Gene: Irs2 MGI:109334

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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
Type II diabetes mellitus, Insulin resistance 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
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertension, Sudden cardi... OMIM:610947
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertension, Hypertriglyceridemia, ... OMIM:615703
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Decreased t... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Decreased t... ORPHA:179494
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Increased... OMIM:232700
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71526
Premature Ovarian Failure 2A
Premature ovarian insufficiency OMIM:300511
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Impaired social interactions, Male hypogonadism, Increased circulating gonadotrop... ORPHA:163976
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Primary amenorrhea, Abnormal eating behavior, Decreased testi... OMIM:614962
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Reduced subcutaneous adipose ti... ORPHA:280356
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Impotence, Pituitary hypothyroidism,... ORPHA:251623
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Myocardial infarction, Hypertension OMIM:608320
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Palpitations, Hyperinsulinemic hypoglycemia, Hyperin... ORPHA:276575
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Leptin Receptor Deficiency
Polyphagia, Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyro... OMIM:614963
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Acute pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hype... OMIM:608600
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus, Hepatic steatosis, Hypertension OMIM:613877
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Lipodystrophy,... OMIM:604367
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Shyness, Hypergonado... ORPHA:163971
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
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
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hypertension, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Central hypothyroidism, Scrotal hypoplasia, Clitoral hypoplasia, Xerostomia, Type... ORPHA:398079
Autosomal Recessive Spastic Paraplegia Type 26
Pseudobulbar paralysis, Abnormality of the urinary system, Cerebral cortical atrophy, Decreased s... ORPHA:101006
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Atherosclerosis Susceptibility
Hypertriglyceridemia, Myocardial infarction, Decreased HDL cholesterol concentration OMIM:108725
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Glucose intolerance, Orthostatic hypotension, Insulin resistance, Impaired ... OMIM:606721
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Temple Syndrome
Cryptorchidism, Polyphagia, Obesity, Small for gestational age, Type II diabetes mellitus, Recurr... ORPHA:254516
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Eunuchoid habit... OMIM:308750
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Bilater... ORPHA:52901
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Eu... OMIM:308700
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hype... ORPHA:276556
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Post-Traumatic Pituitary Deficiency
Infertility, Panhypopituitarism, Decreased circulating ACTH level, Amenorrhea, Pituitary hypothyr... ORPHA:95619
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Decreased circulating ... ORPHA:90791
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Polycystic ovaries, Se... ORPHA:3085
Premature Ovarian Failure 5
Premature ovarian insufficiency OMIM:611548
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Macroglossia, Hypothyroidism, Abnormalit... ORPHA:99886
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis, Type II diabetes mellitus OMIM:246650
49,Xxxyy Syndrome
Ambiguous genitalia, Male hypogonadism, Increased circulating gonadotropin level, Micropenis, Abn... ORPHA:261534
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hypertension, Polycystic ovaries, Hepato... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplas... ORPHA:226307
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Cholestasis, Obes... OMIM:609734
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Polyphagia, Hypergonadotropic hypogonadism, Cystinuria, Facial palsy, Fail... OMIM:606407
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, Polyphagia, Hyperinsulinemia, No social interaction, Obesity ORPHA:329249
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Macroglossia, Hyperinsulinemia, Oligomenorrhea, Amenorrhea, Insu... ORPHA:528
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase conce... OMIM:610717
Prader-Willi Syndrome
Cryptorchidism, Central hypothyroidism, Scrotal hypoplasia, Decreased circulating gonadotropin co... ORPHA:739
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Neoplasm of the adrenal gland, Pitui... ORPHA:97279
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Oligomenorrhea, Hepatic... ORPHA:435660
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertri... OMIM:612526
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:98754
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Central hypothyroidism, Scrotal hypoplasia, Clitoral hypoplasia, Xerostomia, Type... ORPHA:398069
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Hyperostosis Frontalis Interna
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:98793
Meningioma
Enlarged pituitary gland, Lower limb muscle weakness, Pituitary hypothyroidism, Obesity, Neoplasm... ORPHA:2495
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:177901
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Reduced... OMIM:618723
Panhypophysitis
Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal size of pituitary glan... ORPHA:95513
49,Xyyyy Syndrome
Increased circulating gonadotropin level, Male hypogonadism, Azoospermia, Abnormality of the test... ORPHA:99330
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Camptodactyly, Increased female libido, Delayed puberty, Secon... ORPHA:432
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:615724
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegal... ORPHA:79237
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Atypical scarring of skin, Type II diabetes mellitu... ORPHA:791
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Oligomenorrhea, Hepatic... ORPHA:79085
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Cirrhosis, Decreased muscle mass, Amenorrhea, Erectile dysfunction, Hypothyroidism, ... ORPHA:465508
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614880
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Small hypothenar eminence, Delayed puberty, Aplasia of the ovary, Hypergonadotrop... ORPHA:2232
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Lack of facial subcutaneous fat, Hypergonadotropic hypogonadi... ORPHA:2959
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Hypoplasia of the uterus, Primary amenorrhea, Decrease... OMIM:614841
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Type 1 Diabetes Mellitus
Polyphagia, Polyuria, Diabetes mellitus, Hyperglycemia, Polydipsia OMIM:222100
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed puberty, Dorsocervi... OMIM:616033
Prader-Willi-Like Syndrome
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:398073
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Hypogonadotropic hypogonadism, Micropenis OMIM:612702
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypogl... ORPHA:71212
Mehmo Syndrome
Male hypogonadism, Hypoplasia of the corpus callosum, Hypoglycemia, Obesity, Delayed puberty, Sma... OMIM:300148
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Bardet-Biedl Syndrome 6
External genital hypoplasia, Renal cyst, Hypospadias, Diabetes mellitus, Obesity OMIM:605231
Lipodystrophy, Congenital Generalized, Type 2
Reduced intraabdominal adipose tissue, Clitoral hypertrophy, Decreased fertility in females, Cirr... OMIM:269700
Sheehan Syndrome
Pituitary hypothyroidism, Abnormal size of pituitary gland, Obesity, Adrenocorticotropin deficien... ORPHA:91355
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Adi... OMIM:246200
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circula... OMIM:615980
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Lipodystrophy, Congenital Generalized, Type 1
Reduced intraabdominal adipose tissue, Clitoral hypertrophy, Cirrhosis, Decreased fertility in fe... OMIM:608594
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Decreased serum testosterone concentration, Failure to thrive, Splenomegaly, Decrea... OMIM:201100
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity ORPHA:369873
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Secondary amenorrhea, Cirrhosis, Maternal diabetes, Insulin resistan... ORPHA:79083
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Skeletal muscle hypertrophy, Lipoatrophy, Lipo... ORPHA:2348
Premature Ovarian Failure 19
Premature ovarian insufficiency OMIM:619245
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia, Failure to thrive, Renal tubular dysfu... OMIM:606528
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Breast hypoplasi... ORPHA:785
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Micropenis, Obesity ORPHA:85274
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Hyposthenuria, Amenorrhe... ORPHA:95512
Bardet-Biedl Syndrome 9
Polyphagia, Irregular menstruation, Truncal obesity, Renal insufficiency, Hyperglycemia, Polydips... OMIM:615986
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Bardet-Biedl Syndrome 11
Hypogonadism, Abnormality of the kidney, Obesity OMIM:615988
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Macroglossia, Nephrocalcinosis, Long penis, Insulin resistance, Enlarged ov... ORPHA:769
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Bardet-Biedl Syndrome 12
Hypogonadism, Abnormality of the kidney, Obesity OMIM:615989
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, External genital hypoplasia, Obesity ORPHA:177910
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Exocrine pancreatic insufficiency... ORPHA:552
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Panhypopituitarism, Neonatal hypoglycemia, Hypothyroidism, Adrenal insuffi... OMIM:262600
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm OMIM:615723
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Weight loss, Type II diabetes mellitus, Insulin resistance, Abnorm... ORPHA:2298
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Marked muscular hypertrophy, Hepatic steatosis, Lipodystr... ORPHA:435651
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance, Hypoplasia of the uterus, Prim... OMIM:615363
Retinitis Pigmentosa 84
Macular atrophy, Rod-cone dystrophy, Macular coloboma OMIM:618220
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Hypogonadism, Abnormality of the kidney, Obesity OMIM:615987
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Tall stature, Hepatomegaly, Inguinal hernia, Nephroblastoma, Fe... ORPHA:2849
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Mandibuloacral Dysplasia
Hypercholesterolemia, Hyperinsulinemia, Glucose intolerance, Insulin resistance, Insulin-resistan... ORPHA:2457
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Prader-Willi Syndrome
Cryptorchidism, Scrotal hypoplasia, Failure to thrive in infancy, Clitoral hypoplasia, Delayed pu... OMIM:176270
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Neoplasm ... ORPHA:91351
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Hypohidrosis, Maternal diabetes, Agenesis of corpus callosum, Absent septum pellu... ORPHA:3157
Craniopharyngioma
Polyphagia, Abnormal hypothalamus morphology, Enlarged pituitary gland, Pituitary hypothyroidism,... ORPHA:54595
Bardet-Biedl Syndrome 22
Microcephaly, Hypogonadism, Obesity OMIM:617119
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Decreased testicular size, Micropenis, Hypoplasia of the fallop... ORPHA:3464
Schaaf-Yang Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Polyphagia, Camptodactyly, Flexion contractur... OMIM:615547
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Bardet-Biedl Syndrome 5
Hypogonadism, Micropenis, External genital hypoplasia, Obesity OMIM:615983
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Hypothyroidism, ST segment depression, Hypopituitarism, Hy... ORPHA:90065
Bardet-Biedl Syndrome 16
Renal insufficiency, External genital hypoplasia, Renal dysplasia, Renal cyst, Renal agenesis, Hy... OMIM:615993
Perrault Syndrome 4
Increased circulating gonadotropin level, Oligomenorrhea, Disproportionate tall stature, Hypoplas... OMIM:615300
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, H... OMIM:151660
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicular size, Dia... OMIM:610628
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Pelvic girdle muscle atrophy, Breast aplasia, Dec... ORPHA:3044
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Premature Ovarian Failure 2B
Premature ovarian insufficiency OMIM:300604
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Failure to thrive, Decreased testicular size, Hypogonadism, Prem... ORPHA:261483
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex characteristics, Primary am... ORPHA:2235
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Angina pectoris, Hepatic steatosis, Hypertension, Polycystic ovari... ORPHA:90970
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Hypoplasia of the f... OMIM:241080
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Aromatase Deficiency
Cryptorchidism, Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Ambiguous ... ORPHA:91
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Secondary amenorrhea, Increased facial adipose tissue, Proximal upper limb muscle hypertrophy, In... ORPHA:280365
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Abnormal circulating lipid co... ORPHA:79086
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypogo... OMIM:615381
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hypertension, Hepatomegaly, H... ORPHA:363400
Frasier Syndrome
Renal insufficiency, Increased circulating gonadotropin level, Ambiguous genitalia, male, Focal s... ORPHA:347
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Scrotal hypoplasia, Decreased fertility, Abnormality of the thyroid gland, Type II diabetes melli... ORPHA:2234
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Cystinosis
Renal insufficiency, Nephrogenic diabetes insipidus, Renal tubular dysfunction, Hypothyroidism, A... ORPHA:213
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertension, Hypertriglyceridemia, Myocardial infarction, Type II diabe... OMIM:618620
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Arrhythmia, Increased L... OMIM:616516
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Increased serum serotonin, Weight loss, Adrenocorticotropic hormone exce... ORPHA:100083
Oliver-Mcfarlane Syndrome
Cryptorchidism, Delayed puberty, Distal amyotrophy, Small for gestational age, Hypoplasia of peni... OMIM:275400
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimuation test OMIM:615925
Congenital Glaucoma
Retinal detachment ORPHA:98976
Mehmo Syndrome
Cryptorchidism, External genital hypoplasia, Hypoplasia of penis, Microcephaly, Diabetes mellitus... ORPHA:85282
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Polyphagia... ORPHA:251937
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Alstrom Syndrome
Renal insufficiency, Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Hypergonado... OMIM:203800
Non-Acquired Panhypopituitarism
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abse... ORPHA:90695
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Delayed puberty, Decreased circulating al... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Delayed puberty, Decreased circulating al... ORPHA:289548
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Insulin resistance OMIM:617885
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Cystinosis, Nephropathic
Hypohidrosis, Male hypogonadism, Failure to thrive in infancy, Delayed puberty, Cerebral calcific... OMIM:219800
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Temple Syndrome
Hypercholesterolemia, Cryptorchidism, Maturity-onset diabetes of the young, Hypertriglyceridemia,... OMIM:616222
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:614480
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Impaired growth-hormone response to insulin stimulation test, Decr... OMIM:618157
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of... ORPHA:243
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Polyphagia, Oligomenorrhea, Hypergonadotropic hypogonadism, Pseudohypoparathyr... ORPHA:79444
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
Wolfram Syndrome
Dysuria, Abnormality of mesentery morphology, Male hypogonadism, Polydipsia, Abnormality of the u... ORPHA:3463
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Arrhythmia, Dilated cardiomyopathy, Hypoketotic hypoglycemia, Vent... ORPHA:26793
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Aplasia of the uterus, Abnormal circulating fol... ORPHA:99429
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Abnormal... ORPHA:95613
Isolated Growth Hormone Deficiency, Type V
Abdominal obesity, Microcephaly, Truncal obesity, Decreased response to growth hormone stimuation... OMIM:618160
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Renal agenesis, Acute kidney injury, Horseshoe kidney, Hypothyroidism, Hepat... ORPHA:93111
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Luscan-Lumish Syndrome
Shyness, Polyphagia, Irregular menstruation, Polycystic ovaries, Overgrowth, Obesity OMIM:616831
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Whipple Disease
Insulin resistance, Erectile dysfunction, Hypothyroidism, Hepatomegaly, Cachexia, Splenomegaly, M... ORPHA:3452
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm OMIM:604370
Niemann-Pick Disease, Type B
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased LDL cholesterol concentration, Decrea... OMIM:607616
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Congenital Disorder Of Glycosylation, Type Iiq
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... OMIM:617395
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Splenomegaly, Adre... ORPHA:75234
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma OMIM:613399
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Wolfram-Like Syndrome
Male hypogonadism, Glucose intolerance, Hypothyroidism, Delayed puberty, Diabetes mellitus, Abnor... ORPHA:411590
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Female pseudohermaphroditism OMIM:613546
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Decreased ... ORPHA:293978
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Polyphagia... ORPHA:525731
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Hyperlipidemia, Glycosuria ORPHA:2089
Bardet-Biedl Syndrome 4
Cryptorchidism, External genital hypoplasia, Renal cyst, Hypogonadism, Abnormality of the kidney,... OMIM:615982
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Weight loss, Hyperhidrosis OMIM:275000
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Bardet-Biedl Syndrome 2
Hypogonadism, Diabetes mellitus, External genital hypoplasia, Obesity OMIM:615981
Coloboma Of Macula
Macular coloboma OMIM:120300
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Hepatomegaly, Type I diabetes mellitus, Failure to thrive, Diabet... OMIM:560000
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abse... ORPHA:95494
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Elevated... OMIM:617253
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Menometrorrhagia, Truncal obesity, Failure to thrive, Diabetes ... ORPHA:189427
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Enlarged kidney, Insulin-r... ORPHA:90301
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Abnormal circulating lipid concentration, Hepatic steatosis OMIM:615238
Glycerol Kinase Deficiency
Cryptorchidism, Adrenocortical hypoplasia, Hypoglycemia, Hypertriglyceridemia, Adrenal insufficiency OMIM:307030
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Angina pectoris, Hepatic steatosis, Hypothyroidism, Acute panc... ORPHA:412
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational age, Failure to thrive, ... ORPHA:73272
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Polyuria, Aminoaciduria, Hepatomegaly, Calcinosis, Hypercalciuria, Splenomegal... OMIM:239200
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Polycystic ovaries ORPHA:2229
Laurence-Moon Syndrome
Cryptorchidism, Congenital hepatic fibrosis, Type II diabetes mellitus, Hypoplasia of penis, Rena... ORPHA:2377
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Polydipsia, Weight loss ORPHA:30925
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Abnormal muscle fiber morphology, Camptodactyly of toe, Umbilical hernia, Inguina... OMIM:175700
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity OMIM:248100
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia, Palpitations ORPHA:488650
Parathyroid Carcinoma
Weight loss, Hypercalciuria, Renal hamartoma, Primary hyperparathyroidism, Elevated circulating p... ORPHA:143
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prol... OMIM:613027
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Inguinal hernia, Abnormality of male internal genitalia, Abnormal circu... OMIM:261550
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma OMIM:167000
Cushing Disease
Infertility, Lipodystrophy, Truncal obesity, Menorrhagia, Metrorrhagia, Nephrolithiasis, Failure ... ORPHA:96253
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Hematuria, Polycystic ovaries, Membranoprol... OMIM:608709
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Analbuminemia
Hypercholesterolemia, Hypotension, Elevated circulating transferrin concentration, Hypoalbuminemi... OMIM:616000
Central Diabetes Insipidus
Nocturia, Weight loss, Failure to thrive, Diabetes insipidus, Polydipsia ORPHA:178029
Bardet-Biedl Syndrome 19
Renal insufficiency, Hypogonadism, External genital hypoplasia, Obesity OMIM:615996
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Reduced subcutaneous adipose tissue, Hype... OMIM:609069
Huntington Disease
Choking episodes, Decreased body mass index, Polyphagia, Abnormal cerebral white matter morpholog... ORPHA:399
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst ORPHA:397685
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Polyphagia, Oligomenorrhea, Hypergonadotropic hypogonadism, Pseudohypoparathyr... ORPHA:79443
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Hepatic Lipase Deficiency
Angina pectoris, Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver dis... OMIM:616828
Gitelman Syndrome
Primary hyperaldosteronism, Nocturia, Delayed puberty, Cerebral calcification, Type II diabetes m... ORPHA:358
Silver-Russell Syndrome
Cryptorchidism, Decreased muscle mass, Abnormal vagina morphology, Insulin resistance, Premature ... ORPHA:813
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Hypopla... ORPHA:247768
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:300385
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lipoatrophy, Glomerulopathy, Microscopic hematuria, Myopat... ORPHA:79087
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
48,Xxyy Syndrome
Infertility, Cryptorchidism, Abnormal dental enamel morphology, Azoospermia, Hypergonadotropic hy... ORPHA:10
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypohidrosis, Impaired social interactions, Polyphagia, Premature adrenarche, Polydipsia, Central... ORPHA:293987
Lcat Deficiency
Hepatomegaly, Hypertriglyceridemia, Hypertension, Splenomegaly ORPHA:650
Steinert Myotonic Dystrophy
Hypercholesterolemia, Male hypogonadism, Pelvic girdle muscle weakness, Shoulder girdle muscle we... ORPHA:273
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Overgrowth, Isosexual precociou... ORPHA:759
47,Xyy Syndrome
Cryptorchidism, Impaired social interactions, Increased circulating gonadotropin level, Azoosperm... ORPHA:8
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Impaired social interactions, Poor ey... ORPHA:254531
Spastic Paraplegia 26, Autosomal Recessive
Cerebral cortical atrophy, Decreased serum testosterone concentration, Distal amyotrophy, Urinary... OMIM:609195
Diabetes Insipidus, Neurohypophyseal Type
Polydipsia, Central diabetes insipidus, Polyuria, Hydronephrosis OMIM:304900
Ovarian Fibrothecoma
Peritonitis, Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calc... ORPHA:314478
Fg Syndrome Type 1
Slender build, Cryptorchidism, Progressive flexion contractures, Aplasia/Hypoplasia of the corpus... ORPHA:93932
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Renal salt wasting, Type 2 muscle fiber atrophy, Chronic kidney disease, Failure to thr... OMIM:613845
Werner Syndrome
Slender build, Renal neoplasm, Ovarian neoplasm, Insulin resistance, Abnormal testis morphology, ... ORPHA:902
Mitchell-Riley Syndrome
Hyperglycemia, Annular pancreas, Biliary atresia, Hyperbilirubinemia, Cholestasis, Pancreatic hyp... OMIM:615710
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Decreased fertility, Abnormal testis morphology, Obesity ORPHA:2233
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Aortic regurgitation, Renovascular hypertension, Type II diabetes mellitus,... ORPHA:401923
Familial Chylomicronemia Syndrome
Hepatic steatosis, Acute pancreatitis, Increased circulating chylomicron concentration, Hypertrig... ORPHA:444490
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Foot dorsiflexor weakness, Premature ovarian insufficiency, Obesity OMIM:618124
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Nephrocalcinosis, Hyperphosphaturia, Generalized aminoaciduria, Postprandia... ORPHA:2088
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Glycogen Storage Disease Iii
Hypoglycemia, Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration,... OMIM:232400
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration... ORPHA:361
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH... OMIM:300888
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Cli... OMIM:612964
Laron Syndrome
Hypercholesterolemia, Hypohidrosis, Hypoglycemia, Delayed puberty, Abnormality of the endocrine s... ORPHA:633
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... ORPHA:403
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Nephrocalcinosis, Chondrocalcinosis, Dysphagia, Uterine leiomyoma, Nephrolit... ORPHA:99880
Cog2-Cdg
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... ORPHA:435934
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating hormone level, ... ORPHA:457059
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Camptodactyly of finger, Arthrogryposis multiplex congenita, Distal arthrogryposis, Anterior hypo... OMIM:208080
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Premature Ovarian Failure 17
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619146
Cortisone Reductase Deficiency 1
Obesity, Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Hypoglycemia, Hepatomega... ORPHA:369
Renal Glucosuria
Polyphagia, Polyuria, Glycosuria, Enuresis nocturna, Polydipsia OMIM:233100
Necrotizing Enterocolitis
Peritonitis, Hypotension, Hyponatremia, Shock, Hyperglycemia, Bradycardia, Abnormal glucose homeo... ORPHA:391673
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Hypercalciuria... ORPHA:251274
Deeah Syndrome
Panhypopituitarism, Cryptorchidism, Hypohidrosis, Neonatal hypoglycemia, Exocrine pancreatic insu... OMIM:619004
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Clitoral hyper... ORPHA:90795
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Primary amenorrhea, Hypogonadotropic hypogonadism, Reactive... OMIM:600955
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Oligomenorrhea, Impaired glucose tolerance, Obesity, Increased circulating A... OMIM:219090
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Short Syndrome
Glucose intolerance, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Inguinal he... OMIM:269880
Generalized Glucocorticoid Resistance Syndrome
Infertility, Increased urinary cortisol level, Ambiguous genitalia, Increased circulating cortiso... ORPHA:786
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Truncal obesity ORPHA:3459
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Obesity, Hypoplasia of penis, Hernia of the abdominal wall, Aplasia/Hypoplasia of... ORPHA:3055
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Leprechaunism
Central hypothyroidism, Hypercalciuria, Skeletal muscle atrophy, Clitoral hypertrophy, Insulin re... ORPHA:508
Apparent Mineralocorticoid Excess
Renal insufficiency, Nephrocalcinosis, Abnormality of circulating cortisol level, Decreased circu... ORPHA:320
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Arrhythmia, Glucose intolerance, Impaired glucose t... OMIM:606069
Perrault Syndrome 6
Premature ovarian insufficiency, Hypoplasia of the uterus, Streak ovary OMIM:617565
Kallmann Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Renal agenesis, Breast hypoplas... ORPHA:478
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Cataract 21, Multiple Types
Macular hypoplasia, Iris coloboma, Retinal detachment OMIM:610202
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Flexion contracture, Increased adipose tissue aroun... OMIM:248370
Polyembryoma
Abnormality of the endocrine system, Irregular menstruation, Abnormality of the peritoneum, Macro... ORPHA:180229
Pituitary Gigantism
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Elevated cir... ORPHA:99725
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Delayed puberty, Hypoplasia of the prostate, Microcephaly, Micropenis, Obesity OMIM:301900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Joubert Syndrome 26
Panhypopituitarism, Central hypothyroidism, Micropenis, Decreased response to growth hormone stim... OMIM:616784
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Cirrhosis, Increased hepatic echogenicity, Hepatic steatosis, Portal hypert... OMIM:278000
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Polycystic ovaries, Type I diabetes ... ORPHA:275555
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimuation test OMIM:612781
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Ovarian Fibroma
Ovarian fibroma, Abnormality of the ovary, Gonadal calcification ORPHA:314473
48,Xxxy Syndrome
Infertility, Cryptorchidism, Abnormal dental enamel morphology, Azoospermia, Abnormal social beha... ORPHA:96263
Erythrokeratodermia Variabilis
Microcephaly, Diabetes mellitus, Weight loss, Abnormal testis morphology ORPHA:317
Mccune-Albright Syndrome
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... ORPHA:562
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism, Obesity OMIM:264120
Biemond Syndrome Type 2
Delayed puberty, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Obesity ORPHA:141333
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Renal tubular dysfunction, Contractures of the joints of the ... ORPHA:99885
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Jaundice, Splen... OMIM:603552
Bardet-Biedl Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hepatic fibrosis, Nephrotic syndrome, Skeletal musc... ORPHA:110
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia, Polydipsia, Nephrolithiasis ORPHA:369929
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Muscular dystrophy, Flexion contracture,... OMIM:613327
Nephrotic Syndrome, Type 14
Cryptorchidism, Hypothyroidism, Hypoglycemia, Hypertriglyceridemia, Adrenal insufficiency, Hypoal... OMIM:617575
Atypical Werner Syndrome
Ovarian neoplasm, Decreased fertility, Delayed puberty, Secondary amenorrhea, Type II diabetes me... ORPHA:79474
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Hepatocellular adenoma, Hepatocellular car... ORPHA:370
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche, Amenorrhea OMIM:145295
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Facial palsy, Macular coloboma OMIM:107550
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hepa... OMIM:207750
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Low urinary cyclic AMP response to P... OMIM:612462
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hyperaldosteronism, Hypercalciuria, Decreased circulating renin level, Adrenal hyperpla... OMIM:613677
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
Obesity, Hyperphagia, And Developmental Delay
Poor eye contact, Polyphagia, Obesity OMIM:613886
Erdheim-Chester Disease
Dysuria, Xanthelasma, Renal insufficiency, Weight loss, Hyperhidrosis, Hydronephrosis, Hypogonado... ORPHA:35687
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Culler-Jones Syndrome
Cryptorchidism, Hypopituitarism, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Diab... OMIM:615849
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Cryptorchidism, Decreased muscle mass, Horseshoe kidney, Oral aversion, Ins... ORPHA:96182
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Maturity-onset diabetes of the young, Hypercholesterolemia, Truncal obesity, Smal... ORPHA:96184
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Renal insufficiency, Abnormality of the uterus, Abnormal vagina morphology, Gonad... OMIM:194072
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Mildly elevated creatine kinase, Adrenocortical adenoma, Episodic hyp... ORPHA:681
Primary Parathyroid Hyperplasia
Parathyroid hyperplasia, Nephrocalcinosis, Chondrocalcinosis, Dysphagia, Hypercalciuria, Primary ... ORPHA:99878
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia, Pancreatitis, Hyperammonemia OMIM:603471
East Syndrome
Lower limb muscle weakness, Enuresis, Hyperaldosteronism, Increased circulating renin level, Rena... ORPHA:199343
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Abnormality of the peritoneum, Weight loss, Hypoglycemia, Hypoinsulinemia, Neopl... ORPHA:2126
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:262710
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Obesity ORPHA:2183
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Hepatocellular adenoma, Hepatic steatosis,... ORPHA:264580
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity, Micropenis OMIM:610156
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Congenital hypothyroidism, Hypospadias, Diabetes mellitus, Obesity OMIM:614613
Septooptic Dysplasia
Absent septum pellucidum, Anterior pituitary hypoplasia, Diabetes insipidus, Agenesis of corpus c... OMIM:182230
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Primary amenorrh... ORPHA:95496
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Biliary tract abnormality, Hepatic fibr... OMIM:209900
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Impotence, Hypopituitarism, Pituitary hypothyroidism, Adrenocorticotropic hormone... ORPHA:91354
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Low urinary cyclic AMP response to P... OMIM:103580
Bardet-Biedl Syndrome 7
External genital hypoplasia, Obesity OMIM:615984
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Congenital hepatic... ORPHA:79230
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Ochoa Syndrome
Cryptorchidism, Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, V... ORPHA:2704
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Peripheral vitreoretinal degeneration, Retinal detachment OMIM:614292
Pituitary Hormone Deficiency, Combined, 3
Anterior pituitary hypoplasia, Decreased response to growth hormone stimuation test, Anterior hyp... OMIM:221750
Propionic Acidemia
Arrhythmia, Hypoglycemia, Hepatomegaly, Hyperammonemia, Cardiomyopathy ORPHA:35
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Orthostatic hypotension, Ele... ORPHA:230
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circulating free ... ORPHA:99832
Addison Disease
Weight loss, Delayed puberty, Decreased circulating aldosterone level, Primary adrenal insufficie... ORPHA:85138
Microspherophakia With Hernia
Superior lens subluxation, Retinal detachment OMIM:157150
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Failure to thrive OMIM:602579
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimuation test OMIM:173100
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Polyphagia, Failure to thrive, Cystinuria ORPHA:163690
Gitelman Syndrome
Chondrocalcinosis, Hypocalciuria, Nocturia, Renal potassium wasting, Rhabdomyolysis, Polyuria, In... OMIM:263800
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:300123
Leukoencephalopathy With Vanishing White Matter
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Decreased circulating ... OMIM:603896
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Macroglossia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter m... OMIM:300354
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Bonnemann-Meinecke-Reich Syndrome
Microcephaly, Cerebral calcification, Decreased response to growth hormone stimuation test ORPHA:1261
Perrault