607271
Igg4-Related Aortitis
Hydronephrosis, Abdominal pain, Weight loss, Intestinal obstruction ORPHA:449400
Familial Hypoaldosteronism
Decreased urinary potassium, Renal salt wasting, Feeding difficulties, Nausea and vomiting, Failu... ORPHA:427
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Cog8-Cdg
Failure to thrive, Protein-losing enteropathy ORPHA:95428
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, Esophageal carcinoma, Renovascular hypertension, Enterocol... ORPHA:391487
Complement Component 5 Deficiency
Intractable diarrhea OMIM:609536
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Hepatic failure, Fat malabsorption, Failure to thrive, Dark urine, Steatorrhea ORPHA:79303
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Nausea, Myoglobinuria, Esophageal varix, Failure to thrive, Diarrhea, Hep... ORPHA:264580
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea, Failure to thrive in infancy OMIM:618805
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Diarrhea, Abnormal urinary color, Hemoglobinuria ORPHA:90035
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Glomerular sclerosis, Constipation, Gastroesophageal reflux, Abn... OMIM:223900
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis, Hypoplasia of penis, Hydroureter ORPHA:2547
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Dysuria, Acute hepatic failure, Abdominal pain, Nausea and vomiting,... ORPHA:36426
Imerslund-Gräsbeck Syndrome
Proteinuria, Constipation, Failure to thrive, Poor appetite, Weight loss, Glossitis, Vomiting ORPHA:35858
Methanol Poisoning
Abdominal pain, Diarrhea, Vomiting ORPHA:31825
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Weight loss, Small for gestational age ORPHA:424
Transcobalamin Ii Deficiency
Failure to thrive, Methylmalonic aciduria, Diarrhea, Vomiting OMIM:275350
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria, Esophageal varix, Failure to thrive, Hepatocellular carcin... ORPHA:370
Scleroderma
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Acute kidney injury, Gast... ORPHA:801
Polyarteritis Nodosa
Abdominal pain, Abnormality of the gastrointestinal tract, Weight loss ORPHA:767
Hereditary Fructose Intolerance
Nausea, Constipation, Chronic kidney disease, Abdominal pain, Abdominal distention, Renal insuffi... ORPHA:469
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Chronic diarrhea OMIM:619484
Gallbladder Neuroendocrine Tumor
Nausea, Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Weight loss ORPHA:100086
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Chronic diarrhea OMIM:300400
Non-Functioning Paraganglioma
Nausea, Elevated urinary dopamine, Hematuria, Elevated urinary epinephrine, Elevated urinary nore... ORPHA:94080
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia OMIM:226730
Anaplastic Thyroid Carcinoma
Dysphagia, Tracheoesophageal fistula, Weight loss ORPHA:142
Juvenile Polyposis Syndrome
Hematochezia, Neoplasm of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal pol... ORPHA:2929
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Nephrotic syndrome, Hematuria, Proteinuria, Abdominal ... ORPHA:93552
Xfe Progeroid Syndrome
Failure to thrive, Renal insufficiency, Cachexia, Proteinuria OMIM:610965
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Huntington Disease-Like 2
Weight loss OMIM:606438
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Chronic diarrhea, Urethral stricture, Failure to thrive in infancy OMIM:301220
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Feeding difficulties, Chronic diarrhea, Failure to thr... ORPHA:2176
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intussusception, Chronic diarrhea, Intestinal l... ORPHA:90363
Immunodeficiency, Common Variable, 2
Diarrhea OMIM:240500
Malakoplakia
Urinary bladder inflammation, Hematuria, Proteinuria, Dysuria, Neoplasm of the rectum, Neoplasm o... ORPHA:556
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Immunodeficiency, Common Variable, 1
Diarrhea OMIM:607594
Alg9-Cdg
Enlarged kidney, Ureteral hypoplasia, Bifid uvula, Hydronephrosis, Gastroesophageal reflux, Villo... ORPHA:79328
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Chronic diarrhea, Inflammation of the large inte... OMIM:614576
Classic Galactosemia
Hepatic failure, Feeding difficulties, Diarrhea, Vomiting ORPHA:79239
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Nausea, Chronic diarrhea, Vomiting OMIM:118230
Boutonneuse Fever
Abdominal pain, Nausea, Diarrhea, Renal insufficiency ORPHA:83313
Autosomal Dominant Epidermolytic Ichthyosis
Poor appetite, Weight loss ORPHA:312
Carnitine Palmitoyltransferase I Deficiency
Feeding difficulties in infancy, Renal tubular acidosis, Diarrhea OMIM:255120
Fabry Disease
Nausea, Proteinuria, Vomiting, Urinary mulberry cells, Tenesmus, Abdominal pain, Renal insufficie... OMIM:301500
Lassa Fever
Oliguria, Abdominal pain, Nausea and vomiting, Dysphagia, Diarrhea ORPHA:99824
Proximal Renal Tubular Acidosis
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bicarbonaturia, G... ORPHA:47159
Klatskin Tumor
Cholangiocarcinoma, Abdominal pain, Weight loss ORPHA:99978
Caroli Disease
Nausea, Abdominal rigidity, Cholangiocarcinoma, Anorexia, Polycystic kidney dysplasia, Esophageal... ORPHA:53035
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Chronic diarrhea, Macroglossia OMIM:618523
Immunodeficiency 91 And Hyperinflammation
Intermittent diarrhea, Nephrotic syndrome, Hemolytic-uremic syndrome, Acute hepatic failure, Fail... OMIM:619644
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Abdominal pain, Chronic diarrhea, Diarrhea, Failure to thrive in infancy OMIM:617099
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Feeding difficulties, Pyloric stenosis, Meckel diverticulum OMIM:616395
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Gastrostomy tube feeding in infancy, F... ORPHA:512
Carcinoid Syndrome
Intestinal carcinoid, Protracted diarrhea, Nausea and vomiting, Small intestine carcinoid, Episod... ORPHA:100093
Microscopic Polyangiitis
Oliguria, Gastrointestinal hemorrhage, Hematuria, Peritonitis, Abdominal pain, Nausea and vomitin... ORPHA:727
Distal Renal Tubular Acidosis
Renal cyst, Nephrocalcinosis, Hypermagnesiuria, Nephrolithiasis, Hypocitraturia, Hypercalciuria, ... ORPHA:18
Infection-Related Hemolytic Uremic Syndrome
Oliguria, Intestinal perforation, Nausea, Bloody diarrhea, Decreased urine output, Acute kidney i... ORPHA:544482
Duodenal Neuroendocrine Tumor
Nausea, Hepatic failure, Intermittent diarrhea, Intestinal carcinoid, Hydronephrosis, Zollinger-E... ORPHA:100076
Graft Versus Host Disease
Nausea, Gastrointestinal inflammation, Abdominal pain, Failure to thrive, Recurrent gastroenterit... ORPHA:39812
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Nausea, Myoglobinuria, Increased body weight, Hepatocellular carcinoma, H... ORPHA:79240
Mucopolysaccharidosis, Type Iiic
Diarrhea, Dysphagia, Heparan sulfate excretion in urine OMIM:252930
Schwartz-Jampel Syndrome
Feeding difficulties in infancy, High palate, Abnormality of the ureter, Decreased body weight, N... ORPHA:800
Intellectual Developmental Disorder, Autosomal Dominant 35
Pyloric stenosis, Chronic diarrhea OMIM:616355
Immunodeficiency By Defective Expression Of Mhc Class Ii
Protracted diarrhea, Failure to thrive, Diarrhea, Recurrent infection of the gastrointestinal tract ORPHA:572
Amyloidosis, Hereditary, Transthyretin-Related
Constipation, Urinary incontinence, Diarrhea OMIM:105210
Polymyositis
Gastrointestinal hemorrhage, Constipation, Gastroesophageal reflux, Anorexia, Abdominal pain, Wei... ORPHA:732
Car T Cell Therapy-Associated Cytokine Release Syndrome
Nausea, Decreased urine output, Acute kidney injury, Poor appetite, Diarrhea, Vomiting ORPHA:542323
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Diarrhea, Abdominal distention OMIM:214700
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Polyuria, Protein-losing enteropathy, Secretory diarrhea OMIM:618183
Serkal Syndrome
Malrotation of small bowel, Hypospadias, Abnormal penis morphology ORPHA:139466
Specific Granule Deficiency 2
Intractable diarrhea, Failure to thrive OMIM:617475
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Turcot Syndrome With Polyposis
Hematochezia, Nausea, Hepatoblastoma, Colon cancer, Constipation, Desmoid tumors, Abdominal pain,... ORPHA:99818
Familial Mediterranean Fever
Crohn's disease, Nephrotic syndrome, Peritonitis, Abdominal pain, Stage 5 chronic kidney disease,... OMIM:249100
Castleman Disease
Abnormality of the gastrointestinal tract, Hematuria, Abdominal pain, Abdominal distention, Nause... ORPHA:160
Omenn Syndrome
Failure to thrive, Diarrhea OMIM:603554
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Diarrhea, Recurrent aphthous stomatitis OMIM:150550
Dpm1-Cdg
Failure to thrive, Gastrostomy tube feeding in infancy, Diarrhea, High, narrow palate ORPHA:79322
Oculoskeletodental Syndrome
Small for gestational age, Hypercalciuria, Macroglossia, Protein-losing enteropathy, Mucopolysacc... OMIM:618440
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Proteinuria, Gastroesophageal reflux, Tubulointerstitial nephritis, Abdominal pain, Na... ORPHA:183
