banner
Genes Phenotypes Help, News, Blog

Gene: Slc38a3 MGI:1923507

Log in to follow

Gene Summary

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

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body length Slc38a3em1(IMPC)Bay HET Early adult 8.71×10-09
preweaning lethality, complete penetrance Slc38a3em1(IMPC)Bay HOM Early adult 0.00
abnormal bone structure Slc38a3em1(IMPC)Bay HET Early adult 5.71×10-06
increased bone mineral content Slc38a3em1(IMPC)Bay HET Early adult 1.52×10-08
preweaning lethality, incomplete penetrance Slc38a3em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Download thumbnail Download
MicroCT E18.5

Embryo reconstruction

7 Images

View 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
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... 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
Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia OMIM:238750
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Glycine Encephalopathy 1
Lethargy, Hyperglycinuria, Hyperglycinemia, Myoclonus OMIM:605899
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic gait, H... OMIM:238970
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Hypertoni... OMIM:236270
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... OMIM:619386
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... OMIM:606528
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Dysmetria, Aminoaciduria, Myoclonus, Truncal ataxia, Lethargy, Failure t... OMIM:250620
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Spastic tetraparesis, Hyperglycinuria, Lactica... OMIM:605711
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Ketonuria, Cerebral palsy, Hypoglycemia, Hyperglycinuria, Hyperammonemia, O... OMIM:210210
Urocanic Aciduria
Broad-based gait, Ataxia, Urocanic aciduria, Abnormal circulating histidine concentration, Gait a... ORPHA:210128
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... ORPHA:79096
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin... ORPHA:230
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re... ORPHA:324575
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... OMIM:612736
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Tremor, Elevated circulating creatinine concentration, In... OMIM:274150
Diaminopentanuria
Spasticity, Hyperlysinuria, Ataxia, Cystinuria OMIM:222350
Iminoglycinuria
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria ORPHA:42062
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hypertonia, Ethylmalonic ... ORPHA:26792
Preeclampsia
Increased body mass index, Small for gestational age, Abnormality of the kidney, Proteinuria, Chr... ORPHA:275555
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Hawkinsinuria
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria,... OMIM:140350
Propionic Acidemia
Increased level of hippuric acid in urine, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Hypergl... OMIM:606054
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hypoglycemia OMIM:615158
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria, Hypoglycemia OMIM:201450
Saccharopinuria
Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Cystinuria, Spastic diplegia, Gait ataxia... ORPHA:3124
Stimmler Syndrome
Aminoaciduria, Ataxia, Type II diabetes mellitus ORPHA:3199
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Elevated ... OMIM:614857
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Methylmalonic aciduria, Hyperhomocysti... OMIM:277410
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-... OMIM:617156
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Hypo... OMIM:300539
Tyrosinemia, Type Iii
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria OMIM:276710
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Argininosuccinic Aciduria
Ataxia, Hyperglutaminemia, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Aminoac... OMIM:207900
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Hydronephrosis, In... OMIM:154230
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti... ORPHA:276580
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Hemiparesis, Myoclonus, L... OMIM:606777
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyp... ORPHA:276608
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... ORPHA:276575
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Lower limb spasticity, Ataxia, Hyperhomocystinemia, Cystathioninemia, Hemipare... ORPHA:395
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
2P21 Microdeletion Syndrome
Hypoglycemia, Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia, Failure to thrive ORPHA:163693
Tyrosinemia, Type Ii
Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria OMIM:276600
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Incoordination, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glo... OMIM:223900
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury ORPHA:54057
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... OMIM:277400
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Hashimoto th... ORPHA:49041
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Isovaleric Acidemia
Lethargy, Hyperglycinuria OMIM:243500
Dihydropyrimidine Dehydrogenase Deficiency
Tetraplegia, Uraciluria, Hypertonia, Lethargy, Failure to thrive OMIM:274270
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Nonketotic hypoglycemia, Hypoglycemia... OMIM:608836
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... ORPHA:247598
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Incoordination, Small for gestational age, Cystathioninuria, Methylmaloni... OMIM:277380
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Lethargy, Spasticity OMIM:617065
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Dihydropyrimidinase Deficiency
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Abno... OMIM:222748
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Lethargy, Spasticity OMIM:617829
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Tremor, Hy... ORPHA:263455
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, 3-Methylglutaco... OMIM:618120
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive, Ataxia ORPHA:622
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Hyperammonemia ORPHA:664
Mody
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Transi... ORPHA:552
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... ORPHA:97279
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc... OMIM:143880
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Gait disturbance ORPHA:79283
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... OMIM:618573
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Ataxia, Elevated circulating creat... ORPHA:42
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria, Hypoglycemia OMIM:615026
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Renal dysplasia, Elevated circulating creatinine concentration, Abnorm... OMIM:616733
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc... OMIM:615751
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Lethargy, Ataxia, Hypoglycemia OMIM:246900
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ... OMIM:229600
Formiminoglutamic Aciduria
Abnormal concentration of acylcarnitine in the urine, Abnormal circulating histidine concentration ORPHA:51208
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... ORPHA:79299
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive, Gait disturbance ORPHA:26
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chron... OMIM:613845
Maple Syrup Urine Disease
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... OMIM:248600
Citrullinemia Type I
Torticollis, Ataxia, Slurred speech, Hyperammonemia, Ankle clonus, Elevated plasma citrulline, Le... ORPHA:247525
N-Acetylglutamate Synthase Deficiency
Lethargy, Failure to thrive, Hyperglutamatemia, Hyperammonemia OMIM:237310
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Lethargy... ORPHA:2089
Tyrosinemia, Type I
Hypertyrosinemia, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function OMIM:618224
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... ORPHA:71212
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Episodic... OMIM:312170
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Abn... ORPHA:79233
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Difficulty walking, Distal sensory impairment, Paralysis OMIM:613710
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Hypoglycemia, Opisthotonus, Elevated urinary 3-methylcrotonylgly... OMIM:210200
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Renal insufficiency, Failure to thrive, Hyperammonemia ORPHA:28
Classic Galactosemia
Speech apraxia, Decreased serum insulin-like growth factor 1, Incoordination, Ataxia, Postural tr... ORPHA:79239
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Ataxia, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure t... OMIM:237300
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Paraplegia, Hyperalaninemia, Fai... ORPHA:927
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Central Diabetes Insipidus
Hyponatremia, Weight loss, Depression, Lethargy, Failure to thrive, Diabetes insipidus, Nocturia ORPHA:178029
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Diabetes mellitus, Hypouricemia, Proteinuria, Hypoglycemia, Large for gestatio... OMIM:616026
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia ORPHA:2158
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Recurr... OMIM:212140
Coach Syndrome 2
Oculomotor apraxia, Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... OMIM:251000
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Ataxia, Hypoglycemia, Lacticaciduria, Depression, Tubulointerstitial nephritis,... OMIM:124000
Argininosuccinic Aciduria
Ataxia, Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia ORPHA:23
Severe Canavan Disease
Inability to walk, Babinski sign, Decerebrate rigidity, Lethargy, Spasticity ORPHA:314911
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hemiplegia/hemiparesis, Chorea, Hyperammonemia, Renal tubular dysfunction, C... ORPHA:289916
Isolated Atp Synthase Deficiency
Ataxia, Spastic paraplegia, Renal hypoplasia, Hyperammonemia, Tetraplegia, 3-Methylglutaconic aci... ORPHA:254913
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Spastic tetraparesis, Elevated circulating acylcarnitine concentration, Babinski sign, Ab... OMIM:615838
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum pyruvate, Ataxia, Myoclonus, Lethargy, Spasticity OMIM:618225
Leukoencephalopathy With Vanishing White Matter 1
Decreased circulating progesterone, Unsteady gait, Primary gonadal insufficiency, Gait disturbanc... OMIM:603896
Glutaric Acidemia Type 3
Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta... ORPHA:35706
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Hyperammonemia, Choreoathetosis, Lethargy, Failure to thrive ORPHA:79312
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:79230
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Hyperphenylalaninemia, Lethargy, Limb ... OMIM:233910
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Ataxia, Paraparesis, Hyperammonemia, Choreoathetosis, Tetraparesis, Lethargy ORPHA:27
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... OMIM:255120
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia, 2-ethylhydracylic aciduria OMIM:610006
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... ORPHA:6
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Hypoglycemia, Abnormal pyra... ORPHA:453533
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
D-Glyceric Aciduria
Hypoglycemia, Nonketotic hyperglycinemia, Spastic tetraplegia, Opisthotonus, Spasticity, Aminoaci... OMIM:220120
Pontocerebellar Hypoplasia, Type 6
Appendicular spasticity, Lower limb spasticity, Upper limb spasticity, Lethargy, Spasticity, Fail... OMIM:611523
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Renal Hypoplasia, Bilateral
Hyponatremia, Small for gestational age, Proteinuria, Microscopic hematuria, Chronic kidney disea... ORPHA:97362
Early Myoclonic Encephalopathy
Lethargy, Myoclonus ORPHA:1935
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... ORPHA:95717
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Clonus, Hypoglycem... OMIM:619055
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Spasticity, Ataxia, Hypoglycemia OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Holocarboxylase Synthetase Deficiency
Ataxia, Hyperammonemia, Weight loss, Organic aciduria, Lethargy ORPHA:79242
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Failure to thrive, Abnormal pyramidal sign, Ataxia OMIM:618228
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperparathyroidis... OMIM:620366
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy, Small for gestational age OMIM:610498
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Ataxia, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Orot... OMIM:311250
Citrullinemia, Classic
Ataxia, Hyperglutaminemia, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Elevate... OMIM:215700
Lethal Infantile Mitochondrial Myopathy
Lethargy, Renal insufficiency ORPHA:254857
Tyrosinosis
Hypertyrosinemia OMIM:276800
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity... ORPHA:251004
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Hemiplegia/hemiparesis, Renal tubular acidosis, Transient hyperlipidemia, Lethargy ORPHA:156
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoketotic hypogly... OMIM:600649
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Babinski sign, Failure to thrive, Ataxia OMIM:618226
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go... ORPHA:95716
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Lethargy, Failure to thrive in infancy, Hyperprolinemia OMIM:619064
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni... ORPHA:3337
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Generalized aminoaciduria, Hypercalciuri... OMIM:227810
Solitary Fibrous Tumor
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Urinary retention, Hy... ORPHA:2126
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Generaliz... ORPHA:2088
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... ORPHA:247585
Aapoaiv Amyloidosis
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... ORPHA:439232
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Hemiparesis, Lethargy OMIM:617900
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Dicarboxylic aciduria, Elevated circulating creatine kinase concentratio... OMIM:201475
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... ORPHA:159
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Ketonuria, Ataxia, Spastic hemiparesis, Hyperammonemia, Weight loss, 3-M... ORPHA:20
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Central Neurocytoma
Pain insensitivity, Ataxia, Babinski sign, Depression, Paresthesia, Lethargy ORPHA:73256
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Lethargy OMIM:613002
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tremor, Hyperamm... OMIM:251100
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamm... OMIM:212138
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Speech apraxia, Failure to thrive, Clonus, Poor coordination, Abnor... ORPHA:415
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Increased serum iron, Hypogonadotropic hypogonadism... OMIM:602390
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... OMIM:231680
Cockayne Syndrome Type 1
Lower limb spasticity, Renal insufficiency, Proteinuria, Ataxia, Tremor, Gait disturbance, Diffic... ORPHA:90321
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesis, Truncal... OMIM:607483
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Goiter, Elevated circulating thyroid-sti... ORPHA:99832
Developmental And Epileptic Encephalopathy 41
Inability to walk, Babinski sign, Nephrocalcinosis, Tetraparesis, Lethargy, Spasticity OMIM:617105
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Hyp... ORPHA:254892
Oligomeganephronia
Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Glomerulo... ORPHA:2260
Infantile Liver Failure Syndrome 2
Lethargy, Hypoglycemia, Hyperammonemia OMIM:616483
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Failure to thrive OMIM:613561
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Letha... ORPHA:765
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Glomerulopathy, Hemolytic-uremic syndrome, Hyperhomocystinemia, Lower limb hyp... ORPHA:2169
Drug-Induced Lupus Erythematosus
Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... ORPHA:231111
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Abnormality of extrapyramidal motor function, Hyperglycinemia, Myoclonus, Lethargy, Spast... OMIM:614299
Galactokinase Deficiency
Speech apraxia, Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperins... ORPHA:79237
Orthostatic Hypotension 1
Reduced circulating prolactin concentration, Nocturia, Increased blood urea nitrogen, Hypomagnese... OMIM:223360
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to thrive, Let... OMIM:611590
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... ORPHA:199299
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diabetes mellitus, Paresthesia ORPHA:49827
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Decreased serum creat... OMIM:618885
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Diabetes mellitus, Hypogonadotropic hypogonadism, Inc... ORPHA:465508
Hereditary Central Diabetes Insipidus
Lethargy, Diabetes insipidus, Weight loss ORPHA:30925
Tenorio Syndrome
Cerebral palsy, Hypoglycemia, Clumsiness, Enuresis, Gait disturbance, Hypoinsulinemia OMIM:616260
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Ataxia... ORPHA:79282
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Letha... OMIM:251110
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Goiter, Pituitary hypothyroidism... ORPHA:90674
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Tongue fas... OMIM:614922
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Familial Hypoaldosteronism
Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul... ORPHA:427
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Insulin resistance, Abnormal pyram... ORPHA:363400
Marburg Hemorrhagic Fever
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... ORPHA:99826
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Susac Syndrome
Somatic sensory dysfunction, Gait ataxia, Apathy, Lethargy, Upper motor neuron dysfunction ORPHA:838
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Tremor, Decreased serum zinc, Hypogonadism, Lethargy, Decreased serum testosterone concen... OMIM:201100
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... ORPHA:71526
Cyclic Vomiting Syndrome
Lethargy, Ataxia OMIM:500007
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperammonemia, 3-Met... OMIM:246450
Isolated Complex I Deficiency
Increased serum pyruvate, Diabetes mellitus, Ataxia, Hypoglycemia, Proximal tubulopathy, Lethargy... ORPHA:2609
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Hypertonia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-h... OMIM:253270
Benign Samaritan Congenital Myopathy
Lethargy, Fasciculations ORPHA:324581
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc... ORPHA:71529
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Hypospadias, Hypoglycemia, Hypocalcemia, Lethargy, Micropenis, Failure... OMIM:607143
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Multiple Myeloma
Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Abnormality of the bla... ORPHA:29073
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Babinski sign, Tip-toe gait, Hypocalcemia, Leth... ORPHA:746
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Neonatal... ORPHA:79644
Idiopathic Intracranial Hypertension
Lethargy, Obesity, Depression ORPHA:238624
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Unilateral renal agenesis, Methylmalonic aciduria, Elevated circulating palmit... ORPHA:79284
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Impaired temperature sensation, Precocious pub... ORPHA:398079
Leigh Syndrome
Chorea, Choreoathetosis, Complex organic aciduria, Ataxia, Renal tubular dysfunction, Nephrotic s... ORPHA:506
Typhoid
Tremor, Lethargy, Hypertonia, Ataxia ORPHA:99745
Hypothyroidism Due To Tsh Receptor Mutations
Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Elevated circulating thyro... ORPHA:90673
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Cholera
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Hyp... ORPHA:173
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Generalized aminoaciduria, Hy... OMIM:251880
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hypospadias, Ataxia, Hypoglycemia, Babinski sign, Lacticaciduria,... OMIM:252010
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Increased urinary glycerol, Hypoglycemia OMIM:229700
Meningococcal Meningitis
Lethargy, Renal insufficiency, Paresthesia, Elevated circulating C-reactive protein concentration ORPHA:33475
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Abnormal glucose homeostasis, Lethargy, Hyperglycemia ORPHA:391673
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... ORPHA:447
Staphylococcal Necrotizing Pneumonia
Lethargy, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Increased cir... ORPHA:36238
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ... OMIM:614736
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ataxia, Abnormal pyramidal sign, Ethylmalonic aciduria, Lethargy, Failure to thrive OMIM:201470
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Hereditary Fructose Intolerance
Renal insufficiency, Reactive hypoglycemia, Chronic kidney disease, Hypermagnesemia, Hyperuricemi... ORPHA:469
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Biotinidase Deficiency
Lethargy, Organic aciduria, Ataxia, Hyperammonemia OMIM:253260
Thyroid Dyshormonogenesis 1
Lethargy, Hypothyroidism, Goiter OMIM:274400
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus ORPHA:791
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Impaired temperature sensation, Precocious puberty, Increased body weight, Ab... ORPHA:398069
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ... ORPHA:280356
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Com... OMIM:557000
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Increased urinary glycerol, Hypertriglyceridemia, Small for gestationa... OMIM:307030
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Babinski sign, Limb tremor, Choreoathetosis, Athetosis... OMIM:608643
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Ataxia, Hypogly... ORPHA:3008
Multifocal Atrial Tachycardia
Lethargy, Hypothyroidism ORPHA:3282
Transcobalamin Ii Deficiency
Lethargy, Failure to thrive, Ataxia, Methylmalonic aciduria OMIM:275350
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Lethargy OMIM:604377
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Scrub Typhus
Tremor, Lethargy, Renal insufficiency ORPHA:83317
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Biotinidase Deficiency
Ataxia, Hyperammonemia, Organic aciduria, Spastic paraparesis, Lethargy ORPHA:79241
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small for gestational age, Hypospadias, Conjugated hyperbilirubinemia, Elevated circulating phyta... OMIM:614866
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... ORPHA:69076
Ogden Syndrome
Lethargy, Torticollis, Hypertonia, Shuffling gait ORPHA:276432
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Lethargy OMIM:618321
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop... OMIM:620306
Perlman Syndrome
Hypoplasia of penis, Hyperinsulinemia, Nephroblastoma ORPHA:2849
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity OMIM:620195
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity ORPHA:3085
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... ORPHA:90038
Cirrhosis, Familial
Increased level of propylene glycol in blood, Lethargy, Increased level of L-fucose in urine OMIM:215600
Medulloblastoma
Ataxia, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxia associated with qua... ORPHA:616
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Urinary incontinence, Rigidity, Babinski sign, Abnormal pyramidal s... ORPHA:306674
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr... OMIM:203800
Dengue Fever
Lethargy, Hypoproteinemia ORPHA:99828
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Pseudo-Torch Syndrome 2
Lethargy, Abnormal renal corticomedullary differentiation OMIM:617397
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypo... OMIM:246200
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... OMIM:218700
Encephalitis Lethargica
Tremor, Lethargy, Parkinsonism, Urinary incontinence ORPHA:83600
Evans Syndrome
Lethargy ORPHA:1959
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Insulin resistance, Hyper... ORPHA:528
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le... ORPHA:1227
Histiocytoid Cardiomyopathy
Hypoglycemia, Renal cyst, Hemiplegia, Lethargy, Failure to thrive ORPHA:137675
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... OMIM:233450
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hemiparesis, Lethargy, Failure to thrive OMIM:620233
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney dis... OMIM:608612
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,... ORPHA:300373
Semilobar Holoprosencephaly
Abnormal central motor function, Diabetes insipidus, Decreased response to growth hormone stimula... ORPHA:220386
Alobar Holoprosencephaly
Abnormal central motor function, Diabetes insipidus, Decreased response to growth hormone stimula... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal central motor function, Diabetes insipidus, Decreased response to growth hormone stimula... ORPHA:93926
Lobar Holoprosencephaly
Abnormal central motor function, Diabetes insipidus, Decreased response to growth hormone stimula... ORPHA:93924
Amoebiasis Due To Free-Living Amoebae
Ataxia, Hemiparesis, Intrarenal abscess, Abnormality of the adrenal glands, Lethargy ORPHA:68
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Trichinellosis
Babinski sign, Hemiparesis, Apathy, Hemiplegia, Lethargy ORPHA:863
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphat... ORPHA:466650
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes mellitus, Insulin resistance, Hyper... ORPHA:79086
Leprechaunism
Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephroc... ORPHA:508
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Prader-Willi Syndrome
Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to growth hormone... OMIM:176270
Liver Disease, Severe Congenital
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... OMIM:619991
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... ORPHA:442835
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive ORPHA:1329
Ebola Hemorrhagic Fever
Lethargy ORPHA:319218
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin resistance, Hyp... OMIM:613327
Diamond-Blackfan Anemia
Renal agenesis, Small for gestational age, Hypospadias, Horseshoe kidney, Lethargy ORPHA:124
Hydranencephaly
Lethargy, Atrophic pituitary gland, Spastic diplegia, Opisthotonus ORPHA:2177
Glycine Encephalopathy
Lethargy, Hyperglycinemia ORPHA:407
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... OMIM:248370
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st... ORPHA:3464
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Atypical Werner Syndrome
Renal neoplasm, Decreased body weight, Hypertriglyceridemia, Diabetes mellitus, Abnormal circulat... ORPHA:79474
Eisenmenger Syndrome
Renal insufficiency, Elevated circulating C-reactive protein concentration, Hyperuricemia, Abnorm... ORPHA:97214
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Dysmetria OMIM:620185
Lipodystrophy, Congenital Generalized, Type 1
Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Nephrolithiasi... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Hyperinsulinemia, Nephroli... OMIM:269700
Pineoblastoma
Lethargy, Paralysis ORPHA:251909
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic ... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic ... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic ... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic ... ORPHA:99226
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Pmm2-Cdg
Proteinuria, Ataxia, Abnormality of coordination, Hypogonadotropic hypogonadism, Elevated circula... ORPHA:79318
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter