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Gene: Slc23a1 MGI:1341903

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 23 (nucleobase transporters), member 1

Synonyms:

Slc23a2, YSPL3, SVCT1, D18Ucla2

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 Slc23a1 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.

Human diseases associated with Slc23a1 (0 diseases)
Human diseases predicted to be associated with Slc23a1 (413 diseases)

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

The table below shows human diseases predicted to be associated to Slc23a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Glycine Encephalopathy 1	Death in infancy, Hyperactivity, Restlessness, Impulsivity, Aggressive behavior, Hyperglycinuria,...	OMIM:605899
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Saccharopinuria	Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria	OMIM:268700
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnormal repe...	OMIM:239500
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239510
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
5-Oxoprolinase Deficiency	Calcium oxalate nephrolithiasis, Diarrhea, Enterocolitis, Increased level of L-pyroglutamic acid ...	OMIM:260005
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	ORPHA:42062
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Hydroxykynureninuria	Aminoaciduria, Vomiting	OMIM:236800
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria, Attention deficit hyperactivity disorder	OMIM:204750
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Vomiting, Uric acid urolithia...	ORPHA:94088
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Diarrhea, Vomiting, Generalized aminoaciduria	OMIM:606528
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Lethargy, Hyperlysinuria	OMIM:238750
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Renal insufficiency, Anorexia, Lacticaciduria, Aminoaciduria, Lethargy	OMIM:619386
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Threoninemia	Hyperthreoninuria	OMIM:273770
Hypertryptophanemia	Depression, Hypersexuality, Aggressive behavior, Tryptophanuria	OMIM:600627
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Carnosinemia	Carnosinuria	OMIM:212200
Galactosemia Iii	Aminoaciduria, Galactosuria, Vomiting	OMIM:230350
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Valinemia	Valinuria, Vomiting	OMIM:277100
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Phenylketonuria	Aminoaciduria	ORPHA:716
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria	OMIM:234500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati...	OMIM:162000
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Lethargy, Uraciluria	OMIM:274270
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinuria	OMIM:238700
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Hyper-Beta-Alaninemia	Increased urinary taurine	OMIM:237400
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Vomiting, Lethargy, Medullary nephro...	OMIM:143880
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Vomiting	ORPHA:622
Central Diabetes Insipidus	Anorexia, Diarrhea, Depression, Lethargy, Polydipsia, Nocturia	ORPHA:178029
Homocarnosinosis	Carnosinuria	OMIM:236130
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria	ORPHA:2278
Glutaric Acidemia Type 3	Glutaric aciduria, Impulsivity, Ketonuria, Lethargy	ORPHA:35706
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level	OMIM:229100
Lethal Infantile Mitochondrial Myopathy	Lethargy, Renal insufficiency	ORPHA:254857
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy, Episodic vomiting, Death in childhood	OMIM:618224
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Anorexia	ORPHA:79283
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Lcat Deficiency	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ...	ORPHA:650
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Stimmler Syndrome	Aminoaciduria	ORPHA:3199
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria	OMIM:236250
Gracile Syndrome	Aminoaciduria	OMIM:603358
Short Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine	ORPHA:26792
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy, Vomiting, Diarrhea	OMIM:612075
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Renal insufficiency, Intestinal obstruction, Proteinuria, Renal inte...	ORPHA:85450
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Hereditary Central Diabetes Insipidus	Lethargy, Polydipsia, Vomiting, Diarrhea	ORPHA:30925
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Death in infancy, Increased urinary sulfite level, Agitation, Decreased urinary...	OMIM:272300
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephroc...	ORPHA:18
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Death in childhood	OMIM:618683
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria	OMIM:615158
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Galactose Epimerase Deficiency	Aminoaciduria	ORPHA:79238
Methionine Malabsorption Syndrome	Aminoaciduria, Diarrhea	OMIM:250900
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Riboflavin Deficiency	Lethargy, Dicarboxylic aciduria	OMIM:615026
Cerebral Creatine Deficiency Syndrome 3	Organic aciduria	OMIM:612718
Early Myoclonic Encephalopathy	Lethargy, Dysphagia	ORPHA:1935
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Increased level of gamma-aminobutyric acid...	OMIM:271980
Severe Canavan Disease	Lethargy, Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia	ORPHA:314911
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Aggressive behavior, Diar...	ORPHA:79101
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine	OMIM:231900
Cystathioninuria	Cystathioninuria, Nephrolithiasis	ORPHA:212
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Death in infancy, Lacticaciduria, Hyperglycinu...	OMIM:605711
Hypotonia-Cystinuria Syndrome	Polyphagia, Nephrolithiasis, Cystinuria	ORPHA:163690
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria	ORPHA:147
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Aggressive behavior, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic...	ORPHA:488627
Tyrosinemia Type 1	Generalized aminoaciduria	ORPHA:882
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile, Dysphagia	ORPHA:391417
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, 2-ethylhydracylic aciduria	OMIM:610006
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Death in childhood	OMIM:609560
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Vomiting, Nephropathy...	ORPHA:213
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Galactosemia I	Diarrhea, Albuminuria, Aminoaciduria, Galactosuria, Vomiting, Increased level of galactitol in urine	OMIM:230400
Isovaleric Acidemia	Lethargy, Vomiting, Hyperglycinuria	OMIM:243500
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria, Vomiting	OMIM:201450
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Vitamin B12-Responsive Methylmalonic Acidemia	Lethargy, Renal insufficiency	ORPHA:28
N-Acetylglutamate Synthase Deficiency	Lethargy, Vomiting, Aggressive behavior	OMIM:237310
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil...	OMIM:614922
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
Lipoyltransferase 1 Deficiency	Alaninuria, Death in infancy, Hyperglutaminuria, Lacticaciduria	OMIM:616299
Orthostatic Hypotension 2	Decreased glomerular filtration rate	OMIM:618182
Primary Hyperoxaluria Type 1	Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn...	ORPHA:93598
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Death in childhood	OMIM:604273
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Ketonuria, Vomiting, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaleric aciduria...	OMIM:210200
Gaba-Transaminase Deficiency	Lethargy, Death in childhood	OMIM:613163
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Aminoaciduria	OMIM:250620
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy, Homocystinuria, Methylmalonic aciduria	OMIM:236270
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Cyclic Vomiting Syndrome	Anorexia, Vomiting, Attention deficit hyperactivity disorder, Lethargy, Nausea	OMIM:500007
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Dihydropyrimidinase Deficiency	Lethargy, Uraciluria	OMIM:222748
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Vomitin...	OMIM:231680
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Decreased glomerular filtration rate	OMIM:601198
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Anorexia, Nephrocalcinosis, Distal renal tubular acidosis, Lethargy	OMIM:611590
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Muscular Dystrophy, Cardiac Type	Carnosinuria	OMIM:309930
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Glutathionuria	Constipation, Urinary incontinence, Glutathionuria	OMIM:231950
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuri...	OMIM:613404
Methylmalonic Acidemia With Homocystinuria	Lethargy	ORPHA:26
Saccharopinuria	Citrullinuria, Hyperlysinuria, Cystinuria	ORPHA:3124
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Argininemia	Diaminoaciduria	ORPHA:90
Idiopathic Intracranial Hypertension	Lethargy, Vomiting, Nausea, Depression	ORPHA:238624
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine	OMIM:266130
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Ketonuria, Glycosuria	ORPHA:2089
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Lethargy	OMIM:610498
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,...	OMIM:613090
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Neonatal death, Death in infancy, Organic aciduria	OMIM:617184
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Death in infancy, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myoglobinuri...	OMIM:201475
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Vomiting, Death in childhood	OMIM:618225
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Episodic vomiting, Lacticaciduria, Elevated ur...	OMIM:615751
Developmental And Epileptic Encephalopathy 40	Lethargy	OMIM:617065
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Lethargy, Vomiting	ORPHA:2394
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Ornithine Transcarbamylase Deficiency	Aminoaciduria	ORPHA:664
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, 3-Methylglutaconic aciduria	OMIM:618120
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Lethargy, Renal insufficiency, Anorexia	ORPHA:79312
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Diarrhea, Steatorrhea, Tubulointersti...	ORPHA:470
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal tubular dysfunction, Lethargy, Renal insufficiency	ORPHA:289916
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lethargy, Episodic vomiting, Vomiting, Dysphagia	OMIM:618226
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Diarrhea, Vomiting, Lethargy	ORPHA:42
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Homocystinuria, Methylmalonic aciduria	OMIM:309541
Maple Syrup Urine Disease	Lethargy, Increased level of hippuric acid in urine, Vomiting	OMIM:248600
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy, Episodic vomiting, Homocitrullinuria	OMIM:238970
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Diarrhea, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephroli...	ORPHA:47159
Holocarboxylase Synthetase Deficiency	Organic aciduria, Vomiting, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaleric a...	OMIM:253270
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Diarrhea, Renal Fanconi syndrome, Agitation, Vomiting, Glycosuria, Lethargy	ORPHA:263455
Holocarboxylase Synthetase Deficiency	Lethargy, Organic aciduria, Anorexia	ORPHA:79242
Carnitine Palmitoyltransferase I Deficiency	Renal tubular acidosis, Diarrhea, Dicarboxylic aciduria, Lethargy	OMIM:255120
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lethargy, Dysphagia	OMIM:613561
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Nausea, Hematemesis, Diarrhea, Chronic kidney disease, E...	ORPHA:340
Thyroid Dyshormonogenesis 1	Lethargy, Constipation	OMIM:274400
Sarcosinemia	Hypersarcosinuria	ORPHA:3129
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Death in childhood	OMIM:246900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephritis, Vomiting, L...	OMIM:251000
Leber Congenital Amaurosis 1	Hyperthreoninuria, Eye poking	OMIM:204000
Familial Expansile Osteolysis	Hydroxyprolinuria	OMIM:174810
Propionic Acidemia	Increased level of hippuric acid in urine, Hyperglycinuria, Constipation, Vomiting, Lethargy	OMIM:606054
Carnitine Deficiency, Systemic Primary	Lethargy, Diarrhea, Dicarboxylic aciduria, Vomiting	OMIM:212140
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Methylmalonic aciduria	ORPHA:1933
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Diarrhea, Anorexia	ORPHA:49827
Pontocerebellar Hypoplasia, Type 6	Lethargy, Gastroesophageal reflux, Death in childhood	OMIM:611523
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Vomiting	OMIM:618228
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Ketonuria, Hyperglycinuria, Organic aciduria, Vomiting, Lethargy	OMIM:210210
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Lethargy, Homocystinuria, Methylmalonic aciduria, Gastroesophageal reflux	OMIM:614857
Hyperparathyroidism, Neonatal Severe	Hyperphosphaturia, Polyuria, Hypercalciuria, Aminoaciduria, Constipation, Polydipsia	OMIM:239200
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Gastroesophageal reflux	OMIM:249270
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy	OMIM:618232
Dermotrichic Syndrome	Aminoaciduria	ORPHA:99688
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy, Constipation	ORPHA:101150
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Death in childhood, Aminoaciduria, Ren...	OMIM:220110
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy,...	OMIM:208085
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria	OMIM:235830
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Diarrhea, Agitation, Vomiting, Lethargy, Abnormal repetitive mannerisms, Nausea	ORPHA:927
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria	ORPHA:163693
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria	ORPHA:2158
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Meningococcal Meningitis	Lethargy, Renal insufficiency, Projectile vomiting, Anorexia	ORPHA:33475
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Death in infancy, Lethargy, Death in childhood	OMIM:619064
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Agitation	ORPHA:276608
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy, Dysphagia	OMIM:233910
Hyperinsulinism Due To Ucp2 Deficiency	Lethargy, Agitation, Polyphagia	ORPHA:276556
Glycogen Storage Disease Ia	Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration...	OMIM:232200
Hypotonia-Cystinuria Syndrome	Polyphagia, Cystine crystalluria, Nephrolithiasis, Cystinuria	OMIM:606407
Autism, Susceptibility To, 3	Restrictive behavior, Ketonuria, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Methylmalonic Aciduria, Cbla Type	Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Vomiting, Elevat...	OMIM:251100
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level	OMIM:605850
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac...	ORPHA:812
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Lethargy, Agitation, Polyphagia	ORPHA:276575
Citrullinemia Type Ii	Restlessness, Hyperactivity, Aggressive behavior, Abnormal eating behavior, Diarrhea, Enuresis, V...	ORPHA:247585
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Beta-alaninuria, Elevated urinary aminoisobutyric acid, M...	OMIM:614105
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Lethargy, Agitation, Polyphagia	ORPHA:276580
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Hyperinsulinism Due To Hnf1A Deficiency	Lethargy, Agitation, Polyphagia	ORPHA:324575
Myasthenic Syndrome, Congenital, 22	Cystinuria	OMIM:616224
Vitamin B12-Unresponsive Methylmalonic Acidemia	Lethargy, Renal insufficiency	ORPHA:27
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric aciduria, Organic ...	OMIM:246450
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy, Vomiting	OMIM:600649
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Gastroesophageal reflux, Methylmalonic aciduria	OMIM:612073
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal...	OMIM:229600
Methylmalonic Aciduria, Cblb Type	Lethargy, Ketonuria, Vomiting, Methylmalonic aciduria	OMIM:251110
Argininemia	Hyperactivity, Anorexia, Diaminoaciduria, Vomiting, Oroticaciduria, Episodic vomiting	OMIM:207800
Familial Hypoaldosteronism	Decreased urinary potassium, Renal salt wasting, Diarrhea, Proximal renal tubular acidosis, Lethargy	ORPHA:427
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Vomiting	OMIM:245050
Infantile Liver Failure Syndrome 2	Lethargy, Vomiting	OMIM:616483
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri...	OMIM:252150
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria	OMIM:619003
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Renal insufficiency, Death in infancy, Long-chain dicarboxylic aciduria, Di...	OMIM:608836
Classic Galactosemia	Diarrhea, Depression, Vomiting, Attention deficit hyperactivity disorder, Lethargy	ORPHA:79239
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Lethargy	OMIM:617105
Carnitine Palmitoyl Transferase 1A Deficiency	Renal tubular acidosis, Lethargy	ORPHA:156
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy, Homocystinuria, Methylmalonic aciduria	OMIM:277410
Isolated Atp Synthase Deficiency	Lethargy, 3-Methylglutaconic aciduria, Renal hypoplasia	ORPHA:254913
D-Glyceric Aciduria	Aminoaciduria, Tongue thrusting, Gastroesophageal reflux, Micropenis	OMIM:220120
Glycogen Storage Disease Ib	Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Inflammation of the large intes...	OMIM:232220
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular aci...	ORPHA:2088
Argininosuccinic Aciduria	Lethargy, Aminoaciduria, Oroticaciduria, Vomiting	OMIM:207900
Idiopathic Congenital Hypothyroidism	Lethargy, Constipation	ORPHA:95717
Citrullinemia Type I	Lethargy, Vomiting, Gastroesophageal reflux	ORPHA:247525
2,4-Dienoyl-Coa Reductase Deficiency	Death in infancy, Hyperlysinuria, Death in childhood	OMIM:616034
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal dysphagia, Exocrin...	OMIM:219800
Cholera	Abnormality of renal excretion, Miscarriage, Diarrhea, Vomiting, Lethargy, Acute kidney injury, D...	ORPHA:173
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria	ORPHA:23
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in infancy, Death in adolescence, Aminoaciduria, Death in childhood, Neonatal death	OMIM:619055
Gyrate Atrophy Of Choroid And Retina	Aminoaciduria	ORPHA:414
Hemochromatosis, Type 2A	Lethargy	OMIM:602390
Pearson Marrow-Pancreas Syndrome	Anorexia, Chronic diarrhea, Hypercalciuria, Steatorrhea, 3-Methylglutaric aciduria, Renal Fanconi...	OMIM:557000
Alkaptonuria	Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate	OMIM:203500
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria	OMIM:250940
Multiple Mitochondrial Dysfunctions Syndrome 3	Beta-aminoisobutyric aciduria	OMIM:615330
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Glomerulopathy, Vomiting, Lethargy	ORPHA:2169
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Typhoid	Gastrointestinal hemorrhage, Lethargy, Diarrhea, Constipation	ORPHA:99745
Hjv Or Hamp-Related Hemochromatosis	Lethargy	ORPHA:79230
Fructose-1,6-Bisphosphatase Deficiency	Lethargy, Increased urinary glycerol	OMIM:229700
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul...	OMIM:227810
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria	OMIM:273400
Hereditary Fructose Intolerance	Renal insufficiency, Diarrhea, Chronic kidney disease, Vomiting, Constipation, Lethargy, Nausea	ORPHA:469
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Inflammation of ...	OMIM:232240
Transcobalamin Ii Deficiency	Lethargy, Diarrhea, Vomiting, Methylmalonic aciduria	OMIM:275350
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine...	OMIM:252160
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy	OMIM:312170
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Death in infancy, Vomiting, Lethargy	OMIM:614299
Tubulointerstitial Nephritis And Uveitis Syndrome	Anorexia, Elevated circulating creatinine concentration, Renal neutrophilic tubulitis, Renal inte...	ORPHA:91500
Combined Oxidative Phosphorylation Deficiency 14	Death in infancy, Aminoaciduria, Death in childhood	OMIM:614946
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria	OMIM:614520
Molybdenum Cofactor Deficiency, Complementation Group C	Neonatal death, Increased urinary taurine	OMIM:615501
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninuria, Methylmalonic aciduria, Stomatitis, Lethargy, Homocystinuria	OMIM:277380
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Vomiting	OMIM:237300
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Biotinidase Deficiency	Lethargy, Diarrhea, Organic aciduria, Vomiting	OMIM:253260
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Diarrhea, Vomiting, Lethargy, Myoglobinuria	ORPHA:71212
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Diarrhea, Melena, Vomiting, Dysphagia, Lethargy, Nausea	ORPHA:319218
Leigh Syndrome	Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular dysfunction, Ren...	ORPHA:506
Citrullinemia, Classic	Lethargy, Oroticaciduria, Vomiting	OMIM:215700
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Polycystic kidney dysplasia, Death in childhood	OMIM:214110
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Anorexia, Diarrhea, 3-Methylglutaric aciduria, Apathy, Lethargy, Episodic vomiting	ORPHA:20
Scrub Typhus	Lethargy, Renal insufficiency	ORPHA:83317
Wilson Disease	Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Dysphagia, Renal tubular dysfunc...	OMIM:277900
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Dysphagia, Albuminuria, Aminoaciduria, Death in childhood, Renal cortical microcysts...	OMIM:214100
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Lethargy, Methylmalonic aciduria, Unilateral renal agenesis	ORPHA:79284
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy, Dicarboxylic aciduria	OMIM:212138
Cirrhosis, Familial	Lethargy, Increased level of L-fucose in urine	OMIM:215600
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Aggressive behavior, Diarrhea, Vomiting, Death in childhood, Lethargy, Episodic vomiting	OMIM:618321
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy, Dicarboxylic aciduria, Oliguria	ORPHA:159
Lysinuric Protein Intolerance	Diarrhea, Stage 5 chronic kidney disease, Aminoaciduria, Hyperlysinuria, Vomiting, Oroticaciduria...	OMIM:222700
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux, Renal artery stenosis...	OMIM:617913
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Death in infancy, Proteinuria, Proximal renal tubular acidos...	ORPHA:534
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Gastroesophageal reflux, Methylmalonic aciduria	OMIM:251120
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Ethylmalonic aciduria	OMIM:201470
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Lethargy, Oroticaciduria, Vomiting	OMIM:311250
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy, Death in childhood	OMIM:615838
Hartnup Disease	Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Methioninuria, Homocystinuria, Depression	OMIM:236200
Hyperlysinemia	Hyperactivity, Argininuria, Cystinuria, Decreased urine alpha-ketoglutarate concentration, Hyperl...	ORPHA:2203
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Death in infancy, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic acidur...	OMIM:617156
Familial Thyroid Dyshormonogenesis	Lethargy, Constipation	ORPHA:95716
Canavan Disease	Elevated urinary N-acetylaspartic acid level	OMIM:271900
Insulinoma	Lethargy, Polyphagia	ORPHA:97279
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy, Myoglobinuria	OMIM:609015
Necrotizing Enterocolitis	Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Lethargy	ORPHA:391673
Tryptophanuria With Dwarfism	Tryptophanuria	OMIM:276100
Bruck Syndrome 2	Hydroxyprolinuria	OMIM:609220
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Lethargy, Vomiting, Dysphagia	OMIM:607483
Dengue Fever	Gastrointestinal hemorrhage, Lethargy, Diarrhea	ORPHA:99828
Multifocal Atrial Tachycardia	Lethargy	ORPHA:3282
Evans Syndrome	Lethargy	ORPHA:1959
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Death in infancy, Lethargy	OMIM:604377
Magel2-Related Prader-Willi-Like Syndrome	Impulsivity, Xerostomia, Chronic constipation, Gastroesophageal reflux, Abnormal temper tantrums,...	ORPHA:398069
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Dysphagia, Hemoglobinu...	ORPHA:447
Fumarase Deficiency	Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Elevated...	OMIM:606812
Pseudo-Torch Syndrome 2	Lethargy, Abnormal renal corticomedullary differentiation	OMIM:617397
Sim1-Related Prader-Willi-Like Syndrome	Xerostomia, Abnormal temper tantrums, Skin-picking, Lethargy, Micropenis, Polyphagia	ORPHA:398079
Pyruvate Dehydrogenase Deficiency	Lethargy	ORPHA:765
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
D-Glyceric Aciduria	Hyperglycinuria	ORPHA:941
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Aggressive behavior, Bicarbonaturia, Proximal renal tubul...	OMIM:309000
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Lacticaciduria, Depression, Tubulointerstitial nephritis, Aminoaciduria, Neonat...	OMIM:124000
Encephalitis Lethargica	Lethargy, Urinary incontinence, Bowel incontinence	ORPHA:83600
Monocarboxylate Transporter 1 Deficiency	Ketonuria	OMIM:616095
Autosomal Dominant Progressive External Ophthalmoplegia	Bipolar affective disorder, Gastroparesis, Depression, Bradykinesia, Gastroesophageal reflux, Con...	ORPHA:254892
Citrullinemia, Type Ii, Adult-Onset	Argininosuccinic aciduria	OMIM:603471
Aromatic L-Amino Acid Decarboxylase Deficiency	Diarrhea, Tongue thrusting, Constipation, Gastroesophageal reflux, Lethargy	OMIM:608643
Isolated Complex I Deficiency	Lethargy, Proximal tubulopathy, Vomiting	ORPHA:2609
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria	OMIM:264700
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Methylmalonic aciduria...	ORPHA:79282
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lethargy, Homocystinuria	ORPHA:395
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria	OMIM:616084
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Congenital Disorder Of Glycosylation, Type Ig	Lethargy, Micropenis, Hypospadias	OMIM:607143
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Death in infancy, Hypospadias, Lacticaciduria, Vomiting, Lethargy	OMIM:252010
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Vomiting, Generalized aminoaciduria	OMIM:251880
Staphylococcal Necrotizing Pneumonia	Lethargy, Addictive alcohol use	ORPHA:36238
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Hypercalciuria, Increased urine deoxypyridinoline level	OMIM:239000
Interstitial Lung And Liver Disease	Aminoaciduria, Vomiting	OMIM:615486
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Glycosuria	OMIM:618857
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Death in infan...	OMIM:619355
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy, Oroticaciduria, Episodic vomiting	ORPHA:415
Beta-Ketothiolase Deficiency	Ketonuria, Anorexia, Diarrhea, Apathy, Agitation, Vomiting, Oral aversion	ORPHA:134
Biotinidase Deficiency	Lethargy, Organic aciduria	ORPHA:79241
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Hypospadias, Renal cyst, Death in adolescence, Polycystic kidney dysplasia, Let...	OMIM:614866
Glycerol Kinase Deficiency	Lethargy, Increased urinary glycerol, Episodic vomiting	OMIM:307030
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria	OMIM:620089
Kufor-Rakeb Syndrome	Urinary incontinence, Bowel incontinence, Bradykinesia, Apathy, Dysphagia, Lethargy	ORPHA:306674
Ogden Syndrome	Lethargy	ORPHA:276432
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Lethargy, Diarrhea	OMIM:201100
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria	OMIM:602080
Genetic Transient Congenital Hypothyroidism	Lethargy, Constipation	ORPHA:226316
Trichinellosis	Lethargy, Apathy, Nausea, Dysphagia	ORPHA:863
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Lethargy, Chronic diarrhea, Vomiting, Gastroesophageal reflux	OMIM:620233
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Neonatal death, Ketonuria, Lacticaciduria	OMIM:619167
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy, Glandular hypospadias	OMIM:620306
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Depression	ORPHA:99832
Symptomatic Form Of Hfe-Related Hemochromatosis	Lethargy, Apathy	ORPHA:465508
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Vomiting	ORPHA:26793
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria	ORPHA:289157
Late-Onset Isolated Acth Deficiency	Lethargy, Diarrhea, Constipation, Anorexia	ORPHA:199299
Developmental And Epileptic Encephalopathy 50	Diarrhea, Death in childhood, Renal tubular acidosis, Dysphagia, Oroticaciduria	OMIM:616457
Alkaptonuria	Aminoaciduria, Nephrolithiasis	ORPHA:56
Amoebiasis Due To Free-Living Amoebae	Restlessness, Intrarenal abscess, Vomiting, Lethargy, Nausea	ORPHA:68
Isolated Thyroid-Stimulating Hormone Deficiency	Lethargy, Constipation, Attention deficit hyperactivity disorder, Depression	ORPHA:90674
Multiple Endocrine Neoplasia Type 1	Anorexia, Hematemesis, Diarrhea, Hypercalciuria, Nephrolithiasis, Depression, Melena, Vomiting, G...	ORPHA:652
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Impaired oropharyngeal swallow response, Chronic constipation, Impaired oral bolus formation, Gen...	ORPHA:404454
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Constipation	ORPHA:90673
Marburg Hemorrhagic Fever	Renal insufficiency, Anorexia, Aggressive behavior, Diarrhea, Elevated circulating creatinine con...	ORPHA:99826
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Organic aciduria, Galactosuria	ORPHA:85276
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria	OMIM:609242
Exercise-Induced Malignant Hyperthermia	Oliguria, Vomiting, Lethargy, Acute kidney injury, Nausea	ORPHA:466650
Richards-Rundle Syndrome	Ketonuria	ORPHA:1399
Mitochondrial Trifunctional Protein Deficiency	Lethargy	ORPHA:746
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Renal hypoplasia	OMIM:619053
Histiocytoid Cardiomyopathy	Lethargy, Vomiting, Renal cyst	ORPHA:137675
Semilobar Holoprosencephaly	Depression, Apathy, Vomiting, Attention deficit hyperactivity disorder, Dysphagia, Gastroesophage...	ORPHA:220386
Alobar Holoprosencephaly	Depression, Apathy, Vomiting, Attention deficit hyperactivity disorder, Dysphagia, Gastroesophage...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depression, Apathy, Vomiting, Attention deficit hyperactivity disorder, Dysphagia, Gastroesophage...	ORPHA:93926
Lobar Holoprosencephaly	Depression, Apathy, Vomiting, Attention deficit hyperactivity disorder, Dysphagia, Gastroesophage...	ORPHA:93924
Xeroderma Pigmentosum	Aminoaciduria	ORPHA:910
Liver Disease, Severe Congenital	Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Diarrhea, Peritonitis, Aminoa...	OMIM:619991
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria, Vomiting	OMIM:615453
Medulloblastoma	Lethargy	ORPHA:616
Orotic Aciduria	Hematuria, Oroticaciduria, Orotic acid crystalluria	OMIM:258900
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Renal steatosis	OMIM:261680
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria	OMIM:251900
Glutaric Acidemia I	Glutaric aciduria, Ketonuria	OMIM:231670
Complete Atrioventricular Septal Defect	Lethargy	ORPHA:1329
Glycine Encephalopathy	Lethargy	ORPHA:407
Diamond-Blackfan Anemia	Lethargy, Renal agenesis, Hypospadias, Horseshoe kidney	ORPHA:124
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Ketonuria, Oral-pharyngeal dysphagia	OMIM:616878
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Constipation	OMIM:218700
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria	ORPHA:79644
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Lethargy, Constipation	ORPHA:226307
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ketonuria, Dysphagia	ORPHA:480864
Hydranencephaly	Lethargy	ORPHA:2177
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat...	ORPHA:99885
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Homocystinuria	OMIM:601552
Pineoblastoma	Lethargy	ORPHA:251909
Eisenmenger Syndrome	Lethargy, Renal insufficiency	ORPHA:97214
Scorpion Envenomation	Restlessness, Ketonuria, Diarrhea, Vomiting, Glycosuria, Acute kidney injury	ORPHA:466677
Aspartylglucosaminuria	Diarrhea, Aspartylglucosaminuria	OMIM:208400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Hypertyrosinemia, Increased urinary glycerol, Ketonuria, Diarrhea	ORPHA:247598
Aspartylglucosaminuria	Aspartylglucosaminuria	ORPHA:93
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Ketonuria, Hypospadias, Vomiting, Dysphagia	OMIM:220111

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 Slc23a1

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 Slc23a1.

No publications found that use IMPC mice or data for Slc23a1.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Slc23a1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Slc23a1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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