Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:
fatty acid binding protein 4, adipocyte
Synonyms:
422/aP2,  ALBP/Ap2,  Ap2,  Lbpl

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Fabp4 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 Fabp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance ORPHA:140941
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314811
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Insulin resistance OMIM:617885
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Hypercholesterolemia, Diabetes mellitus, Ty... ORPHA:181393
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... OMIM:262700
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Insulin resistance, Type II diabetes mellitus, Hypercholesterolemia OMIM:615703
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance OMIM:614662
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... ORPHA:171706
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Multiple Symmetric Lipomatosis
Insulin resistance ORPHA:2398
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:613877
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Maternal diabetes, M... ORPHA:99886
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Decreased adiponectin le... ORPHA:79085
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Hypoglycemia, Central hypothyroidism OMIM:616113
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Insulin resistance, Diabetes mellitus, Hypercholesterolemia OMIM:612526
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Type II diabetes melli... OMIM:604367
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia ORPHA:71529
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79084
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia ORPHA:364
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Fasting hypoglycemia, Neonatal hypoglycemia, Excessi... ORPHA:324575
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnormal response to glucagon stim... ORPHA:79644
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Diabetes mellitus, Insulin resistance OMIM:615980
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Acth Deficiency, Isolated
Decreased circulating cortisol level, Fasting hypoglycemia, Adrenal hypoplasia, Adrenocorticotrop... OMIM:201400
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:202200
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, Hyperlipidemia ORPHA:2089
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes melli... ORPHA:435660
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276580
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypoglycemic seizures, Neonatal hypoglycemia, Hypothyroidism, Panhypopitui... OMIM:262600
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Abnormal insulin level, T... ORPHA:552
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hypertriglyceridemia, Insulin-resistant diabetes mell... ORPHA:280356
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia OMIM:232400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276575
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Acquired Partial Lipodystrophy
Insulin resistance ORPHA:79087
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... ORPHA:90301
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia OMIM:613027
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased circulating cortisol level, Adrenal hypop... ORPHA:199296
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hypoglycemia, Hypogonadism OMIM:617872
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Excessive insulin response to glucagon test, Recurrent hypoglycemia, React... ORPHA:276556
Glycerol Kinase Deficiency
Adrenal insufficiency, Adrenocortical hypoplasia, Hypoglycemia, Hypertriglyceridemia OMIM:307030
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypogonadism, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance OMIM:615381
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Reactive hypoglycemia, Hypogonadotropic hypogonadism OMIM:600955
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, ... ORPHA:2457
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia OMIM:610768
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Delayed puberty ORPHA:369
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Insulin-... ORPHA:179494
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Propionic Acidemia
Hypoglycemia ORPHA:35
Congenital Generalized Lipodystrophy
Precocious puberty in females, Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Diabet... ORPHA:528
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Delayed puberty, Hypercholesterolemia ORPHA:633
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Hypoglycemia, Male hypogonadism, Delayed p... OMIM:300148
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hypoglycemia ORPHA:156
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
Galactokinase Deficiency
Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hypercholesterolemia ORPHA:79237
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:608600
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Hypoglycemia, Panhypopituitarism, Decr... ORPHA:95619
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia OMIM:246900
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia OMIM:617156
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, In... ORPHA:2298
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Hypertriglyceridemia, Hypogonadism OMIM:617575
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Diabetes mellitus, Hypertriglyceridemia,... ORPHA:79083
Seckel Syndrome 10
Glycosuria, Insulin resistance, Elevated circulating luteinizing hormone level, Elevated circulat... OMIM:617253
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71526
2P21 Microdeletion Syndrome
Hypoglycemia, Hypogonadism ORPHA:163693
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Recurrent hypoglycemia, Increased... ORPHA:94086
Primary Lipodystrophy
