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:
p110alpha,  caPI3K,  6330412C24Rik

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 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
Breast Cancer
Breast carcinoma OMIM:114480
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
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Venous malformation, Spinal dysraphism OMIM:612918
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Nephroblastoma, Multiple lipomas ORPHA:276280
Meningioma
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... ORPHA:2495
Keratosis, Seborrheic
Seborrheic keratosis OMIM:182000
Cowden Syndrome
Neoplasm of the central nervous system, Fibroma, Endometrial carcinoma, Follicular thyroid carcin... ORPHA:201
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Neoplasm, Failure to thrive, Visceral angiomatosis ORPHA:60040
Nevus, Epidermal
Numerous nevi OMIM:162900
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Thyroiditis, Hypothyroidism, Thyroid... OMIM:615108
Hemimegalencephaly
Optic atrophy ORPHA:99802
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma, Breast carcinoma OMIM:167000
Gastric Cancer
Stomach cancer OMIM:613659
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Macrodactyly
OMIM:155500

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
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Growth delay, Pituitary hypothyroidism, Cent... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Growth delay, Pituitary hypothyroidism, Cent... ORPHA:71526
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Growth delay, Truncal obesity, ... ORPHA:140941
Acid-Labile Subunit Deficiency
Mild postnatal growth retardation, Insulin insensitivity, Delayed puberty, Decreased serum insuli... OMIM:615961
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Polyphagia, Increased adipose tissue, Type II diabetes mellitus, Childhood-onse... ORPHA:71529
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia, Short stature, Obesity ORPHA:329249
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Leptin Receptor Deficiency
Polyphagia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Abnormal eating be... OMIM:614963
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pol... ORPHA:276575
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Temple Syndrome
Cryptorchidism, Polyphagia, Postnatal growth retardation, Obesity, Small for gestational age, Sho... ORPHA:254516
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatic fibrosis, Loss of g... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity ORPHA:369873
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Decreased testicular size, Hypogona... OMIM:614962
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Muscular dystrophy, Lipodystrophy, Abdominal obesity, Diab... OMIM:615980
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Cholestasis, Obes... OMIM:609734
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperp... ORPHA:276556
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatom... ORPHA:79084
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Macroglossia, Hypothyroidism, Umbilical ... ORPHA:99886
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Secondary Intestinal Lymphangiectasia
Lymphedema, Pleural effusion, Pedal edema, Neoplasm, Chylous ascites, Abnormality of the lymphati... ORPHA:90363
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Short stature, Type II diabetes mellitus, Fail... ORPHA:181393
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Decreased t... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Decreased t... ORPHA:179494
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Primary Intestinal Lymphangiectasia
Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Pedal edema, Weight loss, B-... ORPHA:90362
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Chylothorax, Edema,... OMIM:265300
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Short stature, Splenomegaly, ... OMIM:612526
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Neoplasm of the adrenal gland, Pitui... ORPHA:97279
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, Impaired glucose tolera... OMIM:606721
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Hyperinsulinemic hypoglycemia, Delayed puberty, Dorsocervical fat pad, Short s... OMIM:616033
