banner
Genes Phenotypes Help, News, Blog

Gene: Glis3 MGI:2444289

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
GLIS family zinc finger 3
Synonyms:
4833409N03Rik,  E330013K21Rik

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 Glis3 mutations

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

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

The table below shows human diseases associated to Glis3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating horm... OMIM:610199

The table below shows human diseases predicted to be associated to Glis3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp... OMIM:262700
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism, Growth delay, Pituitary dw... OMIM:262710
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci... OMIM:145001
Wolfram-Like Syndrome
Male hypogonadism, Glucose intolerance, Abnormality of the upper urinary tract, Central diabetes ... ORPHA:411590
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Congenital Atransferrinemia
Hypothyroidism, Abnormality of the pancreas ORPHA:1195
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, Dehydration OMIM:601410
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating free T3, Hy... OMIM:609698
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Intrauterine growth retardation, Transient n... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism, Short ... OMIM:300123
Campomelia, Cumming Type
Polysplenia, Short stature, Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease OMIM:211890
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceridemia, Hepatomegaly, Acute pan... OMIM:608600
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hypoglycemia, Hep... OMIM:231680
Thyroid Hormone Metabolism, Abnormal, 3
Abnormal circulating free T3 concentration, Increased circulating free T3, Euthyroid hyperthyroxi... OMIM:620198
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Thyroid Dyshormonogenesis 5
Hypothyroidism, Growth delay, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Growth delay, Goiter OMIM:274800
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Reactive hypogl... ORPHA:35878
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Nephronophthisis 9
Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c... OMIM:613824
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Long penis, Insulin-resistant diabetes mellitus, ... OMIM:262190
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Ascites, Intrauterine growth... OMIM:615710
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decreased testi... ORPHA:453533
Glycogen Storage Disease Vi
Hypoglycemia, Postnatal growth retardation, Hyperlipidemia, Increased hepatic glycogen content, H... OMIM:232700
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Intrauterine growth retardation, Cryptorchidism, Hepatomegaly, Dehydration OMIM:618958
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating horm... OMIM:610199
Enteric Anendocrinosis
Cholestatic liver disease, Type I diabetes mellitus, Portal hypertension, Dehydration ORPHA:83620
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Neonatal death, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasi... OMIM:208540
Bardet-Biedl Syndrome 10
Hypogonadism, Renal cyst, Renal insufficiency OMIM:615987
Donohue Syndrome
Precocious puberty, Hepatic fibrosis, Postprandial hyperglycemia, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Joubert Syndrome 26
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... OMIM:616784
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Abnormality of thyroid physiology, Corpus cavernosum hypoplasia, Cryptorchidism, Te... OMIM:615542
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho... ORPHA:3032
Hyperthyroxinemia, Familial Dysalbuminemic
Abnormal thyroid-stimulating hormone level, Increased circulating free T4 concentration, Euthyroi... OMIM:615999
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... OMIM:600955
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi... ORPHA:3363
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Type II diabetes mellitus... OMIM:274300
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Cryptorchidism, Hypothyroidism, Delayed puberty, Adren... ORPHA:95496
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Thyroid Dyshormonogenesis 6
Congenital hypothyroidism, Hypothyroidism OMIM:607200
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Femoral-Facial Syndrome
Long penis, Cryptorchidism, Renal hypoplasia/aplasia, Maternal diabetes, Short stature, Abnormal ... ORPHA:1988
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Adrenocortical cytomegaly, Renal cortical cysts, Vesico... OMIM:130650
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dehydration ORPHA:79159
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Multicystic kidney dysplasia, Acute kidney injury, Renal agenesis, Abnormality of ex... ORPHA:93111
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypoglycemia, Hypogonad... OMIM:617575
Hyperinsulinemic Hypoglycemia, Familial, 8
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyper... OMIM:620211
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... ORPHA:79323
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Renal insufficiency, Vesicoureteral reflux, Hy... ORPHA:2237
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Decreased response to growth hormone stimulation test, Intrau... OMIM:618347
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Congenital Macroglossia
Abnormal hepatic glycogen storage, Hypothyroidism ORPHA:2430
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria OMIM:618857
Familial Renal Glucosuria
Moderate postnatal growth retardation, Glycosuria, Dehydration ORPHA:69076
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Hypersplenism, Portal hype... OMIM:619902
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Propionic Acidemia
Hypoglycemia, Pancreatitis, Hepatomegaly, Short stature, Dehydration OMIM:606054
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Adrenal... ORPHA:85445
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst, Neonatal death OMIM:614870
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced circulating prolactin concentration, Inappropriately normal thyroid-stimu... OMIM:300888
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Decreased circulating free T4 concentration, Short stature, Thyroid hypop... OMIM:301035
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly, Dehydration ORPHA:79312
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Polycystic ovaries ORPHA:79084
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Bardet-Biedl Syndrome 16
Renal agenesis, Hypogonadism, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Re... OMIM:615993
Thyrotropin-Releasing Hormone Deficiency
Short stature, Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Hyperglycemia, I... ORPHA:99885
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ... OMIM:613095
Carnitine Deficiency, Systemic Primary
Recurrent hypoglycemia, Decreased carnitine level in liver, Microvesicular hepatic steatosis, Hep... OMIM:212140
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Dehydration ORPHA:28
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Growth delay, Exocrine panc... ORPHA:1667
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Decreased testicular size, Postna... OMIM:616113
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Severe intrauterine growth retardation, Diabe... OMIM:609069
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Glucos... OMIM:137920
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Hepatic cysts, Hypothyroidism, Membranous nephropathy, Short stature, Nephrot... OMIM:618999
Thyroid Dyshormonogenesis 1
Hypothyroidism, Growth delay, Goiter OMIM:274400
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/... ORPHA:261265
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, 3-Methylglutaric aciduria, Glutaric aciduria, Hypoglycemia, Hepatic periporta... ORPHA:26791
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis... OMIM:614377
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Dehydration ORPHA:27
Combined Malonic And Methylmalonic Acidemia
Dehydration, Hypoglycemia ORPHA:289504
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulating free T3, Decr... OMIM:613038
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Hypothyroidism, Congenital, Nongoitrous, 5
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyr... OMIM:225250
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis, Dehydration, Hypoglycemia OMIM:251000
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Hypoketotic hypoglycemia, Stage 5 chronic kidney disease, Hepatic calcification,... ORPHA:157
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus... ORPHA:280356
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia OMIM:604484
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... OMIM:614736
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid... ORPHA:64744
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Pendred Syndrome
Nephropathy, Hyperparathyroidism, Goiter, Thyroid carcinoma, Hypothyroidism ORPHA:705
C Syndrome
Hepatomegaly, Renal cortical cysts, Short stature, Cryptorchidism OMIM:211750
