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Gene: Slc26a3 MGI:107181

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 26, member 3
Synonyms:
9030623B18Rik,  Dra,  9130013M11Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc26a3 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.

The table below shows human diseases associated to Slc26a3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Hypochlo... OMIM:214700

The table below shows human diseases predicted to be associated to Slc26a3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Hypochlo... OMIM:214700
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... ORPHA:209964
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Feeding difficulties in infancy, Diarrhea, Hyperkalemia, Hyperactive renin-angioten... OMIM:264350
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Diarrhea, Hyperkalemia, Feeding difficulties, Hyperactive renin-angiotensin system,... OMIM:177735
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Abdominal colic, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Protein-losing enter... OMIM:615863
Central Diabetes Insipidus
Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive, Diabetes i... ORPHA:178029
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Vomiting OMIM:620126
Hyperchlorhidrosis, Isolated
Hyponatremia, Failure to thrive, Hyperkalemia, Feeding difficulties OMIM:143860
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Feeding difficulties in infancy, Hyperkalemia, Increased circulating renin level, V... OMIM:203400
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Feeding difficulties, Incr... ORPHA:556030
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... ORPHA:556037
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Hypoadrenocorticism, Familial
Hyponatremia, Adrenal hypoplasia, Feeding difficulties in infancy, Hyperkalemia, Vomiting, Adrena... OMIM:240200
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, El... ORPHA:90038
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Feeding difficulties in infancy, Glucocortocoid-insen... ORPHA:171876
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormo... OMIM:617872
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive OMIM:613090
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hyponatremia, Hypoparathyr... ORPHA:199299
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... ORPHA:424019
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocy... OMIM:246700
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... ORPHA:361
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Decreased circulating aldosterone level... OMIM:610600
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Hyperkale... OMIM:614736
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism OMIM:605635
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Small for... OMIM:601678
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Elevated circulating C-reactive protein concentration, Bloody diarrhea OMIM:619398
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Abnormal intestine morphology, Vomit... OMIM:606528
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... OMIM:175500
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Increased fecal coproporphyrin 3, Abdominal pain, Abnormal circulating porphyrin co... ORPHA:100924
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620125
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... ORPHA:403
Trehalase Deficiency
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensi... ORPHA:89938
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Familial Hypoaldosteronism
Hyponatremia, Nausea and vomiting, Diarrhea, Hyperkalemia, Feeding difficulties, Increased circul... ORPHA:427
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... ORPHA:251992
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Anorexia, Adrenal hypoplasia, Increa... ORPHA:85138
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Vomiting, Premature adrenarche, Hyponatremia, Hypogonadotro... ORPHA:90794
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... ORPHA:103910
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... ORPHA:79076
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Diarrhea, Hypochlo... OMIM:241200
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... ORPHA:2494
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal transit ti... OMIM:620045
Diarrhea 9
Villous atrophy, Failure to thrive, Diarrhea OMIM:618168
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Hyperaldosteronism, Dexamethasone-s... ORPHA:369929
Hereditary Coproporphyria
Hyponatremia, Small intestinal dysmotility, Abdominal pain, Abnormal circulating porphyrin concen... ORPHA:79273
Acute Adrenal Insufficiency
Hyponatremia, Nausea and vomiting, Decreased circulating cortisol level, Hypercalcemia, Anorexia,... ORPHA:95409
Snakebite Envenomation
Hyponatremia, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Hypopituitarism ORPHA:449285
Alg8-Cdg
Hyponatremia, Abnormality of the gastrointestinal tract, Small for gestational age, Diarrhea, Fee... ORPHA:79325
Glucose-Galactose Malabsorption
Failure to thrive, Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel... ORPHA:35710
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent... ORPHA:90791
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... OMIM:618183
Shigellosis
Hyponatremia, Failure to thrive in infancy, Anorexia, Abdominal pain, Intestinal perforation, Per... ORPHA:810
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... ORPHA:90363
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Esophageal stri... OMIM:617053
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypokalemia, Adrenocorti... ORPHA:231632
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive OMIM:602522
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Feeding difficulties, Hyperuricemia, Increased b... OMIM:613845
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Infant Botulism
Hyponatremia, Bowel incontinence, Anorexia, Abdominal pain, Xerostomia, Constipation, Dysphagia ORPHA:178478
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Vomiting, Hyponatremia, Abdominal pain, Decreased liver function, Nausea a... ORPHA:275761
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties OMIM:619793
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... OMIM:613217
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, Hypokalemia... ORPHA:231625
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Bowel incontinence, Feeding dif... ORPHA:682
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95512
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:2070
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti... ORPHA:199296
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Nausea, ... ORPHA:231580
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95513
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ... ORPHA:90790
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... ORPHA:103907
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrh... OMIM:175200
Whipple Disease
Hyponatremia, Gastrointestinal hemorrhage, Cachexia, Malabsorption, Anorexia, Abdominal pain, Dia... ORPHA:3452
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hypertriglyceridemia, Adrenal calcification, Diarrhea, Esophageal varix, Hyp... ORPHA:75234
Cholera
Hyponatremia, Achlorhydria, Abdominal pain, Diarrhea, Abnormal blood ion concentration, Hypokalem... ORPHA:173
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diar... ORPHA:391673
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614495
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Abnormal circulating aldos... OMIM:300539
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:91355
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Feeding difficulties in infancy, Nephrogenic diabetes insipidus, Constipation, Hypernatremia, Vom... OMIM:125800
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Feeding difficulties in infancy, Constipation, Hypernatremia, Vomiting, Failure to thrive, Diabet... OMIM:304800
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Porphyria Variegata
Hyponatremia, Abdominal pain, Abnormal circulating porphyrin concentration, Ileus, Constipation, ... ORPHA:79473
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic diarrhea, Blo... OMIM:614602
