banner
Genes Phenotypes Help, News, Blog

Gene: Pik3ca MGI:1206581

Log in to follow
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
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
Varicose veins, Venous malformation OMIM:613089
Lynch Syndrome
Benign neoplasm of the central nervous system, Death in infancy, Pancreatic adenocarcinoma, Death... ORPHA:144
Cerebral Cavernous Malformations 4
Cerebral cavernous malformation OMIM:619538
Keratosis, Seborrheic
Seborrheic keratosis OMIM:182000
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy... ORPHA:2495
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Venous malformation, Spinal dysraphism OMIM:612918
Hemihyperplasia-Multiple Lipomatosis Syndrome
Multiple lipomas, Nephroblastoma, Abnormality of the lymphatic system ORPHA:276280
Cowden Syndrome
Endometrial carcinoma, Follicular thyroid carcinoma, Cavernous hemangioma, Breast carcinoma, Hama... ORPHA:201
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Visceral angiomatosis, Failure to thrive, Neoplasm ORPHA:60040
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Su... OMIM:615108
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Hemimegalencephaly
Optic atrophy ORPHA:99802
Colorectal Cancer
Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder OMIM:114500
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
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Macrodactyly
OMIM:155500
Nevus, Epidermal
OMIM:162900
Gastric Cancer
OMIM:613659

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
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Insulin resistance, Growth delay, Truncal obesity, ... ORPHA:140941
Acid-Labile Subunit Deficiency
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Mild postnatal growth retard... OMIM:615961
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... ORPHA:71529
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Leptin Receptor Deficiency
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Hypergon... OMIM:614963
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Polyphagia, Obesity OMIM:620195
Obesity Due To Sim1 Deficiency
Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity di... ORPHA:369873
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Type... ORPHA:276575
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hor... ORPHA:171706
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas ORPHA:2398
Temple Syndrome
Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ... ORPHA:254516
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia OMIM:617885
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... ORPHA:79084
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism, Polyphagia, Decreased testicular size OMIM:614962
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Hydrops Fetalis
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Small f... ORPHA:1041
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... ORPHA:97279
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... ORPHA:435660
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Short stature, Lipodystroph... OMIM:612526
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... ORPHA:276608
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia OMIM:222100
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Lower limb muscle weakness, Insulin re... OMIM:615980
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Skeletal mus... OMIM:613877
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal... OMIM:606407
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Ascites, Chylous
Chylous ascites OMIM:208300
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Short stature, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypo... OMIM:616033
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Cachexia, Mediastinal lymphadenopath... ORPHA:83469
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435651
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin resista... ORPHA:79085
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites ORPHA:100025
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus, Obesity OMIM:615703
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Short stature, Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant dia... OMIM:262190
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity, Short stature ORPHA:177910
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardati... ORPHA:73272
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Donohue Syndrome
Skeletal muscle atrophy, Postnatal growth retardation, Precocious puberty, Adipose tissue loss, H... OMIM:246200
Nephrosialidosis
Pericardial effusion, Ascites, Death in childhood OMIM:256150
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hyperinsulinemia, Obesity, Polycys... ORPHA:3085
Hypotonia-Cystinuria Syndrome
Growth delay, Failure to thrive, Polyphagia ORPHA:163690
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Reduced intraabdominal adipose ... ORPHA:363400
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,... ORPHA:300373
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Acquired Partial Lipodystrophy
Myopathy, Insulin resistance, Hepatic steatosis, Lipoatrophy ORPHA:79087
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... ORPHA:35878
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Schaaf-Yang Syndrome
Short stature, Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Ob... OMIM:615547
Pseudomyxoma Peritonei
Weight loss, Ascites, Lymphadenopathy ORPHA:26790
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... ORPHA:1227
14Q11.2 Microduplication Syndrome
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism ORPHA:261229
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Hepatomegaly, Ascites, Weight loss ORPHA:2198
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue los... ORPHA:528
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Diabet... ORPHA:79083
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Intrauterine growth retardation, Hyperglycemia, Transient neonatal diab... OMIM:601410
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... ORPHA:2348
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... OMIM:151660
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab... ORPHA:791
Chylous Ascites
Neoplasm, Ascites, Lymphedema ORPHA:1160
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis OMIM:619462
Placental Insufficiency
Intrauterine growth retardation, Insulin resistance, Small for gestational age, Proportionate sho... ORPHA:439167
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodys... OMIM:608594
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... ORPHA:399
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia OMIM:615986
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature OMIM:619489
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Splenomegaly, Hydrops fetalis, Death in childhood, Ascites OMIM:269920
Familial Renal Glucosuria
Insulin resistance, Moderate postnatal growth retardation, Abnormal circulating insulin concentra... ORPHA:69076
Glycogen Storage Disease Vi
Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Postnatal growth retardation, Increased... OMIM:232700
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Splenomegaly, Jaundice, Thyrotoxicosi... ORPHA:525731
Fetal Parvovirus Syndrome
Increased nuchal translucency, Ascites, Hydrops fetalis ORPHA:295
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Failure to thrive in infancy, Lymphadenopathy ORPHA:858
2Q23.1 Microdeletion Syndrome
Hyperactivity, Short stature, Abnormal repetitive mannerisms, Cryptorchidism, Growth delay, Self-... ORPHA:228402
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Increased body weight ORPHA:890
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Ascites, Hydrops fetalis, Death in infancy OMIM:619433
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Reduced int... OMIM:269700
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity ORPHA:411515
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased intraabdominal fat, Hepatic steatosis, Muscle hypertrophy of the lower extremities, Hep... ORPHA:280365
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Polyhydramnios, Oligohydramnios ORPHA:1046
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Agi... ORPHA:263455
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites ORPHA:2414
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Splenoportal Vascular Anomalies
Splenomegaly, Ascites OMIM:271500
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Hyperinsulinemia, Abnormal pancrea... ORPHA:2849
Malignant Peritoneal Mesothelioma
Neoplasm, Ascites, Pedal edema, Weight loss ORPHA:168811
Lymphoproliferative Syndrome 2
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphoma, Hodgkin lymphoma, Lymphadenop... OMIM:615122
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... OMIM:608600
Short Syndrome
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... OMIM:269880
Trisomy 18P
Short stature, Facial palsy, Bilateral cryptorchidism, Attention deficit hyperactivity disorder, ... ORPHA:1715
Glycogen Storage Disease Iv
Failure to thrive, Polyhydramnios, Edema, Hydrops fetalis, Hepatosplenomegaly, Ascites OMIM:232500
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Cry... OMIM:615381
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Enlarged ovaries, Short stature, Impaired glucose tolerance,... ORPHA:769
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Short stature, Impulsivity, Precocious puberty, Cryptorchidism, Flexion contr... ORPHA:398069
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hemangiomatosis, Polyhydramnios, Visceral angiomatosis, Hydrops fetalis, Ascites ORPHA:2123
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Lipodystrophy, Centrally nucleated skeletal muscle fibers, Splenomegaly, Insulin re... OMIM:613327
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Obesity, A... ORPHA:398079
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Calf muscle pseudohypertrophy, Insulin resistance, Insulin-resi... ORPHA:79086
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the lymphatic system, Hydrop... ORPHA:69735
Silver-Russell Syndrome
Decreased muscle mass, Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth re... ORPHA:813
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Pericardial effusion, Ascites, Pleural effusion, Failure to thrive, Ol... OMIM:614702
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia, Short stature ORPHA:66518
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Prader-Willi Syndrome
Decreased muscle mass, Short stature, Decreased response to growth hormone stimulation test, Hypo... OMIM:176270
Free Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hydrops fetalis, Ascites ORPHA:834
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... ORPHA:79237
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Post... ORPHA:453533
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly OMIM:273680
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... OMIM:248370
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Cryptorchidism, Insulin resistance, Flexion contrac... OMIM:214150
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac... OMIM:615238
Secondary Short Bowel Syndrome
Cholestasis, Central hypothyroidism, Growth delay, Weight loss, Primary hypothyroidism, Failure t... ORPHA:95427
Prader-Willi Syndrome
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Precocio... ORPHA:739
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Failure to thrive, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites OMIM:608776
Secondary Intestinal Lymphangiectasia
Intestinal lymphedema, B-cell lymphoma, Edema, Lymphedema, Chylous ascites, Lymphoma, Anasarca, P... ORPHA:90363
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Death in infancy, Failure to thrive, Edema, Neonatal death, Ascites, Oligohydramnios OMIM:608104
Wolman Disease
Splenomegaly, Hepatomegaly, Ascites, Cachexia ORPHA:75233
Silver-Russell Syndrome Due To 11P15 Microduplication
Short stature, Small for gestational age, Postnatal growth retardation, Umbilical hernia, Severe ... ORPHA:231144
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:300942
Luscan-Lumish Syndrome
Short stature, Aggressive behavior, Obesity, Polycystic ovaries, Polyphagia OMIM:616831
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Gracile Bone Dysplasia
Death in infancy, Failure to thrive, Asplenia, Hypoplastic spleen, Ascites OMIM:602361
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites OMIM:174050
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Basal cell carcinoma, Pleural effusion, Ascites ORPHA:314473
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Short Syndrome
Inguinal hernia, Diabetes mellitus, Severe short stature, Abnormal dental enamel morphology, Lipo... ORPHA:3163
Bangstad Syndrome
Severe short stature, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gon... OMIM:210740
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Small for gestational age, Decreased response to growth hormone stimulatio... ORPHA:96182
Focal Segmental Glomerulosclerosis 1
Pleural effusion, Ascites, Edema OMIM:603278
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Primary Intestinal Lymphangiectasia
Edema, Disseminated cutaneous warts, Pericardial effusion, Abnormal lymphatic vessel morphology, ... ORPHA:90362
Werner Syndrome
Skeletal muscle atrophy, Short stature, Lipodystrophy, Lipoatrophy, Insulin resistance, Ovarian n... ORPHA:902
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating ... OMIM:608747
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to th... ORPHA:79319
Niemann-Pick Disease, Type A
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Failure to thrive OMIM:257200
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Failure to thrive, Nonimmune hydrops fetalis, Pleural effusion, Ascites OMIM:617049
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Primary gonadal insufficiency, H... ORPHA:436182
Seckel Syndrome 10
Acute pancreatitis, Severe short stature, Diabetes mellitus, Impaired glucose tolerance, Elevated... OMIM:617253
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Dec... ORPHA:508
Angelman Syndrome
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... ORPHA:72
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Proportionate short stature, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, H... ORPHA:71212
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... OMIM:260370
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Abnormal dental enamel morphology, Obesity, Delayed puberty, Polyphagia ORPHA:251004
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites OMIM:301045
Aggressive Systemic Mastocytosis
Hematological neoplasm, Hypersplenism, Lymphadenopathy, Hepatosplenomegaly, Weight loss, Leukemia... ORPHA:98850
Intellectual Developmental Disorder, Autosomal Dominant 1
Short stature, Aggressive behavior, Postnatal growth retardation, Self-injurious behavior, Macrog... OMIM:156200
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Short stature, Decreased response to growth hormone stimu... OMIM:203800
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Neuraminidase Deficiency
Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Ascites OMIM:256550
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Pericardial effusion, Splenomegaly, Angioedema, Lymphoma, Lymphadenopathy, Pleural ... ORPHA:36412
Pseudohypoparathyroidism Type 1C
Calcinosis, Short stature, Decreased response to growth hormone stimulation test, Reduced circula... ORPHA:79444
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Hepatomegaly, Ascites OMIM:619463
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Pleural effusion, Fibrosarcoma, Ascites ORPHA:314478
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Short stature, Cryptorchidism, Insulin resistance, Truncal ob... OMIM:616541
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Failure to thrive, Nonimmune hydrops fetalis, Polyhydramnios, Hepatosplenomegaly, A... ORPHA:367
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Pedal edema, Lymphadenopathy, Ascites ORPHA:381
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Weight loss, Neoplasm of the nervous system, Ascites, Neur... ORPHA:100086
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Whipple Disease
Hepatomegaly, Myositis, Anorexia, Cachexia, Splenomegaly, Insulin resistance, Polydipsia, Hypothy... ORPHA:3452
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia, Decreased testicular size OMIM:612469
Combined Oxidative Phosphorylation Deficiency 5
Death in infancy, Ascites, Edema OMIM:611719
Poems Syndrome
Lymphoproliferative disorder, Edema, Pericardial effusion, Lymphadenopathy, Weight loss, Hemangio... ORPHA:2905
Mulibrey Nanism
Hepatomegaly, Nephroblastoma, Ascites, Hydrops fetalis OMIM:253250
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycys... ORPHA:91
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Neona... OMIM:620014
Carney Triad
Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyosarcoma, Lymphadenopathy, Pheo... ORPHA:139411
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Death in infancy, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Splenomegal... OMIM:235255
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Short stature, Insulin resistance, Growth delay, Intrauterin... OMIM:619322
Pseudohypoparathyroidism Type 1A
Calcinosis, Short stature, Decreased response to growth hormone stimulation test, Reduced circula... ORPHA:79443
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Failure to thrive OMIM:602579
Hemochromatosis, Type 1
Splenomegaly, Hepatomegaly, Pleural effusion, Ascites OMIM:235200
Alg8-Cdg
Small for gestational age, Edema, Hydrops fetalis, Ascites, Failure to thrive, Oligohydramnios ORPHA:79325
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Hepatosplenomegaly, Decrea... OMIM:608013
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Restlessness, Aggressive behavior, Postnatal growth retardation, Crypt... ORPHA:251028
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Neoplasm of the lung, Neoplasm ... ORPHA:100085
Familial Atrial Myxoma
Cardiac myxoma, Ascites, Pedal edema ORPHA:615
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Pelvic mass, Spinal cord tumor, Ovarian neoplasm, Weigh... ORPHA:370348
Budd-Chiari Syndrome
Splenomegaly, Hepatomegaly, Ascites, Weight loss ORPHA:131
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Short stature, Decreased response to growth hormone stimulation test, Central diabetes insipidus,... ORPHA:293987
Rett Syndrome
Skeletal muscle atrophy, Agitation, Cholecystitis, Increased serum leptin, Failure to thrive, Abn... ORPHA:778
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Short stature, Inguinal hernia, Congenital diaphragmatic hernia, Ag... ORPHA:96121
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:618160
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Short stature, Insulin resistance, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Klippel-Trénaunay Syndrome
Hepatomegaly, Edema, Hydrops fetalis, Hemangioma, Ascites ORPHA:90308
Cholestasis, Progressive Familial Intrahepatic, 3
Splenomegaly, Hepatomegaly, Ascites OMIM:602347
Polyendocrine-Polyneuropathy Syndrome
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Hypoglycemia, Postna... OMIM:616113
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Polyhydramnios, Hydrops fetalis, Pleural effusion, Ascites OMIM:616897
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ascites, Small for gestational age, Nonimmune hydrops fetalis, Oligohydramnios OMIM:617021
Gitelman Syndrome
Neoplasm of the pancreas, Salt craving, Maternal diabetes, Insulin resistance, Rhabdomyolysis, Gl... ORPHA:358
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Edema, Intestinal lymphangiectasia, Ascites, Generalized edema OMIM:226300
Adnp Syndrome
Inguinal hernia, Short stature, Aggressive behavior, Oral-pharyngeal dysphagia, Cryptorchidism, T... ORPHA:404448
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Short stature, Decreased response to growth hormone stimulation test, Facial palsy... OMIM:615873
Tempi Syndrome
Transudative pleural effusion, Hemangioma, Ascites ORPHA:284227
Monosomy 13Q34
Growth delay, Insulin resistance, Hepatic steatosis, Obesity ORPHA:96168
Eosinophilic Gastroenteritis
Ascites, Edema, Weight loss ORPHA:2070
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Atypical Werner Syndrome
Skeletal muscle atrophy, Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Short statur... ORPHA:79474
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Growth del... ORPHA:125
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Increased adipose tissue ORPHA:199276
Lymphangioleiomyomatosis
Renal neoplasm, Lymphedema, Retinal hamartoma, Renal angiomyolipoma, Abnormality of the lymphatic... ORPHA:538
Chondrodysplasia, Blomstrand Type
Stillbirth, Fetal ascites, Hydrops fetalis, Polyhydramnios OMIM:215045
Weaver Syndrome
Inguinal hernia, Diastasis recti, Cryptorchidism, Hydrocele testis, Camptodactyly, Umbilical hern... OMIM:277590
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... OMIM:209900
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Neoplasm of the thymus, Abnormal abdomen morphology, Pitu... ORPHA:97261
Pediatric Systemic Lupus Erythematosus
Edema, Pericardial effusion, Lymphadenopathy, Pleural effusion, Ascites ORPHA:93552
Glycogen Storage Disease Ixc
Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct p... OMIM:613027
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Hypersplenism, Pedal edema, Ascites ORPHA:77259
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Failure to thrive, Edema, Pericardial effusion, Hepatosplenomegaly, Weight loss, As... OMIM:619487
Classic Galactosemia
Hepatomegaly, Ascites ORPHA:79239
Mucopolysaccharidosis Type 7
Splenomegaly, Ascites, Hydrops fetalis, Lymphedema ORPHA:584
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Cavernous hemangioma, Neonatal death, Hemangioma, Ascites OMIM:620244
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Ascites ORPHA:64743
Farber Disease
Failure to thrive, Hydrops fetalis, Lymphadenopathy, Hepatosplenomegaly, Joint swelling, Ascites ORPHA:333
1P36 Deletion Syndrome
Hepatic steatosis, Short stature, Camptodactyly of finger, Cryptorchidism, Abnormality of the spl... ORPHA:1606
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Absence of lymph node germinal center, Hepatosplenome... ORPHA:79124
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Breast aplasia, Short stature ORPHA:90153
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Oral-pharyngeal d... ORPHA:273
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectas... ORPHA:1655
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Congenital Sialidosis Type 2
Hepatomegaly, Ascites, Edema, Hepatosplenomegaly ORPHA:93400
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Hepatomegaly, Failure to thrive, Ascites OMIM:251880
Telangiectasia, Hereditary Hemorrhagic, Type 4
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... OMIM:610655
Fraser Syndrome 3
Stillbirth, Ascites, Nonimmune hydrops fetalis, Oligohydramnios OMIM:617667
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Peripheral edema, Pleural effusion, Ascites, Generalized edema ORPHA:64739
Hennekam Syndrome
Benign neoplasm of the central nervous system, Lymphedema, Pericardial effusion, Splenomegaly, Pu... ORPHA:2136
Thalidomide Embryopathy
Insulin resistance, Short stature ORPHA:3312
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Abnormal heart morphology,... ORPHA:137667
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Polyhydramnios, Edema, Hamartoma of tongue, Splenomegaly, Neonatal death, Ascites OMIM:269860
Necrotizing Enterocolitis
Ascites, Small for gestational age, Edema ORPHA:391673
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... OMIM:175050
Pseudo-Torch Syndrome 2
Hepatomegaly, Pleural effusion, Ascites OMIM:617397
Xfe Progeroid Syndrome
Failure to thrive, Ascites, Cachexia, Death in adolescence OMIM:610965
Perlman Syndrome
Renal hamartoma, Polyhydramnios, Edema, Large for gestational age, Nephroblastomatosis, Nephrobla... OMIM:267000
Wolcott-Rallison Syndrome
Hepatomegaly, Ascites, Dehydration, Decreased body weight ORPHA:1667
Late-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... ORPHA:556037
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Stillbirth, Ascites OMIM:259720
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal growth retardation... OMIM:616263
Diarrhea 10, Protein-Losing Enteropathy Type
Death in infancy, Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites OMIM:618183
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Abnormal abdomen morphology, Pituitary adenoma, Weight lo... ORPHA:97278
Sclerosing Cholangitis, Neonatal
Splenomegaly, Hepatomegaly, Ascites OMIM:617394
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Facial edema, Pedal edema, Anasarca, Pleural effusion, Ascites ORPHA:567546
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Abnormal abdomen morphology... ORPHA:97282
Dengue Fever
Hepatomegaly, Ascites ORPHA:99828
Reynolds Syndrome
Hepatomegaly, Ascites, Xerostomia ORPHA:779
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short stature, B... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short stature, B... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short stature, B... ORPHA:99228
Monosomy X
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short stature, B... ORPHA:99226
Autoimmune Hepatitis
Splenomegaly, Ascites ORPHA:2137
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... ORPHA:335
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Pleural effusion, Ascites OMIM:306400
Intrahepatic Cholestasis Of Pregnancy
Ascites, Small for gestational age ORPHA:69665
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Abnormal abdomen morphology, Pituitary adenoma, Weight lo... ORPHA:97283
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... ORPHA:42775
Caroli Disease
Splenomegaly, Hepatomegaly, Ascites, Weight loss ORPHA:53035
Adams-Oliver Syndrome
Failure to thrive, Ascites ORPHA:974
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Ascites ORPHA:2848
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, Failure to thrive, Ascites, Polyhydramnios OMIM:617156
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Hypersplenism, Dehydration, Hepatosplenomegaly, Weight loss, Ascites ORPHA:275761
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... OMIM:620185
Cardiomyopathy, Familial Hypertrophic, 4
Pericardial effusion, Hepatomegaly, Ascites, Pulmonary edema OMIM:115197
Immunodeficiency 22
Failure to thrive, Ascites OMIM:615758
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Small for gestational age, Cervical lymphadenopathy, Hodgkin lymphoma, Anasarca, Pl... OMIM:619573
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Ascites, Polysplenia OMIM:200995
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Death in infancy, Periorbital edema, Hypoplasia of the thymus, Death in childho... OMIM:613177
Nestor-Guillermo Progeria Syndrome
Short stature, Lipoatrophy, Decreased serum leptin, Flexion contracture, Growth delay, Failure to... OMIM:614008
Fumarase Deficiency
Failure to thrive, Cutaneous leiomyoma, Ascites, Polyhydramnios OMIM:606812
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hydrops fetalis OMIM:614091
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Aggressive behavior, Cryptorchidism, Hypothyroidism, Obesity, Congenital... OMIM:607872
Cirrhotic Cardiomyopathy
Hepatomegaly, Peripheral edema, Ascites, Pulmonary edema ORPHA:57777
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Ascites ORPHA:91348
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Hepatomegaly, Ascites, Truncal obesity OMIM:301072
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites OMIM:620369
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Abnormal abdomen morphology, Pituitary adenoma, Weight lo... ORPHA:97280
Mosaic Variegated Aneuploidy Syndrome
Vaginal neoplasm, Polyhydramnios, Myelodysplasia, Rhabdomyosarcoma, Increased nuchal translucency... ORPHA:1052
Primary Sclerosing Cholangitis
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Weight loss, Adenocarcinoma of the large intestin... ORPHA:171
Tyrosinemia, Type I
Splenomegaly, Hepatomegaly, Failure to thrive, Ascites OMIM:276700
Glycogen Storage Disease Of Heart, Lethal Congenital
Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Pulmonary edema OMIM:261740
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Cirrhosis, Familial
Ascites OMIM:215600
Familial Mediterranean Fever
Splenomegaly, Ascites, Pedal edema, Lymphadenopathy ORPHA:342
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Wilson Disease
Hepatomegaly, Edema, Splenomegaly, Pedal edema, Ascites OMIM:277900
Liver Disease, Severe Congenital
Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepatic steatosi... OMIM:619991
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatomegaly, Failure to thrive, Ascites OMIM:256810
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei... ORPHA:740
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Ascites, Anasarca, Failure to thrive, Slender build, Oligohydramnios OMIM:613658
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... OMIM:187300
Tenorio Syndrome
Macroglossia, Hypoglycemia, Hypoinsulinemia OMIM:616260
Senior-Boichis Syndrome
Ascites, Hepatosplenomegaly ORPHA:84081
Niemann-Pick Disease, Type C2
Hepatomegaly, Death in infancy, Fetal ascites, Polyhydramnios, Splenomegaly, Death in childhood OMIM:607625
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Anasarca, Ascites, Failure to thrive OMIM:203700
Mitchell-Riley Syndrome
Ascites OMIM:615710
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
Autosomal Recessive Polycystic Kidney Disease
Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hepatoblastoma, Ascites, Oligohydramnios ORPHA:731
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... ORPHA:99827
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Ascites ORPHA:646
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... OMIM:600376
Primary Biliary Cholangitis
Ascites ORPHA:186
Cutis Marmorata Telangiectatica Congenita
Ascites, Capillary hemangioma ORPHA:1556
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Ascites ORPHA:464321
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... ORPHA:340
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Tropical Endomyocardial Fibrosis
Hepatomegaly, Cachexia, Splenomegaly, Pedal edema, Peripheral edema, Ascites ORPHA:75565
Atresia Of Urethra
Ascites, Oligohydramnios ORPHA:105
Pmm2-Cdg
Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g... ORPHA:79318
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Failure to thrive, Edema, Polyhydramnios, Splenomegaly, Neonatal death, Ascites, Ge... OMIM:619534
Johanson-Blizzard Syndrome
Hepatomegaly, Failure to thrive, Small for gestational age, Splenomegaly, Anasarca, Death in chil... OMIM:243800
Trichorhinophalangeal Syndrome, Type Ii
Internal carotid artery dissection, Bicuspid aortic valve, Cerebral arteriovenous malformation, P... OMIM:150230
Chronic Graft Versus Host Disease
Pleural effusion, Ascites, Xerostomia, Weight loss ORPHA:99921
Juvenile Polyposis Syndrome
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... ORPHA:2929
Leukocyte Adhesion Deficiency
Short stature, Peritonitis, Growth delay, Hyperinsulinemic hypoglycemia, Intrauterine growth reta... ORPHA:2968
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Ascites ORPHA:51608
Eisenmenger Syndrome
Hepatomegaly, Pedal edema, Peripheral edema, Ascites, Generalized edema ORPHA:97214
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp... ORPHA:99826
Hellp Syndrome
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Breast Cancer
Breast carcinoma OMIM:114480
Superficial Siderosis
Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage ORPHA:247245
Yellow Fever
Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H... ORPHA:99829
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage, Aortic aneurysm ORPHA:805
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Short stature, Arterial... ORPHA:286
Lynch Syndrome
Benign neoplasm of the central nervous system, Death in infancy, Pancreatic adenocarcinoma, Death... ORPHA:144
Cerebral Cavernous Malformations 4
Cerebral cavernous malformation OMIM:619538
Keratosis, Seborrheic
Seborrheic keratosis OMIM:182000
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy... ORPHA:2495
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Venous malformation, Spinal dysraphism OMIM:612918
Hemihyperplasia-Multiple Lipomatosis Syndrome
Multiple lipomas, Nephroblastoma, Abnormality of the lymphatic system ORPHA:276280
Cowden Syndrome
Endometrial carcinoma, Follicular thyroid carcinoma, Cavernous hemangioma, Breast carcinoma, Hama... ORPHA:201
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Visceral angiomatosis, Failure to thrive, Neoplasm ORPHA:60040
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Su... OMIM:615108
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Hemimegalencephaly
Optic atrophy ORPHA:99802
Colorectal Cancer
Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder OMIM:114500
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
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Nevus, Epidermal
OMIM:162900
Macrodactyly
OMIM:155500
Gastric Cancer
OMIM:613659

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

The IMPC Newsletter

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

Subscribe to newsletter