Gene Summary

fatty acid binding protein 2, intestinal
I-FABP,  Fabpi

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
enlarged lymph nodes Fabp2em1(IMPC)Hmgu HOM Early adult 0.00
decreased circulating total protein level Fabp2em1(IMPC)Hmgu HOM Early adult 3.71×10-05
decreased circulating serum albumin level Fabp2em1(IMPC)Hmgu HOM Early adult 3.79×10-05
shortened PR interval Fabp2em1(IMPC)Hmgu HOM   Early adult 8.29×10-05

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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.


XRay Images Whole Body Lateral Orientation

9 Images


XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Fabp2 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fabp2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... ORPHA:71529
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... ORPHA:79085
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... ORPHA:324575
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Hypoproteinemia, Hypoalbuminemia OMIM:600351
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen... OMIM:604367
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... ORPHA:71526
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia OMIM:221400
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... ORPHA:435660
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:276575
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... ORPHA:276580
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Hypoglycemia, Failure to thrive, Hyperinsul... OMIM:606528
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia OMIM:207731
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Incr... ORPHA:79237
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized... OMIM:612526
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Neonatal hypoproteinemia OMIM:152800
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy... ORPHA:528
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Wolff-Parkinson-White syndrome, Shortened PR ... OMIM:232300
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Hypocholesterolemia, Hyper... OMIM:607765
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... ORPHA:276556
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly OMIM:619175
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:608600
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Omenn Syndrome
Lymphadenopathy, Hypoproteinemia, Hypoplasia of the thymus, Splenomegaly OMIM:603554
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypertension, Hypoalbuminemia ORPHA:54370
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Neonatal hypoglycemia, Nephropathy, A... ORPHA:552
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... OMIM:615238
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension, Hypoalbuminemia ORPHA:84090
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Renal Fanconi syndrome, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased h... ORPHA:263455
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Prolonged QT interval, Ventricular tachycardia, Atrioven... ORPHA:26793
Immunodeficiency 27A
Enlarged mesenteric lymph node, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia OMIM:209950
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... OMIM:246700
Thyrotoxic Periodic Paralysis
Hyperkalemia, Prolonged QT interval, Episodic hypokalemia, Palpitations, Mildly elevated creatine... ORPHA:79102
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Hypercholesterolemia, Hypoalbuminemia, Incre... ORPHA:86816
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Abnormal spleen physiology, H... ORPHA:398063
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate c... ORPHA:35878
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, He... ORPHA:103910
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hepatomegaly, Hypocholesterolemia, Steatorrhea OMIM:266510
Ménétrier Disease
Hypoproteinemia, Gastrointestinal hemorrhage, Hypoalbuminemia ORPHA:2494
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Low-output conge... ORPHA:308552
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Lymphadenopathy, Increased total bilirubin, Splenomegaly, Increase... OMIM:603553
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... ORPHA:79086
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Congestive heart failure OMIM:260450
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa... OMIM:602579
Dengue Fever
Cerebral hemorrhage, Hypoproteinemia, Epistaxis, Gastrointestinal hemorrhage, Hypotension ORPHA:99828
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia, Pulmonary embolism, Budd-Chiari syndrome OMIM:226300
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Decreased LDL cholesterol concentration, Hypocholesterolemia, Delayed puberty OMIM:616834
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Aa Amyloidosis
Hepatomegaly, Adrenal insufficiency, Nephrotic syndrome, Acute kidney injury, Cholestasis, Hypoth... ORPHA:85445
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia OMIM:606762
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Hypoplasia of penis, Nephroblastoma... ORPHA:2849
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Increased circulating ferritin concentration, Hypoalbuminemia, Diffuse alveolar hem... OMIM:616050
Histiocytoid Cardiomyopathy
Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventricular tachycardi... ORPHA:137675
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hypoplasia of penis,... ORPHA:791
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... ORPHA:2298
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Abnormal lymphatic vessel morphology, Hypomagnesemia, Intestina... ORPHA:90362
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... ORPHA:79319
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hepatocellular carcinoma, Hyperli... OMIM:232200
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Nephronophthisis 16
Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Cholestasis, Renal insufficiency... OMIM:615382
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function, Hypoalbuminemia OMIM:618805
Tropical Endomyocardial Fibrosis
Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Dec... ORPHA:75565
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepati... ORPHA:71212
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... OMIM:608594
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Long penis, Insulin-resistant diab... OMIM:262190
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Nephrotic syndrome, Failure to thrive, Proximal ... OMIM:212065
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... ORPHA:369
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hepatocellular carcinoma, Hyperli... OMIM:232220
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstiti... OMIM:203800
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Tyrosinemia, Type I
Hepatomegaly, Renal Fanconi syndrome, Hypophosphatemic rickets, Hypoglycemia, Hepatocellular carc... OMIM:276700
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Insulin resistance, Failure to thrive, Elevated circulating creatine kinase concent... OMIM:613327
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... ORPHA:97279
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Long penis, Hyperglycemia, Adipose tissue loss, Precociou... OMIM:246200
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... OMIM:269700
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hypoproteinemia, Splenomegaly, Thyroid lymphangiectasia, Pancreatic l... OMIM:235255
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Lymphadenopathy, Splenomegaly, Hypoalbuminemia ORPHA:507
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... OMIM:263200
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Squalene Synthase Deficiency
Hypospadias, Failure to thrive in infancy, Hypocholesterolemia, Increased circulating farnesol co... OMIM:618156
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Ureteral duplication, Hydronephrosis, Decreased plasma free ... OMIM:608836
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia ORPHA:3085
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia... ORPHA:158061
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Increased hepatocellular lipid droplets, Hepatic steatosi... ORPHA:71
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... ORPHA:75234
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Micropenis, Decreased serum leptin OMIM:614962
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... ORPHA:280365
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Vasculitis, Tran... ORPHA:365
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Hypocholesterolemia, Abnormal renal morphology, Hyp... OMIM:610883
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Cirrhosis, Hyperc... OMIM:605814
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly, Pancreatic lymphan... ORPHA:1655
Cardiomyopathy, Hypoalbuminemia ORPHA:79327
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Elevated circulating creatinine concentration, Pituitary growth hormone cell ad... ORPHA:730
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Renal angiomyolipoma,... ORPHA:276152
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Elevated circulating growth hormone conc... ORPHA:90301
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Gastrointestinal hemorrhage, Hepatosplenome... ORPHA:247598
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Enlarged kidney OMIM:615415
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Hypercalciuria, Long penis, Insulin r... ORPHA:508
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, Torsade de poin... ORPHA:101016
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Gastrointestinal hemorrhage, Hypersplenism, Hypoalbuminemia, Po... ORPHA:64743
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal P wave, Increased circulating troponin T concentration, Inc... ORPHA:85443
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Multiple lipomas, Abnormality of urine h... ORPHA:1414
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Pulmonary embolism, Hypertriglyce... ORPHA:567548
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Tubulointerstitial fibrosis, Ne... ORPHA:79259
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatosplenomegaly, Congestive heart failure, Hypoalbuminemia, Portal hyp... ORPHA:367
Chédiak-Higashi Syndrome
Hypoproteinemia, Hyponatremia, Lymphadenopathy, Epistaxis, Splenomegaly, Increased circulating fe... ORPHA:167
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Portal hypertension, Splenomegaly, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal... ORPHA:88618
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hematochezia, Hypoalbuminemia ORPHA:2070
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Increased hepatic glycogen content, Abnormal hepatic glycogen storage, Hypo... ORPHA:2088
H Syndrome
Abnormality of the kidney, Lipodystrophy, Hernia, Hypogonadism, Hepatosplenomegaly, Micropenis, D... ORPHA:168569
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Refractory Anemia With Excess Blasts
Palpitations, Bone marrow hypocellularity, Abnormal circulating albumin concentration, Abnormal c... ORPHA:86839
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steatorrhea, Portal hyper... OMIM:278000
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia... ORPHA:540
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Hypocholesterolemia, Elevated circulating creatine kinase concentration, Abet... ORPHA:96180
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly, Micropenis OMIM:618810
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Abnormal dental enamel morphology, Increased blood urea nit... ORPHA:251004
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Elevated hepatic iron concentration,... ORPHA:139507
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Failure to thrive, Hypoc... ORPHA:14
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Hyperammonemia, Hypoalbuminemia, Hypotension ORPHA:292
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph... OMIM:617303
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... ORPHA:99106
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Nathalie Syndrome
Abnormal EKG OMIM:255990
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... OMIM:613812
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... ORPHA:785
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Bacterial Toxic-Shock Syndrome
Myocarditis, Shock, Elevated circulating creatine kinase concentration, Elevated circulating crea... ORPHA:36234
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Aicardi-Goutieres Syndrome 9
Hypertension, Pericarditis, Increased blood pressure, Hepatosplenomegaly, Hypoalbuminemia, Portal... OMIM:619487
Hypospadias, Hyponatremia, Hypoalbuminemia, Decreased serum insulin-like growth factor 1, Failure... ORPHA:79324
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... OMIM:619662
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Long penis, Insulin resistance, Insulin... ORPHA:769
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Omphalocele, Hepatic fibrosis, Ascites, Pancreatic fibrosis... OMIM:200995
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Hypouricemia, Hypoglycemia, Nephrocalcinosis, Glycosuria, Large ... OMIM:616026
Pierson Syndrome
Hypoproteinemia OMIM:609049
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con... ORPHA:449395
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Abnormal liver lobulation, Inguina... OMIM:608022
Lymphoid Interstitial Pneumonia
Hepatomegaly, Failure to thrive, Abnormality of connective tissue, Weight loss, Enlarged kidney ORPHA:79128
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Hepatic failure, ... OMIM:235555
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemia, Hematochezia OMIM:618183
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Omphaloc... OMIM:130650
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia ORPHA:542306
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Congestive heart failure, Hypoalbuminemia ORPHA:67
Beckwith-Wiedemann Syndrome
Omphalocele, Hypoglycemia, Congenital megaureter, Neonatal hypoglycemia, Splenomegaly, Nephropath... ORPHA:116
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Thyroid lymphangiectasia, Intestinal lymphangiectasia, Pleural lymphangiectasia, Hypoalbuminemia,... OMIM:235510
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Lymphadenopathy, Elevated circulating creatinine concentration, ... ORPHA:29073
Wolcott-Rallison Syndrome
Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia ORPHA:1667
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonary arterial hypertension, Bone marrow h... ORPHA:505248
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Gaisböck Syndrome
Hypertension, Hyperproteinemia, Elevated diastolic blood pressure, Hyperuricemia, Myocardial infa... ORPHA:90041
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Lymphadenopathy, Hypocalcemia, Splenomegaly, Hypomagnesemia, Hypoalbu... ORPHA:37042
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Marburg Hemorrhagic Fever
Shock, Hyperamylasemia, Pericarditis, Hypokalemia, Subconjunctival hemorrhage, Elevated circulati... ORPHA:99826
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Hyperalaninemia, Hypoalbuminemia OMIM:618329
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Urinary retention, Weight loss, Abnormality of the peritoneum, Neoplasm of the live... ORPHA:2126
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Hyperlipidemia, Abnormal circulating f... ORPHA:567983
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat... ORPHA:209902
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Intraventricular hemorrhage OMIM:619055
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Primary Biliary Cholangitis
Orthostatic hypotension, Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia,... ORPHA:186
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Juvenile Polyposis Syndrome
Hypokalemia, Hematochezia, Hypoalbuminemia OMIM:174900
Increased circulating cortisol level, Primary hyperparathyroidism, Diabetes mellitus, Intrahepati... ORPHA:97282
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Conge... OMIM:310200
Increased circulating cortisol level, Primary hyperparathyroidism, Steatorrhea, Diabetes mellitus... ORPHA:97283
Increased circulating cortisol level, Intestinal carcinoid, Primary hyperparathyroidism, Intrahep... ORPHA:97278
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium... ORPHA:89842
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Pulmonary embolism, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Galloway-Mowat Syndrome 3
Hypertension, Hypoalbuminemia OMIM:617729
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Constrictive pericarditis, Decreased prealbumin level, Reduced circula... ORPHA:90363
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Woodhouse-Sakati Syndrome
Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Decreased serum estradiol, Hyp... ORPHA:3464
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Hyperproteinemia, Pericarditis, Retinal hemorrhage, Subconjunctival hemorrhage, Lymphadenopathy, ... ORPHA:509
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Aortic regurgitation, Pulmonic stenosis, H... OMIM:222470
Rett Syndrome
Failure to thrive, Hyperammonemia, Increased serum leptin, Cholecystitis, Increased serum pyruvate ORPHA:778
Atypical Werner Syndrome
Type II diabetes mellitus, Chondrocalcinosis, Abnormality of circulating leptin level, Insulin-re... ORPHA:79474
Smith-Lemli-Opitz Syndrome
Hypospadias, Renal hypoplasia, Hydronephrosis, Renal agenesis, Elevated 7-dehydrocholesterol, Fai... OMIM:270400
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Tangier Disease
Left ventricular hypertrophy, Hepatosplenomegaly, Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Hepatomegaly, Omphalocele, Hydronephrosis, Abnormal renal artery morphology, Hepatic cysts, Lipod... ORPHA:79328
Prader-Willi Syndrome
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Hypogonadotropic ... OMIM:176270
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypokalemia, Budd-Chiari syndrome, Hyperbilirubinemia, Hypoalbuminem... ORPHA:88673
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia OMIM:602450
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Hypospadias, Adrenal hypoplasia, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged kidney OMIM:612651
Primary Sclerosing Cholangitis
Spider hemangioma, Splenomegaly, Hepatosplenomegaly, Congestive heart failure, Palmar telangiecta... ORPHA:171
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Nephroblastoma, Multiple lipomas, Enlarged kidney ORPHA:276280
Juvenile Polyposis Syndrome
Hypoproteinemia, Epistaxis, Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension, Ex... ORPHA:2929
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal spleen morphology, Splenomegaly, Hepatosplenomegaly, Multiple renal cy... ORPHA:464329
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymph node hypoplasia, Increased circulating inosine concentration, Splenomegaly, C... OMIM:613179
Juvenile Polyposis Of Infancy
Melena, Gastrointestinal hemorrhage, Intestinal bleeding, Hypoalbuminemia, Hematochezia ORPHA:79076
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... OMIM:238600
Turner Syndrome Due To Structural X Chromosome Anomalies
Hashimoto thyroiditis, Hyperlipidemia, Atypical scarring of skin, Ectopic kidney, Type II diabete... ORPHA:99413
Turner Syndrome
Hashimoto thyroiditis, Hyperlipidemia, Atypical scarring of skin, Ectopic kidney, Type II diabete... ORPHA:881
Mosaic Monosomy X
Hashimoto thyroiditis, Hyperlipidemia, Atypical scarring of skin, Ectopic kidney, Type II diabete... ORPHA:99228
Monosomy X
Hashimoto thyroiditis, Hyperlipidemia, Atypical scarring of skin, Ectopic kidney, Type II diabete... ORPHA:99226
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... ORPHA:2041
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
Glycogen Storage Disease Ic
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hepatocellular carcinoma, Hyperli... OMIM:232240
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... ORPHA:453533
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Hypokalemia, Palpitations, ST ... ORPHA:358
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Hypokalemia, Decreased circulating renin ... ORPHA:231625
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Lymphadenopathy, Vasculitis in the skin, Splenomegaly, Hypoalbuminemia, Elevated c... OMIM:619381
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Large for gestational age, Bifid ureter, Multicystic kidney dysplasia, Camptod... ORPHA:500095
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Alström Syndrome
Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concent... ORPHA:64
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... ORPHA:1329
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Secondary hyperparathyro... ORPHA:273
Rajab Interstitial Lung Disease With Brain Calcifications 1
Portal hypertension, Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Aortic regurgitation, Pulmonary arterial hypertension, Elevated circulating ... OMIM:619534
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Meacham Syndrome
Horseshoe kidney, Aplasia of the left hemidiaphragm, Enlarged kidney, Accessory spleen, Aplasia o... OMIM:608978
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Lipoatrophy, Decreased serum leptin, Flexion contracture OMIM:614008
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Abnormal EKG, Reduced ejection fraction, Righ... ORPHA:268
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Elevated circulating creatine kinase concentration, Elevated circulating a... ORPHA:480864
Congenital Aortic Valve Stenosis
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Increased QRS voltage, Abnormal puls... ORPHA:3093
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hepatomegaly, Hydronephrosis, Right ventricular hypertrophy, Congenital diaphragmati... OMIM:312870
Multiple joint contractures, Hepatic fibrosis, Nephrotic syndrome, Insulin resistance, Failure to... ORPHA:79318
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Abnormal T-wave, Elevated circulating C-reactive protein conc... ORPHA:70591
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart failure OMIM:229300
Abnormal EKG, Abnormality of the spleen, T-wave inversion ORPHA:1666
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG, Hepatosplenomegaly ORPHA:93400
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Weight loss, Absence of subcutaneous fat, Severe failure to thrive, Decreased... ORPHA:740
Cardiac Diverticulum
Premature ventricular contraction, Syncope, Tricuspid stenosis, Palpitations, Ventricular tachyca... ORPHA:1686
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia, Hemolytic-uremic syndrome, Recurrent urinary tract in... ORPHA:2968
Absence Of The Pulmonary Artery
Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Pulmonary arterial hyperte... ORPHA:980
African Trypanosomiasis
Myocarditis, Third degree atrioventricular block, Pericarditis, Lymphadenopathy, Splenomegaly, Se... ORPHA:3385
Friedreich Ataxia And Congenital Glaucoma
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Con... OMIM:229310
Friedreich Ataxia 2
Concentric hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart f... OMIM:601992
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Concentric hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart f... OMIM:302900


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.

Phenotype Allele Zygosity Sex Life Stage
Spleen - MPATH diagnostic term myeloid hyperplasia Fabp2em1(IMPC)Hmgu HOM Early adult
Spleen - MPATH diagnostic term myoepithelial hyperplasia Fabp2em1(IMPC)Hmgu HOM Early adult
Spleen - hyperplasia Fabp2em1(IMPC)Hmgu HOM Early adult

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 Fabp2.

No publications found that use IMPC mice or data for Fabp2.

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MGI Allele Allele Type Produced
Fabp2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fabp2em1(IMPC)Hmgu Exon Deletion Mice

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