Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
angiotensin II, type I receptor-associated protein
Synonyms:
3300002E14Rik,  D4Wsu124e,  Atrap

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 Agtrap 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 Agtrap by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Generalized ... OMIM:612526
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Decreased serum leptin, Hypertriglyceridemia, Lipodystrophy, Increased intraabdom... ORPHA:79085
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal... OMIM:604367
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Hyper... OMIM:601894
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Loss of gluteal subcutaneous adipose ti... ORPHA:435660
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Lobular glomerulopathy, Nephropathy, Renal insufficiency, Proteinuria, Glomer... OMIM:137950
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... OMIM:603965
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio... OMIM:616818
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertriglyceridemia, L... OMIM:615238
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:613944
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia OMIM:608898
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistance OMIM:617885
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chronic... OMIM:161900
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Hypertriglyc... ORPHA:435651
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension OMIM:607832
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Histiocytosis OMIM:235900
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the young, Increased ... ORPHA:324575
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis OMIM:616963
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency ORPHA:436182
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:618398
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, ... OMIM:606762
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... OMIM:607616
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... ORPHA:54370
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Lymphocytosis ORPHA:79087
Renal Glucosuria
Polyuria, Glycosuria, Enuresis nocturna OMIM:233100
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance, Hypogonadism, Hyp... ORPHA:181393
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly OMIM:619175
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Nephronophthisis-Like Nephropathy 2
Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, Stage 5 chron... OMIM:619468
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Inc... ORPHA:276575
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:161950
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Hypercalcemia, Infantile, 1
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalciuria, Nephrocalcin... OMIM:143880
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Senior-Loken Syndrome 4
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Inc... ORPHA:276580
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen... ORPHA:363400
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diabetes mellitus OMIM:610717
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Proximal renal tubular acidosis, Hypotension, Decreased uri... ORPHA:427
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Hyperaldosteronism, Familial, Type Iii
Hypertension, Polyuria, Hypercalciuria OMIM:613677
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... ORPHA:71212
Microvillus Inclusion Disease
Hypovolemia, Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Fibronectin Glomerulopathy
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Renal insuffic... ORPHA:84090
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Nephrogenic Diabetes Insipidus
Hypovolemia, Hyposthenuria, Hydroureter, Functional abnormality of the bladder, Renal insufficien... ORPHA:223
Glycogen Storage Disease Ixa1
Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Bartter Syndrome, Type 3
Increased urinary potassium, Polyuria, Hypocalciuria, Hypotension, Renal potassium wasting, Hyper... OMIM:607364
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Flexion contracture, Hypertriglyceridemia, Lipodystrophy, Hypogonadism, Insulin resistance, Diabe... OMIM:615381
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Hypertriglyceridemia,... ORPHA:528
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... OMIM:613101
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia OMIM:245900
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... ORPHA:171706
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Stage 5 chronic kidney disease... OMIM:612925
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... ORPHA:276556
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria, Hypertension ORPHA:220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:612922
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Pulmonary arterial hyperte... OMIM:613845
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hy... OMIM:300635
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Splenomegaly OMIM:614480
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Splenomegaly, Maternal diabetes, Loss of facial adipose tissue, Hypertriglyceridemia... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Cellulitis, Splenomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, In... ORPHA:2348
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Primary Lipodystrophy
Hyperlipidemia, Lipoatrophy, Type II diabetes mellitus, Splenomegaly, Lipodystrophy, Insulin resi... ORPHA:90970
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Papular Xanthoma
Histiocytosis ORPHA:158008
Temple Syndrome
Maturity-onset diabetes of the young, Hypertriglyceridemia, Flexion contracture, Hypercholesterol... OMIM:616222
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... ORPHA:293964
Colchicine Poisoning
Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Oliguria, Renal insufficien... ORPHA:31824
Type 1 Diabetes Mellitus
Polyuria OMIM:222100
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal circulating lipid concentration, Generalized lipodystrophy, Hypertrigl... ORPHA:79086
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Renal tubular acidosis, Polyuria,... OMIM:248250
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Ab... ORPHA:552
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Renal insu... OMIM:614723
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Hypovolemia, Glycosuria, Abnormal... ORPHA:411634
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Proximal Renal Tubular Acidosis
Nephrolithiasis, Aminoaciduria, Hypovolemia, Hyperuricosuria, Glycosuria, Global proximal tubulop... ORPHA:47159
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Pulmonary embolism, Abnormal glomerular visce... ORPHA:567548
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polyuria, Hydronephrosis OMIM:304900
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Hyperphosphatemia, Polyuria, And Seizures
Polyuria OMIM:239350
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease OMIM:606995
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Splen... ORPHA:280365
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Lymphopenia, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypoalbum... OMIM:617575
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Cholesteryl Ester Storage Disease
Adrenal calcification, Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia ORPHA:75234
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperlipidemia, Hy... OMIM:248370
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Autoinflammatory-Pancytopenia Syndrome
Hemophagocytosis, Hepatosplenomegaly, Lipodystrophy, Type I diabetes mellitus, Pancytopenia, Gran... OMIM:619858
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158061
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia OMIM:617156
Renal Tubular Dysgenesis
Anuria, Abnormality of the urinary system, Renotubular dysgenesis, Hypotension OMIM:267430
Liddle Syndrome
Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension ORPHA:526
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Gitelman Syndrome
Palpitations, Hypocalciuria, Polyuria, Nocturia, Hypotension, Ventricular tachycardia, Renal pota... OMIM:263800
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Lipodystrophy, Hypoalbuminemia, Hyperc... ORPHA:86816
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglyc... OMIM:262190
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia, Hyp... OMIM:619013
Glycerol Kinase Deficiency
Hypoglycemia, Hypertriglyceridemia, Adrenocortical hypoplasia, Adrenal insufficiency OMIM:307030
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Hepato... ORPHA:79237
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d... OMIM:602522
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating cre... ORPHA:26793
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Nephrocalcinosis, Hypertension, Congestive heart failure OMIM:614473
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hypernatriuria, Rena... OMIM:613090
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Rena... OMIM:613550
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Keloids ORPHA:3085
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Hypoalbuminemia, A... OMIM:209950
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplasia of the thymus, B lymphocytopenia, T lymp... OMIM:619313
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria, Hypertension OMIM:123550
Glycogen Storage Disease Ixc
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia, Splenomegaly OMIM:613027
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis OMIM:204690
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney d... OMIM:618061
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Ketonuria, Hypovolemia, Abnormality of the upper urinary tract, Glycos... ORPHA:99885
Acute Adrenal Insufficiency
Orthostatic hypotension, Hypovolemia, Hypotension, Myocardial infarction, Renal insufficiency, De... ORPHA:95409
Growth Factors, Combined Defect Of
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... OMIM:233805
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Flexion contracture, Splenomegaly, Hypertriglyceridemia, Lipodystrophy, Anemia, Thro... OMIM:617591
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Flexion contracture, Splenomegaly, Elevated circulating creatine kinase concent... OMIM:613327
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Spl... OMIM:608594
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... OMIM:615558
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, Anemia, ... ORPHA:507
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Polyuria, Hypercalciuria OMIM:300971
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Gaisböck Syndrome
Angina pectoris, Hypovolemia, Myocardial infarction, Hypernatriuria, Hypertension, Nephrocalcinos... ORPHA:90041
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... OMIM:269700
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... OMIM:617253
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty, Calcinosis ORPHA:90154
Teratoma, Pineal
Polyuria OMIM:273120
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Increased LDL cholesterol concentration, Steatorrhea, Adrenal calcificatio... OMIM:278000
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... OMIM:203780
Bardet-Biedl Syndrome 17
Renal cyst, Polyuria, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Polyuria, Hypocalciuria, Renal sodium wasting, Renal potassium wasting, Enuresis, Renal salt wasting OMIM:612780
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Reduced subcutaneous adipose tiss... ORPHA:769
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Proximal tubulopathy OMIM:560000
Bartter Syndrome, Type 1, Antenatal
Hyperprostaglandinuria, Increased urinary potassium, Renal juxtaglomerular cell hypertrophy/hyper... OMIM:601678
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98855
Alg6-Cdg
Decreased LDL cholesterol concentration, Puberty and gonadal disorders, Increased circulating and... ORPHA:79320
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hemophagocytosis, Splenomegaly, He... OMIM:603553
Apolipoprotein C-Ii Deficiency
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... OMIM:207750
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplas... OMIM:246200
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Flexion contracture, Camptodactyly, Elbow flexion contracture, Art... OMIM:214150
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
H Syndrome
Histiocytosis, Hepatosplenomegaly, Camptodactyly, Hypertriglyceridemia, Lipodystrophy, Microcytic... ORPHA:168569
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Arrhythmia, Hypotension, Myocarditis, Oliguria, Renal insuffici... ORPHA:188
Helix Syndrome
Nephrolithiasis, Polyuria, Hypocalciuria, Renal insufficiency OMIM:617671
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98853
Nephrotic Syndrome, Type 1
Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... ORPHA:540
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Midshaft hypospadias, Hypovolemia, Abnormal urine potassium concentrati... ORPHA:168558
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... ORPHA:158048
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Midshaft hypospadias, Hypovolemia, Abnormal urine potassium concentrati... ORPHA:289548
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormal left ventricular function, Hypovolemia, Subarachnoid hemorrhage, Aortic regurgitation, H... ORPHA:91387
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Hy... ORPHA:2704
Ovarian Hyperstimulation Syndrome
Hypovolemia, Capillary leak ORPHA:64739
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis OMIM:304800
Bartter Syndrome, Type 2, Antenatal
Hyperprostaglandinuria, Increased urinary potassium, Renal juxtaglomerular cell hypertrophy/hyper... OMIM:241200
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Acute kidney in... ORPHA:542323
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Neonatal insulin-depen... ORPHA:1667
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Delayed menarche, Decreased HDL cholestero... ORPHA:247585
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Polyuria, Aminoaciduria, Hypercalciuria OMIM:239200
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, H... ORPHA:2070
Lysosomal Acid Lipase Deficiency
Hypovolemia, Abnormal urine potassium concentration, Hypotension, Hypernatriuria, Pulmonary arter... ORPHA:275761
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hypophosphatemia, Glycosuria, Impaired glucose tolerance, Hypertrigly... ORPHA:2088
Short Syndrome
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Abnormal dental enamel mor... ORPHA:3163
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Abnormal macroph... ORPHA:353
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... OMIM:203800
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Hypothyroidism, Elevated circulating creatinine concentration, Hypoalbuminemia, An... OMIM:608104
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Hematuria, Proteinuria, Decreased urine output, Pal... ORPHA:340
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... ORPHA:230
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Pyelonephritis, Recurrent urinary tr... ORPHA:93110
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Hypogonadism, Insulin resistance ORPHA:73272
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test, Hypoalbuminemia OMIM:618347
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea OMIM:602579
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hypoalbuminemia OMIM:618805
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Arrhythmia, Oliguria, Renal insufficiency, Acute kidney inju... ORPHA:99845
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormality of the thyroid gland, Hypercholesterolemia OMIM:182290
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypothyroidism,... ORPHA:412
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Inguinal hernia, Abnormal circulating lipid concentration, Hypothyroidism, Diabetes ... OMIM:616541
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... ORPHA:292
Citrullinemia, Type Ii, Adult-Onset
Hyperargininemia, Hypertriglyceridemia, Elevated plasma citrulline, Hyperammonemia OMIM:603471
Aneurysm Of Sinus Of Valsalva
Oliguria, Aortic regurgitation, Congestive heart failure, Heart murmur ORPHA:1054
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Griscelli Syndrome Type 2
Hyperlipidemia, Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia ORPHA:79477
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hypertrig... ORPHA:79240
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Oliguria, Renal insufficiency, Hypertensive crisis, Pulmonary arteria... ORPHA:220393
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Hyp... ORPHA:93108
Familial Chylomicronemia Syndrome
Hyperlipidemia, Hepatosplenomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... ORPHA:444490
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism, Diabetes mellitus OMIM:277700
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme lev... ORPHA:264580
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Splenomegaly, Hypoglycemia, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Ethylene Glycol Poisoning
Renal tubular dysfunction, Tachycardia, Hematuria, Hypotension, Shock, Renal insufficiency, Renal... ORPHA:31826
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Renal dysplasia, Hematochezia OMIM:618183
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Cystinosis, Nephropathic
Nephrolithiasis, Medullary nephrocalcinosis, Aminoaciduria, Polyuria, Glycosuria, Hematuria, Low-... OMIM:219800
Microscopic Polyangiitis
Arrhythmia, Hematuria, Vasculitis, Oliguria, Renal insufficiency, Glomerulopathy, Gastrointestina... ORPHA:727
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Marburg Hemorrhagic Fever
Hypovolemia, Tachycardia, Hypotension, Shock, Renal insufficiency, Internal hemorrhage, Subconjun... ORPHA:99826
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Glucose intolerance, Impaired glucose tolerance, Decreased a... OMIM:606721
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Werner Syndrome
Type II diabetes mellitus, Thyroid carcinoma, Lipoatrophy, Chondrocalcinosis, Lipodystrophy, Hypo... ORPHA:902
Hyperlipoproteinemia, Type I
Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Splenomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... OMIM:615947
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme lev... ORPHA:370
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Hypotension, Oliguria, Dicarboxylic aciduria, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Hypovolemia, Hypotension, Long penis, Hypernatriuria, Shock, Elevated u... ORPHA:90794
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... ORPHA:64743
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Acute kidney injury, Anuria, Hemolytic-uremic syndrome OMIM:235400
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Histiocytosis, Lymphocytosis, Hemophagocytosis, Spl... ORPHA:2442
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Abnormal leukocyte morphology, Neutropenia, Vacuola... ORPHA:167
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Cholera
Abnormality of renal excretion, Hypovolemic shock, Tachycardia, Hypotension, Acute kidney injury,... ORPHA:173
Placental Insufficiency
Insulin resistance ORPHA:439167
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Abnormality of the endocrine system, Neutropenia in presence of ant... ORPHA:37042
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Delayed puberty ORPHA:369
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration OMIM:607665
Leprechaunism
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hypokalemia, I... ORPHA:508
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone suppression test, ... ORPHA:189427
Whipple Disease
Splenomegaly, Hypothyroidism, Hyponatremia, Insulin resistance, Anemia ORPHA:3452
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Ménétrier Disease
Hypochromic microcytic anemia, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Cellulitis, Elevated circulating creatine ki... ORPHA:36234
Smith-Magenis Syndrome
Precocious puberty, Hypothyroidism, Hypertriglyceridemia, Delayed puberty, Hypercholesterolemia ORPHA:819
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Multiple lipomas, Splenomegaly ORPHA:1414
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concen... ORPHA:261476
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatosple... OMIM:619644
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hyperlipidemia, Decreased serum testosterone concentration, Decreased response ... ORPHA:3464
Alg12-Cdg
Abnormal adipose tissue morphology, B lymphocytopenia, Camptodactyly, Hypocholesterolemia, Hypoal... ORPHA:79324
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Hemophagocytosis, Panniculitis ORPHA:86884
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Splenomegaly, Leukopenia, Hypoalbuminemia, Neutropenia, Anemia, Thrombocytop... OMIM:617303
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of finger, Elevated circulating C-reactive protein concentration, Flexion con... OMIM:256040
Primary Pigmented Nodular Adrenocortical Disease
Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone suppression test, ... ORPHA:189439
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, In... OMIM:242150
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Type I diabetes mellitus, Ne... OMIM:301078
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hemophagocytosis, Steatorrhea, Intraalveolar phosph... ORPHA:470
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Hypoalbuminemia, Hypoproteinemia, Iron deficiency anemia OMIM:226300
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Hypoalbuminemia, Flexion contracture ORPHA:367
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Flexion contracture, Abnormal circulating selenium concentration, Decreased serum iron, Decreased... ORPHA:89842
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism, Hypothyroidism, Thrombocytosis,... OMIM:212065
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Pulmonary carcinoid tumor, Lipoatrophy, Hypercholesterolemia ORPHA:363618
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Abnormal granulocyte mo... ORPHA:98907
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... ORPHA:88618
Gitelman Syndrome
Glucose intolerance, Hypomagnesemia, Hypocalcemia, Hypokalemia, Type II diabetes mellitus, Graves... ORPHA:358
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Ventral hernia, Umbilic... ORPHA:536532
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Transient hyperlipi... OMIM:255120
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Xfe Progeroid Syndrome
Corneal scarring, Absence of subcutaneous fat, Enamel hypoplasia, Hypoalbuminemia OMIM:610965
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Hyperlipidemia, Type II diabetes mellitus ORPHA:91
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Abnormal myeloid leukocyte morphology, Hypoglycemia, Hypertriglyceridemia, Hypoth... ORPHA:79259
Atypical Werner Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Lipoatrophy, Chondrocalcinosis, Glycosuria, Generali... ORPHA:79474
Monosomy 13Q34
Insulin resistance, Infantile hypercalcemia ORPHA:96168
Bloom Syndrome
Abnormal proportion of CD8-positive T cells, Abscess, Adipose tissue loss, Diabetes mellitus, Ins... ORPHA:125
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess ORPHA:67
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Renal cortical hyperechogenicity, Fetal megacystis, Pyeloneph... OMIM:619351
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia, Neonatal hypog... OMIM:619055
Methanol Poisoning
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:31825
Wilson Disease
Hypoparathyroidism, Increased circulating copper concentration, Hyperbilirubinemia, Splenomegaly,... OMIM:277900
Duplication Of Urethra
Bladder duplication, Chordee, Dysuria, Distal urethral duplication, Epispadias, Micropenis, Hyper... ORPHA:237
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Lassa Fever
Oliguria, Shock ORPHA:99824
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia, Precocious puberty, Premature adrenarche ORPHA:813
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steatorrhea, Anemia, Decre... ORPHA:14
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoglycemia, Hypoalbuminemia OMIM:618329
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Flexion contracture, Elevated hemoglobin A1c, Generalized lipodystrophy, Hyp... OMIM:619127
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Zttk Syndrome
Unilateral renal agenesis, Polyuria, Aortic regurgitation, Horseshoe kidney OMIM:617140
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Splenomegaly, Accessory spleen, Hypoglycemia, Hypertriglyceridemia, Neonatal hypoglycemia, Anemia... OMIM:619418
Chronic Visceral Acid Sphingomyelinase Deficiency
Hyperlipidemia, Increased LDL cholesterol concentration, Abnormal circulating lipid concentration... ORPHA:77293
Hepatocellular Carcinoma
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Polycythemia, Hypoglycemia, Thrombocy... ORPHA:88673
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Hypothyroidism, Hemolytic anemia, Hypoalbuminemia, Anemia OMIM:619487
Graft Versus Host Disease
Hyperbilirubinemia, Hemophagocytosis, Dupuytren contracture, Hepatosplenomegaly, Lipodystrophy, F... ORPHA:39812
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Reduced C-peptide level, Recurrent hypog... ORPHA:2126
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Anemia, Thrombocytopenia ORPHA:31150
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Hypoalbuminemia, Atrophic scars, Scarring, Anemia ORPHA:79396
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Myocarditis, Oliguria, Acute kidney injury, Hypertensive crisis, Dec... ORPHA:544482
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Camptodactyly, Hypoalbuminemia, Umbilical hernia, Thyroid lymphang... OMIM:235510
Lujo Hemorrhagic Fever
Hypotension, Myocarditis, Oliguria, Shock, Renal insufficiency, Subconjunctival hemorrhage, Micro... ORPHA:319213
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Hepatosplenomegaly, Leukopenia, Hernia, Hypoalbuminemia, Anemia, Thrombocyto... ORPHA:505248
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Lymphopenia, Secondary hyperaldosteronism, Decreas... ORPHA:90363
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Myocardial infarction, Acute kidney injury, Hypertension, Anuria ORPHA:90038
Galloway-Mowat Syndrome 3
Hiatus hernia, Hypoalbuminemia, Camptodactyly OMIM:617729
Lymphoproliferative Syndrome 2
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia OMIM:615122
Sepsis In Premature Infants
Tachycardia, Hypotension, Reversible renal failure, Oliguria, Bradycardia ORPHA:90051
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Pineal cyst, Diabetes m... ORPHA:98908
Al Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Hypoalbuminemia, Howell-Jolly bodies ORPHA:85443
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Bone-marrow foam cells, Splenomegaly OMIM:257200
Prader-Willi Syndrome
Adrenal insufficiency, Hyperinsulinemia, Precocious puberty, Type II diabetes mellitus, Decreased... OMIM:176270
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia OMIM:174900
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormality of the thyroid gland, Abnormal circul... ORPHA:186
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Juvenile Polyposis Of Infancy
Subcutaneous lipoma, Anemia, Hypoalbuminemia, Refractory anemia ORPHA:79076
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Elevated circulating C-reactive protein concentration, Lymphopenia, Thrombocytopenia... OMIM:619573
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Neph... OMIM:211900
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Decreased response to growth hormone stimulation test, Insulin resistance, Fa... ORPHA:96182
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Precocious puberty, Hypercalcemia ORPHA:369837
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... ORPHA:273
Galloway-Mowat Syndrome 1
Joint contracture of the hand, Hiatus hernia, Hypoalbuminemia, Camptodactyly OMIM:251300
Bardet-Biedl Syndrome 1
Insulin resistance, Nephrogenic diabetes insipidus, Hypogonadism, Diabetes mellitus OMIM:209900
Trichohepatoenteric Syndrome 1
Splenomegaly, Hypermethioninemia, Abnormality of iron homeostasis, Increased mean platelet volume... OMIM:222470
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hypoketotic hypoglycemia, Eleva... ORPHA:157
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Inguinal hernia, Hypoglycemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia, Pa... OMIM:613658
Chediak-Higashi Syndrome
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... OMIM:214500
Autosomal Recessive Polycystic Kidney Disease
Reduced renal corticomedullary differentiation, Recurrent urinary tract infections, Enlarged kidn... ORPHA:731
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Hypotension, Oliguria, Acute kid... ORPHA:466650
Glycogen Storage Disease Ib
Hyperlipidemia, Neutropenia, Splenomegaly, Hypoglycemia, Hyperuricemia, Xanthelasma, Delayed puberty OMIM:232220
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Cellulitis, Splenomegaly, Granulomatosis, Rectal abscess, Impaired oxidative burst, Liver abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Cellulitis, Splenomegaly, Granulomatosis, Rectal abscess, Impaired oxidative burst, Liver abscess OMIM:233710
Acute Monoblastic/Monocytic Leukemia
Oliguria ORPHA:514
Yellow Fever
Supraventricular arrhythmia, Hematemesis, Shock, Reduced left ventricular ejection fraction, Rena... ORPHA:99829
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, High urinary go... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, High urinary go... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, High urinary go... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, High urinary go... ORPHA:99226
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperinsulinemic hypoglycemia, Hyperb... OMIM:619991
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Flexion contracture of finger, Decreased response to growth hormone stimulation te... OMIM:602782
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Increased serum testosterone level, Type II diabetes mellitu... ORPHA:3455
19P13.12 Microdeletion Syndrome
Hypothyroidism, Precocious puberty, Hyperlipidemia, Arthrogryposis multiplex congenita ORPHA:254346
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Hypoketotic hyp... ORPHA:228308
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Cellulitis, Splenomegaly, Granulomatosis, Rectal abscess, Impaired oxidative burst, Liver abscess OMIM:233690
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Lymphopenia, Abnormal proportion of naive CD4 T cells, Thrombocytopenia, Decrease... ORPHA:1830
Autoimmune Polyendocrinopathy Type 3
Thymoma, Graves disease, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune hypoparathyroidis... ORPHA:227982
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Vacuolated lymphocytes, Splenomegaly, Elevated circulating creatine kinase concen... ORPHA:565612
Glycogen Storage Disease Ia
Hyperlipidemia, Hypoglycemia, Hyperuricemia, Delayed puberty, Fasting hypoglycemia, Xanthelasma OMIM:232200
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Increased serum testosterone level, Lipoatrophy, Flexion con... OMIM:264090
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hyperammonemia, Leu... OMIM:222700
Primary Sclerosing Cholangitis
Splenomegaly, Hepatosplenomegaly, Type I diabetes mellitus, Hypoalbuminemia, Thyroiditis ORPHA:171
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Diabetes mellitus ORPHA:439232
Autoimmune Polyendocrinopathy Type 4
Thymoma, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anem... ORPHA:227990
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Woodhouse-Sakati Syndrome
Hyperlipidemia, Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Hypog... OMIM:241080
Pmm2-Cdg
Multiple joint contractures, Hyperinsulinemia, Elevated circulating growth hormone concentration,... ORPHA:79318
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Cellulitis, Splenomegaly, Granulomatosis, Rectal abscess, Granuloma, Li... OMIM:306400
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Hutchinson-Gilford Progeria Syndrome
Pubertal developmental failure in females, Delayed menarche, Decreased serum leptin, Absence of s... ORPHA:740
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Alagille Syndrome 1
Hypertriglyceridemia, Papillary thyroid carcinoma, Hypercholesterolemia OMIM:118450
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly OMIM:257220
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Splenomegaly OMIM:230600
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion ORPHA:289176
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Precocious puberty, Splenomegaly, Hypocholesterolemia, Hypoalbumin... OMIM:270400
Glycogen Storage Disease Ic
Hyperlipidemia, Hypoglycemia, Hyperuricemia, Xanthelasma, Delayed puberty OMIM:232240
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Niemann-Pick Disease, Type C2
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly OMIM:607625
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Inguinal hernia, Splenomegaly, ... OMIM:619534
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbili... ORPHA:567983
Alström Syndrome
Precocious puberty in females, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, Decre... ORPHA:64
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Thromb... ORPHA:2968
Listeriosis
Splenic abscess, Abscess, Brain abscess, Abnormal cellular immune system morphology, Hepatic gran... ORPHA:533
Granulomatosis With Polyangiitis
Abnormality of the hypothalamus-pituitary axis, Granulomatosis, Elevated circulating C-reactive p... ORPHA:900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth hormone stim... ORPHA:293987
Tropical Endomyocardial Fibrosis
Eosinophilia, Hypoalbuminemia, Splenomegaly ORPHA:75565
Granulomatosis With Polyangiitis
Granulomatosis OMIM:608710
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665

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 Agtrap

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 Agtrap.

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

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