Not currently registered for phenotyping at IMPC

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

Gene Summary

solute carrier family 5 (sodium/glucose cotransporter), member 1
Sglt1,  sodium glucose cotransporter 1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Slc5a1 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 Slc5a1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Glucose/Galactose Malabsorption
Glycosuria, Chronic diarrhea, Abnormal oral glucose tolerance OMIM:606824
Glucose-Galactose Malabsorption
Hematuria, Diarrhea, Nephrolithiasis, Vomiting, Osmotic diarrhea, Renal insufficiency ORPHA:35710

The table below shows human diseases predicted to be associated to Slc5a1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Diarrhea, Abnormal intestine morphology, Vomiting, H... OMIM:606528
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Small for gestational age, Hypoinsulinem... ORPHA:99886
Abnormality of the kidney, Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Renal ... ORPHA:552
Proprotein Convertase 1/3 Deficiency
Diarrhea, Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating c... OMIM:600955
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Familial Renal Glucosuria
Glycosuria, Recurrent urinary tract infections, Nephropathy, Renal tubular dysfunction ORPHA:69076
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Ketotic hypoglycemia, Glycosuria, Postprandial hypergl... ORPHA:2089
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Glycosuria, Hyperglycinuria OMIM:138070
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Variegate Porphyria
Elevated urinary delta-aminolevulinic acid, Increased fecal protoporphyrin concentration, Increas... OMIM:176200
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Ketonuria OMIM:618857
Fanconi Renotubular Syndrome 2
Elevated circulating parathyroid hormone level, Decreased glomerular filtration rate, Renal phosp... OMIM:613388
Cataract 47
Glycosuria OMIM:612018
Glucose/Galactose Malabsorption
Glycosuria, Chronic diarrhea, Abnormal oral glucose tolerance OMIM:606824
Short Stature Due To Ghsr Deficiency
Delayed puberty, Hypoglycemia, Vomiting, Decreased serum insulin-like growth factor 1 ORPHA:314811
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Diarrhea... ORPHA:263455
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Polyphagia, Short stature, Obesity, Aggressive behavior ORPHA:329249
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal insufficiency, Aminoaciduria OMIM:615605
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Fasting hypoglycemia, Hepatoce... ORPHA:2088
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Diarrhea, Increase... OMIM:121300
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Renal tubular dysfunction, Glycosuria, Hyperphosphaturia, Impai... OMIM:134600
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Hypoglycemia, Diabetes mellitus, Am... OMIM:616026
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Hypoglycemia, Decreased serum insulin-like grow... OMIM:262400
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria OMIM:618913
Hyperinsulinemia, Hyperglycemia OMIM:616214
Dent Disease 1
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300009
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Polyphagia, Obesity, Type II diabetes mellitus ORPHA:71529
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal salivary gland morphology, Hyperinsulinemic hypoglycemia, Fasting hypo... ORPHA:2298
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decrea... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decrea... ORPHA:71526
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Nephrogenic diabetes insipidus, Glycosuria, Nephrocalcinosis, Proteinuria... OMIM:613404
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Osteopenia, Reduced bone mineral density, Long toe, Short stature, ... OMIM:619489
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Increased urine alpha-ketoglutarate conc... ORPHA:35878
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Glucose intolerance ORPHA:369873
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Chronic diarrhea, Abnormal intestine morpholog... OMIM:619079
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Adren... OMIM:262700
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R... ORPHA:3337
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Generalized bone deminerali... OMIM:600785