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Recurrent hypoglycemia, Intrauterine growth retardation, Cryptorchidism, Hypoth... OMIM:616817
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Nephritis, Glycosuria, Insulin-resistant diabetes... ORPHA:2298
Bardet-Biedl Syndrome 4
Hypogonadism, Renal cyst, Cryptorchidism, Abnormality of the kidney OMIM:615982
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Ketonuria, Glycosuria ORPHA:2089
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Vipoma
Intrahepatic cholestasis, Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating ... ORPHA:97282
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Abnormal circulating aldosterone, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:171876
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Li-Campeau Syndrome
Micropenis, Hypothyroidism, Short stature, Cryptorchidism OMIM:619189
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Short stature, Jaundice, Hypothyroidism ORPHA:2349
Cystinosis
Type I diabetes mellitus, Portal hypertension, Hypothyroidism, Delayed puberty, Nephrogenic diabe... ORPHA:213
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Type I diabetes mellitus, Dehydration OMIM:560000
Rhyns Syndrome
Hypopituitarism, Abnormality of the liver, Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Joi... ORPHA:465508
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Renal insufficiency, Lipid accumulation in hepatocytes, Hepatic calcification, Hydr... OMIM:608836
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Cryptorchidism, Dehydration OMIM:214150
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Renal angiomyolipoma, Hypothyroidi... OMIM:610755
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease OMIM:174050
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Intrauterine growth retardation OMIM:606176
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Euthyr... OMIM:113650
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Intrauterine growth retardation, Cryptorchidism, Hypoplasia of the thymus, Hepatom... OMIM:214110
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Polycystic kidney dysplasia OMIM:263210
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Hypothyroidism, ... OMIM:615952
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Wolfram Syndrome 1
Hydroureter, Growth delay, Hydronephrosis, Hypothyroidism, Neurogenic bladder, Testicular atrophy... OMIM:222300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Renal insufficiency, Hepatic st... ORPHA:228308
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Hepatic agenesis, Renal cyst, Micropenis ORPHA:1692
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Trichohepatoenteric Syndrome 1
Hepatic fibrosis, Galactosuria, Cholestasis, Renal cortical microcysts, Intrauterine growth retar... OMIM:222470
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Renal hypoplasia, Renal cyst, Short stature, Polycystic kidney dysplasia, Hypos... OMIM:614091
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Supernumerary nipple, Hyperechogenic kidneys, Rhizomelic arm shortening, Renal cortical cysts, Re... ORPHA:397715
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypothyroidism, Hypohidrosis, Hypoparathyroidism, Short stature ORPHA:1563
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Intrauterine growth retardation, Hypergonadotropic hypogonadism OMIM:619737
Potocki-Shaffer Syndrome
Micropenis, Hypothyroidism, Delayed puberty, Nephroblastoma ORPHA:52022
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Growth delay, Glycosuria, Abnormal hepatic glycogen storage, Increase... ORPHA:2088
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Hypothyroidism, Abnormality of the urethra, Cryptorchidism ORPHA:752
Thyroid Lymphoma
Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Goiter ORPHA:97285
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Increased circulating corticosterone level, Decr... OMIM:610600
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Mild postnatal growth retardation, Hyperechogenic pancreas, Ab... ORPHA:456312
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Cryptorchidism OMIM:175700
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:616033
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly OMIM:608776
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Female hypogonadism, Male hypogonadism, Type I diabetes mellitus, Nephrocalcinosi... OMIM:240300
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Decreased circulating aldosterone level, Elevated serum 11-deoxycor... ORPHA:556030
Silver-Russell Syndrome Due To A Point Mutation
Microphallus, Hypoglycemia, Postnatal growth retardation, Intrauterine growth retardation, Crypto... ORPHA:397590
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cholestasis, Hepatosplenomegaly, Intrauterine growth retardation, Cryptorchidism, Splenomegaly, R... OMIM:614866
Hypothyroidism, Congenital, Nongoitrous, 4
Severe postnatal growth retardation, Decreased circulating T4 concentration, Hypothyroidism, Decr... OMIM:275100
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, Hepatic steatosis, 3-Methylglutaconic aciduria, Renal cyst... ORPHA:445038
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Protei... ORPHA:263455
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta... ORPHA:53035
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Intrauterine growth retardation, Cryptorchidism, Hypospadias, Mild sho... OMIM:614613
Caroli Syndrome
Intrahepatic cholestasis, Hypersplenism, Portal hypertension, Congenital hepatic fibrosis, Abnorm... ORPHA:480520
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Growth delay, Dehydration, Hypoglycemia OMIM:615453
Athyreosis
Short stature, Thyroid agenesis, Hypothyroidism, Growth delay ORPHA:95713
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Chronic Hiccup
Dehydration ORPHA:396
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... OMIM:615925
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Glycogen Storage Disease Ixc
Hypoglycemia, Postnatal growth retardation, Splenomegaly, Increased hepatic glycogen content, Cir... OMIM:613027
Bardet-Biedl Syndrome 9
Hyperglycemia, Renal insufficiency OMIM:615986
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Cryptorchidism, Prolonged neonatal jaundice, Hydronephrosis, Adrenal hypoplasia, A... OMIM:214100
Perlman Syndrome
Hyperinsulinemia, Hypoplasia of penis, Nephroblastoma ORPHA:2849
Beta-Ketothiolase Deficiency
Edema, Hypoglycemia, Hyperglycemia, Hepatomegaly, Dehydration ORPHA:134
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Intrauterine growth retardation, Nephroblastoma... ORPHA:314588
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II dia... OMIM:269200
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovaries, Increased c... OMIM:615363
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts OMIM:609180
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Distal Deletion 12Q
Annular pancreas, Maturity-onset diabetes of the young, Pituitary adenoma, Growth delay, Vesicour... ORPHA:96149
Odontochondrodysplasia 1
Short stature, Mesomelic short stature, Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Postnatal growth retardation, Hepatic steato... OMIM:616263
Trisomy 17P
Growth delay, Intrauterine growth retardation, Hydronephrosis, Short stature, Hypoplasia of penis... ORPHA:261290
Secondary Short Bowel Syndrome
Central hypothyroidism, Cholestasis, Primary hypothyroidism, Steatorrhea, Growth delay, Dehydration ORPHA:95427
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Intrauterine growth retardation, Hepatic steatosis, Polyhydramnios, Neonatal hypoglyc... OMIM:616271
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Hypogonadism, Hepatosplenomegaly, Abnormality of the liver,... ORPHA:231222
Rothmund-Thomson Syndrome, Type 1
Short stature, Male hypogonadism, Hypothyroidism OMIM:618625
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Nephrotic Syndrome, Type 1
Growth delay, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Diffuse mesangial ... OMIM:256300
Necrotizing Enterocolitis
Ascites, Hyperglycemia, Abnormal glucose homeostasis, Peritonitis, Edema ORPHA:391673
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Hypothyroidism, Hypercholesterolemia ORPHA:90065
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Hawkinsinuria
Hypothyroidism, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria ORPHA:2118
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea... OMIM:167800
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Neonatal death, Hepatomegaly, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis,... ORPHA:769
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Abnormal peritoneum morphology, Hypo... ORPHA:2126
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Macronodular cirrhosis, Pancreatic f... OMIM:557000
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Intrauterine growth retar... OMIM:269880
Pearson Syndrome
Growth delay, Glycosuria, Steatorrhea, Decreased response to growth hormone stimulation test, Exo... ORPHA:699
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Hepatic steatos... OMIM:243910
