Registered for phenotyping at IMPC

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

Gene Summary

Name:
insulin receptor substrate 2
Synonyms:
Irs-2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Irs2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Irs2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853

The table below shows human diseases predicted to be associated to Irs2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Myocardial infarction, Diabetes mellitus OMIM:608320
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Congestive heart failure, Increased ... OMIM:615703
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased serum t... ORPHA:163976
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71526
Polyendocrine-Polyneuropathy Syndrome
Proximal muscle weakness in lower limbs, Central hypothyroidism, Hypoglycemia, Decreased serum te... ORPHA:453533
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries, ... ORPHA:280356
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Obesity, Polyphagia, Primary amenorrhea, Micropenis, Dec... OMIM:614962
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Episodic hyperhidrosis, Hypertrop... ORPHA:276575
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Abnorma... OMIM:614963
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertension, Hypertriglyceridemia, Hepatomeg... OMIM:608600
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Hyperinsulinism Due To Hnf1A Deficiency
Episodic hyperhidrosis, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypog... ORPHA:324575
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec... OMIM:620651
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276580
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased serum t... ORPHA:163971
Atherosclerosis Susceptibility
Myocardial infarction, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Unilateral renal agenesis, Decreased serum testosterone concentration, Decreased t... OMIM:308700
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... OMIM:606762
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... OMIM:616030
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism, Cryptorchidi... OMIM:300869
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Absence of pubertal development, Type II diabete... ORPHA:398079
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Skeletal muscle atrophy, Abnormal vagina morphology... ORPHA:168563
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habi... OMIM:308750
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Episodic hyperhidrosis, Recurrent hypoglycemia, Hypertrophi... ORPHA:276556
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Decreased te... OMIM:614897
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptor... ORPHA:3085
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia,... OMIM:613877
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... OMIM:614837
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Transient Neonatal Diabetes Mellitus
Macroglossia, Abnormality of the urinary system, Maturity-onset diabetes of the young, Failure to... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Hypertension, Pancre... ORPHA:79084
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity, Reduced social reciprocity, Aggressive behavior, Polyphagia ORPHA:329249
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, R... OMIM:606407
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Proximal muscle weakness in lower limbs, Elevated cir... ORPHA:171706
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... ORPHA:435660
Congenital Generalized Lipodystrophy
Insulin resistance, Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overg... ORPHA:528
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... ORPHA:98754
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... ORPHA:98793
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Central adrenal insufficiency, Cryptorchidism, P... ORPHA:739
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... ORPHA:177904
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... ORPHA:177901
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hyperchole... OMIM:612526
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi... ORPHA:398069
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Anterior pi... ORPHA:226307
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Panhypophysitis
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea... ORPHA:95513
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Normosmic Congenital Hypogonadotropic Hypogonadism
Absence of pubertal development, Non-obstructive azoospermia, Cryptorchidism, Increased female li... ORPHA:432
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia ORPHA:397685
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Decreased serum testosterone concentration, Hyperglycemia, Decreased libid... ORPHA:465508
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dilat... ORPHA:71212
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... OMIM:615812
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... OMIM:300148
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity, Hepatic steatosis, Polyphagia, Overgrowth OMIM:620195
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Skeletal muscle atrophy, Central adrenal insufficiency, Reduced subcutaneo... OMIM:612079
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Mody
Abnormal circulating insulin concentration, Nephropathy, Glycosuria, Insulin-resistant diabetes m... ORPHA:552
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Increased level of galactitol in urine, Hyperinsulinemia, Hepato... ORPHA:79237
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Hypertension,... OMIM:615238
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Small for gestational age, Abnormal thalamus morphology, Insulin-resis... ORPHA:2959
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Tall stature, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adi... OMIM:608594
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Meningioma
Increased circulating prolactin concentration, Lower limb muscle weakness, Neoplasm of the poster... ORPHA:2495
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Myopathy, Polycystic ovaries, Dysmenorrhe... ORPHA:79083
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Polyuria, Diabetes mellitus OMIM:222100
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... OMIM:612702
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... ORPHA:251510
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Autosomal Recessive Spastic Paraplegia Type 26
Abnormality of the urinary system, Skeletal muscle atrophy, Pseudobulbar paralysis, Decreased ser... ORPHA:101006
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Hepatic steatosis, Myopathy, Polycystic ovaries, Dysmenorrhea, Sp... ORPHA:2348
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Clitoral hypertrophy, Long penis, Skeletal muscle... OMIM:246200
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis ORPHA:85274
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Tall stature, Hyperinsulinemia, Type II diabetes mellitus, Decreased fertil... OMIM:269700
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Bardet-Biedl Syndrome 9
Irregular menstruation, Polydipsia, Hyperglycemia, Obesity, Renal insufficiency, Polyphagia, Trun... OMIM:615986
Sheehan Syndrome
Central adrenal insufficiency, Decreased serum estradiol, Breast hypoplasia, Obesity, Decreased f... ORPHA:91355
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity, Abnormality of the kidney OMIM:615988
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resista... OMIM:262190
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating... OMIM:619761
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity, Polyphagia OMIM:618406
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Clitoral hypertrophy, Long pe... ORPHA:769
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity, Polyphagia ORPHA:177910
Perlman Syndrome
Abnormal pancreas morphology, Tall stature, Hyperinsulinemia, Femoral hernia, Cryptorchidism, Nep... ORPHA:2849
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614880
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Primary... OMIM:616033
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... OMIM:275000
Combined Oxidative Phosphorylation Deficiency 54
Lower limb muscle weakness, Hyperglycemia, Obesity, Primary amenorrhea, Hypergonadotropic hypogon... OMIM:619737
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... OMIM:615363
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... OMIM:615954
Prader-Willi Syndrome
Small scrotum, Decreased muscle mass, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism... OMIM:176270
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Schaaf-Yang Syndrome
Hypogonadism, Failure to thrive in infancy, Obesity, Cryptorchidism, Polyphagia, Skin-picking, Mi... OMIM:615547
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Obesit... OMIM:609734
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Type II diabete... OMIM:618620
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity, Cryptorchidism, Hypohidrosis, Maternal diabetes, Anterior pituitary hypoplas... ORPHA:3157
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydroc... OMIM:614662
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... OMIM:202150
Bardet-Biedl Syndrome 10
Hypogonadism, Renal cyst, Obesity, Renal insufficiency OMIM:615987
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hype... ORPHA:91351
Mehmo Syndrome
External genital hypoplasia, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis, Diabetes m... ORPHA:85282
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, Cerebral is... ORPHA:90065
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Hyperglycemia, Hyp... OMIM:151660
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Polydipsia, Failure to thrive, Portal hyper... ORPHA:213
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Decreased testicular size, Hypogo... OMIM:616113
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Adrenocorticotropi... ORPHA:100083
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... ORPHA:54595
Bardet-Biedl Syndrome 5
Hypogonadism, External genital hypoplasia, Micropenis, Obesity OMIM:615983
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatom... ORPHA:363400
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy OMIM:520000
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Hepatic steatosis, Myopathy, Polycystic ovaries, Dysmen... ORPHA:280365
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone ... ORPHA:3044
Aromatase Deficiency
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Obesity, Abnormality of the thyroid gland... ORPHA:2234
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Decreased testicular size, Obesity, Cryptorchidism, Hypogonadotr... OMIM:610628
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Aromatase Deficiency
Insulin resistance, Female infertility, Male infertility, Ambiguous genitalia, female, Obesity, T... ORPHA:91
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Hepatic steatosis, Cryptorchidism, Telangiectasia of the s... OMIM:615381
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Luscan-Lumish Syndrome
Irregular menstruation, Obesity, Polycystic ovaries, Overgrowth, Polyphagia, Aggressive behavior,... OMIM:616831
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... OMIM:619868
Bardet-Biedl Syndrome 16
Renal agenesis, Hypogonadism, External genital hypoplasia, Obesity, Renal insufficiency, Stage 5 ... OMIM:615993
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Hypogonadism, Decreased testicular size, Cryptorchidism, Truncal obesity ORPHA:261483
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Atrioventricular block, Dilated cardiomyopathy, Hypo... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis, Decreased circu... OMIM:616829
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypoglycemia, Hepatic steatosis, Hepatomegaly, Hypop... OMIM:605911
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormality of the kidney, Ab... ORPHA:1772
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Pancreatic isle... ORPHA:263455
Frasier Syndrome
Focal segmental glomerulosclerosis, Decreased serum estradiol, Nephrotic syndrome, Streak ovary, ... ORPHA:347
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Hypopituitarism, Dec... ORPHA:90695
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti... ORPHA:69663
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Morgagni-Stewart-Morel Syndrome
Abnormality of the thyroid gland, Hyperuricemia, Hypertension, Hypothyroidism, Hypercholesterolem... ORPHA:77296
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:618220
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:618157
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Alstrom Syndrome
Irregular menstruation, Nephritis, Insulin-resistant diabetes mellitus, Chronic active hepatitis,... OMIM:203800
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul... OMIM:613038
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Abnormality of endocrine ... ORPHA:93111
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Coloboma Of Macula
Macular coloboma OMIM:120300
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:614480
Cystinosis, Nephropathic
Myopathy, Hematuria, Weight loss, Hepatomegaly, Dysphagia, Male infertility, Aminoaciduria, Gener... OMIM:219800
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Tall stature, ... OMIM:300942
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Decreased muscle mass, Hypogonadism, Decreased te... OMIM:229070
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Bardet-Biedl Syndrome 2
Hypogonadism, External genital hypoplasia, Diabetes mellitus, Obesity OMIM:615981
Whipple Disease
Insulin resistance, Polydipsia, Splenomegaly, Myositis, Cachexia, Hypothyroidism, Anorexia, Hepat... ORPHA:3452
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria ORPHA:2089
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Cholesteryl Ester Storage Disease
Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepat... ORPHA:75234
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Arrhythmia, Elevated circulating c... OMIM:616516
Pediatric-Onset Graves Disease
Graves disease, Failure to thrive, Polydipsia, Goiter, Puberty and gonadal disorders, Splenomegal... ORPHA:525731
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Attention deficit hyperactivit... ORPHA:73272
Wolfram Syndrome
Nephropathy, Male hypogonadism, Abnormality of the urinary system, Polydipsia, Recurrent urinary ... ORPHA:3463
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Hypoketotic hypoglycemia, Br... OMIM:610768
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Glycogen Storage Disease Ixc
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ... OMIM:613027
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Renal cyst, Abnormality of th... OMIM:615982
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
48,Xxyy Syndrome
Abnormal dental enamel morphology, Decreased testicular size, Azoospermia, Obesity, Type II diabe... ORPHA:10
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia, Weight loss, Nocturia, Diabetes insipidus ORPHA:178029
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Dysbetalipoproteinemia
Acute pancreatitis, Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, H... ORPHA:412
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr... OMIM:201100
Wolfram-Like Syndrome
Male hypogonadism, Glucose intolerance, Abnormality of the upper urinary tract, Central diabetes ... ORPHA:411590
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Non-Acquired Isolated Growth Hormone Deficiency
Microphallus, Decreased muscle mass, Delayed puberty, Abdominal obesity, Prolonged neonatal jaund... ORPHA:631
Ziegler-Huang Syndrome
Hypogonadism, Cryptorchidism, Elevated circulating follicle stimulating hormone level, Anterior p... OMIM:620501
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Cryptorchidism, Congenital hepatic fibrosis, Displacement of ... ORPHA:2377
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79444
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia ORPHA:488650
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ... ORPHA:90301
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea OMIM:300604
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Weight loss, Hy... OMIM:143880
Parathyroid Carcinoma
Abnormal parathyroid morphology, Weight loss, Dysphagia, Polydipsia, Pancreatic adenocarcinoma, T... ORPHA:143
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol response to insulin... ORPHA:361
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Skeletal muscle atrophy, Hypogonadism, Slender build, Thyr... ORPHA:902
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm OMIM:604370
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Proximal tubulopathy, Failure to thrive, Polyuria, Hepatomegaly OMIM:560000
Hereditary Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Weight loss ORPHA:30925
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomeg... OMIM:616828
Hepatic Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Fg Syndrome Type 1
Small pituitary gland, Umbilical hernia, Slender build, Cryptorchidism, Inguinal hernia, Attentio... ORPHA:93932
Glycogen Storage Disease Iii
Hepatic fibrosis, Hypoglycemia, Cardiomyopathy, Hyperlipidemia, Elevated circulating creatine kin... OMIM:232400
Adrenocortical Carcinoma
Increased circulating cortisol level, Abnormality of reproductive system physiology, Increased ur... ORPHA:1501
14Q11.2 Microduplication Syndrome
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior ORPHA:261229
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:168558
Analbuminemia
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... OMIM:616000
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Polydipsia, Spl... OMIM:239200
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Obesity, Cry... OMIM:616222
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperact... OMIM:620439
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Increased urinary cortisol level, Hepatic steatosis, Increa... ORPHA:189427
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Aids Wasting Syndrome
Skeletal muscle atrophy, Abnormal gonadotropin-releasing hormone concentration, Cachexia, Weight ... ORPHA:90081
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... ORPHA:399
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Hyperbilirubinemia, Absent g... OMIM:615710
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypog... ORPHA:95494
Steinert Myotonic Dystrophy
Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, Obsessive-compulsive trait, Pel... ORPHA:273
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Skeletal muscle atrophy, Abnormal fear-induced behavior, Increased circulating... OMIM:219090
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperlipidemia, Inc... ORPHA:369
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... OMIM:607616
Silver-Russell Syndrome
Insulin resistance, Precocious puberty, Premature adrenarche, Abnormal male external genitalia mo... ORPHA:813
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Female sexual dysfunction, Obesity, Restless legs, A... ORPHA:2073
Kleine-Levin Syndrome
Polydipsia, Decreased libido, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive com... ORPHA:33543
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, Decreased fertility, Abnormal testis morphology ORPHA:2233
Gitelman Syndrome
Type II diabetes mellitus, Rhabdomyolysis, Parathyroid adenoma, Tubulointerstitial nephritis, Uri... ORPHA:358
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ... ORPHA:90797
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ... ORPHA:293987
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Spastic Paraplegia 26, Autosomal Recessive
Upper limb muscle weakness, Lower limb muscle weakness, Decreased serum testosterone concentratio... OMIM:609195
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Type II diabetes mellitus, Hypercholesterolemia, Re... ORPHA:401923
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Myopathy, Proteinuria, Glomerulopathy, Microscopic hematur... ORPHA:79087
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Cryptorchidism, Inguinal hernia, ... OMIM:175700
Familial Chylomicronemia Syndrome
Acute pancreatitis, Pulmonary embolism, Increased circulating chylomicron concentration, Hepatosp... ORPHA:444490
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Cryptorchidism, Hernia of the abdominal wall, Aplasia/Hypoplasia of the testes, Hypoplas... ORPHA:3055
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Renal agenesis, Abnormality of the ovary, Obesity, Increased serum te... ORPHA:247768
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:173100
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Recurrent hypoglycemia, D... ORPHA:293978
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Ovarian Dysgenesis 2
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... OMIM:300510
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79443
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Truncal obesity, Anterior pituitary hypopl... OMIM:618160
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Cryptorchidism, Polyphagia, Motor stereotypy, Hyperactivity, Hypoplasia ... ORPHA:228402
48,Xxxy Syndrome
Small scrotum, Renal dysplasia, Hypogonadism, Decreased testicular size, Azoospermia, Obesity, Ty... ORPHA:96263
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Hypogonadism, Decreased testicular size, Abnormality of the... OMIM:209900
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Chondrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamart... ORPHA:99880
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Loss of truncal subcutaneous adipose tissue... OMIM:608709
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... OMIM:618697
Familial Hyperaldosteronism Type I
Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteroni... ORPHA:403
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Laron Syndrome
Hypoglycemia, Hypohidrosis, Delayed puberty, Hypercholesterolemia, Abnormality of the endocrine s... ORPHA:633
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Proteinuria, Type 2 muscle fib... OMIM:613845
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Truncal obesity ORPHA:3459
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato... OMIM:606069
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... OMIM:214150
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Vesicoureteral reflux, Cryptorchi... OMIM:615926
Deeah Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrine pancreatic in... OMIM:619004
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Renal Glucosuria
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria OMIM:233100
Familial Hyperaldosteronism Type Iii
Polydipsia, Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hyperc... ORPHA:251274
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hypogonadism, External genital hypoplasia, Obesity, Renal insufficiency, Hepati... OMIM:615996
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... OMIM:603471
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Bi... OMIM:620454
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Abnormal hepatic glycogen storage, Increased hepatic glyc... ORPHA:2088
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Macular coloboma, Retinal coloboma OMIM:107550
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Obesity, Oligomenorrhea OMIM:604931
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypoglycemia, Adrenocorticotropin de... ORPHA:199299
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Polydipsia, Failure to thrive, Renal insufficiency, Abnormality of circulating ... ORPHA:320
Erdheim-Chester Disease
Polydipsia, Xanthelasma, Renal insufficiency, Hydronephrosis, Hypogonadotropic hypogonadism, Weig... ORPHA:35687
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Obesity, Cryptorchidism, Delayed puberty, Micropenis OMIM:301900
Cog2-Cdg
Small pituitary gland ORPHA:435934
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Obesity, Cryptorchidism, Hyperactivity, Hypospadias, Diabetes mellitus OMIM:614613
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Portal hypertension, Hypothyroidi... ORPHA:79319
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Erythrokeratodermia Variabilis
Weight loss, Diabetes mellitus, Abnormal testis morphology ORPHA:317
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Nephrolithiasis, Abnormal circulating renin ORPHA:369929
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Kallmann Syndrome
Renal agenesis, Abnormal morphology of female internal genitalia, Breast hypoplasia, Hypothalamic... ORPHA:478
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Propionic Acidemia
Cardiomyopathy, Hypoglycemia, Hyperammonemia, Arrhythmia, Hepatomegaly ORPHA:35
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Tall stature, Decreased fertility, Weight loss, Renal... ORPHA:90794
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Generalized lipodystrophy, ... ORPHA:79474
Methanol Poisoning
Type I diabetes mellitus, Type II diabetes mellitus, Hyperlipidemia, Permanent atrial fibrillatio... ORPHA:31825
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Glycosuria, Pancre... ORPHA:99885
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... OMIM:603552
Angelman Syndrome
Self-injurious behavior, Precocious puberty in females, Delayed menarche, Inappropriate laughter,... ORPHA:72
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalc... OMIM:613677
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Polydipsia, Nephrolithiasis, Polyuria, Achilles t... OMIM:617994
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... OMIM:615849
Leprechaunism
Clitoral hypertrophy, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Decreased body weigh... ORPHA:508
Ochoa Syndrome
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Cryp... ORPHA:2704
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Orthostatic syncope, Hypoglycemia, Abnormal EKG, Elevated circulating creatin... ORPHA:230
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias ORPHA:141333
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Solitary Fibrous Tumor
Uterine neoplasm, Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Vaginal neoplasm, Pros... ORPHA:2126
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase, Postprandial hyper... ORPHA:681
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Cryptorchidism, Hypercholester... ORPHA:96184
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... ORPHA:3130
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Premature adrenarche, Insulin resistance, Failure to thrive, Decreased muscle... ORPHA:96182
East Syndrome
Polydipsia, Abnormal urinary electrolyte concentration, Lower limb muscle weakness, Renal magnesi... ORPHA:199343
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ... OMIM:194072
Beta-Ketothiolase Deficiency
Hypotension, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Hepatomegaly, Hypertension ORPHA:134
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Wagro Syndrome
Hypoplastic female external genitalia, Decreased testicular size, Obesity, Nephroblastoma, Reduce... OMIM:612469
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Elbow flexion cont... OMIM:248370
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Citrullinemia, Type Ii, Neonatal-Onset