Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
multiple endocrine neoplasia 1
Synonyms:
menin

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 Men1 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 predicted to be associated to Men1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... ORPHA:145
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... ORPHA:157798
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Carcinoid tumor, Neurofibromas, Pheochromocytoma, Jaundice OMIM:162240
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Paragangliomas 7
Pheochromocytoma, Paraganglioma OMIM:618475
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Ovarian Cancer
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma OMIM:167000
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas
Cutaneous angiolipomas, Chemodectoma, Retroperitoneal chemodectomas OMIM:118350
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach, Abnormal hai... ORPHA:618
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Nephroblastoma, Thyroid nodule, Embryonal rhabdomyosarcoma, Ovarian the... OMIM:180295
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas, Glucagonoma, Increas... ORPHA:438274
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Carney Complex, Type 1
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Hirsutis... OMIM:160980
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma, Neoplasm of the gastrointestinal tract OMIM:606864
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Squamous cell carcino... ORPHA:50944
Schwannomatosis 1
Schwannoma, Spinal cord tumor, Meningioma OMIM:162091
Hyperparathyroidism 2 With Jaw Tumors
Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal c... OMIM:145001
Subependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251639
Ependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251636
Schwannomatosis 2
Schwannoma, Spinal cord tumor OMIM:615670
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous ... ORPHA:83469
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Ovarian cyst, Duodenal a... ORPHA:454840
Carcinoid Tumors, Intestinal
Intestinal carcinoid OMIM:114900
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Neoplasm of the lung,... ORPHA:1332
Infantile Myofibromatosis
Neoplasm of the pancreas, Abnormal hair morphology, Tracheoesophageal fistula, Neoplasm of the lu... ORPHA:2591
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Paragangliomas 5
Paraganglioma OMIM:614165
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Hirsutism, Gonadal dysgenesis with fe... ORPHA:206484
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea... OMIM:158320
Multiple Endocrine Neoplasia, Type Iia
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Pheochrom... OMIM:171400
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Neoplasm, Generalized hirsutism, Ovarian neoplasm, Macroglossia, Hyp... ORPHA:2221
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Thyroid Cancer, Nonmedullary, 1
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma OMIM:188550
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Gonadoblastoma, Decreased testicular... OMIM:616425
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyroid gland,... ORPHA:137608
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274700
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Decreased serum e... OMIM:615723
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Pancreatic adenocarcinoma, Ga... ORPHA:2869
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Paragangliomas 1
Glomus jugular tumor, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Vagal parag... OMIM:168000
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Lynch Syndrome
Neoplasm of the rectum, Neoplasm of the pancreas, Pituitary adenoma, Malabsorption, Ovarian neopl... ORPHA:144
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hypoglycem... ORPHA:293964
Paragangliomas 3
Glomus jugular tumor, Neoplasm, Extraadrenal pheochromocytoma, Elevated circulating catecholamine... OMIM:605373
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Adrenocortical adenoma, Neuroendocrine neoplasm, ... ORPHA:276152
Familial Colorectal Cancer Type X
Neoplasm of the rectum, Neoplasm of the colon, Neoplasm of the pancreas, Pituitary adenoma, Neuro... ORPHA:440437
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... ORPHA:79501
Thyroid Cancer, Nonmedullary, 4
Goiter, Non-medullary thyroid carcinoma OMIM:616534
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... ORPHA:103918
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma OMIM:614337
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... ORPHA:300385
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Precocious puberty, Ovarian neoplasm, Peripheral primitive neuroectoder... ORPHA:370348
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Intestinal bleeding, Uterine neoplasm, Multiple gastric polyps, Breast ... OMIM:175200
