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Gene: Men1 MGI:1316736

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar... ORPHA:145
Thyroid Cancer, Nonmedullary, 4
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm OMIM:616534
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Pheochromocytoma/Paraganglioma Syndrome 7
Pheochromocytoma, Paraganglioma OMIM:618475
Ovarian Cancer
Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma 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
Familial Melanoma
Abnormal hair morphology, Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm o... ORPHA:618
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal... OMIM:180295
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas... ORPHA:438274
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma, Neoplasm of the gastrointestinal tract OMIM:606864
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Maffucci Syndrome
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... ORPHA:163634
Carney Complex, Type 1
Palatine myxoma, Pituitary adenoma, Myxoid subcutaneous tumors, Schwannoma, Pheochromocytoma, Thy... OMIM:160980
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Squamous cell carcinoma, Aplasia/Hypoplasia of the eyebrow, Basal cell car... ORPHA:50944
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci... OMIM:145001
Subependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251639
Ependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251636
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Schwannomatosis 2
Schwannoma, Spinal cord tumor OMIM:615670
Desmoplastic Small Round Cell Tumor
Ileus, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly, Sarcoma, Ovarian neopla... ORPHA:83469
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Carcinoid Tumors, Intestinal
Intestinal carcinoid OMIM:114900
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Neoplasm of the skeletal system,... ORPHA:1332
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Infantile Myofibromatosis
Neoplasm of the skin, Abnormal hair morphology, Benign neoplasm of the central nervous system, In... ORPHA:2591
Pheochromocytoma/Paraganglioma Syndrome 5
Paraganglioma OMIM:614165
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen... ORPHA:206484
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... OMIM:168000
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor... OMIM:158320
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... OMIM:171400
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Pheochromocytoma, Multiple renal cysts, Paraganglioma, Renal cell c... OMIM:193300
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal carcinoma, Pancreatic adenocarcinoma, Neoplasm of the co... ORPHA:2869
Acquired Hypertrichosis Lanuginosa
Neoplasm of the respiratory system, Fine hair, Abnormal eyebrow morphology, Neoplasm, Generalized... ORPHA:2221
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Elevated circulating catecholamine level, Chemodectoma, Adrenal ph... OMIM:605373
Small Cell Cancer Of The Lung
Neoplasm of the lung OMIM:182280
Familial Colorectal Cancer Type X
Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon, Stomach ca... ORPHA:440437
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Neoplasm of the thyroid gland, Ovarian neoplasm, Hamartoma, Neoplasm of th... ORPHA:137608
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Neoplasm of head and neck, Papillary renal cell carcinoma, Renal cortical adenoma, Papill... ORPHA:97290
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Nail dys... ORPHA:79501
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketotic hypoglycemia, Hypoglycem... ORPHA:293964
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Uterine neoplasm, Intestinal bleeding, Bile duct polyp, Intussuscepti... OMIM:175200
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Neoplasm of the pancreas, Pancreat... ORPHA:370348
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... ORPHA:144
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Chemodectoma, Gastrointestinal stroma tumor, Adrenal pheochromocy... OMIM:115310
Familial Pancreatic Carcinoma
Peritoneal abscess, Intestinal pseudo-obstruction, Colon cancer, Pancreatic adenocarcinoma, Exocr... ORPHA:1333
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Neoplasm of head and neck, Papillary renal cell carcinoma, ... ORPHA:319487
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Cowden Syndrome 1
Thyroiditis, Varicocele, Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Menin... OMIM:158350
Hyperparathyroidism 4
Hypercalcemia, Parathyroid carcinoma, Primary hyperparathyroidism OMIM:617343
Fanconi Anemia, Complementation Group S
Long eyelashes, Ovarian carcinoma, Low anterior hairline, Narrow palate, Sparse hair, Ovarian neo... OMIM:617883
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Pa... OMIM:612089
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Hirsutism, Sparse axillary hair, Chordee,... OMIM:613762
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Adrenocortical... ORPHA:97278
Parathyroid Carcinoma
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma OMIM:608266
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Papilledema, Elevated circulating catecholamine level, Endolymphati... ORPHA:892
Grfoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o... ORPHA:97261
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Cowden Syndrome 7
Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hashimoto thyroiditis, Hem... OMIM:616858
Thymic Neuroendocrine Tumor
