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Gene: Slc23a1 MGI:1341903

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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 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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria OMIM:268700
Glycine Encephalopathy 1
Hyperglycinuria, Death in infancy, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Im... OMIM:605899
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:239500
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Prolinuria, Enterocolitis, Calcium oxalate nephrolithiasis, Increased level o... OMIM:260005
Hydroxykynureninuria
Elevated urinary 3-hydroxykynurenine level, Vomiting, Elevated urinary xanthurenic acid level OMIM:236800
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder, 2-hydroxyadipic aciduria, Alpha-aminoadipic aciduria OMIM:204750
Hyperlysinuria With Hyperammonemia
Lethargy, Hyperlysinuria, Dibasicaminoaciduria OMIM:238750
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Vomiting, Decreased glomerular filtration rate, Uric... ORPHA:94088
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Generalized aminoaciduria, Vomiting, Renal tubular dysfunction OMIM:606528
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Anorexia, Renal insufficiency, Death in infancy, Lethargy, Lacticaciduria OMIM:619386
Hartnup Disorder
Attention deficit hyperactivity disorder, Elevated urinary indoleacetic acid level, Hyperactivity... OMIM:234500
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Hypertryptophanemia
Aggressive behavior, Hypersexuality, Depression, Tryptophanuria OMIM:600627
Threoninemia
Hyperthreoninuria OMIM:273770
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Carnosinemia
Carnosinuria OMIM:212200
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Uraciluria, Hyperactivity, Elevated urinary dihydrothymine level OMIM:274270
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Galactosemia Iii
Aminoaciduria, Galactosuria, Vomiting OMIM:230350
Valinemia
Vomiting, Valinuria OMIM:277100
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Severe Canavan Disease
Vomiting, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Lethargy, Elevated urine N-acetylas... ORPHA:314911
Camptodactyly 1
Increased urinary taurine OMIM:114200
Indolylacroyl Glycinuria With Impaired Intellectual Development
Hyperglycinuria OMIM:243050
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Phenylketonuria
Depression, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid ... OMIM:261600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Renal tubular ... OMIM:162000
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Alpha-Methylacetoacetic Aciduria
Vomiting, Elevated urinary 2-methyl-3-hydroxybutyric acid level OMIM:203750
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Vomiting, Medullary nephrocalcinosis, Nephrolithiasis, Lethargy, Hypercalciuria... OMIM:143880
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Vomiting ORPHA:622
Central Diabetes Insipidus
Depression, Polydipsia, Diarrhea, Nocturia, Lethargy, Anorexia ORPHA:178029
Homocarnosinosis
Carnosinuria OMIM:236130
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Glutaric Acidemia Type 3
Glutaric aciduria, Lethargy, Ketonuria, Impulsivity ORPHA:35706
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Lethal Infantile Mitochondrial Myopathy
Lethargy, Renal insufficiency ORPHA:254857
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Death in childhood, Episodic vomiting OMIM:618224
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Anorexia ORPHA:79283
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... 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
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Increased level of methylsuccinic acid in urine, Ethylmalonic aciduria ORPHA:26792
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Diarrhea, Vomiting, Proximal tubulopathy OMIM:612075
Hyperlysinemia, Type I
Hyperlysinuria, Cystinuria, Hyperactivity, Ornithinuria, Argininuria, Homocitrullinuria OMIM:238700
Gracile Syndrome
Aminoaciduria OMIM:603358
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Abnormal urinary ele... ORPHA:85450
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Diarrhea, Vomiting, Low-molecu... ORPHA:18
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Hereditary Central Diabetes Insipidus
Diarrhea, Lethargy, Vomiting, Polydipsia ORPHA:30925
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Decreased urinary sulfate, Death in infancy, Increased urinary sulfite level, E... OMIM:272300
Hyperphenylalaninemia, Bh4-Deficient, B
Decreased urinary neopterin level, Elevated urinary sulfatide level, Lethargy, Dysphagia, Decreas... OMIM:233910
