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Gene: Slc5a1 MGI:107678

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Transient Neonatal Diabetes Mellitus
Macroglossia, Failure to thrive, Maturity-onset diabetes of the young, Hyperglycemia, Intrauterin... ORPHA:99886
Mody
Abnormal circulating insulin concentration, Nephropathy, Abnormal oral glucose tolerance, Glycosu... ORPHA:552
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Diarrhea, Vomiting, Hypoglycemia, Hyperinsulinemia, Renal tubular dysf... OMIM:606528
Proprotein Convertase 1/3 Deficiency
Diarrhea, Elevated circulating proinsulin concentration, Villous atrophy, Reactive hypoglycemia, ... OMIM:600955
Familial Renal Glucosuria
Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections ORPHA:69076
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketonuria, Glycosuria, Ketotic hypoglycemia, Abnormality of the gastr... ORPHA:2089
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314802
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Variegate Porphyria
Vomiting, Increased fecal protoporphyrin concentration, Increased urinary porphobilinogen, Porphy... OMIM:176200
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria OMIM:618857
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Elevated circulating pa... OMIM:613388
Cataract 47
Glycosuria OMIM:612018
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Chronic diarrhea, Glycosuria OMIM:606824
Short Stature Due To Ghsr Deficiency
Vomiting, Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314811
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Renal Glucosuria
Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Vomiting, Diarrhea, Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Pancreatic islet-cell... ORPHA:263455
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria,... ORPHA:2088
Coproporphyria, Hereditary
Vomiting, Diarrhea, Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Incr... OMIM:121300
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Hyperphosphaturia, Proteinuria, Diabet... OMIM:616026
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Nephritis, Abnormal circulating leptin concentrat... ORPHA:2298
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria, Ne... OMIM:613404
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Vomiting, Proximal tubulopathy, Glycosuria, Hypogly... OMIM:231680
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Postnatal growt... ORPHA:453533
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Glycosuria, Beta 2-microglobulinuria, Decreas... ORPHA:97362
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Hypoglyce... ORPHA:3337
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... OMIM:262700
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Aggressive behavior, Polyphagia, Short stature ORPHA:329249
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Elevated circulating parathyroid hor... OMIM:600785
Eiken Syndrome
Epiphyseal dysplasia, Delayed epiphyseal ossification, Abnormal fingertip morphology, High iliac ... ORPHA:79106
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobuli... OMIM:227810
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Megacystis, ... OMIM:619350
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Vomiting, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, R... ORPHA:436271
Renal Cysts And Diabetes Syndrome
Hypospadias, Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Maturity-onset diabetes of ... OMIM:137920
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Porphyria, Acute Hepatic
Elevated urinary delta-aminolevulinic acid, Vomiting OMIM:612740
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Polyphagia, Hyperinsulinemia OMIM:618406
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... OMIM:220110
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid OMIM:206400
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Hyperinsulinemic hypogl... ORPHA:35878
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Vomiting, Proximal tubulopathy, G... ORPHA:411634
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Disproportionate short-limb short stature, Obesity, ... ORPHA:174
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Vomiting, Proximal tubulopathy, Glycosuria, Hypoglycemia, Transient ... OMIM:229600
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Clubbing of toes, Gastroesophageal reflux, Abnormal large intestine ... ORPHA:2198
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Vomiting, Diarrhea, Glycosuria, Hypernatriuria, Low-molecular-we... ORPHA:47159
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Infantile Nephropathic Cystinosis
Aminoaciduria, Vomiting, Glycosuria, Low-molecular-weight proteinuria, Abnormality of thyroid phy... ORPHA:411629
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity ORPHA:71529
Myasthenia Gravis
Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnormal thymu... ORPHA:589
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Glucose intoleran... OMIM:617253
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, C... OMIM:620211
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Diarrhea, Vomiting, Proximal tubulopathy, Villous atrophy, Renal cyst... OMIM:602579
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia, Nephrolithiasis OMIM:222730
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Hereditary Coproporphyria
Nephropathy, Dark urine, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic... ORPHA:79273
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Renal steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Nausea, Chronic diarrhea, Decreased small ... ORPHA:103907
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... OMIM:615237
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Protein-losing enteropathy, Vomiting, Villous atrophy OMIM:615863
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Lacticaciduria OMIM:619063
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Glycosuria, Exocrine pancreatic insu... OMIM:219800
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Hypothyroidism, Hype... ORPHA:79319
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Glycosuria, Hyperg... ORPHA:99885
Solitary Fibrous Tumor
Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Constipation, Hyp... ORPHA:2126
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Crypt hyperplasia OMIM:613217
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Broad femoral neck... OMIM:156500
Secondary Short Bowel Syndrome
Diarrhea, Central hypothyroidism, Volvulus, Vomiting, Villous atrophy, Abnormal small intestine m... ORPHA:95427
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Pyloric stenosis ORPHA:664
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Vomiting, Decreased glomerular filtration rate, Uric... ORPHA:94088
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Protracted diarrhea OMIM:251850
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hypoglycemia OMIM:615158
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Hyperglycemia, Jej... OMIM:615710
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, ... OMIM:262190
Blue Diaper Syndrome
Nephrocalcinosis, Diarrhea, Increased proinsulin:insulin ratio, Elevated circulating thyroid-stim... ORPHA:94086
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption, Chronic diarrhea OMIM:613291
Alg1-Cdg
Protein-losing enteropathy, Renal insufficiency, Abnormality of the gastrointestinal tract, Abnor... ORPHA:79327
Tenorio Syndrome
Gastroesophageal reflux, Hypoglycemia, Recurrent aphthous stomatitis, Hypoinsulinemia, Macrogloss... OMIM:616260
Porphyria, Acute Intermittent
Vomiting, Diarrhea, Urinary retention, Elevated urinary delta-aminolevulinic acid, Paralytic ileu... OMIM:176000
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Autoimmune Polyendocrinopathy Type 2
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... ORPHA:3143
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Exocrine pancreatic insufficiency, Glucose intolerance, Glycosuria, Renal tubular dysfunction OMIM:616539
Wilson Disease
Aminoaciduria, Vomiting, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Nephrolithiasi... OMIM:277900
Pearson Syndrome
Glycosuria, Decreased response to growth hormone stimulation test, Exocrine pancreatic insufficie... ORPHA:699
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Christian Syndrome
Short stature, Anal atresia, Glucose intolerance, Short middle phalanx of finger OMIM:309620
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Propionic Acidemia
Constipation, Organic aciduria, Hypoglycemia ORPHA:35
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Glycosuria, Intestinal malrotation, Hyperglycemia, Ureteral duplic... OMIM:600001
Weismann-Netter Syndrome
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip b... ORPHA:3344
Diarrhea 12, With Microvillus Atrophy
Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PAS-positive secretory granules, Micro... OMIM:619445
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Urinary retention, Megacystis, Gas... OMIM:155310
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Disproportionate short-limb short stature, Short femoral neck, Flared metaphysis, Short palm, Apl... ORPHA:2502
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Glycosuria, Esophageal spasms, Renal insufficiency, ... ORPHA:447
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Polyphagia OMIM:617885
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Metaphyseal irregularity, Rickets, Failure to thrive, Bulging ep... OMIM:600081
Porphyria Variegata
Chronic kidney disease, Ileus, Increased urinary porphobilinogen, Elevated urinary delta-aminolev... ORPHA:79473
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... OMIM:614736
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol conc... OMIM:201910
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Decreased circulating parathyroid hormone level, Metaphyseal irr... OMIM:241530
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Uric a... ORPHA:411536
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hamar... ORPHA:251992
Mungan Syndrome
Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, ... OMIM:611376
Combined Oxidative Phosphorylation Deficiency 34
Vomiting, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Primary a... OMIM:617872
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Metaphyseal irregularity, Rickets... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Metaphyseal irregularity, Rickets... OMIM:277440
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypoglycem... OMIM:276700
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Microvillus Inclusion Disease
Nephrocalcinosis, Diarrhea, Villous atrophy, Abnormal small intestinal villus morphology, Abnorma... ORPHA:2290
Small Bowel Atresia
Intestinal malrotation, Vomiting, Intestinal hypoplasia, Jejunal atresia ORPHA:1201
Alg6-Cdg
Increased circulating androgen concentration, Protein-losing enteropathy, Macroglossia, Puberty a... ORPHA:79320
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Atypical Werner Syndrome
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:79474
Alpha-Heavy Chain Disease
Abnormal small intestine morphology ORPHA:100025
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Increased... OMIM:131100
Cog8-Cdg
Protein-losing enteropathy, Hypoglycemia ORPHA:95428
Estrogen Resistance
Osteopenia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulati... OMIM:615363
Vascular Hyalinosis
Protein-losing enteropathy, Diarrhea, Hematochezia OMIM:277175
Acute Intermittent Porphyria
Diarrhea, Urinary retention, Pseudobulbar paralysis, Ileus, Dark urine, Increased urinary porphob... ORPHA:79276
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Renal insufficiency, Hyperuricosuria, Macroscopic hematuria, Ur... ORPHA:79233
Macrocephaly-Intellectual Disability-Autism Syndrome
Penile freckling, Thyroid carcinoma, Intestinal polyposis, Lymphoid nodular hyperplasia, Hurthle ... ORPHA:210548
Systemic Sclerosis
Chronic kidney disease, Barrett esophagus, Intestinal bleeding, Abnormal large intestine morpholo... ORPHA:90291
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnor... ORPHA:92050
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cor... OMIM:607398
Scorpion Envenomation
Acute kidney injury, Vomiting, Diarrhea, Glycosuria, Ketonuria, Hyperglycemia ORPHA:466677
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Disproportionate short-trunk short stature, Broad phalanx, Flat acetabular roof... OMIM:300106
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Vomiting, Diarrhea, Elevated urinary 3-hydroxybutyric acid, Hypoglycemia, Dicarboxylic aciduria, ... OMIM:605911
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Vomiting, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic... OMIM:243180
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Renal agenesis,... ORPHA:139466
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300554
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypoglycemia, Hypogonad... OMIM:617575
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Diarrhea OMIM:246700
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Abnormality of the gastrointestinal... ORPHA:2070
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Rectal prolapse, Chronic constipation, Intermittent ... ORPHA:209964
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Flat acetabu... OMIM:250220
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Duodenal stenosis, Abnormality of the upper urinary tract, Hypoplasia of penis, Abno... ORPHA:2547
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Renal magnesium wasting, Sterile pyuria... OMIM:248250
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Diarrhea, Vomiting, Decreased circulating T4 concentration, Hypothyro... OMIM:608104
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Eleva... ORPHA:289157
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Diarrhea, Hematochezia ORPHA:103910
Molybdenum Cofactor Deficiency, Type A
Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Decreas... OMIM:252150
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Nephrolithiasis OMIM:300323
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of... ORPHA:785
Hypoadrenocorticism, Familial
Adrenal insufficiency, Vomiting, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Trigonocephaly 1
High, narrow palate, Long penis, Meckel diverticulum OMIM:190440
Scedosporiosis
Abnormal jejunum morphology, Diabetes mellitus, Abnormal renal morphology ORPHA:449280
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Renal juxtaglomerular cell hypertrophy/hyperplasia, Diarrhea, Vomiting, Hype... OMIM:601678
Oculoskeletodental Syndrome
Protein-losing enteropathy, Renal agenesis, Mucopolysacchariduria, Hypothyroidism, Hypercalciuria... OMIM:618440
Zollinger-Ellison Syndrome
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:913
Pancreatic Colipase Deficiency
Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea ORPHA:309108
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Villous atrophy, Hypothyroidism, Delayed puberty, Diabetes ... OMIM:614162
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Vomiting, Hypoglycemia, Medium chain dicarboxylic aciduria, Elevated urinary 7-h... OMIM:201450
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Crystalluria ORPHA:411543
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Vomiting, Nephrocalcinosis, Hyperaldosteronism, Stag... ORPHA:89938
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Elevated circulating thyroid-stimul... OMIM:618183
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Villous atrophy, Ileus, Hypothyroidism, Glomerulonephritis, Chronic dia... OMIM:304790
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... OMIM:175500
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Bloody diarrhea OMIM:614328
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab... OMIM:616113
Lesch-Nyhan Syndrome
Nephrocalcinosis, Vomiting, Nephrolithiasis, Hyperuricosuria, Testicular atrophy, Dysphagia OMIM:300322
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Colonic diverticula, Elevated circulating calcitonin concentration, Diarrhea... OMIM:162300
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Patellar hypoplasia, Abnormal ulnar metaphysis m... ORPHA:221008
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Colonic diverticula, Renal insufficiency OMIM:173900
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Hypothyroidism, Delayed puberty, Adrenal hypoplasia, H... ORPHA:95496
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Renal agenesis, Intestinal malrotation, Horseshoe k... OMIM:115470
Martinez-Frias Syndrome
Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Hyposp... OMIM:601346
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Nephrolit... OMIM:232200
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Vomiting, Diarrhea, Hyperchloriduria, Nephroc... OMIM:241200
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Diarrhea, Vomiting, Anuria, Bloody diarrhea, Rectal prolapse, Peritonitis, H... ORPHA:90038
Radiation Proctitis
Hematochezia, Diarrhea, Abnormal rectum morphology, Intestinal obstruction, Constipation, Rectal ... ORPHA:70475
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Increased bone mineral densi... ORPHA:289176
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Hypoglycemia, Decreased ... OMIM:232240
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr... OMIM:615751
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Triangular shaped distal phalanges of the hand, Broad metacarpals, Disproportionate short-limb sh... OMIM:271665
Refractory Celiac Disease
Protein-losing enteropathy, Villous atrophy, Chronic diarrhea, Jejunitis ORPHA:398063
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Reduced bone mineral density, Abnormal metaphysis morphology, Long fibula ORPHA:935
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Patellar hypoplasia, Abnormal ulnar metaphysis m... ORPHA:221016
Addison Disease
Thymoma, Type I diabetes mellitus, Diarrhea, Renal salt wasting, Androgen insufficiency, Hypoglyc... ORPHA:85138
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Colitis, Chronic diarrhea, Bloody diarrhea OMIM:614602
Molybdenum Cofactor Deficiency, Type B
Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Xanthin... OMIM:252160
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Secretory diarrhea, Enterocolitis, Episodic vomiting OMIM:616050
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Type I diabetes mellitus, Villous atroph... OMIM:614700
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Intestinal lymphangiectasia, Horseshoe kidney, Vesicoureteral reflux,... OMIM:235510
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Hypoglycemia, Decreased ... OMIM:232220
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hyperaldosteronism, Hypercalciuria, Hypermag... ORPHA:73224
Spondylometaphyseal Dysplasia, Sedaghatian Type
Disproportionate short stature, Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest ser... ORPHA:93317
Fg Syndrome Type 1
Small pituitary gland, Abnormal large intestine morphology, Gastroesophageal reflux, Anal atresia... ORPHA:93932
Osteootohepatoenteric Syndrome
Secretory diarrhea, Increased intestinal transit time, Villous atrophy, Grade II vesicoureteral r... OMIM:619377
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Unusual gastrointestinal infection ORPHA:760
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Carpal bone hypoplas... OMIM:610442
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Hypoglycemia, Thyroid carcinoma, Intestinal polyposis, Hashi... ORPHA:109
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Type I diabetes mellitus, Vomiting, Exocrine pancreatic insufficiency,... OMIM:557000
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Thyroid lymphangiectasia, Hydronephrosis, Micropenis, High palate, Cl... OMIM:235255
Combined Immunodeficiency-Enteropathy Spectrum
Type I diabetes mellitus, Jejunoileal ulceration, Intestinal malrotation, Hashimoto thyroiditis, ... ORPHA:436252
Zygomycosis
Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nephritis, Rena... ORPHA:73263
Perlman Syndrome
Distal ileal atresia, Volvulus, Hypoglycemia, Nephrogenic rest, Nephroblastomatosis, Renal hamart... OMIM:267000
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Villous atrophy, Hypothyroidism, Chronic diarrhea, Thyroiditis OMIM:606367
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Type I diabetes mellitus, Diarrhea, Functional abnormality of the bladder, Villous atrophy, Renal... ORPHA:391487
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Renal cyst, Dark urine, Fat malabsorption ORPHA:79303
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Diarrhea, Neurogenic bladder, Diabetes insipidus, Fat malabsorption ORPHA:96180
Mhc Class Ii Deficiency 1
Colitis, Recurrent urinary tract infections, Villous atrophy, Protracted diarrhea OMIM:209920
Congenital Alveolar Capillary Dysplasia
Volvulus, Duodenal stenosis, Intestinal malrotation, Hydronephrosis, Aganglionic megacolon, Trach... ORPHA:210122
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Urinary incontinence, Neoplasm of the ... ORPHA:512
Purine Nucleoside Phosphorylase Deficiency
Elevated urinary inosine level, Decreased urinary urate, Elevated urinary guanosine level, Recurr... OMIM:613179
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level, Secretory diarrhea OMIM:167100
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Diarrhea, Fat malabsorption, Acholic stools OMIM:607765
Congenital Disorder Of Glycosylation, Type Ia
Diarrhea, Vomiting, Proximal tubulopathy, Villous atrophy, Proteinuria, Renal cyst, Hypothyroidis... OMIM:212065
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Acute kidney injury, Oliguria, Recurrent... ORPHA:731
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Short thumb, R... ORPHA:2909
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, High palate, Hypos... OMIM:300661
Juvenile Polyposis Syndrome
Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Diarrhea, Colon... ORPHA:2929
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux, Duodenal stenosis ORPHA:2470
Chylomicron Retention Disease
Steatorrhea, Diarrhea, Vomiting, Fat malabsorption ORPHA:71
Dextrocardia
Intestinal malrotation, Abnormality of the ureter, Meckel diverticulum, Abnormal renal morphology ORPHA:1666
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Functional abnormality of the bladder, Horseshoe kidney, Nephrolithia... ORPHA:2953
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hydronephrosis, Abnormal renal morphology, Micropenis, High palate ORPHA:1655
Mosaic Trisomy 16
Meckel diverticulum, Anteriorly placed anus, Horseshoe kidney, Abnormality of the gastrointestina... ORPHA:1708
Tarp Syndrome
Meckel diverticulum, Horseshoe kidney, Hydronephrosis, High palate, Glossoptosis, Tongue nodules,... OMIM:311900
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Meckel diverticulum, Abnormal gastrointestinal tract morphology ORPHA:2847
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma... ORPHA:90362
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormality of the ureter, A... ORPHA:141127
Immunodeficiency 85 And Autoimmunity
Vomiting, Villous atrophy, Chronic diarrhea OMIM:619510
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea, Fat malabsorption OMIM:211600
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Pyloric stenosis OMIM:616395
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... ORPHA:90695
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Meckel diverticulum, Dilatation of the renal pelvis, Hydrou... OMIM:265380
Fanconi Anemia
Abnormal localization of kidney, Abnormality of the urinary system, Meckel diverticulum, Hydroure... ORPHA:84
Isolated Biliary Atresia
Hypopituitarism, Hypothyroidism, Dark yellow urine, Acholic stools, Fat malabsorption ORPHA:30391
Autosomal Recessive Cutis Laxa Type 1
Multiple bladder diverticula, Urethral diverticulum, Small bowel diverticula, Recurrent urinary t... ORPHA:90349
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Abnormal duodenum morphology, Glossoptosis, Tongue nodules, Cle... ORPHA:2886
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption OMIM:214950
Fryns Syndrome
Meckel diverticulum, Renal agenesis, Intestinal malrotation, Hydronephrosis, Aganglionic megacolo... OMIM:229850
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Hydronephrosis, Constipation, Abnormal duodenum morphology... OMIM:601776
Meier-Gorlin Syndrome 7
Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Vesicoureteral reflux, Urethral strictu... OMIM:617063
Syndromic Diarrhea
Intractable diarrhea, Renal hypoplasia, Villous atrophy, Hypoplasia of the thymus, Hepatoblastoma... ORPHA:84064
Fraser Syndrome 1
Renal hypoplasia, Abnormal small intestine morphology, Renal hypoplasia/aplasia, Abnormality of t... OMIM:219000
Liver Disease, Severe Congenital
Aminoaciduria, Protein-losing enteropathy, Diarrhea, Vomiting, Recurrent urinary tract infections... OMIM:619991
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis, Growth delay OMIM:612301
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Nephrocalcinosis, Hydronephrosis, Constipation, Micropen... ORPHA:264450
Thrombocytopenia-Absent Radius Syndrome
Dilatation of the renal pelvis, Meckel diverticulum, Horseshoe kidney, Vesicoureteral reflux, Axi... OMIM:274000
Genitopatellar Syndrome
Malrotation of small bowel, Anal stenosis, Multicystic kidney dysplasia, Anteriorly placed anus, ... OMIM:606170
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Vomiting, Small bowel diverticula, Pyelonephritis, Bladder diverticulum ORPHA:90348
Viss Syndrome
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Broad uvula, Celiac disease, Intestina... OMIM:619472
Immunodeficiency 82 With Systemic Inflammation
Intractable diarrhea, Diarrhea, Anoperineal fistula, Vomiting, Villous atrophy, Crohn's disease, ... OMIM:619381
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Exaggerated median tongue furrow, Meckel diverticulum, Duplication of renal pelvis... OMIM:312870
Plague
Inflammation of the large intestine, Diarrhea, Vomiting, Ileitis, Enterocolitis, Hematemesis, Glo... ORPHA:707
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Renal insufficiency, Nephrolithiasis, Osmotic diarrhea, Hematuria ORPHA:35710
Wolf-Hirschhorn Syndrome
Precocious puberty, Malrotation of small bowel, Gastroesophageal reflux, Hypospadias, Cleft palate OMIM:194190

Histopathology

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

There is no histopathology data for 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

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