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Cryptorchidism, Neonatal death, Hydronephrosis, Renal cyst, Short... OMIM:613390
Thyroid Hypoplasia
Growth delay, Hypothyroidism, Short stature, Jaundice, Thyroid hypoplasia ORPHA:95720
Mpi-Cdg
Hepatic fibrosis, Portal hypertension, Hypothyroidism, Hyperinsulinemic hypoglycemia, Hepatomegaly ORPHA:79319
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:3085
Autoimmune Polyendocrinopathy Type 2
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... ORPHA:3143
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Glycosuria, Hypertonic dehydration OMIM:606824
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Postnatal growth retardatio... OMIM:248370
Chromosome 1P35 Deletion Syndrome
Short stature, Intrauterine growth retardation, Congenital hypothyroidism, Cryptorchidism OMIM:617930
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Postnatal growth... ORPHA:96179
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Dysbetalipoproteinemia
Hepatic steatosis, Hypothyroidism, Renal steatosis, Hepatomegaly, Acute pancreatitis, Diabetes me... ORPHA:412
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hepatosplenomegaly, Hepatic steatosis, Hypothyroidism, Short stature OMIM:619013
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
3-Hydroxy-3-Methylglutaric Aciduria
Dehydration, Recurrent hypoglycemia, Lipid accumulation in hepatocytes, Nonketotic hypoglycemia, ... ORPHA:20
Gne Myopathy
Hypothyroidism ORPHA:602
Hjv Or Hamp-Related Hemochromatosis
Hypogonadism, Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes... ORPHA:79230
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuffic... OMIM:260370
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Syndromic Diarrhea
Hepatic fibrosis, Renal hypoplasia, Abnormality of the liver, Intrauterine growth retardation, Sp... ORPHA:84064
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Adrenal calcific... ORPHA:289548
Isolated Atp Synthase Deficiency
Renal hypoplasia, Hypogonadism, 3-Methylglutaconic aciduria, Hypothyroidism, Hepatomegaly, Short ... ORPHA:254913
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type I diabetes mellitus, Hypogonadism, Delayed menarche, Type II diabetes mellitus, Hypothyroidi... ORPHA:412057
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Absence of secon... ORPHA:168558
Congenital Disorder Of Glycosylation, Type Ih
Cholestasis, Decreased circulating T4 concentration, Intrauterine growth retardation, Cryptorchid... OMIM:608104
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Oligohydramnios, Intrahepatic biliary atresia, N... OMIM:208085
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, Cryptorchidism OMIM:613970
Lig4 Syndrome
Type II diabetes mellitus, Cryptorchidism, Hypothyroidism, Hepatomegaly, Hypoplasia of penis, Gro... ORPHA:99812
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Growth delay, Cryptorchidism OMIM:619908
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Dehydration, Hypoglycemia OMIM:251110
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Renal insufficiency, Cryptorchidism, Hypothyroidism, Short stature, Hypoplasia ... ORPHA:85321
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Dehydration ORPHA:33355
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration OMIM:616069
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Decreased response to growth hormone stimulation test, Horseshoe kidney, Intrau... OMIM:609053
Galactokinase Deficiency
Increased level of galactitol in urine, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypogly... ORPHA:79237
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Ddost-Cdg
Nephrotic range proteinuria, Short stature, Hepatic steatosis, Primary hypothyroidism ORPHA:300536
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatic fibrosis, Recurrent urinary tract infections, Hyp... OMIM:619487
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism, Growth delay, H... OMIM:601427
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Hypothyroidism, Goiter ORPHA:83601
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... OMIM:603860
Maternal Uniparental Disomy Of Chromosome 9
Intrauterine growth retardation, Congenital hypothyroidism ORPHA:96183
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Unilateral renal agenesis, Renal hypoplasia, Disproportionate short-limb shor... OMIM:616541
Dilated Cardiomyopathy With Ataxia
Bilateral cryptorchidism, Intrauterine growth retardation, 3-Methylglutaconic aciduria, Microvesi... ORPHA:66634
Foxp1 Syndrome
Hypothyroidism, Diabetes mellitus, Abnormality of the kidney ORPHA:391372
Joubert Syndrome 18
Horseshoe kidney, Renal cyst, Intrahepatic biliary atresia, Intrauterine growth retardation OMIM:614815
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Hypoplasia of the ovar... OMIM:612885
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst, Diabetes mellitus OMIM:605231
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypogonadism, Low urinary cyclic AMP response to ... OMIM:103580
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Dehydration OMIM:264350
Autosomal Agammaglobulinemia
Hepatitis, Dehydration ORPHA:33110
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short stature, Hypoplasia of penis, Hypothyroidism ORPHA:2491
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased T3/T4 ratio, Growth delay, Impaired sensitivity to thyroid h... OMIM:614450
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Growth delay, Dehydration, Increased circulating renin l... OMIM:203400
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:90673
Cowden Syndrome 5
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615108
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Dehydration, I... OMIM:177735
Microform Holoprosencephaly
Renal agenesis, Panhypopituitarism, Intrauterine growth retardation, Hypothyroidism, Maternal dia... ORPHA:280200
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoglycemia, Intrauterine growth retardation, Proportionate short stature, Severe postnatal grow... ORPHA:391408
Developmental And Epileptic Encephalopathy 90
Hypothyroidism, Fetal pyelectasis OMIM:301058
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Dehydration OMIM:143880
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Hepatic fibrosis, Polycystic kidney dysplasia, Pancreatic fibrosis OMIM:263520
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia/aplasia, Multiple renal cysts, Short stature ORPHA:1166
Dend Syndrome
Hyperglycemia, Dehydration ORPHA:79134
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Postnatal growth retardation, I... ORPHA:96191
Tuberous Sclerosis Complex
Chronic kidney disease, Pituitary adenoma, Pheochromocytoma, Stage 5 chronic kidney disease, Rena... ORPHA:805
Central Diabetes Insipidus
Diabetes insipidus, Dehydration ORPHA:178029
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Proximal tubulopathy, Renal cyst, Cirrhosis, Hyperinsulinemic hypoglycemia, Hep... OMIM:602579
Alagille Syndrome 2
Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid... OMIM:610205
Dominant Beta-Thalassemia
Hepatic fibrosis, Growth delay, Hypopituitarism, Hepatosplenomegaly, Hypersplenism, Adrenal insuf... ORPHA:231226
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Dehydration, Hypoglycemia OMIM:246450
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Type I diabetes mellitus, Hypothyroidism, Hepatitis OMIM:304790
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Dystonia 28
Precocious puberty, Hypothyroidism, Short stature ORPHA:589618
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Dehydration, Increased circulating renin level OMIM:620126
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Hypoglycemic seizures, Growth delay, Hypoglycemia, Stage 5 chronic kidney disea... ORPHA:79259
Cowden Syndrome 6
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615109
Orofaciodigital Syndrome I
Hepatic fibrosis, Hepatic cysts, Ovarian cyst, Proteinuria, Short stature, Pancreatic cysts, Poly... OMIM:311200
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Short stature, Hypothyroidism, Hypohidrosis ORPHA:1882
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Stiff Person Spectrum Disorder
Hypothyroidism, Diabetes mellitus, Hyperhidrosis ORPHA:3198
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Glycosuria, Beta 2-microglobuli... ORPHA:97362
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Dehydration, Increased circulating renin level OMIM:620125
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Oculoskeletodental Syndrome
Renal agenesis, Splenomegaly, Cryptorchidism, Hypothyroidism, Mucopolysacchariduria, Hypercalciur... OMIM:618440
Axial Osteomalacia
Renal cyst, Polycystic liver disease OMIM:109130
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Stillbirth OMIM:263630
Duodenal Atresia
Polyhydramnios, Annular pancreas, Abnormality of the pancreas ORPHA:1203
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Hepatitis, Hypersplenism, Portal hypertension, Splenomegaly, Hashimoto ... OMIM:613385
Potocki-Lupski Syndrome
Short stature, Abnormal renal morphology, Hypothyroidism OMIM:610883
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hypothyroidism, Diabetes mellitus, Abnormality of the thyroi... ORPHA:77296