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Breast carcinoma, Renal cortical adenoma, Papillary thyroid carcinoma, Papillary renal cell carci... ORPHA:97290
Familial Pancreatic Carcinoma
Neoplasm of the liver, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Breast carcin... ORPHA:1333
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Paragangliomas 4
Glomus jugular tumor, Neoplasm, Neuroblastoma, Gastrointestinal stroma tumor, Paraganglioma of he... OMIM:115310
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... ORPHA:733
Hyperthyroidism, Nonautoimmune
Goiter, Thyroid hyperplasia, Hyperthyroidism OMIM:609152
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone OMIM:188570
Fanconi Anemia, Complementation Group S
Low anterior hairline, Ovarian neoplasm, Sparse hair, Breast carcinoma, Narrow palate, Long eyela... OMIM:617883
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary thyroid carcinoma, Papillary renal cell carcinoma, Follicular thyroid carcinoma, Colon ... ORPHA:319487
Cowden Syndrome 1
Hydrocele testis, High palate, Thyroiditis, Breast carcinoma, Fibroadenoma of the breast, Ovarian... OMIM:158350
Ppoma
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ... ORPHA:97278
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Elevated circulating parathyroid hormone level, Hyper... OMIM:612089
Hyperparathyroidism 4
Primary hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma OMIM:617343
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis OMIM:261650
Grfoma
Cholelithiasis, Hepatomegaly, Adrenocortical adenoma, Intestinal carcinoid, Neoplasm of the small... ORPHA:97261
Carney Complex
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Increased circulating insulin-like... ORPHA:1359
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Vipoma
Hepatomegaly, Benign gastrointestinal tract tumors, Adrenocortical adenoma, Increased circulating... ORPHA:97282
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Parathyroid Carcinoma
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma OMIM:608266
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter OMIM:228355
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Endolymphatic sac tumor, Papillary cystadenoma of the epididymis, Papil... ORPHA:892
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma, Multinodular goiter, Nail dystrophy, Alopecia OMIM:618373
Somatostatinoma
Medullary thyroid carcinoma, Hepatomegaly, Steatorrhea, Adrenocortical adenoma, Neoplasm of the s... ORPHA:97283
Lhermitte-Duclos Disease
Ovarian neoplasm, Macroglossia, Fibroadenoma of the breast, Trichilemmoma, Neoplasm of the thyroi... ORPHA:65285
Intellectual Developmental Disorder, X-Linked 2
High palate, Macroorchidism OMIM:300428
Cowden Syndrome 7
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... OMIM:616858
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Ovarian Fibroma
Mesenteric cyst, Odontogenic keratocysts of the jaw, Peritonitis, Gonadal calcification, Basal ce... ORPHA:314473
46,Xy Sex Reversal 6
Chordee, Sex reversal, Hirsutism, Sparse axillary hair, Hypospadias, Clitoral hypertrophy, Dysger... OMIM:613762
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... ORPHA:97289
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Polycystic o... ORPHA:79084
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Parathyroid hyperplasia, Hypercalcemia, Hyperphos... OMIM:617994
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Familial Gestational Hyperthyroidism
Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goi... ORPHA:99819
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goi... ORPHA:424
Chylous Ascites
Neoplasm, Pancreatitis, Abnormal intestine morphology ORPHA:1160
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... ORPHA:52901
Multiple Endocrine Neoplasia Type 2
Medullary thyroid carcinoma, Neuroma, Neoplasm of the liver, Aganglionic megacolon, Parathyroid a... ORPHA:653
Campomelia, Cumming Type
Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts OMIM:211890
Werner Syndrome
Ovarian neoplasm, Neoplasm of the small intestine, Neoplasm of the oral cavity, Hypogonadism, Whi... ORPHA:902
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Thyroid Hormone Metabolism, Abnormal, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Decreased circula... OMIM:609698
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Neoplasm, Decreased serum testosterone concentration, Micropenis, Hyper... ORPHA:2959
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... OMIM:131100
X-Linked Acrogigantism
Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro... ORPHA:300373
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Panhypopituitarism, Oligospermia, Anterior hypopituitarism, Increased c... ORPHA:91351
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Parathyroid adenoma, Elevated circulating parathyroid hormone level, Primary hy... ORPHA:99879
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Hirsutism, Increased serum testosterone level, Fibrosarcoma, Abnormal end... ORPHA:314478
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Breast carcinoma, Decreased circulating cortisol level, Mal... ORPHA:90790
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... ORPHA:251510
Multiple Endocrine Neoplasia Type 1
Pituitary growth hormone cell adenoma, Thymoma, Increased serum serotonin, Intestinal carcinoid, ... ORPHA:652
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Abnormal hair quantity, ... ORPHA:457059
Campomelia, Cumming Type
Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Multiple renal cysts, Abnormality of th... ORPHA:1318
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Ovarian neoplasm, Renal cortical adenoma, Glucocortocoid-insen... ORPHA:231632
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... ORPHA:71505
Functioning Gonadotropic Adenoma
Increased serum testosterone level, Adrenocorticotropic hormone deficiency, Abnormal prolactin le... ORPHA:91348
Cowden Syndrome 6
Hydrocele testis, High palate, Thyroiditis, Breast carcinoma, Fibroadenoma of the breast, Ovarian... OMIM:615109
Glucagonoma
Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone concentration, H... ORPHA:97280
Nephropathy, Deafness, And Hyperparathyroidism
Hyperparathyroidism, Parathyroid hyperplasia OMIM:256120
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hyperhidrosis OMIM:171420
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cleft palate, Small pituitary gland, Micropenis, Decreased testicular size, Cryptorchidism OMIM:614880
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... OMIM:203330
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic cysts, Renal cyst, Polycystic kidney dys... OMIM:263200
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Multiple Endocrine Neoplasia, Type Iib
High palate, Medullary thyroid carcinoma, High, narrow palate, Pheochromocytoma, Colonic divertic... OMIM:162300
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Adrenocortical adenoma, Neuroendocrine neoplasm, Elevated ... ORPHA:913
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Blepharochalasis And Double Lip
Goiter OMIM:109900
Pten Hamartoma Tumor Syndrome
Papilloma, Neoplasm, Lipoma, Thyroid carcinoma, Breast carcinoma, Hemangioma, Endometrial carcino... ORPHA:306498
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Cowden Syndrome
High palate, Furrowed tongue, Enlarged polycystic ovaries, Meningioma, Neoplasm of the thyroid gl... ORPHA:201
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Paragangliomas 2
Glomus jugular tumor, Neoplasm, Glomus tympanicum paraganglioma, Vagal paraganglioma, Chemodectoma OMIM:601650
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Pancreatitis, Parathyroid a... ORPHA:99880
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome OMIM:201910
Pseudohypoparathyroidism Type 2
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hyperphosphate... ORPHA:94090
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Mccune-Albright Syndrome
Pancreatitis, Abnormal endocrine physiology, Benign gastrointestinal tract tumors, Ovarian cyst, ... ORPHA:562
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Parathyroid Carcinoma
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Pancreatitis, Hypophosphate... ORPHA:143
Acth-Independent Macronodular Adrenal Hyperplasia
Neoplasm, Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Ma... OMIM:219080
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocorticotropic hormone deficiency, Paradoxical increased cortisol secre... ORPHA:1501
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Adrenal o... ORPHA:139411
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Compensated hypothyroidism, E... OMIM:274300
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Abnormal hair morphology, Macroorchidism ORPHA:3000
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Nephronophthisis 13
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:614377
Myxedema
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Goiter OMIM:255900
Primary Pigmented Nodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Hi... ORPHA:189439
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Adrenogenital syndrome OMIM:202110
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Abnormal hypo... ORPHA:54595
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Intestinal malrotation, Pancreatic fibrosis, Cirrhosis, Hyperechogeni... OMIM:208540
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Msh3-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... ORPHA:480536
Rhabdoid Tumor
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Hypercalcemia, Sar... ORPHA:69077
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... OMIM:610755
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Adrenocorticotropic hormone excess, Ovarian neoplasm, Hepatomegaly, In... ORPHA:100079
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Hepatomegaly, Hemangiomatosis, Hypercalcemia, Visceral angiomatosis ORPHA:2123
Meningioma
Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hypothalamus ... ORPHA:2495
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Goiter, Graves disease, Increased circulating free T3 OMIM:275000
Granulomatous Slack Skin
Hodgkin lymphoma, Hypercalcemia, Lymphoma ORPHA:33111
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Cowden Syndrome 5
Hydrocele testis, High palate, Thyroiditis, Breast carcinoma, Hyperthyroidism, Ovarian cyst, Hypo... OMIM:615108
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Hiatus hernia, Splenomegaly, Congenital hypothyroidism, Cholestasis, Pancreatic hyp... OMIM:610199
Senior-Loken Syndrome 8
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:616307
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimu... ORPHA:90793
Denys-Drash Syndrome
Ovarian gonadoblastoma, Ambiguous genitalia, female, Ambiguous genitalia, male, Male pseudohermap... OMIM:194080
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young, Hepatocellular adenoma OMIM:142330
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Bazex Syndrome
Lung adenocarcinoma, Neoplasm, Liposarcoma ORPHA:166113
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
High palate, Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612702
Legius Syndrome
Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmoid tumors, Nephro... ORPHA:137605
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Graves disease, Euthyroid goiter, Pancreatic fi... ORPHA:64744
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Adrenal hypoplasi... OMIM:614732
Thyroid Lymphoma
Hyperthyroidism, Lymphoma, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... ORPHA:91350
Dyskeratosis Congenita
Hepatomegaly, Sparse hair, Alopecia, Tracheoesophageal fistula, Abnormal testis morphology, Malab... ORPHA:1775
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Partington Syndrome
Macroorchidism ORPHA:94083
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Cryptorchidism, Hepatomegaly, High, narrow palate... ORPHA:2849
17Q11.2 Microduplication Syndrome
Sparse eyebrow, Sparse eyelashes, Macroorchidism ORPHA:139474
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Neoplasm of the lung, Malignant neoplasm... ORPHA:142
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... ORPHA:100083
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Hypercalcemia ORPHA:2668
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Polycystic Ovary Syndrome 1
Hirsutism, Enlarged polycystic ovaries OMIM:184700
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Goiter, Hyperthyroidism OMIM:613239
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Pheochromocytoma
Hemangioma, Neoplasm, Pheochromocytoma, Hyperhidrosis OMIM:171300
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema OMIM:618913
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... OMIM:603233
Cowden-Like syndrome
Papillary thyroid carcinoma, Uterine leiomyoma, Endometrial carcinoma, Breast carcinoma OMIM:612359
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cranial nerve compression, Paraganglioma of head and neck, Paraganglioma, Extraadrenal pheochromo... ORPHA:276621
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Mahvash Disease
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... OMIM:619290
Megalencephaly
Long penis, Macroorchidism ORPHA:2477
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:95716
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Meckel Syndrome, Type 7
Hepatosplenomegaly, Multicystic kidney dysplasia, Cholestasis, Patent ductus arteriosus, Portal h... OMIM:267010
Ascher Syndrome
High palate, Goiter, Hypothyroidism ORPHA:1253
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hyperphosphatemia, Parathyroid agene... ORPHA:2239
Tuberous Sclerosis Complex
Cortical tubers, Hepatic cysts, Retinal astrocytic hamartoma, Retinal hamartoma, Ungual fibroma, ... ORPHA:805
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency OMIM:210740
Neurofibromatosis, Type I
Optic nerve glioma, Plexiform neurofibroma, Parathyroid adenoma, Pheochromocytoma, Rhabdomyosarco... OMIM:162200
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:94086
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Glioma Susceptibility 9
Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma OMIM:616568
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Cranial nerve compression, Paraganglioma of head and neck, Episodic hy... ORPHA:29072
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Hirsutism, Elevated circulating growth hormone concentration, Enlarged kidney, Insulin-resistant ... ORPHA:90301
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Jau... ORPHA:65682
Permanent Congenital Hypothyroidism
Thyroid dysgenesis, Goiter, Jaundice, Hypothyroidism ORPHA:226292
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Hypocalciuric Hypercalcemia, Familial, Type I
Pancreatitis, Parathyroid adenoma, Hypercalcemia, Hypermagnesemia, Hyperparathyroidism OMIM:145980
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Pleural effu... OMIM:167800
Tsh-Secreting Pituitary Adenoma
Central adrenal insufficiency, Increased circulating prolactin concentration, Euthyroid hyperthyr... ORPHA:91347
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased circulating cortisol level, Increased circulating renin le... ORPHA:90791
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma, Carcinoma OMIM:603641
Nephronophthisis-Like Nephropathy 1
Chronic pancreatitis, Renal corticomedullary cysts, Pancreatic cysts OMIM:613159
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate... OMIM:146200
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Polycystic liver disease, Hepatic cysts, Renal cyst, Pyelo... ORPHA:730
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Goiter, Thyroid carcinoma ORPHA:705
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hirsutism, Increased circulating cortisol level, Alopecia, Adrenal hyperplasia, Primary hypercort... OMIM:615830
Growth Hormone Deficiency, Isolated Partial
Decreased response to growth hormone stimulation test, Small pituitary gland OMIM:615925
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Cleft palate, Congenital adrenal hyperplasi... ORPHA:96181
Glycogen Storage Disease Vi
Hypoglycemia, Increased hepatic glycogen content, Hepatomegaly OMIM:232700
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Non-Functioning Pituitary Adenoma
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... ORPHA:91349
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Secondary hyperparathyroidism, Abnormality of the parathyroid gland, Abnormal circulating calcium... ORPHA:140286
Xp22.13P22.2 Duplication Syndrome
High palate, Sparse hair, Polycystic ovaries, High anterior hairline, Macroorchidism ORPHA:284180
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Crouzon Syndrome
Dysgerminoma OMIM:123500
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia OMIM:239199
Kaposiform Lymphangiomatosis
Papilloma, Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Multiple r... ORPHA:464329
Pituicytoma
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... ORPHA:251623
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Intellectual Developmental Disorder, X-Linked 21
Synophrys, Macroorchidism OMIM:300143
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Hodgkin lymphoma, Multiple myeloma, Hirsutism, Hyperinsulinem... ORPHA:2298
Alveolar Echinococcosis
Pulmonary cyst, Abnormal spleen morphology, Hepatic cysts, Liver abscess, Renal cyst, Abnormality... ORPHA:284
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Macroorchidism OMIM:300602
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Progressive Familial Intrahepatic Cholestasis
Neoplasm, Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276580
Small Cell Carcinoma Of The Bladder
Bladder neoplasm, Hypercalcemia ORPHA:284400
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating free T3, Ab... ORPHA:171706
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Renal neopla... ORPHA:587
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Rabson-Mendenhall Syndrome
High palate, Increased serum testosterone level, Hypertrichosis, Precocious puberty, Hirsutism, L... ORPHA:769
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... ORPHA:523
Congenital Pancreatic Cyst
Pancreatitis, Jaundice ORPHA:313906
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276575
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Macroorchidism OMIM:300431
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Leydig Cell Hypoplasia
Decreased serum testosterone concentration, Cryptorchidism, Abnormal external genitalia, Abnormal... ORPHA:755
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Macroglossia, Congenital hypothyroidism, Elevated circula... ORPHA:226313
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Apert Syndrome
Ectopic anus, Narrow palate, Ovarian neoplasm, Cleft palate, Bifid uvula, Esophageal atresia ORPHA:87
Estrogen Resistance Syndrome
Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development, Absence of secondary... ORPHA:785
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus... ORPHA:280356
Lujan-Fryns Syndrome
High palate, Macroorchidism ORPHA:776
Basal Cell Nevus Syndrome
Medulloblastoma, Cleft palate, Odontogenic keratocysts of the jaw, Rhabdomyoma, Basal cell carcin... OMIM:109400
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Hypocalciuric Hypercalcemia, Familial, Type Ii
Pancreatitis, Primary hyperparathyroidism, Multiple lipomas, Hypercalcemia, Hypermagnesemia OMIM:145981
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Nephritis, Polycystic liver disease, Pancreatic fibrosis, Renal cyst, Pulmonary hypoplasia, Hepat... OMIM:208500
