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

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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 (656 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 And Body Hemihypertrophy	Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog...	ORPHA:293964
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Large for gestational age, Truncal obesity	OMIM:240900
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Polycystic ovaries, Decreased serum leptin, Lipodystrophy, Increased intraabdominal...	ORPHA:79085

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

Disease	Matching phenotypes	Source
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia	OMIM:600496
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 3	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus	OMIM:602485
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 7	Maturity-onset diabetes of the young, Type II diabetes mellitus	OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4	Maturity-onset diabetes of the young, Type II diabetes mellitus	OMIM:606392
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus, Diabetes mellitus	OMIM:125852
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14	Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:616511
Hyperinsulinemic Hypoglycemia, Familial, 5	Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609968
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
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
Pancreas, Dorsal, Agenesis Of	Abnormality of the pancreas, Diabetes mellitus	OMIM:167755
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,...	OMIM:610021
Hepatic Adenomas, Familial	Polycystic ovaries, Maturity-onset diabetes of the young	OMIM:142330
46,Xx Testicular Disorder Of Sex Development	Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size	ORPHA:393
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Gonadoblastoma	Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear...	ORPHA:206484
Maturity-Onset Diabetes Of The Young, Type 1	Maturity-onset diabetes of the young	OMIM:125850
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr...	ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis	OMIM:601820
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 4	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609975
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia	OMIM:307500
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Beta-cell dysfunction, Diabetes mellitus	OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo...	OMIM:256450
Multiple Symmetric Lipomatosis	Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology	ORPHA:2398
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism	ORPHA:242
Insulinomatosis And Diabetes Mellitus	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,...	OMIM:147630
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog...	ORPHA:293964
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia	OMIM:610582
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia...	ORPHA:411593
Hyperinsulinism Due To Glucokinase Deficiency	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper...	ORPHA:79299
Transient Neonatal Diabetes Mellitus	Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you...	ORPHA:99886
Lipodystrophy, Familial Partial, Type 1	Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss...	OMIM:608600
Cortisone Reductase Deficiency 2	Insulin resistance, Premature pubarche	OMIM:614662
46,Xx Sex Reversal 5	Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level	OMIM:618901
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Pancreatitis, Hepatomegaly, Lipoatrophy, Polycystic ovaries, Diabetes mellitus,...	ORPHA:79084
Ovarian Fibrothecoma	Increased serum testosterone level, Abnormal endometrium morphology, Abnormal circulating hormone...	ORPHA:314478
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 6	Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo...	OMIM:606762
Complete Androgen Insensitivity Syndrome	Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal...	ORPHA:99429
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty	ORPHA:2229
Optic Atrophy--Spastic Paraplegia Syndrome	Abnormal oral glucose tolerance	OMIM:311100
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased adipose t...	ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr...	ORPHA:71526
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Diabetes Mellitus, Permanent Neonatal, 4	Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia	OMIM:618858
Lipodystrophy, Familial Partial, Type 3	Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Polycystic ovar...	OMIM:604367
Plin1-Related Familial Partial Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ...	ORPHA:280356
Partial Androgen Insensitivity Syndrome	Urogenital sinus anomaly, Abnormal circulating estrogen level, Increased serum testosterone level...	ORPHA:90797
Hypersecretion Of Adrenal Androgens, Familial	Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration	OMIM:145295
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst	ORPHA:397685
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism	OMIM:613546
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased serum testosterone level, Ambiguous genitalia, female, Precocious puberty, Decreased ci...	ORPHA:90795