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Hypoalbuminemia, Protein-losing enteropathy, Vomiting, Dec... ORPHA:79319
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Follicular thy... ORPHA:97282
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia... ORPHA:1667
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614496
East Syndrome
Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Blue Rubber Bleb Nevus
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception OMIM:112200
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Vomiting, Increased circulating renin level, Abnor... OMIM:241150
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Colchicine Poisoning
Hyponatremia, Diarrhea, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Vomiting... ORPHA:31824
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level OMIM:614492
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Cystinosis
Malabsorption, Nephrogenic diabetes insipidus, Hypokalemia, Vomiting, Hypophosphatemia, Type I di... ORPHA:213
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... OMIM:603041
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hyperbilirubinemia, Hiatus hernia ORPHA:101009
Liddle Syndrome
Hypokalemia, Constipation ORPHA:526
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Increased circulating cor... ORPHA:97278
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... ORPHA:289548
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Failure to thrive, Feeding difficulties OMIM:620157
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Increased circulating renin level, Vomi... ORPHA:168558
Immunodeficiency 104
Diarrhea, Gastroesophageal reflux, Failure to thrive secondary to recurrent infections OMIM:608971
Leprechaunism
Enlarged ovaries, Abdominal distention, Rectal prolapse, Hyperinsulinemia, Megarectum, Central hy... ORPHA:508
Diarrhea 13
Failure to thrive, Hypoalbuminemia, Secretory diarrhea, Vomiting OMIM:620357
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Malabsorpti... OMIM:600955
Acute Intermittent Porphyria
Hyponatremia, Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Hyperhi... ORPHA:79276
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Nausea, Abdominal pain, Intestinal perforation, Pancreatitis, Di... ORPHA:544482
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Congenital Disorder Of Glycosylation, Type Ih
Decreased circulating T4 concentration, Cryptorchidism, Diarrhea, Abdominal distention, Elevated ... OMIM:608104
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Coproporphyria, Hereditary
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... OMIM:121300
Enterokinase Deficiency
Diarrhea, Failure to thrive, Hypoproteinemia OMIM:226200
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Hypogonadotropic hypogon... ORPHA:298
Congenital Sucrase-Isomaltase Deficiency
Abdominal colic, Abdominal distention, Diarrhea, Vomiting ORPHA:35122
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Poor appetite, Elevated circulating creatinine concentration, Feeding... ORPHA:411634
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Nausea and vomiting, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Elevated c... ORPHA:913
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Blue Diaper Syndrome
Hypercalcemia, Diarrhea, Elevated circulating thyroid-stimulating hormone concentration, Increase... ORPHA:94086
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Failure to thrive, Vomiting OMIM:602722
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Hepatic failure, Vomiting, Hypoalbuminemia, Protein-losing enteropathy... OMIM:602579
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Eosinophilic infiltration of the esophagus, Malabsorption, Hypoalbuminemia, Hypernatremia, Failur... OMIM:615508
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Episodic hyperhidrosis, Diarrhea, Elevated circulating creatinin... OMIM:223900
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... ORPHA:424016
Nephrogenic Diabetes Insipidus
Nausea and vomiting, Anorexia, Nephrogenic diabetes insipidus, Feeding difficulties, Constipation... ORPHA:223
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Increased circulating cor... ORPHA:97283
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Dysphagia, Hyperh... ORPHA:94093
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption OMIM:229050
Legionnaires Disease
Hyponatremia, Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Pancreatitis ORPHA:549
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone c... OMIM:131100
Apparent Mineralocorticoid Excess
Small for gestational age, Hypokalemia, Failure to thrive, Decreased circulating aldosterone leve... OMIM:218030
Pituitary Apoplexy
Hyponatremia, Nausea and vomiting, Hypergonadotropic hypogonadism, Decreased response to growth h... ORPHA:95613
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Feeding difficulties, Hypokalemia, Gastroesophageal reflux, Vomiting, Failure to th... OMIM:618426
Renal Hypoplasia, Bilateral
Hyponatremia, Small for gestational age, Cryptorchidism, Hyperkalemia, Feeding difficulties, Fail... ORPHA:97362
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... OMIM:619445
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Abdominal pain, Diarrhea, Hyperammonemia, Vomiting, Pancreatitis OMIM:620137
Reticular Dysgenesis
Malabsorption, Diarrhea, Weight loss, Failure to thrive, Aplasia/Hypoplasia of the thymus ORPHA:33355
Refractory Celiac Disease
Villous atrophy, Malabsorption, Abdominal pain, Hypomagnesemia, Chronic diarrhea, Malnutrition, W... ORPHA:398063
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Bile Acid Synthesis Defect, Congenital, 2
Diarrhea, Steatorrhea, Hyperbilirubinemia, Hepatic failure, Failure to thrive OMIM:235555
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism OMIM:617027
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Diarrhea, Hepatic failure, Acholic stools, Steatorrhea, Fat malabs... OMIM:607765
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Increased circulating renin ... OMIM:607364
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... ORPHA:247353
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Steatorrhea, Failure to thrive, Pancreatitis, E... OMIM:219700
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Thyroid lymphangiectasia, Cryptorchidism, Rectal prolapse, Narrow palate, Hypoalbuminemia, Protei... OMIM:235510
Gitelman Syndrome
Neoplasm of the pancreas, Nausea and vomiting, Maternal diabetes, Abdominal pain, Diarrhea, Delay... ORPHA:358
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Elevated circulating C-reactive protein concentration, Feeding difficulties in i... OMIM:616050
Chylomicron Retention Disease
Hypertriglyceridemia, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, F... ORPHA:71
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea OMIM:615767
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Diarrhea, Hepatocellular carcinoma, Fat malabsorption, Failure to ... OMIM:601847
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Hypokalemia, Weight loss, Goiter OMIM:188580
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Primary hyperaldosteronism, Hypokalemia, Decreased circulating renin level OMIM:615474
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Di... OMIM:615710
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Feeding difficulties, Hypokalemia, High palate, Hypocalcemia, Gastroeso... OMIM:617913
Cog7-Cdg
Small for gestational age, Elevated circulating creatine kinase concentration, Diarrhea, Feeding ... ORPHA:79333
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... ORPHA:293978
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Acute hyperammonemia, Poor appetite, Reye syndrome-like episodes, Hyperglutaminemia, Diarrhea, Hy... ORPHA:927
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration, Nausea and vomiting ORPHA:1930
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Intestinal malrotation, Cryptorchidis... ORPHA:79324
Brunner Syndrome
Diarrhea OMIM:300615
Enteric Anendocrinosis
Type I diabetes mellitus, Diarrhea, Vomiting, Malabsorption ORPHA:83620
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia OMIM:612780
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Malabsorption, Feeding difficulties in infancy,... ORPHA:534
Cronkhite-Canada Syndrome
