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Gene: Cyb5r4 MGI:2386848

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cytochrome b5 reductase 4
Synonyms:
Ncb5or,  b5/b5r,  B5+B5R,  2810034J18Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 Cyb5r4 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 Cyb5r4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Hypertriglyceridemia, Increased adipose ... ORPHA:71529
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276575
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin ... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276580
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus, Lipodystrophy, Hypertriglyceridemia OMIM:246650
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Hypoglycemia OMIM:601820
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased adi... OMIM:608600
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... OMIM:222100
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Excessive in... ORPHA:276556
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Hypertr... OMIM:617885
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transient neonatal diabete... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsulinemia, Central adr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsulinemia, Central adr... ORPHA:71526
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Polyphagia ORPHA:329249
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Hepatic steatosis OMIM:620195
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Hyper... ORPHA:280356
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav... OMIM:614963
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosi... OMIM:612526
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Polyphagia, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ... ORPHA:293964
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... OMIM:606762
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hepatic s... OMIM:615703
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Hyperb... OMIM:609734
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decreased testi... ORPHA:453533
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabete... OMIM:609812
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased a... ORPHA:435660
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Glycogen Storage Disease Iii
Hepatic fibrosis, Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentratio... OMIM:232400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen conte... ORPHA:369
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:151660
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Flexion contracture, Reduced C-peptide level OMIM:618856
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... OMIM:600955
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:618858
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Increased circulating free T4 ... OMIM:275000
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria ORPHA:2089
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Polyphagia, Decreased serum leptin OMIM:614962
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Umbilical hernia, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Reduced ... OMIM:608594
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu... ORPHA:363400
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Polyphagia, Hypervalinemia, Increased blood urea nitrogen, Hyper... OMIM:620085
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Genera... OMIM:608612
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Hyperinsulinemia, Elevated hemoglobin A1c, Type II diabetes mellitus, Hepatic s... OMIM:269700
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Hypocalcemia, Polyphagia, Neonatal hypogly... OMIM:606407
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Hyperlipidemia, Cirrhosis, Hepatomegaly, Jaundi... OMIM:214900
Methanol Poisoning
Hyperlipidemia, Addictive alcohol use, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:31825
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ... OMIM:606069
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Bardet-Biedl Syndrome 9
Hyperglycemia, Polyphagia, Polydipsia OMIM:615986
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the liver, Reduced C-... ORPHA:2126
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:248370
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Hepatic steatosis, Cryptorchidism, Lipodystrophy, Loss of ... OMIM:615381
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Decreased HDL cholesterol concentration, Delayed menarche, Abn... ORPHA:247585
Familial Chylomicronemia Syndrome
Acute pancreatitis, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlip... ORPHA:444490
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Glycogen Storage Disease Ixc
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ... OMIM:613027
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Hypogonadism, Congenital hepatic fibrosis, Abnormal... ORPHA:79230
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Lipodystroph... ORPHA:2348
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Hyperbilirubinemia, Absent g... OMIM:615710
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Transient hyperlipidemia, Hypoglycemia ORPHA:156
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hepatic steatosis, Polycysti... ORPHA:528
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly ORPHA:75563
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
14Q11.2 Microduplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior ORPHA:261229
