Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
claudin 17
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Cldn17 mutations

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

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

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

The table below shows human diseases predicted to be associated to Cldn17 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Central Diabetes Insipidus
Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Polydipsia, Nocturia ORPHA:178029
Nephrogenic Diabetes Insipidus
Nausea and vomiting, Renal insufficiency, Hydroureter, Short stature, Anorexia, Functional abnorm... ORPHA:223
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Polyuria, Feeding difficulties in infancy, Megacystis, Vomiting, Constipation, Pol... OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Polyuria, Feeding difficulties in infancy, Megacystis, Vomiting, Constipation, Pol... OMIM:304800
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Nausea, Abdominal pain, Abnormal circulating porphyrin concentration,... ORPHA:100924
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence... ORPHA:2704
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Feeding difficulties in infancy, Hyperkalemia, Growth delay, In... OMIM:203400
Cystinosis
Renal insufficiency, Proteinuria, Short stature, Renal tubular dysfunction, Aminoaciduria, Hypoka... ORPHA:213
Hereditary Coproporphyria
Dark urine, Hyponatremia, Small intestinal dysmotility, Abdominal pain, Abnormal circulating porp... ORPHA:79273
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Feeding di... OMIM:248250
Juvenile Nephropathic Cystinosis
Poor appetite, Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weigh... ORPHA:411634
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Feeding difficulties in infancy, Diarrhea, Hyperkalemia, Vomiting OMIM:264350
Apparent Mineralocorticoid Excess
Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Hypoka... ORPHA:320
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Feeding difficulties, Increased circula... ORPHA:556030
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Vomi... ORPHA:556037
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circu... ORPHA:199343
Distal Renal Tubular Acidosis
Hyperphosphaturia, Short stature, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal... ORPHA:18
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Gitelman Syndrome
Salt craving, Polyuria, Abdominal pain, Renal magnesium wasting, Growth delay, Enuresis, Hypokale... OMIM:263800
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Short stature, Chronic kidney disease, Hyperkalemia, Oliguria, Renal h... ORPHA:97362
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hereditary Central Diabetes Insipidus
Growth delay, Polydipsia, Vomiting, Diarrhea ORPHA:30925
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Feeding difficulties in infancy, Hypercal... OMIM:239200
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bow... ORPHA:35710
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Diarrhea, Bicarbonaturia, Bi... ORPHA:47159
Familial Hypoaldosteronism
Hyponatremia, Nausea and vomiting, Decreased urinary potassium, Renal salt wasting, Diarrhea, Hyp... ORPHA:427
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Variegate Porphyria
Abdominal pain, Porphyrinuria, Increased urinary porphobilinogen, Constipation, Vomiting, Elevate... OMIM:176200
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level OMIM:610600
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:256100
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Snakebite Envenomation
Hyponatremia, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Acute kidney i... ORPHA:449285
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Short stature, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypocalciuria, ... OMIM:612780
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Acute Intermittent Porphyria
Dark urine, Hyponatremia, Renal insufficiency, Restlessness, Nausea and vomiting, Dysuria, Urinar... ORPHA:79276
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypokalemia, Polydipsia, Decreased circulating renin level OMIM:613677
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... OMIM:606966
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Short stature, Renal salt wasting, ... OMIM:241200
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Liddle Syndrome
Nephropathy, Renal insufficiency, Hypokalemia, Constipation ORPHA:526
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia, Feeding difficulties OMIM:143860
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... OMIM:601678
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Hypokalemia, Polydipsia, Nausea, Decreased circulating renin level ORPHA:231580
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia, Hypokalemia, Hypocal... OMIM:617671
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Kleine-Levin Syndrome
Poor appetite, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexu... ORPHA:33543
Porphyria Variegata
Hyponatremia, Neurogenic bladder, Abdominal pain, Abnormal circulating porphyrin concentration, C... ORPHA:79473
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Acute Adrenal Insufficiency
Hyponatremia, Nausea and vomiting, Renal insufficiency, Salt craving, Hypercalcemia, Anorexia, De... ORPHA:95409
Cholera
Hyponatremia, Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Abnormal bl... ORPHA:173
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Diarrhea, Hyperkalemia, Feeding difficulties, Increased circulating renin level, Vo... OMIM:177735
Familial Hyperaldosteronism Type Iii
Hypokalemia, Polydipsia, Hypercalciuria, Nausea ORPHA:251274
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Diarrhea, Hyperka... ORPHA:361
Shigellosis
Hyponatremia, Anorexia, Abdominal pain, Hemolytic-uremic syndrome, Peritonitis, Urethritis, Abnor... ORPHA:810
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Renal hypoplasia, Feeding difficulties, Nephrocalcinosis, Growth delay,... OMIM:617913
Legionnaires Disease
Hyponatremia, Nausea and vomiting, Renal insufficiency, Proteinuria, Anorexia, Abdominal pain, Di... ORPHA:549
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Diarrhea, Oliguria, Abnormal blood ion concentration, Hypophos... ORPHA:31824
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Infant Botulism
Hyponatremia, Anorexia, Bowel incontinence, Abdominal pain, Xerostomia, Constipation, Dysphagia ORPHA:178478
Hypoadrenocorticism, Familial
Hyponatremia, Feeding difficulties in infancy, Hyperkalemia, Vomiting OMIM:240200
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Constipation, Abnormal circulating lipid concen... ORPHA:225