Hyperlipidemia, Insulin resistance, Type II diabetes mellitus ORPHA:90970
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Precocious puberty, Congenital hypothyroidism OMIM:614736
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Familial Multiple Lipomatosis
Hyperlipidemia, Insulin resistance ORPHA:199276
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Diabetes mellitus, Insulin resistance ORPHA:2348
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:79086
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:26792
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia OMIM:619048
Hypoadrenocorticism, Familial
Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia OMIM:240200
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Carnitine Deficiency, Systemic Primary
Recurrent hypoglycemia, Hypoglycemia, Impaired gluconeogenesis OMIM:212140
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hypoketotic hypoglycemia OMIM:255120
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia OMIM:618839
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hypertriglyceri... ORPHA:435651
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Thyroid adenoma, Pituitary prolactin cell adenoma, Parathyroid adenoma, Elevated ci... OMIM:131100
Hemochromatosis, Neonatal
Hypoglycemia OMIM:231100
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypoglycemia OMIM:619386
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis OMIM:261680
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia OMIM:618958
Solitary Fibrous Tumor/Hemangiopericytoma
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia ORPHA:2126
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Hypogonadism ORPHA:73272
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Hypoglycemia, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus,... ORPHA:95496
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Temple Syndrome
Recurrent hypoglycemia, Decreased response to growth hormone stimulation test, Type II diabetes m... ORPHA:254516
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia OMIM:615160
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Fasting hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell ... ORPHA:263455
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Diabetes mellitus, Postprandial hyperglycemia, Hypertriglycerid... ORPHA:2088
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia OMIM:613327
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Insulin resistance, Increased pineal... ORPHA:769
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia,... ORPHA:71212
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Hyperlipidemia, Insulin resistance ORPHA:90154
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Placental Insufficiency
Insulin resistance ORPHA:439167
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia OMIM:220111
Infantile Liver Failure Syndrome 2
Hypoglycemia OMIM:616483
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia, Increased urinary cortisol level, Decreased circulating aldosterone level, Abnormal... ORPHA:786
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Decreased circulating cortisol level, Abnormal circulating androgen level, Hyperact... ORPHA:90790
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia ORPHA:230
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia ORPHA:5
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Neonatal... ORPHA:90791
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Adrenal insufficiency, Hypoglycemic seizures, Decreased circulating dehydro... ORPHA:361
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Diabetes mellitus, Hypertriglyceridemia, Decreas... ORPHA:280365
Aromatase Deficiency
Hypergonadotropic hypogonadism, Hyperlipidemia, Insulin resistance, Type II diabetes mellitus ORPHA:91
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia ORPHA:2394
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Insulin resistance ORPHA:90153
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Hypoglycemia, Central adrenal insufficienc... OMIM:615577
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Hyperinsulinemia ORPHA:791
Pituitary Apoplexy
Central diabetes insipidus, Hypoglycemia, Hypopituitarism, Hypergonadotropic hypogonadism, Increa... ORPHA:95613
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hypoglycemia OMIM:256810
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Precocious puberty, Po... OMIM:246200
Classic Galactosemia
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:79239
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia OMIM:245400
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Diabetes mellitus OMIM:616026
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Short Syndrome
Diabetes mellitus, Insulin resistance ORPHA:3163
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Glucose intolerance, Hyper... OMIM:608612
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Hypergonadotropic h... OMIM:606407
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Silver-Russell Syndrome
Recurrent hypoglycemia, Precocious puberty, Insulin resistance, Premature adrenarche ORPHA:813
Intellectual Developmental Disorder, Autosomal Dominant 35
Hypoglycemia OMIM:616355
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia OMIM:201450
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Hypoglycemia, Diabetes mellitus, Delayed puberty ORPHA:391408
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Recurrent hypoglycemia, Decreased circulating cortisol level, D... ORPHA:293978
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Hashimoto thyroiditis, Graves disease, Decreased circulating cortisol level, Adreno... ORPHA:199299
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:3085
Maple Syrup Urine Disease
Hypoglycemia OMIM:248600
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia OMIM:600649
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia OMIM:210200
Glycogen Storage Disease Ia
Xanthelasma, Hypoglycemia, Hyperlipidemia, Delayed puberty OMIM:232200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Delayed puberty ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Recurrent hypoglycemia, Hypertr... ORPHA:79240
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Diabetes mellitus OMIM:260370
Leprechaunism
Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Increased cir... ORPHA:508
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Hypoglycemia, Abnormal size of pituitary gla... ORPHA:91355
Cog8-Cdg
Hypoglycemia ORPHA:95428
Glycogen Storage Disease Ib
Xanthelasma, Hypoglycemia, Hyperlipidemia, Delayed puberty OMIM:232220
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia OMIM:611126
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia ORPHA:42
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia OMIM:619046
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, In... ORPHA:785
Smith-Kingsmore Syndrome
Hypoglycemia OMIM:616638
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia, Hypothyroidism, Delayed puberty OMIM:616817
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia OMIM:229700
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired gl... OMIM:248370
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Hypoglycemia OMIM:608624
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia ORPHA:348
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia OMIM:246450
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hypoglycemia OMIM:212138
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, Type II diabetes mel... OMIM:151660
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Hypoglycemia ORPHA:397590
Whipple Disease
Hypothyroidism, Insulin resistance ORPHA:3452
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Diabetes mellitus, Insulin resistance OMIM:616541
Monosomy 13Q34
Insulin resistance ORPHA:96168
Acute Adrenal Insufficiency
Primary adrenal insufficiency, Hypoglycemia, Increased circulating renin level, Decreased circula... ORPHA:95409
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Glycogen Storage Disease Ic
Xanthelasma, Hypoglycemia, Hyperlipidemia, Delayed puberty OMIM:232240
Addison Disease
Primary adrenal insufficiency, Hypoglycemia, Increased circulating renin level, Hashimoto thyroid... ORPHA:85138
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia OMIM:617710
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia OMIM:617049
Glutaric Acidemia I
Hypoglycemia OMIM:231670
Propionic Acidemia
Hypoglycemia OMIM:606054
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Precocious puberty, Decreased response to growth hormon... ORPHA:96182
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Fasting hypoglycemia OMIM:180860
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Hypogonadism, Diabetes mellitus, Insulin resistance OMIM:209900
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Delayed puberty, Fasting hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia ORPHA:370
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia OMIM:231680
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia OMIM:251880
Alstrom Syndrome
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Hypergonadotropic hypogonadism, Insulin-res... OMIM:203800
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:226307
Gitelman Syndrome
Diabetic ketoacidosis, Primary hyperaldosteronism, Insulin resistance, Hashimoto thyroiditis, Gra... ORPHA:358
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Neonatal hypoglycemia, Increas... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Neonatal hypoglycemia, Increas... ORPHA:168558
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia OMIM:210210
Non-Acquired Panhypopituitarism
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Hypoglycemia, Delayed puberty, A... ORPHA:90695
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Hypercholesterolemia, Hypertriglyceridemia, Glucose intolerance, Impaired glu... OMIM:606721
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperlipidemia, Hyperinsulinemia, Delayed puberty, Decreased serum testosterone c... ORPHA:3464
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia, Hyperlipidemia ORPHA:157
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hypoketotic hypoglycemia ORPHA:26793
Werner Syndrome
Thyroid carcinoma, Hypogonadism, Insulin resistance, Type II diabetes mellitus ORPHA:902
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia ORPHA:134
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Hyperlipidemia, Hypothyroidism, Hypercholesterolemia, Xanthe... ORPHA:79259
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Hypoglycemia OMIM:619055
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia ORPHA:228305
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism, Hypoglycemic seizures, Hypoglycemia ORPHA:480864
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia OMIM:201475
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Hypoglycemia OMIM:618005
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia OMIM:619355
Carnitine-Acylcarnitine Translocase Deficiency
Hypoketotic hypoglycemia, Fasting hypoglycemia ORPHA:159
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature thelarche, Hypothyroidism, Hypoglycemia, Premature pubarche OMIM:616878
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Neonatal hypoglycemia, Hypoglycemia, Hypertriglyceridemia OMIM:619418
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia ORPHA:457485
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia ORPHA:26791
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Nonketotic hypoglycemia OMIM:608836
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Increased circulating progesterone, Hypogona... ORPHA:90794
Steinert Myotonic Dystrophy
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Abnormality of thyroid physiology, De... ORPHA:273
Sotos Syndrome
Glucose intolerance, Neonatal hypoglycemia OMIM:117550
Mirage Syndrome
Adrenal insufficiency, Hypoglycemia, Hypergonadotropic hypogonadism OMIM:617053
Congenital Disorder Of Glycosylation, Type It
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty OMIM:614921
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia OMIM:124000
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia OMIM:233600
Isolated Complex I Deficiency
Hypoglycemia, Diabetes mellitus ORPHA:2609
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia OMIM:618329
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Neonatal hypoglycemia ORPHA:445038
Congenital Disorder Of Glycosylation, Type Iie
Hypoglycemia OMIM:608779
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia OMIM:609015
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia, Hyperlipidemia ORPHA:228308
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia ORPHA:565624
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Dilated Cardiomyopathy With Ataxia
Hypothyroidism, Neonatal hypoglycemia ORPHA:66634
Bloom Syndrome
Diabetes mellitus, Insulin resistance ORPHA:125
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia ORPHA:99901
Bannayan-Riley-Ruvalcaba Syndrome
Hashimoto thyroiditis, Thyroid carcinoma, Neoplasm of the adrenal cortex, Hypoglycemia ORPHA:109
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Hypoparathyroidism ORPHA:746
Cholera
Hypoglycemia ORPHA:173
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia ORPHA:35173
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Leigh Syndrome
Hypoglycemia ORPHA:506
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Hypoglycemia, Delayed puberty, A... ORPHA:95494
Alg12-Cdg
Recurrent hypoglycemia, Hypocholesterolemia, Decreased serum insulin-like growth factor 1 ORPHA:79324
Visceral Steatosis, Congenital
Hypoglycemia OMIM:228100
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia ORPHA:572798
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant diabetes mellitus at puberty, Hyp... OMIM:608594
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hyperglycemia ORPHA:3008
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Holoprosencephaly
Hypoglycemia, Diabetes insipidus, Panhypopituitarism, Anterior hypopituitarism, Diabetes mellitus ORPHA:2162
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Shigellosis
Hypoglycemia ORPHA:810
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant diabetes mellitus at puberty, Hyp... OMIM:269700
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Precocious puberty OMIM:301066
Kabuki Syndrome 2
Neonatal hypoglycemia OMIM:300867
3-Hydroxy-3-Methylglutaric Aciduria
Recurrent hypoglycemia, Nonketotic hypoglycemia ORPHA:20
Tyrosinemia, Type I
Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:276700
Hereditary Fructose Intolerance
Reactive hypoglycemia ORPHA:469
Bannayan-Riley-Ruvalcaba syndrome
Hashimoto thyroiditis, Hypoglycemia OMIM:153480
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia ORPHA:79282
Deeah Syndrome
Neonatal hypoglycemia, Anterior pituitary hypoplasia, Panhypopituitarism, Decreased circulating f... OMIM:619004
Menkes Disease
Hypoglycemia ORPHA:565
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypoglycemia ORPHA:17
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypoglycemia OMIM:252010
Fructose Intolerance, Hereditary
Glycosuria, Hypoglycemia OMIM:229600
Hepatocellular Carcinoma
Hypoglycemia, Type II diabetes mellitus ORPHA:88673
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Insulin resistance, Pubertal developmental failure in females, Decreased ser... ORPHA:740
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Decreased response to gro... OMIM:176270
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypoglycemia ORPHA:3337
Histiocytoid Cardiomyopathy
Hypoglycemia ORPHA:137675
Atypical Werner Syndrome
Glycosuria, Hyperinsulinemia, Delayed puberty, Insulin-resistant diabetes mellitus, Fasting hyper... ORPHA:79474
Simpson-Golabi-Behmel Syndrome
Hypoglycemia, Pancreatic islet-cell hyperplasia ORPHA:373
Beckwith-Wiedemann Syndrome
Hypothyroidism, Neonatal hypoglycemia, Hypoglycemia, Pseudohypoparathyroidism, Adrenocortical car... ORPHA:116
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia OMIM:613658
Holoprosencephaly 1
Hypoglycemia, Diabetes insipidus, Adrenal hypoplasia OMIM:236100
Acute Liver Failure
Adrenal insufficiency, Hypoglycemia ORPHA:90062
Marburg Hemorrhagic Fever
Hypoglycemia ORPHA:99826
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia ORPHA:457359
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Adrenocortical cytomegaly, Adrenocortical carcinoma OMIM:130650
Alström Syndrome
Primary hypothyroidism, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Precocious puberty ... ORPHA:64
Costello Syndrome
Hypoglycemia OMIM:218040
Turner Syndrome
Hyperlipidemia, Hyperinsulinemia, Hashimoto thyroiditis, Thyroiditis, Increased circulating gonad... ORPHA:881
Mosaic Monosomy X
Hyperlipidemia, Hyperinsulinemia, Hashimoto thyroiditis, Thyroiditis, Increased circulating gonad... ORPHA:99228
Monosomy X
Hyperlipidemia, Hyperinsulinemia, Hashimoto thyroiditis, Thyroiditis, Increased circulating gonad... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperlipidemia, Hyperinsulinemia, Hashimoto thyroiditis, Thyroiditis, Increased circulating gonad... ORPHA:99413
Pmm2-Cdg
Hypogonadotropic hypogonadism, Insulin resistance, Hyperinsulinemia, Elevated circulating growth ... ORPHA:79318
Sotos Syndrome
Hypothyroidism, Neonatal hypoglycemia ORPHA:821

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 Fabp4

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 Fabp4.

No publications found that use IMPC mice or data for Fabp4.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Fabp4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Fabp4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fabp4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Fabp4em1(IMPC)Mhzh Deletion Mice
Fabp4tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter