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Gene: Slc9a3 MGI:105064

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Gene Summary

Name:
solute carrier family 9 (sodium/hydrogen exchanger), member 3
Synonyms:
NHE3,  9030624O13Rik,  NHE-3

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating calcium level Slc9a3tm1b(NCOM)Mfgc HET Early adult 4.10×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Hind Leg and Hip

2 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Human diseases caused by Slc9a3 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 Slc9a3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Elevated fecal sodium, Inflammation of the large intestine, Polyhydramnios,... OMIM:616868
Cystic Fibrosis
Malabsorption, Exocrine pancreatic insufficiency ORPHA:586

The table below shows human diseases predicted to be associated to Slc9a3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Lactose Intolerance, Adult Type
Abdominal pain, Diarrhea, Flatulence, Lactose intolerance, Decreased small intestinal mucosa lact... OMIM:223100
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Metabolic acidosis, Dehydration, Diarrhea, Vomiting, Hypote... OMIM:264350
Aa Amyloidosis
Adrenal insufficiency, Malabsorption, Nephrotic syndrome, Chronic kidney disease, Abdominal pain,... ORPHA:85445
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Hyperinsulinemia, Diarrhea, Vomiting, Feeding difficulties in infancy,... OMIM:606528
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Feeding difficulties, Metabolic acidosis, Dehydration, Diar... OMIM:177735
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Lactase Deficiency, Congenital
Metabolic acidosis, Dehydration, Diarrhea, Lactose intolerance, Decreased small intestinal mucosa... OMIM:223000
Sucrase-Isomaltase Deficiency, Congenital
Nephrolithiasis, Malabsorption, Diarrhea, Abdominal pain OMIM:222900
Familial Hypoaldosteronism
Adrenal insufficiency, Decreased circulating aldosterone level, Feeding difficulties, Metabolic a... ORPHA:427
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
5-Oxoprolinase Deficiency
Prolinuria, Enterocolitis, Abdominal pain, Calcium oxalate nephrolithiasis, Diarrhea, Increased l... OMIM:260005
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Renal Tubular Acidosis, Proximal
Proximal renal tubular acidosis, Renal tubular acidosis, Hyperchloremic acidosis OMIM:179830
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Dysmenorrhea, Oligomenorrhea, Irregular menstruation, Hepatocellular carc... ORPHA:370
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Vomiting, Hypercalciuria, Hyperparathyroidism, Nephrocalcinosis OMIM:239199
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Dysmenorrhea, Irregular menstruation, Oligomenorrhea, Myoglobinuria, Hepa... ORPHA:264580
Trehalase Deficiency
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting ORPHA:103909
Enteric Anendocrinosis
Hyperchloremic metabolic acidosis, Malabsorption, Dehydration, Diarrhea, Vomiting, Type I diabete... ORPHA:83620
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Feeding difficulties, Increased serum lactate, Genera... ORPHA:255249
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Metabolic acidosis, Proximal renal tubular acidosis, Increased serum lactate, Oligohydramnios, Co... OMIM:615824
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Metabolic acidosis, Proximal renal tubular acidosis, Impaired renal tubular reabsorption of bicar... OMIM:604278
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Metabolic alkalosis, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circ... ORPHA:369929
Familial Hyperaldosteronism Type Iii
Metabolic alkalosis, Intracranial hemorrhage, Epistaxis, Hypercalciuria, Adrenal hyperplasia, Abn... ORPHA:251274
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Diarrhea, Arrhythmia, Feeding difficulties in infancy, Transient hyperlip... OMIM:255120
Familial Hyperaldosteronism Type Ii
Metabolic alkalosis, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Na... ORPHA:404
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Metabolic acidosis, Dehydration, Vomiting, Hypercalciuria, Distal renal tubular acidosis, Nephroc... OMIM:602722
Coproporphyria, Hereditary
Constipation, Abdominal pain, Tachycardia, Increased urinary porphobilinogen, Elevated urinary de... OMIM:121300
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Acidosis, Increased circulating renin level, Renal salt wasting OMIM:619406
Angioedema, Hereditary, 8
Facial edema, Abdominal pain, Diarrhea, Episodic vomiting, Edema of the dorsum of hands, Angioede... OMIM:619367
Familial Glucocorticoid Deficiency
Constipation, Decreased circulating cortisol level, Diarrhea, Vomiting, Testicular adrenal rest t... ORPHA:361
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Decreased circulating renin level, Metabolic alkalosis, Increased urinary potass... ORPHA:231625
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Sex reversal, Adrenocorticotropic hormone excess, Hyperaldosteronism, Rena... OMIM:613743
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Metabolic acidosis, Polyuria, Hypercalciuria, Adrenal hyperpla... OMIM:613677
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Renal tubular acidosis, Feeding difficulties, Increased serum lactate, ... OMIM:614922
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Uteru... OMIM:146255
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Dysmenorrhea, Irregular menstruation, Oligomenorrhea, Hepatocellular carc... ORPHA:79240
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Decreased circulating renin level, Metabolic alkalosis, Renal cortical adenoma,... ORPHA:231632
Snakebite Envenomation
Neuromuscular dysphagia, Pseudobulbar paralysis, Intracranial hemorrhage, Tachycardia, Diarrhea, ... ORPHA:449285
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Diarrhea, V... ORPHA:85450
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Bowel urgency, Ovarian neoplasm, Constipation, Tricuspid stenosis, Int... ORPHA:100079
Medullary Sponge Kidney
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria ORPHA:1309
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Increased urinary potassium, Polyuria, Hypocalciuria, Hypok... OMIM:607364
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Abnormality of the urinary system, Adrenal hyperplasia, Adreno... OMIM:103900
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration, Villous atrophy, Protracted diarrhea, Malnutrition, Abnormal intestine morphology OMIM:251850
Congenital Short Bowel Syndrome
Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation, Metabolic acidosis... OMIM:615237
Hydroxykynureninuria
Renal tubular acidosis, Metabolic acidosis, Tachycardia, Hypotension, Stomatitis ORPHA:79155
Fanconi-Bickel Syndrome
Renal tubular acidosis, Abdominal distention, Hepatic failure, Metabolic acidosis, Hepatocellular... ORPHA:2088
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia, Cleft palate OMIM:181180
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Abdominal distention, Metabolic alkalosis, Dehydration, Dia... OMIM:214700
Secondary Intestinal Lymphangiectasia
Vomiting, Malabsorption, Intussusception, Right ventricular failure, Lymphedema, Edema, Secondary... ORPHA:90363
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Hepatic failure, Sudden cardiac death, Arrhythmia, Transient hyperlipidem... ORPHA:156
Neuroendocrine Tumor Of The Rectum
Melena, Bowel urgency, Bloody diarrhea, Constipation, Tricuspid regurgitation, Abdominal pain, Hy... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Melena, Bowel urgency, Bloody diarrhea, Constipation, Tricuspid regurgitation, Abdominal pain, Hy... ORPHA:100082
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Alagille Syndrome 2
Renal tubular acidosis, Pulmonic stenosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insuffi... OMIM:610205
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Metabolic acidosis, Glycosuria, Chronic diarrhea, Hypertonic... OMIM:606824
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, H... ORPHA:93111
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Metabolic alkalosis, Increased urinary potassium, Palpitations... ORPHA:231580
Kearns-Sayre Syndrome
Hypoparathyroidism, Renal tubular acidosis, Arrhythmia, Renal Fanconi syndrome, Third degree atri... OMIM:530000
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Hypercholesterol... OMIM:615863
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Elevated fecal sodium, Inflammation of the large intestine, Polyhydramnios,... OMIM:616868
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Ileal Neuroendocrine Tumor
Increased serum serotonin, Hepatic failure, Tricuspid stenosis, Small intestine carcinoid, Right ... ORPHA:100078
Jejunal Neuroendocrine Tumor
Increased serum serotonin, Hepatic failure, Tricuspid stenosis, Small intestine carcinoid, Right ... ORPHA:100077
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Feeding difficulties, Orthostatic hypotension, Dehydrati... ORPHA:556030
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Nephrolithiasis, Renal tubular acidosis OMIM:267300
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hyperchloremic metabolic acidosis, Metabolic acidosis, Anorexia, Distal renal tubular acidosis, I... OMIM:611590
Gitelman Syndrome
Graves disease, Constipation, Metabolic alkalosis, Diarrhea, Type I diabetes mellitus, Proteinuri... ORPHA:358
Neuroendocrine Tumor Of The Colon
Melena, Bowel urgency, Bloody diarrhea, Increased serum serotonin, Tricuspid regurgitation, Abdom... ORPHA:100080
Microvillus Inclusion Disease
Abdominal distention, Abnormal renal physiology, Metabolic acidosis, Hypovolemia, Dehydration, Di... ORPHA:2290
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Abdominal distention, Metabolic acidosis, Vomiting, ... OMIM:619445
Congenital Hypothyroidism
Nephrolithiasis, Abnormality of the thyroid gland, Constipation, Abdominal distention, Macrogloss... ORPHA:442
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Hypovolemic shock, Metabolic acidosis, Dehydration, Glucocortocoid-insensitive pr... ORPHA:171876
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Constipation, Renal juxtaglomerular... OMIM:601678
Addison Disease
Thymoma, Constipation, Decreased circulating cortisol level, Orthostatic hypotension, Diarrhea, I... ORPHA:85138
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... ORPHA:189427
Neuroendocrine Tumor Of Stomach
Melena, Bowel urgency, Increased serum serotonin, Hepatic failure, Facial telangiectasia, Poor ap... ORPHA:100075
Pyruvate Carboxylase Deficiency
Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis OMIM:266150
Proximal Renal Tubular Acidosis
Nephrolithiasis, Hyperchloremic metabolic acidosis, Malabsorption, Aminoaciduria, Hyperuricosuria... ORPHA:47159
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... ORPHA:103907
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Hyperinsulinism Due To Hnf4A Deficiency
Metabolic ketoacidosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tachycardia, Glycosuria,... ORPHA:263455
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Gastroesophageal reflux, Renal tubular acidosis, Hypertrophic cardiomyopathy, Increased serum lac... OMIM:615471
Andersen-Tawil Syndrome
High palate, Renal tubular dysfunction, Torsade de pointes, Abnormal T-wave, Premature ventricula... ORPHA:37553
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... ORPHA:556037
Duodenal Neuroendocrine Tumor
Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Right ventricular failure, Pal... ORPHA:100076
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d... OMIM:602522
Combined Malonic And Methylmalonic Aciduria
Dehydration, Methylmalonic aciduria, Diarrhea, Vomiting, Ketoacidosis OMIM:614265
Non-Functioning Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Vomiting, Erectile dysfun... ORPHA:91349
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephrogenic diabetes insipidus, Renal tubular acidosis, Aminoaciduria, Metabolic acidosis, Nephro... OMIM:613404
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Ascites, Abnormal esophagus physiology, ... ORPHA:2198
Systemic Capillary Leak Syndrome
Pulmonary edema, Pancreatitis, Abdominal pain, Abnormal renal tubule morphology, Diarrhea, Arrhyt... ORPHA:188
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Nausea, Hypertension, E... ORPHA:403
Pearson Marrow-Pancreas Syndrome
Malabsorption, Exocrine pancreatic insufficiency, 3-Methylglutaric aciduria, Steatorrhea, Metabol... OMIM:557000
Vici Syndrome
High palate, Renal tubular acidosis, Feeding difficulties, Feeding difficulties in infancy, Urete... ORPHA:1493
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hypernatriuria, Poly... OMIM:613090
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Leigh Syndrome With Cardiomyopathy
Decreased liver function, Renal tubular acidosis, Renal agenesis, Abnormal renal tubule morpholog... ORPHA:70474
East Syndrome
Metabolic alkalosis, Increased circulating renin level, Renal magnesium wasting, Renal sodium was... ORPHA:199343
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Tenesmus, Sterc... ORPHA:209964
Cholera
Abdominal cramps, Abnormality of renal excretion, Acidosis, Abdominal pain, Hypovolemic shock, De... ORPHA:173
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, D... ORPHA:90794
Attrv30M Amyloidosis
Impotence, Constipation, Abnormal renal physiology, Diarrhea, Arrhythmia, Nephropathy, Cardiomyop... ORPHA:85447
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Proprotein Convertase 1/3 Deficiency
Malabsorption, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Primary ameno... OMIM:600955
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Dehydration, Vomiting, Hypotension, Increased circulatin... OMIM:203400
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Anorexia, Diarrhea, Vomiting, Shock, Edema, Abnormal intestine morphology, Secretory diarrhea OMIM:600351
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... ORPHA:95619
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Renal tubular acidosis, Abdominal... OMIM:248250
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrogenic diabetes insipidus, Renal tubular acidosis, Renal tubular atrophy, Reduced renal cort... OMIM:208085
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary urgency, Hypotension, Urinary incontinence OMIM:156310
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Ethylene Glycol Poisoning
Renal tubular dysfunction, Gastritis, Pulmonary edema, Metabolic acidosis, Tachycardia, Hematuria... ORPHA:31826
Intestinal Dysmotility Syndrome
High palate, Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased... OMIM:620045
Necrotizing Enterocolitis
Bloody diarrhea, Acidosis, Abdominal distention, Metabolic acidosis, Increased serum lactate, Per... ORPHA:391673
Acute Adrenal Insufficiency
Constipation, Decreased circulating cortisol level, Orthostatic hypotension, Diarrhea, Increased ... ORPHA:95409
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Constipation, Increased urinary pot... OMIM:241200
Bartter Syndrome Type 4
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Chronic kidney disease, Impaired re... ORPHA:89938
Diarrhea 4, Malabsorptive, Congenital
Hyperchloremic metabolic acidosis, Dehydration, Diarrhea, Vomiting OMIM:610370
Hirschsprung Disease
Constipation, Abdominal pain, Diarrhea, Intestinal obstruction, Intestinal polyposis, Nausea and ... ORPHA:388
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
High palate, Renal tubular dysfunction, Decreased liver function, Aminoaciduria, Hypertrophic car... OMIM:220110
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hepatic failure, Diarrhea, Vomiting, Esophageal varix, Feeding difficulties, Dehydra... ORPHA:275761
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Constipation, Abdominal pain, Metabolic acidosis, ... OMIM:248360
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Visceral Myopathy 1
Constipation, Abdominal distention, Abdominal pain, Pancreatitis, Diarrhea, Vomiting, Polyhydramn... OMIM:155310
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Tachycardia, Arrhythmia, Diarrhea, Hypotension, Vomiting, Reduced left ventricul... ORPHA:542323
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Diarrhea 6
Diarrhea, Abdominal pain OMIM:614616
Visceral Myopathy 2
Megacystis, Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Ne... OMIM:619350
Wild Type Attr Amyloidosis
Nephrotic syndrome, Pulmonary edema, Hypertrophic cardiomyopathy, Orthostatic hypotension due to ... ORPHA:330001
Leigh Syndrome
Renal tubular dysfunction, Nephrotic syndrome, Renal tubular acidosis, Lacticaciduria, Feeding di... ORPHA:506
Secondary Short Bowel Syndrome
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... ORPHA:95427
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Decreased liver function, Aminoaciduria, Hypertrophic cardiomyopathy, ... ORPHA:436271
Hereditary Angioedema Type 1
Intestinal edema, Pharyngeal edema, Facial edema, Abnormal soft palate morphology, Abdominal pain... ORPHA:100050
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Pituitary adenoma, Adrenocorticotropic hormone deficiency, Constipation, Grav... ORPHA:199299
Cocaine Intoxication
Supraventricular arrhythmia, Subarachnoid hemorrhage, Hematuria, Vomiting, Myocardial infarction,... ORPHA:90068
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Pulmonary edema, Abnormal renal tubular resorption, Sudden cardiac death,... ORPHA:73224
Prolactinoma
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Vomiting, Er... ORPHA:2965
Rabies
Anorexia, Sudden cardiac death, Diarrhea, Nausea and vomiting ORPHA:770
Tyrosinemia, Type I
Melena, Paralytic ileus, Hepatic failure, Metabolic acidosis, Acute hepatic failure, Hepatocellul... OMIM:276700
Immunodeficiency 31C
Diarrhea, Hypothyroidism, Villous atrophy, Delayed puberty, Diabetes mellitus, Abnormal intestine... OMIM:614162
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Polyuria, Hypocalciuria, Hypokalemic metabolic alkalosis, Increased circulating renin level, Hype... OMIM:612780
Multiple Endocrine Neoplasia, Type Iia
Medullary thyroid carcinoma, Elevated urinary vanillylmandelic acid, Parathyroid adenoma, Elevate... OMIM:171400
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Feeding difficulties, Metabolic a... ORPHA:411634
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Distal renal tubular acidosis, Nephrocalcinosis, Impaired urinary acidification OMIM:179800
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... ORPHA:2494
Colchicine Poisoning
Abnormality of acid-base homeostasis, Metabolic acidosis, Hypovolemia, Dehydration, Diarrhea, Arr... ORPHA:31824
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Bowel urgency, Elevated circulating growth hormone concentration, Tric... ORPHA:97287
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Diarrhea, Hypertriglyceridemia, Esophageal varix, Hyperch... ORPHA:75234
Leprechaunism
Hyperinsulinemia, Abdominal distention, Hypercalciuria, Long penis, Enlarged kidney, Enlarged ova... ORPHA:508
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Metrorrhagia, Pulmonic stenosis, Mitral regurgit... ORPHA:99147
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Feeding difficulties, Diarrhea, Vomiting, Proximal tubulopathy, Severe lactic acid... OMIM:612075
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Organic aciduria, Pancreatitis, Stress/infection-induced lactic acidosis, Renal tubular acidosis ORPHA:431361
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Cutaneous Mastocytoma
Telangiectasia of the skin, Abdominal pain, Telangiectasia macularis eruptiva perstans, Diarrhea,... ORPHA:79455
Galactosemia I
Hyperchloremic metabolic acidosis, Increased level of galactitol in urine, Decreased liver functi... OMIM:230400
Fructose Intolerance, Hereditary
Transient aminoaciduria, Abdominal pain, Metabolic acidosis, Hyperuricosuria, Proximal renal tubu... OMIM:229600
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Steatorrhea, Hepatic failure, Diarrhea, Vomiting, Renal cyst, Vill... OMIM:602579
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea OMIM:613291
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Constipation, Hematuria, Proteinuria, Nephro... ORPHA:534
Aggressive Systemic Mastocytosis
Abdominal cramps, Decreased liver function, Malabsorption, Abdominal pain, Anorexia, Diarrhea, Hy... ORPHA:98850
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Hyperchloremic metabolic acidosis, Acidosis, Constipation, Aminoacidur... ORPHA:411629
Ganglioneuroma
Episodic abdominal pain, Neoplasm of the adrenal gland, Abnormality of the adrenal glands, Multip... ORPHA:251992
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
High palate, Oligohydramnios, Constipation, Hypotension OMIM:618480
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Enterocolitis, Metabolic acidosis, Tachycardia, D... ORPHA:90051
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest... ORPHA:263665
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Mitochondrial Neurogastrointestinal Encephalomyopathy
Atrophic muscularis propria, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Hyper... ORPHA:298
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Porphyria, Acute Intermittent
Dysuria, Paralytic ileus, Constipation, Abdominal pain, Hepatocellular carcinoma, Elevated urinar... OMIM:176000
Combined Oxidative Phosphorylation Deficiency 55
High palate, Constipation, Stage 3 chronic kidney disease, Increased serum lactate, Renal Fanconi... OMIM:619743
Whipple Disease
Malabsorption, Abdominal pain, Anorexia, Diarrhea, Myocarditis, Hypotension, Hypothyroidism, Myoc... ORPHA:3452
Dengue Fever
Cerebral hemorrhage, Abdominal pain, Diarrhea, Hypotension, Gastrointestinal hemorrhage, Nausea a... ORPHA:99828
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Impotence, Decreased response to grow... ORPHA:91354
Infant Botulism
Constipation, Abdominal pain, Anorexia, Xerostomia, Hypotension, Dysphagia, Hypertension, Cardiac... ORPHA:178478
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Beta-Ketothiolase Deficiency
Ketonuria, Acidosis, Metabolic acidosis, Increased serum lactate, Anorexia, Diarrhea, Dehydration... ORPHA:134
Lujo Hemorrhagic Fever
Abdominal cramps, Odynophagia, Facial edema, Metabolic acidosis, Diarrhea, Vomiting, Myocarditis,... ORPHA:319213
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Metabolic acidosis, Glycosuria, Hematuria, Proteinuria, Stage ... OMIM:219800
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Diarrhea, Hematuria, Vomiting, Proteinuria, Decreas... ORPHA:340
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Nephrolithiasis, Hypergonadotropic hypogonadism, Diarrhea, Arrhythmia, Dilated cardiomyopathy, Na... ORPHA:352447
Serotonin Syndrome
Hepatic failure, Tachycardia, Diarrhea, Hypotension, Nausea, Acute kidney injury, Hypertension, L... ORPHA:43116
Relapsing Fever
Abdominal pain, Abnormality of the urinary system, Tachycardia, Diarrhea, Hematuria, Hypotension,... ORPHA:91547
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Renal Tubular Acidosis Iii
Nephrolithiasis, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Gastroesophageal reflux, Stage 2 chronic kidney disease, Hypospadias, Orthostatic hypotension, Re... OMIM:191800
Eosinophilic Gastroenteritis
Malabsorption, Abdominal pain, Steatorrhea, Diarrhea, Abnormality of the gastrointestinal tract, ... ORPHA:2070
Diarrhea 10, Protein-Losing Enteropathy Type
Metabolic acidosis, Polyuria, Renal dysplasia, Hematochezia, Polyhydramnios, Hypothyroidism, Hype... OMIM:618183
Alg1-Cdg
Decreased liver function, Nephrotic syndrome, Abnormality of the kidney, Abnormality of the gastr... ORPHA:79327
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Vascular Hyalinosis
Malabsorption, Diarrhea, Subarachnoid hemorrhage, Hematochezia, Protein-losing enteropathy OMIM:277175
Immunodeficiency 19
Diarrhea OMIM:615617
Cap Polyposis
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... ORPHA:160148
Thrombotic Thrombocytopenic Purpura
Abdominal pain, Diarrhea, Arrhythmia, Hematuria, Myocardial infarction, Renal insufficiency, Acut... ORPHA:54057
Mpi-Cdg
Decreased liver function, Hyperinsulinemic hypoglycemia, Diarrhea, Vomiting, Hypothyroidism, Prot... ORPHA:79319
Gitelman Syndrome
Constipation, Abdominal pain, Hypokalemic alkalosis, Polyuria, Hypocalciuria, Nocturia, Palpitati... OMIM:263800
Combined Malonic And Methylmalonic Acidemia
Acidosis, Methylmalonic aciduria, Dehydration, Vomiting, Nasogastric tube feeding, Dicarboxylic a... ORPHA:289504
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Impotence, Decreased fertility in males, Central adrenal insufficien... ORPHA:91347
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Legionnaires Disease
Pancreatitis, Abdominal pain, Anorexia, Diarrhea, Arrhythmia, Hematuria, Myocarditis, Hypotension... ORPHA:549
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea OMIM:614102
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Dehydration, Diarrhea, Hematochezia, Protein-losing enteropathy, Edema ORPHA:103910
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis, Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Nephrotic syndrome, Gastritis, Hypospadias, Glandular hypospadias, Diarrhea, Shawl scrotum ORPHA:2575
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Chronic kidney disease, Dyspepsia, Gastroesophageal reflux, Uterine neoplasm... ORPHA:1018
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Eosinophilic infil... ORPHA:411696
Familial Mediterranean Fever
Constipation, Pancreatitis, Diarrhea, Myocardial infarction, Pedal edema, Proteinuria, Pericardit... ORPHA:342
Mercury Poisoning
Episodic abdominal pain, Anorexia, Episodic vomiting, Tachycardia, Hypotension, Nausea, Acute kid... ORPHA:330021
Glutaric Aciduria Iii
Hyperthyroidism, Diarrhea, Vomiting, Glutaric aciduria, Hypertension, Goiter OMIM:231690
Prune Belly Syndrome
Urogenital sinus anomaly, Anal atresia, Constipation, Intestinal atresia, Cryptorchidism, Intesti... ORPHA:2970
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia OMIM:191390
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Galactosemia
Feeding difficulties, Hepatic failure, Oligomenorrhea, Primary amenorrhea, Diarrhea, Vomiting, Se... ORPHA:352
Methanol Poisoning
Permanent atrial fibrillation, Hyperlipidemia, Type II diabetes mellitus, Cerebral hemorrhage, In... ORPHA:31825
Diffuse Cutaneous Mastocytosis
Abdominal pain, Diarrhea, Vomiting, Hypotension, Malnutrition, Gastrointestinal hemorrhage, Peau ... ORPHA:79456
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Malakoplakia
Neoplasm of the rectum, Neoplasm of the colon, Dysuria, Orchitis, Abdominal pain, Diarrhea, Abnor... ORPHA:556
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Adrenocort... ORPHA:913
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal colic ORPHA:35122
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Intractable diarrhea OMIM:613217
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Renal tubular acidosis, High, narrow palate, Feeding difficulties, Metabolic acidosis, Hematochez... OMIM:619575
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Pancreatitis, Metabolic acidosis, Diabetic ketoacidosis, Vasculitis, Hypotension... ORPHA:70578
Analbuminemia
Edema, Oligohydramnios, Hypotension, Hypercholesterolemia OMIM:616000
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Impotence, Odynophagia, Budd-Chiari syndrome, Episodic abdominal pain, He... ORPHA:447
Ppoma
Cholelithiasis, Constipation, Adrenocortical adenoma, Intestinal carcinoid, Neoplasm of the small... ORPHA:97278
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Bloody diarrhea, Pancreatitis, Intussusception, Abdominal pain, Hemoglobinuria, Pe... ORPHA:90038
Fabry Disease
Angina pectoris, Abdominal pain, Diarrhea, Arrhythmia, Vomiting, Hypohidrosis, Myocardial infarct... OMIM:301500
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Diarrhea, Vomiting, Edema, Hypertension OMIM:616069
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Immunodeficiency 104
Diarrhea, Gastroesophageal reflux OMIM:608971
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Tachycardia, Hypotension, Mixed respiratory and metabolic acidosis OMIM:145600
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hyperchloremic metabolic acidosis, Chronic kidney disease, Bicarbonate-w... ORPHA:3337
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Malabsorption, Diarrhea OMIM:229050
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Wolman Disease
Adrenal insufficiency, Abdominal distention, Hepatic failure, Steatorrhea, Adrenal calcification,... ORPHA:75233
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Mccune-Albright Syndrome
Pancreatitis, Abnormal endocrine physiology, Benign gastrointestinal tract tumors, Ovarian cyst, ... ORPHA:562
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Malabsorption, Adrenal insufficiency, Decreased circulating a... OMIM:240300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abdominal distention, Cryptorchidism, Intestinal malrotation, Hydroureter, Multicystic kidney dys... ORPHA:2241
Chylomicron Retention Disease
Steatorrhea, Diarrhea, Vomiting, Hypocholesterolemia, Malnutrition OMIM:246700
Scrub Typhus
Abdominal pain, Hypotension, Myocarditis, Renal insufficiency, Nausea and vomiting, Hyperhidrosis ORPHA:83317
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Hypophosphatasia
Hypercalcemia ORPHA:436
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Bacterial Toxic-Shock Syndrome
Abdominal pain, Metabolic acidosis, Increased serum lactate, Peritonitis, Recurrent urinary tract... ORPHA:36234
Cronkhite-Canada Syndrome
Malabsorption, Abdominal pain, Stomach cancer, Anorexia, Diarrhea, Furrowed tongue, Intestinal po... ORPHA:2930
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Hepatocellular Carcinoma
Budd-Chiari syndrome, Abdominal distention, Type II diabetes mellitus, Metabolic alkalosis, Abdom... ORPHA:88673
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Vomiting, Low-output congestive heart failure, Prolonged ... ORPHA:66529
Reticular Dysgenesis
Dehydration, Malabsorption, Diarrhea, Aplasia/Hypoplasia of the thymus ORPHA:33355
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Gracile Syndrome
Renal Fanconi syndrome, Lactic acidosis ORPHA:53693
Grfoma
Cholelithiasis, Constipation, Adrenocortical adenoma, Intestinal carcinoid, Neoplasm of the small... ORPHA:97261
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Budd-Chiari syndrome, Abdominal pain, Diarrhea, Pulmonary embolism, Vomiting, Inte... OMIM:226300
Osteopetrosis With Renal Tubular Acidosis
High palate, Nephrolithiasis, Secondary hyperparathyroidism, Renal tubular acidosis, Metabolic ac... ORPHA:2785
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Non-Syndromic Posterior Hypospadias
Anal atresia, Abnormality of the endocrine system, Cleft palate, Bifid scrotum, Micropenis, Ureth... ORPHA:95706
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Neuroleptic Malignant Syndrome
Metabolic acidosis, Dehydration, Myoglobinuria, Tachycardia, Pulmonary embolism, Arrhythmia, Hypo... ORPHA:94093
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Diarrhea, Vomiting, Hypothyroidism, Protein-losin... OMIM:608104
Systemic Sclerosis
Myocarditis, Proteinuria, Pericarditis, Albuminuria, Abnormal large intestine morphology, Joint s... ORPHA:90291
Cystinosis
Renal tubular dysfunction, Malabsorption, Nephrogenic diabetes insipidus, Aminoaciduria, Dehydrat... ORPHA:213
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Impotence, Pituitary adenoma, Elevated circulating growth... ORPHA:95613
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Feeding difficulties, Polyhydramnios, Intermittent diarrhea, Malnutrition OMIM:619971
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Classic Galactosemia
Feeding difficulties, Hepatic failure, Oligomenorrhea, Primary amenorrhea, Diarrhea, Vomiting, De... ORPHA:79239
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Fragile X-Associated Tremor/Ataxia Syndrome
Urinary bladder sphincter dysfunction, Impotence, Hypotension, Hypothyroidism, Dysphagia, Hyperte... ORPHA:93256
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatic failure, Hemothorax, Diarrhea, Hematuria, My... ORPHA:99827
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Abdominal cramps, Malabsorption, Early satiety, Constipation, Abdominal pain, Diarrhea, Vomiting,... OMIM:603041
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Renal tubular acidosis, Hepatic failure, Hepatocellular carcin... OMIM:118450
Somatostatinoma
Medullary thyroid carcinoma, Constipation, Steatorrhea, Adrenocortical adenoma, Neoplasm of the s... ORPHA:97283
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Pancreatic adenocarcinoma, Ab... ORPHA:2869
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Abdominal pain, Anorexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, Glossitis,... OMIM:175500
American Trypanosomiasis
Aganglionic megacolon, Abdominal pain, Diarrhea, Arrhythmia, Abnormal large intestine physiology,... ORPHA:3386
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Meningococcal Meningitis
Projectile vomiting, Anorexia, Hypotension, Shock, Renal insufficiency ORPHA:33475
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Multiple Endocrine Neoplasia Type 1
Melena, Pituitary growth hormone cell adenoma, Impotence, Constipation, Increased serum serotonin... ORPHA:652
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Peutz-Jeghers Syndrome
Bladder polyp, Neoplasm of the pancreas, Bloody diarrhea, Intestinal bleeding, Uterine neoplasm, ... OMIM:175200
Botulism
Constipation, Abdominal pain, Xerostomia, Arrhythmia, Diarrhea, Urinary retention, Dysphagia, Nau... ORPHA:1267
Acute Intermittent Porphyria
Dark urine, Ileus, Dysuria, Pseudobulbar paralysis, Constipation, Abdominal pain, Abdominal diste... ORPHA:79276
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Metabolic alkalosis, In... ORPHA:786
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, 3-Methylglutaric aciduria, Metabolic acidosis, Increased serum lactate, Anorexia, Diar... ORPHA:20
Glycogen Storage Disease Iv
Hepatic failure, Hydrops fetalis, Tubulointerstitial fibrosis, Polyhydramnios, Esophageal varix, ... OMIM:232500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Dehydration, Tubulointerstitial fibrosis, Enla... OMIM:263200
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Myopathy, Myofibrillar, 1
Constipation, Restrictive cardiomyopathy, Diarrhea, Third degree atrioventricular block, Dilated ... OMIM:601419
Renal Tubular Dysgenesis
Abnormality of the urinary system, Renotubular dysgenesis, Hypotension, Oligohydramnios, Anuria OMIM:267430
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Mastocytosis
Telangiectasia of the skin, Anorexia, Diarrhea, Arrhythmia, Hypotension, Angioedema, Gastrointest... ORPHA:98292