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Polyphagia OMIM:620195
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Eiken Syndrome
Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabu... ORPHA:79106
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased body weigh... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Agitation, Diffuse pancreatic... ORPHA:276575
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Fasting hypoglycemia, Hypercalciuria, Renal tubular dysfunction, Beta ... OMIM:227810
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Vomiting, Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Renal Fanconi syndrome, Rena... ORPHA:436271
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Maturity-onset diabetes of the young, Multiple glomerular cysts, Hypos... OMIM:137920
Porphyria, Acute Hepatic
Elevated urinary delta-aminolevulinic acid, Vomiting OMIM:612740
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
High palate, Glycosuria, Hyperphosphaturia, Renal Fanconi syndrome, Proteinuria, Aminoaciduria, R... OMIM:220110
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, High palate, Short stature, Pr... OMIM:262190
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid OMIM:206400
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Renal phosphate wasting, Proximal tubulopathy, Microscopic hema... ORPHA:411634
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-... ORPHA:174
Fructose Intolerance, Hereditary
Bicarbonaturia, Gastrointestinal hemorrhage, Transient aminoaciduria, Proximal tubulopathy, Vomit... OMIM:229600
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Abnormal esophagus physiology, Gastroesophageal... ORPHA:2198
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Di... ORPHA:47159
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Polyphagia, Obesity, Increased serum leptin, Insulin resistance OMIM:617885
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Diarrhea, Proximal tubulopathy, Renal cyst, Vomiting, Hy... OMIM:602579
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Abnormality of thyroid physiology, Vomiting, Glycosuria, Hyperp... ORPHA:411629
Myasthenia Gravis
Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Dysphagia, Abnormal thymus morp... ORPHA:589
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome OMIM:268315
Seckel Syndrome 10
Glucose intolerance, Impaired glucose tolerance, Glycosuria, Elevated circulating follicle stimul... OMIM:617253
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance, Osteoporosis OMIM:610947
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Agitation, Diffuse pancreatic islet hyperplasia... ORPHA:276556
Gastrointestinal hemorrhage, Protein-losing enteropathy, Diarrhea, Hypothyroidism, Vomiting, Hype... ORPHA:79319
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Polyphagia, Primary hyper... ORPHA:97279
Hereditary Coproporphyria
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Episodic vomiting,... ORPHA:79273
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Renal steatosis, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Osteoporosis, Short stature, Hyperinsulinemic hypoglycemia, D... OMIM:616033
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level, Chr... ORPHA:103907
Congenital Short Bowel Syndrome
Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, Congenital shortened sm... OMIM:615237
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Protein-losing enteropathy, Vomiting, Villous atrophy OMIM:615863
Cystinosis, Nephropathic
Low-molecular-weight proteinuria, Polyuria, Delayed puberty, Male hypogonadism, Hematuria, Genera... OMIM:219800
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Lacticaciduria OMIM:619063
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Renal tubular dysfunction, Abnormality of the upper... ORPHA:99885
Solitary Fibrous Tumor
Hypoinsulinemia, Hypoglycemia, Constipation, Recurrent hypoglycemia, Neoplasm of the liver, Urina... ORPHA:2126
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Crypt hyperplasia, Villous atrophy OMIM:613217
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hypoglycemia, Aminoaciduria ORPHA:664
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Primary hypothyroidism, Diarrhea, Small intestinal dysmotilit... ORPHA:95427
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Alaninuria OMIM:615158
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Protracted diarrhea, Villous atrophy OMIM:251850