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Abdominal distention, Secretory diarrhea, Growth delay, Hypochloremia, Hypokalemia,... OMIM:214700
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Constipation, Attention deficit hyperactivity disorder OMIM:301033
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... ORPHA:84081
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithi... ORPHA:99880
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Vomiting OMIM:620126
Coproporphyria, Hereditary
Abdominal pain, Diarrhea, Increased urinary porphobilinogen, Constipation, Vomiting, Elevated uri... OMIM:121300
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:613550
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Constipati... ORPHA:84085
Propionic Acidemia
Organic aciduria, Constipation, Hyperammonemia ORPHA:35
Parathyroid Carcinoma
Nausea and vomiting, Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithi... ORPHA:143
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoargininemia, Hyperglutaminemia, Low plasma... OMIM:615751
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Renal insufficiency, Short stature, Chronic kidney disease, ... ORPHA:1667
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia, Nausea ORPHA:403
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Polydipsia, Nephrolithiasis, Nausea ORPHA:369929
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg... OMIM:308990
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:614736
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Polyphagia OMIM:615986
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome
Constipation, Feeding difficulties, Agitation, Aggressive behavior ORPHA:468620
Herpes Simplex Virus Encephalitis
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration, Nause... ORPHA:1930
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Bowel incontinence, Feeding dif... ORPHA:682
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Secretory diarrhea, Feeding difficulties, Hematoche... OMIM:618183
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Proportionate short stature, Feeding difficulties in infancy, Hyperkalemia, Increas... ORPHA:171876
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hyperammonemia, Growth delay, Chronic constipation, Attention deficit hyperactivit... OMIM:620211
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Abdominal pain, Diarrhea, Peritonitis, Elevated circulating creatinine conc... ORPHA:90038
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Chronic constipat... ORPHA:261222
Diastasis Recti And Weakness Of The Linea Alba
Constipation OMIM:612198
Addison Disease
Hyponatremia, Nausea and vomiting, Salt craving, Hypercalcemia, Anorexia, Decreased urinary potas... ORPHA:85138
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Short stature, Chronic diarrhea, H... OMIM:617053
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Paroxysmal Extreme Pain Disorder
Constipation ORPHA:46348
Malonyl-Coa Decarboxylase Deficiency
Short stature, Abdominal pain, Diarrhea, Methylmalonic aciduria, Chronic constipation, Elevated u... OMIM:248360
Intellectual Developmental Disorder, X-Linked 99
Hypospadias, Aggressive behavior, Ectopic kidney, Chronic constipation, Gastroesophageal reflux, ... OMIM:300919
Gitelman Syndrome
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... ORPHA:358
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis OMIM:615994
Familial Cold Urticaria
Nausea and vomiting, Polydipsia, Abdominal pain ORPHA:47045
Alg8-Cdg
Hyponatremia, Diarrhea, Feeding difficulties, Vomiting, Intrauterine growth retardation ORPHA:79325
Aica-Ribosuria Due To Atic Deficiency
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia OMIM:608688
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Hypercalciu... OMIM:241500
Panhypophysitis
Hyponatremia, Poor appetite, Hyposthenuria, Polydipsia, Nausea ORPHA:95513
Adrenal Hypoplasia, Congenital
Hyponatremia, Delayed puberty, Renal salt wasting OMIM:300200
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia ORPHA:95626
Lysosomal Acid Lipase Deficiency
Hyponatremia, Nausea and vomiting, Fatal liver failure in infancy, Hypertriglyceridemia, Renal sa... ORPHA:275761
Whipple Disease
Hyponatremia, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea, Polydipsia ORPHA:3452
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Short stature, Polyphagia, Growth delay, Self-injurious behav... ORPHA:228402
Attrv30M Amyloidosis
Nephropathy, Diarrhea, Constipation, Abnormal renal physiology ORPHA:85447
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Nausea, Abdominal pain, Diarrhea, Hyperkalemia, Oliguria, Secretory diarrhe... ORPHA:544482
Hijazi-Reis Syndrome
Postnatal growth retardation, Chronic constipation, Gastroesophageal reflux, Hyperbilirubinemia, ... OMIM:301094
Late-Onset Isolated Acth Deficiency
Hyponatremia, Nausea and vomiting, Hypercalcemia, Anorexia, Abdominal pain, Diarrhea, Hyperkalemi... ORPHA:199299
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Polydipsia, Short stature, Constipation ORPHA:3157
Hereditary Fructose Intolerance
Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney disease, Hype... ORPHA:469
Xq28 (MECP2) duplication
Feeding difficulties in infancy, Functional abnormality of the bladder, Gastroesophageal reflux, ... DECIPHER:45
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoalb... ORPHA:247353
Necrotizing Enterocolitis
Hyponatremia, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting ORPHA:391673
Sandhoff Disease, Juvenile Form
Diarrhea, Constipation, Urinary incontinence, Dysphagia ORPHA:309162
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney, Feeding difficultie... ORPHA:1764
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Webb-Dattani Syndrome
Neurogenic bladder, Short stature, Hyposthenuria, Gastroesophageal reflux, Vesicoureteral reflux,... OMIM:615926
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Short stature, Abnormal renal morphology, Self hugging, Head... OMIM:182290
Foxg1 Syndrome
Short stature, Feeding difficulties, Severe postnatal growth retardation, Gastroesophageal reflux... ORPHA:561854
Wolfram Syndrome
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Feeding difficulties in... ORPHA:3463
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, V... ORPHA:90791
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abdominal distention, Diarrhea, Low plasma citrulline, Malnutrition... ORPHA:95427
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Feeding difficulties OMIM:620157
Pediatric-Onset Graves Disease
Nausea and vomiting, Hyperactivity, Diarrhea, Intrauterine growth retardation, Polydipsia, Polyph... ORPHA:525731