Intestinal polyposis, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Furrowed tongu... ORPHA:2930
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Increased circulating cor... ORPHA:97280
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Obesity, Feeding difficulties OMIM:620270
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Failure to thrive, Vomiting, Small for gestational age OMIM:618252
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Abdominal pain, Hypothyroidism, Diarrhea, Hypoalbuminemia,... OMIM:226300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Immunodeficiency 69
Increased circulating ferritin concentration, Diarrhea, Failure to thrive OMIM:618963
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-s... OMIM:201810
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Rabin-Pappas Syndrome
Hyponatremia, Failure to thrive in infancy, Obesity, Feeding difficulties OMIM:620155
Dubowitz Syndrome
Hypoparathyroidism, Anal stenosis, Malabsorption, Cryptorchidism, Rectal prolapse, Submucous clef... ORPHA:235
Cystic Fibrosis
Meconium ileus, Malabsorption, Rectal prolapse, Gastroesophageal reflux, Steatorrhea, Failure to ... ORPHA:586
Familial Dysautonomia
Hyponatremia, Feeding difficulties in infancy, Hypohidrosis, Hyperhidrosis, Gastroesophageal reflux ORPHA:1764
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive OMIM:612075
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El... ORPHA:276152
Dietary Iron Overload Disease
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:139507
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Diarrhea, Cholelithiasis, Fat malabsorption, Failure to thrive OMIM:211600
Galactosemia I
Hypergonadotropic hypogonadism, Diarrhea, Increased level of galactitol in plasma, Vomiting, Hype... OMIM:230400
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... OMIM:601198
Orthostatic Hypotension 1
Hypomagnesemia, High palate, Reduced circulating prolactin concentration, Increased blood urea ni... OMIM:223360
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Reduced... OMIM:219800
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia OMIM:608688
Fanconi-Bickel Syndrome
Hypouricemia, Poor appetite, Malabsorption, Abdominal distention, Hypophosphatemia, Hypokalemia, ... OMIM:227810
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal cal... OMIM:278000
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Vomiting, Intermittent diarrhea, Failure to thrive... ORPHA:289504
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Diarrhea, Increased blood urea nit... OMIM:235400
Sandhoff Disease, Juvenile Form
Diarrhea, Failure to thrive, Constipation, Dysphagia ORPHA:309162
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Diabetes insipidus, Weight loss ORPHA:30925
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation, Hyperhidrosis OMIM:615548
Immunodeficiency 48
Diarrhea, Failure to thrive OMIM:269840
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Hyperinsulinemia, Elevated circulating creatinine concentration, Vomiting, Increased bl... ORPHA:230
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... ORPHA:67
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Nausea and vomi... ORPHA:440437
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... ORPHA:100079
Cutis Laxa, Autosomal Recessive, Type Ic
Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Feeding difficulties, Hypoplasia of the th... OMIM:613177
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... OMIM:243150
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Hypercalcemia, Pituitary null cell adenoma, Neoplasm of the thymus... ORPHA:97289
Holoprosencephaly
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Diabetes insipidus, Feeding diffic... ORPHA:2162
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... OMIM:615751
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties OMIM:619971
Immunodeficiency 57 With Autoinflammation
Gastritis, Perianal abscess, Diarrhea, Inflammation of the large intestine, Failure to thrive OMIM:618108
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Cleft palate, High... OMIM:154230
Mednik Syndrome
Jejunal atresia, Diarrhea, Increased circulating very long-chain fatty acid concentration, Neonat... OMIM:609313
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Recurre... OMIM:613960
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Protein-losing enteropathy, Hypocalcemia, Vomiting, Eleva... OMIM:619991
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Hypoalbuminemia, Protein-losing ente... ORPHA:79327
Satoyoshi Syndrome
Diarrhea, Mildly elevated creatine kinase, Malabsorption OMIM:600705
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 Renal Hypouricemia
Hypouricemia, Vomiting, Nausea, Increased blood urea nitrogen ORPHA:94088
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Failure to thrive, Anorexia OMIM:611590
Hereditary Mixed Polyposis Syndrome
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema... ORPHA:157794
Glycogen Storage Disease Ixb
Diarrhea, Hyperuricemia OMIM:261750
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Cleft palate, Feeding difficulties, Anteriorly placed anus, Constipation, ... OMIM:239300
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... ORPHA:65682
Celiac Disease, Susceptibility To, 1
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, Weight loss, Vomitin... OMIM:212750
Japanese Encephalitis
Hyponatremia, Anorexia, Abdominal pain, Diarrhea, Vomiting, Inappropriate antidiuretic hormone se... ORPHA:79139
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... ORPHA:44890
Igg4-Related Retroperitoneal Fibrosis
Nausea and vomiting, Elevated circulating C-reactive protein concentration, Anorexia, Abdominal p... ORPHA:49041
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Hypercalcemia, Obesity, Increased blood urea nitrogen, Delayed puberty ORPHA:251004
Bile Acid Synthesis Defect, Congenital, 3
Diarrhea, Hepatic failure, Hematochezia, Acholic stools, Bile duct proliferation, Hyperbilirubine... OMIM:613812
Medullary Thyroid Carcinoma
Diarrhea, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Weight loss... ORPHA:1332
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea, Decreased circulating chenodeoxycholic acid concentration OMIM:619481
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Poor appetite... ORPHA:352447
Pancreatic Colipase Deficiency
Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency ORPHA:309108
Liddle Syndrome 2
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Methionine Malabsorption Syndrome
Diarrhea, Positive ferric chloride test OMIM:250900
Glutaric Aciduria Iii
Hyperthyroidism, Diarrhea, Vomiting, Failure to thrive, Goiter OMIM:231690
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Elevated circulating C-reactive protein concentration... OMIM:619381
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Pancreatitis... ORPHA:247585
Carcinoid Syndrome
Nausea and vomiting, Lack of bowel sounds, Protracted diarrhea, Episodic abdominal pain, Pulmonar... ORPHA:100093
Andersen-Tawil Syndrome
Hyperaldosteronism, High palate ORPHA:37553
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Mercury Poisoning
Anorexia, Episodic abdominal pain, Hypokalemia, Episodic vomiting, Nausea ORPHA:330021
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Diarrhea, Abdominal pain ORPHA:54057
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Liddle Syndrome 1
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexual precocio... ORPHA:90795
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Anorexia, Hyper... ORPHA:3008
Neuroendocrine Tumor Of The Colon
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Melena, Protracted di... ORPHA:100080
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Cachexia, Diarrhea, Hyperammonemia, Decreased... ORPHA:42
Isolated Agammaglobulinemia
Diarrhea, Failure to thrive, Malabsorption ORPHA:229717
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Cockayne Syndrome Type 1
Cryptorchidism, Diarrhea, Hypohidrosis, Increased blood urea nitrogen, Male hypogonadism, Failure... ORPHA:90321
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased circulating cortisol level OMIM:611489
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hyperthreoninemia, Abnor... ORPHA:247598
Cog4-Cdg
Fatal liver failure in infancy, Failure to thrive in infancy, Feeding difficulties, Intermittent ... ORPHA:263501