Pituitary adenoma, Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Increased circulati... ORPHA:97289
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism, High palate OMIM:300428
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Peritonitis, Odontogenic kerato... ORPHA:314473
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Macroglossia, Ovarian n... ORPHA:65285
Somatostatinoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o... ORPHA:97283
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f... OMIM:609152
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:99819
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease, Polysplenia OMIM:211890
Werner Syndrome
Neoplasm of the oral cavity, Premature graying of hair, White forelock, Type II diabetes mellitus... ORPHA:902
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:424
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Chylous Ascites
Abnormal intestine morphology, Neoplasm, Pancreatitis ORPHA:1160
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... ORPHA:653
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolactin cell adenoma, Inc... OMIM:131100
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Alopecia, Decreased serum estradiol, Abnormal thalamus morphology, Insulin-resistant... ORPHA:2959
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome, Hypospadias OMIM:201710
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia OMIM:613571
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci... ORPHA:90790
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Diffuse leiomyomatosis, Hirsutism, Abnormal endo... ORPHA:314478
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... ORPHA:251510
Campomelia, Cumming Type
Multicystic kidney dysplasia, Myelodysplasia, Abnormal intestine morphology, Multiple renal cysts... ORPHA:1318
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Decreased circulating re... ORPHA:231632
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Meningioma, Fibroa... OMIM:615109
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Familial Isolated Hyperparathyroidism
Elevated circulating parathyroid hormone level, Hypophosphatemia, Parathyroid adenoma, Hypercalce... ORPHA:99879
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hyperhidrosis OMIM:171420
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:203330
Blepharochalasis And Double Lip
Goiter OMIM:109900
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, High palate, Colo... ORPHA:201
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:913
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Elevated circulating parathyroid hormone level, Renal hamartoma, Pancreatic adenoca... ORPHA:99880
Glucagonoma
Intrahepatic cholestasis, Pituitary adenoma, Adrenocortical adenoma, Increased circulating prolac... ORPHA:97280
Phakomatosis Pigmentokeratotica
Precocious puberty, Cutaneous melanoma, Pheochromocytoma, Cryptorchidism, Nephroblastoma, Hemangi... ORPHA:2874
Mccune-Albright Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Cholestasis,... ORPHA:562
Multiple Endocrine Neoplasia, Type Iib
Elevated circulating calcitonin concentration, Pheochromocytoma, Ganglioneuroma, Medullary thyroi... OMIM:162300
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia, Parathyroid hyperplasia, Elevated circulating parathyroid hormo... OMIM:617994
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Parathyroid Carcinoma
Peptic ulcer, Elevated circulating parathyroid hormone level, Renal hamartoma, Parathyroid carcin... ORPHA:143
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Polyembryoma
Increased serum serotonin, Gonadal neoplasm, Neoplasm of head and neck, Abnormality of the endocr... ORPHA:180229
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce... ORPHA:94090
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Le... ORPHA:139411
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Hypospadias, Adrenal... OMIM:201910
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Adenocarcinoma of the colon, Primary hypercortisolism, Adrenocorticotr... ORPHA:100079
Nephronophthisis 13
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:614377
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Abnormal hair morphology, Oligozoospermia, Macroorchidism ORPHA:3000
Cowden Syndrome 5
Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Meningioma, Furrowed tongue, O... OMIM:615108
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Type II diabetes mellitus... OMIM:274300
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Chemodectoma, Neoplasm, Glomus jugular tumor, Glomus tympanicum paraganglioma OMIM:601650
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins... ORPHA:54595
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Ambiguous genitalia, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Meningioma
Neoplasm of the skin, Increased circulating prolactin concentration, Neoplasm of the posterior pi... ORPHA:2495
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Renal angiomyolipoma, Hypothyroidi... OMIM:610755
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Rhabdoid Tumor
Neoplasm of the liver, Renal neoplasm, Sarcoma, Hypercalcemia, Neoplasm of the central nervous sy... ORPHA:69077
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Hemangiomatosis, Hepatomegaly, Hypercalcemia, Visceral angiomatosis ORPHA:2123
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... ORPHA:403
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts OMIM:616307
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Granulomatous Slack Skin
Hodgkin lymphoma, Hypercalcemia, Lymphoma ORPHA:33111