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Rabson-Mendenhall Syndrome
Short stature, Long penis, Nephrocalcinosis, Severe postnatal growth retardation, Hypokalemia, In... ORPHA:769
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Feeding difficulties, Self-injurious behavior, Constipation, Inappropriate laughter, Bruxism, Ste... OMIM:614254
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration... OMIM:619743
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Feeding difficulties in infancy, Oligosacchariduria, Nephrocalcinosis, Aminoacidur... ORPHA:534
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Anorexia, Lacticaciduria, Hyperamm... ORPHA:3008
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficienc... ORPHA:731
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Feeding d... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Feeding d... ORPHA:289548
Adenohypophysitis
Hyponatremia, Hyposthenuria, Nausea, Poor appetite ORPHA:95512
Glutathionuria
Constipation, Urinary incontinence, Glutathionuria OMIM:231950
Intellectual Developmental Disorder With Autism And Macrocephaly
Constipation, Recurrent hand flapping, Pica OMIM:615032
Igg4-Related Retroperitoneal Fibrosis
Nausea and vomiting, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concen... ORPHA:49041
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Abnormality of the kidney, Decreased serum iron, Repetitive compulsive behavior, Feeding difficul... ORPHA:391372
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Renal corticomedu... OMIM:243910
Neurodevelopmental Disorder With Dystonia And Seizures
Self-injurious behavior, Feeding difficulties, Constipation, Intrauterine growth retardation OMIM:619922
Thyrotropin-Releasing Hormone Deficiency
Constipation, Short stature OMIM:275120
Propionic Acidemia
Short stature, Increased level of hippuric acid in urine, Poor appetite, Feeding difficulties in ... OMIM:606054
Schaaf-Yang Syndrome
Short stature, Impulsivity, Poor suck, Feeding difficulties, Gastroesophageal reflux, Constipatio... OMIM:615547
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Self-injurious behavior, Constipation, Vomiting OMIM:613638
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Constipation, Urinary incontinence, Feeding difficulties OMIM:620094
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Abd... OMIM:256300
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Diarrhea, Elevated circulating creatinine concentration, Growth ... OMIM:223900
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Growth delay, Nephrotic syndrome, Chronic constipat... OMIM:619428
Parkinson Disease 22, Autosomal Dominant
Restless legs, Constipation OMIM:616710
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Urinary retention, Dysph... ORPHA:1267
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Nausea and vomiting, Dys... ORPHA:537
Athyreosis
Short stature, Abdominal distention, Feeding difficulties, Growth delay, Constipation ORPHA:95713
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Combined Oxidative Phosphorylation Deficiency 32
Horseshoe kidney, Feeding difficulties, Constipation, Gastroesophageal reflux, Dysphagia OMIM:617664
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Short stature, Aggressive behavior, Hyperlipidemia, Gastrointestinal dysmotility, H... ORPHA:293987
Sheehan Syndrome
Hyponatremia, Poor appetite, Hyposthenuria, Constipation, Nausea ORPHA:91355
Solitary Rectal Ulcer Syndrome
Abdominal pain, Bloody diarrhea, Hematochezia, Chronic constipation, Bloody mucoid diarrhea, Epis... ORPHA:209964
Infantile Dystonia-Parkinsonism
Gastroesophageal reflux, Abnormal circulating carboxylic acid concentration, Constipation, Feedin... ORPHA:238455
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Nausea and vomiting ORPHA:83601
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Urinary retention, Dysph... ORPHA:228371
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Postnatal growth retardation, Feeding difficulties in infancy, Nephrolithia... OMIM:606407
Spastic Paraplegia 54, Autosomal Recessive
Short stature, Urinary incontinence, Bowel incontinence, Constipation, Dysphagia OMIM:615033
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Abdominal pain, Abdominal distention, Chronic ... ORPHA:330015
Alg12-Cdg
Hyponatremia, Hypospadias, Feeding difficulties, Hypoalbuminemia, Gastroesophageal reflux, Hypoch... ORPHA:79324
Visceral Myopathy 1
Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Vomiting, Patent urachus OMIM:618252
Squalene Synthase Deficiency
Hypospadias, Increased circulating farnesol concentration, Decreased LDL cholesterol concentratio... OMIM:618156
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Impulsivity, Feeding difficulties in infancy, Gastroesophageal reflux, Constipation, Attention de... ORPHA:589905
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Abdominal pain, Urolithiasis, Nephrolithi... OMIM:614723
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Abdominal pain, Encopresis, Diarrhea, Enuresis, Gastroesophageal reflux, Constipat... ORPHA:589821
Porphyria, Acute Intermittent
Dysuria, Urinary incontinence, Abdominal pain, Diarrhea, Paralytic ileus, Urinary retention, Vomi... OMIM:176000
Hypocalcemia, Autosomal Dominant 1
Short stature, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,... OMIM:601198
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Ddost-Cdg
Gastroesophageal reflux, Constipation, Nephrotic range proteinuria, Short stature ORPHA:300536
Jansen-De Vries Syndrome
Short stature, Feeding difficulties, Gastroesophageal reflux, Vomiting, Attention deficit hyperac... OMIM:617450
Hirschsprung Disease
Nausea and vomiting, Intestinal obstruction, Short stature, Abdominal pain, Diarrhea, Functional ... ORPHA:388
Smith-Magenis Syndrome
Hypertriglyceridemia, Short stature, Renal hypoplasia/aplasia, Feeding difficulties in infancy, A... ORPHA:819
Nephrotic Syndrome, Type 22
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Fg Syndrome 2
Constipation OMIM:300321
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hypospadias, Aggressive behavior, Feeding difficulties in infancy, Renal atrophy, Growth delay, C... OMIM:618659
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... OMIM:241150
Desanto-Shinawi Syndrome
Aggressive behavior, Feeding difficulties, Constipation, Agitation, Attention deficit hyperactivi... OMIM:616708
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Postnatal growth retardation, Feeding difficulties, Constipation, Gastroesophageal reflux, Intrau... OMIM:615419
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Gastrointestinal dysmotility... OMIM:613662
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,... OMIM:201810
Intellectual Developmental Disorder, Autosomal Dominant 51
Aggressive behavior, Chronic diarrhea, Feeding difficulties, Chronic constipation, Fixated intere... OMIM:617788
X-Linked Creatine Transporter Deficiency
Hyperactivity, Short stature, Abnormal circulating creatine concentration, Ileus, Constipation, S... ORPHA:52503
Intellectual Developmental Disorder, Autosomal Recessive 76
Self-injurious behavior, Chronic constipation, Feeding difficulties OMIM:619931
Erdheim-Chester Disease
Nausea and vomiting, Renal insufficiency, Dysuria, Abdominal pain, Polydipsia, Hydronephrosis ORPHA:35687
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Japanese Encephalitis
Hyponatremia, Anorexia, Abdominal pain, Diarrhea, Vomiting ORPHA:79139
Liver Disease, Severe Congenital
Chronic gastritis, Aminoaciduria, Vomiting, Hypocalcemia, Elevated hepatic iron concentration, Hy... OMIM:619991
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Constipation, Recurrent hand flapping, Pica, Short stature OMIM:618480
Iatrogenic Botulism
Xerostomia, Constipation, Urinary retention, Dysphagia ORPHA:254509
Coffin-Siris Syndrome 6
Short stature, Tics, Gastroesophageal reflux, Attention deficit hyperactivity disorder, Constipat... OMIM:617808
Thyroid Hemiagenesis
Growth delay, Abdominal distention, Constipation ORPHA:95719
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Short stature, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epine... ORPHA:90794
Rauch-Steindl Syndrome
Hyperactivity, Short stature, Aggressive behavior, Postnatal growth retardation, Bilateral renal ... OMIM:619695
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Feeding difficulties in infancy... OMIM:610505
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Rabin-Pappas Syndrome
Hyponatremia, Feeding difficulties OMIM:620155
Alpha-N-Acetylgalactosaminidase Deficiency
Constipation, Gastroesophageal reflux, Oligosacchariduria ORPHA:3137
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Constipation, Feeding di... ORPHA:95715
Seizures-Scoliosis-Macrocephaly Syndrome
Constipation, Gastroesophageal reflux, Abnormality of the kidney, Nausea ORPHA:466926
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce... OMIM:309000
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Constipation, Vomiting, Enterocolitis OMIM:142623
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Feeding difficultie... OMIM:618885
Wound Botulism
Constipation, Urinary retention, Dysphagia ORPHA:178475
Optic Atrophy 11
Hyperactivity, Short stature, Stereotypical body rocking, Constipation, Attention deficit hyperac... OMIM:617302
Peroxisome Biogenesis Disorder 8B
Constipation, Elevated circulating phytanic acid concentration, Decreased liver function, Dysphagia OMIM:614877
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Poor appetite, Postnatal growth retardat... OMIM:227810
Williams-Beuren Region Duplication Syndrome
Short stature, Unilateral renal agenesis, Feeding difficulties, Chronic constipation, Attention d... OMIM:609757
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Postnatal growth retardation, Hypercalciuria, Intrauterine growth ret... OMIM:614732
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Gastroparesis, Intestinal pseudo-obstruction, Ab... OMIM:603041
Idiopathic Congenital Hypothyroidism
Feeding difficulties in infancy, Constipation, Neonatal hyperbilirubinemia ORPHA:95717
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Proteinuria, Feeding difficulties in infancy, Abnormality of t... ORPHA:2162
Argininemia
Hyperactivity, Anorexia, Postnatal growth retardation, Hyperammonemia, Diaminoaciduria, Hyperargi... OMIM:207800
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Vomiting ORPHA:90790
Polymyositis
Gastrointestinal hemorrhage, Elevated circulating creatine kinase concentration, Anorexia, Abdomi... ORPHA:732
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Chronic constipation, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Feeding difficulties, Hypokalemia, Gastroesophageal reflux, Vomiting, Poor suck OMIM:618426
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Protracted diarrhea, Hematochezia,... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Protracted diarrhea, Hematochezia,... ORPHA:100082
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Malnutrition, Dysphagia, Feeding difficulties, Growth delay, Decreased seru... ORPHA:89842
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Feeding difficulties ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Feeding difficulties ORPHA:529799
48,Xxyy Syndrome
Hypoplasia of penis, Feeding difficulties in infancy, Gastroesophageal reflux, Constipation, Atte... ORPHA:10
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Constipation, Dysphagia, Hy... OMIM:618494
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction OMIM:193250
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Hypospadias, Feeding difficulties, Chronic constipation, Tics, Inappropriate laugh... ORPHA:363686
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Constipation, Short stature ORPHA:2349
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation ORPHA:160148
Familial Mediterranean Fever
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Peritonitis, Sta... OMIM:249100
Developmental And Epileptic Encephalopathy 90
Fetal pyelectasis, Constipation, Abdominal pain OMIM:301058
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Tongue thrusting, Pica, Feeding difficulties, Stereotypical body rocking, Tics, Ga... OMIM:617865
Cerebral Creatine Deficiency Syndrome 1
Short stature, Aggressive behavior, Feeding difficulties in infancy, Ileus, Elevated circulating ... OMIM:300352
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal pseudo-obstruction, ... OMIM:619350
Fatal Familial Insomnia
Constipation, Urinary retention, Dysphagia OMIM:600072
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Feeding difficulties in infancy, Chronic constipation, Attention deficit hyp... OMIM:618825
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Bowel incontinence, Aggress... ORPHA:261494
Parkinsonism-Dystonia 1, Infantile-Onset
Constipation, Gastroesophageal reflux, Feeding difficulties OMIM:613135
Spastic Paraplegia 20, Autosomal Recessive
Urinary urgency, Chronic constipation, Short stature, Dysphagia OMIM:275900
Rheumatic Fever
Nausea and vomiting, Anorexia, Abdominal pain, Nephrotic syndrome, Constipation ORPHA:3099
Coffin-Siris Syndrome 7
Hyperactivity, Short stature, Severe temper tantrums, Feeding difficulties, Constipation, Compuls... OMIM:618027
Spastic Paraplegia 44, Autosomal Recessive
Constipation, Urinary incontinence OMIM:613206
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Urinary retention, Constipation ORPHA:254504