46,Xy Sex Reversal 11	Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem...	OMIM:273250
Glycogen Storage Disease Vi	Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride...	OMIM:232700
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit...	ORPHA:324575
Mody	Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly...	ORPHA:552
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ...	OMIM:228300
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Hypothalamic gon...	OMIM:618841
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie...	ORPHA:90301
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Failure to thrive, Hyperinsulinemia	OMIM:606528
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:314802
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia	ORPHA:35878
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglyc...	OMIM:262190
Maturity-Onset Diabetes Of The Young, Type 11	Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:613375
Rudiger Syndrome	Ovarian cyst, Bicornuate uterus, Micropenis	OMIM:268650
Growth Hormone Insensitivity Syndrome	Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli...	ORPHA:181393
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:616950
Estrogen Resistance	Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance	OMIM:615363
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi...	OMIM:614841
Preaxial Hallucal Polydactyly	Diabetes mellitus	OMIM:601759
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow...	OMIM:262400
Ovarian Hyperstimulation Syndrome	Increased serum testosterone level, Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating...	ORPHA:64739
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc...	ORPHA:276580
46,Xx Ovotesticular Disorder Of Sex Development	Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid...	ORPHA:2138
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Ambiguous genitalia, female, Decreased circulating cortisol level, Increased circulating renin le...	ORPHA:90791
Short Stature Due To Ghsr Deficiency	Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ...	ORPHA:314811
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Generalized ...	OMIM:612526
Xp22.3 Microdeletion Syndrome	Polycystic ovaries, Hypogonadotropic hypogonadism	ORPHA:1643
Lipodystrophy, Partial, Acquired, Susceptibility To	Polycystic ovaries, Diabetes mellitus	OMIM:608709
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Flexion contracture, Hyperglycemia	OMIM:618856
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,...	ORPHA:276608
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic stea...	OMIM:613877
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased serum testosterone level, Decreased circulating aldosterone level, Hypoplasia of the ut...	OMIM:202010
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure	OMIM:261650
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc...	OMIM:617885
Functioning Gonadotropic Adenoma	Increased serum testosterone level, Adrenocorticotropic hormone deficiency, Abnormal prolactin le...	ORPHA:91348
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary, Increased serum t...	ORPHA:247768
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc...	ORPHA:276575
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Large for gestational age, Truncal obesity	OMIM:240900
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ...	ORPHA:171706
Immunodeficiency 69	Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa...	OMIM:618963
Uterine Anomalies	Abnormality of the uterus, Bicornuate uterus	OMIM:192000
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Polycystic ovaries, Decreased serum leptin, Lipodystrophy, Increased intraabdominal...	ORPHA:79085
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:108420
Acquired Partial Lipodystrophy	Insulin resistance, Lipoatrophy, Hepatic steatosis	ORPHA:79087
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Cranial Nerves, Recurrent Paresis Of	Diabetes mellitus	OMIM:218200
Polyembryoma	Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve...	ORPHA:180229
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Decreased testicular size, Hypogonadism	ORPHA:1875
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis	OMIM:615703
Diabetes And Deafness, Maternally Inherited	Type II diabetes mellitus, Hyperglycemia	OMIM:520000
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Bangstad Syndrome	Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp...	ORPHA:1227
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Hyperinsulinemia	ORPHA:329249
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimu...	ORPHA:90793
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elevated circulating C-reactive protein concentration, Cellulitis, Hepatosplenomegaly, Arthritis,...	OMIM:604416
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete...	OMIM:616033
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Glycosuria, Hyperglycemia	OMIM:618857
Lipodystrophy, Familial Partial, Type 2	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m...	OMIM:151660
Lipe-Related Familial Partial Lipodystrophy	Increased adipose tissue around the neck, Hepatomegaly, Polycystic ovaries, Loss of gluteal subcu...	ORPHA:435660
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m...	OMIM:610947