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Malabsorption, Nephrocalcinosis, Atrophic gastritis, Diarrhea OMIM:240300
Immunodeficiency, Common Variable, 7
Chronic diarrhea OMIM:614699
Takayasu Arteritis
Gastrointestinal infarctions, Anorexia, Weight loss ORPHA:3287
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Feeding difficulties in infancy, Myoglobinuria, Acute hepatic failure, Failure to thrive, Dicarbo... ORPHA:71212
Classic Hodgkin Lymphoma
Poor appetite, Anorexia, Weight loss ORPHA:391
Cystic Fibrosis
Exocrine pancreatic insufficiency, Ileus, Hypercalciuria, Rectal prolapse, Failure to thrive, Mec... OMIM:219700
Huntington Disease
Oral-pharyngeal dysphagia, Weight loss, Decreased body mass index ORPHA:399
Systemic Mastocytosis With Associated Hematologic Neoplasm
Nausea, Weight loss, Abdominal pain, Peptic ulcer, Diarrhea ORPHA:98849
Autosomal Dominant Severe Congenital Neutropenia
Abdominal pain, Recurrent infection of the gastrointestinal tract, Diarrhea, Recurrent aphthous s... ORPHA:486
19P13.13 Microdeletion Syndrome
High palate, Feeding difficulties, Macroglossia, Abdominal pain, Functional abnormality of the ga... ORPHA:357001
16P13.2 Microdeletion Syndrome
Poor suck, Feeding difficulties in infancy, Micropenis, Gastroesophageal reflux, Chronic diarrhea... ORPHA:500055
Beta-Ketothiolase Deficiency
Weight loss, Anorexia, Ketonuria, Diarrhea, Vomiting ORPHA:134
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Organic aciduria, Anorexia, Weight loss ORPHA:79242
Addison Disease
Decreased urinary potassium, Constipation, Renal salt wasting, Anorexia, Abdominal pain, Failure ... ORPHA:85138
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hepatic failure, Micropenis, Hydronephrosis, Abdominal distention, Protein-losing en... OMIM:235255
Toxic Epidermal Necrolysis
Intestinal perforation, Gastrointestinal hemorrhage, Dysuria, Tracheoesophageal fistula, Acute he... ORPHA:537
Citrullinemia Type Ii
Enuresis, Decreased body mass index, Hepatocellular carcinoma, Diarrhea, Vomiting ORPHA:247585
Generalized Pseudohypoaldosteronism Type 1
Feeding difficulties in infancy, Weight loss, Failure to thrive in infancy, Vomiting ORPHA:171876
Combined Immunodeficiency Due To Zap70 Deficiency
Nephrotic syndrome, Colitis, Chronic diarrhea, Failure to thrive, Recurrent infection of the gast... ORPHA:911
Relapsing Fever
Hematuria, Acute kidney injury, Abdominal pain, Diarrhea, Vomiting ORPHA:91547
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Cholera
Decreased urine output, Acute kidney injury, Achlorhydria, Abdominal cramps, Abdominal pain, Abno... ORPHA:173
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Feeding difficulties, Odynophagia, Malnutrition, Weight loss ORPHA:221098
Solitary Fibrous Tumor/Hemangiopericytoma
Constipation, Urinary retention, Weight loss, Neoplasm of the liver ORPHA:2126
Congenital Disorder Of Glycosylation, Type Ia
Feeding difficulties in infancy, Renal cyst, Nephrotic syndrome, Proteinuria, Proximal tubulopath... OMIM:212065
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Constipation, Gastrointestinal dysmotility, Oral-phary... ORPHA:2131
B4Galt1-Cdg
Diarrhea, Small for gestational age ORPHA:79332
Carney Triad
Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Nausea and ... ORPHA:139411
Cockayne Syndrome
Unilateral renal agenesis, Feeding difficulties in infancy, Nephrotic syndrome, Proteinuria, Rena... ORPHA:191
Reactive Arthritis
Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatitis, Abdominal pain, ... ORPHA:29207
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Feeding difficulties in infancy, Enlarged kidney, High palate, Ureteral duplication, Hydronephros... OMIM:608836
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Bronchial Neuroendocrine Tumor
Hepatic failure, Weight loss, Protracted diarrhea, Anorexia, Bowel urgency, Poor appetite ORPHA:97287
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Poor appetite, Weight loss, Inflammation of the large intestine ORPHA:324964
Acute Adrenal Insufficiency
Decreased urinary potassium, Constipation, Renal salt wasting, Anorexia, Abdominal pain, Failure ... ORPHA:95409
Hypocomplementemic Urticarial Vasculitis
Hematuria, Proteinuria, Abdominal pain, Nausea and vomiting, Renal insufficiency, Diarrhea ORPHA:36412
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Failure to thrive, Intestinal obstruction, Chronic diarrhea OMIM:600802
Zygomycosis
Hematochezia, Nausea, Gastrointestinal hemorrhage, Gastritis, Colitis, Peritonitis, Colon perfora... ORPHA:73263
Pemphigus Vulgaris
Feeding difficulties in infancy, Weight loss ORPHA:704