Gene Summary

Name:
Ral GTPase activating protein, alpha subunit 1
Synonyms:
4930400K19Rik,  Tulip1,  2310003F20Rik,  Garnl1

IMPC Data Collections

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
preweaning lethality, complete penetrance Ralgapa1em1(IMPC)J HOM   Early adult 0.00
hyperactivity Ralgapa1em1(IMPC)J HET Early adult 6.58×10-07

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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.

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Ralgapa1 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 Ralgapa1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
OMIM:618797

The table below shows human diseases predicted to be associated to Ralgapa1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ... OMIM:232700
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes mellitus, Chil... ORPHA:71529
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet... OMIM:615703
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatom... OMIM:612526
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, A... OMIM:615980
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Hepatic fibrosis, Hypertriglyceridemia, Loss of... ORPHA:280356
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I... OMIM:606721
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Pancreatitis, Type II diabetes mellitus OMIM:246650
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder OMIM:245570
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Truncal obesity, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Hyperuricemia, ... OMIM:604367
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Incr... ORPHA:435660
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71526
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly OMIM:619175
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, Hepatomegaly, Hypertr... OMIM:615238
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabete... ORPHA:436182
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hepatomegaly, Pancreatitis,... ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, He... ORPHA:435651
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Overweight, Flexion contracture, Hype... OMIM:616222
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... OMIM:151660
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Elevated hepati... ORPHA:71212
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Adipose... ORPHA:528
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Reduced intraabdominal adipos... ORPHA:363400
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elbow flexion contractu... OMIM:616516
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Exocrine pancreatic insufficiency... ORPHA:552
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Flexion contracture, Lipody... OMIM:615381
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia, Failure to thrive OMIM:615863
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Analbuminemia
Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy, Hypoalbumine... OMIM:616000
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Niemann-Pick Disease, Type B
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Decreased HDL cholesterol concentration, Increa... OMIM:607616
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hyperinsuline... ORPHA:263455
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... OMIM:616828
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Sotos Syndrome 3
Hyperactivity OMIM:617169
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Type II diabetes mellitus, Decreased HDL cholester... OMIM:618620
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Obesity ORPHA:254531
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Hepatomegaly, Hype... ORPHA:2348
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hyperuricemia, ... ORPHA:79083
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal circul... ORPHA:79086
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Glucose intolerance, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi... OMIM:613027
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Overgrowth, Increased adipose tissue, Hyperlipidemia ORPHA:199276
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Overweight, Elevated hepatic transaminase, Hypoketotic hypoglycemi... ORPHA:26793
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypoglycemia, Adrenal insufficiency, Hypertriglyceridemia, Small for g... OMIM:307030
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Truncal obesity, Delayed puberty, Abnormality of the endocrin... ORPHA:633
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hypersplenism, Cirrhosis, Increased hepatic echogenicity, Acute hepatic fai... OMIM:278000
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Flexion contracture, Increased adipose tissue aroun... OMIM:248370
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Pancreatitis, Splen... ORPHA:90970
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Hepatocellular carcinoma, Ele... ORPHA:2088
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hepatic steatosis, Hypothyroidism, Acute pancreatitis, Hepatom... ORPHA:412
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Increased intraabdominal fat, Decreased serum leptin, Insulin resistanc... ORPHA:280365
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Jaundice, Hypertriglyceridemia, Splen... OMIM:603552
Perlman Syndrome
Hyperinsulinemia, Tall stature, Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas ... ORPHA:2849
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Flexion c... OMIM:613327
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Hepati... OMIM:602579
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Small for gestational age, Hypoalbuminemia,... ORPHA:86816
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young, Truncal obesity, Small for gestationa... ORPHA:96184
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Elevated hepatic transaminase, Hyperinsulinemia, Hepatic steat... OMIM:608594
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carc... ORPHA:369
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:264580
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Adrenal hypoplasia, Hyperbilirubinemia, Decreased response to growth hormo... OMIM:609734
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Cholesta... OMIM:246200
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Fail... ORPHA:2089
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Elevated hepatic transaminase, Hyperinsulinemia, Hepatic steat... OMIM:269700
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:370
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Recurrent pancreatitis, Acute pancreatitis, Jaundice, H... ORPHA:444490
Alstrom Syndrome
Elevated hepatic transaminase, Hyperinsulinemia, Chronic active hepatitis, Hypergonadotropic hypo... OMIM:203800
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Hepatitis, Sple... OMIM:300635
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Overweight, Type II diabetes mellitus ORPHA:401923
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Elevated hepatic transaminase, ... ORPHA:247585
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... OMIM:207750
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hypertriglyceridemia, Cholelithiasis OMIM:177000
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Hypopituitarism, Hypertriglycer... OMIM:619013
Smith-Magenis Syndrome
Hypercholesterolemia, Abnormality of the thyroid gland, Hypertriglyceridemia, Increased body weight OMIM:182290
Nephrotic Syndrome, Type 14
Hypothyroidism, Hypoglycemia, Hypertriglyceridemia, Adrenal insufficiency, Hypoalbuminemia, Hypog... OMIM:617575
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Neonatal hyperbilirubinemia, Small for gestati... ORPHA:73272
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Lcat Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly ORPHA:650
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Elevated circulating... OMIM:232400
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98855
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis, Splenomegaly OMIM:618398
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Truncal obesity, Abdominal obesity OMIM:615812
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Bradykinesia, Oculogyric crisis, Attention deficit hyperactivity disorder, Broad-based ... OMIM:617384
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Tall stature, Type II diab... ORPHA:91
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98863
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Calcinosis, Delayed puberty, Generalized lipodystrophy, Hyperlipidemia ORPHA:90154
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Jaundice, Pancreatitis, Sp... OMIM:238600
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98853
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Increased body weight, Dorsocervi... OMIM:615830
Cog4-Cdg
Hypercholesterolemia, Cirrhosis, Fatal liver failure in infancy, Elevated hepatic transaminase, F... ORPHA:263501
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body ... ORPHA:890
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Flexion contracture, Panniculitis, Lipodystrophy, Hepatomegaly, Hy... OMIM:617591
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:618858
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Impaired glucose tolerance,... ORPHA:769
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia... ORPHA:567548
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decre... ORPHA:90674
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Hyperostosis Frontalis Interna
Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:606176
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Abnormal circulating ... ORPHA:1501
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Weight loss, Inguinal herni... ORPHA:3163
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity OMIM:600955
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Biliary tract abnormality, Inguinal hernia, Type II dia... ORPHA:3191
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia, Hypothyroidism, Hypopituitarism ORPHA:90065
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin-resistant diabetes mellitus, Insulin r... ORPHA:90301
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Smith-Magenis Syndrome
Hypercholesterolemia, Hypothyroidism, Failure to thrive in infancy, Hypertriglyceridemia, Delayed... ORPHA:819
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly, Elevate... OMIM:255120
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Monosomy 13Q34
Infantile hypercalcemia, Hepatic steatosis, Obesity, Insulin resistance ORPHA:96168
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Pos... ORPHA:508
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Hyperlipidemia, Insulin resistance ORPHA:90153
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Joint contracture of the hand, Obesity OMIM:264010
H Syndrome
Camptodactyly, Lipodystrophy, Hypertriglyceridemia, Delayed puberty, Hernia, Diabetes mellitus, H... ORPHA:168569
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Hypothyroidism, Abnormal circulating lipid concentration, Truncal obesity, In... OMIM:616541
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Fatal liver failure in infancy, Microvesicular hepatic steatos... ORPHA:275761
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Glycosuria, Hepatomegaly, Large for gestational age, Diabetes mellitus OMIM:616026
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Omphalocele, Impaired sensitivity to thyroid hormone, Congenital hypothyro... OMIM:614450
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Placental Insufficiency
Small for gestational age, Insulin resistance ORPHA:439167
Sitosterolemia 1
Hypercholesterolemia, Abnormality of the liver, Splenomegaly, Hyperapobetalipoproteinemia, Elevat... OMIM:210250
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic failure, Transient hyperlipidemia ORPHA:156
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Elevated circulating creatin... ORPHA:230
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Elevate... OMIM:603553
Whipple Disease
Insulin resistance, Hypothyroidism, Hyponatremia, Hepatomegaly, Cachexia, Splenomegaly ORPHA:3452
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Xanthelasma, Hypercholesterolemia, Increased hepatic glycogen content, Hep... ORPHA:79259
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Elevated hepatic transaminase, Hepatomegaly, Jaundi... ORPHA:540
Central Precocious Puberty
Increased circulating gonadotropin level, Overgrowth, Isosexual precocious puberty, Increased bod... ORPHA:759
Histidinemia
Hyperactivity ORPHA:2157
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Failure to thrive in infancy, Cachexia, Recurrent hypog... ORPHA:813
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia, Pulmonary carcinoid tumor, Abnormality o... ORPHA:363618
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... ORPHA:3464
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Obesity OMIM:234350
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Hypoalbuminemia, Obesity ORPHA:88643
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Werner Syndrome
Slender build, Insulin resistance, Chondrocalcinosis, Lipodystrophy, Lipoatrophy, Thyroid carcino... ORPHA:902
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Elevated p... ORPHA:470
Xp21 Deletion Syndrome
Primary adrenal insufficiency, Hypertriglyceridemia, Adrenal insufficiency, Elevated circulating ... ORPHA:261476
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Abnormality of the peritoneum, Reduced C-peptide level, Neoplasm of the... ORPHA:2126
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Chronic pancre... ORPHA:98908
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphos... OMIM:603233
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Flexion contracture of finger, Elevated hepatic transaminase, Adipose ti... OMIM:256040
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Umbilical hernia, Hypertriglyceridemia, Inguinal hernia, Ventral hernia, Diabetes mel... ORPHA:536532
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Prolonged neonatal jaundice... ORPHA:99832
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplastic spleen, Hypoplasi... OMIM:619313
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran... ORPHA:98907
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Maternal diabetes, Glucose intolerance, Graves disease, Chondrocal... ORPHA:358
Temple Syndrome
Decreased response to growth hormone stimuation test, Small for gestational age, Type II diabetes... ORPHA:254516
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Microtriplication 11Q24.1
Hyperlipidemia, Obesity ORPHA:289522
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Primary hypothyroidism OMIM:249310
Bardet-Biedl Syndrome 2
Hypogonadism, Diabetes mellitus, Obesity OMIM:615981
Leptin Receptor Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Decreased response to growth hormone st... OMIM:614963
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hypothy... ORPHA:465508
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Impaired glucose tolerance, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hep... OMIM:615630
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Chondrocalcinosis, Abnormality of circulating leptin ... ORPHA:79474
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Obesity OMIM:248100
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism ORPHA:2479
Retinitis Pigmentosa 71
Elevated hepatic transaminase, Pancreatitis, Obesity OMIM:616394
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Niemann-Pick Disease Type B
Cirrhosis, Decreased serum insulin-like growth factor 1, Abnormal circulating lipid concentration... ORPHA:77293
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypothyroidism, Small for gestational age, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Prader-Willi Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimuation test, Failure to thrive in infa... OMIM:176270
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Glucose intolerance, Elevated hemoglobin A1c, Macrovesicular hepat... OMIM:619127
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity OMIM:610628
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hypothyroidism, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Alagille Syndrome 1
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Reduced number of intrahepatic bi... OMIM:118450
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypogonadism, Eunuchoid habitus, Obe... ORPHA:2234
Gand Syndrome
Hyperactivity OMIM:615074
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma total carnitine, Hypoketotic hypoglycemia, Decreased plasma free carnitine, Hepa... ORPHA:157
Mitchell-Riley Syndrome
Hyperglycemia, Annular pancreas, Biliary atresia, Hyperbilirubinemia, Cholestasis, Pancreatic hyp... OMIM:615710
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Reduced subcutaneous adipose tissue, Hype... OMIM:609069
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Hypoparathyroidism, Precocious puberty, Obesity ORPHA:369837
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria OMIM:618857
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH... OMIM:300888
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Premature adrenarche, Small for gestational age, Failur... ORPHA:96182
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Glycogen Storage Disease Ia
Xanthelasma, Elevated hepatic transaminase, Hepatocellular carcinoma, Hyperuricemia, Hypoglycemia... OMIM:232200
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Bloom Syndrome
Insulin resistance, Adipose tissue loss, Small for gestational age, Abdominal obesity, Diabetes m... ORPHA:125
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circul... OMIM:612462
Steinert Myotonic Dystrophy
Hypercholesterolemia, Male hypogonadism, Hyperinsulinemia, Elevated hepatic transaminase, Insulin... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Cirrhosis, Increased circulating gonadotropin level, Elevated hepatic transaminase, Glucose intol... ORPHA:99413
Turner Syndrome
Cirrhosis, Increased circulating gonadotropin level, Elevated hepatic transaminase, Glucose intol... ORPHA:881
Mosaic Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Elevated hepatic transaminase, Glucose intol... ORPHA:99228
Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Elevated hepatic transaminase, Glucose intol... ORPHA:99226
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Hypocholesterolemia ORPHA:31150
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Hepatic steatosis, Hypoketotic hypoglycemia, Decreased plasma f... ORPHA:228308
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Glycogen Storage Disease Ib
Xanthelasma, Elevated hepatic transaminase, Hepatocellular carcinoma, Hyperuricemia, Hypoglycemia... OMIM:232220
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Elevated hepatic transaminase, Hyp... ORPHA:167
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circul... OMIM:103580
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hepatic steatosis, Hypothyroidism, Hyperlipidemia, Precocious... ORPHA:254346
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH le... OMIM:219090
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Lipoatrophy, Absence of subcutaneous fat, Hypertriglyceridemia, Failure to t... OMIM:264090
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:1929
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Glycogen Storage Disease Ic
Xanthelasma, Chronic pancreatitis, Hepatocellular carcinoma, Hyperuricemia, Hypoglycemia, Hepatom... OMIM:232240
Senior-Loken Syndrome 9
Hepatic fibrosis, Hypogonadism, Obesity, Cholestasis OMIM:616629
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Sheehan Syndrome
Gonadotropin deficiency, Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91355
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypercholesterolemia, Hypoammonemia, Abnormal dental enamel morphology, Abnorma... ORPHA:534
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity OMIM:300958
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Fragile X Syndrome
Hyperactivity OMIM:300624
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Wiedemann-Rautenstrauch Syndrome
Slender build, Camptodactyly of finger, Congenital generalized lipodystrophy, Hepatic steatosis, ... ORPHA:3455
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Obesity OMIM:264120
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia ORPHA:439232
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Overweight, Decreased circulating follicle ... ORPHA:226307
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Elevated hepatic transaminase, Hypertriglyceridemia... ORPHA:2442
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Elevated circulatin... OMIM:241080
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Ataxia, Hyperactivity OMIM:614104
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Premature pubarche, Flexion contracture, Central hypothyroidism, Hypothalamic ... ORPHA:398069
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity ORPHA:369939
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Camptodactyly... OMIM:309000
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Umbilical hernia, Overgrowth, Small for gestational age, Large for gestational age ORPHA:254534
Combined Deficiency Of Factor V And Factor Viii
Hyperuricemia, Hyperlipidemia ORPHA:35909
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Splenomegaly, Elevated circulating creatine kinase concentration, Dia... ORPHA:565612
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity ORPHA:530983
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Contractures of the joints of the lower limbs, Weight loss, G... ORPHA:99885
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Graves disease, Postprandial hyperglycemia, Mildly... ORPHA:79102
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Absence of secondary sex characteristics, Hypothalamic gonadotropi... ORPHA:2235
Hutchinson-Gilford Progeria Syndrome
Decreased serum leptin, Insulin resistance, Pubertal developmental failure in females, Absence of... ORPHA:740
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Elevated hepatic transaminase, Abnormality of the hypothalamus-pituitary... ORPHA:293987
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Failure to thrive, Pancreatitis, Abnormality of thyroid physiology, Hy... ORPHA:1830
Pmm2-Cdg
Elevated circulating growth hormone concentration, Elevated hepatic transaminase, Hyperinsulinemi... ORPHA:79318
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia, Hepatic steatosis ORPHA:391665
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Gait imbalance, Ataxia, Hyperactivity ORPHA:98794
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Hyperactivity OMIM:103050
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Pseudohypoparathyroidism, Decreased response to growth hormone stimuation test, Con... ORPHA:280651
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Neonatal hypoglycemia, Pseudohypoparathyroidism, Hypothyroidis... ORPHA:116
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity OMIM:300486
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Obesity ORPHA:34527
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Aplasia of the left hemidiaphragm, Biliary atresia, Umbilical hernia, Glycosuria, ... OMIM:600001
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Digeorge Syndrome
Hypocalcemia, Decreased circulating parathyroid hormone level, Hypothyroidism, Umbilical hernia, ... OMIM:188400
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Fabry Disease
Diabetes insipidus, Delayed puberty, Hyperlipidemia, Abnormal circulating lipid concentration ORPHA:324
Hellp Syndrome
Increased body weight, Elevated hepatic transaminase ORPHA:244242
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
OMIM:618797

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 Ralgapa1

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 Ralgapa1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Targeting RalGAPα1 in skeletal muscle to simultaneously improve postprandial glucose and lipid control. Science advances (April 2019) Ralgapa1tm2a(KOMP)Wtsi PMC6459767

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MGI Allele Allele Type Produced
Ralgapa1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ralgapa1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ralgapa1em1(IMPC)J Exon Deletion Mice

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