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Portal hypertension,... OMIM:263200
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating horm... OMIM:610199
Anaplastic Thyroid Carcinoma
Goiter, Neoplasm of the skeletal system, Tracheoesophageal fistula, Nodular goiter, Anaplastic th... ORPHA:142
Thyroid Lymphoma
Lymphoma, Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism ORPHA:97285
Igg4-Related Thyroid Disease
Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing chol... ORPHA:64744
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Bazex Syndrome
Liposarcoma, Lung adenocarcinoma, Neoplasm ORPHA:166113
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, M... ORPHA:137605
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Hypercalcemia, Cryptorchidism, Adrenal hyp... OMIM:614732
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of ... OMIM:620189
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Renal angiomyolipoma, Parathyroid adenoma, Angiofibromas, Cortical tubers, P... ORPHA:805
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Capillary hemangioma, Hyperinsulinemia, Crypto... ORPHA:2849
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Cranial nerve compression, Adrenal pheochromocytoma, Paraganglioma... ORPHA:276621
Dyskeratosis Congenita
Alopecia, Oral leukoplakia, Lymphoma, Abnormal morphology of female internal genitalia, Premature... ORPHA:1775
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Hypoglycemia OMIM:262400
Partington Syndrome
Macroorchidism ORPHA:94083
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Hypercalcemia ORPHA:2668
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Progressive Osseous Heteroplasia
Sarcoma, Abnormality of the parathyroid gland ORPHA:2762
Pheochromocytoma
Pheochromocytoma, Neoplasm, Hemangioma, Hyperhidrosis OMIM:171300
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Neoplasm of the larynx, Adrenocorticotropic h... ORPHA:100083
Nephronophthisis-Like Nephropathy 1
Renal corticomedullary cysts, Pancreatic cysts, Chronic pancreatitis OMIM:613159
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Hereditary Pheochromocytoma-Paraganglioma
Retinal capillary hemangioma, Extraadrenal pheochromocytoma, Cranial nerve compression, Arachnoid... ORPHA:29072
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Hirsutism OMIM:184700
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Micropenis, Cleft palate OMIM:614880
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis... OMIM:612702
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Increased circulating free T4 concentratio... OMIM:275000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid... ORPHA:2239
Ascher Syndrome
High palate, Hypothyroidism, Goiter ORPHA:1253
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circ... ORPHA:3453
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Bangstad Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter OMIM:210740
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:603233
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Neurofibromatosis, Type I
Neurofibroma, Meningioma, Rhabdomyosarcoma, Pheochromocytoma, Plexiform neurofibroma, Astrocytoma... OMIM:162200
Cowden-Like syndrome
Endometrial carcinoma, Papillary thyroid carcinoma, Breast carcinoma, Uterine leiomyoma OMIM:612359
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Acholic stools, Jaundice, Hep... ORPHA:65682
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea... OMIM:167800
17Q11.2 Microduplication Syndrome
Macroorchidism, Sparse eyebrow, Sparse eyelashes ORPHA:139474
Pendred Syndrome
Hyperparathyroidism, Hypothyroidism, Thyroid carcinoma, Goiter ORPHA:705
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... OMIM:613239
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypermagnesemia, Pancreatitis, Parathyroid adenoma, Hypercalcemia OMIM:145980
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Hirsutism, Enlarged polycystic ovaries, Polycystic ovaries, ... ORPHA:90301
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydroce... ORPHA:96181
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hi... OMIM:615830
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hyperten... OMIM:267010
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Malignan... ORPHA:2302
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pyelonephritis, Hepatic cysts, Renal cyst, Pancreatic cyst... ORPHA:730
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Decreased circulating... OMIM:146200
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Neoplasm, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, Polycystic ovaries, High palate, Macroorchidism, Sparse hair ORPHA:284180
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia OMIM:239199
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Abnormal circulating calcium concentration, Secondary hyper... ORPHA:140286
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Familial Adenomatous Polyposis 1
Osteoma, Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duode... OMIM:175100
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Synophrys OMIM:300143
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Crouzon Syndrome
High palate, Dysgerminoma OMIM:123500
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Pleural effusion, Splenomegaly, Abnormal spleen morphology, Multiple renal cy... ORPHA:464329
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Alveolar Echinococcosis
Pulmonary cyst, Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hyper... ORPHA:284
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Clark-Baraitser syndrome
Macroorchidism, Exaggerated median tongue furrow OMIM:300602
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Small Cell Carcinoma Of The Bladder
Hypercalcemia, Bladder neoplasm ORPHA:284400
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Insulin-Resistance Syndrome Type B
Alopecia, Biliary cirrhosis, Abnormal circulating leptin concentration, Lymphoma, Insulin-resista... ORPHA:2298
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Breast in... OMIM:617100
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased circulating cortiso... ORPHA:99889
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Glycogen Storage Disease Vi
Hepatomegaly, Hypoglycemia, Increased hepatic glycogen content OMIM:232700
Rabson-Mendenhall Syndrome
Precocious puberty, Increased circulating androgen concentration, Clitoral hypertrophy, Long peni... ORPHA:769
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Alopecia, Central adrenal insufficiency, Hypogonadotropic hypogonadism, De... OMIM:612079
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Leydig Cell Hypoplasia
Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, A... ORPHA:755
Full Schwannomatosis
Peripheral schwannoma, Meningioma, Lumbosacral hemangioma, Schwannoma, Neoplasm, Neoplasm of the ... ORPHA:93921
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276580
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Cholestasis, Hyperi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Cholestasis, Hyperi... ORPHA:71526
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormal peritoneum morphology ORPHA:2023
Apert Syndrome
Bifid uvula, Ectopic anus, Esophageal atresia, Narrow palate, Ovarian neoplasm, Cleft palate ORPHA:87
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276575
Basal Cell Nevus Syndrome 1
Hamartomatous stomach polyps, Cardiac rhabdomyoma, Medulloblastoma, Cardiac fibroma, Ovarian carc... OMIM:109400
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Multiple lipomas, Pancreatitis, Hypercalcemia, Primary hyperparathyroidism OMIM:145981
Neurofibromatosis Type 1
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Precocious puberty, Pl... ORPHA:636
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Nephritis, Renal cyst, Bile duct proliferation, Pancreatic fibrosis, Jaundice, ... OMIM:208500
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Lujan-Fryns Syndrome
Macroorchidism, High palate ORPHA:776
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Abnormal circulating h... ORPHA:280356
Juvenile Polyposis Syndrome
Rectocele, Protein-losing enteropathy, Intussusception, Stomach cancer, Neoplasm of the gastroint... ORPHA:2929
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Left ventricular hypertrophy, Adrenal hyperplasia, Glucocortocoid-ins... ORPHA:251274
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy, Multinodular goiter, Squamous cell carcinoma OMIM:618373
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Neuroendocrine neoplasm, Increased circulating cortisol level, Menin... ORPHA:189427
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Oncogenic Osteomalacia
Neurofibroma, Neoplasm of head and neck, Hypocalcemia, Neoplasm of the skeletal system, Hypophosp... ORPHA:352540
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... ORPHA:1183
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti... ORPHA:69663
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... ORPHA:226313
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Hypothyroidism, Goiter ORPHA:83601
Orofaciodigital Syndrome I
Hepatic fibrosis, Hamartoma of tongue, Ankyloglossia, Hepatic cysts, Ovarian cyst, Hypothalamic h... OMIM:311200
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Recurrent upper respiratory tract infections, Pancreatitis, Hypoglycemia OMIM:620137
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia OMIM:619073
Linear Verrucous Nevus Syndrome
Astrocytoma, Hypophosphatemia, Neoplasm of the central nervous system ORPHA:2611
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Pancreatitis, Hypercalcemia, Primary hyperpa... OMIM:600740
Mitochondrial Complex I Deficiency, Nuclear Type 8
Optic disc pallor, Pancreatitis OMIM:618230
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, Ad... ORPHA:95699
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Hepatic steatosis, Hypoglycemia OMIM:619386
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin ... ORPHA:324575
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Cryptorchidism, Polycystic ovar... ORPHA:90796
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi... ORPHA:79140
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia OMIM:300952
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus ORPHA:676
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:618157
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... ORPHA:8
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con... ORPHA:90674
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Fragile X Syndrome
Macroorchidism ORPHA:908
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia ORPHA:369929
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, High palate OMIM:300055
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Opitz Gbbb Syndrome
Thyroglossal cyst, Bifid scrotum, Ankyloglossia, Cryptorchidism, Ectopic anus, Enlarged ovaries, ... ORPHA:2745
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc... OMIM:600803
Birt-Hogg-Dubé Syndrome
Medullary thyroid carcinoma, Multiple lipomas, Renal cell carcinoma, Parathyroid adenoma ORPHA:122
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphoma, Hypocalcemia ORPHA:100025
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Panhypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95513
Acquired Generalized Lipodystrophy
Insulin resistance, Lymphoma, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic stea... ORPHA:79086
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Optic nerve hyp... ORPHA:65288
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Intellectual Developmental Disorder, X-Linked 112
Volvulus, Pyelonephritis, Cryptorchidism, Renal cyst, Pancreatic cysts OMIM:301111
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Odontogenic neoplasm, Chronic otitis media, Exocrine pancreatic ins... ORPHA:2750
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... ORPHA:249
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Splenomegaly, Hypophosphatemia, Calcinosis, Hepat... OMIM:239200
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s... OMIM:612462
Adenohypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95512
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus OMIM:608600
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Duodenal Atresia
Abnormality of the pulmonary artery, Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Non-Functioning Paraganglioma
Hypercalcemia, Paraganglioma, Paraganglioma of head and neck ORPHA:94080
Systemic Capillary Leak Syndrome
Pleural effusion, Pulmonary edema, Pancreatitis, Myocarditis, Multiple myeloma, Pericarditis ORPHA:188
Refractory Celiac Disease
Hypoalbuminemia, Lymphoma, Hypomagnesemia, Abnormal spleen physiology, Hypocalcemia, Hypophosphat... ORPHA:398063
Cheilitis Glandularis
Squamous cell carcinoma, Abnormal salivary gland morphology, Neoplasm ORPHA:1221
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Excessive in... ORPHA:276556
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Hepatitis, Graves disease, Adrenocorticotropin defic... ORPHA:199299
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Neurofibroma, Intestinal obstruction OMIM:606764
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes... ORPHA:44890
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Agonadism, Decre... ORPHA:2232
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... OMIM:150800
Gitelman Syndrome
Type I diabetes mellitus, Graves disease, Type II diabetes mellitus, Hashimoto thyroiditis, Delay... ORPHA:358
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Hirsutism, Enlarged polycystic ovaries, Increased serum t... ORPHA:64739
17Q11 Microdeletion Syndrome
Glioma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Precocious puberty, Plexif... ORPHA:97685
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Premature graying of hair, Neoplasm, Type II diabetes mellitus,... ORPHA:100
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Precocious puberty, Small scrotum, Premature adrenarche, Xerostomia, Centr... ORPHA:398079
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia, Hypocalcemic seiz... OMIM:264700
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction ORPHA:97286
Oculoskeletodental Syndrome
Splenomegaly, Cryptorchidism, Hypocalcemia, Hypothyroidism, Hepatomegaly, Hypercalcemia OMIM:618440
Addison Disease
Thymoma, Type I diabetes mellitus, Androgen insufficiency, Adrenal calcification, Increased circu... ORPHA:85138
Meckel Syndrome
Accessory spleen, Optic atrophy, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, ... ORPHA:564
Solitary Fibrous Tumor
Uterine neoplasm, Genital neoplasm, Vaginal neoplasm, Neoplasm, Prostate cancer, Soft tissue neop... ORPHA:2126
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Glucose intolerance, Polycystic ovar... OMIM:615363
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Sparse eyebrow, Ankyloglossia, Alopecia of scalp, Bilateral cleft palate, Sparse eyelashes, High ... OMIM:618874
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Macroorchidism, Protruding tongue ORPHA:324410
Diarrhea 13
Hepatic steatosis, Recurrent hypoglycemia OMIM:620357
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Ectopic anus, Polycystic ovaries ORPHA:1643
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Hypophosphatemia, Hypocalcemia ORPHA:93160
Blue Diaper Syndrome
Decreased circulating T4 concentration, Hypercalcemia, Hyperphosphatemia, Elevated circulating th... ORPHA:94086
Cog2-Cdg
Small pituitary gland ORPHA:435934
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Polycys... ORPHA:79083
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Leprechaunism
Megarectum, Clitoral hypertrophy, Long penis, Facial hypertrichosis, Central hypothyroidism, Over... ORPHA:508
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Endocardial Fibroelastosis
Anterior hypopituitarism, Cryptorchidism, Hypoglycemia ORPHA:2022
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Thyroid hypoplasia, Inappropriately normal thyroid-stimulating hormone le... OMIM:301035
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti... ORPHA:3085
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:94089
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
Atypical Werner Syndrome
Neoplasm of the skin, Insulin-resistant diabetes mellitus, Sparse body hair, Neoplasm of the oral... ORPHA:79474
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... OMIM:615849
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Gorlin Syndrome
Meningioma, Neoplasm, Medulloblastoma, Cryptorchidism, Cardiac fibroma, Hypogonadotropic hypogona... ORPHA:377
Ziegler-Huang Syndrome
Hypogonadism, Cryptorchidism, Elevated circulating follicle stimulating hormone level, Anterior p... OMIM:620501
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperparathyroidism, Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Pediatric-Onset Graves Disease
Graves disease, Goiter, Puberty and gonadal disorders, Splenomegaly, Increased circulating free T... ORPHA:525731
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomega... ORPHA:2348
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma OMIM:601200
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Squamous cell carcinoma, Chronic furunculosis, Perifolliculitis, Recurrent cutaneou... OMIM:613736
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Hepatic steatosis, Typ... ORPHA:91
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia, Elevated circulating parathyroid hormone level, Secondar... OMIM:277440
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:168558
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hypophosphatemia, Hypercalcemia OMIM:156400
Glioma Susceptibility 3
T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas... OMIM:613029
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Adamantinoma
Hypercalcemia ORPHA:55881
Sheehan Syndrome
Secondary growth hormone deficiency, Sparse pubic hair, Decreased serum estradiol, Adrenocorticot... ORPHA:91355
Lipodystrophy, Partial, Acquired, Susceptibility To
Hirsutism, Diabetes mellitus, Hepatic steatosis, Polycystic ovaries OMIM:608709
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... ORPHA:231720
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypocal... OMIM:241410
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca... OMIM:618883
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... OMIM:225250
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Optic atrophy, Pancreatitis ORPHA:289916
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... ORPHA:2238
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Optic atrophy, Pancreatitis, Splenomegaly ORPHA:79312
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicula... ORPHA:453533
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Macroglossia, Bifid uvula, Recurrent respiratory infections, Cholestasis, Hepat... OMIM:266920
Glycogen Storage Disease Ib
Inflammation of the large intestine, Hypoglycemia, Gout, Splenomegaly, Pancreatitis, Delayed pube... OMIM:232220
Steinert Myotonic Dystrophy
Neoplasm of the skin, Intestinal pseudo-obstruction, Hyperinsulinemia, Choroidal melanoma, Brain ... ORPHA:273
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Macroglossia, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulating... OMIM:613038
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia ORPHA:664
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:173100
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypocalcemia, Hypocalcemic... ORPHA:36913
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Monosomy 9Q22.3
Medulloblastoma, Cardiac fibroma, Nephroblastoma, Ovarian fibroma, Odontogenic keratocysts of the... ORPHA:77301
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Rhabdoid Tumor Predisposition Syndrome 1
Choroid plexus carcinoma, Medulloblastoma OMIM:609322
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis... OMIM:615710
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Hemochromatosis, Neonatal
Hepatic fibrosis, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neonat... OMIM:231100
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis OMIM:618805
Prader-Willi Syndrome
Small pituitary gland, Small scrotum, Precocious puberty, Premature adrenarche, Xerostomia, Decre... ORPHA:739
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypogonadism, Hypocalcemic tet... OMIM:103580
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita... OMIM:221750
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Fanconi-Bickel Syndrome
Abnormal hepatic glycogen storage, Increased hepatic glycogen content, Hypophosphatemia, Hypertri... ORPHA:2088
Ane Syndrome
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo... ORPHA:157954
Ring Chromosome Y Syndrome
Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Perineal... ORPHA:261529
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Carcinoid Syndrome
Increased serum serotonin, Hepatic necrosis, Atypical pulmonary carcinoid tumor, Carcinoid tumor,... ORPHA:100093
Acth Deficiency, Isolated
Cholestasis, Jaundice, Adrenocorticotropic hormone deficiency, Fasting hypoglycemia OMIM:201400
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Pancreatitis, Diabetic ketoacidosis ORPHA:70578
Distal Deletion 10P
Cryptorchidism, Polycystic ovaries, Ectopic anus, Anal atresia, Hypoplasia of penis, Cleft palate ORPHA:1580
Primary Sclerosing Cholangitis
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Hepatomegaly, Celi... ORPHA:171
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Trisomy 20P
Highly arched eyebrow, Coarse hair, Thick eyebrow, Cryptorchidism, Low anterior hairline, Low pos... ORPHA:261318
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Splenomegaly, Hypocalcemia, Hypophosphatemia, Hep... ORPHA:289157
Donohue Syndrome
Precocious puberty, Hepatic fibrosis, Postprandial hyperglycemia, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Precocious puberty, Small scrotum, Xerostomia, Central hypothyroidism, Hyp... ORPHA:398069
Hypodontia-Dysplasia Of Nails Syndrome
Fine hair, Polycystic ovaries ORPHA:2228
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma, Verrucae OMIM:618267
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, High palate OMIM:309520
Hypercalcemia, Infantile, 1