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Urinary incontinence, Aggressive behavior, Feeding difficulties in infancy, Poor s... ORPHA:476126
Axial Mesodermal Dysplasia Spectrum
Short stature, Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localiza... ORPHA:1834
13Q12.3 Microdeletion Syndrome
Hyperactivity, Short stature, Vomiting, Constipation, Intrauterine growth retardation, Self-mutil... ORPHA:412035
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Fetal megacystis, Constipation, Intr... ORPHA:73246
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Abnormal renal morphology, Constipation, Gastroesophageal reflux, Abnormal temper tantrums, Oral ... ORPHA:329224
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Poor appetite, Postnatal growth retardation, Feeding difficulties in infancy, Horses... ORPHA:96182
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Growth delay, Hypernatremia, Hypoalbuminemia, Eosinophilic infiltration of the esophagus OMIM:615508
Solitary Fibrous Tumor
Hypophosphatemic rickets, Reduced C-peptide level, Constipation, Urinary retention ORPHA:2126
19P13.3 Microduplication Syndrome
Hyperactivity, Growth delay, Self-injurious behavior, Gastroesophageal reflux, Constipation, Intr... ORPHA:447980
Pituitary Apoplexy
Hyponatremia, Nausea and vomiting ORPHA:95613
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Self-injurious behavior, Recurrent urinary tract infections, Chronic constipation, Feeding diffic... OMIM:618707
Angelman Syndrome
Hyperactivity, Aggressive behavior, Gastrostomy tube feeding in infancy, Tongue thrusting, Poor s... ORPHA:72
Intellectual Developmental Disorder, Autosomal Dominant 1
Short stature, Aggressive behavior, Postnatal growth retardation, Feeding difficulties, Self-inju... OMIM:156200
Familial Thyroid Dyshormonogenesis
Feeding difficulties in infancy, Abnormal circulating thyroglobulin level, Constipation, Neonatal... ORPHA:95716
Hypothyroidism, Congenital, Nongoitrous, 6
Growth delay, Constipation OMIM:614450
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Feeding difficulties, Constipation, Compulsive behaviors, Abn... OMIM:618430
Fg Syndrome 5
Chronic constipation, Hypospadias OMIM:300581
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Abnormal eating behavior, Tongue thrusting, Feeding difficulties, Constipation, In... ORPHA:98794
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Impulsivity, Aggressive behavior, Feeding difficulties in infancy, Chronic diarrhe... ORPHA:500055
Microcephaly 27, Primary, Autosomal Dominant
Chronic constipation, Micropenis OMIM:619180
Nizon-Isidor Syndrome
Hypospadias, Aggressive behavior, Feeding difficulties in infancy, Gastroesophageal reflux, Const... OMIM:618872
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hypospadias, Postnatal growth retardation, Hyposerinemia, Feeding difficulties, Gastroesophageal ... ORPHA:79350
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Abnormal circulating cholesterol concentration, A... ORPHA:399
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Intrauterine growth retardation, Constipation, Urinary incontinence OMIM:604320
Pituitary Dermoid And Epidermoid Cysts
Nausea and vomiting, Polydipsia ORPHA:91351
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Constipation OMIM:273390
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Urinary incontinence, Bowel incontinence, Elevated circulating creatine kinase concentration, Fee... OMIM:617193
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Decreased liver... ORPHA:167
Parkinson Disease, Late-Onset
Urinary urgency, Constipation, Dysphagia OMIM:168600
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short stature, Nasogastric tube feeding in infancy, Feeding difficulties, Self-injurious behavior... ORPHA:371364
Intellectual Disability-Strabismus Syndrome
Hyperactivity, Hypospadias, Short stature, Impulsivity, Aggressive behavior, Feeding difficulties... ORPHA:363528
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Stage 3 chronic kidney disease, Elevated circulating creatinine con... OMIM:620366
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Neurogenic bladder, Urinary incontinence, Elevated circulating creatine kinase concentration, Bow... ORPHA:496641
Schuurs-Hoeijmakers Syndrome
Feeding difficulties, Constipation, Aggressive behavior OMIM:615009
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Short stature, Aggressive behavior, Feeding difficulties, Self-injurious behavior, Chronic consti... OMIM:300986
Temple-Baraitser Syndrome
Constipation, Gastroesophageal reflux OMIM:611816
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Feeding difficulties, Growth delay, Gastroesophageal... ORPHA:96170
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Feeding difficulties, Constipation, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:284169
Thyroid Dyshormonogenesis 1
Growth delay, Constipation OMIM:274400
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Growth delay, Neurogenic bladder, Constipation ORPHA:466934
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Chronic constipation, Feeding difficulties, Short stature, Aggressive behavior OMIM:619056
49,Xxxxy Syndrome
Hypoplasia of penis, Short stature, Renal hypoplasia/aplasia, Gastroesophageal reflux, Constipati... ORPHA:96264
Emanuel Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Renal hypoplasia, Feeding difficul... OMIM:609029
Autosomal Recessive Spastic Paraplegia Type 20
Short stature, Dysuria, Growth delay, Constipation, Dysphagia, Hydronephrosis ORPHA:101000
Autosomal Recessive Dopa-Responsive Dystonia
Constipation, Feeding difficulties ORPHA:101150
Methanol Poisoning
Abdominal pain, Hyperlipidemia, Diarrhea, Addictive alcohol use, Vomiting ORPHA:31825
Silver-Russell Syndrome
Hypospadias, Short stature, Postnatal growth retardation, Feeding difficulties, Abnormality of th... ORPHA:813
White-Sutton Syndrome
Duplicated collecting system, Hyperactivity, Short stature, Aggressive behavior, Poor suck, Feedi... OMIM:616364
Pure Autonomic Failure
Dysuria, Constipation, Urinary incontinence ORPHA:441
Ppoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia... ORPHA:97278
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Intrauterine growth retardation, Constipation, Feeding difficulties OMIM:616801
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hypospadias, Repetitive compulsive behavior, Bruxism, Feeding difficulties, Chronic constipation,... OMIM:300260
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Pontocerebellar Hypoplasia, Type 8
Constipation, Feeding difficulties, Gastroesophageal reflux, Dysphagia OMIM:614961
Intellectual Developmental Disorder, Autosomal Dominant 61
Chronic constipation, Attention deficit hyperactivity disorder OMIM:618009