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... ORPHA:2260
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease... OMIM:618061
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... OMIM:174000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Death in childhood, Bradykinesia OMIM:618683
Isovaleric Acidemia
Hyperglycinuria, Lethargy, Vomiting, Elevated urinary isovalerylglycine level OMIM:243500
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria OMIM:615158
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Increased level of gamma-aminobutyric acid in urine, Aggressive behavior... OMIM:271980
Methionine Malabsorption Syndrome
Aminoaciduria, Diarrhea OMIM:250900
Riboflavin Deficiency
Lethargy, Dicarboxylic aciduria OMIM:615026
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Depression, Prolinuria, Hydroxyprolinuria, Dia... ORPHA:79101
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine OMIM:231900
Phenylketonuria
Phenylalaninuria, Depression ORPHA:716
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, D... OMIM:605711
Cystathioninuria
Cystathioninuria, Nephrolithiasis ORPHA:212
Hypotonia-Cystinuria Syndrome
Polyphagia, Cystinuria, Nephrolithiasis ORPHA:163690
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Vomiting, Medium chain dicarboxylic aciduria, Lethargy, Elevated urinary 7-hydro... OMIM:201450
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, 2-ethylhydracylic aciduria OMIM:610006
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Aggressive behavior, T... ORPHA:488627
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Dysphagia, Abnormal urinary acylglycine profile ORPHA:391417
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Cystinosis
Nephropathy, Aminoaciduria, Vomiting, Polydipsia, Renal insufficiency, Renal tubular dysfunction,... ORPHA:213
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Death in childhood OMIM:609560
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Renal insufficiency ORPHA:28
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Galactosemia I
Aminoaciduria, Galactosuria, Diarrhea, Vomiting, Increased level of galactitol in urine, Albuminuria OMIM:230400
Lipoyltransferase 1 Deficiency
Alaninuria, Hyperglutaminuria, Death in infancy, Lacticaciduria OMIM:616299
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Lethargy OMIM:606777
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Death in childhood, Neonatal death... OMIM:614922
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Death in childhood, 3-Methylglutaconic aciduria, Lacticaciduria OMIM:604273
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Elevated urine N-acetylaspartic acid level, In... OMIM:618384
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... ORPHA:93598
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria, Lethargy, Methylmalonic aciduria OMIM:236270
Gaba-Transaminase Deficiency
Lethargy, Death in childhood OMIM:613163
Cyclic Vomiting Syndrome
Vomiting, Attention deficit hyperactivity disorder, Lethargy, Anorexia, Nausea OMIM:500007
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Vomiting, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Lethargy, 3-hydroxyisovaleri... OMIM:210200
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Nephrocalcinosis, Hypercalciuria, Nephrolithiasis OMIM:601198
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Vomiting, Glycosuria, Renal c... OMIM:231680
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Lethargy OMIM:250620
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Distal renal tubular acidosis, Lethargy, Anorexia, Isothenuria OMIM:611590
Muscular Dystrophy, Cardiac Type
Carnosinuria OMIM:309930
Saccharopinuria
Hyperlysinuria, Cystinuria, Citrullinuria ORPHA:3124
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Glutathionuria
Urinary incontinence, Constipation, Glutathionuria OMIM:231950
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Death in infanc... OMIM:613404
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Argininemia
Diaminoaciduria ORPHA:90
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Idiopathic Intracranial Hypertension
Vomiting, Lethargy, Depression, Nausea ORPHA:238624
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Diarrhea, Vomiting, Methylmalonic aciduria, Lethargy OMIM:250940
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Ketonuria, Glycosuria ORPHA:2089
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal... OMIM:602522
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Neonatal death OMIM:610498
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... OMIM:613090
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr... OMIM:615751
Maple Syrup Urine Disease, Type Ia
Lethargy, Vomiting, Increased level of hippuric acid in urine, Positive 2,4-dinitrophenylhydrazin... OMIM:248600
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria, Death in infancy, Neonatal death OMIM:617184
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Vomiting, Death in childhood OMIM:618225
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Death in infancy,... OMIM:201475
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Lethargy, Vomiting ORPHA:2394
Pauci-Immune Glomerulonephritis
Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati... ORPHA:93126
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Polydipsia,... ORPHA:411634
Ornithine Transcarbamylase Deficiency
Aminoaciduria ORPHA:664
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, 3-Methylglutaconic aciduria OMIM:618120
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Lethargy, Renal insufficiency, Anorexia ORPHA:79312
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy, Renal insufficiency, Renal tubular dysfunction ORPHA:289916
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Diarrhea, Vomiting, Oroticaciduria, Decreased ... ORPHA:470
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Diarrhea, Vomiting, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Lethargy ORPHA:42
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Episodic vomiting, Homocitrullinuria OMIM:238970
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Vomiting, Dysphagia, Episodic vomiting OMIM:618226
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Homocystinuria, Methylmalonic aciduria OMIM:309541
Dihydropyrimidinase Deficiency
Elevated urinary thymine level, Elevated urinary dihydrothymine level, Lethargy, Hyperactivity, E... OMIM:222748
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Diarrhea, Polydipsia, Glycosuria, Hypernatriuria, Vomiting, Low-... ORPHA:47159
Holocarboxylase Synthetase Deficiency
Lethargy, Organic aciduria, Anorexia ORPHA:79242
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Diarrhea, Vomiting, Glycosuria, Proteinuria, Lethargy, Renal Fanconi syndrome, Agitation ORPHA:263455
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Dysphagia OMIM:613561
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Diarrhea, Anuria, Vomiting, Elevated circu... ORPHA:340
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Vomiting, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, R... ORPHA:436271
Sarcosinemia
Hypersarcosinuria ORPHA:3129
Holocarboxylase Synthetase Deficiency
Vomiting, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Lethargy, 3-hydroxyis... OMIM:253270
Leber Congenital Amaurosis 1
Hyperthreoninuria, Eye poking OMIM:204000
Thyroid Dyshormonogenesis 1
Lethargy, Constipation OMIM:274400
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Death in childhood OMIM:246900
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Neonatal death OMIM:618232
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diarrhea, Anorexia ORPHA:49827
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Lethargy OMIM:255120
Propionic Acidemia
Hyperglycinuria, Vomiting, Increased level of hippuric acid in urine, Lethargy, Constipation OMIM:606054
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Carnitine Deficiency, Systemic Primary
Vomiting, Lethargy, Diarrhea, Dicarboxylic aciduria OMIM:212140
Infantile Nephropathic Cystinosis
Aminoaciduria, Vomiting, Polydipsia, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphatu... ORPHA:411629
Pontocerebellar Hypoplasia, Type 6
Lethargy, Gastroesophageal reflux, Death in childhood OMIM:611523
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Lethargy, Gastroesophageal reflux, Methylmalonic aciduria OMIM:614857
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Gastroesophageal reflux OMIM:249270
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Vomiting OMIM:618228
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Methylmalonic aciduria, Stage 5 chronic kidney disease, Lethargy, Tubulointer... OMIM:251000
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Bradykinesia, Constipation ORPHA:101150
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Lethargy, Nausea, Motor stereotypy, Agitation ORPHA:927
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Death in childhood, Prot... OMIM:220110
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren... OMIM:208085
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Vomiting, Ketonuria, Organic aciduria, Lethargy OMIM:210210
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Polydipsia, Hyperphosphaturia, Hypercalciuria, Constipation, Polyuria OMIM:239200
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma... OMIM:614105
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
2P21 Microdeletion Syndrome
Cystinuria, Nephrolithiasis ORPHA:163693
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria OMIM:616026
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption ORPHA:2158
Meningococcal Meningitis
Lethargy, Renal insufficiency, Projectile vomiting, Anorexia ORPHA:33475
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Agitation ORPHA:276608
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Death in childhood, Death in infancy OMIM:619064
Methylmalonic Aciduria, Cbla Type
Vomiting, Ketonuria, Methylmalonic aciduria, Elevated urine 3-hydroxypropionic acid level, Elevat... OMIM:251100
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Lethargy, Agitation ORPHA:276556
Hypotonia-Cystinuria Syndrome
Polyphagia, Cystine crystalluria, Cystinuria, Nephrolithiasis OMIM:606407
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Ketonuria, Inflexible adherence to routines OMIM:608049
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level OMIM:605850
Sialidosis Type 1
Aminoaciduria, Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosac... ORPHA:812
Idiopathic Congenital Hypothyroidism
Lethargy, Constipation ORPHA:95717
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Lethargy, Agitation ORPHA:276575
Citrullinemia Type Ii
Enuresis, Diarrhea, Vomiting, Abnormal eating behavior, Aggressive behavior, Lethargy, Hyperactiv... ORPHA:247585
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Vomiting OMIM:600649
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Lethargy, Agitation ORPHA:276580
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Renal insufficiency ORPHA:27
Hereditary Orotic Aciduria
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria ORPHA:30
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Lethargy, Agitation ORPHA:324575
Myasthenic Syndrome, Congenital, 22
Cystinuria OMIM:616224
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Vomiting, Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Lethargy, Methylmalonic aciduria OMIM:277410
Infantile Liver Failure Syndrome 2
Lethargy, Vomiting OMIM:616483
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Gastroesophageal reflux, Methylmalonic aciduria OMIM:612073
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Neonatal death, Lacticaciduria OMIM:619003
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Vomiting,... OMIM:229600
Familial Hypoaldosteronism
Diarrhea, Decreased urinary potassium, Lethargy, Proximal renal tubular acidosis, Renal salt wasting ORPHA:427
Molybdenum Cofactor Deficiency, Type A
Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Decreas... OMIM:252150
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Vomiting, Methylmalonic aciduria, Cystathioninu... OMIM:277400
Classic Galactosemia
Diarrhea, Depression, Vomiting, Attention deficit hyperactivity disorder, Lethargy ORPHA:79239
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Vomiting, Elevated circulating creatinine concentration, Renal insufficiency, Death in ... OMIM:608836
Isolated Atp Synthase Deficiency
Lethargy, Renal hypoplasia, 3-Methylglutaconic aciduria ORPHA:254913
Alkaptonuria
Decreased glomerular filtration rate, Dark urine, Elevated urinary homogentisic acid, Nephrolithi... OMIM:203500
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Renal tubular acidosis ORPHA:156
Developmental And Epileptic Encephalopathy 41
Lethargy, Nephrocalcinosis OMIM:617105
Citrullinemia Type I
Vomiting, Lethargy, Gastroesophageal reflux ORPHA:247525
Argininemia
Vomiting, Oroticaciduria, Hyperactivity, Episodic vomiting, Anorexia, Diaminoaciduria OMIM:207800
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Hyp... ORPHA:2088
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria ORPHA:414
Cholera
Acute kidney injury, Diarrhea, Vomiting, Lethargy, Decreased urine output, Abnormality of renal e... ORPHA:173
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
2,4-Dienoyl-Coa Reductase Deficiency
Hyperlysinuria, Death in childhood, Death in infancy OMIM:616034
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Death in childhood, Death in infancy, Neonatal death, Death in adolescence OMIM:619055
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria ORPHA:23
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Vomiting, Exocrine pancreatic insufficiency, Death in childhood, Letha... OMIM:557000
Methylcobalamin Deficiency Type Cble
Lethargy, Glomerulopathy, Vomiting, Hemolytic-uremic syndrome ORPHA:2169
D-Glyceric Aciduria
Aminoaciduria, Tongue thrusting, Micropenis, Gastroesophageal reflux OMIM:220120
Typhoid
Gastrointestinal hemorrhage, Lethargy, Diarrhea, Constipation ORPHA:99745
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Lethargy, Vomiting OMIM:207900
Hemochromatosis, Type 2A
Lethargy OMIM:602390
N-Acetylglutamate Synthase Deficiency
Aggressive behavior, Lethargy, Vomiting, Anorexia OMIM:237310
Multiple Mitochondrial Dysfunctions Syndrome 3
Beta-aminoisobutyric aciduria OMIM:615330
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Hypertyrosinemia OMIM:276600
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re... OMIM:227810
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232240
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Methylmalonic Aciduria, Cblb Type
Lethargy, Vomiting, Ketonuria, Methylmalonic aciduria OMIM:251110
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Polydipsia, Glycosuria, Exocrine pancreatic insufficien... OMIM:219800
Hereditary Fructose Intolerance
Chronic kidney disease, Vomiting, Diarrhea, Renal insufficiency, Lethargy, Constipation, Nausea ORPHA:469
Molybdenum Cofactor Deficiency, Type B
Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Xanthin... OMIM:252160
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Increased urinary glycerol OMIM:229700
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Vomiting, Death in infancy OMIM:614299
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy OMIM:312170
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria OMIM:614520
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Elevated circulating creatinine concentr... ORPHA:91500
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Vomiting OMIM:237300
Molybdenum Cofactor Deficiency, Type C
Increased urinary taurine, Neonatal death OMIM:615501
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Death in childhood, Death in infancy OMIM:614946
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Susac Syndrome
Lethargy, Apathy ORPHA:838
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Vomiting, Diarrhea, Lethargy, Melena, Nausea, Dysphagia ORPHA:319218
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Lethargy, Stomatitis OMIM:277380
Scrub Typhus
Lethargy, Renal insufficiency ORPHA:83317
Biotinidase Deficiency
Vomiting, Lethargy, Diarrhea, Organic aciduria OMIM:253260
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Vomiting, Diarrhea, Dicarboxylic aciduria, Lethargy, Myoglobinuria ORPHA:71212
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Diarrhea, Ketonuria, Lethargy, Apathy, Episodic vomiting, Anorexia ORPHA:20
Leigh Syndrome
Generalized aminoaciduria, Methylmalonic aciduria, Renal tubular acidosis, Renal tubular dysfunct... ORPHA:506
Transcobalamin Ii Deficiency
Vomiting, Lethargy, Diarrhea, Methylmalonic aciduria OMIM:275350
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Polycystic kidney dysplasia, Death in childhood OMIM:214110
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Lethargy, Stomatitis, Methylmalonic aciduria ORPHA:79284
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Diarrhea, Ketonuria, Elevated urinary 3-methylcroto... OMIM:246450
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Death in childhood, Hydronephrosis, Dysphagia, Albuminuria, Hypospadias, Renal cor... OMIM:214100
Citrullinemia, Classic
Oroticaciduria, Lethargy, Vomiting OMIM:215700
Cirrhosis, Familial
Increased level of L-fucose in urine, Lethargy OMIM:215600
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Diarrhea, Vomiting, Death in childhood, Aggressive behavior, Lethargy, Episodic vomiting OMIM:618321
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Oliguria, Dicarboxylic aciduria ORPHA:159
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Dicarboxylic aciduria OMIM:212138
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Diarrhea, Vomiting, Oroticaciduria, Stage 5 chronic kidney disease... OMIM:222700
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Renal artery stenosis... OMIM:617913
Hartnup Disease
Neutral hyperaminoaciduria, Abnormal urinary color ORPHA:2116
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Self-injurious behavior, Nephrocalcinosis, Depression, Gastroesophageal reflux, Ol... ORPHA:534
Methylmalonyl-Coa Epimerase Deficiency
Gastroesophageal reflux, Ketonuria, Methylmalonic aciduria OMIM:251120
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Ethylmalonic aciduria OMIM:201470
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Death in childhood OMIM:615838
Evans Syndrome
Lethargy ORPHA:1959
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Oroticaciduria, Lethargy, Vomiting OMIM:311250
Insulinoma
Polyphagia, Lethargy ORPHA:97279
Hyperlysinemia
Hyperlysinuria, Gastroesophageal reflux, Vomiting, Cystinuria, Hyperactivity, Dysphagia, Argininu... ORPHA:2203
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, Lethargy, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphenylace... OMIM:617156
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Depression, Methioninuria OMIM:236200
Bruck Syndrome 2
Hydroxyprolinuria OMIM:609220
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy, Myoglobinuria OMIM:609015
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Canavan Disease
Elevated urine N-acetylaspartic acid level OMIM:271900
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Familial Thyroid Dyshormonogenesis
Lethargy, Constipation ORPHA:95716
Dengue Fever
Gastrointestinal hemorrhage, Lethargy, Diarrhea ORPHA:99828
Fumarase Deficiency
Aminoaciduria, Elevated urine fumaric acid level, Bilateral fetal pyelectasis, Increased urine su... OMIM:606812
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy, Death in infancy OMIM:604377
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Gastroesophageal reflux, Xerostomia, Chronic constipation, Polyphagia, ... ORPHA:398069
Pseudo-Torch Syndrome 2
Lethargy, Abnormal renal corticomedullary differentiation OMIM:617397
Basal Ganglia Disease, Biotin-Thiamine Responsive
Lethargy, Vomiting, Dysphagia OMIM:607483
Wilson Disease
Aminoaciduria, Vomiting, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Nephrolithiasi... OMIM:277900
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Glycosuria, Renal insufficiency, Proteinuria, Lethar... ORPHA:447
Pyruvate Dehydrogenase Deficiency
Lethargy ORPHA:765
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Xerostomia, Polyphagia, Lethargy, Skin-picking, Micropenis ORPHA:398079
D-Glyceric Aciduria
Hyperglycinuria ORPHA:941
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... OMIM:309000
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... OMIM:614748
Necrotizing Enterocolitis
Vomiting, Diarrhea, Peritonitis, Lethargy, Bloody diarrhea ORPHA:391673
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Depression, Neonatal death, Hypertyrosinemia, Lacticaciduria, Tubulointerstitial n... OMIM:124000
Citrullinemia, Type Ii, Adult-Onset
Argininosuccinic aciduria OMIM:603471
Encephalitis Lethargica
Urinary incontinence, Lethargy, Bowel incontinence ORPHA:83600
Autosomal Dominant Progressive External Ophthalmoplegia
Depression, Gastroesophageal reflux, Gastroparesis, Bipolar affective disorder, Lethargy, Constip... ORPHA:254892
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting, Elevated urinary 3-hydroxybutyric acid, Ketonuria, Dicarboxylic aciduria, Ste... OMIM:605911
Isolated Complex I Deficiency
Vomiting, Lethargy, Proximal tubulopathy ORPHA:2609
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria OMIM:264700
Aromatic L-Amino Acid Decarboxylase Deficiency
Diarrhea, Gastroesophageal reflux, Lethargy, Tongue thrusting, Constipation OMIM:608643
Mitochondrial Complex I Deficiency, Nuclear Type 1
Vomiting, 3-hydroxydicarboxylic aciduria, Death in infancy, Lethargy, Lacticaciduria, Hypospadias OMIM:252010
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis OMIM:616084
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Methylmalonic aciduria, Renal insufficiency, Glomerulopathy, Lethargy, Stomatitis, Hem... ORPHA:79282
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Homocystinuria, Lethargy ORPHA:395
Congenital Disorder Of Glycosylation, Type Ig
Micropenis, Lethargy, Hypospadias OMIM:607143
Glycerol Kinase Deficiency
Vomiting, Increased urinary glycerol, Lethargy, Episodic vomiting, Nausea OMIM:307030
Interstitial Lung And Liver Disease
Aminoaciduria, Vomiting OMIM:615486
Staphylococcal Necrotizing Pneumonia
Addictive alcohol use, Lethargy ORPHA:36238
D-Lactic Aciduria With Gout
Elevated urine D-lactate level, Lacticaciduria OMIM:245450
Paget Disease Of Bone 5, Juvenile-Onset
Hypercalciuria, Increased urine deoxypyridinoline level, Hydroxyprolinuria OMIM:239000
Beta-Ketothiolase Deficiency
Diarrhea, Ketonuria, Vomiting, Oral aversion, Apathy, Anorexia, Agitation ORPHA:134
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Depression ORPHA:99832
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Ketonuria, Dicarboxylic aciduria, 3-hydroxydic... OMIM:619355
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Vomiting OMIM:251880
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Vomiting, Lethargy, Gastroesophageal reflux, Chronic diarrhea OMIM:620233
Biotinidase Deficiency
Lethargy, Organic aciduria ORPHA:79241
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Oroticaciduria, Lethargy, Episodic vomiting ORPHA:415
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Elevated urine acetoacetic acid level, Alpha-aminoadipic aciduria, 3-Methylglutaconic aciduria OMIM:620089
Ogden Syndrome
Lethargy ORPHA:276432
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Death in infancy, Renal cyst, Lethargy, Death in adolescence, Polycystic kidney dysp... OMIM:614866
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Glycosuria OMIM:618857
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Diarrhea OMIM:201100
Kufor-Rakeb Syndrome
Lethargy, Apathy, Urinary incontinence, Bradykinesia, Dysphagia, Bowel incontinence ORPHA:306674
Genetic Transient Congenital Hypothyroidism
Lethargy, Constipation ORPHA:226316
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria OMIM:602080
Trichinellosis
Nausea, Lethargy, Apathy, Dysphagia ORPHA:863
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Ketonuria, Lacticaciduria OMIM:619167
Late-Onset Isolated Acth Deficiency
Constipation, Lethargy, Diarrhea, Anorexia ORPHA:199299
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Lethargy OMIM:620306
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Vomiting ORPHA:26793
Symptomatic Form Of Hfe-Related Hemochromatosis
Lethargy, Apathy ORPHA:465508
Developmental And Epileptic Encephalopathy 50
Diarrhea, Oroticaciduria, Renal tubular acidosis, Death in childhood, Dysphagia OMIM:616457
Isolated Thyroid-Stimulating Hormone Deficiency
Attention deficit hyperactivity disorder, Lethargy, Depression, Constipation ORPHA:90674
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria ORPHA:289157
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Constipation ORPHA:90673
Amoebiasis Due To Free-Living Amoebae
Vomiting, Intrarenal abscess, Lethargy, Nausea, Restlessness ORPHA:68
Multiple Endocrine Neoplasia Type 1
Melena, Depression, Diarrhea, Gastroesophageal reflux, Vomiting, Nephrolithiasis, Lethargy, Hyper... ORPHA:652
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized aminoaciduria, Impaired oral bolus formation, Impaired oropharyngeal swallow response... ORPHA:404454
Multiple Mitochondrial Dysfunctions Syndrome 7
Impulsivity, Lethargy, Hyperactivity, Agitation OMIM:620423
Alkaptonuria
Aminoaciduria, Dark urine, Elevated urinary homogentisic acid, Nephrolithiasis ORPHA:56
Kanzaki Disease
Aminoaciduria, Increased urinary O-linked sialopeptides OMIM:609242
Marburg Hemorrhagic Fever
Diarrhea, Vomiting, Elevated circulating creatinine concentration, Renal insufficiency, Aggressiv... ORPHA:99826
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Galactosuria, Organic aciduria ORPHA:85276
Richards-Rundle Syndrome
Ketonuria ORPHA:1399
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Vomiting, Lethargy, Nausea ORPHA:466650
Mitochondrial Trifunctional Protein Deficiency
Lethargy ORPHA:746
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... ORPHA:416
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Histiocytoid Cardiomyopathy
Renal cyst, Lethargy, Vomiting ORPHA:137675
Semilobar Holoprosencephaly
Depression, Gastroesophageal reflux, Vomiting, Attention deficit hyperactivity disorder, Lethargy... ORPHA:220386
Alobar Holoprosencephaly
Depression, Gastroesophageal reflux, Vomiting, Attention deficit hyperactivity disorder, Lethargy... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depression, Gastroesophageal reflux, Vomiting, Attention deficit hyperactivity disorder, Lethargy... ORPHA:93926
Lobar Holoprosencephaly
Depression, Gastroesophageal reflux, Vomiting, Attention deficit hyperactivity disorder, Lethargy... ORPHA:93924
Xeroderma Pigmentosum
Aminoaciduria ORPHA:910
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Vomiting, Ketonuria OMIM:615453
Liver Disease, Severe Congenital
Aminoaciduria, Diarrhea, Vomiting, Recurrent urinary tract infections, Hyperechogenic kidneys, Ex... OMIM:619991
Medulloblastoma
Lethargy ORPHA:616
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Renal steatosis, Ketonuria OMIM:261680
Glycine Encephalopathy
Lethargy ORPHA:407
Glutaric Acidemia I
Glutaric aciduria, Ketonuria OMIM:231670
Complete Atrioventricular Septal Defect
Lethargy ORPHA:1329
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria OMIM:251900
Diamond-Blackfan Anemia
Horseshoe kidney, Lethargy, Hypospadias, Renal agenesis 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
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
Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ... ORPHA:99885
Traboulsi Syndrome
Homocystinuria OMIM:601552
Pineoblastoma
Lethargy ORPHA:251909
Eisenmenger Syndrome
Lethargy, Renal insufficiency ORPHA:97214
Scorpion Envenomation
Acute kidney injury, Diarrhea, Ketonuria, Glycosuria, Vomiting, Restlessness ORPHA:466677
Aspartylglucosaminuria
Diarrhea, Aspartylglucosaminuria OMIM:208400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Diarrhea, Ketonuria, Increased urinary glycerol, Hypertyrosinemia ORPHA:247598
Aspartylglucosaminuria
Aspartylglucosaminuria ORPHA:93
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Vomiting, Ketonuria, Death in infancy, Dysphagia, Hypospadias 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
Slc23a1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc23a1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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