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Hi... ORPHA:189427
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Adrenal hyper... OMIM:201810
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Left ventricular hypertrophy, Abnormal circulating renin, Glucocortocoid-ins... ORPHA:251274
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Opsoclonus-Myoclonus Syndrome
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... ORPHA:1183
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Abnormal circulating insulin concentratio... ORPHA:552
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Pleural thickening, Subpleural honeycombing,... ORPHA:2302
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Esophageal varix, Fat malabsorption, Pulmonary h... ORPHA:731
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Maturity-onset diabetes of the you... ORPHA:324575
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... OMIM:275200
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... OMIM:300888
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:226316
Orofaciodigital Syndrome I
Myelomeningocele, High palate, Cleft palate, Hypothalamic hamartoma, Ovarian cyst, Bifid tongue, ... OMIM:311200
Oncogenic Osteomalacia
Hypophosphatemia, Giant cell tumor of bone, Hypocalcemia, Neurofibromas, Osteosarcoma, Neoplasm o... ORPHA:352540
Fragile X Syndrome
Macroorchidism ORPHA:908
Vitamin D-Dependent Rickets, Type 3
Elevated circulating parathyroid hormone level, Hypophosphatemia, Hypocalcemia OMIM:619073
Neonatal Hemochromatosis
Hypoglycemia, Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Linear Verrucous Nevus Syndrome
Neoplasm of the central nervous system, Hypophosphatemia, Astrocytoma ORPHA:2611
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cidec-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycyst... ORPHA:435651
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Macroglossia... ORPHA:90674
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Pancreatitis, Primary hyperparathyroidism, Multiple lipomas, Hypercalcemia, Hyp... OMIM:600740
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1, ... ORPHA:85327
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Pancreatitis, Hypoglycemia OMIM:619386
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroidism OMIM:301035
Juvenile Polyposis Syndrome
Small intestinal polyposis, Neoplasm of the pancreas, Hepatic arteriovenous malformation, Intussu... ORPHA:2929
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Goiter, Hashimoto thyroiditis ORPHA:83601
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased circulating androgen concentration, Hypergonadotropic hypogonadism, Primary gonadal ins... ORPHA:90796
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Ambiguous genitalia,... OMIM:202010
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Hepatic fibrosis, Portal inflammation, Hepatic steatosis,... OMIM:603471
Intellectual Developmental Disorder, X-Linked, Syndromic 13
High palate, Male hypogonadism, Macroorchidism OMIM:300055
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus ORPHA:676
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia OMIM:616113
Polymerase Proofreading-Related Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... ORPHA:447877
Neurofibromatosis Type 1
Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Abnormality of the endocrine syst... ORPHA:636
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... ORPHA:79140
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... ORPHA:8
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Impaired growth-hormone response to insulin stimula... OMIM:618157
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Hepatomegaly ORPHA:67046
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism OMIM:301033
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Cholesterol gallstones, Hepatic fibrosi... OMIM:600803
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Insulin resistance, Cirrhosis, Lymphoma, Acute pancreatitis, Insu... ORPHA:79086
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... ORPHA:95699
Panhypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95513
Opitz Gbbb Syndrome
High palate, Anal atresia, Ectopic anus, Bicornuate uterus, Cleft palate, Bifid scrotum, Hypospad... ORPHA:2745
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Congenital Hypothyroidism
Abnormal hair morphology, Abnormality of the thyroid gland, Macroglossia, Thyroid dysgenesis, Tra... ORPHA:442
Birt-Hogg-Dubé Syndrome
Renal cell carcinoma, Medullary thyroid carcinoma, Multiple lipomas, Parathyroid adenoma ORPHA:122
Gastrointestinal Stromal Tumor
Intestinal obstruction, Neurofibromas, Gastrointestinal stroma tumor OMIM:606764
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hepatomegaly, Splenomegaly, Elevated circulating parathyroid hormone level, Pri... OMIM:239200
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Orofaciodigital Syndrome Type 1
High palate, Exocrine pancreatic insufficiency, Cleft palate, Multicystic kidney dysplasia, Chron... ORPHA:2750
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Diffuse... ORPHA:276556
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Primary gonadal insuffici... ORPHA:2232
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Aplasia/Hypoplasia of the p... ORPHA:65288
Carney-Stratakis Syndrome
Intestinal obstruction, Paraganglioma, Gastrointestinal stroma tumor ORPHA:97286
Fibrous Dysplasia Of Bone
Abnormality of the endocrine system, Elevated circulating growth hormone concentration, Thyroid c... ORPHA:249
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95512
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology ORPHA:1221
Generalized Glucocorticoid Resistance Syndrome
Hirsutism, Precocious puberty, Decreased circulating aldosterone level, Increased circulating cor... ORPHA:786
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyoma,... OMIM:150800
Sim1-Related Prader-Willi-Like Syndrome
Precocious puberty, Type II diabetes mellitus, External genital hypoplasia, Small pituitary gland... ORPHA:398079
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Lymphoma, Splenomegaly ORPHA:100025
Gitelman Syndrome
Neoplasm of the pancreas, Graves disease, Type II diabetes mellitus, Parathyroid adenoma, Diabeti... ORPHA:358
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
17Q11 Microdeletion Syndrome
Optic nerve glioma, Gastrointestinal stroma tumor, Elevated circulating parathyroid hormone level... ORPHA:97685
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hirsutism, Ovarian cyst, Hemorrhagic ovarian cyst, Increased ... ORPHA:64739
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Lymphoma, Abnormal spleen physio... ORPHA:398063
Glioma Susceptibility 3
Medulloblastoma, Astrocytoma, Glioblastoma multiforme OMIM:613029
Hypophosphatemic Rickets
Precocious puberty, Hypophosphatemia, Hyperthyroidism, Elevated circulating parathyroid hormone l... ORPHA:437
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Ataxia-Telangiectasia
Neoplasm, Type II diabetes mellitus, Hypopigmentation of hair, Delayed puberty, Aplasia/Hypoplasi... ORPHA:100
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Paraganglioma, Hypercalcemia ORPHA:94080
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Neoplasm, Neoplasm of the liver, Uterine neoplasm, Hypoinsulinemia, Prostate ca... ORPHA:2126
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Pituitary adenoma, Adrenocorticotropic hormone deficiency, Graves disease, De... ORPHA:199299
Addison Disease
Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Decreased circulating corti... ORPHA:85138
Endocardial Fibroelastosis
Hypoglycemia, Cryptorchidism, Anterior hypopituitarism ORPHA:2022
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Panhypopituitarism, Hypoglycemic seizures, Reduced circulating prolactin c... OMIM:262600
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Accessory spleen, Multicysti... ORPHA:564
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Macroorchidism, Sparse eyebrow, Sparse eyelashes, Hypospadias, Bilateral cleft lip a... OMIM:618874
Oculoskeletodental Syndrome
Hypocalcemia, Hepatomegaly, Splenomegaly, Hypothyroidism, Hypercalcemia, Cryptorchidism OMIM:618440
Mastocytosis
Hepatomegaly, Splenomegaly, Sarcoma, Chronic leukemia, Hypercalcemia, Acute leukemia ORPHA:98292
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Abnormality of the liver OMIM:240150
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Hypophosphatemia, Hypocalcemia ORPHA:93160
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Splenomegaly, Insulin resistance, Cirrhosis, Maternal diabetes, Insul... ORPHA:79083
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Systemic Capillary Leak Syndrome
Multiple myeloma, Pancreatitis, Pulmonary edema, Myocarditis, Pleural effusion, Pericarditis ORPHA:188
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Cardiomegaly, Macroorchidism ORPHA:324410
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism, Ectopic anus ORPHA:1643
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pulmonary artery, Abnormality of the pancreas ORPHA:1203
Leprechaunism
Hypertrichosis, Hyperinsulinemia, Hepatomegaly, Facial hypertrichosis, Increased circulating reni... ORPHA:508
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Secondary hyperparathyroidism, Hypophosphatemia, Elevated circulating parathyroid hormone level, ... OMIM:264700
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Optic atrophy, Hypogonadism, Abnormal testis morphology ORPHA:791
Cog2-Cdg
Small pituitary gland ORPHA:435934
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Insulin resistance, Cirrhosis, Maternal diabetes, In... OMIM:604367
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoglycemia, Jaundice OMIM:617156
Atypical Werner Syndrome
Hyperinsulinemia, Ovarian neoplasm, Alopecia, Neoplasm of the small intestine, Neoplasm of the or... ORPHA:79474
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Decreased testicular... ORPHA:3085
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Hypothyroidism, Hypocalcemic tetany, Hyperphospha... OMIM:612462
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Hepatic steatosis, Hepatomegaly OMIM:617872
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Decreased response to growth hormone stimulation test, Elevated circulating parathy... ORPHA:94089
Primary Lipodystrophy
Type II diabetes mellitus, Pancreatitis, Splenomegaly, Insulin resistance, Cirrhosis, Polycystic ... ORPHA:90970
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Splenomegaly, Insulin resistance, Diabetes mellitus, Polycystic ovari... ORPHA:2348
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:613038
Aromatase Deficiency
Generalized hirsutism, Ambiguous genitalia, female, Type II diabetes mellitus, Hypergonadotropic ... ORPHA:91
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Perifolliculitis, Acne inversa, Squamous cell carcinoma, Recurrent cutaneou... OMIM:613736
Pleuropulmonary Blastoma
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma OMIM:601200
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice OMIM:243300
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Decreased response to growth hormone stimulation test, Micropenis, Congenital hypop... OMIM:241410
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hypophosphatemia, Hypercalcemia OMIM:156400
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia ORPHA:2238
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Vitamin D-Dependent Rickets, Type 2A
Secondary hyperparathyroidism, Hypophosphatemia, Elevated circulating parathyroid hormone level, ... OMIM:277440
Adamantinoma
Hypercalcemia ORPHA:55881
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphatemia, Hypocalcemic se... OMIM:618883
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Hirsutism, Diabetes mellitus OMIM:608709
Pediatric-Onset Graves Disease
Graves disease, Hepatomegaly, Splenomegaly, Increased circulating free T3, Increased circulating ... ORPHA:525731
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Propionic Acidemia
Hypoglycemia, Hepatomegaly ORPHA:35
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst ORPHA:397685
Steinert Myotonic Dystrophy
Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Alopecia, Hypergonadotropic hypogonadism, N... ORPHA:273
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Gout, In... OMIM:232220
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... ORPHA:231720
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Chole... OMIM:615710
Culler-Jones Syndrome
Cleft palate, Micropenis, Hypopituitarism, Ectopic posterior pituitary, Hypogonadism, Cryptorchid... OMIM:615849
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Prader-Willi Syndrome
Precocious puberty, External genital hypoplasia, Decreased response to growth hormone stimulation... ORPHA:739
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Decreased circulating osteocalcin level OMIM:125700
Hypocalcemic Vitamin D-Dependent Rickets
Secondary hyperparathyroidism, Hypophosphatemia, Hypocalcemia, Elevated circulating parathyroid h... ORPHA:289157
Rhabdoid Tumor Predisposition Syndrome 1
Choroid plexus carcinoma, Medulloblastoma OMIM:609322
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Alopecia,... ORPHA:453533
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Pancreatitis, Hepatomegaly OMIM:618805
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Hepatomegaly, Macroglossia, Hepatosplenomegaly, Bifid uvula, Cholestasis, Congenital... OMIM:266920
Proteus Syndrome
Lymphangioma, Ovarian neoplasm, Neoplasm of the thymus, Long penis, Retinal hamartoma, Enlarged p... ORPHA:744
Autoimmune Hypoparathyroidism
Hypocalcemia, Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic... ORPHA:36913
Fanconi-Bickel Syndrome
Hypophosphatemia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma, Hyp... ORPHA:2088
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypothyroidism, Hypocalcemic tetany, Hyperphospha... OMIM:103580
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Monosomy 9Q22.3
Medulloblastoma, Odontogenic keratocysts of the jaw, Nephroblastoma, Rhabdomyosarcoma, Basal cell... ORPHA:77301
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Fasting ... OMIM:613027
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Type II diabetes mellitus, External genital hypoplasia, Small pituitary gland... ORPHA:398069
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Pancreatitis, Hepatomegaly ORPHA:289916
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Ane Syndrome
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... ORPHA:157954
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Anterior hypopituitarism, Decreased response to growth hormone stimulati... OMIM:221750