Gene Summary

Name:
solute carrier family 38, member 3
Synonyms:
0610012J02Rik,  Snat3,  D9Ucla2

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal bone structure Slc38a3em1(IMPC)Bay HET Early adult 6.18×10-06
preweaning lethality, complete penetrance Slc38a3em1(IMPC)Bay HOM Early adult 0.00
decreased body length Slc38a3em1(IMPC)Bay HET Early adult 8.93×10-09
preweaning lethality, incomplete penetrance Slc38a3em1(IMPC)Bay HOM   Early adult 0.00
increased bone mineral content Slc38a3em1(IMPC)Bay HET Early adult 3.07×10-08

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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.

MicroCT E18.5

Embryo reconstruction

7 Images

Human diseases caused by Slc38a3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Slc38a3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Involuntary movements, Failure to thrive, Difficulty walking, Abnormality of coordina... ORPHA:442835
Developmental And Epileptic Encephalopathy 102
Inability to walk OMIM:619881

The table below shows human diseases predicted to be associated to Slc38a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Failure to thrive, ... OMIM:617872
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Hyperammonemia, Lethargy, Hyperlysinemia, Dibasicaminoaciduria OMIM:238750
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Glycine Encephalopathy 1
Hyperglycinuria, Lethargy, Myoclonus, Hyperglycinemia OMIM:605899
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic paraplegia, Spasticity, Spastic paraparesis, Impaired vibratory sensation, Failure to thr... OMIM:238970
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Hypomethioninemia, Hyperkinetic moveme... OMIM:236270
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Adrenal insufficiency, Hyperglycinemia, Renal insufficiency, Hyperam... OMIM:619386
Severe Canavan Disease
Spasticity, Inability to walk, Babinski sign, Lethargy, Elevated urine N-acetylaspartic acid leve... ORPHA:314911
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Failure to thrive, Myoclonus, Dysmetria, Lethargy, Head titubation, Ataxia, Trunca... OMIM:250620
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Alpha-amino... OMIM:605711
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... OMIM:606528
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Cere... OMIM:210210
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Spasticity, Methylmalonic aciduria, Failure to thrive, Hypomethioninemia, Letharg... OMIM:250940
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Urocanic aciduria, Ataxia, Abnormal circulating his... ORPHA:210128
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia, Myoclonus, Abnormal circulating arginine concentration, Abnormal... ORPHA:79096
Valinemia
Hyperkinetic movements, Hypervalinemia, Failure to thrive, Valinuria OMIM:277100
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia ORPHA:419
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... ORPHA:230
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Decreased circulating carnitine concentration, Hypoglycemia, Medium chain dicarb... OMIM:201450
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Diaminopentanuria
Ataxia, Hyperlysinuria, Cystinuria, Spasticity OMIM:222350
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... ORPHA:26792
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Tremor, Proteinuria, In... OMIM:274150
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Hypoglycemia, Failure to thrive, Hype... OMIM:606054
Saccharopinuria
Hyperlysinuria, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Distal sensory impairment, ... ORPHA:3124
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hypoglycemia OMIM:615158
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Methylmalonic aciduria, Hypomethioninemia, Spastic ataxia, Lethargy, Hyperhomocys... OMIM:277410
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitin... OMIM:614857
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Hemip... OMIM:235400
Transient Neonatal Diabetes Mellitus
Abnormality of the urinary system, Maturity-onset diabetes of the young, Failure to thrive, Hyper... ORPHA:99886
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus, Ataxia ORPHA:3199
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Lower limb ... OMIM:612736
Hawkinsinuria
Failure to thrive, Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphe... OMIM:140350
Argininosuccinic Aciduria
Aminoaciduria, Failure to thrive, Oroticaciduria, Hyperammonemia, Increased circulating argininos... OMIM:207900
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Tremor, Decreased serum creatinine OMIM:617744
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hypoglycemia, Hyperbilirubinemia, Letharg... OMIM:617156
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa... OMIM:620085
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Elevated urinary dihydrothymine level, Lethargy, Tetraplegia, Hypertonia, Urac... OMIM:274270
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Lethargy, Atax... OMIM:606777
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Homocystinuria, Spastic paraparesis, Cystathioninemia, Failure to thrive, Hypomethioninemia, Hemi... ORPHA:395
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis... OMIM:154230
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia... OMIM:300539
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Tremor, Pancreatic islet-cell ... ORPHA:276608
Isovaleric Acidemia
Hyperglycinuria, Lethargy, Elevated urinary isovalerylglycine level OMIM:243500
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Incoordination, Elevated circulating creatinine concentration, Glomerular sclerosis, Increased bl... OMIM:223900
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Hypogonadism, Hypocalcemia, Nephrolithiasis, Cystinuria ORPHA:163693
Tyrosinemia, Type Iii
4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Hypertyrosinemia OMIM:276710
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia ORPHA:147
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Argininemia
Progressive spastic quadriplegia, Diaminoaciduria, Hyperammonemia, Hemiplegia/hemiparesis ORPHA:90
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ... ORPHA:49041
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis OMIM:222730
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ... OMIM:277380
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... OMIM:605814
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Increased total bilirubin, Elevated circulating creatinine concentration, Decreased... OMIM:608836
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Hypertyrosinemia OMIM:276600
Developmental And Epileptic Encephalopathy 40
Spasticity, Myoclonus, Lethargy, Spastic tetraparesis, Small for gestational age, Choreoathetosis OMIM:617065
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Lethargy, Hypertonia, Ataxia, Cho... ORPHA:71277
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Gait imbalance, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circulating c... OMIM:618120
Developmental And Epileptic Encephalopathy 92
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Lethargy, Ataxia OMIM:617829
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive, Ataxia ORPHA:622
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Hypophosphatemic rickets, Large for gesta... ORPHA:263455
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthr... ORPHA:247598
Hyperphenylalaninemia, Bh4-Deficient, B
Decreased urinary neopterin level, Tremor, Rigidity, Hyperkinetic movements, Elevated urinary sul... OMIM:233910
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia, Hypoglycemia ORPHA:664
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine ORPHA:54057
Mody
Nephropathy, Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes m... ORPHA:552
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hypercalcemia, Nephrolithiasis, ... OMIM:143880
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Gait disturbance, Failure to thrive ORPHA:79283
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Hypoglycemia, Dicarboxylic aciduria OMIM:615026
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hypoglycemia, Dicarboxylic aciduria, Hyperammonemia, Elev... ORPHA:42
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta... OMIM:277400
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in... OMIM:248600
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Lethargy, Reduced TSH response to thyrotrophin-releasing ... OMIM:618573
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Increased serum pyruvate, Hypoglycemia, Ataxia OMIM:246900
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Preeclampsia
Chronic kidney disease, Acute kidney injury, Type I diabetes mellitus, Elevated circulating creat... ORPHA:275555
Formiminoglutamic Aciduria
Abnormal concentration of acylcarnitine in the urine, Abnormal circulating histidine concentration ORPHA:51208
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... OMIM:615605
Fructose Intolerance, Hereditary
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hypoglycemia, Failure to thrive, Hyper... OMIM:229600
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketonuria, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hyp... ORPHA:2089
Citrullinemia Type I
Spasticity, Failure to thrive, Hyperammonemia, Ankle clonus, Lethargy, Torticollis, Ataxia, Eleva... ORPHA:247525
Methylmalonic Acidemia With Homocystinuria
Lethargy, Gait disturbance, Failure to thrive ORPHA:26
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia,... OMIM:613845
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test, Elevated urinary formiminoglutamic acid level OMIM:229100
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Episodic ataxia, Myoclonus, Tremor, Lethargy, Hyperalaninemia, Increas... OMIM:312170
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Lethargy, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function OMIM:618224
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Hypoglycemia, Failure to thrive, Acute... OMIM:210200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu... ORPHA:71212
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Renal insufficiency, Hyperammonemia, Failure to thrive ORPHA:28
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Paralysis, Lethargy, Distal sensory impairment OMIM:613710
Dihydropyrimidinase Deficiency
Failure to thrive, Elevated circulating thymine concentration, Elevated urinary thymine level, El... OMIM:222748
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Failure to thrive, Hyperammonemia, Lethargy, Low plasma citrulline, Hypoargininemia, Ataxia, Epis... OMIM:237300
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Paraplegia, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Lethargy,... ORPHA:927
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Dicarbo... OMIM:212140
Classic Galactosemia
Depression, Hypoglycemia, Incoordination, Speech apraxia, Postural tremor, Gait imbalance, Action... ORPHA:79239
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperglycinemia, Glomerulonephritis, Tubulointerstitial ... ORPHA:470
Central Diabetes Insipidus
Depression, Failure to thrive, Hyponatremia, Lethargy, Weight loss, Nocturia, Diabetes insipidus ORPHA:178029
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Hypoglycemia, Large for gestational ag... OMIM:616026
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, ... ORPHA:101150
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ... OMIM:276700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Chronic kidney disease, Nephropathy, Elevated circulating cre... OMIM:617056
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Chorea, Renal insufficiency, Hyperammonemia, Hemiplegia/hemiparesis, Renal tubular dysfunction, L... ORPHA:289916
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia ORPHA:2158
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia, Ataxia ORPHA:23
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Ab... OMIM:123550
Isolated Atp Synthase Deficiency
Spastic paraplegia, Renal hypoplasia, Hypogonadism, Hyperammonemia, 3-Methylglutaconic aciduria, ... ORPHA:254913
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Myoclonus, Lethargy, Ataxia, Increased serum pyruvate OMIM:618225
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Chorea, Bradykinesia, Ataxia OMIM:618683
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Spasticity, Failure to thrive, Abnormal circula... OMIM:615838
Glutaric Acidemia Type 3
Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Failure to thrive... ORPHA:35706
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Renal insufficiency, Hyperammonemia, Lethargy, Choreoathetosis ORPHA:79312
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Hypoglycemia, Failure to thrive, Stage 5 chronic kidney disease, Hypergly... OMIM:251000
Leukoencephalopathy With Vanishing White Matter 1
Spasticity, Lethargy, Gait disturbance, Unsteady gait, Primary gonadal insufficiency, Decreased c... OMIM:603896
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Renal insufficiency, Hyperammonemia, Lethargy, Paraparesis, Ataxia, Choreoathetosis ORPHA:27
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Hyperammonemia, Hyperglutamatemia, Hyperglutaminemia, Low plasma citrulline, H... OMIM:237310
D-Glyceric Aciduria
Aminoaciduria, Spasticity, Failure to thrive, Hypoglycemia, Myoclonus, Appendicular spasticity, O... OMIM:220120
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Increased circulating ferritin concentration, Hypog... ORPHA:79230
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Spasticity, Depression, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, H... OMIM:124000
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia, 2-ethylhydracylic aciduria OMIM:610006
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Hypoglycemia, Elevated circulating propionylcarnitine concentr... OMIM:251110
3-Methylcrotonyl-Coa Carboxylase Deficiency
Spasticity, Organic aciduria, Hypoglycemia, Failure to thrive in infancy, Hyperammonemia, Abnorma... ORPHA:6
Pontocerebellar Hypoplasia, Type 6
Spasticity, Failure to thrive, Appendicular spasticity, Lethargy, Lower limb spasticity, Upper li... OMIM:611523
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Early Myoclonic Encephalopathy
Lethargy, Myoclonus ORPHA:1935
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... ORPHA:97362
Holocarboxylase Synthetase Deficiency
Organic aciduria, Hyperammonemia, Lethargy, Weight loss, Ataxia ORPHA:79242
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Failure to thrive, Hypoketotic hypoglycemia, Hy... OMIM:609015
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 concentration, Neonatal hyperbilirubinemia, Lethargy, Elevated circulati... ORPHA:95717
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Small for gestational age, Failure to thrive, Hypoglycemia, Myocl... OMIM:619055
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concentr... OMIM:600649
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Abnormal pyramidal sign, Failure to thrive, Ataxia OMIM:618228
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Renal tubular acidosis, Hemiplegia/hemiparesis, Transient hyperlipidemia, Lethargy ORPHA:156
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Small for gestational age, Neonatal death OMIM:610498
Lethal Infantile Mitochondrial Myopathy
Lethargy, Renal insufficiency ORPHA:254857
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Episodic ataxia, Oroticaciduria, Elevated circulating uracil concentration, Hy... OMIM:311250
Citrullinemia, Classic
Failure to thrive, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Lethargy, Hypoargininemia, ... OMIM:215700
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Obesity, Myoclonus, Proteinuria, Delayed puberty, Increased blood urea nitrog... ORPHA:251004
Carnitine Palmitoyltransferase I Deficiency
Ketonuria, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Hyperammonemia, Renal tubular acidosi... OMIM:255120
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperprolinemia, Lethargy, Failure to thrive in infancy, Hyperalaninemia OMIM:619064
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co... ORPHA:3337
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Exercise-induced myoglobinu... OMIM:201475
Mitochondrial Complex I Deficiency, Nuclear Type 5
Babinski sign, Lethargy, Failure to thrive, Ataxia OMIM:618226
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Hypouricemia, Ketonuria, Glycosuria, Beta ... OMIM:227810
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Decreased body mass index, Decreased HDL cholesterol concentration, Delay... ORPHA:247585
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c... ORPHA:95716
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Spasticity, Ketonuria, Recurrent hypoglycemia, Myoclonus, Spastic hemi... ORPHA:20
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Postprandial hyperglycemia, Glycosuria,... ORPHA:2088
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Oliguria, Decreased circulating carnitine conce... ORPHA:159
Solitary Fibrous Tumor
Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Weight loss, R... ORPHA:2126
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyperammonemia, Tremor, El... OMIM:251100
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy, Hemiparesis OMIM:617900
Central Neurocytoma
Pain insensitivity, Depression, Paresthesia, Babinski sign, Lethargy, Ataxia ORPHA:73256
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Hemiparesis OMIM:613002
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Dicarboxylic aciduria, Hyperammonemia, Elevated circulating creatine kinase concent... OMIM:212138
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Tyrosinosis
Hypertyrosinemia OMIM:276800
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic paraplegia, Impaired vibratory sensation, Failure to thrive, Oroticaciduria, Speech aprax... ORPHA:415
Cockayne Syndrome Type 1
Male hypogonadism, Failure to thrive, Difficulty walking, Renal insufficiency, Tremor, Proteinuri... ORPHA:90321
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Nocturia, Elevated circulating dihydroxyphenylacet... OMIM:223360
Infantile Liver Failure Syndrome 2
Lethargy, Hyperammonemia, Hypoglycemia OMIM:616483
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperparathyroidis... OMIM:620366
Methylcobalamin Deficiency Type Cble
Failure to thrive, Lower limb hypertonia, Hypomethioninemia, Glomerulopathy, Lethargy, Hyperhomoc... ORPHA:2169
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Ataxia, Bradykinesia, Depression, Goiter, Glucose intolerance, Cogwheel rigidity,... ORPHA:254892
Developmental And Epileptic Encephalopathy 41
Spasticity, Nephrocalcinosis, Tetraparesis, Inability to walk, Babinski sign, Lethargy OMIM:617105
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Increased circulating iron concentration, Lethargy, Increased circ... OMIM:602390
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Spasticity, Hyperglycinemia, Myoclonus, Abnormality of extrapyramidal motor function, Lethargy, A... OMIM:614299
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Tremor, Lethargy, Abnormal pyramidal sign, Gait disturbance, Ataxia, ... ORPHA:765
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Failure to thrive OMIM:613561
Drug-Induced Lupus Erythematosus
Hematuria, Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, ... ORPHA:231111
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Lethargy, Isothe... OMIM:611590
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga... OMIM:607483
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Paresthesia, Diabetes mellitus ORPHA:49827
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypoglycemia, Adrenocorticotropin de... ORPHA:199299
Juvenile Nephropathic Cystinosis
Chronic kidney disease, Renal phosphate wasting, Hypouricemia, Hypophosphatemia, Aminoaciduria, A... ORPHA:411634
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl... ORPHA:465508
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... OMIM:174000
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Increased circulating prolactin concentration, Decreased circulating T4 concentration... ORPHA:99832
Hereditary Central Diabetes Insipidus
Lethargy, Diabetes insipidus, Weight loss ORPHA:30925
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Depres... ORPHA:90674
Tenorio Syndrome
Hypoglycemia, Cerebral palsy, Clumsiness, Gait disturbance, Hypoinsulinemia, Enuresis OMIM:616260
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Methylmalonic aciduria, Hypoglycemia, Elevated circulating palmitoleylcarnitine concen... ORPHA:79282
Meningococcal Meningitis
Paresthesia, Renal insufficiency, Lethargy, Increased circulating procalcitonin concentration, El... ORPHA:33475
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Renal hypoplasia, Myoclonus, Renal insufficiency, Renal tubular acidosis, ... OMIM:614922
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Decreased serum testosterone concentration, Hypogonadism, Tremor, Lethargy, De... OMIM:201100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Obesity, Hypocalcemia, Hyp... ORPHA:26793
Isolated Complex I Deficiency
Proximal tubulopathy, Failure to thrive, Hypoglycemia, Lethargy, Ataxia, Increased serum pyruvate... ORPHA:2609
Familial Hypoaldosteronism
Failure to thrive, Adrenal insufficiency, Hyponatremia, Decreased urinary potassium, Decreased ci... ORPHA:427
Marburg Hemorrhagic Fever
Hypoalbuminemia, Hypoglycemia, Elevated circulating creatinine concentration, Renal insufficiency... ORPHA:99826
Susac Syndrome
Somatic sensory dysfunction, Gait ataxia, Lethargy, Apathy, Upper motor neuron dysfunction ORPHA:838
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Uremic Pruritus
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Depression, Stage 5 chronic kidn... ORPHA:94059
Cyclic Vomiting Syndrome
Lethargy, Ataxia OMIM:500007
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Benign Samaritan Congenital Myopathy
Lethargy, Fasciculations ORPHA:324581
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Hyperammonemia, Lethargy, 3-hyd... OMIM:253270
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypoglycemia, Hypocalcemia, Lethargy, Micropenis, Hypospadias, Small for gesta... OMIM:607143
Idiopathic Intracranial Hypertension
Lethargy, Obesity, Depression ORPHA:238624
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypocalcemia, Babinski sign... ORPHA:746
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure ... ORPHA:398079
Typhoid
Lethargy, Tremor, Hypertonia, Ataxia ORPHA:99745
Transcobalamin Ii Deficiency
Methylmalonic aciduria, Failure to thrive, Lethargy, Hyperhomocystinemia, Ataxia OMIM:275350
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic... ORPHA:79284
Mitochondrial Complex I Deficiency, Nuclear Type 1
Tongue fasciculations, Spasticity, Failure to thrive, Hypoglycemia, 3-hydroxydicarboxylic aciduri... OMIM:252010
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Decr... ORPHA:90673
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Maturity-onset diabetes of the young, El... OMIM:137920
Cholera
Acute kidney injury, Hypoglycemia, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, H... ORPHA:173
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Lethargy, Increased urinary glycerol OMIM:229700
Staphylococcal Necrotizing Pneumonia
Elevated circulating C-reactive protein concentration, Lethargy, Increased circulating procalcito... ORPHA:36238
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperbilirubinemia, ... OMIM:251880
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... ORPHA:447
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Aminoaci... OMIM:219800
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Myoclonus, Hyperglycinemia, Ankle clonus, Lethargy, Hypertonia, Exag... OMIM:620423
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Lethargy, Abnormal pyramidal sign, Ataxia, Ethylmalonic aciduria OMIM:201470
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Reactive hypoglycemia, Hyperuricemi... ORPHA:469
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis, Hyponatremia, Lethargy, Small for gestational age ORPHA:391673
Biotinidase Deficiency
Hyperammonemia, Lethargy, Organic aciduria, Ataxia OMIM:253260
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Type I diabetes mellitus, Failure to thrive, Hyperbilirubinemia, Letha... OMIM:557000
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure to thrive, Hypogonadis... ORPHA:398069
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Thyroid Dyshormonogenesis 1
Lethargy, Hypothyroidism, Goiter OMIM:274400
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy, Increased serum pyruvate OMIM:604377
Multifocal Atrial Tachycardia
Lethargy, Hypothyroidism ORPHA:3282
Biotinidase Deficiency
Spastic paraparesis, Organic aciduria, Hyperammonemia, Lethargy, Ataxia ORPHA:79241
Scrub Typhus
Lethargy, Renal insufficiency, Tremor ORPHA:83317
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Myoclonus, Babinski sign, Lethargy, Limb hypertonia, Limb tremor, Torticollis, Exa... OMIM:608643
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased... ORPHA:226307
Glycerol Kinase Deficiency
Hypoglycemia, Increased urinary glycerol, Adrenal insufficiency, Adrenocortical hypoplasia, Letha... OMIM:307030
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Failure to thrive, Elevated circulating phytanic acid concentration, Renal cyst, Let... OMIM:614866
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Ogden Syndrome
Lethargy, Shuffling gait, Hypertonia, Torticollis ORPHA:276432
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Chorea, Gait ataxia, Myoclonus, Lethargy, Ataxia, Spastic tetraplegia OMIM:618321
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Neonatal death OMIM:618232
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Glan... OMIM:620306
Cirrhosis, Familial
Increased level of L-fucose in urine, Lethargy, Increased level of propylene glycol in blood OMIM:215600
Medulloblastoma
Dysmetria, Lethargy, Ataxia, Cerebellar ataxia associated with quadrupedal gait, Intention tremor... ORPHA:616
Kufor-Rakeb Syndrome
Blepharospasm, Urinary incontinence, Difficulty walking, Myoclonus, Rigidity, Babinski sign, Park... ORPHA:306674
Dengue Fever
Lethargy, Hypoproteinemia ORPHA:99828
Evans Syndrome
Lethargy ORPHA:1959
Pseudo-Torch Syndrome 2
Lethargy, Abnormal renal corticomedullary differentiation OMIM:617397
Encephalitis Lethargica
Urinary incontinence, Lethargy, Parkinsonism, Tremor ORPHA:83600
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... OMIM:218700
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Hyperbilirub... OMIM:613986
Histiocytoid Cardiomyopathy
Failure to thrive, Hypoglycemia, Hemiplegia, Renal cyst, Lethargy ORPHA:137675
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy, Failure to thrive, Hemiparesis OMIM:620233
Semilobar Holoprosencephaly
Spasticity, Depression, Central hypothyroidism, Failure to thrive, Inability to walk, Decreased r... ORPHA:220386
Alobar Holoprosencephaly
Spasticity, Depression, Central hypothyroidism, Failure to thrive, Inability to walk, Decreased r... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Spasticity, Depression, Central hypothyroidism, Failure to thrive, Inability to walk, Decreased r... ORPHA:93926
Lobar Holoprosencephaly
Spasticity, Depression, Central hypothyroidism, Failure to thrive, Inability to walk, Decreased r... ORPHA:93924
Trichinellosis
Hemiplegia, Hemiparesis, Babinski sign, Lethargy, Apathy ORPHA:863
Amoebiasis Due To Free-Living Amoebae
Intrarenal abscess, Hemiparesis, Lethargy, Abnormality of the adrenal glands, Ataxia ORPHA:68
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin... ORPHA:466650
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Involuntary movements, Failure to thrive, Difficulty walking, Abnormality of coordina... ORPHA:442835
Ebola Hemorrhagic Fever
Lethargy ORPHA:319218
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive ORPHA:1329
Glycine Encephalopathy
Lethargy, Hyperglycinemia ORPHA:407
Hydranencephaly
Opisthotonus, Lethargy, Atrophic pituitary gland, Spastic diplegia ORPHA:2177
Diamond-Blackfan Anemia
Renal agenesis, Horseshoe kidney, Lethargy, Hypospadias, Small for gestational age ORPHA:124
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Renal insufficiency, Hyperuricemia... ORPHA:97214
Pineoblastoma
Paralysis, Lethargy ORPHA:251909
Developmental And Epileptic Encephalopathy 102
Inability to walk OMIM:619881

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 Slc38a3

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 Slc38a3.

No publications found that use IMPC mice or data for Slc38a3.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Slc38a3em1(IMPC)Bay Exon Deletion Mice
Slc38a3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc38a3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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