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity	ORPHA:369873
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone concentration,...	ORPHA:168563
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre...	OMIM:615954
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Decreased testicular...	ORPHA:3085
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Hypocalcemia, Splenomegaly, Reduced bone mineral density, Abnormality of throm...	ORPHA:172
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Hepatomegaly	OMIM:615158
Sickle Cell Anemia	Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o...	ORPHA:232
Lipodystrophy, Familial Partial, Type 6	Abdominal obesity, Lipodystrophy, Diabetes mellitus, Insulin resistance, Hepatic steatosis	OMIM:615980
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Delayed Puberty, Self-Limited	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:619613
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu...	ORPHA:79644
Donohue Syndrome	Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Ovari...	OMIM:246200
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adren...	OMIM:262700
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia, Clitoral hy...	ORPHA:96181
Hyperinsulinism Due To Ucp2 Deficiency	Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket...	ORPHA:276556
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:66628
Hypophosphatasia	Recurrent fractures, Craniosynostosis, Hypercalcemia, Anemia, Failure to thrive in infancy	ORPHA:436
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Polycystic ovaries, Increa...	ORPHA:2298
Immunodeficiency 27A	Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Hypoa...	OMIM:209950
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Bone cyst, Hypercalcemia	ORPHA:2668
Retinitis Pigmentosa	Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Ab...	ORPHA:791
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
47,Xyy Syndrome	Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico...	ORPHA:8
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:179494
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep...	ORPHA:363400
Blue Diaper Syndrome	Increased body weight, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia, Recu...	ORPHA:94086
Ovarian Dysgenesis 10	Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Decreased ...	OMIM:619834
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Diab...	OMIM:609069
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Elevated hepatic tr...	ORPHA:2089
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology	OMIM:609812
Testicular Agenesis	Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn...	ORPHA:325124
Insulinoma	Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl...	ORPHA:97279
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Osteopenia, Chondrocalcinosis, Generalized osteoporosis, Hypercalcemia, Infanti...	ORPHA:99879
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Abnormality of the urethra, Abnormality of the ovary	ORPHA:2795
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level...	OMIM:619665
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly	ORPHA:66518
Preeclampsia	Polycystic ovaries, Type I diabetes mellitus	ORPHA:275555
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula...	OMIM:610475
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo...	OMIM:619326
Leydig Cell Hypoplasia	Decreased serum testosterone concentration, Cryptorchidism, Abnormal external genitalia, Abnormal...	ORPHA:755
Premature Ovarian Failure 8	Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Decreased serum e...	OMIM:615723
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad...	ORPHA:453533
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin...	OMIM:614897
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased circulating androgen concentration, Hypergonadotropic hypogonadism, Primary gonadal ins...	ORPHA:90796
Adamantinoma	Hypercalcemia, Pathologic fracture	ORPHA:55881
Celiac Disease, Susceptibility To, 1	Failure to thrive, Hypocalcemia, Steatorrhea, Osteoporosis, Iron deficiency anemia, Macrocytic an...	OMIM:212750
Non-Functioning Pituitary Adenoma	Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui...	ORPHA:91349
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperinsulinemia, Flexion contracture, Loss of truncal subcutaneous adipose ...	OMIM:608612
Congenital Generalized Lipodystrophy	Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Polycystic ovar...	ORPHA:528
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level	OMIM:607398
Ataxia-Telangiectasia	Type II diabetes mellitus, Delayed puberty, Diabetes mellitus, Polycystic ovaries, Aplasia/Hypopl...	ORPHA:100
Hypergonadotropic Hypogonadism And Partial Alopecia	Hypergonadotropic hypogonadism, Streak ovary	OMIM:241090
Cidec-Related Familial Partial Lipodystrophy	Polycystic ovaries, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabet...	ORPHA:435651
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, D...	ORPHA:90794
Mandibuloacral Dysplasia	Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc...	ORPHA:2457
Short Syndrome	Glucose intolerance, Lipoatrophy, Inguinal hernia, Small for gestational age, Lipodystrophy, Insu...	OMIM:269880
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:609016
Mccune-Albright Syndrome	Increased serum testosterone level, Precocious puberty, Elevated circulating growth hormone conce...	ORPHA:562
Pigmented Nodular Adrenocortical Disease, Primary, 1	Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo...	OMIM:610489
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Flexion contracture, Lipodystrophy, Hypogonadism, Insulin resistance, Cryptorchidis...	OMIM:615381
Perlman Syndrome	Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly, Inguinal hernia, Femoral hernia, Cr...	ORPHA:2849
Rhabdoid Tumor	Weight loss, Anemia, Thrombocytopenia, Hypercalcemia	ORPHA:69077
Spermatogenic Failure, X-Linked, 4	Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein...	OMIM:301077
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid...	OMIM:220111
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypercalcemia, Craniosynostosis	OMIM:614732
X-Linked Intellectual Disability, Van Esch Type	Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptorchidism, Hypergonad...	ORPHA:163976
Late-Onset Isolated Acth Deficiency	Failure to thrive, Decreased circulating cortisol level, Eosinophilia, Normocytic anemia, Macrocy...	ORPHA:199299
Hypophosphatasia, Infantile	Failure to thrive, Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossificat...	OMIM:241500
Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increased hepatic glycogen content...	ORPHA:263455
Pparg-Related Familial Partial Lipodystrophy	Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Polycystic ovaries, Cirrhosis, Maternal di...	ORPHA:79083
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc...	ORPHA:75564
Familial Partial Lipodystrophy, Dunnigan Type	Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Polycystic ovaries, Lipodystro...	ORPHA:2348
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy...	OMIM:617872
Primary Lipodystrophy	Type II diabetes mellitus, Pancreatitis, Lipoatrophy, Splenomegaly, Polycystic ovaries, Cirrhosis...	ORPHA:90970
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Hypergonadotropic hypogonadism, Polycystic ovaries, Insulin-resistant diabetes mellitus	OMIM:268020
Hypercalcemia, Infantile, 2	Failure to thrive, Hypophosphatemia, Hypercalcemia	OMIM:616963
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level, Hepatic...	OMIM:615238
Galactokinase Deficiency	Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h...	ORPHA:79237
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Cryptorch...	OMIM:175700
Distal Monosomy 10P	Polycystic ovaries, Cryptorchidism, Hypoplasia of penis	ORPHA:1580
Poems Syndrome	Sclerosis of skull base, Sclerosis of foot bone, Polycythemia, Thrombocytosis, Lipodystrophy, Dia...	ORPHA:2905
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Hypercholanemia, Familial 1	Failure to thrive, Rickets, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Isolated Follicle Stimulating Hormone Deficiency	Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo...	ORPHA:52901
Infantile Myofibromatosis	Bone cyst, Chondrocalcinosis, Osteolysis, Hypercalcemia, Limitation of joint mobility	ORPHA:2591
Pituicytoma	Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons...	ORPHA:251623
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp...	OMIM:617156
Rabson-Mendenhall Syndrome	Increased serum testosterone level, Precocious puberty, Diabetic ketoacidosis, Long penis, Hypoth...	ORPHA:769
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Metacarpal periosteal thickening, Hyperphosphatemia, Hypercalcemia, Calvarial osteosc...	OMIM:617994
Thymic Neuroendocrine Tumor	Osteopenia, Weight loss, Hypercalcemia, Increased circulating cortisol level	ORPHA:97289
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
46,Xx Sex Reversal 2	Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B...	OMIM:278850
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Hepatomegaly, Polycystic ovaries, Cirrhosis, Generalized lipodystrophy, Acute p...	ORPHA:79086
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased serum testosterone concentration, Cryptorchidism, Decreased testicular size, Hypogonadi...	OMIM:300869
Hypertriglyceridemia 1	Hypertriglyceridemia, Glucose intolerance	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypertriglyceridemia, Glucose intolerance	OMIM:144600
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati...	OMIM:614842
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187950
Congenital Factor Vii Deficiency	Ovarian cyst	ORPHA:327
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatomegaly, Hepatic failure, Increased hepatic glycogen content, He...	ORPHA:2088
Mandibuloacral Dysplasia With Type A Lipodystrophy	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ...	OMIM:248370
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia, Hypercalcemia	ORPHA:2123
Tetragametic Chimerism	Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,...	ORPHA:199310
46,Xy Partial Gonadal Dysgenesis	Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal...	ORPHA:251510
Adrenocortical Carcinoma	Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h...	ORPHA:1501
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi...	OMIM:615710
Combined Oxidative Phosphorylation Deficiency 54	Hypergonadotropic hypogonadism, Obesity, Hyperglycemia	OMIM:619737
Bardet-Biedl Syndrome 9	Obesity, Truncal obesity, Hyperglycemia	OMIM:615986
Ovarian Fibroma	Ovarian fibroma, Gonadal calcification, Abnormality of the ovary	ORPHA:314473
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric...	OMIM:241520
Blue Diaper Syndrome	Hypercalcemia, Abnormal circulating tryptophan concentration	OMIM:211000
Estrogen Resistance Syndrome	Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ...	ORPHA:785
X-Linked Intellectual Disability, Cilliers Type	Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic hypogonadism, Hypos...	ORPHA:163971
3-Methylglutaconic Aciduria Type 1	Hypoglycemia, Failure to thrive, Hepatomegaly	ORPHA:67046
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ...	ORPHA:398063
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ...	ORPHA:86841
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency	ORPHA:436182
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Aplasia of the ovary, Elevated circulating follic...	OMIM:614324
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypophosphatemia, Hypocalcemia	OMIM:619073
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,...	OMIM:214150
Fibrous Dysplasia Of Bone	Hypophosphatemia, Fibrous dysplasia of the bones, Increased circulating cortisol level, Osteomala...	ORPHA:249
Placental Insufficiency	Insulin resistance, Small for gestational age	ORPHA:439167
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Adrenocortical adenoma	ORPHA:681
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Failure to thrive, Hypokalemia, Hepatosplenomegaly, Hemolytic ...	OMIM:611590
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypophosphatemia, Rickets, Hypercalcemia	OMIM:612089
Growth Factors, Combined Defect Of	Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ...	OMIM:233805
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Osteomyelitis, Hypocalcemia, Increased bone mineral density, Craniosynostosis,...	OMIM:259700
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma...	ORPHA:457059
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level...	OMIM:619203
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, ...	ORPHA:251004
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma...	ORPHA:983
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Chondrocalcinosis, Osteomalacia, Multiple lipomas, Hypercalcemia, Hypermagnesemia	OMIM:600740
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Flexion contracture	OMIM:615883
Premature Ovarian Failure 17	Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad...	OMIM:619146
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Symptomatic Form Of Hemochromatosis Type 1	Testicular atrophy, Cholangiocarcinoma, Decreased serum testosterone concentration, Hepatomegaly,...	ORPHA:465508
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Primary Myelofibrosis	Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy...	ORPHA:824
Addison Disease	Failure to thrive, Decreased circulating cortisol level, Normocytic anemia, Increased circulating...	ORPHA:85138
Perrault Syndrome 2	Streak ovary	OMIM:614926
Solitary Fibrous Tumor/Hemangiopericytoma	Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, Hypoglycemia, Recurrent hy...	ORPHA:2126
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
2P21 Microdeletion Syndrome	Hypoglycemia, Failure to thrive, Hypocalcemia	ORPHA:163693
49,Xxxyy Syndrome	Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo...	ORPHA:261534
Mpi-Cdg	Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis,...	ORPHA:79319
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Pancreatitis, Hepa...	ORPHA:280365
Hypocalcemic Vitamin D-Resistant Rickets	Recurrent fractures, Hypophosphatemia, Bone cyst, Hypocalcemia, Abnormal adipose tissue morpholog...	ORPHA:93160
Paget Disease Of Bone 2, Early-Onset	Sclerosis of skull base, Fractures of the long bones, Osteolysis, Increased susceptibility to fra...	OMIM:602080
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B...	ORPHA:261529
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Failure to thrive, Small for gestational age, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli...	ORPHA:73272
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Failure to thrive, Hypercalcemia	OMIM:239199
Xp22.13P22.2 Duplication Syndrome	Polycystic ovaries, Macroorchidism	ORPHA:284180
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona...	OMIM:308700
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Lower-limb joint contracture, Glycosuria, Neonatal insulin-dependent diabetes ...	ORPHA:99885
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Hypogonadism, Central hypothyroidism	OMIM:616113
Cowden Syndrome 5	Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Goiter, Thyroid adenoma, Thyroid...	OMIM:615108
Beta-Ketothiolase Deficiency	Leukocytosis, Hyperammonemia, Hypoglycemia, Thrombocytosis, Hyperuricemia, Weight loss, Hyperglyc...	ORPHA:134
Cowden Syndrome 6	Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Varicocele, Goiter, Thyroid aden...	OMIM:615109
Sting-Associated Vasculopathy, Infantile-Onset	Joint stiffness, Failure to thrive, Elevated circulating C-reactive protein concentration, Lympho...	OMIM:615934
Premature Ovarian Failure 10	Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Hypothyroidism, Decrease...	OMIM:612885
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Pituitary Hormone Deficiency, Combined, 2	Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro...	OMIM:262600
Congenital Disorder Of Glycosylation, Type Ia	Failure to thrive, Flexion contracture, Steatorrhea, Osteopenia, Thrombocytosis, Hypocholesterole...	OMIM:212065
Familial Hypocalciuric Hypercalcemia	Lipoma, Renal hypophosphatemia, Chondrocalcinosis, Osteomalacia, Hypercalcemia, Hypermagnesemia, ...	ORPHA:405
Multiple Myeloma	Splenomegaly, Osteopenia, Hyperproteinemia, Pathologic fracture, Elevated circulating creatinine ...	ORPHA:29073
Metaphyseal Chondrodysplasia, Jansen Type	Hip contracture, Hypophosphatemia, Osteopenia, Pathologic fracture, Hypercalcemia, Knee flexion c...	OMIM:156400
Hypercalcemia, Infantile, 1	Infantile hypercalcemia, Weight loss, Failure to thrive	OMIM:143880
Short Syndrome	Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Weight loss, Abnormal dent...	ORPHA:3163
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency anemia, Rickets	ORPHA:89937
Multiple Endocrine Neoplasia Type 4	Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A...	ORPHA:276152
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Decreased testicular size, Hypogonadism	OMIM:614962
Necrotizing Enterocolitis	Peritonitis, Small for gestational age, Abnormal glucose homeostasis, Hyperglycemia	ORPHA:391673
Hypervitaminosis A, Susceptibility To	Hypercalcemia	OMIM:240150
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:614034
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Micropenis	ORPHA:335
Neonatal Hemochromatosis	Hypoglycemia, Prolonged neonatal jaundice, Congenital hepatic fibrosis	ORPHA:446
Fanconi Renotubular Syndrome 2	Osteopenia, Hypophosphatemia, Glycosuria, Rickets	OMIM:613388
Hyperparathyroidism, Neonatal Severe	Recurrent fractures, Failure to thrive, Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis...	OMIM:239200
Hypophosphatemic Rickets	Joint stiffness, Failure to thrive, Hypophosphatemia, Fibrous dysplasia of the bones, Osteomalaci...	ORPHA:437
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila...	ORPHA:1772
Ovarian Dysgenesis 2	Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Delayed puberty, Streak ovary	OMIM:300510
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypo...	ORPHA:53
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Failure to thrive, Hypophosphatemia, Hypokalemia, Osteomalac...	OMIM:227810
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Asplenia, Isolated Congenital	Thrombocytosis, Asplenia, Howell-Jolly bodies	OMIM:271400
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Polycystic ovaries, Gonadal dysgenesis	ORPHA:1770
Oculoskeletodental Syndrome	Hypocalcemia, Small for gestational age, Splenomegaly, Elbow flexion contracture, Hypercalcemia	OMIM:618440
X-Linked Acrogigantism	Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h...	ORPHA:300373
Cowden Syndrome 1	Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Varicocele, Goiter, Ovarian carc...	OMIM:158350
Bangstad Syndrome	Goiter, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal insuffici...	OMIM:210740
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, H...	ORPHA:369
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypophosphatemia, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes mellitus, Rickets...	OMIM:616026
Acute Adrenal Insufficiency	Failure to thrive, Decreased circulating cortisol level, Normocytic anemia, Increased circulating...	ORPHA:95409
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri...	OMIM:613027
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep...	OMIM:608594
Premature Ovarian Failure 5	Hypoplasia of the ovary, Streak ovary	OMIM:611548
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Hypokalemia, Rickets	OMIM:602722
Bartter Syndrome, Type 1, Antenatal	Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Osteopenia, Chondrocal...	OMIM:601678
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Hypocalcemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con...	OMIM:179800
Familial Multiple Lipomatosis	Insulin resistance, Lipodystrophy, Increased adipose tissue	ORPHA:199276
Mastocytosis	Recurrent fractures, Splenomegaly, Osteoporosis, Mastocytosis, Chronic leukemia, Hypercalcemia, A...	ORPHA:98292
Non-Functioning Paraganglioma	Weight loss, Hypercalcemia	ORPHA:94080
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Hypocalcemia, Failure ...	ORPHA:289157
Hepatocellular Carcinoma	Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Polycythemia, Hypoglycemia, Thrombocy...	ORPHA:88673
Acth Deficiency, Isolated	Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena...	OMIM:201400
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Rickets	OMIM:193100
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss, Hypercalcemia, Hypernatremia	ORPHA:35710
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Ovarian cyst, Pancreatic adenocarcinoma, Endometrial carcinoma	ORPHA:454840
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy...	OMIM:306000
Seckel Syndrome 10	Glucose intolerance, Elevated circulating luteinizing hormone level, Glycosuria, Impaired glucose...	OMIM:617253
Autosomal Recessive Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Calvarial osteoscl...	ORPHA:93324
Lipodystrophy, Congenital Generalized, Type 4	Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Lipodystrop...	OMIM:613327
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, F...	OMIM:600081
Hypophosphatemic Bone Disease	Hypophosphatemia, Osteomalacia, Rickets	OMIM:146350
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Cholestatic liver disease, Flexion contracture, Inguinal hernia, Chol...	ORPHA:440713
46,Xy Sex Reversal 7	Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the...	OMIM:233420
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ...	ORPHA:95699
Satoyoshi Syndrome	Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of...	ORPHA:3130
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Axial Osteomalacia	Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density	OMIM:109130
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytosis, Nonketotic hypoglycemia, Weight loss, H...	ORPHA:20
Oculocerebrodental Syndrome	Enamel hypoplasia, Hypocalcemia, Hypercalcemia	ORPHA:557003
Hemochromatosis, Type 4	Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa...	OMIM:606069
X-Linked Agammaglobulinemia	Failure to thrive, Osteomyelitis, Hypocalcemia, Cellulitis, Arthritis, Weight loss, Neutropenia, ...	ORPHA:47
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Decreased serum testosterone c...	ORPHA:432
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Fanconi Renotubular Syndrome 1	Hypophosphatemia, Hypokalemia, Osteomalacia, Glycosuria, Rickets	OMIM:134600
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep...	OMIM:269700
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,...	OMIM:194072
Hemochromatosis, Neonatal	Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis,...	OMIM:231100
Alg6-Cdg	Puberty and gonadal disorders, Increased circulating androgen concentration	ORPHA:79320
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Cirrhosis, Hepatic fibrosis	OMIM:602579
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Hyperinsulinemic hypoglycemia, Acute hepatic failure, Hypoketotic hypoglycemia...	ORPHA:71212
Silver-Russell Syndrome	Precocious puberty, Cachexia, Decreased testicular size, Insulin resistance, Recurrent hypoglycem...	ORPHA:813
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, T lymphocytopenia	DECIPHER:16
Pseudohypoparathyroidism Type 1B	Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Enamel hypoplasia, Hypocalcem...	ORPHA:94089
Werner Syndrome	Slender build, Type II diabetes mellitus, Thyroid carcinoma, Ovarian neoplasm, Lipoatrophy, Chond...	ORPHA:902
Frasier Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo...	ORPHA:347
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary	OMIM:609993
Glucocorticoid Deficiency 1	Failure to thrive, Decreased circulating cortisol level, Increased circulating ACTH level, Abnorm...	OMIM:202200
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, F...	OMIM:264700
Parathyroid Carcinoma	Hypophosphatemia, Lipoma, Chondrocalcinosis, Osteoporosis, Hypercalcemia, Infantile hypercalcemia...	ORPHA:143
Luscan-Lumish Syndrome	Polycystic ovaries	OMIM:616831
Leprechaunism	Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Failure to thrive, Hyperinsuline...	ORPHA:508
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo...	OMIM:612310
Cholestasis, Progressive Familial Intrahepatic, 1	Failure to thrive, Splenomegaly, Osteopenia, Conjugated hyperbilirubinemia, Rickets	OMIM:211600
49,Xyyyy Syndrome	Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo...	ORPHA:99330
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Immunodeficiency 92	Osteomyelitis, Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proporti...	OMIM:619652
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Lymphopenia, Leukocytosis, Splenomegaly, H...	OMIM:615688
Cystic Echinococcosis	Ovarian cyst, Renal cyst, Abnormality of the testis size, Hepatic cysts	ORPHA:400
Premature Ovarian Failure 16	Elevated circulating follicle stimulating hormone level, Decreased serum estradiol	OMIM:618723
Bile Acid Synthesis Defect, Congenital, 1	Failure to thrive, Hyperbilirubinemia, Steatorrhea, Splenomegaly, Hypocholesterolemia, Rickets	OMIM:607765
Peutz-Jeghers Syndrome	Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Neoplasm of the pancreas	OMIM:175200
Pancreatic Agenesis 1	Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficien...	OMIM:260370
Hypophosphatasia, Adult	Recurrent fractures, Chondrocalcinosis, Osteomalacia, Pathologic fracture, Increased susceptibili...	OMIM:146300
Alstrom Syndrome	Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac...	OMIM:203800
Neuroleptic Malignant Syndrome	Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H...	ORPHA:94093
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Type I diabetes mellitus, Osteoporosis, Rickets	OMIM:560000
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Hepatic failure, Splenomegaly	ORPHA:664
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Decreased serum testosterone concentration, Cryptorchidism, Small pituitary gland, Streak ovary, ...	ORPHA:2232
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Hypophosphatemic rickets, Hypophosphatemia, Delayed epiphyseal ossification,...	OMIM:241530
Cystinosis	Failure to thrive, Hypophosphatemia, Hypokalemia, Type I diabetes mellitus, Rickets	ORPHA:213
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypothyroidism, Hypopituitarism, Hyperglycemia	ORPHA:90065
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Thrombocytosis, Hypoalbuminemia, Hypoproteinemia, Iron deficiency anemia	OMIM:226300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Craniosynostosis, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Joint hypermobility, Obesity	ORPHA:369837
Autoimmune Hypoparathyroidism	Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemi...	ORPHA:36913
Somatostatinoma	Steatorrhea, Increased circulating cortisol level, Hypochromic microcytic anemia, Hypercalcemia, ...	ORPHA:97283
Vipoma	Hypokalemia, Increased circulating cortisol level, Hypercalcemia, Diabetes mellitus, Subcutaneous...	ORPHA:97282
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co...	OMIM:600785
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Polycystic ovaries, Premature thelarche, Type I diabetes mellitus, Nodular goiter	ORPHA:371428
Proteus-Like Syndrome	Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland	ORPHA:2969
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, F...	OMIM:277440
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Glycosuria, Rickets	OMIM:615605
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia	OMIM:615361
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Increased bone mineral density, Small for gestational age, Anemia, Hyperphosphatemi...	OMIM:127000
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Hypocalcemia, Calvarial osteosclerosis, Anemia, Decreased skull ossification	OMIM:244460
Monosomy 13Q34	Insulin resistance, Infantile hypercalcemia, Obesity	ORPHA:96168
Aromatase Deficiency	Type II diabetes mellitus, Eunuchoid habitus, Hypergonadotropic hypogonadism, Macroorchidism, pos...	ORPHA:91
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Art...	OMIM:301074
Glucagonoma	Steatorrhea, Increased circulating cortisol level, Acanthocytosis, Hypercalcemia, Diabetes mellit...	ORPHA:97280
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:619048
Gracile Bone Dysplasia	Failure to thrive, Hypocalcemia, Hypoplastic spleen, Decreased skull ossification, Asplenia	OMIM:602361
Dend Syndrome	Hyperglycemia	ORPHA:79134
Hypocalciuric Hypercalcemia, Familial, Type Ii	Chondrocalcinosis, Multiple lipomas, Hypercalcemia, Hypermagnesemia	OMIM:145981
Infantile Systemic Hyalinosis	Polycystic ovaries, Aplasia/Hypoplasia of the thymus, Abnormality of the adrenal glands	ORPHA:2176
Trichohepatoenteric Syndrome 1	Failure to thrive, Splenomegaly, Small for gestational age, Hypermethioninemia, Abnormality of ir...	OMIM:222470
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Pseudohypoparathyroidism, Type Ib	Obesity, Hypocalcemia, Hyperphosphatemia	OMIM:603233
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k...	OMIM:608189
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia, Failure to thrive, Hypocalcemia	OMIM:606407
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis,...	ORPHA:199296
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Hypophosphatemia, Reduced bone mineral density, Osteomalacia, Pathologi...	ORPHA:157215
Carney Complex	Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a...	ORPHA:1359
Zollinger-Ellison Syndrome	Lipoma, Increased circulating cortisol level, Multiple lipomas, Hypercalcemia, Increased glucagon...	ORPHA:913
Propionic Acidemia	Hypoglycemia, Hepatomegaly	ORPHA:35
Renal Tubular Acidosis Iii	Hypokalemia, Osteomalacia, Rickets	OMIM:267200
Carnitine Deficiency, Systemic Primary	Failure to thrive, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Decreased carnitine...	OMIM:212140
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating lute...	ORPHA:572333
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Hyperinsulinemia, Insulin resistance	ORPHA:230
Brucellosis	Failure to thrive, Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocyt...	ORPHA:1304
Atypical Werner Syndrome	Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Ovarian neoplasm, Lipoatrophy, De...	ORPHA:79474
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Hyperinsulinemia, Decreased response to growth hormone stimulation test...	ORPHA:3464
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Enamel hypoplasia, Thrombocytosis, Impaired ...	OMIM:243150
Heart Defects, Congenital, And Other Congenital Anomalies	Failure to thrive, Congenital diaphragmatic hernia, Inguinal hernia, Biliary atresia, Glycosuria,...	OMIM:600001
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Lipoma, Chondrocalcinosis, Osteoporosis, Hypercalcemia, Infantile hypercalcemia	ORPHA:99880
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Subcutaneous lipoma, Hypercalcemia, Increased circulating cortisol level	OMIM:131100
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Congenital Bile Acid Synthesis Defect Type 2	Failure to thrive, Hyperbilirubinemia, Steatorrhea, Extramedullary hematopoiesis, Abnormal serum ...	ORPHA:79303
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:94090
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Ane Syndrome	Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test...	ORPHA:157954
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Truncal obesity, Hypothyroidism, Diabetes mellitus, Insulin resistance, Cryptorc...	OMIM:616541
Alpha-Heavy Chain Disease	Anemia, Hypocalcemia, Splenomegaly	ORPHA:100025
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