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Hyperprolinemia, Feeding difficulties, Hyperglycinemia, Dysphagia, Hype... ORPHA:79101
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea, Bile duct proliferation, Increased serum bile acid concentration, Malabsorption OMIM:602347
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Episodic hyperhidrosis, Hypermagnesemia, Vomiting... ORPHA:469
Apparent Mineralocorticoid Excess
Hypokalemia, Abnormality of circulating cortisol level, Failure to thrive, Decreased circulating ... ORPHA:320
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase ORPHA:681
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Feeding difficulties in infancy... OMIM:610505
Aa Amyloidosis
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Adrenal insufficiency, H... ORPHA:85445
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Abnormal circulating fatty-acid concentration, Diarrhea, Hyperinsuline... ORPHA:263455
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... ORPHA:144
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Rectal prolapse, Pseudohypoparathyroidism, Obesity, Feeding difficulties, Gastroesophageal reflux... OMIM:617157
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Anorexia, Poor appetite, Hematemesis, Bowel urgency, Lack of bowel sounds, I... ORPHA:100075
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... ORPHA:90362
Attrv30M Amyloidosis
Diarrhea, Constipation, Weight loss ORPHA:85447
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Increased circulating fr... ORPHA:71212
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Small for gestational age, Elevated circulating creatine kinase concentration, Feeding difficulti... OMIM:301056
Methanol Poisoning
Abdominal pain, Hyperlipidemia, Diarrhea, Vomiting, Type II diabetes mellitus, Type I diabetes me... ORPHA:31825
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonemia, Feeding difficultie... OMIM:255120
Immunodeficiency 11B With Atopic Dermatitis
Chronic diarrhea, Colonic eosinophilia, Ulcerative colitis OMIM:617638
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Cholangiocarcinoma, Gastrointestinal hemorrhage, Biliary hyperplasia, Pancreatic cy... ORPHA:731
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Diarrhea, Malnutrition,... ORPHA:96180
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Chronic diarrhea, Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Abnormal blood ion concentration, Hypokalemia, Constipation, V... ORPHA:411629
Carnitine Deficiency, Systemic Primary
Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonemia, Vomiting, Failure t... OMIM:212140
Williams-Beuren Syndrome
Colonic diverticula, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Celiac disea... OMIM:194050
Immunodeficiency 27A
Diarrhea, Hypoalbuminemia, Anorexia, Weight loss OMIM:209950
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, High palate, Decreased body weight, Hypothyroidism, Nasogastri... OMIM:607906
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Elevated circulating C-reactive protein concentration, Abdominal pain, Periana... OMIM:301074
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea OMIM:614328
Williams Syndrome
Elevated circulating creatine kinase concentration, Rectal prolapse, Gastroesophageal reflux, Hyp... ORPHA:904
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglutamatemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hyperprolinemia, Feed... OMIM:620358
Rapadilino Syndrome
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
X-Linked Agammaglobulinemia
Malabsorption, Chronic diarrhea, Weight loss, Glossoptosis, Hypocalcemia, Failure to thrive ORPHA:47
B4Galt1-Cdg
Small for gestational age, Elevated circulating creatine kinase concentration, Diarrhea, Decrease... ORPHA:79332
Gitelman Syndrome
Abdominal pain, Hypokalemia, Constipation, Increased circulating renin level, Vomiting, Hypomagne... OMIM:263800
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Failure to thrive OMIM:613501
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction,... ORPHA:1333
Immunodeficiency 76
Chronic diarrhea, Colitis OMIM:619164
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Poor appetite, Diarrhea, Decreased serum zinc, Hypogonadism, Decreased serum testosterone concent... OMIM:201100
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Feeding difficulties ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Feeding difficulties ORPHA:529799
Bronchial Neuroendocrine Tumor
Anorexia, Poor appetite, Elevated circulating growth hormone concentration, Bowel urgency, Increa... ORPHA:97287
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Congenital-Onset Steinert Myotonic Dystrophy
Abdominal pain, Encopresis, Diarrhea, Obesity, Constipation, Gastroesophageal reflux, Dysphagia, ... ORPHA:589821
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive OMIM:228600
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Diarrhea OMIM:601979
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Weight... ORPHA:677
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... ORPHA:699
Helix Syndrome
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypermagnesemia, Hypohidrosis, Hypokalemia OMIM:617671
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating alpha-fetoprotein concentration, Anorexia, Abdominal distention, Diarrhea, W... ORPHA:100085
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Fanconi Anemia, Complementation Group O
Neonatal death, Cryptorchidism, Rectal atresia, Anal atresia OMIM:613390
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, Male hyp... ORPHA:91347
Immunodeficiency 87 And Autoimmunity
Villous atrophy, Hypertriglyceridemia, Atrophic gastritis, Necrotizing enterocolitis, Elevated ci... OMIM:619573
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Weight loss, Abn... ORPHA:54251
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
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... OMIM:162300
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Decreased circulating parathyroid ho... OMIM:240300
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Decreased circulating aldosterone level, Adr... OMIM:202010
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... OMIM:201750
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Secretory diarrhea, Abnormal blood ion concentration, Colitis, Hypoalbuminemia, Hypocalcemia, Vom... ORPHA:37042
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diarrhea, Esophageal va... ORPHA:264580
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Dracunculiasis
Nausea and vomiting, Diarrhea ORPHA:231
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Diarrhea, Hypoproteinemia ORPHA:99828
Immunodeficiency 19
Failure to thrive, Chronic diarrhea OMIM:615617
Autoinflammatory-Pancytopenia Syndrome
Type I diabetes mellitus, Failure to thrive, Chronic diarrhea, Intestinal inflammation OMIM:619858
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism, Hyperkalemia OMIM:145260
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Abnormal endocrine physiology, Hyperthyroidism, Elevated circula... ORPHA:562
Immunodeficiency 40
Intermittent diarrhea, Focal active colitis, Chronic diarrhea, Rectal fistula OMIM:616433
Autosomal Agammaglobulinemia
Diarrhea, Failure to thrive, High palate, Malabsorption ORPHA:33110
Encephalopathy, Ethylmalonic
Failure to thrive, Elevated circulating butyrylcarnitine concentration, Chronic diarrhea, Feeding... OMIM:602473
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Malabsorption, Hypothyroidism, Diarrhea, Thyroiditis, Hypocalcemic tetany,... ORPHA:83471
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Failure to thrive, Chronic diarrhea OMIM:619484
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malabsorption, Protruding tongue, Diarrhea, Macroglossia, Failure to thrive OMIM:242860
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Decreased liver... ORPHA:167
Congenital Toxoplasmosis
Diarrhea, Failure to thrive in infancy ORPHA:858
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Weight loss, Abdo... ORPHA:98850
Mccune-Albright Syndrome
Intestinal polyposis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone c... OMIM:174800
Classical Ehlers-Danlos Syndrome
Hiatus hernia, Rectal prolapse, Chronic constipation, Gastroesophageal reflux, Vomiting, Nausea ORPHA:287
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Hypokalemia, Abdominal obesity OMIM:219090
Congenital Disorder Of Glycosylation, Type Iij
Chronic diarrhea, Feeding difficulties, Hepatic failure, Failure to thrive, Recurrent infection o... OMIM:613489
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Weight loss, Ovarian neoplasm, Macroglossia, Glossitis ORPHA:2221
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Erythermalgia, Primary
Hyperhidrosis, Diarrhea, Xerostomia, Constipation OMIM:133020
Pseudohypoaldosteronism Type 2
Nausea and vomiting, Hyperkalemia ORPHA:757
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:1267
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Hyperhidrosis ORPHA:29822
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Hepatocellular carcinoma, Nausea OMIM:176000
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... OMIM:617788
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Diarrhea, Weight loss ORPHA:33276
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Abdominal pain, Increased circulating ferritin concentration, Diarrhea, Ent... OMIM:619802
Yao Syndrome
Abdominal pain, Diarrhea, Xerostomia, Weight loss OMIM:617321
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentrat... OMIM:615084
Proximal Renal Tubular Acidosis
Malabsorption, Diarrhea, Bicarbonaturia, Hypokalemia, Vomiting, Failure to thrive ORPHA:47159
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Inflammation of the large intestine, Colitis OMIM:619281
Sepsis In Premature Infants
Small for gestational age, Elevated circulating C-reactive protein concentration, Abdominal diste... ORPHA:90051
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:228371
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Secretory diarrhea, Vomiting OMIM:616069
Adiposis Dolorosa
Diarrhea, Xerostomia, Obesity, Constipation, Hypothyroidism ORPHA:36397
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum alp... OMIM:226730
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diarrhea, Hepatocellula... ORPHA:79240
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Constipation, Abdominal pain ORPHA:99745
Microvillus Inclusion Disease
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Diarrhea, Feeding difficulti... ORPHA:231226
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Relapsing Fever
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Elevated circula... ORPHA:91547
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Thyroiditis, Inf... ORPHA:436159
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
American Trypanosomiasis
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia ORPHA:3386
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Vomiting, Tube feeding OMIM:619510
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Hereditary Folate Malabsorption
Nausea and vomiting, Anorexia, Diarrhea, Gastroesophageal reflux, Failure to thrive, Glossitis ORPHA:90045
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size OMIM:300215
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Chronic diarrhea, Hypohidrosis, Inflammation of the large intest... ORPHA:98813
Developmental And Epileptic Encephalopathy 50
Diarrhea, Failure to thrive, Hyperammonemia, Dysphagia OMIM:616457
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Immunodeficiency 15B
Failure to thrive, Chronic diarrhea OMIM:615592
Immunodeficiency 46
Failure to thrive, Chronic diarrhea OMIM:616740
Dpm1-Cdg
Elevated circulating creatine kinase concentration, High, narrow palate, Diarrhea, Failure to thr... ORPHA:79322
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating creatine kinase concentration, Chronic diarrhea, Esophageal varix, Hypohidro... OMIM:614576
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Poor appetite, Abdominal pain, Diarrhea, Melena,... ORPHA:319218
Graft Versus Host Disease
Abdominal pain, Diarrhea, Gastrointestinal inflammation, Vomiting, Recurrent gastroenteritis, Hyp... ORPHA:39812
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Diabetes mellitus, Anorexia ORPHA:49827
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Elevated circulating C-reactive protein concentration, Abdominal pa... OMIM:617099
Erythroderma Desquamativum
Diarrhea, Failure to thrive ORPHA:314
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Diarrhea, Thyrotoxicosis with diffuse goiter, Activat... ORPHA:424
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Aganglionic megacolon, Hypercalcemia, Thyroid C cell hyperplasia,... ORPHA:653
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Diarrhea, Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease OMIM:616100
Coffin-Lowry Syndrome
Rectal prolapse, High palate, Narrow palate, Decreased body weight OMIM:303600
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Conjugated hyperbilirubinemia, Abdominal distention, Hyperkalemia, Hyp... OMIM:618528
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur... ORPHA:343
Classic Galactosemia
Decreased serum insulin-like growth factor 1, Cryptorchidism, Diarrhea, Feeding difficulties, Vom... ORPHA:79239
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Diarrhea, Failure to thrive ORPHA:277
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Feeding difficulties, Bloody diarrhea OMIM:615119
Car T Cell Therapy-Associated Cytokine Release Syndrome
Poor appetite, Diarrhea, Elevated circulating creatinine concentration, Vomiting, Hyperbilirubine... ORPHA:542323
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Elevated circulating creatine kinase concentration, Hy... ORPHA:99826
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Diarrhea, Failure to thrive, Weight loss ORPHA:1842
Distal Renal Tubular Acidosis
Poor appetite, Diarrhea, Hypokalemia, Vomiting, Constipation, Failure to thrive ORPHA:18
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor... OMIM:171400
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Protracted diarrhea, Decreased circulating beta-2-microglobulin level, Failure to thriv... ORPHA:572
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperparathyroidism, Hyperkalemia OMIM:620366
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Chronic diarrhea OMIM:615285
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Hypergonadotropic hypogonadism, Feeding difficulties in infancy, Hypothyroidism,... OMIM:212065
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Failure to thrive, Vomiting, Increased circulating free fatty acid level OMIM:610768
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Protracted diarrhea, Colitis, Failure to thrive OMIM:209920
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Diarrhea, Feeding difficulti... ORPHA:231214
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Diarrhea, Hypertriglyceridemia, Hypoplasia of the t... OMIM:619313
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Chronic diarrhea, Ileus, Type I diabetes mellitus, Failure to thrive, Hypothyroi... OMIM:304790
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Chronic diarrhea, Hypoplasia of the thymus OMIM:300400
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Polycystic ovaries, F... ORPHA:2176
Pediatric-Onset Graves Disease
Nausea and vomiting, Puberty and gonadal disorders, Diarrhea, Thyrotoxicosis with diffuse goiter,... ORPHA:525731
Congenital Myopathy 20
Failure to thrive, Chronic diarrhea, High palate OMIM:620310
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,... ORPHA:100078
Familial Mediterranean Fever
Elevated circulating C-reactive protein concentration, Abdominal pain, Orchitis, Diarrhea, Perito... OMIM:249100
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, V... ORPHA:470
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Diarrhea, Failure to thrive, Vomiting OMIM:560000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Pancreatitis, Hyperlipidemia, Diarrhea, Enterocolitis, Hepatocellular adeno... ORPHA:79259
Leukocyte Adhesion Deficiency, Type I
Chronic diarrhea, Rectal abscess, Elevated circulating C-reactive protein concentration OMIM:116920
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Colitis, Crohn's disease, Ulcerative colitis OMIM:618394
Microgastria-Limb Reduction Defect Syndrome
Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tra... ORPHA:2538
Cutaneous Mastocytoma
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79455
