Gene Summary

Name:
Ral GTPase activating protein, alpha subunit 1
Synonyms:
Tulip1,  4930400K19Rik,  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
limb grasping Ralgapa1em1(IMPC)J HET Early adult 4.26×10-05
abnormal locomotor behavior Ralgapa1em1(IMPC)J HET Early adult 2.46×10-05
hyperactivity Ralgapa1em1(IMPC)J HET Early adult 7.11×10-07
decreased exploration in new environment Ralgapa1em1(IMPC)J HET Early adult 8.17×10-06

Download data as:  TSV  XLS

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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
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Diabetes mellitus OMIM:608320
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... OMIM:615703
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Hepatic steatosi... OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Loss ... ORPHA:280356
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased adi... OMIM:608600
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus, Lipodystrophy, Hypertriglyceridemia OMIM:246650
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl... OMIM:617885
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Schizophrenia 15
Hyperactivity OMIM:613950
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia OMIM:619175
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:71526
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased a... ORPHA:435660
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... OMIM:619868
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:151660
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... ORPHA:71212
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s... ORPHA:528
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... ORPHA:171706
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Spinocerebellar Ataxia 14
Mental deterioration, Depression, Memory impairment, Gait ataxia, Dysmetria, Attention deficit hy... OMIM:605361
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu... ORPHA:363400
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for... ORPHA:276556
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes... OMIM:615812
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Depression, Difficulty walking, Dysmetria, Attention deficit hyperactivity ... OMIM:619191
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... ORPHA:79237
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... OMIM:616222
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... ORPHA:75234
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... OMIM:616516
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I... OMIM:618620
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis ORPHA:79087
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph... ORPHA:263455
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Emotional lability, Episodic ataxia OMIM:234500
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Unsteady gait, Compulsive behaviors, Dystonia OMIM:301107
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Lipodystrophy, Pancreatitis, Los... ORPHA:2348
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity OMIM:618406
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... OMIM:605814
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Overgrowth, Lipodystrophy, Increased adipose tissue ORPHA:199276
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Tremor, Hyperactivity, Ataxia, Dystonia OMIM:615924
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, A... ORPHA:77296
Laron Syndrome
Hypoglycemia, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality of the endocrin... ORPHA:633
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... OMIM:607616
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Increased LDL cholestero... OMIM:278000
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Irritab... ORPHA:3077
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Failure to thrive OMIM:610768
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... ORPHA:209902
Dysbetalipoproteinemia
Acute pancreatitis, Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglycer... ORPHA:412
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity ORPHA:369873
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ... ORPHA:2088
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Dementia, Dystoni... ORPHA:248111
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... OMIM:603471
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:248370
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... ORPHA:96184
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, Ta... OMIM:608594
Perlman Syndrome
Abnormal pancreas morphology, Tall stature, Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Femo... ORPHA:2849
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Increa... ORPHA:280365
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... OMIM:603552
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Tremor, Dysmetria, Gait disturbance, Hyperactivity OMIM:618090
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Tall stature, Hyperins... OMIM:269700
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertensi... ORPHA:79319
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... OMIM:613327
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating hepatic transaminase ... ORPHA:94086
Familial Chylomicronemia Syndrome
Acute pancreatitis, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl... ORPHA:444490
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa... OMIM:300635
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Irritability, Aggressive behavior, Hyperactivity ORPHA:2382
Landau-Kleffner Syndrome
Depression, Memory impairment, Gait ataxia, Emotional lability, Short attention span, Aggressive ... ORPHA:98818
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... OMIM:232400
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Overweight, Hypercholesterolemia ORPHA:401923
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:382
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Hyperactivity, Tremor, Ataxia OMIM:300983
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepato... OMIM:619013
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... OMIM:615558
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... OMIM:615954
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... OMIM:615516
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemi... OMIM:602579
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... ORPHA:247598
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... ORPHA:263501
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, T... ORPHA:73272
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Tremor, Paroxysmal bursts of laughter, Hyper... OMIM:618718
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decreased circulat... OMIM:600955
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s... ORPHA:98855
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... OMIM:214900
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Increased bod... ORPHA:890
Smith-Magenis Syndrome
Increased body weight, Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Panniculitis, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive OMIM:601410
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Type II diabetes mellitus, Hyperlipidemia, Hepatic ste... ORPHA:91
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con... OMIM:615947
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s... ORPHA:98853
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe... OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level, Flexion contracture OMIM:618856
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... OMIM:214150
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Neonatal cholestati... ORPHA:1414
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypertriglyce... OMIM:617575
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Chr... OMIM:203800
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Calcinosis ORPHA:90154
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy... OMIM:615830
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:620603
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Lipodys... OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Tangier Disease
Hypertriglyceridemia, Splenomegaly, Elevated circulating apolipoprotein A-II concentration, Decre... OMIM:205400
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur... ORPHA:90674
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f... ORPHA:158057
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Glucose intolerance, Ab... ORPHA:785
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... ORPHA:1501
Werner Syndrome
Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:277700
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... ORPHA:189427
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Decreased a... OMIM:606721
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... ORPHA:567548
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dystonia, Dysphagia, Impulsivity ORPHA:500180
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Gaisböck Syndrome
Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinem... ORPHA:90041
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased response to growth hormone stimulation test, Obesity, Hyperbilirubinemia, ... OMIM:609734
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Smith-Magenis Syndrome
Precocious puberty, Failure to thrive in infancy, Obesity, Hypothyroidism, Hypercholesterolemia, ... ORPHA:819
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Prader-Willi Syndrome
Precocious puberty, Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive... OMIM:176270
Short Syndrome
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Weight loss, Lipodystroph... ORPHA:3163
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Hypoglycemia, Polysplenia, Exocri... OMIM:619418
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... OMIM:610717
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... ORPHA:158061
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Hypothyroidism, Hypercholesterolemia ORPHA:90065
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Monosomy 13Q34
Insulin resistance, Obesity, Hypercalcemia, Hepatic steatosis ORPHA:96168
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient... ORPHA:156
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia ORPHA:90153
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Inguinal hernia, Bi... ORPHA:3191
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr... OMIM:603553
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:275761
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Abnormal circulating lipid concentration, Inguinal hernia, Hypothyroidism, Tr... OMIM:616541
H Syndrome
Hypogonadism, Hepatosplenomegaly, Hernia, Lipodystrophy, Delayed puberty, Hypertriglyceridemia, C... ORPHA:168569
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... ORPHA:508
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Hypogonadism, Slender build, Thyroid carcinoma, Type II di... ORPHA:902
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Hypoplastic spleen, Increased circulating ferritin concentration, Hyper... OMIM:619313
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hepatic steatosis, Hyperuricemia, I... ORPHA:79259
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b... OMIM:614450
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... OMIM:616026
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Failure to ... ORPHA:813
Infantile Neuroaxonal Dystrophy
Mental deterioration, Short attention span, Emotional lability, Dystonia, Choking episodes, Gait ... ORPHA:35069
Whipple Disease
Insulin resistance, Splenomegaly, Hyponatremia, Cachexia, Hypothyroidism, Hepatomegaly ORPHA:3452
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Gait ataxia, Emotional lability, Dysmetria, Short attention span, Intention... OMIM:610217
Methanol Poisoning
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia ORPHA:31825
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism, Obesity ORPHA:88643
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... ORPHA:98908
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabetes of the young,... OMIM:609812
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis, Hepatome... ORPHA:470
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Pulmonary... ORPHA:363618
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Progressive... OMIM:610042
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Hypogonadism, Obesity, Biliary tract abnormality, Nephrogen... OMIM:209900
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Xp21 Deletion Syndrome
Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating creatine kinase concen... ORPHA:261476
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Bardet-Biedl Syndrome 20
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Obesity, Pancreatitis... OMIM:619471
Glycerol Kinase Deficiency
Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Hypertrigly... OMIM:307030
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Atypical Werner Syndrome
Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Fai... ORPHA:79474
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula... ORPHA:98907
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Gait imbalance, Short attention span, Abnormal eating b... ORPHA:98794
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Elevated circulating ... OMIM:256040
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance, C... ORPHA:43
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... OMIM:618183
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced haptoglobin level, Elevated circu... OMIM:210250
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Ventral hernia, Hypertrigly... ORPHA:536532
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia, Small for gestational age OMIM:256300
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Obesity, Hypocalcemia, Pseudoh... OMIM:603233
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Inability to walk, Low frustration tolerance, Obsessive-compulsive trait, A... ORPHA:168491
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepat... OMIM:615630
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:620242
Gitelman Syndrome
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Chondrocalcinosis, Graves disease,... ORPHA:358
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Hypercholesterolemia ORPHA:2479
Cntnap2-Related Developmental And Epileptic Encephalopathy
Mental deterioration, Abnormal temper tantrums, Low frustration tolerance, Self-mutilation, Stere... ORPHA:163681
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... OMIM:232200
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h... OMIM:615453
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... ORPHA:449291
Neuhauser Syndrome
Hypercholesterolemia, Primary hypothyroidism OMIM:249310
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Abnormal circulating lipid concentration, Decreased liver functi... ORPHA:77293
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl... ORPHA:465508
Fanconi-Bickel Syndrome
Hypouricemia, Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Failure to thrive... OMIM:227810
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Depression, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Chor... OMIM:612716
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Delayed puberty, Pituitary hypoth... OMIM:614963
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... ORPHA:157
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Glucose intol... OMIM:619127
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... ORPHA:905
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Hyperbilirubinemia, Absent g... OMIM:615710
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria OMIM:618857
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypogonadism, Obesity, Abnormality of the thyroid gland, Eunuchoid habitus, Type II diabetes mell... ORPHA:2234
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus OMIM:610628
Alagille Syndrome 1
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol... OMIM:118450
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... ORPHA:228308
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Mental deterioration, Phonic tics, Depression, Akinesia, Obsessive-compulsive trai... OMIM:234200
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s... OMIM:612462
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, De... ORPHA:110
Bloom Syndrome
Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestatio... ORPHA:125
X-Linked Creatine Transporter Deficiency
Self-mutilation, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:52503
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Memory impairment, Difficulty walking, Inability to walk, Confusion, Short ... ORPHA:139396
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Exocrine ... OMIM:260370
19P13.12 Microdeletion Syndrome
Precocious puberty, Obesity, Hyperlipidemia, Hepatic steatosis, Hypothyroidism, Arthrogryposis mu... ORPHA:254346
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Premature adrenarche, Precocious puberty, Failure to thrive, Decreased respon... ORPHA:96182
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... ORPHA:226313
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Obesity, Hypertriglyceridemia, Hypoparathyroidism, Hypercalcemia ORPHA:369837
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:158048
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... OMIM:232220
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... OMIM:619573
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Steinert Myotonic Dystrophy
Insulin resistance, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Male... ORPHA:273
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... OMIM:619991
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus ORPHA:439232
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose intolerance, Hypokalemia, A... OMIM:219090
Chédiak-Higashi Syndrome
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased circ... ORPHA:167
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Atypical scarring of skin, Abnormal circulating calcium-phosphate regulating... ORPHA:534
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99226
Glycogen Storage Disease Ic
Hypoglycemia, Xanthelasma, Hyperlipidemia, Chronic pancreatitis, Hyperuricemia, Hepatoblastoma, D... OMIM:232240
Choreoacanthocytosis
Mental deterioration, Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of am... ORPHA:2388
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Failure to thrive, Increased circulating prolactin... ORPHA:3455
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Cushing Disease
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... ORPHA:96253
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Failure to thr... OMIM:309000
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Atelis Syndrome 2
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration OMIM:620185
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Pituitary hypothyroidism, Hypoglycemia, Umbilical hernia, Hypopituit... ORPHA:226307
Sotos Syndrome
Tall stature, Glucose intolerance, Increased body weight, Overgrowth, Prolonged neonatal jaundice... OMIM:117550
Alström Syndrome
Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly, Type II diabetes me... ORPHA:64
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase concentration, Pancreatitis, H... ORPHA:565612
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Elevated circulating ala... OMIM:619534
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Hypoplasia o... OMIM:264090
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability, Ataxia OMIM:620047
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Abnormality of thyroid physiology, Hyperlipidemia, Pancreatitis, Small for ges... ORPHA:1830
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure to thrive, Hypogonadis... ORPHA:398069
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Hand tremor ORPHA:99819
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Graves disease, Hypomagnesemia, Obesity, Weight... ORPHA:79102
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Elevated circulating hepatic transaminase concentration, Central hypothyroi... ORPHA:293987
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Severe failure to thrive, Weig... ORPHA:740
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hyperactivity, Hand tremor ORPHA:424
Pmm2-Cdg
Hypoalbuminemia, Hepatic fibrosis, Insulin resistance, Elevated circulating hepatic transaminase ... ORPHA:79318
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Histidinemia
Hyperactivity ORPHA:2157
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis ORPHA:391665
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Increased circulating insulin-like growth fact... ORPHA:1359
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Fabry Disease
Diabetes insipidus, Delayed puberty, Hyperlipidemia, Abnormal circulating lipid concentration ORPHA:324
Hellp Syndrome
Increased body weight, Elevated circulating hepatic transaminase concentration 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

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
Ralgapa1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ralgapa1em1(IMPC)J Exon Deletion Mice
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
Ralgapa1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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