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Hypothyroidism, Short stature OMIM:607906
Congenital Tufting Enteropathy
Cholestatic liver disease, Dehydration, Steatorrhea ORPHA:92050
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short stature, Hypothyroidism, Delayed puberty ORPHA:2994
Lig4 Syndrome
Micropenis, Hypothyroidism, Type II diabetes mellitus, Cryptorchidism OMIM:606593
Familial Cold Urticaria
Hyperhidrosis, Dehydration ORPHA:47045
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased circulating T4 concentration, Abnormality of thyroid physiology, Reduced radioactive io... ORPHA:95715
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Neonatal hypoglycemia, Abnormal circulating dehydroepiandrosterone concentr... ORPHA:90794
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Hypothyroidism OMIM:619851
Bamforth-Lazarus Syndrome
Congenital hypothyroidism, Thyroid agenesis OMIM:241850
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Medullary nephrocalcinosis, Intrauterine g... ORPHA:363528
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... OMIM:613239
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Postnatal growth retardation, F... OMIM:227810
Galloway-Mowat Syndrome 10
Congenital hypothyroidism, Stage 5 chronic kidney disease, Podocyte foot process effacement, Prot... OMIM:619609
Glutaric Aciduria Iii
Glutaric aciduria, Hyperthyroidism, Goiter OMIM:231690
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Cholecystitis, Hypothyroidism, Jaundice, Abnormality of the ... ORPHA:69665
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Coach Syndrome 1
Hepatic fibrosis, Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cys... OMIM:216360
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Hepatic cysts, Ova... ORPHA:400
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic... OMIM:267010
Campomelia, Cumming Type
Multicystic kidney dysplasia, Multiple renal cysts, Hepatomegaly, Pancreatic cysts, Abnormality o... ORPHA:1318
Omenn Syndrome
Splenomegaly, Hypothyroidism, Hepatomegaly, Nephrotic syndrome, Thyroiditis ORPHA:39041
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Hepatic steatosis, Renal tubular acidosis, Neonatal death,... OMIM:614922
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Beta-Thalassemia Major
Hepatic fibrosis, Growth delay, Hypopituitarism, Hepatosplenomegaly, Hypersplenism, Adrenal insuf... ORPHA:231214
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Horseshoe kidney, Intrauterine growth retardation, Vesicouret... ORPHA:2470
4H Leukodystrophy
Decreased response to growth hormone stimulation test, Abnormality of thyroid physiology, Hypogon... ORPHA:289494
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Cholestasis, Postnatal growth retardation, Dark urine, Hepatic steatosis, P... ORPHA:79303
Methimazole Embryofetopathy
Hypothyroidism, Intrauterine growth retardation, Abnormality of the thyroid gland, Hypospadias ORPHA:1923
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona... OMIM:619377
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Pancreatic hypoplasia, Hyperglycemia, Intrauterine growth retardation, Absent gallbla... OMIM:600001
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hyperglycemia, Hepatomegaly, Growth delay, Dehydration ORPHA:3008
Cystic Fibrosis
Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirrhosis, Pancreatitis... OMIM:219700
Phelan-Mcdermid Syndrome
Hypohidrosis, Polycystic kidney dysplasia, Abnormality of the kidney, Vesicoureteral reflux OMIM:606232
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Dehydration OMIM:602722
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Meckel Syndrome 14
Hepatic fibrosis, Polycystic kidney dysplasia OMIM:619879
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Hypoth... OMIM:619234
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Dehydration, Hypoglycemia ORPHA:230
Allan-Herndon-Dudley Syndrome
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:300523
Cole Disease
Hyperglycemia OMIM:615522
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short stature, Hepatosplenomegaly, Hypothyroidism OMIM:619750
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Splenomeg... OMIM:232220
Melas
Nephropathy, Focal segmental glomerulosclerosis, Type I diabetes mellitus, Proximal tubulopathy, ... ORPHA:550
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... ORPHA:226313
Joubert Syndrome 20
Renal cyst OMIM:614970
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom... OMIM:607361
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Nephrotic syndrome, Intrauterine growth retardation, Hypothyroidism OMIM:617713
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Hepatitis, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Cirr... ORPHA:228426
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Hypothyroidism ORPHA:324737
Cowden Syndrome 1
Thyroid adenoma, Goiter, Ovarian carcinoma, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydroc... OMIM:158350
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Polyhydramnios, Hyperactive renin-angiotensin system, Growth delay, Dehydrati... OMIM:214700
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Hypoglycemia, Intrauterine growth retardation, Hypothyroidism, Short stature OMIM:618005
Shigellosis
Hypoglycemia, Cholestasis, Peritonitis, Splenic abscess, Dehydration ORPHA:810
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Neonatal death OMIM:602199
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Renal dysplasia OMIM:236500
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Hypopituitarism, Atretic gallbladder, Splenomegaly, Prolonged n... ORPHA:30391
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Proteinuria, Renal cyst... OMIM:208500
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Stillbirt... OMIM:615415
Immunodeficiency 102
Hepatomegaly, Nodular regenerative hyperplasia of liver, Hypothyroidism OMIM:301082
Multifocal Atrial Tachycardia
Hypothyroidism, Cryptorchidism ORPHA:3282
Fucosidosis
Abnormality of the gallbladder, Mucopolysacchariduria, Hypothyroidism, Hyperhidrosis, Hepatomegaly ORPHA:349
Bamforth-Lazarus Syndrome
Congenital hypothyroidism, Thyroid agenesis ORPHA:1226
B4Galt1-Cdg
Hepatomegaly, Hypothyroidism, Splenomegaly ORPHA:79332
Resistance To Thyrotropin-Releasing Hormone Syndrome
Growth delay, Increased circulating prolactin concentration, Decreased circulating T4 concentrati... ORPHA:99832
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Myoglobinuria, Hyperin... ORPHA:71212
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Postn... ORPHA:508
Von Hippel-Lindau Syndrome
Pheochromocytoma, Neoplasm of the pancreas, Multiple renal cysts, Renal cell carcinoma, Hepatic h... OMIM:193300
Transketolase Deficiency
Increased level of ribose in urine, Type I diabetes mellitus, Proportionate short stature, Renal ... ORPHA:488618
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intrauterine growth retardation, Extrahepatic biliary du... OMIM:601346
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypothyroidism OMIM:618829
19P13.12 Microdeletion Syndrome
Precocious puberty, Intrauterine growth retardation, Hepatic steatosis, Cryptorchidism, Hypothyro... ORPHA:254346
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,... ORPHA:95712
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the spleen, Abnormality of the liver, Abnormali... ORPHA:1834
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia OMIM:615812
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Adrenal calcification, Ascites, Hepatosplenomegaly, Hypersplenism, Primary adre... ORPHA:275761
Hypothyroidism, Congenital, Nongoitrous, 2
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased c... OMIM:218700
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Short stature, Renal dysplasia, Enlarged kidney OMIM:613091
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamartoma, Pancreatic ade... ORPHA:99880
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Polycystic ovaries, Diabetes... ORPHA:528
22Q11.2 Deletion Syndrome
Cholelithiasis, Renal hypoplasia, Intrauterine growth retardation, Vesicoureteral reflux, Cryptor... ORPHA:567
Ogden Syndrome
Growth delay, Decreased testicular size, Intrauterine growth retardation, Postnatal growth retard... OMIM:300855
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Hepatosplenomegaly, Hypothyroidism, Elevated hepatic iron co... ORPHA:300298
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Koolen-De Vries Syndrome
Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hydronephrosis, Hypothyroidism, Short s... ORPHA:96169
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Short statur... OMIM:618160
Congenital Short Bowel Syndrome
Steatorrhea, Dehydration OMIM:615237
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Intrauterine gr... OMIM:200980
Meckel Syndrome, Type 2
Renal cyst, Intrauterine growth retardation, Bile duct proliferation OMIM:603194
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism ORPHA:88643
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Hypoplasia of the bladder, Renal agen... OMIM:249000
14Q11.2 Microduplication Syndrome
Hypothyroidism ORPHA:261229
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hyperglycemia, Hepatic st... OMIM:124000
Cystinosis, Nephropathic