Developmental And Epileptic Encephalopathy 47
Chronic constipation, Agitation, Feeding difficulties OMIM:617166
Congenital Disorder Of Glycosylation, Type Ir
Chronic constipation, Gastroesophageal reflux, Decreased liver function OMIM:614507
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Feeding difficulties, Chronic constipation, Hydronephrosis, Stereotypical hand wri... OMIM:619179
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Constipation, High nonceruloplasmin-bound serum copper, Abnormal repetit... ORPHA:457351
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Elevated circulating C-reactive protein concentration, Anorexia, Abdominal pain, Diarr... OMIM:619381
Young-Onset Parkinson Disease
Restless legs, Gastroparesis, Impulsivity, Diarrhea, Constipation, Agitation, Nausea ORPHA:2828
Fg Syndrome 3
Chronic constipation, Hyperactivity, Feeding difficulties OMIM:300406
Niemann-Pick Disease, Type A
Short stature, Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen OMIM:257200
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin... ORPHA:79102
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hyperkalemia ORPHA:293978
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Proteinuria, Abdominal pain, ... ORPHA:342
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Nausea and vomiting, Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abno... ORPHA:847
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Gastroesophageal reflux, Constipation, Attention deficit hypera... OMIM:619312
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Postnatal growth retardation, Poor suck, Growth delay, Gastroesophag... OMIM:301040
Peritoneal Cystic Mesothelioma
Abdominal distention, Peritonitis, Constipation, Abdominal pain ORPHA:168816
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Aggressive behavior, Chronic constipation, Attention deficit hyperactivity disorde... OMIM:301069
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Constipation, Bowel incontinence OMIM:169500
Toxin-Mediated Infectious Botulism
Constipation, Dysphagia ORPHA:230800
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Chronic constipation, Hydronephrosis OMIM:618060
Neuropathy, Hereditary Sensory And Autonomic, Type V
Diarrhea, Constipation, Urinary incontinence OMIM:608654
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short stature, Pica, Feeding difficulties, Gastroesophageal reflux, Constipation, Intrauterine gr... OMIM:617360
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Constipation, Abdominal pain ORPHA:99745
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Rett Syndrome
Short stature, Gastroesophageal reflux, Constipation, Bruxism, Stereotypical hand wringing OMIM:312750
Wiedemann-Steiner Syndrome
Hyperactivity, Short stature, Aggressive behavior, Postnatal growth retardation, Feeding difficul... OMIM:605130
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre... ORPHA:101330
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Renal neoplasm, Nausea and vomiting, Abdominal pain, Abnormal circul... ORPHA:440437
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Abdom... ORPHA:653
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Impulsivity, Aggressive behavior, Feeding difficulties, Chronic constipation, Gast... OMIM:616977
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Constipation, Gastroesophageal reflux, Elevated circulating creatine kinase concentration, Gastro... OMIM:610131
Infantile Neuroaxonal Dystrophy
Hyperactivity, Constipation, Impulsivity, Choking episodes ORPHA:35069
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Gastroesophageal reflux, Feeding difficulties, Short stature, Chronic constipation OMIM:616577
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Abdominal pain, Malnutri... OMIM:229600
Isolated Thyroid-Stimulating Hormone Deficiency
Feeding difficulties in infancy, Growth delay, Constipation, Attention deficit hyperactivity diso... ORPHA:90674
Somatostatinoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia... ORPHA:97283
Behr Syndrome
Chronic constipation, Dysphagia OMIM:210000
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ileus, Feeding difficul... OMIM:613327
16P12.1P12.3 Triplication Syndrome
Nail-biting, Hyperactivity, Chronic constipation, Attention deficit hyperactivity disorder, Skin-... ORPHA:485405
Nabais Sa-De Vries Syndrome, Type 2
Feeding difficulties in infancy, Chronic constipation, Multicystic kidney dysplasia, Gastroesopha... OMIM:618829
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Nausea, Hyperkalemia, Renal tubular epithelial necrosis, Renal tu... ORPHA:31826
Juvenile Dermatomyositis
Calcinosis, Gastrointestinal hemorrhage, Elevated circulating creatine kinase concentration, Elev... ORPHA:93672
48,Xxxy Syndrome
Hypoplasia of penis, Gastroesophageal reflux, Constipation, Attention deficit hyperactivity disor... ORPHA:96263
Leukodystrophy, Hypomyelinating, 12
Neurogenic bladder, Constipation OMIM:616683
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Pica, Feeding difficulties, Chronic constipation, Obsessive-compulsive trait, Abno... OMIM:617796
Skraban-Deardorff Syndrome
Constipation, Feeding difficulties OMIM:617616
Grfoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia... ORPHA:97261
Developmental And Epileptic Encephalopathy 31B
Feeding difficulties, Constipation, Tube feeding, Choking episodes OMIM:620352
Hogue-Janssen Syndrome 2
Chronic constipation, Unilateral renal agenesis OMIM:616362
Glucagonoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia... ORPHA:97280
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Feeding difficulties, Self-injurious behavior, Chronic constipation, Compuls... OMIM:617061
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Gastrointestinal dysmotility, Feeding difficulties, Self-injurious behavior,... ORPHA:466943
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Gastroesophageal reflux, Constipation OMIM:611961
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen ORPHA:226313
Pontocerebellar Hypoplasia, Type 13
Constipation, Decreased liver function, Feeding difficulties OMIM:618606
Central Hypoventilation Syndrome, Congenital, 3
Chronic constipation, Episodic vomiting, Feeding difficulties OMIM:619483
Intellectual Developmental Disorder, Autosomal Dominant 57
Short stature, Diarrhea, Intermittent diarrhea, Feeding difficulties, Constipation, Attention def... OMIM:618050
Melas
Proteinuria, Short stature, Intestinal pseudo-obstruction, Diarrhea, Gastrointestinal dysmotility... ORPHA:550
Developmental And Epileptic Encephalopathy 83
Feeding difficulties in infancy, Chronic constipation, Poor suck OMIM:618744
Fg Syndrome Type 1
Short stature, Hypospadias, Gastroesophageal reflux, Constipation, Attention deficit hyperactivit... ORPHA:93932
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Poor a... ORPHA:100079
Amyloidosis, Hereditary, Transthyretin-Related
Episodic vomiting, Diarrhea, Constipation, Urinary incontinence OMIM:105210
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
Den Hoed-De Boer-Voisin Syndrome
Recurrent urinary tract infections, Agitation, Gastroesophageal reflux, Constipation, Dysphagia, ... OMIM:619229
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Aggressive behavior, Self-injurious behavior, Pelvic kidney, Gastroesophageal reflux, Attention d... ORPHA:466950
Waardenburg-Shah Syndrome
Intestinal obstruction, Constipation, Abdominal pain ORPHA:897
Leukodystrophy, Hypomyelinating, 20
Chronic constipation, Feeding difficulties OMIM:619071
Genetic Transient Congenital Hypothyroidism
Constipation, Increased circulating thyroglobulin level, Feeding difficulties ORPHA:226316
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Gastroesophageal reflux, Const... ORPHA:453499
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Growth delay, Malnutrition, Constipation, Dysphagia OMIM:226600
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Chronic constipation OMIM:619465
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Head-banging, Feeding difficulties, Hematochezia, Renal tubular acidosis, Self-inj... OMIM:619575
Chops Syndrome
Short stature, Gastroparesis, Horseshoe kidney, Gastroesophageal reflux, Constipation, Vesicouret... OMIM:616368
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Renal cyst, Hypoalbuminemia, Vomiting, Gastroesophageal reflux, Hyp... OMIM:270400
Pitt-Hopkins Syndrome
Aggressive behavior, Postnatal growth retardation, Feeding difficulties, Growth delay, Self-injur... ORPHA:2896
Gastrointestinal Stromal Tumor
Intestinal obstruction, Constipation, Dysphagia OMIM:606764
Thyroid Hypoplasia
Growth delay, Abdominal distention, Constipation, Short stature ORPHA:95720
Magel2-Related Prader-Willi-Like Syndrome
Short stature, Impulsivity, Xerostomia, Poor suck, Feeding difficulties, Chronic constipation, Ga... ORPHA:398069
Kapur-Toriello Syndrome
Intrauterine growth retardation, Micropenis, Abnormality of the urinary system, Constipation OMIM:244300
Temple-Baraitser Syndrome
Constipation, Short stature ORPHA:420561
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Basel-Vanagaite-Smirin-Yosef Syndrome
Gastroesophageal reflux, Constipation, Hypospadias, Hydronephrosis OMIM:616449
Imerslund-Gräsbeck Syndrome
Constipation, Proteinuria, Vomiting, Poor appetite ORPHA:35858
Intellectual Developmental Disorder, Autosomal Dominant 64
Growth delay, Chronic constipation, Attention deficit hyperactivity disorder, Feeding difficulties OMIM:619188
Multiple System Atrophy, Cerebellar Type
Constipation, Neuromuscular dysphagia ORPHA:227510
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Gastroesophageal reflux, Constipation, Short stature, Feeding difficulties ORPHA:562528
Cardiofaciocutaneous Syndrome 1
Short stature, Feeding difficulties in infancy, Tongue thrusting, Gastroesophageal reflux, Vomiti... OMIM:115150
Angelman Syndrome
Feeding difficulties in infancy, Hyperactivity, Constipation, Paroxysmal bursts of laughter OMIM:105830
Cataracts, Spastic Paraparesis, And Speech Delay
Chronic constipation OMIM:619338
Intellectual Developmental Disorder, Autosomal Dominant 54
Short stature, Poor appetite, Aggressive behavior, Gastrointestinal dysmotility, Feeding difficul... OMIM:617799
Intellectual Developmental Disorder, Autosomal Dominant 68
Urinary incontinence, Feeding difficulties, Constipation, Gastroesophageal reflux, Attention defi... OMIM:619934
Hypothyroidism Due To Tsh Receptor Mutations
Feeding difficulties in infancy, Constipation, Increased circulating thyroglobulin level, Neonata... ORPHA:90673
Brain-Lung-Thyroid Syndrome
Hyperactivity, Hypospadias, Short stature, Abnormal eating behavior, Megacystis, Abnormal drinkin... ORPHA:209905
Hartsfield Syndrome
Growth delay, Micropenis, Hypernatremia, Hypospadias OMIM:615465
Hereditary Late-Onset Parkinson Disease
Impulsivity, Spastic/hyperactive bladder, Chronic constipation, Agitation, Dysphagia ORPHA:411602
Autosomal Dominant Progressive External Ophthalmoplegia
Gastroparesis, Elevated circulating creatine kinase concentration, Constipation, Gastroesophageal... ORPHA:254892
Developmental Delay, Hypotonia, And Impaired Language
Constipation, Gastroesophageal reflux, Feeding difficulties OMIM:620012
Floating-Harbor Syndrome
Restlessness, Hypospadias, Renal agenesis, Impulsivity, Aggressive behavior, Short stature, Dilat... ORPHA:2044
Rahman Syndrome
Chronic constipation, Feeding difficulties OMIM:617537
Kapur-Toriello Syndrome
Hypoplasia of penis, Constipation ORPHA:2328
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Hyperactivity, Short stature, Abnormal repetitive mannerisms,... OMIM:615873
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Postnatal growth retardation, Constipation, Gastroesophageal reflux, Attention deficit hyperactiv... OMIM:620029
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hypospadias, Hyperkalemia, Horseshoe kidney, Micropenis, Chordee, Vesicovaginal fis... OMIM:201750
White-Sutton Syndrome
Duplicated collecting system, Hyperactivity, Short stature, Aggressive behavior, Feeding difficul... ORPHA:468678
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Tongue thrusting, Constipation, Gastroesophageal reflux OMIM:608643
Mucopolysaccharidosis Type 3
Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Hypersexuality, Mucopolys... ORPHA:581
Developmental And Epileptic Encephalopathy 102
Chronic constipation, Gastroesophageal reflux OMIM:619881
Pitt-Hopkins Syndrome
Self-injurious behavior, Constipation, Gastroesophageal reflux, Micropenis, Abnormal repetitive m... OMIM:610954
Alternating Hemiplegia Of Childhood
Impulsivity, Aggressive behavior, Anorexia, Oral-pharyngeal dysphagia, Diarrhea, Gastrointestinal... ORPHA:2131
9Q33.3Q34.11 Microdeletion Syndrome
Abnormality of the kidney, Constipation, Esophagitis, Dysphagia, Micropenis ORPHA:495818
Rett Syndrome, Congenital Variant
Tongue thrusting, Feeding difficulties, Gastroesophageal reflux, Constipation, Bruxism, Abnormal ... OMIM:613454
Angiostrongyliasis
Projectile vomiting, Poor appetite, Abdominal pain, Constipation, Vomiting, Nausea ORPHA:74
Rubinstein-Taybi Syndrome
Feeding difficulties in infancy, Constipation, Short stature, Attention deficit hyperactivity dis... ORPHA:783
Qazi-Markouizos Syndrome
Chronic constipation, Abdominal distention ORPHA:3010
Musculocontractural Ehlers-Danlos Syndrome
Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Constipation, Hydroneph... ORPHA:2953
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Urinary incontinence, Feeding difficulties, Chronic constipation, G... OMIM:619482
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Feeding difficulties, Gastroesophageal re... OMIM:616580
Developmental And Epileptic Encephalopathy 51
Constipation, Feeding difficulties OMIM:617339
Adnp Syndrome
Recurrent urinary tract infections, Short stature, Urinary incontinence, Aggressive behavior, Ora... ORPHA:404448
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Intrauterine growth retardation, Feeding difficulties, Short stature, Chronic constipation OMIM:617452
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Vomiting, Compulsive behaviors, Micropenis, Abnormal repetitive mannerisms, Restrictive beh... OMIM:619475
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Aggressive behavior, Constipation, Male urethral meatus stenosis, Hydronephrosis ORPHA:464738
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Chronic constipation, Poor suck, Attention deficit hyperactivity disorder, Feeding difficulties OMIM:619383
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting OMIM:142680
Adiposis Dolorosa
Constipation, Xerostomia, Diarrhea ORPHA:36397
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Chronic constipation, Attention deficit hyperactivity disorder, Compulsive behaviors, Feeding dif... ORPHA:404440
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Chronic diarrhea, Chronic constipation, Attention deficit hyperactivity disorder, Intrauterine gr... OMIM:619005
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Chronic constipation OMIM:300676
Proximal Spinal Muscular Atrophy
Gastroparesis, Constipation, Gastroesophageal reflux, Dysphagia, Poor suck ORPHA:70
Neurodevelopmental Disorder With Spasticity And Poor Growth
Short stature, Feeding difficulties, Growth delay, Chronic constipation, Gastroesophageal reflux,... OMIM:618076
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Constipation, Gastroesophageal reflux OMIM:616266
Acute Lung Injury
Increased circulating surfactant protein level, Addictive alcohol use, Elevated circulating C-rea... ORPHA:178320
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Gastroesophageal reflux, Short stature, Chronic constipation OMIM:619721
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Kagami-Ogata Syndrome
Postnatal growth retardation, Feeding difficulties, Constipation, Dysphagia, Poor suck ORPHA:254519
Al-Raqad Syndrome
Chronic constipation OMIM:616459
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Malnutrition, Urinary urgency, Constipation, Urinary retentio... ORPHA:99027
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Hypospadias, Short stature, Unilateral renal agenesis, Aggressive b... ORPHA:96121
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Short stature, Impulsivity, Aggre... ORPHA:353281
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Hypercalciuria, Nephrolithiasis, ... ORPHA:652
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Intrauterine growth retardation, Feeding difficulties, Short stature, Chronic constipation ORPHA:505237
Basilicata-Akhtar Syndrome
Chronic constipation, Gastroesophageal reflux, Feeding difficulties OMIM:301032
Williams-Beuren Syndrome
Feeding difficulties in infancy, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral reflux... OMIM:194050
Acute Transverse Myelitis
Decreased circulating copper concentration, Urinary incontinence, Gastroparesis, Paralytic ileus,... ORPHA:139417
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Oral-pharyngeal dysphagia, Postnatal growth retardation, Gastroesophageal reflux, Constipation, A... OMIM:300966
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Constipation, Dysphagia ORPHA:44890
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,... OMIM:218700
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Hypospadias, Short stature, Unilateral renal agenesis, Aggres... ORPHA:268261
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Abnormal renal morphology, Constipation, Feeding difficulties OMIM:239300
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Elevated circulating C-reactive protein concentration, Abdominal pain, Di... ORPHA:32960
Developmental And Epileptic Encephalopathy 2
Gastroesophageal reflux, Constipation, Abnormal repetitive mannerisms OMIM:300672
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Aggressive behavior, Tongue thrusting, Enuresis, Constipation, Compulsive behaviors ORPHA:369950
Pitt-Hopkins-Like Syndrome 2
Gastroesophageal reflux, Constipation, Feeding difficulties OMIM:614325
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gastroparesis, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube f... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gastroparesis, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube f... ORPHA:352665
Pontocerebellar Hypoplasia, Type 10
Growth delay, Constipation, Gastroesophageal reflux, Feeding difficulties OMIM:615803
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Aggressive behavior, Chronic constipation, Compulsive behaviors, Vesicoureteral refl... ORPHA:163956
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Chronic constipation, Hyperactivity, Gastroesophageal reflux OMIM:619720
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Encopresis, Feeding difficulties, Constipation, Gastroesophageal reflux, Abnormal re... OMIM:616682
Multiple System Atrophy
Constipation ORPHA:102
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypospadias, Short stature, Bowel incontinence, Feeding difficulties... ORPHA:567
Lynch Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Constipation, Attention deficit... ORPHA:144
Currarino Syndrome
Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Gastrointestinal ob... OMIM:176450
Nk-Cell Enteropathy
Abdominal pain, Diarrhea, Hematochezia, Gastroesophageal reflux, Constipation ORPHA:263665
Pudendal Neuralgia
Abdominal colic, Dysuria, Episodic abdominal pain, Pollakisuria, Constipation ORPHA:60039
Multiple System Atrophy, Parkinsonian Type
Constipation ORPHA:98933
Opitz-Kaveggia Syndrome
Constipation, Short stature, Hypospadias, Attention deficit hyperactivity disorder OMIM:305450
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Constipation, Chordee, Short stature, Feeding difficulties OMIM:616728
Kinsship Syndrome
Short stature, Renal hypoplasia, Horseshoe kidney, Chronic constipation, Gastroesophageal reflux,... OMIM:619297
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Short stature, Decreased serum iron, Nephrolithiasis, Feeding difficulties, Gastroesophageal refl... ORPHA:438213
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhe... OMIM:301074
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Co... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations