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
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus 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
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Sudden cardiac death, Myocardial infarction, Hypertension, ... OMIM:610947
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Congestive heart failure, Myocardial... OMIM:615703
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:179494
Glycogen Storage Disease Ixa1
Hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomeg... OMIM:232700
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Delayed puberty, Cholestasis, Hyperinsulinemia, O... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Delayed puberty, Cholestasis, Hyperinsulinemia, O... ORPHA:71526
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
X-Linked Intellectual Disability, Van Esch Type
Impaired social interactions, Cryptorchidism, Decreased serum testosterone concentration, Microce... ORPHA:163976
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Leptin Deficiency Or Dysfunction
Primary amenorrhea, Micropenis, Obesity, Polyphagia, Decreased serum leptin, Abnormal eating beha... OMIM:614962
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Proximal muscle weakness in lower limbs, Obesity, Increased circulating T4 ... ORPHA:171706
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hepatic steatosis, Abnormal circulating hormone concentration, Polycystic ovaries, H... ORPHA:280356
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level, Decreased circulating fre... ORPHA:276575
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Fasting hypoglycemia, Neonatal hypoglycemia, Increas... ORPHA:324575
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertension, Hypertriglyc... OMIM:608600
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Delayed puberty, Obesity, Hypergonadotropic hypogonadism, Abnor... OMIM:614963
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Primary amenorrhea, Insulin resistance, Polycystic ovaries, Hyp... OMIM:604367
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level, Excessive insulin respons... ORPHA:276580
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Decreased serum testosterone concentration, Shyness, Microcephaly, Absence of sec... ORPHA:163971
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Hyperintensity of cerebral white matter on MRI, Decreased serum testoste... ORPHA:101006
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Diabetes insipidus, Insulin resistance, Hypercholesterolemia, Hypoplasia of penis, ... ORPHA:181393
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hypertriglyceridemia, Hypertension, Hyperinsulinemia ORPHA:71529
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Temple Syndrome
Small for gestational age, Cryptorchidism, Recurrent hypoglycemia, Obesity, Precocious puberty, T... ORPHA:254516
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, External genital hypopla... ORPHA:398079
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Decreased serum testosterone concentration, Abdominal ... OMIM:300869
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Atherosclerosis Susceptibility
Myocardial infarction, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Skeletal muscle atrophy, Gonadal dysge... ORPHA:168563
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotrop... OMIM:308750
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Increased C-peptide level, Decreased circulating free fatty acid level, Ex... ORPHA:276556
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotrop... OMIM:308700
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Polycystic ovaries, Hyperinsulinemia, Cryptorchidism, Obesity, Secondary amenorrhea, Typ... ORPHA:3085
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Insulin resistance, Insulin-resistant diabetes mellitus, Hypertension, Hypertr... OMIM:613877
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance, Truncal obesity ORPHA:140941
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Hypoglycemia, Amenorrhea,... ORPHA:95619
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Tall stature, Hypopituitarism, ... ORPHA:300373
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Micropenis, Decreased serum testos... ORPHA:261534
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Abnormality of the kidney, Macr... ORPHA:99886
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis OMIM:246650
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepatomegaly, Hypert... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Cystinuria, Nephrolithiasis, Hypergonadotropic hypogonadism, Failure to th... OMIM:606407
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Precocious puberty in females, Insulin resistance, Amenorrhea, ... ORPHA:528
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Hypoglycemic seizures, Cholestasis, Obesity, Adre... OMIM:609734
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopat... OMIM:610717
Ovarian Dysgenesis 2
Primary amenorrhea, Gonadal hypoplasia, Abnormality of the uterus, Secondary amenorrhea, Prematur... OMIM:300510
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:739
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Panhypopituitarism, Decreased thyroid-stimulating hormone level, Macroglossia, Decr... ORPHA:226307
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Lipodystrophy, Hepatic steatosis, Proximal muscle weakness in u... ORPHA:435660
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, Hyperinsulinemia, No social interaction, Obesity, Polyphagia ORPHA:329249
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Pituitary prolactin cell adenoma, Recurrent hypoglycem... ORPHA:97279
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... OMIM:618723
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabete... ORPHA:436182
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98754
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, Hypocalcemia, Sp... OMIM:612526
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98793
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177904
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Hyperostosis Frontalis Interna
Obesity, Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177901
Magel2-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, External genital hypopla... ORPHA:398069
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... ORPHA:99330
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Small for gestational a... ORPHA:79237
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Delayed puberty, Cryptorchidism, Micropenis, D... OMIM:614841
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypogonadotropic hypogonadism, Portal hypertension, Hypothyroidism, Amenorrhea, Erec... ORPHA:465508
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Obesity, Hypoplasia of penis, Type II diabetes melli... ORPHA:791
Panhypophysitis
Abnormality of the posterior pituitary, Panhypopituitarism, Hashimoto thyroiditis, Decreased seru... ORPHA:95513
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Cryptorchidism, Impotence, Male hypogonadism, Absence of pubertal development... ORPHA:432
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased testicular size OMIM:614880
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Polycystic ovaries, Hepatom... ORPHA:79085
Meningioma
Focal T2 hypointense thalamic lesion, Lower limb muscle weakness, Decreased serum estradiol, Incr... ORPHA:2495
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Multiple joint contractures, Delayed puberty, Small for gestational age, Micro... ORPHA:2959
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Ane Syndrome
Hypogonadotropic hypogonadism, Multiple joint contractures, Anterior pituitary hypoplasia, Abnorm... ORPHA:157954
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Small hypothenar eminence, Primary amenorrhea, Cryptorchidism, Decreased serum estra... ORPHA:2232
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Mehmo Syndrome
Hypoglycemia, Delayed puberty, Small for gestational age, Micropenis, Obesity, Microcephaly, Male... OMIM:300148
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Abnormal circulating lipid concentration, ... OMIM:615980
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis OMIM:612702
Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:398073
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Gonadal calcification, Ambiguous genitalia, Fem... ORPHA:206484
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Abnormal circulating corticosterone level, Elevated circulati... ORPHA:90796
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoglycemic seizures, Neonatal hypoglycemia, Increased C-peptide level, ... ORPHA:71212
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide level, Hepatomegaly, Decreased adip... OMIM:615238
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Ce... OMIM:301033
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Primary amenorrhea, Dorsocervical fat pad, Microcephaly, Delayed puberty, Hype... OMIM:616033
Type 1 Diabetes Mellitus
Polydipsia, Polyuria, Diabetes mellitus, Polyphagia, Hyperglycemia OMIM:222100
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Microcephaly, Polyphagia, Hypogonadism OMIM:617119
Lipodystrophy, Congenital Generalized, Type 2
Insulin-resistant diabetes mellitus at puberty, Labial hypertrophy, Polyphagia, Clitoral hypertro... OMIM:269700
Bardet-Biedl Syndrome 6
Renal cyst, Obesity, External genital hypoplasia, Diabetes mellitus, Hypospadias OMIM:605231
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Cholestasis, Skeletal muscle atrophy, Pancreatic islet-ce... OMIM:246200
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Pparg-Related Familial Partial Lipodystrophy
Primary amenorrhea, Diabetes mellitus, Calf muscle pseudohypertrophy, Pancreatitis, Oligomenorrhe... ORPHA:79083
Lipodystrophy, Congenital Generalized, Type 1
Insulin-resistant diabetes mellitus at puberty, Labial hypertrophy, Polyphagia, Clitoral hypertro... OMIM:608594
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone dystrophy, Retinal detachment, Cone/cone-rod dystrophy OMIM:304030
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Sheehan Syndrome
Hypoglycemia, Panhypopituitarism, Hashimoto thyroiditis, Decreased serum estradiol, Central adren... ORPHA:91355
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Insulin resistance, Polycystic ovaries, Dysmenorrhe... ORPHA:2348
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Absence of pube... ORPHA:785
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Micropenis, Obesity, Hypoplasia of penis, Hypogonadism ORPHA:85274
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Erectile dysfunction, Panhypopituitarism, Central adr... ORPHA:91349
Perrault Syndrome 6
Irregular menstruation, Primary amenorrhea, Streak ovary, Secondary amenorrhea, Premature ovarian... OMIM:617565
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hypoglycemia, Renal tubular dysfunction, Hyperinsulinemia, Failure to ... OMIM:606528
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism, Abnormality of the kidney OMIM:615988
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Decreased female libido, Amenorrhea, H... ORPHA:95512
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Neonatal hypoglycemia, Mu... ORPHA:79644
Bardet-Biedl Syndrome 9
Irregular menstruation, Polydipsia, Obesity, Truncal obesity, Renal insufficiency, Polyphagia, Hy... OMIM:615986
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Mody
Glycosuria, Exocrine pancreatic insufficiency, Neonatal hypoglycemia, Pancreatic hypoplasia, Hepa... ORPHA:552
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Nephrocalcinosis, Insulin resistance... ORPHA:769
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism, Abnormality of the kidney OMIM:615989
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Proteinuria, Postprandial hyperglycemia, Abnormal oral glucose tol... ORPHA:2298
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism, Obesity, External genital hypoplasia ORPHA:177910
Estrogen Resistance
Primary amenorrhea, Hyperinsulinemia, Impaired glucose tolerance, Glucose intolerance, Hypoplasia... OMIM:615363
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Diabetes Mellitus, Permanent Neonatal, 2
Reduced C-peptide level, Hyperglycemia, Type I diabetes mellitus OMIM:618856
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619761
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Neonatal hypoglycemia, Hypoglycemic seizures, Panhypopitui... OMIM:262600
Perlman Syndrome
Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology, Hypoplasia of penis, Hepatomegaly... ORPHA:2849
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Loss of gluteal subcutaneou... ORPHA:435651
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia OMIM:606762
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Failure to thrive in infancy, Cryptorchidism, External genital h... OMIM:176270
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Abnormality of the kidney, Renal insufficiency, Hypogonadism OMIM:615987
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, ... ORPHA:2457
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Anteri... ORPHA:3157
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Panhypopituitarism, Polydipsia, Anterior hypopituitarism, Increased c... ORPHA:91351
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612964
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency, Secondary amenorrhea OMIM:617175
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperlipidemia, Hyperinsulinemia, Delayed puberty, Micr... ORPHA:3464
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Craniopharyngioma
Central diabetes insipidus, Abnormal hypothalamus morphology, Hypogonadotropic hypogonadism, Cere... ORPHA:54595
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Increased intramuscular fat, Skeletal muscle hypertrophy, Hyperglycemia, Lipody... OMIM:151660
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Retinal Detachment
Retinal detachment OMIM:180050
Schaaf-Yang Syndrome
Flexion contracture, Failure to thrive in infancy, Cryptorchidism, Micropenis, Obesity, Arthrogry... OMIM:615547
Perrault Syndrome 4
Primary amenorrhea, Obesity, Decreased serum estradiol, Bicornuate uterus, Secondary amenorrhea, ... OMIM:615300
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Failure to thrive, Premature ovarian insufficiency, Hypogonadism... ORPHA:261483
Tetrasomy X
Premature ovarian insufficiency ORPHA:9
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Bardet-Biedl Syndrome 5
Micropenis, Obesity, Hypogonadism, External genital hypoplasia OMIM:615983
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Obesity, Abnormality of the kidney, External genital hypoplasia, Rena... OMIM:615993
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Congestive heart failure, Hypercholesterolemia, Cerebral hemorrhage, ST segment d... ORPHA:90065
Primary Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Polycystic ovaries, Congestive heart failu... ORPHA:90970
Ring Chromosome Y Syndrome
Unilateral cryptorchidism, Abnormality of the female genitalia, Perineal hypospadias, Abnormality... ORPHA:261529
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:2235
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Obesity, Diabetes ... OMIM:610628
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone level, Decreased serum tes... ORPHA:3044
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Hyperlipidemia, Micropenis, Decreased serum testosterone concentra... OMIM:241080
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cystinosis
Hypothyroidism, Portal hypertension, Renal tubular dysfunction, Proteinuria, Polydipsia, Aminoaci... ORPHA:213
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Hypertension, Hypertriglyc... ORPHA:363400
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Muscle hypertrophy of the lower extremities, Decreased adiponectin leve... ORPHA:280365
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Abnormality of the thyroid gland, Obesity, Hypoplasia of penis, Eunuchoid habitus,... ORPHA:2234
Aromatase Deficiency
Hepatic steatosis, Primary amenorrhea, Hyperlipidemia, Insulin resistance, Tall stature, Cryptorc... ORPHA:91
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Insulin resistance, Cryptorchidism, Hepatomegaly, Diabetes mellitus, Hypertrig... OMIM:615381
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Polycystic ovaries, Hyperinsulinemia, Abnormality ... ORPHA:1227
Oliver-Mcfarlane Syndrome
Hypogonadotropic hypogonadism, Delayed puberty, Small for gestational age, Cryptorchidism, Hypopl... OMIM:275400
Abdominal Obesity-Metabolic Syndrome 4
Myocardial infarction, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Hyperten... OMIM:618620
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, ... ORPHA:79086
Mehmo Syndrome
Cryptorchidism, Micropenis, Obesity, Hypoplasia of penis, External genital hypoplasia, Microcepha... ORPHA:85282
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia, Increased serum serotonin, Neuroen... ORPHA:100083
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Frasier Syndrome
Primary amenorrhea, Nephrotic syndrome, Proteinuria, Gonadal dysgenesis with female appearance, m... ORPHA:347
Congenital Glaucoma
Retinal detachment ORPHA:98976
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Arrhythmia, Hypertriglyceridemia, Increased L... OMIM:616516
Alstrom Syndrome
Hepatic steatosis, Irregular menstruation, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, ... OMIM:203800
Gangliocytoma
Adrenocorticotropic hormone excess, Decreased female libido, Amenorrhea, Abnormality of the pitui... ORPHA:251937
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency OMIM:615889
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Insulin resistance OMIM:617885
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Non-Acquired Panhypopituitarism
Infertility, Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Hypoglycemia, Ameno... ORPHA:90695
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Fasting hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hypophosphatemic ricke... ORPHA:263455
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Muscle hypertrophy of the lower extremities, ... ORPHA:1772
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Elevated ci... OMIM:615723
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Ele... OMIM:619203
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Polycystic ovaries, Abnormality of the ovary, Menorrhagia, Abnormality of the urethra... ORPHA:2795
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol c... OMIM:616829
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Glycosuria, Hypohidrosis, Failure to thrive in infancy, Protei... OMIM:219800
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Hepatic fibrosis OMIM:614480
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Temple Syndrome
Hypercholesterolemia, Cryptorchidism, Hypertriglyceridemia, Maturity-onset diabetes of the young,... OMIM:616222
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Secondary amenor... ORPHA:243
Bardet-Biedl Syndrome 17
Renal cyst, Micropenis, Obesity, Polyuria, Polydipsia, Stage 5 chronic kidney disease, Hypogonadism OMIM:615994
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfunction, Central a... ORPHA:91347
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Hypercholes... ORPHA:69663
Exudative Vitreoretinopathy 6
Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detach... OMIM:616468
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Ventricular fibrillation, Ventricular tachycardia, Arrhy... ORPHA:26793
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:618157
Premature Ovarian Failure 10
Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:612885
Pituitary Apoplexy
Central diabetes insipidus, Hypoglycemia, Abnormal caudate nucleus morphology, Oligomenorrhea, Hy... ORPHA:95613
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Hypopituitarism, Elevated circulating growth hormon... OMIM:300942
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... OMIM:619146
Wolfram Syndrome
Diabetes insipidus, Dysuria, Myopathy, Male hypogonadism, Diabetes mellitus, Abnormality of mesen... ORPHA:3463
Pseudohypoparathyroidism Type 1C
Cerebral calcification, Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Enamel... ORPHA:79444
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Microcephaly, Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal o... OMIM:618160
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Abnormality of the uterine cervix, Aplasia of the uterus, ... ORPHA:99429
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Renal agenesis, Hepatic steatosis, Hypothyroidism, P... ORPHA:93111
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Myocardial infarction, Elevated circulating apolipoprotein ... OMIM:144250
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries, Obesity, Shyness, Overgrowth, Polyphagia OMIM:616831
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Coloboma Of Macula
Macular coloboma OMIM:120300
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia, Cirrhosis, Adre... ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iiq
Secondary microcephaly, Small pituitary gland, Diffuse cerebral atrophy, Hypoplasia of the corpus... OMIM:617395
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Bardet-Biedl Syndrome 4
Renal cyst, Cryptorchidism, Obesity, Abnormality of the kidney, External genital hypoplasia, Hypo... OMIM:615982
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hypercholesterolemia, Abnormality of the thyroid gland, Hyperuricemia, Hypertensi... ORPHA:77296
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Intrahepatic cholestasis, H... OMIM:605814
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus, Hypogonadism, External genital hypoplasia OMIM:615981
Whipple Disease
Hypothyroidism, Myositis, Insulin resistance, Erectile dysfunction, Splenomegaly, Hepatomegaly, C... ORPHA:3452
Wolfram-Like Syndrome
Central diabetes insipidus, Primary gonadal insufficiency, Hypothyroidism, Abnormality of the upp... ORPHA:411590
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Premature ovarian insufficiency, Amenorrhea OMIM:619425
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Puberty and gonadal disorders, Increased circulating free T3,... ORPHA:525731
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, Hyperlipidemia ORPHA:2089
Graves Disease, Susceptibility To, 1
Graves disease, Polyphagia, Goiter, Weight loss, Hyperhidrosis OMIM:275000
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased circulating androgen concentration, Decreased circula... ORPHA:293978
Seckel Syndrome 10
Glycosuria, Hepatic steatosis, Acute pancreatitis, Insulin resistance, Congestive heart failure, ... OMIM:617253
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Insulin resistance, Polycystic ovaries, Elevated circulating growth hormone conc... ORPHA:90301
Primary Pigmented Nodular Adrenocortical Disease
Irregular menstruation, Diabetes mellitus, Increased circulating cortisol level, Hyperlipidemia, ... ORPHA:189439
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypothyroidism, Hypercholesterolemia, Hepatomegaly, Xanthe... ORPHA:412
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Splenomegaly, Hepatomegaly, Failure to thrive, Hypogo... OMIM:201100
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Decreased fertility, Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Cryptorchidism, Abnormal muscle fiber morphology, Inguinal hernia, C... OMIM:175700
Laurence-Moon Syndrome
Cryptorchidism, Obesity, Hypoplasia of penis, Congenital hepatic fibrosis, Displacement of the ur... ORPHA:2377
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Hepatomegaly, Failure to thrive, Diabetes mellitus, Type I diabet... OMIM:560000
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Septo-optic dysplas... ORPHA:95494
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Small for gestational age, Truncal obesity, Microcephaly, Failu... ORPHA:73272
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Microcephaly, Obesity OMIM:309585
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Irregular menstruation, Primary hyperparathyroidism, Hyperaldosteronism, Neuroendocrine neoplasm,... ORPHA:189427
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy, Insulin resistance, Abnormality of the ovary, Micropenis, Obesity, ... OMIM:209900
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Hyperparathyroidism, Neonatal Severe
Hypercalciuria, Polyuria, Primary hyperparathyroidism, Hepatomegaly, Splenomegaly, Hyperphosphatu... OMIM:239200
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss, Diabetes insipidus ORPHA:30925
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Parathyroid Carcinoma
Primary hyperparathyroidism, Uterine leiomyoma, Chondrocalcinosis, Lipoma, Dysphagia, Pancreatiti... ORPHA:143
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Cryptorchidism, Adrenocortical hypoplasia, Hypertriglyceridemia OMIM:307030
Distal Myopathy, Tateyama Type
Palpitations, Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Reduced subcutaneous adipose tissue, Microcephaly, Failure t... OMIM:609069
Macrosomia Adiposa Congenita
Polyphagia, Obesity, Large for gestational age, Adrenocortical adenoma OMIM:248100
Bardet-Biedl Syndrome 19
Renal insufficiency, Obesity, Hypogonadism, External genital hypoplasia OMIM:615996
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Abnormality of reproductive system physiolog... ORPHA:1501
Hepatic Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Central Diabetes Insipidus
Diabetes insipidus, Nocturia, Failure to thrive, Polydipsia, Weight loss ORPHA:178029
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Hypotension, Hypoalbuminemi... OMIM:616000
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Primary amenorrhea, Abnormality of the ovary, Increased serum testosterone level,... ORPHA:247768
Huntington Disease
Cerebral atrophy, Degeneration of the striatum, Caudate atrophy, Choking episodes, Abnormal libid... ORPHA:399
Silver-Russell Syndrome
Insulin resistance, Failure to thrive in infancy, Cryptorchidism, Abnormal vagina morphology, Rec... ORPHA:813
Pseudohypoparathyroidism Type 1A
Cerebral calcification, Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Enamel... ORPHA:79443
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
48,Xxyy Syndrome
Infertility, Tall stature, Azoospermia, Cryptorchidism, Obesity, Hypoplasia of penis, Inguinal he... ORPHA:10
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Decreased circulating ceruloplasmin conce... OMIM:616828
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Premature ovarian insufficiency ORPHA:126
Gitelman Syndrome
Proteinuria, Hashimoto thyroiditis, Chondrocalcinosis, Neoplasm of the pancreas, Renal tubular ac... ORPHA:358
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Impaired social interactions, Hyperlipidemia... ORPHA:293987
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Impaired social interactions, Hypercholesterolemia, Obesity, Poor eye contact, Precocious puberty... ORPHA:254531
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Decreased fertility, Obesity, Hypogonadism ORPHA:2233
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity, Foot dorsiflexor weakness OMIM:618124
Central Precocious Puberty
Hypothalamic hamartoma, Obesity, Isosexual precocious puberty, Overgrowth, Premature thelarche, I... ORPHA:759
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Di... ORPHA:300385
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Steinert Myotonic Dystrophy
Abnormality of masticatory muscle, Ovarian carcinoma, Impotence, Male hypogonadism, Diabetes mell... ORPHA:273
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decrea... OMIM:607616
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Proteinuria, Lipoatrophy, Glomerulopathy, Myopathy, Micros... ORPHA:79087
Fg Syndrome Type 1
Small pituitary gland, Progressive flexion contractures, Slender build, Cryptorchidism, Aplasia/H... ORPHA:93932
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency, Decreased serum testosterone concentration, Cerebral cortical atrophy, Distal am... OMIM:609195
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Hyperbilirubinemia, Biliary atresia, Acho... OMIM:615710
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Flexion contracture, Hyperinsulinemia, Loss of facial adipose tissue, Decreased a... OMIM:608612
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... ORPHA:199310
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hepatic steatosis, Hyperlipidemia, Recurrent pan... ORPHA:444490
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus, Hydronephrosis, Polydipsia, Polyuria OMIM:304900
47,Xyy Syndrome
Impaired social interactions, Varicocele, Azoospermia, Cryptorchidism, Increased serum testostero... ORPHA:8
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, C... OMIM:232400
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, F... OMIM:613845
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Arrhythmia, Elevated transferrin... OMIM:606069
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Aortic regurgitation, Hypercholesterolemia, Renovascular hypertension, Ty... ORPHA:401923
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Adrenal insufficiency, Hypoglycemic seizures, Decreased circulating dehydro... ORPHA:361
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Cog2-Cdg
Secondary microcephaly, Small pituitary gland, Diffuse cerebral atrophy, Hypoplasia of the corpus... ORPHA:435934
Hypergonadotropic Hypogonadism-Cataract Syndrome
Primary amenorrhea, Delayed puberty, Secondary growth hormone deficiency, Increased circulating g... ORPHA:2410
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Fanconi-Bickel Syndrome
Glycosuria, Generalized aminoaciduria, Renal tubular acidosis, Fasting hypoglycemia, Nephrocalcin... ORPHA:2088
Laron Syndrome
Hypoglycemia, Hypohidrosis, Hypercholesterolemia, Delayed puberty, Abnormality of the endocrine s... ORPHA:633
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Polydipsia, Adrenal hyperplasia, Secretory... ORPHA:403
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalciuria, Testicular neopla... ORPHA:99880
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Obesity, Hernia of the abdominal wall, Hypoplas... ORPHA:3055
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Polycystic ovaries, Goiter, Abnormal calcium-phosphate regulating hormone... ORPHA:457059
Cortisone Reductase Deficiency 1
Obesity, Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Necrotizing Enterocolitis
Hyponatremia, Peritonitis, Hypotension, Bradycardia, Hyperglycemia, Shock, Abnormal glucose homeo... ORPHA:391673
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Distal arthrogryposis, Anterior hypopituitarism, Arthrogryposis multiplex congenita, Camptodactyl... OMIM:208080
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Delayed puberty, Hypertrophic cardiomyopathy, Increased hepatic gly... ORPHA:369
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Polycystic ovaries, Hematuria, Proteinuria, Loss of truncal subcutaneous adip... OMIM:608709
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Atypical Werner Syndrome
Glycosuria, Chondrocalcinosis, Diabetes mellitus, Premature ovarian insufficiency, Abnormality of... ORPHA:79474
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Hypercalciuria, Glucocortocoid-insensitive primary hyperaldosteroni... ORPHA:251274
Renal Glucosuria
Glycosuria, Enuresis nocturna, Polyuria, Polyphagia, Polydipsia OMIM:233100
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Pituitary Adenoma 4, Acth-Secreting
Nephrolithiasis, Oligomenorrhea, Skeletal muscle atrophy, Obesity, Pituitary adenoma, Abdominal o... OMIM:219090
Diethylstilbestrol Syndrome
Epididymal cyst, Decreased fertility in females, Cryptorchidism, Micropenis, Abnormality of the u... ORPHA:1916
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Leprechaunism
Central hypothyroidism, Labial hypertrophy, Microcephaly, Postprandial hyperglycemia, Hyperaldost... ORPHA:508
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Micropenis, Obesity, Microcephaly, Delayed puberty, Hypoplasia of the prostate OMIM:301900
Wilson-Turner Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Testicular adrenal rest tumor, Decreased circulating renin level, Increas... ORPHA:90795
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating cortisol level, Obesity,... OMIM:600955
Short Syndrome
Lipodystrophy, Small for gestational age, Lipoatrophy, Insulin-resistant diabetes mellitus, Ingui... OMIM:269880
Werner Syndrome
Lipodystrophy, Renal neoplasm, Insulin resistance, Slender build, Skeletal muscle atrophy, Aplasi... ORPHA:902
Deeah Syndrome
Exocrine pancreatic insufficiency, Neonatal hypoglycemia, Hypohidrosis, Decreased body weight, An... OMIM:619004
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia, Iris coloboma OMIM:610202
Joubert Syndrome 26
Panhypopituitarism, Decreased response to growth hormone stimulation test, Micropenis, Central hy... OMIM:616784
48,Xxxy Syndrome
Infertility, Small scrotum, Abnormal social behavior, Azoospermia, Cryptorchidism, Obesity, Hypop... ORPHA:96263
Kallmann Syndrome
Renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogona... ORPHA:478
Erythrokeratodermia Variabilis
Abnormal testis morphology, Microcephaly, Weight loss, Diabetes mellitus ORPHA:317
Generalized Glucocorticoid Resistance Syndrome
Infertility, Hypoglycemia, Oligomenorrhea, Increased urinary cortisol level, Oligospermia, Decrea... ORPHA:786
Bardet-Biedl Syndrome
Nephrotic syndrome, Skeletal muscle atrophy, Cryptorchidism, Obesity, Hypoplasia of penis, Multic... ORPHA:110
Polyembryoma
Irregular menstruation, Increased serum testosterone level, Increased serum serotonin, Abnormal c... ORPHA:180229
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Retinal coloboma, Macular coloboma OMIM:107550
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing h... ORPHA:95699
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test OMIM:612781
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Renal tubular dysfunction, Moderate albuminuria, Pancreatic hypoplasia, Abnormality o... ORPHA:99885
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Nephrocalcinosis, Abnormal urine sodium concentration,... ORPHA:320
Mccune-Albright Syndrome
Irregular menstruation, Cholestasis, Abnormality of the thyroid gland, Ovarian cyst, Increased ci... ORPHA:562
D-Glyceric Aciduria
Hyperglycinemia, Increased circulating free fatty acid level, Nonketotic hyperglycinemia ORPHA:941
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Nephrolithiasis, Polydipsia, Hyperaldosteronism, Abnormal circulating renin ORPHA:369929
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Hyperlipidemia, Flexion contracture, Hyperinsulinemia, Increased facial adipose ti... OMIM:248370
Mpi-Cdg
Hypothyroidism, Portal hypertension, Gastrointestinal hemorrhage, Hepatomegaly, Hypoalbuminemia, ... ORPHA:79319
Pituitary Gigantism
Premature pubarche, Left ventricular hypertrophy, Amenorrhea, Increased serum insulin-like growth... ORPHA:99725
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Cryptorchidism, Hypoalbuminemia, Hypertrigly... OMIM:617575
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Obesity, Delayed puberty, Hypospadias, Hypogonadism ORPHA:141333
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Polycystic ovaries, D... ORPHA:370
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyce... OMIM:603552
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Diabetes insipidus, Dysuria, Hydronephrosis, Xanthelasma, Retroper... ORPHA:35687
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Amenorrhea, Adrenal overactivity OMIM:145295
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Pseudohypoparathyroidism, Enamel hypoplasia, Obesity, Basal ganglia calcification... OMIM:612462
Prolactinoma
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Decreased fertility ... ORPHA:2965
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Elevated cir... OMIM:613327
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Poor eye contact OMIM:613886
Endocardial Fibroelastosis
Cryptorchidism, Hypoglycemia, Anterior hypopituitarism, Hypoplasia of penis ORPHA:2022
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Hypercholesterolemia, Cryptorchidism, Obesity, Truncal obesity, Precoc... ORPHA:96184
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Horseshoe kidney, Insulin resistance, Small for gestational age, Cryptorchi... ORPHA:96182
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Cryptorchidism, Hypopituitarism, Micropenis, E... OMIM:615849
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Abnormal prostate morphology, Urinary retention, Recurrent hypoglycemi... ORPHA:2126
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypercalciuria, Polyuria, Decreased circulating renin level, Polydipsia, Hyp... OMIM:613677
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated plasma citrulline, Portal inflammation, Hyperargininemia, Hypertrigly... OMIM:603471
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Adrenocortical adenoma, Postprandial hyper... ORPHA:681
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Obesity, Congenital hypothyroidism, Diabetes mellitus, Hypospadias OMIM:614613
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, P... ORPHA:231720
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Weight loss, Hashimoto thyroiditis, Graves disease, Decreased circulating cortisol ... ORPHA:199299
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Obesity, Gonadoblastoma, Abnormality of the uterus, N... OMIM:194072
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatic steatosis, Portal hypertension, Hepatosplenomegaly, Periportal fib... OMIM:278000
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Cholestasis, Hypercholesterolemia, Polycys... ORPHA:264580
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Septo-optic dysplasia, Primary amenorrhea, Abnormality of the hypothalamus-pituit... ORPHA:95496
Ochoa Syndrome
Cryptorchidism, Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal i... ORPHA:2704
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Leukoencephalopathy With Vanishing White Matter
Primary gonadal insufficiency, Primary amenorrhea, Secondary amenorrhea, Cessation of head growth... OMIM:603896
Methanol Poisoning
Inflammatory arteriopathy, Hyperlipidemia, Permanent atrial fibrillation, Myocardial infarction, ... ORPHA:31825
East Syndrome
Increased circulating renin level, Lower limb muscle weakness, Renal magnesium wasting, Enuresis,...