Male hypogonadism, Growth delay, Glycosuria, Exocrine pancreatic insufficiency, Splenomegaly, Pri... OMIM:219800
Parathyroid Carcinoma
Nephrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Renal ha... ORPHA:143
Martin-Probst Syndrome
Renal insufficiency, Cryptorchidism, Proteinuria, Chordee, Hypoplastic nipples, Hypothyroidism, M... OMIM:300519
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemia, Abnormal pancre... ORPHA:116
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Renal cyst, Multicystic kidney dysplasia, Congenital hepatic fibrosis ORPHA:2031
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema ORPHA:103910
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Isovaleric Acidemia
Dehydration OMIM:243500
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Decreased testicul... ORPHA:2970
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Intrauterine growth retardation, Jaundice, Hydrops fetalis, Growth delay, Dehydration ORPHA:79282
Scorpion Envenomation
Glycosuria, Hyperglycemia, Pulmonary edema, Hyperhidrosis, Acute pancreatitis, Edema ORPHA:466677
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Splen... ORPHA:2905
Smith-Magenis Syndrome
Precocious puberty, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypothyroidism, Delayed ... ORPHA:819
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Cryptorchidism, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Lamellar Ichthyosis
Short stature, Dehydration ORPHA:313
Brain-Lung-Thyroid Syndrome
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Megacystis, Congeni... ORPHA:209905
Meckel Syndrome, Type 10
Malformation of the hepatic ductal plate, Renal cyst, Micropenis, Hypospadias OMIM:614175
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Growth delay,... ORPHA:1830
Ring Chromosome 12 Syndrome
Glandular hypospadias, Breast hypoplasia, Cryptorchidism, Hypothyroidism, Growth delay ORPHA:1439
Autosomal Dominant Optic Atrophy, Classic Form
Hypogonadism, Hypothyroidism, Diabetes mellitus ORPHA:98673
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... OMIM:600740
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Premature adrenarche, Precocious puberty, Xerostomia, Central hypothyroidi... ORPHA:398079
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Dehydration OMIM:251100
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Renal cell carcinoma OMIM:135150
Hajdu-Cheney Syndrome
Cryptorchidism, Renal cyst, Short stature, Polycystic kidney dysplasia, Hypospadias OMIM:102500
Microsporidiosis
Hepatitis, Abnormality of the parathyroid gland, Dehydration, Abnormality of the spleen, Biliary ... ORPHA:2552
Neurooculorenal Syndrome
Ectopic posterior pituitary, Unilateral renal agenesis, Hypoplasia of the bladder, Central hypoth... OMIM:620305
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Seckel Syndrome 10
Insulin resistance, Severe short stature, Elevated circulating luteinizing hormone level, Glycosu... OMIM:617253
Vacterl/Vater Association
Hypospadias, Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Abnormalit... ORPHA:887
Alveolar Echinococcosis
Biliary cirrhosis, Abnormal mesentery morphology, Portal hypertension, Hepatic cysts, Abnormal bl... ORPHA:284
Atelosteogenesis Type I
Neonatal short-trunk short stature, Rhizomelia, Multiple renal cysts, Abnormal pancreatic duct mo... ORPHA:1190
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Proximal tubulopathy, Hepatic steatosis, Proteinuria, Renal cyst, Hypothyroidis... OMIM:212065
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Splenomegaly, Hypothyroidism, Growth delay, Thyroiditis OMIM:614700
Nephronophthisis 11
Hepatic fibrosis, Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Stage... OMIM:613550
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Type I diabetes mellitus, Hypothyroidism OMIM:620430
Atelis Syndrome 1
Hypothyroidism OMIM:620184
Meckel Syndrome, Type 4
Renal cyst, Intrauterine growth retardation, Bile duct proliferation OMIM:611134
Roberts Syndrome
Long penis, Postnatal growth retardation, Cryptorchidism, Severe intrauterine growth retardation,... ORPHA:3103
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism ORPHA:352530
Chromosome 2Q37 Deletion Syndrome
Short stature, Hypothyroidism OMIM:600430
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98754
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, 3-Methylglutaconic aciduria, Myoglobinuria, Hypothyroidism, Hepatomegaly OMIM:251900
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Elevated circulating parathyroid hormone level, Elevated circulating t... OMIM:101800
Aicardi-Goutieres Syndrome 1
Splenomegaly, Hepatomegaly, Hypothyroidism, Prolonged neonatal jaundice, Diabetes insipidus, Shor... OMIM:225750
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Pancreatitis, Dehydration ORPHA:90038
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Postnatal growth retardation, Cryptorchidism, Birth ... ORPHA:3404
Floating-Harbor Syndrome
Precocious puberty, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Growth dela... ORPHA:2044
Spondyloenchondrodysplasia
Chronic kidney disease, Hepatitis, Decreased response to growth hormone stimulation test, Hematur... ORPHA:1855
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Renal hypoplasia, Exocrine pancreatic insufficiency, Intraute... OMIM:620005
Intellectual Developmental Disorder, Autosomal Dominant 52
Hypothyroidism, Cryptorchidism, Bilateral cryptorchidism OMIM:617796
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Pr... ORPHA:79086
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cystic renal d... OMIM:200995
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the ureter, Abnormality of the ... ORPHA:2869
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Hepatosplenomegaly, Hypothyroidism, Thyroiditis OMIM:606367
Netherton Syndrome
Short stature, Dehydration ORPHA:634
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Meckel Syndrome, Type 6
Hepatic fibrosis, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Re... OMIM:612284
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Hyperaldosteronism, Polyhydramnios, Hyperactive renin-angiotensin system, Sh... OMIM:601678
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98793
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Type I diabetes mellitus, Hepatitis, Splenomegaly, Hypothyroidism, Membranous nephropathy, Hypert... ORPHA:37042
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... ORPHA:79474
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Hyperparathyroidism, Postnatal growth retardation OMIM:620366
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypothyroidism, Growth delay OMIM:226300
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177904
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Pallister-Hall Syndrome
Precocious puberty, Renal hypoplasia, Hydroureter, Growth delay, Decreased response to growth hor... OMIM:146510
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177901
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:99819
Cholera
Dehydration, Hypoglycemia ORPHA:173
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism, Short ... OMIM:618922
Immunodeficiency 31C
Growth delay, Splenomegaly, Hypothyroidism, Delayed puberty, Short stature, Hepatomegaly, Diabete... OMIM:614162
Pancreas, Annular
Annular pancreas OMIM:167750
Annular Pancreas
Annular pancreas ORPHA:675
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Whipple Disease
Hepatomegaly, Hypothyroidism, Splenomegaly, Insulin resistance ORPHA:3452
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f... OMIM:609152
Monosomy 18P
Short stature, Hypothyroidism ORPHA:1598
Tuberous Sclerosis 1
Precocious puberty, Renal angiomyolipoma, Renal cyst, Hypothyroidism, Renal cell carcinoma, Adeno... OMIM:191100
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypothyroidism, Renal insufficiency, Mild proteinuria, Growth delay OMIM:619147
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Mccune-Albright Syndrome
Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co... ORPHA:562
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Decreased response to growth hormone stimulation test, Intrauterine growth retardatio... OMIM:614114
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus ORPHA:2457
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gallbladder, Intr... ORPHA:2075
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:424
Harlequin Ichthyosis
Dehydration ORPHA:457
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Cryptorchidism, Hypothyroidism, Hypohidrosis, Hypoplasia of penis ORPHA:1812
Trisomy X
Precocious puberty, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Short stature, Hypothyroidism OMIM:617763
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia,... ORPHA:2255
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Autosomal Dominant Progressive External Ophthalmoplegia
Goiter, Abnormality of the liver, Glucose intolerance, Hypothyroidism, Hyperthyroidism, Nocturia,... ORPHA:254892
Familial Adenomatous Polyposis 4
Renal cyst, Thyroid adenoma, Ovarian cyst OMIM:617100
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Splenomegaly, Hypothyroidism, Micropenis, Short stature, Hepatomegaly, Hyposp... OMIM:613673
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Cholestasis, Hepatic steatosis, Cirrhosis, Hypothyroidism, Hepat... OMIM:615486
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Intrauterine growth retardation, Renal cyst, Short stature, Gro... OMIM:615583
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Intrauterine growth retardation, Cryptorchidism, Renal cyst, Short stature, Abn... ORPHA:166035
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Growth dela... ORPHA:411634
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Disproportionate short stature, Intrauterine growth retardation, Cryptorchidism... OMIM:210710
Tuberous Sclerosis 2
Precocious puberty, Adenoma sebaceum, Renal angiomyolipoma, Renal cyst, Hypothyroidism, Renal cel... OMIM:613254
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Precocious puberty, Xerostomia, Central hypothyroidism, Hypogonadism, Decr... ORPHA:398069
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypothyroidism, Diabetes mellitus, Hyperthyroidism ORPHA:449291
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Renal agenesis, Cryptorchidism, Short stature, Mater... OMIM:134780
Prader-Willi Syndrome
Small pituitary gland, Premature adrenarche, Precocious puberty, Decreased circulating gonadotrop... ORPHA:739
Allan-Herndon-Dudley Syndrome
Prolonged neonatal jaundice, Abnormality of thyroid physiology, Short stature, Cryptorchidism ORPHA:59
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Chronic kidney disease, Renal hypopla... ORPHA:84081
Peroxisome Biogenesis Disorder 1B
Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly OMIM:601539
Ohdo Syndrome, Sbbys Variant
Hypothyroidism, Hypospadias, Cryptorchidism OMIM:603736
Seckel Syndrome 7
Severe short stature, Intrauterine growth retardation, Central hypothyroidism OMIM:614851
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Hypoglycemia, Premature thelarche, Hypothyroidism, Myoglobinuria, Premature pubarche OMIM:616878
Bardet-Biedl Syndrome
Chronic kidney disease, Type II diabetes mellitus, Hepatic steatosis, Cryptorchidism, Polycystic ... ORPHA:110
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Intrauterine growth retardation, Disprop... OMIM:608022
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:616546
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Cenani-Lenz Syndrome
Crossed fused renal ectopia, Hypothyroidism, Renal hypoplasia/aplasia ORPHA:3258
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, P... ORPHA:247691
45,X/46,Xy Mixed Gonadal Dysgenesis
Bilateral cryptorchidism, Decreased serum testosterone concentration, Horseshoe kidney, Streak ov... ORPHA:1772
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Hypoglycemia OMIM:620423
Familial Adenomatous Polyposis
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Biliary t... ORPHA:733
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Intrauterine growth retardation, Multicystic kidney dysplasia, Cryptorchidism, Fetal megacystis ORPHA:73246
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Congenital hypothyroidism, Thyroid hypoplasia, Abnormality of the kidney, Nephrolithiasis ORPHA:521445
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... ORPHA:534
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Micropenis, Congenital hypothyroidism, Cryptorchidism, Supernumerary nipple ORPHA:2519
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Central hypothyroidism, Growth delay, Bilateral cryptorchidism, Decreased testicular size, Intrau... OMIM:300998
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Subcorneal Pustular Dermatosis
Hypothyroidism, Hyperthyroidism ORPHA:48377
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Diabetes insipidus, Hypertonic dehydration OMIM:304800
Zellweger Syndrome
Multicystic kidney dysplasia, Primary adrenal insufficiency, Cryptorchidism, Hydronephrosis, Shor... ORPHA:912
Bardet-Biedl Syndrome 17
Hypogonadism, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Nephrogenic diabetes insipidus, Hypertonic dehydration OMIM:125800
Marburg Hemorrhagic Fever
Hypoglycemia, Orchitis, Pancreatitis, Jaundice, Dehydration ORPHA:99826
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Growth delay, Glycosuria, Dehydration ORPHA:411629
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Elevated urinary catecholamine level, Adrenal pheochrom... ORPHA:892
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Type I diabetes mellitus, Functional abnormality of the bladder, Hepatitis, Hepatosplenomegaly, R... ORPHA:391487
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Cryptorchidism, Hypothyroidism, P... OMIM:618183
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Aplasia of the thymus, Hypothyroidism, Atypical or prolonged ... ORPHA:83471
Monosomy 18Q
Secondary growth hormone deficiency, Growth delay, Bilateral cryptorchidism, Hypothyroidism, Micr... ORPHA:1600
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hyperglycemia, Hypothyroidism, Short stature ORPHA:444077
Trisomy 13
Abnormality of the ureter, Intrauterine growth retardation, Cryptorchidism, Displacement of the u... ORPHA:3378
Fragile X Tremor/Ataxia Syndrome
Urinary incontinence, Hypothyroidism OMIM:300623
Distal Xq28 Microduplication Syndrome
Short stature, Hypothyroidism ORPHA:293939
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Bartter Syndrome, Type 3
Hyperaldosteronism, Hyperactive renin-angiotensin system, Dehydration, Increased circulating reni... OMIM:607364
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Urinary retention, Decreased urinary potassium, Hyper... ORPHA:79102
Harrod Syndrome
Intrauterine growth retardation, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism ORPHA:2115
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Intrauterine growth retardation, Vesicoureteral reflux, Cryptorchidism, Abnormal bladder morpholo... ORPHA:453499
Jung Syndrome
Hypothyroidism ORPHA:2321
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Exocrine pancreatic insufficiency, Splenomegaly, Hypoplastic nipples, Recurrent p... OMIM:618268
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Cryptorchid... ORPHA:488632
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Postnatal growth retardation, Intrauterine growth retardation, Cryp... OMIM:257300
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multiple renal cysts, Pancreatic cy... ORPHA:464329
Prader-Willi Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre... OMIM:176270
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hyperinsulinemia, Nephrolithiasis, Polycystic ovaries, Diabetes mellitus,... OMIM:608594
1P36 Deletion Syndrome
Annular pancreas, Hypogonadism, Abnormality of the spleen, Abnormality of the liver, Hepatic stea... ORPHA:1606
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Portal hypertension, Splenomegaly, Congenital hepatic ... ORPHA:1454
Mogs-Cdg
Hepatosplenomegaly, Hypothyroidism, Hepatomegaly, Inappropriate antidiuretic hormone secretion, H... ORPHA:79330
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating T4 concentration OMIM:603373
Myasthenia Gravis
Hepatitis, Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abn... ORPHA:589
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Kleefstra Syndrome
Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Renal insufficiency, Hydronephrosis,... ORPHA:261494
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... ORPHA:2973
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Renal cyst, Short stature, Renal dysplasia OMIM:617260
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia OMIM:613327
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Acute kidney injury, Nephronophthisis, Rhizomelia, Cholestasis, Hepatosplenomeg... OMIM:266920
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Thyroid adenoma, Ovarian dermoid cyst ORPHA:480536
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Severe short stature, Ectopic thyroid, Growth delay, Cryptorchidism, Thyroid agenesis, Hypothyroi... ORPHA:3047
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Long penis, Stillbirth, Horseshoe kidney, Postnatal growth retardation, Cryptor... OMIM:268300
Adiposis Dolorosa
Hypothyroidism, Xerostomia ORPHA:36397
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Primary Fanconi Renotubular Syndrome
Dehydration, Growth delay, Glycosuria, Hypoglycemia ORPHA:3337
Proximal Renal Tubular Acidosis
Glycosuria, Mild postnatal growth retardation, Short stature, Growth delay, Dehydration ORPHA:47159
Cutis Marmorata Telangiectatica Congenita
Intrauterine growth retardation, Multicystic kidney dysplasia, Hypothyroidism, Displacement of th... ORPHA:1556
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia, Microvesicular hepatic steatosis, Pulmonary edema, Increased hepatoc... OMIM:220111
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Nephrolithiasis, Polycystic ... OMIM:269700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria OMIM:615398
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Unilateral renal agenesis, Dilatation of the renal pelvis, Recurrent urinary tract infections, De... ORPHA:268261
Megalocornea-Intellectual Disability Syndrome
Short stature, Hypothyroidism ORPHA:2479
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Compensated hypothyroidism, Ketonuria, Hypoglycemia ORPHA:480864
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia, Hypogonadism OMIM:615989
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, C... ORPHA:49
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Hypospadias, Recurrent urinary tract infections, Decreased response to growth... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Hypospadias, Recurrent urinary tract infections, Decreased response to growth... ORPHA:363958
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Intrauterine growth retardation, Nephroblastoma, Hypothyroidism, Sh... ORPHA:1052
Lymphatic Malformation 6
Short stature, Hypothyroidism, Hydrocele testis, Splenomegaly OMIM:616843
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polyhydramnios, Nephrogenic diabetes insipidus, Short stature, Growth ... ORPHA:223
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatic fibrosis, Hypospadias, Exocrine pancreatic insufficiency, Intra... OMIM:243800
Aceruloplasminemia
Elevated hepatic iron concentration, Abnormal pancreas morphology, Diabetes mellitus ORPHA:48818
Acute Monoblastic/Monocytic Leukemia
Oliguria, Central hypothyroidism ORPHA:514
Aicardi-Goutieres Syndrome 7
Hepatitis, Intrauterine growth retardation, Splenomegaly, Hepatic steatosis, Hypothyroidism, Hepa... OMIM:615846
Pseudoxanthoma Elasticum
Nephrocalcinosis, Hypothyroidism ORPHA:758
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Intrauterine growth retardation, Cryptorchidism, Hydronep... ORPHA:464311
Alternating Hemiplegia Of Childhood
Hyperhidrosis, Dehydration ORPHA:2131
D-Bifunctional Protein Deficiency
Cholestasis, Primary adrenal insufficiency, Hepatic steatosis, Splenomegaly, Renal cyst, Hepatome... OMIM:261515
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Low-molecular-weight protein... ORPHA:18
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Intrauterine growth retardation, Vesicoureteral reflux, Cryptorchidism, Renal c... OMIM:616975
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Renal insufficiency, Hepatic s... OMIM:188400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciur... ORPHA:369837
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology, Hydronephrosis, Unilateral breast hypoplasia, Short stature, R... OMIM:300968
Spondyloenchondrodysplasia With Immune Dysregulation
Short stature, Hypothyroidism, Tubulointerstitial fibrosis OMIM:607944
Mosaic Trisomy 9
Horseshoe kidney, Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Multiple renal... ORPHA:99776
Intellectual Developmental Disorder, X-Linked 98
Urinary incontinence, Postnatal growth retardation, Central hypothyroidism, Steroid-dependent nep... OMIM:300912
Alexander Disease
Precocious puberty, Hypothyroidism, Diabetes mellitus, Hyperhidrosis ORPHA:58
Renal Hypoplasia
Dehydration ORPHA:93101
Fryns Syndrome
Ectopic pancreatic tissue, Renal agenesis, Polysplenia, Cryptorchidism, Hydronephrosis, Renal cys... OMIM:229850
Trisomy 1Q
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis, Cryptorchidism ORPHA:261344
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... ORPHA:249
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Glandular hypospadias, Cryptorchidism, Renal hypoplasia/aplasia, Ur... ORPHA:2473
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Meckel Syndrome
Accessory spleen, Multicystic kidney dysplasia, Cryptorchidism, Congenital hepatic fibrosis, Uret... ORPHA:564
2Q37 Microdeletion Syndrome
Short stature, Multicystic kidney dysplasia, Nephroblastoma, Supernumerary nipple ORPHA:1001
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Growth delay OMIM:619980
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... OMIM:277000
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Breast hypoplasia, Intrauterine growth retardation, Crypt... ORPHA:464306
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Congenital hypothyroidism, Intrauterine growth retardation, Aplasia of the thymus,... OMIM:620186
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypothyroidism, Micropenis, Short stature, Prolonged neonatal jaundice, Diabe... ORPHA:51
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, Hypothyroidism, Duplication of renal pelvis ORPHA:457212
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Duplicated collecting system, Renal hypoplasia, Multiple smal... OMIM:118450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Hypothyroidism, Hype... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Hypothyroidism, Hype... ORPHA:352665
Neuroleptic Malignant Syndrome
Hyperhidrosis, Dehydration ORPHA:94093
Alkaptonuria
Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Black pigment gallstones, Nephroli... ORPHA:56
Hallermann-Streiff Syndrome
Hypothyroidism, Cryptorchidism, Abdominal situs inversus, Proportionate short stature ORPHA:2108
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Hypothyroidism, Hypohidrosis, Hyperhidrosis, Short stature, Ecto... ORPHA:3206
Atelis Syndrome 2
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration OMIM:620185
Bartter Syndrome, Type 2, Antenatal
Hyperaldosteronism, Polyhydramnios, Hyperactive renin-angiotensin system, Short stature, Dehydrat... OMIM:241200
Bartter Syndrome Type 4
Hyperaldosteronism, Polyhydramnios, Hyperactive renin-angiotensin system, Dehydration, Increased ... ORPHA:89938
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Hypogonadism, Decreased testicular size, Intr... ORPHA:261349
Phace Association
Congenital hypothyroidism, Lingual thyroid OMIM:606519
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Schinzel-Giedion Syndrome
Central hypothyroidism, Annular pancreas, Abnormality of the ureter, Streak ovary, Nephroblastoma... ORPHA:798
Williams-Beuren Syndrome
Renal hypoplasia, Enuresis, Nephrocalcinosis, Recurrent urinary tract infections, Intrauterine gr... OMIM:194050
Cornelia De Lange Syndrome 1
Renal hypoplasia, Intrauterine growth retardation, Reduced renal corticomedullary differentiation... OMIM:122470
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Polysplenia, Supernumerary nipple, Hypoglycemia, Crypt... ORPHA:373
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Hydr... OMIM:618454
Oligomeganephronia
Dehydration ORPHA:2260
Trisomy 20P
Abnormal localization of kidney, Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Multi... ORPHA:261318
Abetalipoproteinemia
Hepatic fibrosis, Hepatic steatosis, Hypothyroidism, Cirrhosis, Hepatomegaly ORPHA:14
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Short stature, Cryptorchidism ORPHA:85201
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Hyperthyroidism, Increased circulating prolactin concentration OMIM:617675
Colchicine Poisoning
Dehydration ORPHA:31824
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Breast hypoplasia, Intrauterine growth ret... ORPHA:506358
Joubert Syndrome 1
Nephropathy, Hepatic fibrosis, Renal cyst OMIM:213300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Renal hypoplasia, Cryptorchidism, Renal cyst, Stillbirth OMIM:616300
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Intrauterine growth retardation, Hydronephrosis, Sh... ORPHA:1297
Townes-Brocks Syndrome
Hypospadias, Renal hypoplasia, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, Hypoth... ORPHA:857
Joubert Syndrome 14
Renal cyst, Growth delay OMIM:614424
Williams Syndrome
Type II diabetes mellitus, Cryptorchidism, Polycystic ovaries, Precocious puberty, Cholelithiasis... ORPHA:904
White-Kernohan Syndrome
Horseshoe kidney, Hydronephrosis, Hypothyroidism, Hydroureter OMIM:619426
Rothmund-Thomson Syndrome Type 1
Hypogonadism, Cryptorchidism, Hypothyroidism, Short stature, Growth delay ORPHA:221008
Netherton Syndrome
Hypernatremic dehydration, Angioedema OMIM:256500
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Renal hypoplasia, Intrauterine growth retardation, Splenomegaly, Neonatal de... OMIM:269860
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Exocrine pancreatic insufficiency, Renal insufficiency, Proteinuria... ORPHA:2750
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Short stature, Growth delay, Hyperthyroidism, Increased circulating prolactin concentration ORPHA:502423
Sarcoidosis
Nephrocalcinosis, Diabetes insipidus, Parotitis, Enlargement of parotid gland, Portal hypertensio... ORPHA:797
Neuhauser Syndrome
Short stature, Primary hypothyroidism OMIM:249310
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism, Pollakisuria, Urinary bladder sphincter dysfunction ORPHA:93256
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of the spleen, Crosse... ORPHA:2538
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism ORPHA:98808
Turner Syndrome Due To Structural X Chromosome Anomalies
Horseshoe kidney, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Renal hypopla... ORPHA:99413
Mosaic Monosomy X
Horseshoe kidney, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Renal hypopla... ORPHA:99228
Monosomy X
Horseshoe kidney, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Renal hypopla... ORPHA:99226
Turner Syndrome
Horseshoe kidney, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Renal hypopla... ORPHA:881
Peters Plus Syndrome
Multicystic kidney dysplasia, Rhizomelia, Disproportionate short-limb short stature, Postnatal gr... ORPHA:709
Marden-Walker Syndrome