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Marked muscular hypertrophy, Insulin resist... ORPHA:435660
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Diabetes mellitus, Polyphagia OMIM:222100
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity OMIM:248100
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ascites, Chylous
Chylous ascites OMIM:208300
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Weight loss, Lymphadenopathy, Hepatomeg... ORPHA:83469
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Insulin-resistant diabetes me... OMIM:262190
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Short stature, Obesity ORPHA:177910
Morbid Obesity And Spermatogenic Failure
Obesity, Hepatic steatosis, Type II diabetes mellitus, Insulin resistance OMIM:615703
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue ... OMIM:246200
Alpha-Heavy Chain Disease
Lymphoma, Hepatomegaly, Ascites, Splenomegaly, Lymphadenopathy ORPHA:100025
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Polycystic ovaries, Sh... ORPHA:3085
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pleural effusion, Pericardial effusion, Neoplasm, Small for gestation... ORPHA:1041
Acquired Partial Lipodystrophy
Hepatic steatosis, Myopathy, Lipoatrophy, Insulin resistance ORPHA:79087
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hypotonia-Cystinuria Syndrome
Growth delay, Polyphagia, Failure to thrive ORPHA:163690
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Nephrosialidosis
Pericardial effusion, Death in childhood, Ascites OMIM:256150
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Marked muscular hypertrophy, Hepatic steatosis, Lipodystrophy, Insulin-re... ORPHA:435651
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pseudomyxoma Peritonei
Ascites, Weight loss, Lymphadenopathy ORPHA:26790
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Insulin-resista... OMIM:604367
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Polyphagia, Hypergonadotropic hypogonadism, Facial palsy, Failure to thriv... OMIM:606407
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Isolated Growth Hormone Deficiency, Type V
Postnatal growth retardation, Truncal obesity, Short stature, Abdominal obesity, Decreased respon... OMIM:618160
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Postnatal growth retardation, Severe intrauterine growth retardation, Hypogly... ORPHA:73272
Chylous Ascites
Neoplasm, Lymphedema, Ascites ORPHA:1160
Congenital Generalized Lipodystrophy
Macroglossia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Skeletal muscle hypertrophy, Adipo... ORPHA:528
Schaaf-Yang Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Polyphagia, Camptodactyly, Flexion contractur... OMIM:615547
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Marked muscular hypertrophy, Insulin resistance, Skeletal muscle hy... ORPHA:79083
Mandibuloacral Dysplasia
Increased intraabdominal fat, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Increase... ORPHA:2457
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Esophageal neoplasm, Ascites, Weight loss ORPHA:2198
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hepatosplenomegaly, Ascites OMIM:600461
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Hepatic s... ORPHA:363400
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia, Intrauterine growt... OMIM:601410
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Weight loss OMIM:275000
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Atypical scarring of skin, Type II diabetes mellitu... ORPHA:791
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... OMIM:260370
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Skeletal muscle hypertrophy, Hepatic steatosis, Lipoatrophy, Lipo... ORPHA:2348
Glycogen Storage Disease Vi
Hypoglycemia, Postnatal growth retardation, Hepatomegaly, Failure to thrive in infancy, Increased... OMIM:232700
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Hyperglycemia, Polydipsia, Obesity OMIM:615986
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Hepatomegaly, Death in childhood, Ascites, Failure to thrive, Splenomegaly OMIM:269920
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Ascites ORPHA:295
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Lipodystrophy, Familial Partial, Type 2
Increased intraabdominal fat, Hyperinsulinemia, Skeletal muscle hypertrophy, Adipose tissue loss,... OMIM:151660
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Postnatal growth retardation, Short stature, Hypogonadism OMIM:616113
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, Ascites, Failure to thrive OMIM:617156
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Cirrhosis, Hyperinsulinemia, Polyphagia, Reduced intraabdominal adipose t... OMIM:608594
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Failure to thrive in infancy, Lymphadenopathy ORPHA:858
Lymphoproliferative Syndrome 2
Lymphoproliferative disorder, Lymphoma, Hepatomegaly, Hodgkin lymphoma, Ascites, Splenomegaly, He... OMIM:615122
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Cirrhosis, Hyperinsulinemia, Polyphagia, Reduced intraabdominal adipose t... OMIM:269700
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Weight loss, Type II diabetes mellitus, Insulin resistance, Abnorm... ORPHA:2298
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Increased body weight ORPHA:890
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Polyphagia... ORPHA:525731
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:98754
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Proximal upper limb muscle hypertrophy, Insulin resistance, Incr... ORPHA:280365
Malignant Peritoneal Mesothelioma
Neoplasm, Pedal edema, Ascites, Weight loss ORPHA:168811
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:98793
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly OMIM:273680
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:177901
Craniopharyngioma
Polyphagia, Proportionate short stature, Enlarged pituitary gland, Growth delay, Pituitary hypoth... ORPHA:54595
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Flexion contracture, Increased adipose tissue aroun... OMIM:248370
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Splenoportal Vascular Anomalies
Ascites, Splenomegaly OMIM:271500
Glycogen Storage Disease Iv
Polyhydramnios, Hydrops fetalis, Edema, Ascites, Failure to thrive, Hepatosplenomegaly OMIM:232500
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Ascites, Oligohydramnios, Splenomegaly ORPHA:1046
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancrea... ORPHA:2849
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Skeletal muscle hypertrophy, Hepatic steatosis, Lipoatrophy, Lipod... ORPHA:90970
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Hemangiomatosis, Hepatomegaly, Ascites, Visceral angiomatosis ORPHA:2123
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Macroglossia, Insulin resistance, Enlarged ovaries, Hypothyroidism, Increas... ORPHA:769
Placental Insufficiency
Intrauterine growth retardation, Small for gestational age, Insulin resistance, Proportionate sho... ORPHA:439167
Prader-Willi-Like Syndrome
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:398073
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Insulin resistance, Hepatic steatosis, Lipodystrophy, Flexion contracture, Hepato... OMIM:615381
Sialidosis Type 2
Hydrops fetalis, Pedal edema, Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Insulin-resista... ORPHA:79086
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Skeletal muscle hypertrophy, Muscular dystrophy, Flexion co... OMIM:613327
Silver-Russell Syndrome
Cryptorchidism, Decreased muscle mass, Insulin resistance, Premature adrenarche, Postnatal growth... ORPHA:813
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Short stature, Splenomegaly ORPHA:66518
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Trisomy 18P
Polyphagia, Bilateral cryptorchidism, Facial palsy, Short stature, Intrauterine growth retardation ORPHA:1715
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Hepatomegaly, Ascites, Splenomegaly, Chylopericardium ORPHA:2414
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegaly, Small for gestation... ORPHA:79237
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Hepatomegaly, Edema, Ascites, Failure to thrive, Hepatosplenomegaly OMIM:608776
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity ORPHA:411515
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Cryptorchidism, Polyphagia, Premature pubarche, Premature adrenarche, Central ... ORPHA:398079
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Palpebral edema, Pleural effusion, Predominantly lower limb lymphedema, Ascites,... ORPHA:69735
Huntington Disease
Choking episodes, Decreased body mass index, Polyphagia, Weight loss, Oral-pharyngeal dysphagia ORPHA:399
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Cryptorchidism, Polyphagia, Premature pubarche, Central hypothyroidism, Hypoth... ORPHA:398069
Combined Oxidative Phosphorylation Deficiency 5
Edema, Death in infancy, Ascites OMIM:611719
Secondary Short Bowel Syndrome
Polyphagia, Growth delay, Central hypothyroidism, Weight loss, Cholestasis, Failure to thrive, Pr... ORPHA:95427
Wolman Disease
Hepatomegaly, Ascites, Cachexia, Splenomegaly ORPHA:75233
Prader-Willi Syndrome
Abdominal obesity, Cryptorchidism, Decreased muscle mass, Hyperinsulinemia, Polyphagia, Failure t... OMIM:176270
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... ORPHA:90301
Prader-Willi Syndrome
Abdominal obesity, Cryptorchidism, Polyphagia, Premature pubarche, Premature adrenarche, Central ... ORPHA:739
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Diastasis recti, Neonatal hypoglycemia, Hypoglycemia, Postnatal growth retardation, Decreased bod... ORPHA:231140
Retinal Venous Beading
Retinal neovascularization, Retinal infarction, Vitreous hemorrhage, Abnormal distribution of ret... OMIM:180080
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
Pick Disease Of Brain
Polyphagia OMIM:172700
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Weight loss, Severe short s... ORPHA:3163
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Failure to thrive OMIM:602579
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Frontotemporal Dementia
Polyphagia OMIM:600274
Bangstad Syndrome
Goiter, Severe short stature, Insulin-resistant diabetes mellitus, Small for gestational age, Pri... OMIM:210740
Free Sialic Acid Storage Disease
Hydrops fetalis, Failure to thrive in infancy, Hepatomegaly, Ascites, Splenomegaly ORPHA:834
2Q23.1 Microdeletion Syndrome
Cryptorchidism, Growth delay, Polyphagia, Short stature ORPHA:228402
Ovarian Fibroma
Basal cell carcinoma, Odontogenic keratocysts of the jaw, Pleural effusion, Ascites, Ovarian fibroma ORPHA:314473
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Postnatal growth retardation, Umbilical hernia, Small for... ORPHA:231144
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Cryptorchidism, Decreased muscle mass, Oral aversion, Insulin resistance, P... ORPHA:96182
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Severe short-limb dwarfism, Primary gonadal insufficiency, Insulin-resistant d... ORPHA:436182
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Pos... ORPHA:508
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Breast hypoplasi... ORPHA:785
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Weight lo... ORPHA:100086
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites OMIM:301045
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Luscan-Lumish Syndrome
Polycystic ovaries, Polyphagia, Short stature, Obesity OMIM:616831
Xfe Progeroid Syndrome
Ascites, Cachexia OMIM:610965
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Neuraminidase Deficiency
Hydrops fetalis, Facial edema, Hepatomegaly, Ascites, Splenomegaly OMIM:256550
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Polyphagia, Delayed puberty, Short stature, Obesity ORPHA:251004
Hypervitaminosis A, Susceptibility To
Ascites OMIM:240150
Aggressive Systemic Mastocytosis
Weight loss, Hematological neoplasm, Ascites, Hypersplenism, Leukemia, Hepatosplenomegaly, Lympha... ORPHA:98850
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Proportionate short ... ORPHA:71212
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Oligohydramnios, Ascites, Failure to thrive OMIM:608104
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic hypogonadism, ... OMIM:203800
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites OMIM:174050
Werner Syndrome
Slender build, Ovarian neoplasm, Insulin resistance, Chondrocalcinosis, Abnormal testis morpholog... ORPHA:902
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Pleural effusion, Facial edema, Chylothorax, Edema, Ascites, Nonimmun... OMIM:616843
Hypocomplementemic Urticarial Vasculitis
Pleural effusion, Pericardial effusion, Lymphoma, Hepatomegaly, Ascites, Splenomegaly, Angioedema... ORPHA:36412
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Obesity,... ORPHA:79444
Primary Hepatic Neuroendocrine Carcinoma
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Weight loss, Neo... ORPHA:100085
Hemochromatosis, Type 1
Pleural effusion, Hepatocellular carcinoma, Hepatomegaly, Ascites, Splenomegaly OMIM:235200
Niemann-Pick Disease, Type A
Hepatomegaly, Ascites, Failure to thrive, Splenomegaly, Lymphadenopathy OMIM:257200
Griscelli Syndrome
Pedal edema, Hepatomegaly, Ascites, Splenomegaly, Lymphadenopathy ORPHA:381
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Polyphagia... ORPHA:251937
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Pancreatic lymphangiectasis, Lymphedema, Death in infancy, Hepatomegaly, Thyroid ... OMIM:235255
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Insulin resistance, Hypothyroidism, Truncal obesity, Inguinal hernia, Short statu... OMIM:616541
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Ovarian Fibrothecoma
Pleural effusion, Fibrosarcoma, Ascites, Diffuse leiomyomatosis, Ovarian fibroma ORPHA:314478
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Leiomyosarcoma, Paragang... ORPHA:139411
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Ascites, Failure to thrive OMIM:602361
Mental Retardation, Autosomal Dominant 1
Polyphagia, Short stature, Postnatal growth retardation OMIM:156200
Poems Syndrome
Lymphoproliferative disorder, Hemangioma, Pleural effusion, Pericardial effusion, Visceromegaly, ... ORPHA:2905
Aromatase Deficiency
Cryptorchidism, Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Growth del... ORPHA:91
Mulibrey Nanism
Hepatomegaly, Hydrops fetalis, Nephroblastoma, Ascites OMIM:253250
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Hepatomegaly, Ascites, Failure to thrive, Nonimmune hydrops fetalis, Hepatospleno... ORPHA:367
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Stillbirth, Splenomegaly OMIM:259720
Klippel-Trénaunay Syndrome
Hemangioma, Hydrops fetalis, Hepatomegaly, Edema, Ascites ORPHA:90308
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Obesity,... ORPHA:79443
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Whipple Disease
Insulin resistance, Hypothyroidism, Hepatomegaly, Cachexia, Splenomegaly, Myositis, Polydipsia ORPHA:3452
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Weight loss, Splenomegaly ORPHA:131
Grfoma
Intestinal carcinoid, Subcutaneous lipoma, Adrenocortical adenoma, Zollinger-Ellison syndrome, Ph... ORPHA:97261
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... OMIM:615925
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Growth delay, Short stature, Intrauterine growth retardation, Reduced subcuta... OMIM:619322
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Maturity-onset diabetes of the young, Postnatal growth retardation, Truncal obesi... ORPHA:96184
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Calcinosis, Delayed puberty, Short stature, Generalized lipodystrophy ORPHA:90154
Familial Atrial Myxoma
Pedal edema, Ascites, Cardiac myxoma ORPHA:615
Galactosemia
Hepatomegaly, Ascites, Failure to thrive ORPHA:352
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Spinal cord tumor, Weight loss, Uterine neoplasm, Pelvic mass, Brain neoplasm, ... ORPHA:370348
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Ascites, Failure to thrive, Splenomegaly OMIM:251880
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polyphagia, Premature adrenarche, Polydipsia, Central hypothyroidism, Decreased response to growt... ORPHA:293987
Gitelman Syndrome
Maternal diabetes, Graves disease, Glucose intolerance, Insulin resistance, Chondrocalcinosis, Pr... ORPHA:358
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Pleural effusion, Small for gestational age, Ascites OMIM:616897
Immunodeficiency 54
Postnatal growth retardation, Adrenocorticotropic hormone excess, Adrenal insufficiency, Hepatome... OMIM:609981
Angelman Syndrome
Polyphagia, Dysphagia, Delayed menarche, Precocious puberty in females, Obesity ORPHA:72
Eosinophilic Gastroenteritis
Edema, Ascites, Weight loss ORPHA:2070
Tempi Syndrome
Hemangioma, Ascites, Transudative pleural effusion ORPHA:284227
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cryptorchidism, Decreased testicular size, Polyphagia, Postnatal growth retardation ORPHA:251028
Short Syndrome
Glucose intolerance, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Inguinal he... OMIM:269880
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Decreased body weight, Hepatomegaly, Ascites, Nonimmune hydrops fetalis, Splenome... OMIM:608013
Monosomy 13Q34
Obesity, Hepatic steatosis, Growth delay, Insulin resistance ORPHA:96168
7Q11.23 Microduplication Syndrome
Cryptorchidism, Polyphagia, Growth delay, Inguinal hernia, Short stature, Congenital diaphragmati... ORPHA:96121
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Lymphangioleiomyomatosis
Renal neoplasm, Lymphedema, Renal angiomyolipoma, Retinal hamartoma, Ungual fibroma, Ascites, Chy... ORPHA:538
Atypical Werner Syndrome
Ovarian neoplasm, Delayed puberty, Type II diabetes mellitus, Skeletal muscle atrophy, Generalize... ORPHA:79474
Bloom Syndrome
Premature ovarian insufficiency, Insulin resistance, Growth delay, Adipose tissue loss, Small for... ORPHA:125
Mucopolysaccharidosis Type 7
Lymphedema, Hydrops fetalis, Ascites, Splenomegaly ORPHA:584
Perlman Syndrome
Polyhydramnios, Nephroblastomatosis, Visceromegaly, Nephroblastoma, Renal hamartoma, Ascites, Ede... OMIM:267000
Pediatric Systemic Lupus Erythematosus
Pleural effusion, Pericardial effusion, Edema, Ascites, Lymphadenopathy ORPHA:93552
Vipoma
Subcutaneous lipoma, Adrenocortical adenoma, Ganglioneuroma, Abnormal abdomen morphology, Follicu... ORPHA:97282
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Pericardial effusion, Ascites, Pulmonary edema OMIM:115197
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Hepatomegaly, Absence of lymph node germinal center, Ascites, Hepat... ORPHA:79124
Gaucher Disease Type 1
Pericardial effusion, Pedal edema, Hepatomegaly, Ascites, Hypersplenism, Splenomegaly ORPHA:77259
Congenital Sialidosis Type 2
Hepatomegaly, Hepatosplenomegaly, Edema, Ascites ORPHA:93400
Farber Disease
Hydrops fetalis, Joint swelling, Ascites, Failure to thrive, Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Growth delay, Decreased testicular size, Streak ovary, Insulin-... ORPHA:3464
Classic Galactosemia
Hepatomegaly, Ascites ORPHA:79239
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Polyhydramnios, Pancreatic lymphangiectasis, Hepatomegaly, Pulmonary lymphangiectasia, Ascites, S... ORPHA:1655
Ppoma
Intestinal carcinoid, Subcutaneous lipoma, Adrenocortical adenoma, Abnormal abdomen morphology, W... ORPHA:97278
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Breast aplasia, Short stature, Insulin resistance ORPHA:90153
Adnp Syndrome
Cryptorchidism, Polyphagia, Umbilical hernia, Oral-pharyngeal dysphagia, Truncal obesity, Inguina... ORPHA:404448
Necrotizing Enterocolitis
Edema, Small for gestational age, Ascites ORPHA:391673
Parkes Weber Syndrome
Arteriovenous fistula, Cerebral arteriovenous malformation, Abnormal lymphatic vessel morphology,... ORPHA:90307
Ovarian Hyperstimulation Syndrome
Pleural effusion, Peripheral edema, Pulmonary edema, Ascites, Generalized edema ORPHA:64739
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
Pseudo-Torch Syndrome 2
Hepatomegaly, Ascites OMIM:617397
1P36 Deletion Syndrome
Camptodactyly of finger, Cryptorchidism, Polyphagia, Hypothyroidism, Dysphagia, Hepatic steatosis... ORPHA:1606
Caroli Disease
Weight loss, Hepatomegaly, Ascites, Cholangiocarcinoma, Splenomegaly ORPHA:53035
Autoimmune Hepatitis
Hepatocellular carcinoma, Ascites, Splenomegaly ORPHA:2137
Thalidomide Embryopathy
Short stature, Insulin resistance ORPHA:3312
Somatostatinoma
Subcutaneous lipoma, Adrenocortical adenoma, Medullary thyroid carcinoma, Abnormal abdomen morpho... ORPHA:97283
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Steinert Myotonic Dystrophy
Male hypogonadism, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Skeletal muscl... ORPHA:273
Hennekam Syndrome
Hydrops fetalis, Benign neoplasm of the central nervous system, Lymphedema, Pericardial effusion,... ORPHA:2136
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Generalized edema, Edema, Ascites OMIM:226300
Dengue Fever
Hepatomegaly, Ascites ORPHA:99828
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Postnatal growth retardation, Increased circulating renin level,... ORPHA:556037
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Hamartoma of tongue, Hepatomegaly, Neonatal death, Edema, Ascites, Splenomegaly OMIM:269860
Wolcott-Rallison Syndrome
Hepatomegaly, Dehydration, Ascites, Decreased body weight ORPHA:1667
Reynolds Syndrome
Hepatomegaly, Xerostomia, Ascites ORPHA:779
Rett Syndrome
Increased serum leptin, Failure to thrive, Skeletal muscle atrophy, Cholecystitis ORPHA:778
Tyrosinemia, Type I
Hepatocellular carcinoma, Hepatomegaly, Ascites, Failure to thrive, Splenomegaly OMIM:276700
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Postnatal growth retardation, Increased circulating renin level,... ORPHA:556030
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Hepatic arteriovenous malformation, Aortic dissection, Mitra... OMIM:175050
Capillary Malformation-Arteriovenous Malformation
Arteriovenous fistula, Cerebral arteriovenous malformation, Abnormal heart morphology, Peripheral... ORPHA:137667
Intrahepatic Cholestasis Of Pregnancy
Small for gestational age, Ascites ORPHA:69665
Adams-Oliver Syndrome
Ascites, Failure to thrive ORPHA:974
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Solitary Fibrous Tumor/Hemangiopericytoma
Abnormality of the peritoneum, Weight loss, Hypoglycemia, Hypoinsulinemia, Neoplasm of the liver,... ORPHA:2126
Mosaic Variegated Aneuploidy Syndrome
Polyhydramnios, Myelodysplasia, Neoplasm, Increased nuchal translucency, Nephroblastoma, Stomach ... ORPHA:1052
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Ascites OMIM:614091
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Polysplenia, Ascites OMIM:200995
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Thyroiditis, Postnatal growth retardation, Failure to thrive in ... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Thyroiditis, Postnatal growth retardation, Failure to thrive in ... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Thyroiditis, Postnatal growth retardation, Failure to thrive in ... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Thyroiditis, Postnatal growth retardation, Failure to thrive in ... ORPHA:99226
Primary Sclerosing Cholangitis
Pleural effusion, Hepatocellular carcinoma, Weight loss, Hepatomegaly, Splenomegaly, Ascites, Cho... ORPHA:171
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Anasarca, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites ORPHA:567546
Lysosomal Acid Lipase Deficiency
Weight loss, Dehydration, Cachexia, Failure to thrive, Hypersplenism, Ascites, Hepatosplenomegaly ORPHA:275761
Phace Syndrome
Abnormal carotid artery morphology, Cerebral arteriovenous malformation, Abnormal heart morpholog... ORPHA:42775
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Tachycardia, Gingival bleeding, Abnormal umbilical stump ... ORPHA:335
Glucagonoma
Subcutaneous lipoma, Adrenocortical adenoma, Abnormal abdomen morphology, Weight loss, Hepatomega... ORPHA:97280
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Functioning Gonadotropic Adenoma
Ascites, Pituitary gonadotropic cell adenoma ORPHA:91348
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Anasarca, Pleural effusion, Pericardial effusion, Ascites OMIM:618183
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral arteriovenous malformation, Venous varicosities of celiac and mesenteric vessels, Spinal... OMIM:610655
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Ascites OMIM:261740
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Pleural effusion, Pericardial effusion, Fetal ascites ORPHA:292
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Shock, Prolonged prothrombin time ORPHA:49566
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Oligohydramnios, Ascites, Failure to thrive OMIM:613658
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Familial Mediterranean Fever
Pedal edema, Ascites, Lymphadenopathy, Splenomegaly ORPHA:342
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:257220
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:607625
Autosomal Recessive Polycystic Kidney Disease
Oligohydramnios, Splenomegaly, Ascites, Hypersplenism, Cholangiocarcinoma, Hepatosplenomegaly, He... ORPHA:731
Hutchinson-Gilford Progeria Syndrome
Decreased serum leptin, Insulin resistance, Pubertal developmental failure in females, Absence of... ORPHA:740
Chromosome 1P36 Deletion Syndrome
Camptodactyly of finger, Cryptorchidism, Polyphagia, Hypothyroidism, Camptodactyly, Growth delay,... OMIM:607872
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Hepatocellular Carcinoma
Anasarca, Pedal edema, Weight loss, Neoplasm, Hepatomegaly, Ascites ORPHA:88673
Primary Biliary Cholangitis
Hepatocellular carcinoma, Ascites ORPHA:186
Niemann-Pick Disease Type C
Hydrops fetalis, Fetal ascites, Hepatomegaly, Ascites, Splenomegaly, Hepatosplenomegaly ORPHA:646
Early-Onset Schizophrenia
Polyphagia ORPHA:96369
D-Bifunctional Protein Deficiency
Polyhydramnios, Fetal ascites, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:261515
Tenorio Syndrome
Hypoinsulinemia, Macroglossia, Hypoglycemia OMIM:616260
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal neovascularization, Retinal cotton wool spot, Macular edema, Abnormal retinal vascular mo... ORPHA:247691
Cutis Marmorata Telangiectatica Congenita
Ascites, Capillary hemangioma ORPHA:1556
Tropical Endomyocardial Fibrosis
Peripheral edema, Pedal edema, Hepatomegaly, Ascites, Cachexia, Splenomegaly ORPHA:75565
Wiskott-Aldrich Syndrome
Arrhythmia, Prolonged bleeding time, Internal hemorrhage, Purpura, Intracranial hemorrhage, Hemat... ORPHA:906
Atresia Of Urethra
Ascites, Oligohydramnios ORPHA:105
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal arteriovenous malformation, Cerebral arteriovenous malformation, Hepatic arterio... OMIM:187300
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Aplasia of the ovary, Insuli... ORPHA:79318
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Ascites ORPHA:464321
Chronic Graft Versus Host Disease
Xerostomia, Pleural effusion, Ascites, Weight loss ORPHA:99921
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia, Growth delay, Short stature, Intrauterine growth reta... ORPHA:2968
Telangiectasia, Hereditary Hemorrhagic, Type 2
Gastrointestinal arteriovenous malformation, Cerebral arteriovenous malformation, Hepatic arterio... OMIM:600376
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Hydrops fetalis, Pericardial effusion, Failure to thrive in infancy, Edema, Ascites ORPHA:51608
Juvenile Polyposis Syndrome
Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Arteriovenous malformat... ORPHA:2929
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Prolonged prothrombin time, Internal hemorrhage ORPHA:244242
Eisenmenger Syndrome
Peripheral edema, Pedal edema, Hepatomegaly, Ascites, Generalized edema ORPHA:97214
Breast Cancer
Breast carcinoma OMIM:114480
Superficial Siderosis
Persistent bleeding after trauma, Abnormal bleeding, Subarachnoid hemorrhage, Internal hemorrhage ORPHA:247245
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
Congenital Tracheal Stenosis
Polyhydramnios, Fetal ascites, Oligohydramnios ORPHA:141127
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
Tuberous Sclerosis Complex
Hypertension, Aortic aneurysm, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Arterial stenosis, Internal hemorrhage, Renovascular hypertension, Umbilical h... ORPHA:286
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Venous malformation, Spinal dysraphism OMIM:612918
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Nephroblastoma, Multiple lipomas ORPHA:276280
Meningioma
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... ORPHA:2495
Keratosis, Seborrheic
Seborrheic keratosis OMIM:182000
Cowden Syndrome
Neoplasm of the central nervous system, Fibroma, Endometrial carcinoma, Follicular thyroid carcin... ORPHA:201
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Neoplasm, Failure to thrive, Visceral angiomatosis ORPHA:60040
Nevus, Epidermal
Numerous nevi OMIM:162900
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Thyroiditis, Hypothyroidism, Thyroid... OMIM:615108
Hemimegalencephaly
Optic atrophy ORPHA:99802
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma, Breast carcinoma OMIM:167000
Gastric Cancer
Stomach cancer OMIM:613659
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
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.

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MGI Allele Allele Type Produced
Pik3catm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Pik3catm210677(L1L2_Bact_P) Targeting vectors
Pik3catm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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