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Diabetes ... OMIM:167800
Huntington Disease
Abnormal circulating cholesterol concentration, Oral-pharyngeal dysphagia, Disinhibition, Polypha... ORPHA:399
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... ORPHA:98754
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Pancrea... OMIM:615935
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177901
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... OMIM:615812
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Type II diabete... OMIM:618620
Glycogen Storage Disease Ia
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Pancreatitis, Delayed puberty, Fasting ... OMIM:232200
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia OMIM:617119
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Hepatic steatosis, Hyperammonemia, Elevated circulating creatine kinase... OMIM:255120
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Glycogen Storage Disease Ib
Hypoglycemia, Xanthelasma, Hyperlipidemia, Splenomegaly, Hyperuricemia, Pancreatitis, Delayed pub... OMIM:232220
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Lipoatrophy, Increased adipose tissue around the... ORPHA:280365
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:614480
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... OMIM:615363
Schaaf-Yang Syndrome
Hypogonadism, Cryptorchidism, Polyphagia, Skin-picking, Camptodactyly, Flexion contracture, Arthr... OMIM:615547
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Aggressive behavior, Self-mutilation OMIM:616521
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Cryptorchidism, Hepatomegaly, Fe... ORPHA:2849
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Cryptorchidism, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity... ORPHA:228402
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Xerost... ORPHA:398079
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... OMIM:300942
Pediatric-Onset Graves Disease
Graves disease, Polydipsia, Goiter, Puberty and gonadal disorders, Splenomegaly, Increased circul... ORPHA:525731
Dysbetalipoproteinemia
Acute pancreatitis, Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholester... ORPHA:412
Hereditary Chronic Pancreatitis
Pancreatic calcification, Recurrent pancreatitis, Elevated circulating C-reactive protein concent... ORPHA:676
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia ORPHA:177910
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Cryptorchidi... OMIM:616222
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuffic... OMIM:260370
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Mildly elevated creatine kinase, Episodic hypokalemia, Adrenocortical... ORPHA:681
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Abnormal hepatic glycogen storage, Increased hepatic glyc... ORPHA:2088
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Xerostomia, Central hypothyr... ORPHA:398069
Cholesteryl Ester Storage Disease
Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepat... ORPHA:75234
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Inappropriate laughter, Hyperactivity ORPHA:411515
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free... ORPHA:157
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Flexion ... OMIM:609069
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins... ORPHA:54595
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Calcinosis ORPHA:90154
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Secondary Short Bowel Syndrome
Central hypothyroidism, Cholestasis, Primary hypothyroidism, Polyphagia, Low plasma citrulline, S... ORPHA:95427
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl... ORPHA:465508
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... OMIM:607616
Aromatase Deficiency
Insulin resistance, Hyperlipidemia, Type II diabetes mellitus, Hepatic steatosis, Cryptorchidism,... ORPHA:91
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Prader-Willi Syndrome
Precocious puberty, Self-injurious behavior, Decreased response to growth hormone stimulation tes... OMIM:176270
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... OMIM:616516
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Microtriplication 11Q24.1
Bruxism, Hyperlipidemia ORPHA:289522
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free... ORPHA:228308
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Oral aversion, Anorexia, Hepatomegaly... ORPHA:134
Hyperlipoproteinemia, Type V
Increased circulating chylomicron concentration, Increased VLDL cholesterol concentration, Decrea... OMIM:144650
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia ORPHA:171829
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia, Breast aplasia ORPHA:90153
19P13.12 Microdeletion Syndrome
Precocious puberty, Self-injurious behavior, Hyperlipidemia, Hepatic steatosis, Cryptorchidism, H... ORPHA:254346
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Cryptorchidism, ... OMIM:175700
Glycogen Storage Disease Ic
Hypoglycemia, Xanthelasma, Chronic pancreatitis, Hyperlipidemia, Hyperuricemia, Hepatoblastoma, D... OMIM:232240
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ... ORPHA:293987
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus ORPHA:439232
Intellectual Developmental Disorder, Autosomal Dominant 72
Polyphagia, Attention deficit hyperactivity disorder, Overfriendliness OMIM:620439
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase concentration, Pancreatitis, H... ORPHA:565612
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Cryptorchidism, Hypothyroidis... OMIM:617575
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Polydipsia, Insulin-resistant... ORPHA:769
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... OMIM:605814
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia, Splenomegaly, Hepatic steatosis, Elevated circulating creat... OMIM:613327
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Addictive alcohol use, Hypothyroidism, Hypercholesterolemia ORPHA:90065
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Recurrent han... ORPHA:3008
Joubert Syndrome 10
Polyphagia, Frequent temper tantrums OMIM:300804
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hepatic steatosis, Hyperuricemi... ORPHA:79259
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder, Bilateral cryptorchidism ORPHA:1715
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... OMIM:603552
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Recurrent hypoglycemia, Splenomegaly, Elevated circulating creatine kinase conc... ORPHA:79240
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia OMIM:256300
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Hypouricemia, Glycosuria, Hyperbilirubinemi... OMIM:227810
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Hyperlipi... ORPHA:567983
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hyperammonemia, Hypoglycemia OMIM:615453
Neutral Lipid Storage Disease With Myopathy
Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Elevated circulating creatine kinase conce... OMIM:610717
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Hypoglycemia, Cholestasis, Hepatic steatosis, Splenomegaly, El... ORPHA:264580
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Polyphagia, Delayed puberty, Increased blood urea nitrogen, An... ORPHA:251004
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Hyperglycemia, L... ORPHA:99885
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa... OMIM:300635
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... ORPHA:79444
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypopituitarism, Hepatosplenomegaly, Hepatic steatosis, Hypothyroidism, Hypertri... OMIM:619013
Angelman Syndrome
Self-injurious behavior, Precocious puberty in females, Delayed menarche, Inappropriate laughter,... ORPHA:72
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro... OMIM:615947
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, Increased ... ORPHA:86816
Smith-Magenis Syndrome
Head-banging, Abnormality of the thyroid gland, Onychotillomania, Self-mutilation, Hypercholester... OMIM:182290
Man1B1-Cdg
Polyphagia ORPHA:397941
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Decreased response ... OMIM:203800
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep... ORPHA:247598
Luscan-Lumish Syndrome
Polyphagia, Aggressive behavior, Polycystic ovaries OMIM:616831
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Sclerosing cholangitis, Has... ORPHA:64744
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Peritonitis, Abnormal glucose homeostasis ORPHA:391673
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Decreased adipose tissue aroun... OMIM:606721
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Wagro Syndrome
Decreased testicular size, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation OMIM:612469
Aceruloplasminemia
Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... ORPHA:48818
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... ORPHA:79443
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... OMIM:156200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration OMIM:613101
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Abnormality of thyroid physiology, Pancreatitis ORPHA:1830
Werner Syndrome
Hypogonadism, Elevated hemoglobin A1c, Diabetes mellitus, Hypertriglyceridemia OMIM:277700
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia OMIM:177000
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Cryptorchidism, Self-mutilation, Polyphagia, Aggressive behavior, Rest... ORPHA:251028
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Agitation, Impulsivity, Hyperactivity, Hypernatremia OMIM:620423
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Hypoglycemia, Polysplenia, Exocrine pancreatic insuf... OMIM:619418
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Hepatic steatosis, Chol... ORPHA:98908
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insu... OMIM:137920
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... OMIM:205400
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration... ORPHA:77293
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:620603
H Syndrome
Hypogonadism, Decreased testicular size, Hepatosplenomegaly, Hernia, Lipodystrophy, Delayed puber... ORPHA:168569
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Weaver Syndrome
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Cryptorchidism, Polyphagia, Cam... OMIM:277590
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Panniculitis, Splenomegaly, Increased circulating ferritin concentration OMIM:618398
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Umbilical hernia, Inguinal hernia, Cryptorch... ORPHA:404448
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Overfriendliness, Hypertriglyceridemia OMIM:618010
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Aggres... ORPHA:96121
Glycerol Kinase Deficiency
Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Cryptorchid... OMIM:307030
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegal... ORPHA:158057
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Glycosuria, Umbilical hernia, Hyperglycemia, Absent gallbladder, Congenita... OMIM:600001
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... ORPHA:508
Smith-Magenis Syndrome
Precocious puberty, Self-injurious behavior, Attention deficit hyperactivity disorder, Hypothyroi... ORPHA:819
Gaisböck Syndrome
Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Diabe... ORPHA:90041
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Graves disease, Hypomagnesemia, Transient hypop... ORPHA:79102
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... ORPHA:567548
Atypical Werner Syndrome
Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abn... ORPHA:79474
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Bruxism, Cryptorchidism, Polyphagia, Atten... OMIM:615873
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreas... ORPHA:98855
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Lysinuric Protein Intolerance
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Oral aversion, Cirr... ORPHA:470
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Cryptorchidism, Ventral her... ORPHA:536532
1P36 Deletion Syndrome
Self-injurious behavior, Annular pancreas, Camptodactyly of finger, Hypogonadism, Abnormality of ... ORPHA:1606
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreas... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreas... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreas... ORPHA:261
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Hypoplastic spleen, Increased circulating ferritin concentration, Hyper... OMIM:619313
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Flexion contracture, Panniculitis OMIM:617591
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Parotitis, Camptodactyly of finge... OMIM:256040
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Elevated ... ORPHA:158061
Scorpion Envenomation
Glycosuria, Hyperglycemia, Hypokalemia, Increased circulating creatine kinase MB isoform, Increas... ORPHA:466677
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hyperglycemia, Hepatic st... OMIM:124000
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Hepatos... OMIM:603553
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... OMIM:618183
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia... ORPHA:64
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hydrocele testis, Hyperlipidemia ORPHA:567546
Fabry Disease
Abnormal circulating lipid concentration, Hyperlipidemia, Hypohidrosis, Delayed puberty, Anorexia... ORPHA:324
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Increased circulating ferritin concentration, Splenom... ORPHA:540
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Umbilical hernia, Hypocalcemia, Hair-pulling, Polypha... OMIM:620330
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Mandibuloacral Dysplasia Progeroid Syndrome
Generalized lipodystrophy, Glucose intolerance, Hypertriglyceridemia, Hepatomegaly, Elevated hemo... OMIM:619127
Xp21 Deletion Syndrome
Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating creatine kinase concen... ORPHA:261476
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Congenital hypothyroidism, Oppositional defiant disorder, Cryptorchidism... OMIM:607872
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Adrenal calcification, Hepatosplenomegaly, Primary adrenal insufficiency, Hyper... ORPHA:275761
Neutral Lipid Storage Disease With Ichthyosis
Micronodular cirrhosis, Abnormal circulating creatine kinase concentration, Hepatic steatosis, Hy... ORPHA:98907
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Pulmonary... ORPHA:363618
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Palmoplantar hyperhidrosis, Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Beckwith-Wiedemann Syndrome
Abnormal pancreas morphology, Hypoglycemia, Exocrine pancreatic insufficiency, Umbilical hernia, ... ORPHA:116
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia, Inguinal hernia, Hyperammonemia, Microvesicular hepatic steatosis, D... OMIM:220111
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Hypogonadism, Decreased testicular size, Impaired fasting g... ORPHA:110
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hyperglycemia, Hypothyroidism ORPHA:444077
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypercalcemia, Precocious puberty, Hypertriglyceridemia ORPHA:369837
Alagille Syndrome 1
Cholestasis, Exocrine pancreatic insufficiency, Hypertriglyceridemia, Reduced number of intrahepa... OMIM:118450
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Increased circulating prolactin concentration, Cam... ORPHA:3455
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, H... ORPHA:158048
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Hyponatremia, Hyp... ORPHA:167
Immunodeficiency 87 And Autoimmunity
Cholestasis, Hepatic steatosis, Hypokalemia, Elevated circulating C-reactive protein concentratio... OMIM:619573
Wiedemann-Rautenstrauch Syndrome
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Cryptorchidism, Hypoplasia of t... OMIM:264090
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis ORPHA:391665
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150

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 Cyb5r4

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 Cyb5r4.

No publications found that use IMPC mice or data for Cyb5r4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cyb5r4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cyb5r4tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cyb5r4tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cyb5r4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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