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, Malabsorption OMIM:606824
Glucose-Galactose Malabsorption
Renal insufficiency, Diarrhea, Nephrolithiasis, Hematuria, Vomiting 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
Hypoglycemia, Diarrhea, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, A... OMIM:606528
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Glucose/Galactose Malabsorption
Glycosuria, Chronic diarrhea, Abnormal oral glucose tolerance, Malabsorption OMIM:606824
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Familial Renal Glucosuria
Recurrent urinary tract infections, Insulin resistance, Abnormal circulating insulin concentratio... ORPHA:69076
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hy... OMIM:600955
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin-resistant diabetes melli... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Ketonuria, Ketotic hypoglycemia, Glycosuria, Postprand... ORPHA:2089
Hyperglycinuria, Glycosuria OMIM:138070
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria OMIM:618857
Cataract 47
Glycosuria OMIM:612018
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Vomiting, Delayed puberty ORPHA:314811
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Diarrhea, Hyperinsulinemia, Renal Fanconi syndrome, Vomiting, Pancreatic islet-cell ... ORPHA:263455
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Fanconi-Bickel Syndrome
Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hepatocellular carcinoma, Hyper... ORPHA:2088
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Nephrocalcinosis, Aminoaciduria,... OMIM:616026
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Hyperglycemia, Hyperinsulinemia OMIM:616214
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity ORPHA:71529
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Malabsorption, Hypercalciuria, Generalized aminoacidur... OMIM:227810
Insulin-Resistance Syndrome Type B
Proteinuria, Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsuline... ORPHA:2298
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... ORPHA:71526
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal tubular acidosis, Aminoacidu... OMIM:613404
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Fasting hyperin... ORPHA:35878
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth... OMIM:619489
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... OMIM:231680
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Excessive insulin response to glucagon test, Maternal diabetes, Large for gestational age, Hyperi... ORPHA:276580
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... OMIM:619079
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Malabsorption, Diarrhea, Bicarbonaturia, Bicarbonate-wasting renal tubular aci... ORPHA:47159
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Postnatal growth reta... ORPHA:453533
Obesity And Hypopigmentation
Hyperinsulinemia, Polyphagia, Obesity OMIM:620195
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Eiken Syndrome
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Short ... ORPHA:79106
Obesity Due To Sim1 Deficiency
Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity di... ORPHA:369873
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Excessive insulin response to glucagon test, Large for gestational age, Hyperinsulinemia, Hypogly... ORPHA:276575
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Dia... OMIM:137920
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... ORPHA:103907
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Short stature, Precocious puberty, Insulin-resistant dia... OMIM:262190
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Clubbing o... ORPHA:2198
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia OMIM:617885
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Renal cyst, Steatorrhea, Proximal tubulopathy, Protein-losing enteropa... OMIM:602579
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Ren... ORPHA:411629
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Dysphagia, Abnormal thymus morphology, Glycosuria... ORPHA:589
Seckel Syndrome 10
Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizing hormone level, In... OMIM:617253
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonat... OMIM:229600
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Malabsorption, Renal tubular dysfunction, Glucose intolerance, Glycosuria, Exocrine pancreatic in... OMIM:616539
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Osteoporosis, Type II diabetes mellitus OMIM:610947
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Hyperinsulinemic hyp... ORPHA:79319
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Renal steatosis OMIM:261650
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Short stature, Osteoporosis, Delayed thelarche, Delayed puberty, Hyperinsuline... OMIM:616033
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Lacticaciduria OMIM:619063
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... OMIM:615237
Solitary Fibrous Tumor
Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Urinary retention, Constipation, Hyp... ORPHA:2126
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy, Vomiting, Diarrhea OMIM:615863
Mitchell-Riley Syndrome
Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly p... OMIM:615710
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea OMIM:613291
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Hypoglycemia ORPHA:664
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Crypt hyperplasia OMIM:613217
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... ORPHA:99885
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hypoglycemia OMIM:615158
Wilson Disease
Hypoparathyroidism, Hyperphosphaturia, Proteinuria, Hepatocellular carcinoma, Esophageal varix, N... OMIM:277900
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Blue Diaper Syndrome
Diarrhea, Elevated circulating thyroid-stimulating hormone concentration, Increased proinsulin:in... ORPHA:94086
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Tenorio Syndrome
Hypoglycemia, Macroglossia, Enuresis, Gastroesophageal reflux, Recurrent aphthous stomatitis, Hyp... OMIM:616260
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Abnormal response to glucagon stimu... ORPHA:79644
Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Chroni... ORPHA:79327
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Celiac disease, Abnormality of the thyroid gland, Primary adrenal insufficien... ORPHA:3143
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Short toe, Hyperinsulinemia, Obesity, Type II diab... ORPHA:3085
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance, Short stature, Short middle phalanx of finger, Anal atresia OMIM:309620
Pearson Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Proteinuria, Decreased response to gr... ORPHA:699
Estrogen Resistance
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia... OMIM:615363
Propionic Acidemia
Constipation, Organic aciduria, Hypoglycemia ORPHA:35
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Diabetes mellitus, Intestinal malrotation, Glycosuria, Colon perforation, H... OMIM:600001
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho... OMIM:300048
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... OMIM:619445
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... ORPHA:2502
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Malabsorption ORPHA:100025
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Esophageal spasms, Proteinuria, Odynophagia, Chronic kidney... ORPHA:447
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Deviation of finger, Incre... ORPHA:1227
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Rickets, Femoral bowing, ... OMIM:600081
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious puberty, Incre... OMIM:614736
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... ORPHA:280356
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ha... ORPHA:251992
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Decreased circulating parathyroid hormone level, Bowing of the legs, Delayed e... OMIM:241530
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Hyperinsulinemia, Short 5th metacarpal ORPHA:66518
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome OMIM:201910
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Renal hypoplasi... OMIM:611376
Estrogen Resistance Syndrome
Osteopenia, Delayed epiphyseal ossification, Absence of secondary sex characteristics, Hyperinsul... ORPHA:785
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica... OMIM:264700
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica... OMIM:277440
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Microvillus Inclusion Disease
Villous atrophy, Diarrhea, Nephrocalcinosis, Abnormal small intestinal villus morphology, Abnorma... ORPHA:2290
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Puberty and gonadal disorders, Macroglossia, Protein-losing enteropathy, Increased circulating an... ORPHA:79320
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Diarrhea, Methylmalonic aciduria, Chronic constipation, Elevated urine suberic acid... OMIM:248360
Atypical Werner Syndrome
Renal neoplasm, Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant d... ORPHA:79474
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hypoglycemia ORPHA:6
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Monocarboxylate Transporter 1 Deficiency
Ketonuria, Ketotic hypoglycemia OMIM:616095
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone co... OMIM:131100
Protein-losing enteropathy, Hypoglycemia ORPHA:95428
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Diarrhea, Steatorrhea, Hematochezia, Pr... ORPHA:2070
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, ... ORPHA:289157
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Diarrhea, Megacystis, Hydron... OMIM:155310
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... ORPHA:90291
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... OMIM:300106
X-Linked Acrogigantism
Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,... ORPHA:300373
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El... ORPHA:276152
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Penile freckling, Hurthle cell thyroid adenoma, Thyroid carcinoma, Lymphoid... ORPHA:210548
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Malrotation of... ORPHA:139466
Galactokinase Deficiency
Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Failur... ORPHA:79237
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Insulin resistance, Bone cyst, Hyperinsulinemia... ORPHA:528
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Reni Syndrome
Diffuse mesangial sclerosis, Hypoglycemia, Proteinuria, Mesangial hypercellularity, Hypothyroidis... OMIM:617575
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Donohue Syndrome
Precocious puberty, Postnatal growth retardation, Hyperinsulinemia, Large hands, Severe failure t... OMIM:246200
Mandibuloacral Dysplasia
Postnatal growth retardation, Abnormal tongue morphology, Insulin resistance, Insulin-resistant d... ORPHA:2457
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadis... ORPHA:95619
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Short stature, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossificati... OMIM:300554
Orthostatic Hypotension 2
Hypoglycemia, Decreased glomerular filtration rate OMIM:618182
Scorpion Envenomation
Ketonuria, Diarrhea, Vomiting, Glycosuria, Hyperglycemia, Acute kidney injury ORPHA:466677
Perlman Syndrome
High, narrow palate, Hypoplasia of penis, Hyperinsulinemia, Nephroblastoma ORPHA:2849
Chylomicron Retention Disease
Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Steatorrhea OMIM:246700
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Growth delay, Glucose intolerance, Progres... OMIM:608612
Prader-Willi Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Hypogo... OMIM:176270
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... OMIM:250220
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Solitary Rectal Ulcer Syndrome
Anal fissure, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipation, Bloody mucoid... ORPHA:209964
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Impaired glucose tolerance, Down-sloping shoulders, Coxa valga, Postnatal growth reta... OMIM:248370
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... ORPHA:263665
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad... ORPHA:2547
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... OMIM:175500
Hypoadrenocorticism, Familial
Hypoglycemia, Vomiting, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Protein-losing enteropathy ORPHA:103910
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, 3-Methylglutaric acid... OMIM:246450
Congenital Disorder Of Glycosylation, Type Ih
Diarrhea, Protein-losing enteropathy, Vomiting, Decreased circulating T4 concentration, Hypothyro... OMIM:608104
Trigonocephaly 1
High, narrow palate, Meckel diverticulum, Long penis OMIM:190440
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Elevated c... ORPHA:913
Diabetes mellitus, Abnormal renal morphology, Abnormal jejunum morphology ORPHA:449280
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Short stature, Precocious puberty, Insulin r... ORPHA:769
Oculoskeletodental Syndrome
Renal agenesis, Hypercalciuria, Macroglossia, Mucopolysacchariduria, Protein-losing enteropathy, ... OMIM:618440
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Pyloric stenosis, Insulin resistance, Ileus, Osteoporosis, Hyperinsulinemia, Dysphagi... OMIM:613327
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperactivity, Hyperinsulinemia ORPHA:363400
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Glomerulonephritis, Chronic diarrhea, Ileus, Type I diabetes mellitus, Hypothyro... OMIM:304790
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Diarrhea, Fasting hyperinsulinemia, Hypoglycemic seizures, Vomiting, Hyper... ORPHA:71212
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Hypoglycemia, Vomiting, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisova... OMIM:210200
Immunodeficiency 31C
Villous atrophy, Diabetes mellitus, Diarrhea, Gastrointestinal eosinophilia, Protein-losing enter... OMIM:614162
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Medium chain dicarboxylic aciduria, Hypoglycemia, Hyperglycinuria, Vomiting OMIM:201450
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Elevated circulating thyroid-stimulating hormone concentration, Secretory diarrhea, Hem... OMIM:618183
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Small for gestational age, Sho... ORPHA:221008
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Diarrhea, Vo... ORPHA:230
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Central hypothyroidis... OMIM:616113
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Bloody diarrhea OMIM:614328
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Elevated urinary epine... OMIM:162300
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... ORPHA:289176
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Malabsorption, Reduced bone mineral density, Long fibula, Abnormal metaphy... ORPHA:935
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidis... ORPHA:95496
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Refractory Celiac Disease
Villous atrophy, Malabsorption, Chronic diarrhea, Protein-losing enteropathy, Jejunitis ORPHA:398063
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi... OMIM:601346
Glycogen Storage Disease Ia
Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Fasting hypoglyce... OMIM:232200
Cat Eye Syndrome
Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft pala... OMIM:115470
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Intestinal perforation, Rectal prolapse, Diarrhea, Colonic stenosis, Peritonitis, Bloody ... ORPHA:90038
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Episodic vomiting, Lacticaciduri... OMIM:615751
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Postnatal growth retardation, Insulin resistance, Rectal prolapse, Hyperinsulinemia, Megarectum, ... ORPHA:508
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Glycogen Storage Disease Ic
Renal insufficiency, Hypoglycemia, Proteinuria, Stomatitis, Hematuria, Focal segmental glomerulos... OMIM:232240
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Small for gestational age, Apl... ORPHA:221016
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... OMIM:271665
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Celiac disease, Diarrhea,... ORPHA:199299
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Chronic diarrhea, Hypercalciuria, 3-Methylglutaric aciduria, Rena... OMIM:557000
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Adrenal calcification, Ad... ORPHA:85138
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Fat malabsorption, Renal cyst, Steatorrhea ORPHA:79303
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Glycogen Storage Disease Ib
Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Inflammation of t... OMIM:232220
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis OMIM:614602
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Diarrhea, Type I diabetes mellitus, Fat malabsorption, Diabetes insipidus ORPHA:96180
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Diarrhea, Hepatocellular carcinoma OMIM:601847
Autoinflammation With Infantile Enterocolitis
Episodic vomiting, Villous atrophy, Secretory diarrhea, Enterocolitis OMIM:616050
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Recurrent urinary tract infections, Malabsorption, Protracted diarrhea, Colitis OMIM:209920
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Disproportionate short sta... ORPHA:93317
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Fg Syndrome Type 1
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Gastroe... ORPHA:93932
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Acholic stools, Diarrhea, Steatorrhea OMIM:607765
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Thyroid lymphangiectasia, Rectal prolapse, Narrow palate, Horseshoe kidney, Prote... OMIM:235510
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Renal insufficiency, Hypoglycemia, Paralytic ileus, Nephrocalcinosis... OMIM:276700
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... ORPHA:79076
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short stature, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Ir... OMIM:610442
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Neoplasm of the adrenal cortex, Hypoglycemia, Abnormal large intestine morp... ORPHA:109
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Secre... OMIM:619377
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Thyroiditis, Inflammation of the large int... OMIM:614700
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral density, Glu... ORPHA:99413
Turner Syndrome
Osteopenia, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral density, Glu... ORPHA:881
Mosaic Monosomy X
Osteopenia, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral density, Glu... ORPHA:99228
Monosomy X
Osteopenia, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral density, Glu... ORPHA:99226
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Cleft palate, High palate, Protein-losing enteropathy, Micropenis, Hydr... OMIM:235255
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Bloody diarrhea, Rectal... ORPHA:436252
Perlman Syndrome
Distal ileal atresia, Nephrogenic rest, Hypoglycemia, Renal hamartoma, Nephroblastoma, Nephroblas... OMIM:267000
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Chronic diarrhea, Thyroiditis, Type I diabetes mellitus, Hypothyroidism OMIM:606367
Chylomicron Retention Disease
Fat malabsorption, Vomiting, Diarrhea, Steatorrhea ORPHA:71
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC... ORPHA:90790
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Abnormality of the endocrine system, Diarrhea, Esophageal carcinoma, Functional ... ORPHA:391487
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption, Diarrhea OMIM:211600
Gastrointestinal hemorrhage, Renal insufficiency, Diabetes mellitus, Gastritis, Hematemesis, Diar... ORPHA:73263
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... ORPHA:210122
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Proteinuria ORPHA:79086
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Small for gestational ag... ORPHA:2909
Metachromatic Leukodystrophy
Urinary incontinence, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladde... ORPHA:512
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Reduced renal corticomedullary differentiation, ... ORPHA:731
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Proteinuria, Hypergonadotropic hypogonadism, Diarrhea, Renal cyst, Nephrotic syn... OMIM:212065
Fat malabsorption OMIM:200100
Lipodystrophy, Congenital Generalized, Type 1
Cystic angiomatosis of bone, Diabetes mellitus, Decreased serum leptin, Hyperinsulinemia, Insulin... OMIM:608594
Matthew-Wood Syndrome
Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis ORPHA:2470
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... ORPHA:2929
Meckel diverticulum, Abnormality of the ureter, Intestinal malrotation, Abnormal renal morphology ORPHA:1666
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Gastroesophagea... OMIM:620185
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Functional abnormality of the bladder, Nephrolithiasis, Cleft palate,... ORPHA:2953
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Hypospadias, Maternal diabetes, Horseshoe kidney, Ante... ORPHA:1708
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, High palate, Protein-losing enteropathy, Micropenis, Hydronephrosis ORPHA:1655
Tarp Syndrome
Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High palate, Meckel diverticulum, H... OMIM:311900
Isolated Biliary Atresia
Dark yellow urine, Acholic stools, Fat malabsorption, Hypopituitarism, Hypothyroidism ORPHA:30391
Congenital Tracheal Stenosis
Abnormality of the kidney, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag... ORPHA:141127
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption OMIM:214950
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Chronic diarrhea, Vomiting OMIM:619510
Woodhouse-Sakati Syndrome
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan... ORPHA:3464
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, Functional abnormality of the... ORPHA:90362
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Meckel diverticulum OMIM:616395
Lipodystrophy, Congenital Generalized, Type 2
Cystic angiomatosis of bone, Decreased serum leptin, Hyperinsulinemia, Insulin-resistant diabetes... OMIM:269700
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... ORPHA:90695
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption ORPHA:79302
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Dilatation of the renal pel... OMIM:265380
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus OMIM:151660
Fanconi Anemia
Recurrent urinary tract infections, Hydroureter, Aganglionic megacolon, Hypospadias, Renal insuff... ORPHA:84
Tarp Syndrome
Cleft palate, Horseshoe kidney, Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Hydro... ORPHA:2886
Fryns Syndrome
Ureteral duplication, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Renal agenesis,... OMIM:229850
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Hypopituitarism, Diabetes mellitus, Decreased response... ORPHA:811
Meier-Gorlin Syndrome 7
Urethral stricture, Anal stenosis, Hypospadias, Cleft palate, Duodenal stenosis, Anteriorly place... OMIM:617063
Fraser Syndrome 1
Abnormal small intestine morphology, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Cle... OMIM:219000
Syndromic Diarrhea
Villous atrophy, Gastritis, Renal hypoplasia, Bloody diarrhea, Colitis, Hypoplasia of the thymus,... ORPHA:84064
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Abnormal circulating thyroid ... OMIM:619991
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Cleft palate, Nephrotic syndrome, High palate, Constipatio... OMIM:601776
Steinert Myotonic Dystrophy
Diabetes mellitus, Intestinal pseudo-obstruction, Decreased response to growth hormone stimulatio... ORPHA:273
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Pyloric stenosis, Pyelonephritis, Urethral diverticulum, Mult... ORPHA:90349
Osteopetrosis, Autosomal Recessive 7
Growth delay, Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Trisomy 8P
Fetal pyelectasis, Malrotation of small bowel, Cleft palate, Nephrocalcinosis, Hydronephrosis, Co... ORPHA:264450
Chronic diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Hypothyroidism ORPHA:14
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Dilatation of the renal pelvis, Cleft palate, Horseshoe ... OMIM:274000
Genitopatellar Syndrome
Anal stenosis, Multicystic kidney dysplasia, Malrotation of small bowel, Anteriorly placed anus, ... OMIM:606170
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum, Vomiting, Small bowel diverticula ORPHA:90348
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Diarrhea, Colitis, Vomiting, Anoperineal fistula, Cro... OMIM:619381
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Cleft palate, Narrow palat... OMIM:312870
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Glucose-Galactose Malabsorption
Renal insufficiency, Diarrhea, Nephrolithiasis, Hematuria, Vomiting ORPHA:35710
Wolf-Hirschhorn Syndrome
Hypospadias, Precocious puberty, Malrotation of small bowel, Cleft palate, Gastroesophageal reflux OMIM:194190
Osteopenia, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Lon... 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