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Gene: Akt1 MGI:87986

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
thymoma viral proto-oncogene 1
Synonyms:
PKB/Akt,  PKB,  Akt,  PKBalpha

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 Akt1 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 predicted to be associated to Akt1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Small for gestational age, Proportionate short s... ORPHA:439167
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Cholester... OMIM:600803
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Small for gestational age, Postnatal growth retardation, Severe postnatal growth r... ORPHA:73272
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Postnatal growth retardation... ORPHA:397590
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Portal hypertension, Sparse ... OMIM:607626
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Morbid Obesity And Spermatogenic Failure
Azoospermia, Obesity, Infertility, Oligozoospermia OMIM:615703
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Mirizzi Syndrome
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab... ORPHA:521219
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... ORPHA:562639
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Polyhydramnios, Large for gestational age, Postnatal growth retardatio... ORPHA:254534
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... OMIM:607361
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Silver-Russell Syndrome Due To 11P15 Microduplication
Decreased fetal movement, Short stature, Small for gestational age, Postnatal growth retardation,... ORPHA:231144
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Pallor ORPHA:79283
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia, ... OMIM:300200
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age, Increased serum serotonin ORPHA:85288
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... ORPHA:280365
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst OMIM:611561
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus OMIM:619480
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestas... OMIM:267010
Leptin Deficiency Or Dysfunction
Polyphagia, Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... ORPHA:2298
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... ORPHA:369873
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Hepatitis, Hypoplasia of the thymus, Nail dystrophy, Sparse hair, Abnormal ductus... ORPHA:436252
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Meckel Syndrome, Type 6
Absent gallbladder, Renal cyst, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, ... OMIM:612284
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Curly hair, Hypoplastic nipples, Hypertrichosis ORPHA:480880
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Peripheral Cone Dystrophy
Pallor OMIM:609021
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst OMIM:603194
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Failure to thrive, Pallor OMIM:613561
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Redundant neck skin, Polyhydramnios, Postnatal growth retardation, Large placenta, Umbilical hern... ORPHA:254528
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Cholelithiasis, Jaundice OMIM:224100
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... OMIM:608594
Optic Atrophy 1
Pallor OMIM:165500
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Meckel Syndrome, Type 4
Bile duct proliferation, Renal cyst OMIM:611134
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Acute Myelomonocytic Leukemia
Pallor, Weight loss ORPHA:517
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Jaundice, Intrahepatic cholestasis, Hepatomegaly OMIM:605479
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:269700
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Neu-Laxova Syndrome 1
Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Bifid uterus, Cr... OMIM:256520
Restrictive Dermopathy
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... ORPHA:1662
Congenital Heart Block
Premature birth, Hydrops fetalis, Vaginal birth after Caesarian, Pallor, Intrauterine growth reta... ORPHA:60041
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hepatosplenomegaly, L... ORPHA:85450
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... OMIM:618329
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Increased body weight ORPHA:276608
Lead Poisoning
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Imbalance... ORPHA:330015
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Kagami-Ogata Syndrome
Premature birth, Polyhydramnios, Large for gestational age, Postnatal growth retardation, Large p... ORPHA:254519
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Alpha-Thalassemia
Hypersplenism, Cholelithiasis, Jaundice, Splenomegaly ORPHA:846
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Pancreatic cysts, Cong... ORPHA:731
Mosaic Trisomy 16
Premature birth, Hypospadias, Small for gestational age, Large placenta, Single umbilical artery,... ORPHA:1708
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis ORPHA:79278
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Hemoglobin D Disease
Pallor ORPHA:90039
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Renal cyst, Bile duct ... OMIM:208500
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Pallor, Large for gestational age ORPHA:324575
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Breath-Holding Spells
Pallor OMIM:607578
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Hardikar Syndrome
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... OMIM:301068
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Trichohepatoenteric Syndrome 1
Short stature, Hypospadias, Polyhydramnios, Small for gestational age, Large placenta, Abnormalit... OMIM:222470
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:613470
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Renal cyst, Cholestasis, Bile duct pro... OMIM:261515
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor ORPHA:49827
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Large for gestational age ORPHA:276556
Retinitis Pigmentosa 51
Pallor, Obesity OMIM:613464
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Large for gestational age ORPHA:276575
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Short stature, Pallor OMIM:615631
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Large for gestational age ORPHA:276580
Hb Bart'S Hydrops Fetalis
Pallor, Hydrops fetalis, Polyhydramnios, Oligohydramnios ORPHA:163596
Rett Syndrome
Agitation, Cholecystitis, Increased serum leptin, Failure to thrive, Abnormal repetitive manneris... ORPHA:778
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Short stature, Pallor OMIM:611590
Myopathic Ehlers-Danlos Syndrome
Failure to thrive, Pallor ORPHA:536516
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Azoospermia, Hypogonadism, Pallor OMIM:615234
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... ORPHA:189427
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Growth delay, Failure to thrive, Pallor, Delayed puberty OMIM:600462
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency ORPHA:309108
Prolactinoma
Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnorma... ORPHA:2965
Leishmaniasis
Pallor, Skin ulcer, Weight loss ORPHA:507
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Myotonic Dystrophy 2
Hypogonadism, Elevated circulating follicle stimulating hormone level, Oligozoospermia OMIM:602668
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis OMIM:235700
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Sparse eyelashes, Cholangitis, Sparse eyebrow, Splen... OMIM:613610
Beta-Thalassemia
Hypogonadotropic hypogonadism, Pallor, Skin ulcer ORPHA:848
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:203700
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Obesity, Congenital hypothyroidism OMIM:614613
Greenberg Dysplasia
Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Inc... OMIM:215140
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Short stature, Pallor, Decreased body weight OMIM:609053
Non-Functioning Paraganglioma
Pallor, Weight loss ORPHA:94080
Non-Functioning Pituitary Adenoma
Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo... ORPHA:91349
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous ... ORPHA:786
Primary Myelofibrosis
Cachexia, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
Atypical Werner Syndrome
Hepatic steatosis, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Lipoatrophy, Abnor... ORPHA:79474
Spherocytosis, Type 1
Splenomegaly, Cholelithiasis, Jaundice OMIM:182900
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Recurrent hand flapping, ... OMIM:617600
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Small for gestational age, Oligozoospermia, Clitoral hypoplasia, Failure to thrive, Breast hypopl... OMIM:614813
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Hypospadias, Po... OMIM:275210
Dravet Syndrome
Pallor ORPHA:33069
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Weight loss ORPHA:3226
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hypertriglyceridemia, Hyp... ORPHA:247585
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Parakeratosis, Biliary hyperplasia, Cryptorchidism, Coarse hair, Cholelithiasis, Pa... ORPHA:83617
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Breech presentation, Large placenta, Ambigu... OMIM:249000
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Self-inju... ORPHA:449291
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis OMIM:266200
Sepsis In Premature Infants
Small for gestational age, Premature birth, Pallor, Decreased body weight, Caesarian section, Pet... ORPHA:90051
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Bile duct proliferation, Decreas... OMIM:613658
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor, Increased body weight, Large for gestational age ORPHA:263455
Idiopathic Pulmonary Hemosiderosis
Failure to thrive, Pallor ORPHA:99931
Bloom Syndrome
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... ORPHA:125
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Pallor, Primary amenorrhea OMIM:617675
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... OMIM:608747
Carney Complex
Increased body weight, Leydig cell neoplasia, Abnormal sperm motility, Ovarian serous cystadenoma... ORPHA:1359
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Short stature, Premature birth, Polyhydramnios, External genital hypoplasia,... ORPHA:96334
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Biliary hyperplasia, Intrahepatic cholesta... OMIM:619991
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Azoospermia, Hypogonadism, Pallor ORPHA:300298
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Frontal balding OMIM:160900
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the m... ORPHA:91347
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... OMIM:615710
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis ORPHA:79095
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... OMIM:609152
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... OMIM:208085
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Foot joint contracture, Facial palsy, Hyperechogenic pancreas, Achilles tendon cont... ORPHA:456312
Beckwith-Wiedemann Syndrome
Premature birth, Redundant skin, Polyhydramnios, Large for gestational age, Large placenta, Crypt... ORPHA:116
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Sheehan Syndrome
Dyspareunia, Decreased female libido, Obesity, Impotence, Oligomenorrhea, Pallor, Dry skin, Ameno... ORPHA:91355
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... ORPHA:231222
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Renal cyst, Cholesta... ORPHA:79303
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Dominant Beta-Thalassemia
Failure to thrive in infancy, Skin ulcer, Growth delay, Pallor, Delayed puberty ORPHA:231226
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Irida Syndrome
Pallor ORPHA:209981
Hereditary Folate Malabsorption
Failure to thrive, Pallor ORPHA:90045
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice OMIM:232800
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Adenohypophysitis
Decreased female libido, Impotence, Pallor, Decreased male libido, Amenorrhea ORPHA:95512
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Cold Agglutinin Disease
Pallor ORPHA:56425
Imerslund-Gräsbeck Syndrome
Failure to thrive, Pallor, Weight loss ORPHA:35858
Sialuria
Hepatosplenomegaly, Cholelithiasis, Elevated hepatic transaminase, Hepatomegaly ORPHA:3166
Esophageal Atresia
Abnormal external genitalia, Small for gestational age, Polyhydramnios, Failure to thrive in infa... ORPHA:1199
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor, Weight loss ORPHA:276621
Panhypophysitis
Decreased female libido, Impotence, Pallor, Decreased male libido, Amenorrhea ORPHA:95513
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Anemi... OMIM:227650
Fumarase Deficiency
Failure to thrive, Bilateral fetal pyelectasis, Pallor, Polyhydramnios OMIM:606812
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin OMIM:614008
Myelofibrosis
Pallor, Purpura OMIM:254450
American Trypanosomiasis
Pallor ORPHA:3386
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor ORPHA:98870
Beta-Thalassemia Major
Failure to thrive in infancy, Skin ulcer, Growth delay, Pallor, Delayed puberty ORPHA:231214
Pituitary Apoplexy
Impotence, Hypergonadotropic hypogonadism, Oligomenorrhea, Pallor ORPHA:95613
Beta-Ketothiolase Deficiency
Pallor, Weight loss ORPHA:134
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Anterior pituitary hypoplasia, Elevated circulating aspartate aminotransferase conc... OMIM:619534
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Pallor ORPHA:331206
Diamond-Blackfan Anemia 1
Premature birth, Short stature, Spina bifida occulta, Pallor, Intrauterine growth retardation, Fa... OMIM:105650
Fanconi Anemia, Complementation Group C
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Anemic pallor, Cryptorc... OMIM:227645
Fanconi Anemia, Complementation Group E
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Anemic pallor, Cryptorc... OMIM:600901
Retinitis Pigmentosa 75
Pallor OMIM:617023
Hereditary Spherocytosis
Growth delay, Pallor, Skin ulcer ORPHA:822
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch... ORPHA:101330
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Erythema, Hydrops fetalis, Pallor, Failure to thrive OMIM:557000
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy... ORPHA:171
Tay-Sachs Disease
Pallor OMIM:272800
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Weight loss ORPHA:20
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure, Abnormality of the hairline OMIM:614886
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Degcags Syndrome
Premature birth, Hypospadias, Polyhydramnios, Echogenic fetal bowel, Small for gestational age, B... OMIM:619488
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Hereditary Pheochromocytoma-Paraganglioma
Pallor, Weight loss ORPHA:29072
Glycogen Storage Disease Xii
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... OMIM:611881
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Weight loss ORPHA:98849
Senior-Loken Syndrome 8
Pallor OMIM:616307
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Chronic active hepatitis, Asplenia, Nail dystrophy, Cholelithiasis,... OMIM:240300
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97278
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou... ORPHA:740
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly OMIM:619273
Sickle Cell Disease
Hepatomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis OMIM:603903
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Letterer-Siwe Disease
Pallor OMIM:246400
Hereditary Elliptocytosis
Splenomegaly, Cholelithiasis, Jaundice, Prolonged neonatal jaundice ORPHA:288
Diamond-Blackfan Anemia
Short stature, Nonimmune hydrops fetalis, Hypospadias, Small for gestational age, Growth delay, P... ORPHA:124
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Trichohepatoneurodevelopmental Syndrome
Curly hair, Hepatomegaly, Woolly hair, Synophrys, Splenomegaly, Coarse hair, Long eyelashes, Hypo... OMIM:618268
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Alternating Hemiplegia Of Childhood
Failure to thrive, Pallor ORPHA:2131
Histiocytoid Cardiomyopathy
Failure to thrive, Pallor, Polycystic ovaries ORPHA:137675
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Biliary t... ORPHA:100086
Incontinentia Pigmenti
Erythema, Short stature, Pallor OMIM:308300
Elliptocytosis 1
Pallor OMIM:611804
Fanconi Anemia, Complementation Group D2
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Anemic pallor, Cryptorc... OMIM:227646
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Alopecia totalis OMIM:618775
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97261
Triosephosphate Isomerase Deficiency
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis OMIM:615512
Aregenerative Anemia
Pallor ORPHA:101096
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Patchy alopecia, Cholelithiasis, Decreased testicular size, Thick eyebrow OMIM:300534
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice ORPHA:3202
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... ORPHA:99776
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Distal Duplication 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Metachromatic Leukodystrophy
Hemobilia, Abnormal gallbladder morphology, Neoplasm of the gallbladder ORPHA:512
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Idiopathic Hypereosinophilic Syndrome
Failure to thrive, Pallor ORPHA:3260
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Hepatomegaly, Splenomegaly, Jaundice, Loss of eyelashes, Cholelithiasis... OMIM:263700
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, Infertility, Micropenis ORPHA:3310
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor ORPHA:329971
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Synophrys, Aplasia/Hypoplasia of the gallbladder, Frontal balding ORPHA:96092
Hereditary Hemorrhagic Telangiectasia
Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure ORPHA:774
Multiple Endocrine Neoplasia Type 2
Cervical neoplasm, Pallor ORPHA:653
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Von Hippel-Lindau Disease
Papillary cystadenoma of the epididymis, Pallor, Epididymal cyst ORPHA:892
Cerebrotendinous Xanthomatosis
Cholelithiasis OMIM:213700
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Pallor ORPHA:667
Neurofibroma
Enlargement of parotid gland, Abnormal biliary tract morphology ORPHA:252183
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse eyebrow, Cholelithiasis, Sparse scalp hair ORPHA:464738
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Synophrys, Hepatosplenomegaly, Cholecystitis, Cholelithiasis OMIM:301066
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Varicocele, Goiter OMIM:615109
Proteus Syndrome
Splenomegaly, Hyperkeratosis OMIM:176920
Bohring-Opitz Syndrome
Cholelithiasis, Synophrys, Annular pancreas, Hypertrichosis ORPHA:97297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Trisomy 8P
Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Low posterior hairline ORPHA:264450
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh... ORPHA:77293
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Pancre... ORPHA:2255
Alström Syndrome
Precocious puberty in females, Hypergonadotropic hypogonadism, Decreased response to growth hormo... ORPHA:64
Goodpasture Syndrome
Pallor, Weight loss OMIM:233450
Cerebrotendinous Xanthomatosis
Cholelithiasis, Prolonged neonatal jaundice ORPHA:909
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Cholelithiasis ORPHA:2072
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Multiple renal cysts,... ORPHA:567
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Alopecia, Decreased response to growth hormone stimulation test, E... ORPHA:273
Sarcoidosis
Hepatomegaly, Facial palsy, Portal hypertension, Abnormal liver parenchyma morphology, Decreased ... ORPHA:797
Digeorge Syndrome
Parathyroid agenesis, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypop... OMIM:188400
Congenital Total Pulmonary Venous Return Anomaly
Low 1-minute APGAR score, Low 5-minute APGAR score, Pallor ORPHA:99125
Williams Syndrome
Cryptorchidism, Multiple renal cysts, Cholelithiasis, Polycystic ovaries ORPHA:904
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Pericardial effusion, A... ORPHA:79318
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Lon... ORPHA:744
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Short stature, Enlarged polycystic ovaries, Abn... ORPHA:201
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma OMIM:167000
Colorectal Cancer
Uterine leiomyosarcoma OMIM:114500
Breast Cancer
OMIM:114480

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 Akt1

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 Akt1.

No publications found that use IMPC mice or data for Akt1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Akt1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Akt1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Akt1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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