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, Diarrhea, El... OMIM:608836
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Pancreatic fibrosis, Small for gestational age, Anorexia, Malabsorption, Hepatic... OMIM:557000
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea, High palate OMIM:614069
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro... ORPHA:139411
Beta-Ketothiolase Deficiency
Anorexia, Diarrhea, Hyperammonemia, Weight loss, Vomiting, Hyperuricemia ORPHA:134
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive ORPHA:51188
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Familial Gestational Hyperthyroidism
Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hor... ORPHA:99819
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Failure to thrive OMIM:618495
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Complement Component 4B Deficiency
Chronic diarrhea OMIM:614379
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr... ORPHA:309031
Immunodeficiency 31C
Villous atrophy, Diabetes mellitus, Diarrhea, Weight loss, Gastrointestinal eosinophilia, Protein... OMIM:614162
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Pituitary adenoma, Adenomatous colonic polyposis, Diarrhea,... ORPHA:99818
Lysinuric Protein Intolerance
Hypolysinemia, Protein avoidance, Increased circulating ferritin concentration, Diarrhea, Malnutr... OMIM:222700
Caspase 8 Deficiency
Failure to thrive, Chronic diarrhea OMIM:607271
Omenn Syndrome
Hypoplasia of the thymus, Diarrhea, Failure to thrive, Hypoproteinemia OMIM:603554
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... ORPHA:2241
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Intestinal edema, Abdominal pain OMIM:106100
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Bloody diarrhea, Hematochezia, Inflammatio... OMIM:617718
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Fructose-1,6-Bisphosphatase Deficiency
Reye syndrome-like episodes, Diarrhea, Vomiting, Hyperuricemia, Hyperalaninemia, Neonatal hyperbi... ORPHA:348
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Abdominal pain, Chronic diarrhea, Hematochezi... OMIM:615895
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting ORPHA:79456
Paroxysmal Nocturnal Hemoglobinuria
Esophageal spasms, Decreased serum iron, Odynophagia, Dysphagia, Episodic abdominal pain, Unconju... ORPHA:447
Wild Type Attr Amyloidosis
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Intermittent dia... ORPHA:330001
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea OMIM:619446
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Intermittent diarrhea, Failure to thrive, Elevated circulating C-reactive ... OMIM:619644
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... ORPHA:100050
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Gastrointestinal atresia, B... ORPHA:436252
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Acrodermatitis Enteropathica
Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Furrowed tongue, Weight loss, Failure t... ORPHA:37
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Diarrhea, Failure to thrive secondary to recurrent infections, Protracted diarrhea ORPHA:169160
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia, Secretory diarrhea, Hyperhidrosis OMIM:614441
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Hyperthyroidism, High palate, Cleft palate OMIM:170390
Shwachman-Diamond Syndrome 2
Diarrhea, Steatorrhea, High palate, Hyperechogenic pancreas, Failure to thrive, Exocrine pancreat... OMIM:617941
Immunodeficiency, Common Variable, 2
Diarrhea OMIM:240500
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... ORPHA:447877
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Macroglossia, Chronic diarrhea OMIM:618523
Glycogen Storage Disease Ia
Pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Protuberant abdomen, Hepatocellular car... OMIM:232200
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis, Failure to thrive in infancy, Hypohidrosis OMIM:301220
Mevalonic Aciduria
Failure to thrive in infancy, Elevated circulating creatine kinase concentration, Elevated circul... OMIM:610377
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea OMIM:612692
Immunodeficiency 9
Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to... OMIM:612782
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Diarrhea, Vomiting ORPHA:3240
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Elevated circulating C-reactive protein concentration, Abdominal pain, Or... ORPHA:32960
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Diarrhea, Hyperammonemia, Weight loss,... ORPHA:20
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Immunodeficiency 17
Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent gastroenteritis, ... OMIM:615607
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting OMIM:142680
Immunodeficiency 56
Failure to thrive, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Hepatic f... OMIM:615207
Immunodeficiency 7
Diarrhea, Failure to thrive OMIM:615387
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Weight loss ORPHA:411703
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Thyroiditis, Inflammation of the large int... OMIM:614700
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Abdominal pain, Diarrhea, Peritonitis, Elevat... ORPHA:36234
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... OMIM:115470
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea OMIM:616355
Syndromic Diarrhea
Villous atrophy, Gastritis, Small for gestational age, Bloody diarrhea, Colitis, Hypoplasia of th... ORPHA:84064
Cerebrotendinous Xanthomatosis
Diarrhea, Xanthelasma, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis, Ch... OMIM:213700
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased circulating c... ORPHA:3337
Biotinidase Deficiency
Feeding difficulties in infancy, Diarrhea, Vomiting, Hyperammonemia OMIM:253260
Autosomal Dominant Severe Congenital Neutropenia
Diarrhea, Recurrent infection of the gastrointestinal tract, Recurrent aphthous stomatitis, Abdom... ORPHA:486
Hemorrhagic Fever-Renal Syndrome
Abdominal pain, Hematemesis, Diarrhea, Hyperkalemia, Elevated circulating creatinine concentratio... ORPHA:340
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Malabsorption, Orchitis, Abdo... ORPHA:342
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Lassa Fever
Nausea and vomiting, Abdominal pain, Diarrhea, Dysphagia ORPHA:99824
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Abdominal pain, Ileus, Hypohidrosis, Constipation, Hypogonadism, Microcolon ORPHA:163746
Malakoplakia
Abdominal pain, Orchitis, Diarrhea, Neoplasm of the rectum, Neoplasm of the colon ORPHA:556
Birk-Landau-Perez Syndrome
Feeding difficulties, Hyperkalemia, Failure to thrive in infancy, Increased circulating creatine ... OMIM:617595
Melas
Hypoparathyroidism, Diabetes mellitus, Intestinal pseudo-obstruction, Hypogonadotropic hypogonadi... ORPHA:550
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abdominal pain, Esophage... ORPHA:36426
Systemic Capillary Leak Syndrome
Abdominal pain, Diarrhea, Pancreatitis, Weight loss ORPHA:188
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Chronic diarrhea, Rectal abscess OMIM:601495
Specific Granule Deficiency 2
Intractable diarrhea, Failure to thrive OMIM:617475
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Thyroiditis, Type I diabetes mel... OMIM:606367
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Peritonitis, Diarrhea, Gastroin... ORPHA:727
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Neuroendocrine neoplasm, Carcinoid tumor ORPHA:100084
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Failure to thrive, Chronic diarrhea, Decreased LDL chole... ORPHA:14
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Odynophagia, Diarrhea, Fulminant hepatitis... ORPHA:319213
Scorpion Envenomation
Acute pancreatitis, Increased circulating NT-proBNP concentration, Abdominal pain, Diarrhea, Hype... ORPHA:466677
Immunodeficiency, Common Variable, 1
Diarrhea OMIM:607594
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa... OMIM:615962
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal... OMIM:613385
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptorchidism, Gast... ORPHA:93932
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Immunodeficiency, Common Variable, 7
Chronic diarrhea OMIM:614699
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Testicular neoplasm, Adrenocortical carcinoma, Ovarian neoplasm, Neopla... ORPHA:524
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... ORPHA:249
Hartsfield Syndrome
Cryptorchidism, Gonadotropin deficiency, Cleft palate, Hypernatremia, Diabetes insipidus OMIM:615465
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Bloody diarrhea, Hematochezia, ... ORPHA:464321
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Diarrhea, Recurrent aphthous stomatitis OMIM:150550
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Cryptorchidism, Feeding difficulties in infancy, Chronic diarrhea, Chronic constipati... ORPHA:500055
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... ORPHA:2131
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Hyperhidrosis, Constipation, Gastroesophageal reflux OMIM:608643
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Neuroblastoma, Susceptibility To, 1
Abdominal pain, Diarrhea, Failure to thrive, Weight loss OMIM:256700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention, Microcolon OMIM:619362
Trichohepatoenteric Syndrome 1
Villous atrophy, Small for gestational age, Hepatic failure, Increased serum iron, Hypoalbuminemi... OMIM:222470
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Chronic diarrhea OMIM:619824
Rothmund-Thomson Syndrome Type 1
Calcinosis, Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of the ga... ORPHA:221008
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Feeding difficulties, Constipation, High palate, Intermittent diarrhea, Failure to thrive OMIM:618050
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematemesis, Increased circulating ferritin concentration, Diarrhea, Bloody d... OMIM:615846
Boutonneuse Fever
Diarrhea, Nausea, Abdominal pain ORPHA:83313
Neuropathy, Hereditary Sensory And Autonomic, Type V
Anhidrosis, Diarrhea, Constipation OMIM:608654
Zygomycosis
Gastrointestinal hemorrhage, Diabetes mellitus, Gastritis, Abdominal pain, Hematemesis, Pancreati... ORPHA:73263
Trichohepatoneurodevelopmental Syndrome
Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophageal reflux, High palate, Incre... OMIM:618268
Fabry Disease
Abdominal pain, Diarrhea, Tenesmus, Hypohidrosis, Vomiting, Delayed puberty, Nausea OMIM:301500
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic diarrhea, Colitis, Stomatitis, Failure to thrive, Recurrent infection of the gastrointest... ORPHA:911
Mucopolysaccharidosis, Type Iiic
Diarrhea, Dysphagia OMIM:252930
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:93552
Cold Agglutinin Disease
Nausea and vomiting, Diarrhea ORPHA:56425
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
Deeah Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Malabsorpti... OMIM:619004
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Nausea ORPHA:98849
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Microphthalmia With Linear Skin Defects Syndrome
Feeding difficulties, Abnormal rectum morphology, Failure to thrive, Abnormal testis morphology, ... ORPHA:2556
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Hypogonadism OMIM:601675
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Ovarian cyst, C... ORPHA:454840
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Elevated circulating creatine kinase concentration,... OMIM:614921
Omenn Syndrome
Failure to thrive, Chronic diarrhea, Hypothyroidism, Thyroiditis ORPHA:39041
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Esophageal stricture, Chronic diarrhea, Oral leukoplakia OMIM:613989
Rothmund-Thomson Syndrome Type 2
Calcinosis, Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of the ga... ORPHA:221016
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Diarrhea, Recurrent gastroenteritis, Inappropriate antidiuretic hor... ORPHA:79124
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Diarrhea, Anorexia, Malabsorption ORPHA:33226
Immunodeficiency 58
Helicobacter pylori infection, Chronic diarrhea, Colitis, Recurrent aphthous stomatitis, Esophagi... OMIM:618131
Mucopolysaccharidosis, Type Ii
Macroglossia, Diarrhea, Intestinal pseudo-obstruction OMIM:309900
Ethylene Glycol Poisoning
Gastritis, Hyperkalemia, Vomiting, Hypocalcemia, Nausea ORPHA:31826
Fraser Syndrome 2
Intestinal malrotation, Abdominal distention, Rectal atresia, Hypoplasia of the thymus, Anal atresia OMIM:617666
Good Syndrome
Diabetes mellitus, Diarrhea, Thymoma, Dysphagia, Aplasia/Hypoplasia of the thymus ORPHA:169105
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Abnormality of the endocrine system, Diarrhea, Esophageal carcinoma, Enterocolit... ORPHA:391487
Orofaciodigital Syndrome Type 4
Decreased testicular size, Monorchism, High, narrow palate, Submucous cleft hard palate, Rectal a... ORPHA:2753
Reactive Arthritis
Abdominal pain, Diarrhea, Weight loss, Inflammation of the large intestine, Recurrent aphthous st... ORPHA:29207
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Hepatic failure OMIM:619431
Young-Onset Parkinson Disease
Diarrhea, Constipation, Nausea, Gastroparesis ORPHA:2828
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... ORPHA:1359
Immunodeficiency 22
Diarrhea, Failure to thrive, Protracted diarrhea OMIM:615758
Microphthalmia, Syndromic 1
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, Cryptorchidism, Hi... OMIM:309800
Amyloidosis, Hereditary, Transthyretin-Related
Episodic vomiting, Diarrhea, Constipation OMIM:105210
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Diarrhea, Abdominal pain ORPHA:36412
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn... ORPHA:273
Complement Component 5 Deficiency
Intractable diarrhea OMIM:609536
Transcobalamin Ii Deficiency
Diarrhea, Failure to thrive, Vomiting OMIM:275350
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea ORPHA:324636
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 Iiib
Diarrhea OMIM:252920
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Panhypopituitarism, Decreased testicular size OMIM:300953
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea OMIM:619849
Mucopolysaccharidosis, Type Iiia
Diarrhea OMIM:252900
Cocaine Intoxication
Elevated circulating creatine kinase concentration, Abdominal pain, Intestinal perforation, Blood... ORPHA:90068
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Chronic diarrhea, Aplasia of the thymus OMIM:242700
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Reye syndrome-like episodes, Diarrhea, Abdominal distention, Hepatic failu... OMIM:256810
Immunodeficiency 59 And Hypoglycemia
Chronic diarrhea, High palate, Recurrent aphthous stomatitis, Malabsorption OMIM:233600
Serotonin Syndrome
Diarrhea, Hepatic failure, Nausea, Hyperhidrosis ORPHA:43116
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... OMIM:618213
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Abdominal distention, Peritonitis, Microcolon, Ileal atresia OMIM:619351
Rothmund-Thomson Syndrome
Calcinosis, Small for gestational age, Nasogastric tube feeding in infancy, Diarrhea, Vomiting ORPHA:2909
Yellow Fever
Acute pancreatitis, Elevated circulating creatine kinase concentration, Abdominal pain, Hematemes... ORPHA:99829
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate ORPHA:457279
Microsporidiosis
Cachexia, Anorexia, Abdominal pain, Pancreatitis, Abnormality of the parathyroid gland, Chronic d... ORPHA:2552
Riddle Syndrome
Abdominal pain, Diarrhea, Elevated circulating alpha-fetoprotein concentration, Weight loss ORPHA:420741
Immunodeficiency With Hyper-Igm, Type 1
Stomatitis, Diarrhea, Failure to thrive OMIM:308230
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Failure to thrive OMIM:620233
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Failure to thrive ORPHA:276
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Diarrhea ORPHA:90035
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Diarrhea, Feeding difficulties, Vomiting, Recurr... OMIM:606721
Immunodeficiency 47
Decreased circulating copper concentration, Chronic diarrhea, Hypercholesterolemia, Failure to th... OMIM:300972
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Elevated circulating alpha-fetoprotein concentration, Feeding difficulties in infa... ORPHA:280633
Rat-Bite Fever
Diarrhea, Weight loss, Vomiting, Pancreatitis, Parotitis ORPHA:31205
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Aplasia of the thymus, Diarrhea, Chronic diarrhea, Failure to thrive OMIM:102700
Sandhoff Disease
Chronic diarrhea, Hyperhidrosis, Hypohidrosis, Macroglossia, Episodic abdominal pain OMIM:268800
Sapho Syndrome
Malabsorption, Abdominal pain, Chronic diarrhea, Inflammation of the large intestine, Steatorrhea ORPHA:793
Immunodeficiency 92
Chronic diarrhea, Esophagitis OMIM:619652
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrosis, Chronic diarrhea, Hypohidrosis, Aplasia of the sweat glands, Failure to thrive, Recur... OMIM:612132
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Diarrhea, Episodic vomiting, Vomiting OMIM:618321
Acute Radiation Syndrome
Diarrhea, Vomiting ORPHA:454831
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Neoplasm of the adrenal cortex, Cachexia, Abnormal large intestine morpholo... ORPHA:109
Chronic Graft Versus Host Disease
Anorexia, Abdominal pain, Esophageal stricture, Diarrhea, Xerostomia, Weight loss, Abnormal esoph... ORPHA:99921
Ataxia-Telangiectasia
Diabetes mellitus, Female hypogonadism, Elevated circulating alpha-fetoprotein concentration, Chr... OMIM:208900
Dubowitz Syndrome
Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft ha... OMIM:223370
Mucopolysaccharidosis, Type Iiid
Macroglossia, Diarrhea, Tube feeding, Dysphagia OMIM:252940
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Small for gestational age, Intestinal malrotation, Neonatal insulin-dependent ... ORPHA:2255
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Chronic diarrhea ORPHA:169154
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Failure to thrive, Unconjugated hyperbilirubinemia, Feeding difficulties OMIM:618278
Exercise-Induced Malignant Hyperthermia
Anhidrosis, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, ... ORPHA:466650
Immunodeficiency, Common Variable, 14
Chronic diarrhea OMIM:617765
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Acute Liver Failure
Gastrointestinal hemorrhage, Diarrhea, Hyperammonemia, Vomiting, Adrenal insufficiency, Nausea ORPHA:90062
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding ORPHA:221139
Alg9-Cdg
Villous atrophy, Diarrhea, Hypoplasia of the ovary, Gastroesophageal reflux, Hypoplastic nipples,... ORPHA:79328
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, Chronic diarrhea, Rectovaginal fistula, Failur... ORPHA:35078
Crimean-Congo Hemorrhagic Fever
Nausea and vomiting, Acute pancreatitis, Elevated circulating creatine kinase concentration, Anor... ORPHA:99827
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hi... OMIM:304150
Immunodeficiency 25
Protracted diarrhea OMIM:610163
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Chronic diarrhea, Aplasia of the thymus OMIM:602450
Idiopathic Hypereosinophilic Syndrome
Malabsorption, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, Chronic dia... ORPHA:3260
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Diarrhea, Prostatitis, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:307200
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, Chronic diarrhea, Chronic constipation, High palate, Decreased body weight OMIM:619005
Nijmegen Breakage Syndrome
Anal stenosis, Diarrhea, Cleft palate, Recurrent infection of the gastrointestinal tract, Anal at... OMIM:251260
Goodpasture Syndrome
Weight loss, Increased blood urea nitrogen OMIM:233450
Nijmegen Breakage Syndrome
Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Cleft palate, Anal atresia ORPHA:647
Wiskott-Aldrich Syndrome
Hematemesis, Diarrhea, Chronic diarrhea, Ulcerative colitis, Melena, Inflammation of the large in... OMIM:301000
Hyper-Igd Syndrome
Diarrhea, Chronic diarrhea, Vomiting, Abdominal pain OMIM:260920
Farber Disease
Failure to thrive, Chronic diarrhea, Hepatic failure, Feeding difficulties ORPHA:333
Ogden Syndrome
Tube feeding, Maternal diabetes, Cryptorchidism, Diarrhea, Narrow palate, Feeding difficulties, H... OMIM:300855
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Diabetes mellitus, Intestinal malrotation, Colon perforati... OMIM:600001
Plague
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis, Bloody diarrhea, Inflammation of ... ORPHA:707
Selective Igm Deficiency
Chronic diarrhea, Thyroid carcinoma, Crohn's disease, Stomach cancer, Recurrent infection of the ... ORPHA:331235
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Cryptorchidism, Chron... OMIM:615873
Mucoepithelial Dysplasia, Hereditary
Melena, Chronic diarrhea, Furrowed tongue OMIM:158310
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Protracted diarrhea ORPHA:331206
Leukocyte Adhesion Deficiency Type Ii
Small for gestational age, Protruding tongue, Chronic diarrhea, Narrow palate, Recurrent gastroen... ORPHA:99843
Neonatal Inflammatory Skin And Bowel Disease
Recurrent gastroenteritis, Anal fissure, Perianal dermatitis, Bloody diarrhea ORPHA:294023
Ectodermal Dysplasia-Skin Fragility Syndrome
Abnormal tongue morphology, Chronic diarrhea, Hypohidrosis, Anoperineal fistula, Failure to thrive ORPHA:158668
Sacral Defect With Anterior Meningocele
Constipation, Rectal abscess OMIM:600145
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia ORPHA:3164
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Zttk Syndrome
Absent gallbladder, Feeding difficulties in infancy, Submucous cleft hard palate, Chronic diarrhe... OMIM:617140
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea, Hyperhidrosis OMIM:167100
Mucopolysaccharidosis Type 3
Malabsorption, Macroglossia, Constipation, Protuberant abdomen, Dysphagia, Intermittent diarrhea ORPHA:581
Diamond-Blackfan Anemia 21
Chronic diarrhea, Obesity OMIM:620072
Immunodeficiency 36 With Lymphoproliferation
Chronic diarrhea OMIM:616005
Hurler Syndrome
Macroglossia, Chronic diarrhea, Feeding difficulties ORPHA:93473
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Rectal abscess OMIM:608203
Listeriosis
Abdominal pain, Diarrhea, Peritonitis, Vomiting, Nausea ORPHA:533
Kawasaki Disease
Nausea and vomiting, Diarrhea, Glossitis, Abdominal pain ORPHA:2331
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Abdominal distention, Diarrhea, Xero... ORPHA:95455
Wiskott-Aldrich Syndrome
Hematemesis, Chronic diarrhea, Hematochezia, Inflammation of the large intestine, Hypoplasia of t... ORPHA:906
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, High, narrow palate, Hypokalemia, Gastrointestinal infarctions, Abnormal intestin... ORPHA:286
Penile Agenesis
Maternal diabetes, Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula, ... ORPHA:49
Leptospirosis
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Hyperproteinemia ORPHA:509
Agammaglobulinemia, X-Linked
Chronic diarrhea, Prostatitis, Hepatocellular carcinoma OMIM:300755
African Trypanosomiasis
Abnormality of the endocrine system, Diarrhea, Weight loss, Abnormal prolactin level, Abnormality... ORPHA:3385
Immunodeficiency 55
Diarrhea OMIM:617827
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Hypoth... OMIM:619472
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Rectal abscess OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Rectal abscess OMIM:233690
Restrictive Dermopathy
Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cleft hard palate, Microcolon, Congeni... ORPHA:1662
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Gastroparesis, Failure to thrive in infancy, Feeding difficulties in infancy,... ORPHA:500150
Nmda Receptor Encephalitis
Ovarian teratoma, Neoplasm of the thymus, Diarrhea, Vomiting, Testicular teratoma ORPHA:217253
Chikungunya
Diarrhea, Vomiting ORPHA:324625
Cerebrotendinous Xanthomatosis
Cholelithiasis, Chronic diarrhea, Hypothyroidism ORPHA:909
Granulomatous Disease, Chronic, X-Linked
Rectal abscess OMIM:306400
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Chronic diarrhea ORPHA:217085
Mucopolysaccharidosis Type 2
Macroglossia, Chronic diarrhea ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Chronic diarrhea ORPHA:217093
Aspartylglucosaminuria
Macroorchidism, Macroglossia, Diarrhea OMIM:208400

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc26a3

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 Slc26a3.

No publications found that use IMPC mice or data for Slc26a3.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Slc26a3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc26a3tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc26a3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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