Abnormal penis morphology, Severe short stature, Multicystic kidney dysplasia, Abnormality of the... ORPHA:2461
Histiocytoid Cardiomyopathy
Hepatomegaly, Renal cyst, Hypoglycemia, Polycystic ovaries ORPHA:137675
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent urinary trac... ORPHA:79404
Ring Chromosome 13 Syndrome
Growth delay, Primary hypothyroidism, Urogenital sinus anomaly, Hypoplasia of the gallbladder, Mi... ORPHA:96176
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Increased circulating prolactin concentration, Vesicoureteral reflux, Cryptor... ORPHA:438213
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacystis ORPHA:2241
Jacobsen Syndrome
Multicystic kidney dysplasia, Annular pancreas, Intrauterine growth retardation, Cryptorchidism, ... ORPHA:2308
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst, Short stature OMIM:250410
Charge Syndrome
Renal hypoplasia, Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Renal agenesis, Decre... OMIM:214800
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Cranioectodermal Dysplasia 2
Rhizomelia, Portal fibrosis, Biliary cirrhosis, Polysplenia, Cholestasis, Renal insufficiency, Sp... OMIM:613610
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Precocious puberty, Renal hypoplasia, Duplicated collecting system, Un... OMIM:270400
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus ORPHA:563
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Intrauterine growth retardation, Vesicoureteral reflux, Hydronephrosis, Renal c... OMIM:618460
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency OMIM:608091
Acrocardiofacial Syndrome
Intrauterine growth retardation, Cryptorchidism, Hyperthyroidism, Hypoplasia of penis, Hypospadias ORPHA:2008
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Distal Deletion 15Q
Multicystic kidney dysplasia, Growth delay, Postnatal growth retardation, Intrauterine growth ret... ORPHA:1596
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Cryptorchidism ORPHA:3301
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Steinert Myotonic Dystrophy
Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec... ORPHA:273
Kabuki Syndrome 1
Growth delay, Postnatal growth retardation, Congenital hypothyroidism, Crossed fused renal ectopi... OMIM:147920
Cerebrotendinous Xanthomatosis
Prolonged neonatal jaundice, Cholelithiasis, Hypothyroidism ORPHA:909
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Fryns Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Hypospadias ORPHA:2059
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal hypoplasia, Renal insufficiency, Cryptorchidism, Vesicoureter... OMIM:107480
Intellectual Developmental Disorder, Autosomal Dominant 42
Congenital hypothyroidism, Ureteropelvic junction obstruction, Hydronephrosis, Neurogenic bladder... OMIM:616973
Coffin-Siris Syndrome 12
Horseshoe kidney, Cryptorchidism, Hypothyroidism, Short stature, Hypospadias OMIM:619325
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Decreased circulating T4 concentration, Hepatospleno... ORPHA:64
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Multiple renal cysts ORPHA:220460
Sotos Syndrome
Hypospadias, Renal agenesis, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, Ureterop... ORPHA:821
Microphthalmia, Syndromic 2
Adrenal insufficiency, Cryptorchidism, Hypothyroidism, Short stature, Hypospadias OMIM:300166
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Pagod Syndrome
Multicystic kidney dysplasia, Abnormality of the spleen, Renal hypoplasia/aplasia, Abnormal testi... ORPHA:991
Trisomy 10P
Intrauterine growth retardation, Absent gallbladder, Multiple renal cysts, Abnormality of the kid... ORPHA:171929
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Congenital hypothyroidism, Palmoplantar hyperhidrosis OMIM:617527
Genitopatellar Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Hypothyroidism, Micropenis OMIM:606170
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Alobar Holoprosencephaly
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... ORPHA:93924
Semilobar Holoprosencephaly
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... ORPHA:220386
Joubert Syndrome 21
Renal cyst, Splenomegaly, Hyperechogenic kidneys OMIM:615636
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Rhizomelia, Growth delay, Abnormal... ORPHA:818
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation OMIM:617107
Microphthalmia, Syndromic 6
Abnormality of the hypothalamus-pituitary axis, Renal hypoplasia, Cryptorchidism, Hypothyroidism,... OMIM:607932
Chromosome 1P36 Deletion Syndrome, Distal
Growth delay, Congenital hypothyroidism, Cryptorchidism, Hypothyroidism, Ectopic kidney, Hypospadias OMIM:607872
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Renal insufficiency OMIM:617478
Down Syndrome
Type II diabetes mellitus, Renal hypoplasia/aplasia, Delayed puberty, Hyperthyroidism, Short stature ORPHA:870
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Primrose Syndrome
Bilateral cryptorchidism, Glucose intolerance, Cryptorchidism, Hypothyroidism, Delayed puberty, S... OMIM:259050
Hajdu-Cheney Syndrome
Splenomegaly, Multiple renal cysts, Delayed puberty, Short stature, Hepatomegaly, Hypospadias ORPHA:955
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Congenital hypothyroidism, Disproportionate short-limb short stature, Rhizomelia OMIM:271510
Focal Dermal Hypoplasia
Horseshoe kidney, Multicystic kidney dysplasia, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:2092
Liver Disease, Severe Congenital
Aminoaciduria, Recurrent urinary tract infections, Hyperechogenic kidneys, Hydronephrosis, Hyperi... OMIM:619991
Bilateral Polymicrogyria
Central hypothyroidism ORPHA:268940
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Decreased serum testosterone concentration, Cryptorch... ORPHA:97360
Down Syndrome
Short stature, Hypothyroidism OMIM:190685
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Disproportionate short-limb short stature, Cryptorchidism, Hydronep... ORPHA:1507
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney, Postnatal growth retardation OMIM:117650
Sponastrime Dysplasia
Precocious puberty, Rhizomelia, Disproportionate short-limb short stature, Intrauterine growth re... ORPHA:93357
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Polysplenia, Supernumerary nipple, Cryptorchidism, Pancreatic islet-... OMIM:312870
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Decreased serum testosterone concentration, Renal cyst, Hypospadias, Cryptorchidism ORPHA:495875
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Disproportionate short-limb short stature, Cryptorchidism, Congenital hepatic f... ORPHA:93271
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Intrauterine growth retardation, Absent gal... ORPHA:3310
Lymphangioleiomyomatosis
Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm ORPHA:538
Cerebrocostomandibular Syndrome
Short stature, Intrauterine growth retardation, Multicystic kidney dysplasia ORPHA:1393
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Intrauterine growth retardation, Renal insufficiency, Cryptorchidis... ORPHA:199
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Growth delay, Renal agenesis, Cryptorchi... OMIM:308205
Wiedemann-Rautenstrauch Syndrome
Growth delay, Increased circulating prolactin concentration, Recurrent urinary tract infections, ... ORPHA:3455
Pmm2-Cdg
Insulin resistance, Elevated circulating thyroid-stimulating hormone concentration, Increased cir... ORPHA:79318
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney ORPHA:500095
Spondylocarpotarsal Synostosis Syndrome
Renal cyst, Disproportionate short-trunk short stature OMIM:272460
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Cryptorchidism, Renal hypoplasia/aplasia, Short s... ORPHA:1308
Leukocyte Adhesion Deficiency
Glomerulonephritis, Hyperinsulinemic hypoglycemia, Hemolytic-uremic syndrome, Recurrent urinary t... ORPHA:2968
Branchiooculofacial Syndrome
Renal agenesis, Supernumerary nipple, Ectopic thymus tissue, Postnatal growth retardation, Intrau... OMIM:113620
Osteopathia Striata With Cranial Sclerosis
Short stature, Multicystic kidney dysplasia OMIM:300373
Proteus Syndrome
Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarge... ORPHA:744
Viss Syndrome
Hydronephrosis, Hypothyroidism, Short stature OMIM:619472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Decreased testicular size, Multicystic kidney dysplasia, Micropenis OMIM:615287
Pallister-Killian Syndrome
Rhizomelia, Growth delay, Stillbirth, Supernumerary nipple, Mesomelic/rhizomelic limb shortening,... OMIM:601803
Mowat-Wilson Syndrome
Webbed penis, Multicystic kidney dysplasia, Growth delay, Vesicoureteral reflux, Cryptorchidism, ... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Cryptorchidism, Renal duplicat... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Vesicoureteral reflux, C... ORPHA:261552
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr... OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Glis3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Glis3.

No publications found that use IMPC mice or data for Glis3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Glis3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Glis3tm82792(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter