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Gene: Pik3ca MGI:1206581

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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:
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Synonyms:
caPI3K,  6330412C24Rik,  p110alpha

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 Pik3ca mutations

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

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

The table below shows human diseases associated to Pik3ca by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Clapo Syndrome
Failure to thrive, Lymphedema, Capillary hemangioma, Ganglioneuroma, Lymphangioma ORPHA:168984
Breast Cancer
Breast carcinoma OMIM:114480
Lynch Syndrome
Neoplasm of the skin, Death in early adulthood, Neoplasm of the skeletal system, Neoplasm of the ... ORPHA:144
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Venous malformation, Varicose veins OMIM:613089
Cerebral Cavernous Malformations 4
Cerebral cavernous malformation OMIM:619538
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Venous malformation OMIM:612918
Keratosis, Seborrheic
Seborrheic keratosis OMIM:182000
Hemihyperplasia-Multiple Lipomatosis Syndrome
Multiple lipomas, Nephroblastoma, Abnormality of the lymphatic system ORPHA:276280
Meningioma
Secondary growth hormone deficiency, Decreased serum estradiol, Hypothalamic hypothyroidism, Uppe... ORPHA:2495
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Failure to thrive, Meningioma, Neoplasm of th... ORPHA:201
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Visceral angiomatosis, Neoplasm, Failure to thrive ORPHA:60040
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Cowden Syndrome 5
Thyroid adenoma, Subcutaneous lipoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydr... OMIM:615108
Ovarian Cancer
Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma OMIM:167000
Hemimegalencephaly
Optic atrophy ORPHA:99802
Gastric Cancer
Stomach cancer OMIM:613659
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Macrodactyly
OMIM:155500
Nevus, Epidermal
OMIM:162900

The table below shows human diseases predicted to be associated to Pik3ca by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Pituitary hypothyroidism, Decreased response to growth hormone stimulation tes... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Pituitary hypothyroidism, Decreased response to growth hormone stimulation tes... ORPHA:71526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity, Aggressive behavior, Polyphagia, Short stature ORPHA:329249
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesit... ORPHA:140941
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... OMIM:614963
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Polyc... ORPHA:280356
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Polyphagia OMIM:617885
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for... ORPHA:276556
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... OMIM:606762
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu... OMIM:265300
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Obesity, Polyphagia, Decreased serum leptin OMIM:614962
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Neoplasm, Pleural effusion, Abnormality of the lymphatic ... ORPHA:1041
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... ORPHA:435660
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Hepa... OMIM:615980
Hyperinsulinemic Hypoglycemia, Familial, 8
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyper... OMIM:620211
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... OMIM:275000
Type 1 Diabetes Mellitus
Hyperglycemia, Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Lipoat... OMIM:613877
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Postnatal growth retard... OMIM:606407
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ascites, Chylous
Chylous ascites OMIM:208300
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Short s... OMIM:616033
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Desmoplastic Small Round Cell Tumor
Ascites, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Hepatomegaly, Sarcoma, Ovar... ORPHA:83469
Alpha-Heavy Chain Disease
Lymphoma, Ascites, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:100025
Transient Neonatal Diabetes Mellitus
Macroglossia, Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hypergly... ORPHA:99886
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Prader-Willi Syndrome Due To Imprinting Mutation
Short stature, Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased response to growth hormone stimulation test, Obesity, Adrenal insufficienc... OMIM:609734
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptor... ORPHA:3085
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis OMIM:615703
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Postnatal growth retardation, ... ORPHA:73272
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Skeletal muscle atrophy, Choles... OMIM:246200
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Nephrosialidosis
Ascites, Pericardial effusion, Death in childhood OMIM:256150
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, F... ORPHA:35878
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Hypotonia-Cystinuria Syndrome
Polyphagia, Growth delay, Failure to thrive ORPHA:163690
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis, Myopathy ORPHA:79087
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Schaaf-Yang Syndrome
Failure to thrive in infancy, Hypogonadism, Obesity, Cryptorchidism, Polyphagia, Skin-picking, Sh... OMIM:615547
Bangstad Syndrome
Type I diabetes mellitus, Abnormality of the parathyroid gland, Increased circulating cortisol le... ORPHA:1227
Pseudomyxoma Peritonei
Ascites, Weight loss, Lymphadenopathy ORPHA:26790
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Mandibuloacral Dysplasia
Insulin resistance, Increased subcutaneous truncal adipose tissue, Contractures of the large join... ORPHA:2457
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Hepatomegaly, Weight loss, Esophageal neoplasm ORPHA:2198
14Q11.2 Microduplication Syndrome
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior ORPHA:261229
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Short stature, Truncal obesity, Torticollis OMIM:620639
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s... ORPHA:528
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, Severe fail... OMIM:601410
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:151660
Chylous Ascites
Ascites, Neoplasm, Lymphedema ORPHA:1160
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Joubert Syndrome 10
Obesity, Frequent temper tantrums, Decreased body weight, Polyphagia, Short stature, Growth delay OMIM:300804
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fetalis OMIM:619462
Short Stature, Dauber-Argente Type
Short stature, Postnatal growth retardation, Fasting hyperinsulinemia OMIM:619489
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Skeletal muscle hypertrophy, Hepatic steatosis, Myopathy, Polycys... ORPHA:2348
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98754
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... ORPHA:399
Placental Insufficiency
Insulin resistance, Intrauterine growth retardation, Small for gestational age, Proportionate sho... ORPHA:439167
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177904
Infantile Sialic Acid Storage Disease
Failure to thrive, Ascites, Splenomegaly, Death in childhood, Hepatomegaly, Hydrops fetalis OMIM:269920
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177901
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Umbilical hernia, Generalized muscular appearance from birth, Decreased serum... OMIM:608594
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Failure to thrive, Decreased body weight OMIM:620085
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Postnatal growth retardation, Increased hepatic glyco... OMIM:232700
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis, Chylopericardium ORPHA:2414
Fetal Parvovirus Syndrome
Ascites, Increased nuchal translucency, Hydrops fetalis ORPHA:295
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Cryptorchidism, Polyphagia, Motor stereotypy, Paroxysmal bursts of laugh... ORPHA:228402
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Congenital Toxoplasmosis
Failure to thrive in infancy, Hepatomegaly, Lymphadenopathy, Ascites ORPHA:858
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... OMIM:615363
Pediatric-Onset Graves Disease
Polydipsia, Failure to thrive, Graves disease, Goiter, Puberty and gonadal disorders, Intrauterin... ORPHA:525731
Hepatic Veno-Occlusive Disease
Increased body weight, Hepatomegaly, Ascites ORPHA:890
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity, Inappropriate laughter, Hyperactivity ORPHA:411515
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Generalized muscular appearance from birth, Decreased serum leptin, Hyperinsuli... OMIM:269700
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Pancreatic isl... ORPHA:263455
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Oligohydramnios, Polyhydramnios, Splenomegaly ORPHA:1046
Splenoportal Vascular Anomalies
Ascites, Splenomegaly OMIM:271500
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Cryptorchidism, Hepatomegaly, Fe... ORPHA:2849
Cardiomyopathy, Familial Restrictive, 6
Ascites, Hepatomegaly, Hydrops fetalis, Death in infancy OMIM:619433
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Reduced subcutaneous adipose tissue, Myopathy, Hepatic ... ORPHA:280365
Trisomy 18P
Bilateral cryptorchidism, Intrauterine growth retardation, Polyphagia, Attention deficit hyperact... ORPHA:1715
Malignant Peritoneal Mesothelioma
Ascites, Weight loss, Pedal edema, Neoplasm ORPHA:168811
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Postnatal growth retardation, Obe... ORPHA:54595
Lymphoproliferative Syndrome 2
Lymphoma, Ascites, Hepatosplenomegaly, Splenomegaly, Hodgkin lymphoma, Lymphadenopathy, Hepatomeg... OMIM:615122
Intellectual Developmental Disorder, Autosomal Dominant 72
Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder, Facial hypotonia OMIM:620439
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Intrauterine growth retar... OMIM:269880
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... OMIM:608600
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Cryptorchidism, Hepatic steatosis, Lipodystrophy, Loss of ... OMIM:615381
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ... OMIM:613327
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Polydipsia, Insulin-resistant... ORPHA:769
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Hepatomegaly, Hydrops fetalis, Hemangiomatosis, Visceral angiomatosis ORPHA:2123
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity ORPHA:171829
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Abnormal temper tantrums, Precocious puberty, Central hypothyroidism, Fail... ORPHA:398069
Sialidosis Type 2
Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Pedal edema ORPHA:87876
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... ORPHA:79086
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Abnormality of the lymphatic syst... ORPHA:69735
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Abnormal temper tantrums, Premature adrenarche, Precocious puberty, Centra... ORPHA:398079
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Decreased muscle mass, Recurrent hy... ORPHA:813
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Hyperinsulinemia, Splenomegaly ORPHA:66518
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Genera... OMIM:608612
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Ascites, Oligohydramnios, Pleural effusion, Pericardial effusion, Small for ge... OMIM:614702
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hepatomegaly, Small for ge... ORPHA:79237
Free Sialic Acid Storage Disease
Failure to thrive in infancy, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis ORPHA:834
Prader-Willi Syndrome
Self-injurious behavior, Precocious puberty, Class III obesity, Decreased muscle mass, Failure to... OMIM:176270
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Neonatal death OMIM:273680
Silver-Russell Syndrome Due To 11P15 Microduplication
Failure to thrive, Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardatio... ORPHA:231144
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... OMIM:214150
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Polyphagia, Weigh... ORPHA:95427
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:248370
Glycogen Storage Disease Iv
Failure to thrive, Ascites, Hepatosplenomegaly, Polyhydramnios, Hydrops fetalis, Edema OMIM:232500
Secondary Intestinal Lymphangiectasia
Anasarca, Lymphoma, Lymphedema, Pleural effusion, B-cell lymphoma, Chylous ascites, Intestinal ly... ORPHA:90363
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Ascites, Oligohydramnios, Death in infancy, Neonatal death, Hepatomegaly, Edema OMIM:608104
Prader-Willi Syndrome
Small pituitary gland, Premature adrenarche, Precocious puberty, Decreased circulating gonadotrop... ORPHA:739
Wolman Disease
Ascites, Hepatomegaly, Cachexia, Splenomegaly ORPHA:75233
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ... ORPHA:90301
Gracile Bone Dysplasia
Failure to thrive, Ascites, Death in infancy, Asplenia, Hypoplastic spleen OMIM:602361
Luscan-Lumish Syndrome
Obesity, Polycystic ovaries, Polyphagia, Aggressive behavior, Short stature OMIM:616831
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... OMIM:300942
Portal Hypertension, Noncirrhotic, 2
Ascites, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma OMIM:619463
Short Syndrome
Insulin resistance, Severe short stature, Abnormal dental enamel morphology, Inguinal hernia, Lip... ORPHA:3163
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Premature adrenarche, Precocious puberty, Failure to thrive, Decreased muscle... ORPHA:96182
Ovarian Fibroma
Ascites, Pleural effusion, Ovarian fibroma, Odontogenic keratocysts of the jaw, Basal cell carcinoma ORPHA:314473
Focal Segmental Glomerulosclerosis 1
Ascites, Pleural effusion, Edema OMIM:603278
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Mpi-Cdg
Hepatic fibrosis, Failure to thrive, Portal hypertension, Hypothyroidism, Hyperinsulinemic hypogl... ORPHA:79319
Primary Intestinal Lymphangiectasia
Generalized edema, Intestinal lymphangiectasia, Ascites, Pleural effusion, Disseminated cutaneous... ORPHA:90362
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites OMIM:174050
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Skeletal muscle atrophy, Hypogonadism, Slender build, Thyr... ORPHA:902
Bangstad Syndrome
Severe short stature, Insulin-resistant diabetes mellitus, Goiter, Primary gonadal insufficiency,... OMIM:210740
Niemann-Pick Disease, Type A
Failure to thrive, Ascites, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:257200
Seckel Syndrome 10
Insulin resistance, Severe short stature, Elevated circulating luteinizing hormone level, Acute p... OMIM:617253
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Skeletal muscle atrophy, Failure to thrive, Centr... ORPHA:508
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Intrauterine growth retard... ORPHA:71212
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight, Decreased s... OMIM:608747
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Primary gonadal insufficiency, Severe short-limb dwarfism, Insulin-resistant d... ORPHA:436182
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Glucose intoleranc... ORPHA:785
Aggressive Systemic Mastocytosis
Ascites, Hepatosplenomegaly, Hypersplenism, Weight loss, Hematological neoplasm, Lymphadenopathy,... ORPHA:98850
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Ascites, Pleural effusion, Death in infancy, Nonimmune hydrops fetalis OMIM:617049
Angelman Syndrome
Self-injurious behavior, Precocious puberty in females, Delayed menarche, Obesity, Inappropriate ... ORPHA:72
Polyendocrine-Polyneuropathy Syndrome
Proximal muscle weakness in lower limbs, Central hypothyroidism, Hypoglycemia, Decreased serum te... ORPHA:453533
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Congenital Disorder Of Glycosylation, Type Iir
Ascites, Hepatomegaly OMIM:301045
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Pericardial effusion OMIM:608776
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Postnatal growth retardation, Inappropriate laughter, Bruxism, Recurrent... OMIM:156200
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Polyphagia, Delayed puberty, Short stature ORPHA:251004
Hypocomplementemic Urticarial Vasculitis
Lymphoma, Angioedema, Ascites, Pleural effusion, Splenomegaly, Lymphadenopathy, Hepatomegaly, Per... ORPHA:36412
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreatic hypoplasia, Exocrine ... OMIM:260370
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Intestinal lymphangiectasia, P... OMIM:616843
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Neuraminidase Deficiency
Facial edema, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis OMIM:256550
Tafro Syndrome
Anasarca, Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:457077
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Neuroendocrine neoplasm, Ascites, Chronic noninfectious lymphadenopathy, ... ORPHA:100086
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Decreased serum lept... OMIM:615238
Primary Hepatic Neuroendocrine Carcinoma
Neuroendocrine neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Neoplasm of the nervous ... ORPHA:100085
Hemochromatosis, Type 1
Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hepatocellular carcinoma OMIM:235200
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Disproportionate short-limb short stature, Intrauterine growth retardation, I... OMIM:616541
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79444
Ovarian Fibrothecoma
Ascites, Pleural effusion, Diffuse leiomyomatosis, Ovarian fibroma, Fibrosarcoma ORPHA:314478
Poems Syndrome
Visceromegaly, Ascites, Pleural effusion, Splenomegaly, Hemangioma, Weight loss, Lymphadenopathy,... ORPHA:2905
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Ascites, Hepatosplenomegaly, Polyhydramnios, Nonimmune hydrops fetalis, Hepato... ORPHA:367
Wagro Syndrome
Decreased testicular size, Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation OMIM:612469
Griscelli Syndrome
Ascites, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pedal edema ORPHA:381
Combined Oxidative Phosphorylation Deficiency 5
Ascites, Edema, Death in infancy OMIM:611719
Whipple Disease
Insulin resistance, Polydipsia, Splenomegaly, Myositis, Cachexia, Hypothyroidism, Anorexia, Hepat... ORPHA:3452
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Failure to thrive, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatomegaly OMIM:602579
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Intrauterine growth retardation, Reduced subcutaneous adipose tissue, Short s... OMIM:619322
Aromatase Deficiency
Insulin resistance, Obesity, Eunuchoid habitus, Type II diabetes mellitus, Cryptorchidism, Hepati... ORPHA:91
Lymphatic Malformation 12
Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyh... OMIM:620014
Mulibrey Nanism
Hepatomegaly, Ascites, Hydrops fetalis, Nephroblastoma OMIM:253250
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Lymphedema, Pancreatic lymphangiectasis, Ascites, Polyhydramnios, Splenomegaly, Death in infancy,... OMIM:235255
Carney Triad
Adrenocortical adenoma, Ascites, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosarcoma,... ORPHA:139411
Budd-Chiari Syndrome
Ascites, Hepatomegaly, Weight loss, Splenomegaly ORPHA:131
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Postnatal growth retardation, Decreased testicular size, Cryptorchidism, Self-mutilation, Polypha... ORPHA:251028
Familial Atrial Myxoma
Ascites, Cardiac myxoma, Pedal edema ORPHA:615
Alg8-Cdg
Failure to thrive, Ascites, Oligohydramnios, Hydrops fetalis, Small for gestational age, Edema ORPHA:79325
Gaucher Disease, Perinatal Lethal
Ascites, Hepatosplenomegaly, Polyhydramnios, Splenomegaly, Neonatal death, Decreased body weight,... OMIM:608013
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Premature adrenarche, Polydipsia, Central hypothyroidism, Increased circ... ORPHA:293987
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Lower limb muscle weakness, Gluc... OMIM:606721
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating calcitonin concentration, Elevated ... ORPHA:79443
Cholestasis, Progressive Familial Intrahepatic, 3
Ascites, Hepatomegaly, Splenomegaly OMIM:602347
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Obesity, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidis... ORPHA:96121
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the scrotum, Uterine neoplasm, Pelvic mass, Ascites, Neoplasm of the pancreas, Weight... ORPHA:370348
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Truncal obes... OMIM:618160
Klippel-Trénaunay Syndrome
Ascites, Hemangioma, Hepatomegaly, Hydrops fetalis, Edema ORPHA:90308
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ascites, Pleural effusion, Polyhydramnios, Hydrops fetalis, Small for gestational age OMIM:616897
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Generalized edema, Intestinal lymphangiectasia, Ascites, Hepatomegaly, Edema OMIM:226300
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Chondrocalcinosis, Polydipsia, Failure to thrive, G... ORPHA:358
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ascites, Oligohydramnios, Small for gestational age, Nonimmune hydrops fetalis OMIM:617021
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Postnatal growth retardation, Dec... OMIM:616113
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Umbilical hernia, Cryptorchidism, Inguinal h... ORPHA:404448
Eosinophilic Gastroenteritis
Ascites, Weight loss, Edema ORPHA:2070
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Delayed puberty, Calcinosis, Short stature ORPHA:90154
Parkes Weber Syndrome
Arteriovenous malformation, Myelopathy, Vascular tortuosity, Venous malformation, Spinal arteriov... ORPHA:90307
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Bruxism, Intrauterine g... OMIM:615873
Tempi Syndrome
Ascites, Hemangioma, Transudative pleural effusion ORPHA:284227
Monosomy 13Q34
Insulin resistance, Obesity, Growth delay, Hepatic steatosis ORPHA:96168
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Grfoma
Pituitary adenoma, Adrenocortical adenoma, Subcutaneous lipoma, Abnormal abdomen morphology, Neop... ORPHA:97261
Lymphangioleiomyomatosis
Chylothorax, Lymphedema, Ungual fibroma, Ascites, Pulmonary lymphangiomyomatosis, Abnormality of ... ORPHA:538
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Generalized lipodystrophy, ... ORPHA:79474
Hepatoportal Sclerosis
Ascites, Hypersplenism, Splenomegaly, Hepatocellular carcinoma ORPHA:64743
Rett Syndrome
Growth delay, Failure to thrive, Skeletal muscle atrophy, Increased serum leptin, Bruxism, Cholec... ORPHA:778
Weaver Syndrome
Joint contracture of the hand, Umbilical hernia, Diastasis recti, Inguinal hernia, Cryptorchidism... OMIM:277590
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Increased adipose tissue ORPHA:199276
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Obesit... OMIM:209900
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Bloom Syndrome
Insulin resistance, Growth delay, Intrauterine growth retardation, Adipose tissue loss, Severe po... ORPHA:125
Pediatric Systemic Lupus Erythematosus
Ascites, Pleural effusion, Lymphadenopathy, Pericardial effusion, Edema ORPHA:93552
Mucopolysaccharidosis Type 7
Ascites, Hydrops fetalis, Splenomegaly, Lymphedema ORPHA:584
Lymphatic Malformation 13
Lymphedema, Ascites, Neonatal death, Nonimmune hydrops fetalis, Hemangioma, Cavernous hemangioma OMIM:620244
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Fetal ascites, Hydrops fetalis, Stillbirth OMIM:215045
Classic Galactosemia
Hepatomegaly, Ascites ORPHA:79239
Aicardi-Goutieres Syndrome 9
Failure to thrive, Ascites, Hepatosplenomegaly, Weight loss, Hepatomegaly, Pericardial effusion, ... OMIM:619487
1P36 Deletion Syndrome
Self-injurious behavior, Annular pancreas, Failure to thrive, Camptodactyly of finger, Hypogonadi... ORPHA:1606
Glycogen Storage Disease Ixc
Hypoglycemia, Postnatal growth retardation, Splenomegaly, Increased hepatic glycogen content, Cir... OMIM:613027
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Failure to thrive in infancy, Ascites, Hepatosplenomegaly,... ORPHA:79124
Farber Disease
Failure to thrive, Ascites, Hepatosplenomegaly, Joint swelling, Lymphadenopathy, Hydrops fetalis ORPHA:333
Gaucher Disease Type 1
Splenic infarction, Ascites, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Splenic rupture, He... ORPHA:77259
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Short stature, Breast aplasia ORPHA:90153
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Polyhydramnios, Splenomegaly, Pulmonary... ORPHA:1655
Steinert Myotonic Dystrophy
Oral-pharyngeal dysphagia, Hyperinsulinemia, Obsessive-compulsive trait, Pelvic girdle muscle wea... ORPHA:273
Congenital Sialidosis Type 2
Hepatomegaly, Hepatosplenomegaly, Edema, Ascites ORPHA:93400
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous lipoma, Abn... ORPHA:97282
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, Abnormal heart morphology, Cerebral arteriovenous malformation, Arter... ORPHA:137667
Fraser Syndrome 3
Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Stillbirth OMIM:617667
Hennekam Syndrome
Chylothorax, Lymphedema, Ascites, Benign neoplasm of the central nervous system, Splenomegaly, Ly... ORPHA:2136
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Dilatation of mesenteric artery, Transie... OMIM:610655
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Aortic dissection, Mitral valve prolapse, Pulmonary arteriovenous malformation, Stroke, Hepatic a... OMIM:175050
Xfe Progeroid Syndrome
Ascites, Death in adolescence, Cachexia, Failure to thrive OMIM:610965
Ovarian Hyperstimulation Syndrome
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema ORPHA:64739
Thalidomide Embryopathy
Insulin resistance, Short stature ORPHA:3312
Pseudo-Torch Syndrome 2
Hepatomegaly, Pleural effusion, Ascites OMIM:617397
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Ascites, Polyhydramnios, Splenomegaly, Neonatal death, Hepatomegaly, Edema OMIM:269860
Autoimmune Hepatitis
Ascites, Splenomegaly, Hepatocellular carcinoma ORPHA:2137
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Splenomegaly, Failure to thrive, Ascites OMIM:251880
Caroli Disease
Ascites, Splenomegaly, Weight loss, Cholangiocarcinoma, Hepatomegaly ORPHA:53035
Perlman Syndrome
Visceromegaly, Renal hamartoma, Nephroblastomatosis, Ascites, Large for gestational age, Nephrobl... OMIM:267000
Wolcott-Rallison Syndrome
Hepatomegaly, Dehydration, Ascites, Decreased body weight ORPHA:1667
Ppoma
Pituitary adenoma, Adrenocortical adenoma, Subcutaneous lipoma, Abnormal abdomen morphology, Asci... ORPHA:97278
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Ascites, Pleural effusion, Death in infancy, Polyhydramnios, Pericardial effusion OMIM:618183
Osteopetrosis, Autosomal Recessive 5
Ascites, Hepatosplenomegaly, Splenomegaly, Stillbirth, Hepatomegaly OMIM:259720
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Postnatal growth retardat... OMIM:616263
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Postnatal growth retardation, Decreased circulating aldosterone level, Elevate... ORPHA:556037
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Anasarca, Ascites, Pleural effusion, Palpebral edema, Edema, Pedal edema ORPHA:567546
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Ascites OMIM:617394
Necrotizing Enterocolitis
Ascites, Small for gestational age, Edema ORPHA:391673
Turner Syndrome Due To Structural X Chromosome Anomalies
Postnatal growth retardation, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Cir... ORPHA:99413
Turner Syndrome
Postnatal growth retardation, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Cir... ORPHA:881
Mosaic Monosomy X
Postnatal growth retardation, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Cir... ORPHA:99228
Monosomy X
Postnatal growth retardation, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Cir... ORPHA:99226
Intrahepatic Cholestasis Of Pregnancy
Ascites, Small for gestational age ORPHA:69665
Dengue Fever
Hepatomegaly, Ascites ORPHA:99828
Reynolds Syndrome
Hepatomegaly, Xerostomia, Ascites ORPHA:779
Somatostatinoma
Pituitary adenoma, Adrenocortical adenoma, Subcutaneous lipoma, Abnormal abdomen morphology, Asci... ORPHA:97283
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Ascites, Pleural effusion, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:306400
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Ascites ORPHA:2848
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Hepatomegaly, Pericardial effusion, Ascites OMIM:115197
Lysosomal Acid Lipase Deficiency
Failure to thrive, Ascites, Hepatosplenomegaly, Hypersplenism, Cachexia, Weight loss, Dehydration ORPHA:275761
Adams-Oliver Syndrome
Ascites, Failure to thrive ORPHA:974
Immunodeficiency 87 And Autoimmunity
Anasarca, Cervical lymphadenopathy, Ascites, Oligohydramnios, Pleural effusion, Hodgkin lymphoma,... OMIM:619573
Phace Syndrome
Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo... ORPHA:42775
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Ascites, Polyhydramnios, Failure to thrive, Death in infancy OMIM:617156
Immunodeficiency 22
Ascites, Failure to thrive OMIM:615758
Fumarase Deficiency
Ascites, Cutaneous leiomyoma, Polyhydramnios, Failure to thrive OMIM:606812
Cirrhotic Cardiomyopathy
Pulmonary edema, Hepatomegaly, Peripheral edema, Ascites ORPHA:57777
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Hyperinsulinemia, Elevated circulating thyroid-stimulat... OMIM:620185
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Ascites, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestinal polyposis... ORPHA:1052
Primary Sclerosing Cholangitis
Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Weight loss, Cholangiocarcinoma, Hep... ORPHA:171
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Ascites, Death in childhood, Death in infancy, Hypoplasia of the thymus, Perior... OMIM:613177
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Ascites, Polysplenia OMIM:200995
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hydrops fetalis OMIM:614091
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death OMIM:276822
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage ORPHA:49566
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Obesity, Congenital hypothyroidism, Oppositional defiant disorder, Crypt... OMIM:607872
Functioning Gonadotropic Adenoma
Ascites, Pituitary gonadotropic cell adenoma ORPHA:91348
Tyrosinemia, Type I
Failure to thrive, Ascites, Splenomegaly, Hepatomegaly, Hepatocellular carcinoma OMIM:276700
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Skeletal muscle atrophy, Hypogonadism, Decreased testicular... ORPHA:110
Congenital Myopathy 22B, Severe Fetal
Ascites, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Hepatomegaly OMIM:620369
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Ascites, Splenomegaly, Truncal obesity OMIM:301072
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly... ORPHA:64
Glucagonoma
Pituitary adenoma, Adrenocortical adenoma, Subcutaneous lipoma, Abnormal abdomen morphology, Asci... ORPHA:97280
Glycogen Storage Disease Of Heart, Lethal Congenital
Anasarca, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Pericardial effusion OMIM:261740
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Umbilical hernia, Hair-pulling, Polyphagia, Attention... OMIM:620330
Cirrhosis, Familial
Ascites OMIM:215600
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatomegaly, Failure to thrive, Ascites, Hepatocellular carcinoma OMIM:256810
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Primary Biliary Cholangitis
Hepatomegaly, Splenomegaly, Ascites, Hepatocellular carcinoma ORPHA:186
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Liver Disease, Severe Congenital
Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, In... OMIM:619991
Familial Mediterranean Fever
Ascites, Splenomegaly, Lymphadenopathy, Pedal edema ORPHA:342
Nestor-Guillermo Progeria Syndrome
Growth delay, Failure to thrive, Short stature, Flexion contracture, Lipoatrophy, Decreased serum... OMIM:614008
Rajab Interstitial Lung Disease With Brain Calcifications 1
Failure to thrive, Anasarca, Ascites, Slender build, Oligohydramnios, Small for gestational age OMIM:613658
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Severe failure to thrive, Weig... ORPHA:740
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Anasarca, Failure to thrive, Ascites OMIM:203700
Telangiectasia, Hereditary Hemorrhagic, Type 1
Arteriovenous fistulas of celiac and mesenteric vessels, Dilatation of mesenteric artery, Transie... OMIM:187300
Wilson Disease
Edema, Ascites, Splenomegaly, Hepatomegaly, Pedal edema, Hepatocellular carcinoma OMIM:277900
Senior-Boichis Syndrome
Ascites, Hepatosplenomegaly ORPHA:84081
Autosomal Recessive Polycystic Kidney Disease
Ascites, Hepatosplenomegaly, Hypersplenism, Oligohydramnios, Splenomegaly, Hepatoblastoma, Cholan... ORPHA:731
Mitchell-Riley Syndrome
Ascites OMIM:615710
Niemann-Pick Disease, Type C2
Fetal ascites, Polyhydramnios, Splenomegaly, Death in infancy, Death in childhood, Hepatomegaly OMIM:607625
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Abnormal retinal vascular morphology, Retinal neovascularization, Retinal cotton w... ORPHA:247691
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... OMIM:614098
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... ORPHA:906
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth... ORPHA:99827
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Abnormal cerebral vascular morphology, Transient ischemic attack, Pul... ORPHA:774
Niemann-Pick Disease Type C
Fetal ascites, Ascites, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Hydrops fetalis ORPHA:646
Telangiectasia, Hereditary Hemorrhagic, Type 2
Transient ischemic attack, Ischemic stroke, Gastrointestinal angiodysplasia, Spinal arteriovenous... OMIM:600376
Cutis Marmorata Telangiectatica Congenita
Ascites, Capillary hemangioma ORPHA:1556
Atresia Of Urethra
Ascites, Oligohydramnios ORPHA:105
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Ascites ORPHA:464321
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H... ORPHA:340
Tropical Endomyocardial Fibrosis
Ascites, Peripheral edema, Splenomegaly, Cachexia, Hepatomegaly, Pedal edema ORPHA:75565
Pmm2-Cdg
Insulin resistance, Hepatic fibrosis, Failure to thrive, Increased circulating prolactin concentr... ORPHA:79318
Biliary, Renal, Neurologic, And Skeletal Syndrome
Generalized edema, Failure to thrive, Ascites, Polyhydramnios, Splenomegaly, Neonatal death, Hepa... OMIM:619534
Clapo Syndrome
Failure to thrive, Lymphedema, Capillary hemangioma, Ganglioneuroma, Lymphangioma ORPHA:168984
Chronic Graft Versus Host Disease
Ascites, Weight loss, Xerostomia, Pleural effusion ORPHA:99921
Johanson-Blizzard Syndrome
Generalized edema, Failure to thrive, Anasarca, Ascites, Splenomegaly, Death in childhood, Hepato... OMIM:243800
Trichorhinophalangeal Syndrome, Type Ii
Bicuspid aortic valve, Cerebral arteriovenous malformation, Partial anomalous pulmonary venous re... OMIM:150230
Juvenile Polyposis Syndrome
Arteriovenous malformation, Transient ischemic attack, Hepatic arteriovenous malformation, Pulmon... ORPHA:2929
Leukocyte Adhesion Deficiency
Intrauterine growth retardation, Peritonitis, Hyperinsulinemic hypoglycemia, Short stature, Growt... ORPHA:2968
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Ascites, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Edema ORPHA:51608
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Exces... ORPHA:99826
Eisenmenger Syndrome
Generalized edema, Ascites, Peripheral edema, Hepatomegaly, Pedal edema ORPHA:97214
Hellp Syndrome
Hypotension, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage ORPHA:244242
Superficial Siderosis
Subarachnoid hemorrhage, Persistent bleeding after trauma, Abnormal bleeding, Internal hemorrhage ORPHA:247245
Breast Cancer
Breast carcinoma OMIM:114480
Yellow Fever
Abnormal bleeding, Shock, Reduced left ventricular ejection fraction, Excessive bleeding after a ... ORPHA:99829
Lynch Syndrome
Neoplasm of the skin, Death in early adulthood, Neoplasm of the skeletal system, Neoplasm of the ... ORPHA:144
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Venous malformation, Varicose veins OMIM:613089
Tuberous Sclerosis Complex
Aortic aneurysm, Hypertension, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Abnormal bleeding, Aortic dissection, Bruising susceptibility, Umbilic... ORPHA:286
Cerebral Cavernous Malformations 4
Cerebral cavernous malformation OMIM:619538
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Venous malformation OMIM:612918
Keratosis, Seborrheic
Seborrheic keratosis OMIM:182000
Hemihyperplasia-Multiple Lipomatosis Syndrome
Multiple lipomas, Nephroblastoma, Abnormality of the lymphatic system ORPHA:276280
Meningioma
Secondary growth hormone deficiency, Decreased serum estradiol, Hypothalamic hypothyroidism, Uppe... ORPHA:2495
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Failure to thrive, Meningioma, Neoplasm of th... ORPHA:201
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Visceral angiomatosis, Neoplasm, Failure to thrive ORPHA:60040
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Cowden Syndrome 5
Thyroid adenoma, Subcutaneous lipoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydr... OMIM:615108
Ovarian Cancer
Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma OMIM:167000
Hemimegalencephaly
Optic atrophy ORPHA:99802
Gastric Cancer
Stomach cancer OMIM:613659
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Nevus, Epidermal
OMIM:162900
Macrodactyly
OMIM:155500

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 Pik3ca

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 Pik3ca.

No publications found that use IMPC mice or data for Pik3ca.

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
Pik3catm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pik3catm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pik3catm210677(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pik3caem1(IMPC)Ccpcz Inter-exon deletion Mice
Pik3catm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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