Marburg Hemorrhagic Fever
Odynophagia, Pancreatitis, Diarrhea, Vomiting, Pericarditis, Bloody diarrhea, Dehydration, Tachyc... ORPHA:99826
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Satoyoshi Syndrome
Amenorrhea, Malabsorption, Hypoplasia of the uterus, Diarrhea OMIM:600705
Multiple Endocrine Neoplasia Type 2
Medullary thyroid carcinoma, Constipation, Elevated circulating parathyroid hormone level, Diarrh... ORPHA:653
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Nipah Virus Disease
Anorexia, Nausea and vomiting, Hypotension ORPHA:99825
Ochoa Syndrome
Constipation, Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral o... ORPHA:2704
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Anal atresia, Abdominal distention, Intestinal malrotation, Ureteral duplication, Polyhydramnios,... OMIM:270420
Lowe Oculocerebrorenal Syndrome
Constipation, Aminoaciduria, Proximal renal tubular acidosis, Renal Fanconi syndrome, Proteinuria... OMIM:309000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Lissencephaly, X-Linked, 2
High palate, Micropenis, Diarrhea, Feeding difficulties in infancy, Ambiguous genitalia, Decrease... OMIM:300215
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Glucag... OMIM:131100
Foodborne Botulism
Constipation, Abdominal pain, Xerostomia, Arrhythmia, Diarrhea, Urinary retention, Dysphagia, Nau... ORPHA:228371
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Microscopic Polyangiitis
Pancreatitis, Abdominal pain, Nausea and vomiting, Peritonitis, Diarrhea, Arrhythmia, Hematuria, ... ORPHA:727
Stevens-Johnson Syndrome
Dysuria, Dyspareunia, Pancreatitis, Abdominal pain, Acute hepatic failure, Sudden cardiac death, ... ORPHA:36426
Fanconi-Bickel Syndrome
Renal tubular dysfunction, Malabsorption, Acidosis, Abdominal distention, Glycosuria, Generalized... OMIM:227810
Brunner Syndrome
Diarrhea OMIM:300615
Vipoma
Benign gastrointestinal tract tumors, Adrenocortical adenoma, Increased circulating prolactin con... ORPHA:97282
Porphyria
Abnormal urinary color, Constipation, Abdominal pain, Anorexia, Diarrhea, Hypertension, Nausea an... ORPHA:738
Pediatric Systemic Lupus Erythematosus
Dark urine, Nephrotic syndrome, Abdominal distention, Nephritis, Abdominal pain, Raynaud phenomen... ORPHA:93552
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Abdominal pain, Hemoglobinuria, Vomiting, Hypotension, Naus... ORPHA:244242
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Glycosuria, Stage 5 chronic kidney disease OMIM:268315
Porphyria Due To Ala Dehydratase Deficiency
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Increased urinary porphobilinogen, ... ORPHA:100924
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Episodic abdominal pain, Intestinal malrotation, Vomiting, Colonic diverticula, Intestinal pseudo... OMIM:243180
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Gastroesophageal reflux, Constipation, Abnormal renal physiology, Orthostatic hypotension, Tachyc... OMIM:223900
Infection-Related Hemolytic Uremic Syndrome
Abdominal cramps, Pancreatitis, Diarrhea, Vomiting, Myocarditis, Generalized edema, Decreased uri... ORPHA:544482
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Lassa Fever
Facial edema, Abdominal pain, Diarrhea, Oliguria, Shock, Menometrorrhagia, Dysphagia, Nausea and ... ORPHA:99824
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Diarrhea, Colitis, Recurrent aphthous stomatitis OMIM:613960
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Glucagonoma
Constipation, Steatorrhea, Adrenocortical adenoma, Diarrhea, Increased circulating prolactin conc... ORPHA:97280
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Pancreatitis, Diarrhea, Hepatocellular adenoma, Enlarged kidney, P... ORPHA:79259
Radiation Proctitis
Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, Abnormal rectum morpholo... ORPHA:70475
Familial Mediterranean Fever
Crohn's disease, Nephrotic syndrome, Orchitis, Episodic abdominal pain, Abdominal pain, Peritonit... OMIM:249100
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Shigellosis
Abdominal cramps, Paralytic ileus, Acute colitis, Bloody mucoid diarrhea, Bloody diarrhea, Abdomi... ORPHA:810
Melas
Constipation, Diarrhea, Vomiting, Type I diabetes mellitus, Proteinuria, Proximal tubulopathy, In... ORPHA:550
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic constipat... ORPHA:261222
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Dicarboxylic aciduria, Ventricular tachycardia, C... OMIM:212138
Hyperprolinemia Type 2
Prolinuria, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Feeding difficu... ORPHA:79101
Carney Triad
Abdominal pain, Gastrointestinal stroma tumor, Anorexia, Adrenocortical adenoma, Pheochromocytoma... ORPHA:139411
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
X-Linked Lissencephaly With Abnormal Genitalia
Malabsorption, Exocrine pancreatic insufficiency, Hypoplasia of penis, Hypohidrosis, Ambiguous ge... ORPHA:452
Immunodeficiency, Common Variable, 11
Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine OMIM:615767
Developmental And Epileptic Encephalopathy 50
Renal tubular acidosis OMIM:616457
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Anal atresia, Aganglionic megacolon, Hydronephrosis OMIM:235760
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abdominal distention, Abnormality of the gastr... ORPHA:1876
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Intestinal malrotation, Hydroureter, Hydronephrosis, Portal hypertension, Microc... OMIM:619431
Non-Acquired Panhypopituitarism
Amenorrhea, Infertility, Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased re... ORPHA:90695
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Diarrhea, Arrhythmia, Dilated cardiomyopathy, Nausea OMIM:615084
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Multiple Endocrine Neoplasia, Type Iib
High palate, Elevated calcitonin, Medullary thyroid carcinoma, Constipation, High, narrow palate,... OMIM:162300
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Bloody diarrhea, Abdominal pain, Pleural empyema, Diarrhea, Constrictive pericardi... ORPHA:67
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Decreased glomerular filtration rate, Hepatocellul... OMIM:232200
Currarino Syndrome
Hypoplasia of penis, Bifid scrotum, Hypospadias, Male pseudohermaphroditism, Abnormal intestine m... ORPHA:1552
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Hypospadias, Cryptorchidism, Hypotension ORPHA:439822
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabsorption, Chronic diarrhea ORPHA:309108
Carcinoid Syndrome
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Episodic abdominal pain, Tricuspid... ORPHA:100093
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Abdominal pain, Duodenal adenocarcinoma, Diarrhea, Hema... OMIM:174900
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Mccune-Albright Syndrome
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... OMIM:174800
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Steatorrhea, Hypergonadotropic hypogonadism, Diarrhea, Nonimmune hydrops feta... OMIM:212065
Central Diabetes Insipidus
Anorexia, Dehydration, Diarrhea, Nocturia, Nausea and vomiting, Diabetes insipidus ORPHA:178029
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Colitis, Diarrhea, Villous atrophy, Chronic diarrhea OMIM:614602
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Budd-Chiari Syndrome
Malabsorption, Abdominal pain, Acute hepatic failure, Peritonitis, Intestinal obstruction, Gastro... ORPHA:131
Poliomyelitis
Paralytic ileus, Hypovolemic shock, Anorexia, Vomiting, Hypotension, Nausea, Dysphagia, Hypertension ORPHA:2912
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Membranoproliferative glomerulonephritis, Type I diabetes mellitus, Prot... OMIM:619858
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Diarrhea, Vomiting OMIM:239350
Aromatic L-Amino Acid Decarboxylase Deficiency
Constipation, Gastroesophageal reflux, Diarrhea, Hypotension, Feeding difficulties in infancy, Hy... OMIM:608643
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Increased level of L-fucose in urine, Esophageal varix... OMIM:215600
Cog7-Cdg
Abnormality of the kidney, Diarrhea, Feeding difficulties ORPHA:79333
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation, Hyperhidrosis OMIM:615548
Mirage Syndrome
Adrenal insufficiency, Gastroesophageal reflux, Hypergonadotropic hypogonadism, Hypospadias, Intr... OMIM:617053
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Hyp... OMIM:243150
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Yao Syndrome
Nephrolithiasis, Abdominal pain, Xerostomia, Diarrhea, Pericarditis OMIM:617321
Lead Poisoning
Renal tubular dysfunction, Infertility, Chronic kidney disease, Abdominal cramps, Decreased male ... ORPHA:330015
Alexander Disease
High palate, Precocious puberty, Constipation, Sudden cardiac death, Hypotension, Hyperhidrosis, ... ORPHA:58
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Intestinal malrotation, Diarrhea, Pancreatic h... OMIM:615710
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Arrhythmia, Hypotension, Oliguria, Dicarboxylic aciduria, Ventricular tachycardi... ORPHA:159
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hypotension, Adrenocorticotropin defici... ORPHA:199296
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea OMIM:613501
Acute Liver Failure
Adrenal insufficiency, Acidosis, Intracranial hemorrhage, Diarrhea, Vomiting, Hypotension, Alkalo... ORPHA:90062
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abdominal pain, Diarrhea, Tachycardia, Hypotension, Syncope, Peptic ulcer, Nausea ORPHA:98849
Distal Renal Tubular Acidosis
Nephrolithiasis, Hyperchloremic metabolic acidosis, Constipation, Aminoaciduria, Decreased glomer... ORPHA:18
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Macroglossia, Hypotension, Shortened PR interval, Ascites, Cardiomyopathy, Conge... OMIM:261740
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatic failure, Steatorrhea, Acute hepatic failure, Adrenal calcification... OMIM:278000
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Tracheoesophageal fistula, Hypospadias, Hypothyroidism, Polyhyd... ORPHA:1923
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Congenital pyloric atresia, Polyhydramnios, Urethrovesical occlusion, Esoph... OMIM:226730
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypophosphatemia, Hypercalcemia OMIM:239200
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Erythermalgia, Primary
Constipation, Palpitations, Diarrhea, Xerostomia, Hyperhidrosis OMIM:133020
Typhoid
Cardiac arrest, Constipation, Abdominal pain, Diarrhea, Arrhythmia, Gastrointestinal hemorrhage, ... ORPHA:99745
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction ORPHA:1380
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Polyuria, Diarrhea, Vomiting, Type I diabetes mellitus, Proximal tubulopathy OMIM:560000
Pure Autonomic Failure
Dysuria, Impotence, Constipation, Orthostatic hypotension, Syncope, Abnormality of circulating ca... ORPHA:441
Inhalational Anthrax
Internal hemorrhage, Abnormal sweat gland morphology, Vomiting, Hypotension ORPHA:247257
Amyloidosis, Hereditary, Transthyretin-Related
Impotence, Constipation, Orthostatic hypotension due to autonomic dysfunction, Diarrhea, Cardiomy... OMIM:105210
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis, Aganglionic megacolon OMIM:235740
African Iron Overload
Abnormal pancreas morphology, Increased circulating cortisol level, Abnormal thyroid morphology, ... ORPHA:139507
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Chylomicron Retention Disease