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Glucocorticoid Deficiency 3
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... OMIM:609197
Mitchell-Riley Syndrome
Meckel diverticulum, Diarrhea, Intestinal malrotation, Diabetes mellitus, Hyperglycemia, Acholic ... OMIM:615710
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Diarrhea, Blue urine, Increased p... ORPHA:94086
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Steatorrhea, Fat malabsorption, Chronic diarrhea OMIM:613291
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Abnormality of the kidney, Protein-losing enteropathy, Abnormality of the gastrointestinal tract,... ORPHA:79327
Tenorio Syndrome
Recurrent aphthous stomatitis, Gastroesophageal reflux, Hypoinsulinemia, Enuresis, Hypoglycemia, ... OMIM:616260
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Abnorma... ORPHA:3143
Porphyria, Acute Intermittent
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Diarrhea, Hepatocellular carcin... OMIM:176000
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Short stature, Obesity, Short toe, Type II diab... ORPHA:3085
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Glycosuria, Glucose intolerance, Exocrine pancreatic insufficiency, Renal tubular dysfunction OMIM:616539
Wilson Disease
Increased urinary copper concentration, Hypoparathyroidism, Hypercalciuria, Esophageal varix, Hep... OMIM:277900
Pearson Syndrome
Steatorrhea, Decreased response to growth hormone stimulation test, Hypoparathyroidism, Chronic d... ORPHA:699
Estrogen Resistance
Delayed puberty, Osteopenia, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired ... OMIM:615363
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short stature, Short middle phalanx of finger, Glucose intolerance, Anal atresia OMIM:309620
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Propionic Acidemia
Constipation, Hypoglycemia, Organic aciduria ORPHA:35
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal cortical bone morphology, Abnorma... ORPHA:3344
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Microcolon, Intestinal malrotation, Glycosuria, Diabetes mellitus, Hypergly... OMIM:600001
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Pylo... OMIM:300048
Visceral Myopathy 1
Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Intestinal pseudo-obstruc... OMIM:155310
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, Microvillus inclusions... OMIM:619445
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Aplasia/Hypoplasia of metatarsal bones, Disproportionate short-limb short stature, Flared metaphy... ORPHA:2502
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Bangstad Syndrome
Hyperinsulinemia, Short stature, Hypothyroidism, Deviation of finger, Primary gonadal insufficien... ORPHA:1227
Paroxysmal Nocturnal Hemoglobinuria
Acute kidney injury, Chronic kidney disease, Hemosiderinuria, Glycosuria, Hemoglobinuria, Esophag... ORPHA:447
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Growth d... OMIM:600081
Porphyria Variegata
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Neurogenic bladder... ORPHA:79473
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar... ORPHA:3467
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin... OMIM:241530
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus... ORPHA:280356
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia, Eleva... OMIM:201910
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, De... OMIM:614736
Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Colorectal polyposis, Multiple in... ORPHA:251992
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Uric acid nephrolithias... ORPHA:411536
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Hyperinsulinemia, Short 5th metacarpal ORPHA:66518
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypergonadotropic hypogonadism, V... OMIM:617872
Mungan Syndrome
Intestinal pseudo-obstruction, Gastroparesis, Vesicoureteral reflux, Barrett esophagus, Renal hyp... OMIM:611376
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Subperiosteal bone resorption, Elevated circulating parathyroid hormone level, Fibular b... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Rickets, Subperiosteal bone resorption, Elevated circulating parathyroid hormone level, Fibular b... OMIM:277440
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Gastrointestinal hemorrhage, Enlarged kidney, Melena,... OMIM:276700
Estrogen Resistance Syndrome
Osteopenia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating horm... ORPHA:785
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... ORPHA:75508
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Microvillus Inclusion Disease
Diarrhea, Abnormal small intestinal villus morphology, Nephrocalcinosis, Abnormal renal physiolog... ORPHA:2290
Small Bowel Atresia
Intestinal malrotation, Intestinal hypoplasia, Vomiting, Jejunal atresia ORPHA:1201
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... OMIM:615962
Increased circulating androgen concentration, Protein-losing enteropathy, Puberty and gonadal dis... ORPHA:79320
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Renal neoplasm, Neoplasm of the... ORPHA:79474
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Glucagonoma, Increased circulating prolactin concentration, Adrenocortical adenoma,... OMIM:131100
Alpha-Heavy Chain Disease
Abnormal small intestine morphology ORPHA:100025
Hypoglycemia, Protein-losing enteropathy ORPHA:95428
Vascular Hyalinosis
Diarrhea, Protein-losing enteropathy, Hematochezia OMIM:277175
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Macrocephaly-Intellectual Disability-Autism Syndrome
Lymphoid nodular hyperplasia, Thyroid carcinoma, Intestinal polyposis, Penile freckling, Hurthle ... ORPHA:210548
Acute Intermittent Porphyria
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog... ORPHA:79276
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macroscopic hematur... ORPHA:79233
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fecal osmolality, Abnormal sma... ORPHA:92050
Systemic Sclerosis
Abnormality of the kidney, Acute kidney injury, Abnormality of the gastrointestinal tract, Gastro... ORPHA:90291
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin resistance... OMIM:604367
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Glucocorticoid Deficiency 2
Abnormal circulating renin, Decreased circulating cortisol level, Recurrent hypoglycemia, Increas... OMIM:607398
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Dicarboxylic aciduria, Diarrhea, Elevated urinary 3-hydroxybutyric acid, Vomiting, H... OMIM:605911
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Failure to thrive, Hypoglycemia, Small for gest... ORPHA:79237
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Scorpion Envenomation
Acute kidney injury, Diarrhea, Vomiting, Glycosuria, Hyperglycemia, Ketonuria ORPHA:466677
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Precocious puberty in females, Bone cyst, Failure to thrive, Large hands, Insul... ORPHA:528
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Intestinal pseudo-obstruction, Intestinal malrotation, Vomiting, Colonic d... OMIM:243180
Donohue Syndrome
Postnatal growth retardation, Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, P... OMIM:246200
Serkal Syndrome
Abnormality of the adrenal glands, Hypospadias, Hypoplasia of the bladder, Renal agenesis, Malrot... ORPHA:139466
Mandibuloacral Dysplasia
Postnatal growth retardation, Hyperinsulinemia, Abnormal tongue morphology, Short clavicles, Oste... ORPHA:2457
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin... OMIM:300554
Reni Syndrome
Hypoglycemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephrotic syn... OMIM:617575
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Orthostatic Hypotension 2
Hypoglycemia, Decreased glomerular filtration rate OMIM:618182
Perlman Syndrome
Nephroblastoma, High, narrow palate, Hyperinsulinemia, Hypoplasia of penis ORPHA:2849
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Short clavicles, Osteolytic defects of the distal phalanges of the hand, High p... OMIM:608612
Chylomicron Retention Disease
Diarrhea, Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting OMIM:246700
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... OMIM:250220
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Diarrhea, Vom... ORPHA:2070
Solitary Rectal Ulcer Syndrome
Intermittent diarrhea, Rectal prolapse, Anal fissure, Bloody diarrhea, Hematochezia, Stercoral ul... ORPHA:209964
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Abnormal gastric mucosa morphology, Constipati... ORPHA:263665
Prader-Willi Syndrome
Delayed puberty, Radial deviation of finger, Syndactyly, Intrauterine growth retardation, Clinoda... OMIM:176270
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the upper urinary tr... ORPHA:2547
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenuria, Nephrolit... OMIM:248250
Hypocalcemic Vitamin D-Dependent Rickets
Postnatal growth retardation, Rickets, Elevated circulating parathyroid hormone level, Delayed ep... ORPHA:289157
Mandibuloacral Dysplasia With Type A Lipodystrophy
Postnatal growth retardation, Osteopenia, Hyperinsulinemia, Short clavicles, Osteolytic defects o... OMIM:248370
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Diarrhea, Hypothyroidism, Vomiting, Decreased circulating T4 concentr... OMIM:608104
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Protein-losing enteropathy, Hematochezia ORPHA:103910
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthinuria, Decreased urinary sulfate, Increased urinary taurine, Decreased urinary urate, Incre... OMIM:252150
Hyperuricemia, Hprt-Related
Hyperuricosuria, Nephrolithiasis, Renal insufficiency OMIM:300323
Hypoadrenocorticism, Familial
Vomiting, Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Abnormal renal morphology, Diabetes mellitus, Abnormal jejunum morphology ORPHA:449280
Trigonocephaly 1
Meckel diverticulum, High, narrow palate, Long penis OMIM:190440
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Renal potassium wasting, ... OMIM:601678
Oculoskeletodental Syndrome
Protein-losing enteropathy, Hypercalciuria, Mucopolysacchariduria, Renal agenesis, Hypothyroidism... OMIM:618440
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hyperinsulinemia, Osteoporosis, Pyloric stenosis, Failure to thrive, Dysphagia, Insul... OMIM:613327
Rabson-Mendenhall Syndrome
Polydactyly, Polydipsia, Increased circulating androgen concentration, Increased serum testostero... ORPHA:769
Zollinger-Ellison Syndrome
Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Pituitary growth hormone cel... ORPHA:913
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Chronic diarrhea, Steatorrhea, Fat malabsorption ORPHA:309108
Immunodeficiency 31C
Delayed puberty, Protein-losing enteropathy, Diarrhea, Gastrointestinal eosinophilia, Hypothyroid... OMIM:614162
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Insulin resistance, Hyperinsulinemia ORPHA:363400
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated urinary 7-hydroxyoctanoic acid level, Vomiting, Hypoglycemia, Medium ch... OMIM:201450
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Hyperprostaglandinuria, Hypercalciuria, Impaired renal c... ORPHA:89938
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Polyuria, Protein-losing enteropa... OMIM:618183
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Uric acid nephrolithiasis, Crystalluria, Hyperuricosuria ORPHA:411543
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Di... ORPHA:71212
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Chronic diarrhea, Hypothyroidism, Type I diabetes mellitus, Ileus, Glomeruloneph... OMIM:304790
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Glossitis, Diarrhea, Hamartomatous polyposis, Vomiting, Hematochezia,... OMIM:175500
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Bloody diarrhea, Villous atrophy OMIM:614328
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism, Type I diabetes mellitus, Ab... OMIM:616113
Lesch-Nyhan Syndrome
Nephrolithiasis, Vomiting, Nephrocalcinosis, Dysphagia, Hyperuricosuria, Testicular atrophy OMIM:300322
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Diarrhea, Elevated urinary dopamine level, Vomiting, Nocturia, Insulin resistan... ORPHA:230
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Aganglionic megacolon, Diarrhea, Pheochromocytoma, Elevated urinary epinephr... OMIM:162300
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal ulnar metaphysis morphology, Finger symphalangism, Patellar hypoplasia, Meta... ORPHA:221008
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Hypoplasia of penis, Adrenal hypoplasia, Abnormality of the ... ORPHA:95496
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Colonic diverticula, Renal insufficiency OMIM:173900
Cat Eye Syndrome
Rectal fistula, Anal stenosis, Meckel diverticulum, Vesicoureteral reflux, Anal atresia, Intestin... OMIM:115470
Martinez-Frias Syndrome
Hypospadias, Intestinal hypoplasia, Tracheoesophageal fistula, Intestinal malrotation, Jejunal at... OMIM:601346
Glycogen Storage Disease Ia
Delayed puberty, Intermittent diarrhea, Enlarged kidney, Decreased glomerular filtration rate, Fa... OMIM:232200
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Renal potassium wasting, ... OMIM:241200
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Rectal prolapse, Acute colitis, Diarrhea, Anuria, Intestinal perforation, Bl... ORPHA:90038
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Diarrhea, ... ORPHA:70475
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis OMIM:616744
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Postnatal growth retardation, Rectal prolapse, Hyperinsulinemia, Fasting hypoglycemia, Severe int... ORPHA:508
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Glycogen Storage Disease Ic
Delayed puberty, Hematuria, Decreased glomerular filtration rate, Stomatitis, Hepatocellular carc... OMIM:232240
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Elevated urine acetoacetic acid level, Episodic vomiting, Hypoglycemia, Elevated urine... OMIM:615751
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short finger, Hip subluxation, Disproportionate short-limb short stature, Epiphyseal stippling, F... OMIM:271665
Refractory Celiac Disease
Chronic diarrhea, Protein-losing enteropathy, Jejunitis, Villous atrophy ORPHA:398063
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Reduced bone mineral density, Aganglionic megacolon, Abnormal metaphysis morphology, Long fibula ORPHA:935
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal ulnar metaphysis morphology, Finger symphalangism, Aplasia/hypoplasia involv... ORPHA:221016
Addison Disease
Renal salt wasting, Delayed puberty, Hypoparathyroidism, Diarrhea, Adrenal hypoplasia, Androgen i... ORPHA:85138
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Trichohepatoenteric Syndrome 2
Diarrhea, Chronic diarrhea, Colitis, Bloody diarrhea, Villous atrophy OMIM:614602
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Colonic atresia ORPHA:1198
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthinuria, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine l... OMIM:252160
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Secretory diarrhea, Episodic vomiting, Villous atrophy OMIM:616050
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypercalciuria, Abnormal renal tubular resorption, Hypermagnesiuria, Neph... ORPHA:73224
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Rhizomelic arm shortening, Iliac crest serration, Short palm, Metaphyseal chond... ORPHA:93317
Immunodeficiency, Common Variable, 8, With Autoimmunity
Thyroiditis, Colitis, Chronic diarrhea, Hypothyroidism, Inflammation of the large intestine, Atro... OMIM:614700
Glycogen Storage Disease Ib
Delayed puberty, Enlarged kidney, Decreased glomerular filtration rate, Hepatocellular carcinoma,... OMIM:232220
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Ectopic ... OMIM:235510
Fg Syndrome Type 1
Hypospadias, Gastroesophageal reflux, Small pituitary gland, High palate, Anal atresia, Abnormal ... ORPHA:93932
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Episodic vomiting, Ileoileal intussusception, Secretory diarrh... OMIM:619377
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... ORPHA:79076
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Carpal bone hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal striations, Flared meta... OMIM:610442
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Purine Nucleoside Phosphorylase Deficiency
Unusual gastrointestinal infection, Decreased urinary urate ORPHA:760
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Reduced bone mineral density, Abnormal forearm bone morphology, Splayed toes, In... ORPHA:99413
Turner Syndrome
Delayed puberty, Reduced bone mineral density, Abnormal forearm bone morphology, Splayed toes, In... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Reduced bone mineral density, Abnormal forearm bone morphology, Splayed toes, In... ORPHA:99228
Monosomy X
Delayed puberty, Reduced bone mineral density, Abnormal forearm bone morphology, Splayed toes, In... ORPHA:99226
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology ORPHA:83451
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Thyroid carcinoma, Intestinal polyposis, Neoplasm of the adrenal cortex, Hamartoma... ORPHA:109
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hypercalciuria, Chronic diarrhea, Vomiting, 3-Methylglutaric aciduria, Exocrine panc... OMIM:557000
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, High palate, Cleft palate, Hydronephrosis, Micropenis, Thyroid lympha... OMIM:235255
Combined Immunodeficiency-Enteropathy Spectrum
Gastrointestinal atresia, Rectal abscess, Bloody diarrhea, Hypoplasia of the thymus, Intestinal m... ORPHA:436252
Hematemesis, Gastrointestinal hemorrhage, Gastritis, Melena, Diarrhea, Vomiting, Enterocolitis, D... ORPHA:73263
Perlman Syndrome
Distal ileal atresia, Nephroblastomatosis, Renal hamartoma, Volvulus, Nephrogenic rest, Nephrobla... OMIM:267000
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Thyroiditis, Chronic diarrhea, Hypothyroidism, Type I diabetes mellitus, Villous atrophy OMIM:606367
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Abnormality of the endocrine system, Primary hypothyroidism, Thyroiditis, Diarrh... ORPHA:391487
Alstrom Syndrome
Polydactyly, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes in... OMIM:203800
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Fat malabsorption, Dark urine, Renal cyst ORPHA:79303
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Proteinuria, Insulin-resistant diabetes mellitus ORPHA:79086
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Diarrhea, Neurogenic bladder, Type I diabetes mellitus, Fat malabsorption ORPHA:96180
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Villous atrophy, Protracted diarrhea, Colitis OMIM:209920
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Intestinal malrotation, Volvulus,... ORPHA:210122
Metachromatic Leukodystrophy
Urinary incontinence, Neoplasm of the gallbladder, Bowel incontinence, Abnormal duodenum morpholo... ORPHA:512
Purine Nucleoside Phosphorylase Deficiency
Elevated urinary guanosine level, Recurrent urinary tract infections, Decreased urinary urate, El... OMIM:613179
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Bile Acid Synthesis Defect, Congenital, 1
Acholic stools, Diarrhea, Steatorrhea, Fat malabsorption OMIM:607765
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level, Secretory diarrhea OMIM:167100
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Diarrhea, Proximal tubulopathy, Renal cyst, Hypergonadotropic hypogonadism, Nephroti... OMIM:212065
Rothmund-Thomson Syndrome
Osteopenia, Hypoplasia of the ulna, Reduced bone mineral density, Metaphyseal striations, Aplasia... ORPHA:2909
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Gastrointestinal hemorrhage, Protein-losing enteropathy, Enlarged kidney, Re... ORPHA:731
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Adrenal hyperplasia, Precocious puberty, Decreas... ORPHA:786
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Cystic angiomatosis of bone, Decreased serum leptin, Polyphagia, Large hands, D... OMIM:608594
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypospadias, Renal insufficiency, High palate, Uric acid nephrolithiasis, Urolithiasis, Hyperuric... OMIM:300661
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Protein-losing enteropathy, Stomach cancer, Diarrhea, Hamartomatous ... ORPHA:2929
Matthew-Wood Syndrome
Renal hypoplasia, Duodenal stenosis, Horseshoe kidney, Vesicoureteral reflux ORPHA:2470
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Gastroesophagea... OMIM:620185
Chylomicron Retention Disease
Diarrhea, Steatorrhea, Fat malabsorption, Vomiting ORPHA:71
Meckel diverticulum, Intestinal malrotation, Abnormal renal morphology, Abnormality of the ureter ORPHA:1666
Musculocontractural Ehlers-Danlos Syndrome
High palate, Nephrolithiasis, Functional abnormality of the bladder, Constipation, Cleft palate, ... ORPHA:2953
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormal renal morphology, High palate, Hydronephrosis, Micropenis ORPHA:1655
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Maternal diabetes, Hypospadias, Meckel diverticulum, A... ORPHA:1708
Tarp Syndrome
Meckel diverticulum, High palate, Glossoptosis, Cleft palate, Hydronephrosis, Tongue nodules, Hor... OMIM:311900
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Functional abnormality of the gastrointestinal tract, Chronic diarrh... ORPHA:90362
Congenital Tracheal Stenosis
Abnormality of the kidney, Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal ... ORPHA:141127
Immunodeficiency 85 And Autoimmunity
Vomiting, Chronic diarrhea, Villous atrophy OMIM:619510
Woodhouse-Sakati Syndrome
Delayed puberty, Osteopenia, Decreased response to growth hormone stimulation test, Hyperinsuline... ORPHA:3464
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea, Fat malabsorption OMIM:211600
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Pyloric stenosis OMIM:616395
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Cystic angiomatosis of bone, Decreased serum leptin, Polyphagia, Large hands, T... OMIM:269700
Acrocephalopolydactylous Dysplasia
Hypoplasia of the small intestine, Enlarged kidney, Cystic renal dysplasia, Hypoplastic colon OMIM:200995
Fat malabsorption OMIM:200100
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hyperglycemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus OMIM:151660
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Esophageal atresia, Hypospadias, Meckel diverticulum, Dilatation of the bladder, Con... OMIM:265380
Fanconi Anemia
Aganglionic megacolon, Hydroureter, Hypospadias, Abnormal preputium morphology, Aplasia/Hypoplasi... ORPHA:84
Isolated Biliary Atresia
Hypothyroidism, Acholic stools, Dark yellow urine, Hypopituitarism, Fat malabsorption ORPHA:30391
Autosomal Recessive Cutis Laxa Type 1
Multiple bladder diverticula, Recurrent urinary tract infections, Vesicoureteral reflux, Urethral... ORPHA:90349
Tarp Syndrome
Glossoptosis, Cleft palate, Hydronephrosis, Abnormal duodenum morphology, Tongue nodules, Horsesh... ORPHA:2886
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption OMIM:214950
Fryns Syndrome
Aganglionic megacolon, Ureteral duplication, Esophageal atresia, Hypospadias, Meckel diverticulum... OMIM:229850
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Intestinal malrotation, Nephrotic syndrome, Constipation, Cleft palate, Hydronephros... OMIM:601776
Meier-Gorlin Syndrome 7
Meconium peritonitis, Anal stenosis, Hypospadias, Vesicoureteral reflux, High palate, Anal atresi... OMIM:617063
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Obsessive-compulsive trait, Abnormality of thyroid physiology, H... ORPHA:273
Syndromic Diarrhea
Intractable diarrhea, Gastritis, Polycystic kidney dysplasia, Colitis, Bloody diarrhea, Hypoplasi... ORPHA:84064
Fraser Syndrome 1
Renal hypoplasia/aplasia, Hypospadias, Renal hypoplasia, Cleft palate, Abnormal thymus morphology... OMIM:219000
Liver Disease, Severe Congenital
Protein-losing enteropathy, Hypospadias, Diarrhea, Recurrent urinary tract infections, Chronic ga... OMIM:619991
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Osteopetrosis, Autosomal Recessive 7
Growth delay, Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Trisomy 8P
Constipation, Bifid uvula, Nephrocalcinosis, Cleft palate, Hydronephrosis, Fetal pyelectasis, Mal... ORPHA:264450
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Meckel diverticulum, Vesicoureteral reflux, Dilatation of the renal pelvis,... OMIM:274000
Genitopatellar Syndrome
Anal stenosis, Multicystic kidney dysplasia, Anal atresia, Hypothyroidism, Hydronephrosis, Dyspha... OMIM:606170
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Vomiting, Small bowel diverticula, Bladder diverticulum, Pyelonephritis ORPHA:90348
Viss Syndrome
High, narrow palate, Cleft soft palate, Gastroesophageal reflux, Chronic gastritis, Chronic diarr... OMIM:619472
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Intractable diarrhea, Villous atrophy, Gastritis, Anoperineal fistula, Diarrhea, ... OMIM:619381
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Enlarged kidney, Hypospadias, Meckel diverticulum, Exaggerated median tongue furro... OMIM:312870
Hematemesis, Glossitis, Diarrhea, Bloody diarrhea, Vomiting, Inflammation of the large intestine,... ORPHA:707
Glucose-Galactose Malabsorption
Hematuria, Diarrhea, Nephrolithiasis, Vomiting, Osmotic diarrhea, Renal insufficiency ORPHA:35710
Alström Syndrome
Urinary incontinence, Precocious puberty in females, Primary hypothyroidism, Recurrent cystitis, ... ORPHA:64
Wolf-Hirschhorn Syndrome
Hypospadias, Gastroesophageal reflux, Precocious puberty, Cleft palate, Malrotation of small bowel OMIM:194190
Elevated circulating thyroid-stimulating hormone concentration, Osteopenia, Hyperinsulinemia, Hig... ORPHA:79318


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

There is no histopathology data for Slc5a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc5a1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Slc5a12em1(IMPC)Wtsi PMC7263671
Lactate Buildup at the Site of Chronic Inflammation Promotes Disease by Inducing CD4+ T Cell Metabolic Rewiring. Cell metabolism (November 2019) Slc5a12em1(IMPC)Wtsi 31708446

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Slc5a1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc5a1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter