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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Small placenta, Intrauterine growth retardation,... ORPHA:439167
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... ORPHA:98798
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... OMIM:620103
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Small placenta, Postnatal growth retardation, Intrauterine growth retardation,... ORPHA:73272
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Silver-Russell Syndrome Due To A Point Mutation
Microphallus, Bifid scrotum, Small placenta, Postnatal growth retardation, Intrauterine growth re... ORPHA:397590
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port... OMIM:617394
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Alopecia, Sparse eyebrow, Orthokeratosis, Hepatic failure, Cholestasis, Portal ... OMIM:607626
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Delayed menarche, Decreased female lib... ORPHA:52901
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligozoospermia, Male infertility OMIM:108420
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, Abnormal d... ORPHA:521219
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Obesity, Oligozoospermia OMIM:615703
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Postnatal growth retardation, Large for gestational age, Large placenta, Polyhy... ORPHA:254534
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Cholestasis, ... ORPHA:562639
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased a... ORPHA:435660
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom... OMIM:607361
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Silver-Russell Syndrome Due To 11P15 Microduplication
Failure to thrive, Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardatio... ORPHA:231144
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Failure to thrive ORPHA:79283
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism... OMIM:300200
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Functioning Gonadotropic Adenoma
Impotence, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation ... ORPHA:91348
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Non-obstructive azoosp... OMIM:618086
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Increased circulating gonadotropin leve... ORPHA:8
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hyperten... OMIM:267010
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu... ORPHA:363400
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus OMIM:619480
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hepatitis, Alopecia of scalp, Nail dystrophy, Hypoplasia of the thymus, Absen... ORPHA:436252
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology ORPHA:438274
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Meckel Syndrome, Type 6
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Renal cyst, Bile duct proliferation, Cystic ... OMIM:612284
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Hypoplastic nipples, Hypertrichosis, Curly hair ORPHA:480880
Fetal Akinesia Deformation Sequence 1
Small placenta, Intrauterine growth retardation, Increased nuchal translucency, Short umbilical c... OMIM:208150
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated circulating hepatic transaminase concentration OMIM:300752
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Hyperbiliverdinemia
Cholestasis, Cholelithiasis, Decreased liver function OMIM:614156
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Spermatogenic Failure 14
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615842
Peripheral Cone Dystrophy
Pallor OMIM:609021
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Meckel Syndrome, Type 2
Renal cyst, Bile duct proliferation OMIM:603194
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Insulin resistance, Lipoatrophy, Increased adipose tissue around the... ORPHA:280365
Young Syndrome
Azoospermia OMIM:279000
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Large placenta, ... ORPHA:254528
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Failure to thrive, Pallor OMIM:613561
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Splenomegaly OMIM:224100
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Meckel Syndrome, Type 4
Renal cyst, Bile duct proliferation OMIM:611134
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Acute Myelomonocytic Leukemia
Weight loss, Pallor ORPHA:517
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614897
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice OMIM:605479
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Abnormal circulating leptin co... ORPHA:2298
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Restrictive Dermopathy
Small placenta, Intrauterine growth retardation, Large placenta, Short umbilical cord, Decreased ... ORPHA:1662
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Breast hy... ORPHA:432
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Intrauterine growth retardation, Polyhydramnios, Short umbilical... OMIM:256520
Congenital Heart Block
Intrauterine growth retardation, Oligohydramnios, Pallor, Vaginal birth after Caesarian, Hydrops ... ORPHA:60041
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Azoospermia, Elevated circulating follicle stimul... OMIM:301077
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Weight loss, Lymphadenopathy, O... ORPHA:85450
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased testicular size, Azoospermia, Eunuchoid habitus, Cryptorchidism, Hypogon... OMIM:308700
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Spermatogenic Failure 13
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615841
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... ORPHA:90797
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Pallor ORPHA:276608
Combined Oxidative Phosphorylation Deficiency 37
Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Bile d... OMIM:618329
Optic Atrophy 1
Pallor OMIM:165500
Congenital Syphilis
Intrauterine growth retardation, Large placenta, Palmoplantar scaling skin, Petechiae, Hydrops fe... ORPHA:499009
Lead Poisoning
Decreased male libido, Imbalanced hemoglobin synthesis, Reduced sperm motility, Abnormality of th... ORPHA:330015
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Kagami-Ogata Syndrome
Postnatal growth retardation, Large for gestational age, Large placenta, Polyhydramnios, Prematur... ORPHA:254519
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, De... OMIM:608594
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Hemoglobin D Disease
Pallor ORPHA:90039
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Cholestasis, Hepatosplenomegaly, Hypersplenism, Portal hyp... ORPHA:731
Mosaic Trisomy 16
Intrauterine growth retardation, Large placenta, Single umbilical artery, Hypospadias, Small for ... ORPHA:1708
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Pallor, Small for gestational age ORPHA:324575
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Decreased liver function ORPHA:79278
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Renal cyst, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic ... OMIM:208500
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Breath-Holding Spells
Pallor OMIM:607578
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... OMIM:275000
Hardikar Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:301068
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice OMIM:613470
Trichohepatoenteric Syndrome 1
Failure to thrive, Intrauterine growth retardation, Large placenta, Abnormalities of placenta or ... OMIM:222470
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor ORPHA:49827
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hypochromia, Poikilocytosis, Anemi... OMIM:615234
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic steatosis, Splenome... OMIM:261515
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... OMIM:278850
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Retinitis Pigmentosa 51
Obesity, Pallor OMIM:613464
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Pallor ORPHA:276556
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin... OMIM:269700
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Pallor ORPHA:276575
Anemia, Congenital Dyserythropoietic, Type Ib
Short stature, Growth delay, Pallor OMIM:615631
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Pallor ORPHA:276580
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Failure to thrive, Abnormal labia majora morphology, Congenital adrenal hyp... ORPHA:90791
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor, Failure to thrive OMIM:611590
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Oligohydramnios, Pallor, Hydrops fetalis ORPHA:163596
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Myopathic Ehlers-Danlos Syndrome
Pallor, Failure to thrive ORPHA:536516
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Failure to thrive, Pallor, Growth delay OMIM:600462
Leishmaniasis
Weight loss, Pallor, Skin ulcer ORPHA:507
Prolactinoma
Irregular menstruation, Male hypogonadism, Hypogonadism, Abnormality of the menstrual cycle, Pall... ORPHA:2965
Beta-Thalassemia
Hypogonadotropic hypogonadism, Pallor, Skin ulcer ORPHA:848
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta... ORPHA:53035
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Cranioectodermal Dysplasia 2
Sparse eyebrow, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary... OMIM:613610
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Primary Myelofibrosis
Pallor, Petechiae, Ecchymosis, Cachexia, Purpura ORPHA:824
Greenberg Dysplasia
Rhizomelia, Disproportionate short-limb short stature, Large placenta, Increased nuchal transluce... OMIM:215140
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Diabetes mellitus, Hyperactivity, Obesity OMIM:614613
Non-Functioning Pituitary Adenoma
Irregular menstruation, Male hypogonadism, Hypogonadism, Abnormality of the menstrual cycle, Pall... ORPHA:91349
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis OMIM:235700
Non-Functioning Paraganglioma
Weight loss, Pallor ORPHA:94080
Fanconi Anemia, Complementation Group I
Short stature, Intrauterine growth retardation, Pallor, Decreased body weight OMIM:609053
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Female pseudohermaphroditism, Adrenal hyperplasia, Ambiguous genitalia, Oligo... ORPHA:786
Myotonic Dystrophy 2
Hypogonadism, Elevated circulating follicle stimulating hormone level, Oligozoospermia OMIM:602668
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Splenomegaly OMIM:182900
Dravet Syndrome
Pallor ORPHA:33069
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, ... OMIM:617600
Restrictive Dermopathy 1
Premature rupture of membranes, Spontaneous chorioamniotic separation, Intrauterine growth retard... OMIM:275210
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Pallor ORPHA:3226
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Failure to thrive, Breast hypoplasia, Oligozoospermia, Small for gestational age, Clitoral hypopl... OMIM:614813
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Coarse hair, Pancreatic hypoplasia, Cryptorchidism, Parakeratosis, Biliary hyperp... ORPHA:83617
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis OMIM:266200
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Intrauterine growth retardation, Pallor, Cryptorchidism, Weight loss, Short stature OMIM:301310
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Cholestasis, P... OMIM:613658
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decreased body mass in... ORPHA:247585
Sepsis In Premature Infants
Pallor, Petechiae, Decreased body weight, Caesarian section, Purpura, Small for gestational age, ... ORPHA:90051
Meckel Syndrome, Type 1
Occipital encephalocele, Abnormality of the uterus, Ambiguous genitalia, female, Intrauterine gro... OMIM:249000
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Aggressive behavior, ... ORPHA:449291
Idiopathic Pulmonary Hemosiderosis
Pallor, Failure to thrive ORPHA:99931
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age, Pallor ORPHA:263455
Rett Syndrome
Failure to thrive, Increased serum leptin, Bruxism, Cholecystitis, Stereotypical hand wringing, M... ORPHA:778
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Elevated... OMIM:619525
Gapo Syndrome
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea ORPHA:2067
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Pallor, Primary amenorrhea OMIM:617675
Carney Complex
Euthyroid multinodular goiter, Increased circulating prolactin concentration, Ovarian cyst, Incre... ORPHA:1359
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... OMIM:601346
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Hepatic failure, Dry hair, Portal inflammation, Pancreatic hypoplasia, ... OMIM:619991
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Postnatal growth retardation, Intrauterine growth retardation, Large placenta,... ORPHA:96334
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... ORPHA:400
Bloom Syndrome
Azoospermia, Decreased proportion of CD4-positive T cells, Abnormal proportion of CD8-positive T ... ORPHA:125
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Azoospermia, Growth delay, Pallor ORPHA:300298
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Frontal balding OMIM:160900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal male external genitalia morphology, Abnormal ovarian morphology, Elevated circulating lu... ORPHA:95699
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... OMIM:608747
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Biliary atresia, Acholi... OMIM:615710
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Tsh-Secreting Pituitary Adenoma
Irregular menstruation, Male hypogonadism, Hypogonadism, Abnormality of the menstrual cycle, Infe... ORPHA:91347
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Sheehan Syndrome
Dry skin, Obesity, Pallor, Decreased female libido, Amenorrhea, Oligomenorrhea, Dyspareunia, Impo... ORPHA:91355
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Exocrine pancreatic ins... ORPHA:456312
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... ORPHA:79303
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:208085
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Umbilical hernia, Obesity, Large placenta, Large for gestational age, C... ORPHA:116
Dominant Beta-Thalassemia
Skin ulcer, Failure to thrive in infancy, Pallor, Delayed puberty, Growth delay ORPHA:231226
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Abnormality of the liver, Splenomeg... ORPHA:231222
Hyperthyroidism, Nonautoimmune
Small for gestational age, Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased ... OMIM:609152
Atypical Werner Syndrome
Chondrocalcinosis, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... ORPHA:79474
Adenohypophysitis
Decreased male libido, Decreased female libido, Pallor, Amenorrhea, Impotence ORPHA:95512
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Irida Syndrome
Pallor ORPHA:209981
Hereditary Folate Malabsorption
Pallor, Failure to thrive ORPHA:90045
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Cold Agglutinin Disease
Pallor ORPHA:56425
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Imerslund-Gräsbeck Syndrome
Weight loss, Pallor, Failure to thrive ORPHA:35858
Panhypophysitis
Decreased male libido, Decreased female libido, Pallor, Amenorrhea, Impotence ORPHA:95513
Sialuria
Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Elevated circulating hepatic transaminase conce... ORPHA:3166
Fumarase Deficiency
Bilateral fetal pyelectasis, Polyhydramnios, Failure to thrive, Pallor OMIM:606812
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Anemic pallor, Short stature, Small for gestational age, Hyperg... OMIM:227650
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Esophageal Atresia
Failure to thrive in infancy, Absence of stomach bubble on fetal sonography, Pallor, Polyhydramni... ORPHA:1199
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis OMIM:232800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Pallor ORPHA:276621
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor ORPHA:98870
American Trypanosomiasis
Pallor ORPHA:3386
Beta-Ketothiolase Deficiency
Weight loss, Pallor ORPHA:134
Beta-Thalassemia Major
Skin ulcer, Failure to thrive in infancy, Pallor, Delayed puberty, Growth delay ORPHA:231214
Pituitary Apoplexy
Impotence, Oligomenorrhea, Pallor, Hypergonadotropic hypogonadism ORPHA:95613
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Cryptorchidism, Anemic pallor, Short stature, Small for gestatio... OMIM:227645
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Elevated circulating aspartate aminotransferase... OMIM:619534
Fanconi Anemia, Complementation Group E
Cryptorchidism, Anemic pallor, Short stature, Small for gestational age, Hypergonadotropic hypogo... OMIM:600901
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor, Failure to thrive ORPHA:331206
Diamond-Blackfan Anemia 1
Failure to thrive, Intrauterine growth retardation, Pallor, Short stature, Spina bifida occulta, ... OMIM:105650
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati... ORPHA:171
Retinitis Pigmentosa 75
Pallor OMIM:617023
Myelofibrosis
Purpura, Pallor OMIM:254450
Hereditary Spherocytosis
Growth delay, Skin ulcer, Pallor ORPHA:822
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Tay-Sachs Disease
Pallor OMIM:272800
Pearson Marrow-Pancreas Syndrome
Erythema, Failure to thrive, Pallor, Hydrops fetalis, Small for gestational age OMIM:557000
Degcags Syndrome
Failure to thrive, Intrauterine growth retardation, Pallor, Cryptorchidism, Chordee, Ambiguous ge... OMIM:619488
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Pallor ORPHA:20
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:424
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the hairline, Elevated circulating hepatic transaminase concentration, Cholelithia... OMIM:614886
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Pallor ORPHA:29072
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Alpha-Thalassemia
Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Jaundice ORPHA:846
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hy... ORPHA:77259
Senior-Loken Syndrome 8
Pallor OMIM:616307
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pallor, Small for gestational age, Failure to thrive OMIM:277400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss, Pallor ORPHA:98849
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia universalis, Alopecia, Cholelithiasis, Nail dystrophy, Chronic active hepatitis, Hypopar... OMIM:240300
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice OMIM:603903
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Waldenström Macroglobulinemia
Purpura, Pallor ORPHA:33226
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Increased circulating prolactin conc... ORPHA:97278
Glycogen Storage Disease Xii
Cholelithiasis, Cholecystitis, Splenomegaly, Low posterior hairline, Elevated circulating alanine... OMIM:611881
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis OMIM:620646
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis OMIM:619273
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... OMIM:614098
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Thoracic hypertrichosis, Coarse hair, Decreased liver function, Exocrine pancreat... OMIM:618268
Diamond-Blackfan Anemia
Growth delay, Pallor, Nonimmune hydrops fetalis, Short stature, Hypospadias, Small for gestationa... ORPHA:124
Letterer-Siwe Disease
Pallor OMIM:246400
Alternating Hemiplegia Of Childhood
Pallor, Failure to thrive ORPHA:2131
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:99819
Histiocytoid Cardiomyopathy
Pallor, Failure to thrive, Polycystic ovaries ORPHA:137675
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Anemic pallor, Micropenis, Short stature, Small for gestational age, Hypergonadot... OMIM:227646
Incontinentia Pigmenti
Short stature, Erythema, Pallor OMIM:308300
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin OMIM:614008
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Cholecystitis, Intermittent jaundice, Biliary tract obstruction, Extrahep... ORPHA:100086
Diphallia
Penoscrotal transposition, Bifid scrotum, Ectopic scrotum, Cryptorchidism, Bifid penis, Rectoperi... ORPHA:227
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Cholelithiasis OMIM:618775
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Decreased testicular size, Thick eyebrow, Cryptorchidism, Patchy alopecia OMIM:300534
Elliptocytosis 1
Pallor OMIM:611804
Triosephosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaundice OMIM:615512
Aregenerative Anemia
Pallor ORPHA:101096
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Increased circulating prolactin conc... ORPHA:97261
Neuroblastoma
Anemic pallor, Weight loss ORPHA:635
Hereditary Elliptocytosis
Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly ORPHA:288
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice ORPHA:3202
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96097
Metachromatic Leukodystrophy
Hemobilia, Neoplasm of the gallbladder, Abnormal gallbladder morphology ORPHA:512
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Mosaic Trisomy 9
Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular... ORPHA:99776
Idiopathic Hypereosinophilic Syndrome
Pallor, Failure to thrive ORPHA:3260
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, Micropenis, Infertility ORPHA:3310
Porphyria, Congenital Erythropoietic
Alopecia, Cholelithiasis, Hypertrichosis, Splenomegaly, Loss of eyelashes, Absent eyebrow, Hepato... OMIM:263700
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Pigment gallstones, Abnormality of the spleen, Jaundice ORPHA:232
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Frontal balding, Cryptorchidism, Synophrys ORPHA:96092
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Growth delay ORPHA:329971
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Cyanosis, Severe failure to th... ORPHA:740
Multiple Endocrine Neoplasia Type 2
Pallor, Cervical neoplasm ORPHA:653
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Von Hippel-Lindau Disease
Epididymal cyst, Papillary cystadenoma of the epididymis, Pallor ORPHA:892
Neurofibroma
Enlargement of parotid gland, Abnormal biliary tract morphology ORPHA:252183
Cerebrotendinous Xanthomatosis
Cholelithiasis OMIM:213700
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Pallor ORPHA:667
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Sparse eyebrow, Sparse scalp hair ORPHA:464738
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Hepatomegaly, Synophrys OMIM:301066
Proteus Syndrome
Hyperkeratosis, Splenomegaly OMIM:176920
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Splenic cyst, Patent foramen ovale, Cardiomegaly, Pancreatitis, Li... OMIM:620371
Cowden Syndrome 6
Varicocele, Hydrocele testis, Ovarian cyst, Goiter OMIM:615109
Bohring-Opitz Syndrome
Cholelithiasis, Hypertrichosis, Annular pancreas, Synophrys ORPHA:97297
Trisomy 8P
Low posterior hairline, Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism ORPHA:264450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Splenomegaly, Neoplasm ... ORPHA:77293
Alström Syndrome
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Hypoplasia of the Ley... ORPHA:64
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary at... ORPHA:2255
Goodpasture Syndrome
Weight loss, Pallor OMIM:233450
Cerebrotendinous Xanthomatosis
Prolonged neonatal jaundice, Cholelithiasis ORPHA:909
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Splenomegaly, Cirrhosis, Splenic ... ORPHA:355
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Splenomegaly ORPHA:2072
22Q11.2 Deletion Syndrome
Cholelithiasis, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Multiple renal cysts, Hyp... ORPHA:567
Steinert Myotonic Dystrophy
Cholelithiasis, Alopecia, Elevated circulating hepatic transaminase concentration, Decreased resp... ORPHA:273
Sarcoidosis
Hepatic failure, Decreased liver function, Portal hypertension, Abnormal liver parenchyma morphol... ORPHA:797
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor... ORPHA:774
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Hepatic steatosis, Ovarian cyst, Splenomegaly, Parathyroi... OMIM:188400
Congenital Total Pulmonary Venous Return Anomaly
Low 5-minute APGAR score, Low 1-minute APGAR score, Pallor ORPHA:99125
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... ORPHA:2495
Williams Syndrome
Cholelithiasis, Multiple renal cysts, Cryptorchidism, Polycystic ovaries ORPHA:904
Pmm2-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyo... ORPHA:79318
Cowden Syndrome
Abnormal penis morphology, Failure to thrive, Abnormality of the uterus, Endometrial carcinoma, E... ORPHA:201
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma OMIM:167000
Proteus Syndrome
Long penis, Thymus hyperplasia, Splenomegaly, Enlarged polycystic ovaries, Cachexia, Testicular n... ORPHA:744
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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