Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Akt2 MGI:104874

Gene Summary

Name:

thymoma viral proto-oncogene 2

Synonyms:

2410016A19Rik, PKBbeta, PKB

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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased lean body mass	Akt2^tm1Wcs	HOM	Early adult	4.98×10^-18
increased total body fat amount	Akt2^tm1Wcs	HOM	Early adult	4.63×10^-26
increased total body fat amount	Akt2^tm1Wcs	HET	Early adult	3.95×10^-16
increased circulating calcium level	Akt2^tm1Wcs	HOM	Early adult	3.58×10^-05
increased lean body mass	Akt2^tm1Wcs	HET	Early adult	6.83×10^-14
decreased lean body mass	Akt2^tm1Wcs	HOM	Early adult	2.32×10^-11
abnormal glucose homeostasis	Akt2^tm1Wcs	HOM	Early adult	3.20×10^-08
decreased circulating triglyceride level	Akt2^tm1Wcs	HOM	Early adult	1.05×10^-21
increased bone mineral content	Akt2^tm1Wcs	HOM	Early adult	2.03×10^-05
abnormal bone mineralization	Akt2^tm1Wcs	HOM	Early adult	9.06×10^-15
thrombocytosis	Akt2^tm1Wcs	HOM	Early adult	7.94×10^-05
increased circulating glucose level	Akt2^tm1Wcs	HOM	Early adult	9.84×10^-05
decreased body weight	Akt2^tm1Wcs	HOM	Early adult	0.00
decreased bone mineral density	Akt2^tm1Wcs	HOM	Early adult	1.70×10^-07
decreased body weight	Akt2^tm1Wcs	HET	Early adult	3.16×10^-22
decreased lean body mass	Akt2^tm1Wcs	HET	Early adult	2.57×10^-05
increased circulating alkaline phosphatase level	Akt2^tm1Wcs	HOM	Early adult	2.20×10^-15
decreased body length	Akt2^tm1Wcs	HOM	Early adult	2.40×10^-10
abnormal bone structure	Akt2^tm1Wcs	HOM	Early adult	2.14×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

Legacy Phenotype Associated Images

Akt2^{tm1e(KOMP)Wtsi}
HOM, Male, WTSI

Akt2^{tm1e(KOMP)Wtsi}
HOM, Female, WTSI

Akt2^{tm1e(KOMP)Wtsi}
HOM, Male, WTSI

View all 167 images

Akt2^{tm1e(KOMP)Wtsi}
tail skin, HET, Male, WTSI

Akt2^{tm1e(KOMP)Wtsi}
tail skin, HOM, Female, WTSI

Human diseases caused by Akt2 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.

Human diseases associated with Akt2 (4 diseases)
Human diseases predicted to be associated with Akt2 (667 diseases)

The table below shows human diseases associated to Akt2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista...	ORPHA:79085
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964

The table below shows human diseases predicted to be associated to Akt2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus	OMIM:125852
Type 1 Diabetes Mellitus 20	Type I diabetes mellitus	OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9	Maturity-onset diabetes of the young	OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6	Maturity-onset diabetes of the young	OMIM:606394
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus	OMIM:600089
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Hepatic Adenomas, Familial	Maturity-onset diabetes of the young, Polycystic ovaries	OMIM:142330
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se...	ORPHA:206484
Maturity-Onset Diabetes Of The Young, Type 1	Maturity-onset diabetes of the young	OMIM:125850
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Multiple Symmetric Lipomatosis	Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology, Hepatomegaly	ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Polycystic ovaries	ORPHA:488191
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
46,Xx Sex Reversal 5	Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level	OMIM:618901
Cortisone Reductase Deficiency 2	Insulin resistance, Premature pubarche	OMIM:614662
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In...	OMIM:608600
Ovarian Fibrothecoma	Ovarian fibroma, Abnormal circulating hormone concentration, Abnormal endometrium morphology, Gon...	ORPHA:314478
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov...	ORPHA:79084
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia	OMIM:618858
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Optic Atrophy--Spastic Paraplegia Syndrome	Abnormal oral glucose tolerance	OMIM:311100
Obesity Due To Melanocortin 4 Receptor Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t...	ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone level, Testicular ne...	ORPHA:99429
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:604367
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H...	ORPHA:280356
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein...	ORPHA:90797
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism	ORPHA:397685
Spermatogenic Failure 15	Non-obstructive azoospermia, Abnormal circulating testosterone concentration, Spermatogenesis mat...	OMIM:616950
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism	OMIM:613546
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub...	ORPHA:90795
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor...	ORPHA:90301
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl...	ORPHA:324575
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv...	OMIM:232700
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	ORPHA:314802
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus	OMIM:268650
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia, Obesity	OMIM:620195
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc...	ORPHA:90791
Spermatogenic Failure 2	Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone concentration, Az...	OMIM:108420
Preaxial Hallucal Polydactyly	Diabetes mellitus	OMIM:601759
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Polycystic ovaries	ORPHA:1643
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Short Stature Due To Ghsr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased...	ORPHA:314811
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Flexion contracture	OMIM:618856
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly...	OMIM:612526
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis	OMIM:261650
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Hypopl...	OMIM:614841
Lipodystrophy, Familial Partial, Type 4	Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic stea...	OMIM:613877
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr...	ORPHA:91348
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista...	ORPHA:79085
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati...	OMIM:202010
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Increased serum t...	ORPHA:247768
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co...	OMIM:262400
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Polycystic ovaries	OMIM:608709
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Polycystic ...	OMIM:615363
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Glycosuria	OMIM:618857
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes...	ORPHA:276575
Spermatogenic Failure 77	Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulating testosterone co...	OMIM:620103
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Acquired Partial Lipodystrophy	Hepatic steatosis, Insulin resistance, Lipoatrophy	ORPHA:79087
Cranial Nerves, Recurrent Paresis Of	Diabetes mellitus	OMIM:218200
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Hepatic steatosis, Type II diabetes mellitus, Obesity	OMIM:615703
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ...	ORPHA:435660
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay...	OMIM:616033
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst	OMIM:617100
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the...	ORPHA:180229
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle...	OMIM:604416
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ...	OMIM:151660
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating...	ORPHA:1227
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ...	OMIM:158330
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, Elevated circulating...	OMIM:618086
Delayed Puberty, Self-Limited	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:619613
Progressive Familial Intrahepatic Cholestasis	Abnormality of thrombocytes, Splenomegaly, Reduced bone mineral density, Hypocalcemia, Failure to...	ORPHA:172
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia...	ORPHA:3085
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Insulin resistance, Abdominal obesity, Hepatic steatosis	OMIM:615980
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa...	OMIM:615962
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Hypophosphatasia	Failure to thrive in infancy, Recurrent fractures, Hypercalcemia, Craniosynostosis, Anemia	ORPHA:436
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster...	ORPHA:96181
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Ovarian cyst, Severe fail...	OMIM:246200
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Hypercalcemia, Anemia	ORPHA:2668
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone...	OMIM:616030
Spermatogenic Failure 14	Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concentration, Elevated ...	OMIM:615842
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Salmonella osteomyelitis, Hypoalbumi...	OMIM:209950
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ...	ORPHA:276556
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity	ORPHA:369873
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Blue Diaper Syndrome	Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,...	ORPHA:94086
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Abnor...	ORPHA:2298
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab...	ORPHA:791
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Insulin...	ORPHA:363400
Ovarian Dysgenesis 10	Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ...	OMIM:619834
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp...	ORPHA:2089
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Hypocalcemia, Stea...	OMIM:212750
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Ovarian Dysgenesis 9	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary...	OMIM:619665
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc...	ORPHA:453533
Preeclampsia	Type I diabetes mellitus, Polycystic ovaries	ORPHA:275555
47,Xyy Syndrome	Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoosperm...	ORPHA:8
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Premature Ovarian Failure 8	Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e...	OMIM:615723
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Decreased serum estradi...	OMIM:618117
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Polycys...	ORPHA:435651
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoospermia, Elevated c...	OMIM:301077
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia	OMIM:607398
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Hypophosphatemia, Generalized osteoporosis, Chondrocalcinosis	ORPHA:99879
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Ambiguous genitalia, male, Decreased serum estradiol, Decreased circula...	ORPHA:90796
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue los...	ORPHA:528
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:609016
Ataxia-Telangiectasia	Diabetes mellitus, Polycystic ovaries, Type II diabetes mellitus, Delayed puberty, Abnormal testi...	ORPHA:100
Leydig Cell Hypoplasia	Abnormal internal genitalia, Decreased serum testosterone concentration, Hypospadias, Abnormal ex...	ORPHA:755
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Hypertriglyceridemia, Impaired glucose tolerance, Type II diabetes mellitus	OMIM:610947
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Failure to thrive, Hypoglycemia, Hypercalcemi...	ORPHA:199299
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis...	OMIM:608612
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries	ORPHA:2795
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose...	ORPHA:2457
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Cry...	OMIM:615381
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia, Weight loss	ORPHA:69077
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Decreased circulating luteinizing hor...	OMIM:614897
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypercalcemia, Craniosynostosis	OMIM:614732
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Hyperlipidemia	OMIM:604484
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Premature ...	ORPHA:90794
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a...	OMIM:617780
Premature Ovarian Failure 21	Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll...	OMIM:620311
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati...	ORPHA:562
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Hyperinsulinemia, Abnormal pancrea...	ORPHA:2849
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren...	OMIM:262700
Galactokinase Deficiency	Hepatomegaly, Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsul...	ORPHA:79237
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism, Polycystic ovaries	OMIM:268020
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Increased susceptibility to fract...	OMIM:241500
Short Syndrome	Inguinal hernia, Lipodystrophy, Lipoatrophy, Small for gestational age, Insulin resistance, Absen...	OMIM:269880
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Mater...	ORPHA:79083
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod...	ORPHA:2348
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Pituicytoma	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased response to ...	ORPHA:251623
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic isle...	ORPHA:263455
Infantile Myofibromatosis	Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Chondrocalcinosis	ORPHA:2591
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis, Hepatic...	OMIM:615238
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis	OMIM:620357
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint con...	OMIM:175700
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Hypercholanemia, Familial 1	Failure to thrive, Rickets, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co...	OMIM:614839
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Pancre...	OMIM:609069
Thymic Neuroendocrine Tumor	Osteopenia, Increased circulating cortisol level, Hypercalcemia, Weight loss	ORPHA:97289
Distal Deletion 10P	Cryptorchidism, Hypoplasia of penis, Polycystic ovaries	ORPHA:1580
Poems Syndrome	Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Weight loss, Sc...	ORPHA:2905
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Rabson-Mendenhall Syndrome	Enlarged ovaries, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mellitus, Long p...	ORPHA:769
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the...	OMIM:614842
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Decreased serum estradiol, Elevated circulating follicle stimulating ho...	OMIM:617690
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia	OMIM:145750
Abdominal Obesity-Metabolic Syndrome 3	Hypercholesterolemia, Hyperglycemia, Hypertriglyceridemia, Type II diabetes mellitus	OMIM:615812
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi...	ORPHA:79086
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Placental Insufficiency	Insulin resistance, Small for gestational age	ORPHA:439167
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence...	ORPHA:163976
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism, Obesity	OMIM:619737
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st...	OMIM:615710
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Congenital Factor Vii Deficiency	Ovarian cyst	ORPHA:327
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ...	OMIM:248370
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Fibrous Dysplasia Of Bone	Thin bony cortex, Diabetes mellitus, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bones,...	ORPHA:249
Fanconi-Bickel Syndrome	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino...	ORPHA:2088
Bardet-Biedl Syndrome 9	Truncal obesity, Hyperglycemia, Obesity	OMIM:615986
Cole Disease	Hyperglycemia	OMIM:615522
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Ovarian Dysgenesis 3	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:614324
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypocalcemia, Hypophosphatemia	OMIM:619073
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Hypercalcemia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis	OMIM:600740
Premature Ovarian Failure 18	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary...	OMIM:619203
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Cryptorchidism, Insulin resistance, Flexion contrac...	OMIM:214150
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc...	OMIM:602080
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Hypercalcemia, Craniosynostosis, Abnormal dental enamel morphology, Obesity,...	ORPHA:251004
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ...	OMIM:259700
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis	ORPHA:436182
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Addison Disease	Hyponatremia, Normocytic anemia, Failure to thrive, Decreased circulating cortisol level, Hypogly...	ORPHA:85138
Premature Ovarian Failure 17	Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad...	OMIM:619146
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Perrault Syndrome 2	Streak ovary	OMIM:614926
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
2P21 Microdeletion Syndrome	Failure to thrive, Hypoglycemia, Hypocalcemia	ORPHA:163693
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata...	OMIM:262600
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Hypogonadotropic hyp...	ORPHA:52901
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem...	OMIM:600081
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog...	ORPHA:2126
Chromosome Xq27.3-Q28 Duplication Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster...	OMIM:300869
Ring Chromosome Y Syndrome	Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor...	ORPHA:261529
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to th...	ORPHA:79319
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Failure to thrive, Hypercalcemia	OMIM:239199
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ...	ORPHA:280365
Beta-Ketothiolase Deficiency	Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis, Hyperglyc...	ORPHA:134
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Azoospermia, Hypoplasia of the ovary, Elevated ci...	OMIM:612885
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Hyp...	ORPHA:93160
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Premature Ovarian Failure 9	Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul...	OMIM:615724
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo...	ORPHA:29073
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l...	ORPHA:163971
Cowden Syndrome 5	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go...	OMIM:615108
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Steatorrhea, Hypo...	OMIM:212065
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Pseudopseudohypoparathyroidism	Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity	ORPHA:79445
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Elevated circulating C-reactive protein concentration, Joint stiffness, Leukop...	OMIM:615934
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Decreased serum leptin	OMIM:614962
Cowden Syndrome 6	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va...	OMIM:615109
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Failu...	ORPHA:73272
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypophosphatemia, Pathologi...	OMIM:156400
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Adrenocortical adenoma	ORPHA:681
Hyperparathyroidism, Neonatal Severe	Calcinosis, Recurrent fractures, Hypercalcemia, Splenomegaly, Hypophosphatemia, Failure to thrive...	OMIM:239200
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia	OMIM:615453
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ...	OMIM:614034
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint contracture, Glycosur...	ORPHA:99885
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res...	ORPHA:3163
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat...	OMIM:617872
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Delayed puberty	OMIM:300510
Congenital Fibrinogen Deficiency	Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size	ORPHA:335
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice	ORPHA:446
Necrotizing Enterocolitis	Hyperglycemia, Peritonitis, Small for gestational age, Abnormal glucose homeostasis	ORPHA:391673
49,Xxxyy Syndrome	Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi...	ORPHA:261534
Non-Functioning Paraganglioma	Hypercalcemia, Weight loss	ORPHA:94080
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi...	ORPHA:95409
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypoglycemia, Hypouricemia, Large for gestational age, Rickets, Glycosuria, Hy...	OMIM:616026
Oculoskeletodental Syndrome	Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Hypocalcemia	OMIM:618440
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Polycystic ovaries	ORPHA:1770
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio...	OMIM:601678
Premature Ovarian Failure 5	Streak ovary, Hypoplasia of the ovary	OMIM:611548
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab...	OMIM:264700
Ovarian Dysgenesis 8	Elevated circulating luteinizing hormone level, Hypoplastic labia majora, Decreased serum estradi...	OMIM:618187
Cowden Syndrome 1	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,...	OMIM:158350
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi...	OMIM:617253
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Failure to thrive, Rickets	OMIM:602722
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodys...	OMIM:608594
Familial Multiple Lipomatosis	Insulin resistance, Lipodystrophy, Increased adipose tissue	ORPHA:199276
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidem...	ORPHA:369
Bangstad Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go...	OMIM:210740
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst	ORPHA:454840
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,...	OMIM:201400
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia	OMIM:193100
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibilit...	ORPHA:289157
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Flexion contracture, Hyperinsuline...	OMIM:613327
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ...	ORPHA:405
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Autosomal Recessive Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os...	ORPHA:93324
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, Recurrent hypogly...	ORPHA:20
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Hypophosphatemia	OMIM:146350
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glyco...	OMIM:227810
Satoyoshi Syndrome	Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of...	ORPHA:3130
Oculoskeletodental Syndrome	Hypercalcemia, Enamel hypoplasia, Hypocalcemia	ORPHA:557003
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li...	ORPHA:440713
Normosmic Congenital Hypogonadotropic Hypogonadism	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N...	ORPHA:432
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia	OMIM:612462
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
X-Linked Agammaglobulinemia	Osteomyelitis, Thrombocytopenia, Cellulitis, Weight loss, Arthritis, Hypocalcemia, Neutropenia, F...	ORPHA:47
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Alg6-Cdg	Puberty and gonadal disorders, Increased circulating androgen concentration	ORPHA:79320
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Increased circulating free fatty acid level...	ORPHA:71212
Luscan-Lumish Syndrome	Polycystic ovaries	OMIM:616831
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa...	OMIM:606069
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp...	OMIM:614129
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Reduced int...	OMIM:269700
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Failure to thrive	OMIM:602579
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine...	OMIM:260370
Monosomy 13Q34	Insulin resistance, Hypercalcemia, Obesity	ORPHA:96168
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Hemochromatosis, Neonatal	Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat...	OMIM:231100
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,...	OMIM:241530
Werner Syndrome	Lipodystrophy, Lipoatrophy, Insulin resistance, Ovarian neoplasm, Hypogonadism, Thyroid carcinoma...	ORPHA:902
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Insulin resistance, O...	ORPHA:813
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Failure to thrive	OMIM:211600
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va...	OMIM:194072
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary	OMIM:609993
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia, Failure t...	OMIM:607765
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic aplasia	OMIM:615935
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Alstrom Syndrome	Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea...	OMIM:203800
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Premature Ovarian Failure 16	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level	OMIM:618723
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Glycosuria, Hypophosphatemia	OMIM:613388
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu...	ORPHA:347
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, Joint hypermobility	ORPHA:369837
Immunodeficiency 92	Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop...	OMIM:619652
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins...	ORPHA:508
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Failure to thrive, Osteoporosis, Rickets	OMIM:560000
Cystic Echinococcosis	Ovarian cyst, Renal cyst, Hepatic cysts, Abnormality of the testis size	ORPHA:400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:615688
Cystinosis	Rickets, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus, Failure to thrive	ORPHA:213
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm	OMIM:175200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries	ORPHA:371428
Autoimmune Hypoparathyroidism	Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi...	ORPHA:36913
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Weight loss, Arthritis, Iron deficiency an...	OMIM:301074
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni...	OMIM:614736
Cln3 Disease	Increased circulating androgen concentration	ORPHA:228346
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa...	ORPHA:2232
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia	ORPHA:664
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Hyperglycemia, Hypothyroidism	ORPHA:90065
Parathyroid Carcinoma	Hypercalcemia, Osteoporosis, Weight loss, Hypophosphatemia, Lipoma, Chondrocalcinosis	ORPHA:143
Proteus-Like Syndrome	Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries	ORPHA:2969
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp...	OMIM:127000
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Somatostatinoma	Diabetes mellitus, Hypercalcemia, Hypochromic microcytic anemia, Weight loss, Increased circulati...	ORPHA:97283
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab...	OMIM:277440
Hypocalciuric Hypercalcemia, Familial, Type Ii	Multiple lipomas, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis	OMIM:145981
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia	OMIM:244460
Fanconi Renotubular Syndrome 3	Glycosuria, Elevated circulating creatinine concentration, Rickets	OMIM:615605
49,Xyyyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:99330
Premature Ovarian Failure 14	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ...	OMIM:618014
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia	OMIM:261750
Gracile Bone Dysplasia	Asplenia, Decreased skull ossification, Hypocalcemia, Hypoplastic spleen, Failure to thrive	OMIM:602361
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy...	OMIM:222470
Vipoma	Diabetes mellitus, Hypercalcemia, Weight loss, Hypokalemia, Normochromic anemia, Increased circul...	ORPHA:97282
Hypotonia-Cystinuria Syndrome	Failure to thrive, Hypocalcemia, Neonatal hypoglycemia	OMIM:606407
Fanconi Renotubular Syndrome 1	Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Glycosuria	OMIM:134600
Aromatase Deficiency	Eunuchoid habitus, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycys...	ORPHA:91
Infantile Systemic Hyalinosis	Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries	ORPHA:2176
Dend Syndrome	Hyperglycemia	ORPHA:79134
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat...	OMIM:608189
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Glucagonoma	Diabetes mellitus, Hypercalcemia, Acanthocytosis, Weight loss, Normochromic anemia, Increased cir...	ORPHA:97280
Propionic Acidemia	Hepatomegaly, Hypoglycemia	ORPHA:35
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner...	ORPHA:157215
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Obesity	OMIM:603233
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Ane Syndrome	Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h...	ORPHA:157954
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Biliary ...	OMIM:600001
Brucellosis	Osteomyelitis, Thrombocytosis, Small for gestational age, Elevated circulating C-reactive protein...	ORPHA:1304
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Dec...	ORPHA:572333
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypoglycemia, Hypercalcemia, Subcutaneous lipoma	OMIM:131100
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Failure to thrive in infancy	ORPHA:6
Congenital Bile Acid Synthesis Defect Type 2	Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hyperbilirubin...	ORPHA:79303
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Zollinger-Ellison Syndrome	Hypercalcemia, Weight loss, Multiple lipomas, Increased circulating cortisol level, Lipoma, Incre...	ORPHA:913
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance	OMIM:619322
Interstitial Lung And Liver Disease	Intraalveolar phospholipid accumulation, Hyperammonemia, Thrombocytosis, Failure to thrive, Anemia	OMIM:615486
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre...	ORPHA:3464
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Weight loss	ORPHA:276621
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Mandibuloacral Dysplasia With Type B Lipodystrophy	Generalized lipodystrophy, Insulin resistance, Delayed puberty	ORPHA:90154
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Cryptorchidism, Insulin resistance, Truncal obesity, Hypothyr...	OMIM:616541
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma...	ORPHA:1359
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Atypical Werner Syndrome	Hepatic steatosis, Failure to thrive, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin...	ORPHA:79474
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp...	ORPHA:3260
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Hypocalcemia...	ORPHA:94089
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre...	OMIM:167800
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia...	ORPHA:1901
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J...	ORPHA:103918
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Inguinal hernia, Hypoglycemia, Small for gestational age,...	OMIM:613658
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Hypercalcemia	ORPHA:476126
Hyperparathyroidism, Transient Neonatal	Ovarian cyst, Hyperparathyroidism	OMIM:618188
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu...	OMIM:259720
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Thrombo...	ORPHA:324636
Whipple Disease	Hepatomegaly, Cachexia, Splenomegaly, Insulin resistance, Hypothyroidism	ORPHA:3452
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati...	OMIM:307800
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Osteoporosis, Hypophosphatemia, Lipoma, Chondrocalcinosis	ORPHA:99880
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase...	OMIM:261680
Dent Disease 1	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Glycosuria, Sparse b...	OMIM:300009
Syndromic Diarrhea	Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypopla...	ORPHA:84064
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm...	ORPHA:90790
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Ovarian serous cystadenoma	ORPHA:276280
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs	ORPHA:882
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren...	ORPHA:199296
Bardet-Biedl Syndrome 1	Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance,...	OMIM:209900
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete...	OMIM:241080
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:96182
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinoma, Multiple renal cysts	ORPHA:2869
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Autoimmune th...	ORPHA:37042
Primary Intestinal Lymphangiectasia	Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H...	ORPHA:90362
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Polycystic ovaries	ORPHA:264580
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Obesity, Hyperphosphatemia, Subcutaneous ossification, Hypocalcemic tetany, Enamel ...	OMIM:103580
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti...	ORPHA:3044
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Polycystic ovaries	ORPHA:79240
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Renal cyst, Ovarian cyst, Aplasia of the vagina, Ap...	OMIM:614527
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Flexion contracture, Breast aplasia	ORPHA:90153
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Weight loss	ORPHA:29072
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Ppoma	Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma, Weight loss	ORPHA:97278
Oncogenic Osteomalacia	Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypocalcemia, Hypophosphat...	ORPHA:352540
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Osteolysis, Increased susceptibility to fractures, Weight loss, Reduced bone miner...	ORPHA:652
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ...	OMIM:176270
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Increased susceptibil...	ORPHA:3337
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:617049
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H...	OMIM:618476
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Recurrent hypoglycemia,...	OMIM:124000
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemi...	ORPHA:79444
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95513
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95512
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis f...	ORPHA:79443
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Gitelman Syndrome	Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Glucose intolerance, Diabetic ke...	ORPHA:358
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia	ORPHA:3008
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure	OMIM:616483
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased...	ORPHA:189427
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Grfoma	Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma, Weight loss	ORPHA:97261
Bacterial Toxic-Shock Syndrome	Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Elevated circulatin...	ORPHA:36234
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Bloom Syndrome	Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ...	ORPHA:125
Congenital Disorder Of Glycosylation, Type Ig	Small for gestational age, Failure to thrive, Hypoglycemia, Hypocalcemia	OMIM:607143
Dent Disease	Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre...	ORPHA:1652
Sarcoidosis	Hemolytic anemia, Hypercalcemia, Eosinophilia, Scarring, Thrombocytopenia, Increased T cell count...	ORPHA:797
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis	ORPHA:2323
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Glycosuria, Failure to ...	ORPHA:411629
Autosomal Recessive Spastic Paraplegia Type 26	Decreased serum testosterone concentration	ORPHA:101006
Orofaciodigital Syndrome I	Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts	OMIM:311200
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Cryptorchidism, Long penis, Hypoplasia of the thymus, Increased serum testosterone l...	OMIM:264090
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,...	ORPHA:95496
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi...	ORPHA:79102
Timothy Syndrome	Hypoglycemia, Hypocalcemia	OMIM:601005
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Wiedemann-Rautenstrauch Syndrome	Hyperthyroidism, Hypospadias, Hypogonadotropic hypogonadism, Decreased response to growth hormone...	ORPHA:3455
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Steatorrhea	ORPHA:309031
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ...	OMIM:277900
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hyper...	OMIM:194050
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Leukocytosis, Failure to thrive, Hypochromic anemia	OMIM:618213
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures, Glycosuria	OMIM:268315
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Inguinal hernia, Failure to thrive in i...	ORPHA:904
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Thrombocyt...	ORPHA:2785
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Decreased serum testosterone concentration, Hypergonadotropic hypogonad...	ORPHA:2959
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis	OMIM:201450
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Hypocalcemia, Hypoketotic hypoglycemia	ORPHA:746
Pearson Syndrome	Reticulocytosis, Pancytopenia, Diabetes mellitus, Small for gestational age, Hypomagnesemia, Thro...	ORPHA:699
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot...	ORPHA:293987
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased serum testosterone concentration, Hypogonadism, Decreased testicular size	OMIM:201100
Pseudoleprechaunism Syndrome, Patterson Type	Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration	ORPHA:2976
Autosomal Dominant Hypocalcemia	Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Histiocytoid Cardiomyopathy	Renal cyst, Polycystic ovaries	ORPHA:137675
Spastic Paraplegia 26, Autosomal Recessive	Decreased serum testosterone concentration	OMIM:609195
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Osteopenia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia	OMIM:617913
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine...	ORPHA:18
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi...	ORPHA:411634
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia	OMIM:618838
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Elevated circulating creatine kinase concentration, Elevated maternal serum al...	OMIM:309000
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick...	ORPHA:89936
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Neutropenia, Joint hyperflexibility, Hypocalcemia, Abnormal bone o...	ORPHA:175
Pheochromocytoma	Hypercalcemia	OMIM:171300
Multiple Endocrine Neoplasia Type 2	Joint laxity, Reduced subcutaneous adipose tissue, Hypercalcemia	ORPHA:653
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia	ORPHA:173
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Hypoglycemia, Increased hepatocellular lipid droplets...	OMIM:220111
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypothyroidism, Delayed puberty, Thyroiditis, Polycystic ovaries	ORPHA:79259
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Osteomyelitis, Leukocytosis, Hyperinsulinemic hypoglycemia, Abnormality o...	ORPHA:2968
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis...	OMIM:616113
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Hypocalcemia	ORPHA:2238
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test, Obesity	ORPHA:444077
Cystinosis, Nephropathic	Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, Rickets, Reduced blo...	OMIM:219800
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,...	ORPHA:667
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit...	ORPHA:99889
Digeorge Syndrome	Parathyroid agenesis, Decreased circulating parathyroid hormone level, Parathyroid hypoplasia, Hy...	OMIM:188400
Scorpion Envenomation	Hyperglycemia, Acute pancreatitis, Glycosuria	ORPHA:466677
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99413
Turner Syndrome	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:881
Mosaic Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99228
Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99226
Double Outlet Right Ventricle	Failure to thrive, Hypocalcemia	ORPHA:3426
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst...	ORPHA:201
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Inguinal hernia, Hypoproteinemia, Hypocalcemia	OMIM:235255
Sotos Syndrome	Joint laxity, Hip contracture, Inguinal hernia, Hypercalcemia, Ankle flexion contracture, Cranios...	ORPHA:821
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hypocalcemia, Sept...	ORPHA:544482
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Inguinal hernia, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffness,...	ORPHA:534
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia	ORPHA:1655
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy...	ORPHA:2495
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co...	ORPHA:2671
Liver Disease, Severe Congenital	Hyponatremia, Joint laxity, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration...	OMIM:619991
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Rett Syndrome	Cholecystitis, Increased serum leptin	ORPHA:778
Doors Syndrome	Thrombocytosis, Sagittal craniosynostosis	ORPHA:79500
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decre...	ORPHA:93325
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei...	ORPHA:740
22Q11.2 Deletion Syndrome	Inguinal hernia, Abnormality of thrombocytes, Abnormal dental enamel morphology, Splenomegaly, Ob...	ORPHA:567
Occipital Horn Syndrome	Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis,...	ORPHA:198
Cranioectodermal Dysplasia 1	Joint laxity, Inguinal hernia, Sagittal craniosynostosis, Osteoporosis, Hypocalcemia, Enamel hypo...	OMIM:218330
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Absen...	ORPHA:495875
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia	ORPHA:163979
Opitz Gbbb Syndrome	Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum, T...	ORPHA:2745
Robinow Syndrome	Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, External...	ORPHA:97360
Hennekam Syndrome	Camptodactyly of finger, Craniosynostosis, Splenomegaly, Hypocalcemia, Lymphopenia	ORPHA:2136
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Isotretinoin-Like Syndrome	Inguinal hernia, Lymphopenia, Hypocalcemia	ORPHA:2306
Pmm2-Cdg	Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g...	ORPHA:79318
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res...	ORPHA:293978
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Diabetes mellitus, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Velocardiofacial Syndrome	Umbilical hernia, Inguinal hernia, Hypocalcemia	OMIM:192430
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Joint laxity, Hip contracture, Hyperextensibility of the finger joints, Hemolytic anemia, Reduced...	OMIM:619503
Nestor-Guillermo Progeria Syndrome	Decreased serum leptin	OMIM:614008
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Neoplasm of the thymus, Lon...	ORPHA:744
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Limb-Mammary Syndrome	Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u...	ORPHA:69085
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets	ORPHA:2636
Johanson-Blizzard Syndrome	Joint laxity, Diabetes mellitus, Small for gestational age, Increased VLDL cholesterol concentrat...	OMIM:243800
Keppen-Lubinsky Syndrome	Decreased serum leptin	OMIM:614098
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Umbilical hernia, Hypocalcemia	OMIM:620330
Generalized Arterial Calcification Of Infancy	Failure to thrive in infancy, Osteomalacia, Abnormal calcification of the carpal bones, Fused cer...	ORPHA:51608
Charge Syndrome	Omphalocele, Umbilical hernia, Lymphopenia, Hypocalcemia	OMIM:214800

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 Akt2

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 Akt2.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Akt2^{tm1e(KOMP)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Akt2^{tm1e(KOMP)Wtsi} Akt2^{tm1e(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Akt2^tm1Wcs Akt2^tm1Wcs	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Akt2^{tm1e(KOMP)Wtsi}	PMC5827107
Reporting phenotypes in mouse models when considering body size as a potential confounder.	Journal of biomedical semantics (February 2016)	Akt2^{tm1e(KOMP)Wtsi}	PMC4748495

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Akt2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Akt2^{tm40417(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Akt2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us