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Gene: Glis3 MGI:2444289

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci... OMIM:610199

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... OMIM:262700
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pituitary Dwarfism With Large Sella Turcica
Growth delay, Pituitary dwarfism, Hypothyroidism, Decreased response to growth hormone stimulatio... OMIM:262710
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... OMIM:145001
Wolfram-Like Syndrome
Diabetes mellitus, Abnormality of the upper urinary tract, Severe postnatal growth retardation, G... ORPHA:411590
Congenital Atransferrinemia
Abnormality of the pancreas, Hypothyroidism ORPHA:1195
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Hyperglycemia, Transient neonatal diabetes mellitus, Dehydration OMIM:601410
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Thyroid Hormone Metabolism, Abnormal, 1
Increased circulating free T4 concentration, Short stature, Elevated circulating thyroid-stimulat... OMIM:609698
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test, Short ... OMIM:300123
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, De... ORPHA:99886
Campomelia, Cumming Type
Polycystic liver disease, Short stature, Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia OMIM:211890
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Essential Fructosuria
Abnormal urine carbohydrate level, Hyperglycemia ORPHA:2056
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... ORPHA:552
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria OMIM:606528
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Thyroid Hormone Metabolism, Abnormal, 3
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... OMIM:620198
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... OMIM:231680
Thyroid Dyshormonogenesis 5
Growth delay, Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Growth delay, Hypothyroidism, Goiter OMIM:274800
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Fasting hyperin... ORPHA:35878
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... OMIM:262190
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Short stature, Hyperlipidemia ORPHA:329249
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... OMIM:615710
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Hyperlipidemia, H... OMIM:232700
Familial Renal Glucosuria
Recurrent urinary tract infections, Insulin resistance, Abnormal circulating insulin concentratio... ORPHA:69076
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci... OMIM:610199
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Hypoglycemia, Cryptorchidism, Dehydration, Intrauterine growth retardation OMIM:618958
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... ORPHA:1227
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus,... OMIM:604367
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst OMIM:615987
Donohue Syndrome
Postnatal growth retardation, Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, He... OMIM:246200
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Malformation of the hepatic ductal plat... OMIM:208540
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Post... ORPHA:453533
Joubert Syndrome 26
Short stature, Decreased response to growth hormone stimulation test, Central hypothyroidism, Mic... OMIM:616784
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Enteric Anendocrinosis
Type I diabetes mellitus, Cholestatic liver disease, Portal hypertension, Dehydration ORPHA:83620
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... ORPHA:3032
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Growth delay, Hypogonadism... ORPHA:3363
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoplasia of penis, Short stature, Hypoglycemia, Adrenal hypoplasia... ORPHA:95496
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dehydration ORPHA:79159
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... ORPHA:276608
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Neonatal hypoglycemia, Adrenocortical carcinoma, Pancrea... OMIM:130650
Femoral-Facial Syndrome
Short stature, Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal ... ORPHA:1988
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria OMIM:618857
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Diabetes mellitus, Hypospadias, Renal insufficiency... ORPHA:93111
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Episodic hyperhidro... ORPHA:276580
Mpdu1-Cdg
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:79323
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
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 Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Episodic hyperhidrosis, Hyperinsulinem... ORPHA:276575
Galloway-Mowat Syndrome 6
Short stature, Decreased response to growth hormone stimulation test, Proteinuria, Growth delay, ... OMIM:618347
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age... ORPHA:2237
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Hypoglycemia, Mesangial hypercellularity, Cryptorchidis... OMIM:617575
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas ORPHA:2924
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Re... OMIM:615993
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Propionic Acidemia
Hepatomegaly, Short stature, Hypoglycemia, Dehydration, Pancreatitis OMIM:606054
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... OMIM:619902
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ... OMIM:301035
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Hepatomegaly, Renal cyst OMIM:614870
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts OMIM:173900
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration OMIM:615999
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis, Dehydration ORPHA:79312
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Short stature, Hypothyroidism OMIM:275120
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Dehydration, Recurrent hypoglycemia, Impaired glu... OMIM:212140
Mahvash Disease
Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel... OMIM:619290
Precocious Puberty, Central, 1
Short stature, Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Elev... OMIM:176400
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ... OMIM:613095
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Pancreatitis, Dehydration OMIM:251000
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Dehydration ORPHA:28
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Crypto... ORPHA:90791
Wolcott-Rallison Syndrome
Hepatomegaly, Short stature, Neonatal insulin-dependent diabetes mellitus, Jaundice, Dehydration,... ORPHA:1667
Thyroid Dyshormonogenesis 1
Growth delay, Hypothyroidism, Goiter OMIM:274400
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyperglycemia, Pancreati... OMIM:609069
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Dehydration, Glycosuria, Intrauterine growth retard... ORPHA:99885
Polyendocrine-Polyneuropathy Syndrome
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Hypoglycemia, Postna... OMIM:616113
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Hepatosplenomegaly, Nephrotic syndrome, Membranou... OMIM:618999
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Diabetes mellitus, Short stature, Renal insufficiency, Renal hypopl... ORPHA:261265
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Dehydration ORPHA:289504
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Glutaric aciduria, Lacticaciduria, 3-Methylglutar... ORPHA:26791
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... ORPHA:71526
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Dehydration ORPHA:27
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... ORPHA:276556
Renal Cysts And Diabetes Syndrome
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, R... OMIM:137920
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Rhyns Syndrome
Hypopituitarism, Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... OMIM:613038
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia OMIM:604484
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly OMIM:608776
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... ORPHA:280356
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul... ORPHA:157
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Abnormal response to glucagon stimulation test... ORPHA:79644
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... ORPHA:293964
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Pendred Syndrome
Hyperparathyroidism, Thyroid carcinoma, Nephropathy, Hypothyroidism, Goiter ORPHA:705
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Abnormal testis m... ORPHA:791
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Renal cyst OMIM:174050
C Syndrome
Hepatomegaly, Short stature, Renal cortical cysts, Cryptorchidism OMIM:211750
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Short stature, Hepatosplenomegaly, Delayed puberty, Type I diabetes mellitus, Hypothyroidism, Exo... OMIM:615952
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Generalized Pseudohypoaldosteronism Type 1
Proportionate short stature, Glucocortocoid-insensitive primary hyperaldosteronism, Dehydration, ... ORPHA:171876
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketonuria, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:151660
Insulin-Resistance Syndrome Type B
Proteinuria, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin resi... ORPHA:2298
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Cystinosis
Short stature, Portal hypertension, Nephrogenic diabetes insipidus, Dehydration, Delayed puberty,... ORPHA:213
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism, Jaundice, Short stature ORPHA:2349
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia OMIM:620195
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated... ORPHA:97282
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Hypoglycemia, Nonketoti... OMIM:608836
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Hepatomegaly, Dehydration OMIM:560000
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Intrauterine growth retardation, Hyperglycemia, Diabetes mellitus OMIM:606176
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser... ORPHA:465508
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Cryptorchidism, Renal hypoplasia, Growth delay, Recurrent hypoglycemia, Delayed pu... OMIM:616817
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Isolated Sedoheptulokinase Deficiency
Short stature, Portal hypertension, Hepatitis, Cholestasis, Severe postnatal growth retardation, ... ORPHA:440713
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne... OMIM:113650
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Polycystic kidney dysplasia OMIM:263210
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious puberty, Crypt... OMIM:614736
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Aminoaciduria, Hypoplasi... OMIM:214110
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Growth delay, ... ORPHA:2088
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Mosaic Trisomy 1
Hepatic agenesis, Renal cortical cysts, Renal cyst, Micropenis, Penile hypospadias ORPHA:1692
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Dehy... OMIM:610600
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Short stature, Hypohidrosis, Nephropathy, Hypothyroidism ORPHA:1563
Trichohepatoenteric Syndrome 1
Hepatomegaly, Short stature, Hypospadias, Splenomegaly, Abnormality of the pancreas, Jaundice, Ch... OMIM:222470
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Hepatic calcification,... ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 54
Intrauterine growth retardation, Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, Abnormality of the kidney, Renal cyst OMIM:615982
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Short stature, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dys... OMIM:614091
Wolfram Syndrome 1
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Growth delay, Hypothyroid... OMIM:222300
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Insulin resistance, Dehydration OMIM:214150
Potocki-Shaffer Syndrome
Micropenis, Hypothyroidism, Nephroblastoma, Delayed puberty ORPHA:52022
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Hypospadias, Short stature, Supernumerary nipple, Rhizomelic leg shortening,... ORPHA:397715
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Li-Campeau Syndrome
Cryptorchidism, Micropenis, Short stature, Hypothyroidism OMIM:619189
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pan... ORPHA:456312
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Necrotizing Enterocolitis
Edema, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia, Ascites ORPHA:391673
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Abnormal circulating corticosterone level, Dehydration, Elevated se... ORPHA:556030
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Splenomegaly, Gro... OMIM:613027
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr... OMIM:240300
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Abnormality of... ORPHA:480520
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased thyroid-stimulating hormone level, Severe postnatal growth retardation, Hypothyroidism,... OMIM:275100
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... ORPHA:3085
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Renal insufficiency, Renal cyst, Growth delay, Nephrocalcinosis, 3-Methylgluta... ORPHA:445038
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Jaundice, Splenomegal... OMIM:614866
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Hyperinsulinemia, Glycosuria, Renal Fanconi syndrome, Pancreatic islet-cell hyperpla... ORPHA:263455
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... OMIM:615925
Athyreosis
Growth delay, Hypothyroidism, Short stature, Thyroid agenesis ORPHA:95713
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Hawkinsinuria
Hypothyroidism, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria ORPHA:2118
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Chronic Hiccup
Dehydration ORPHA:396
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Bardet-Biedl Syndrome 9
Renal insufficiency, Hyperglycemia OMIM:615986
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Hyperglycemia, Hypoglycemia, Dehydration OMIM:615453
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Adrenal hypoplasia, Cryptorchidism, A... OMIM:214100
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom... ORPHA:730
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts OMIM:609180
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301033
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Abnormality of the urethra, Cryptorchidism, Hypogonadotropic hypogonadism, Hypothyroidism ORPHA:752
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
Distal Deletion 12Q
Diabetes mellitus, Unilateral cryptorchidism, Short stature, Maturity-onset diabetes of the young... ORPHA:96149
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... ORPHA:231222
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Hypoglycemia, Postnatal growth retardation, Cryptorchidism, Microphallus, Intrauteri... ORPHA:397590
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Impaired glucose tolerance, Postnatal growth retardation, Insulin-resistant diabete... OMIM:248370
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Edema, Dehydration, Hyperglycemia ORPHA:134
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Polyhydramnios, Dehydration, Growth delay, Intrauterine growth retardation, Hepatic s... OMIM:616271
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Trisomy 17P
Hypoplasia of penis, Urethral valve, Short stature, Urethral stenosis, Growth delay, Polycystic k... ORPHA:261290
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion... OMIM:167800
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Odontochondrodysplasia 1
Mesomelic short stature, Short stature, Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Secondary Short Bowel Syndrome
Cholestasis, Central hypothyroidism, Growth delay, Dehydration, Primary hypothyroidism, Steatorrhea ORPHA:95427
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Short stature, Hypothyroidism OMIM:618625
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Birth length less than 3rd percentile, O... OMIM:269880
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Gro... OMIM:256300
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Hydrocele testis, Po... ORPHA:314588
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo... ORPHA:2126
Rabson-Mendenhall Syndrome
Enlarged ovaries, Short stature, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, ... ORPHA:769
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal growth retardation... OMIM:616263
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Decreased response to g... ORPHA:699
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hypospadias, Cryptorchidism, Congenital hypothyroidism, Mild short stature, In... OMIM:614613
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Pancreatic fibrosis, Hydrops fetalis, Macronodular cirrhosis, Dehydration, Steatorr... OMIM:557000
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Growth delay, Hematuria, Ren... OMIM:243910
Thyroid Hypoplasia
Short stature, Jaundice, Growth delay, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia OMIM:613730
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Alstrom Syndrome
Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Short stature, Decreased response to... OMIM:203800
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... OMIM:613159
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Hypertonic dehydration, Glycosuria OMIM:606824
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp... ORPHA:79230
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Renal steatosis, Hepatic ste... ORPHA:412
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera... ORPHA:96179
Gne Myopathy
Hypothyroidism ORPHA:602
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Edema, Jaundice, Lipid accumulation in... ORPHA:20
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficiency, Oligohydramnios,... OMIM:260370
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Elevated circulating luteinizing hor... ORPHA:289548
Syndromic Diarrhea
Hepatomegaly, Short stature, Splenomegaly, Renal hypoplasia, Abnormality of the liver, Hypoplasia... ORPHA:84064
Fanconi Anemia, Complementation Group O
Short stature, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydron... OMIM:613390
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
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... ORPHA:168558
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Delayed menarche, Hypothyroidi... ORPHA:412057
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Short stature, Hepatosplenomegaly, Hypopituitarism, Hypothyroidism OMIM:619013
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation, Nephrogenic diabetes insipidus... OMIM:208085
Pseudohypoparathyroidism, Type Ic
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyr... OMIM:612462
Isolated Atp Synthase Deficiency
Hepatomegaly, Short stature, Renal hypoplasia, 3-Methylglutaconic aciduria, Hypogonadism, Hypothy... ORPHA:254913
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Growth delay, Glucose into... OMIM:608612
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Dehydration OMIM:264350
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Cholestasis, Neonatal death, Decreased circulating T4 concentration... OMIM:608104
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Growth delay, Type II diabetes mellitus, Hypot... ORPHA:99812
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Acute pancreatitis, Renal insufficiency, Recurrent urinary tract infections, Protei... OMIM:619487
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:612885
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration OMIM:616069
Fanconi Anemia, Complementation Group I
Short stature, Decreased response to growth hormone stimulation test, Abnormal renal morphology, ... OMIM:609053
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Dehydration ORPHA:33355
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, Renal cyst OMIM:605231
Galactokinase Deficiency
Increased level of galactitol in urine, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypogly... ORPHA:79237
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Growth delay, Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congeni... OMIM:601427
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Ddost-Cdg
Primary hypothyroidism, Hepatic steatosis, Nephrotic range proteinuria, Short stature ORPHA:300536
Maternal Uniparental Disomy Of Chromosome 9
Intrauterine growth retardation, Congenital hypothyroidism ORPHA:96183
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Perineal hypospa... ORPHA:66634
Joubert Syndrome 18
Intrauterine growth retardation, Intrahepatic biliary atresia, Renal cyst, Horseshoe kidney OMIM:614815
Corticosterone Methyloxidase Type I Deficiency
Growth delay, Decreased circulating aldosterone level, Increased circulating renin level, Dehydra... OMIM:203400
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, I... OMIM:177735
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism, Hypoplasia of penis, Short stature ORPHA:2491
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Hypothyroidism, Abnormality of the kidney ORPHA:391372
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Prolonged neonata... ORPHA:95715
Pseudohypoparathyroidism, Type Ia
Short stature, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogona... OMIM:103580
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentration... ORPHA:90673
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Renal insufficiency, Short stature, Cryptorchidism, Renal hypoplasia, Hypoth... ORPHA:85321
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Autosomal Agammaglobulinemia
Hepatitis, Dehydration ORPHA:33110
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism OMIM:613970
Hypothyroidism, Congenital, Nongoitrous, 6
Growth delay, Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyr... OMIM:614450
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Short stature, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Insu... OMIM:616541
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Microform Holoprosencephaly
Hypoplasia of penis, Short stature, Renal agenesis, Maternal diabetes, Hypothyroidism, Intrauteri... ORPHA:280200
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Dehydration OMIM:143880
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia, Proportionate short stature, Severe postnatal growth retardation... ORPHA:391408
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Micropenis, Hepatic fibrosis, Polycystic kidney dysplasia OMIM:263520
Central Diabetes Insipidus
Diabetes insipidus, Dehydration ORPHA:178029
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hyp... OMIM:602579
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Cryptorchidism, Hypothyroidism OMIM:619908
Developmental And Epileptic Encephalopathy 90
Fetal pyelectasis, Hypothyroidism OMIM:301058
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level, Dehydration OMIM:620126
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor, Pituitary adenoma, Ch... ORPHA:805
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Postnatal growth retardation, Cryptor... ORPHA:96191
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... OMIM:610205
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level, Dehydration OMIM:620125
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Glomerulonephritis, Hypothyroidism, Hepatitis OMIM:304790
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, ... ORPHA:231226
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Dend Syndrome
Hyperglycemia, Dehydration ORPHA:79134
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
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
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Short stature, Hypohidrosis ORPHA:1882
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615109
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Short stature, Proteinuria, Hypoglycemia, Hypothyroidism, Delayed puberty, Hepatoce... ORPHA:79259
Dystonia 28
Precocious puberty, Hypothyroidism, Short stature ORPHA:589618
Polysyndactyly With Cardiac Malformation
Stillbirth, Renal cyst, Hepatic cysts OMIM:263630
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc... OMIM:613986
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Orofaciodigital Syndrome I
Short stature, Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney d... OMIM:311200
Stiff Person Spectrum Disorder
Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:3198
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Diabetes mellitus, Hypothyroidism, Abnormality of the thyroi... ORPHA:77296
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Short stature, Hypothyroidism OMIM:607906
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea... ORPHA:363400
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Short stature, Delayed puberty ORPHA:2994
Potocki-Lupski Syndrome
Hypothyroidism, Abnormal renal morphology, Short stature OMIM:610883
Familial Cold Urticaria
Dehydration, Hyperhidrosis ORPHA:47045
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Congenital Tufting Enteropathy
Cholestatic liver disease, Dehydration, Steatorrhea ORPHA:92050
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Hypothyroidism OMIM:619851
Cole Disease
Hyperglycemia OMIM:615522
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi... OMIM:619609
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Oculoskeletodental Syndrome
Hepatomegaly, Short stature, Renal agenesis, Splenomegaly, Cryptorchidism, Hypercalciuria, Mucopo... OMIM:618440
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Short stature, Decreased response to growth hormone... ORPHA:363528
Renal Hypoplasia, Bilateral
Short stature, Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst,... ORPHA:97362
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Dehydration, Premature adrenarche, S... ORPHA:90794
Glutaric Aciduria Iii
Glutaric aciduria, Hyperthyroidism, Goiter OMIM:231690
Fanconi-Bickel Syndrome
Hepatomegaly, Postnatal growth retardation, Intrahepatic cholestasis, Fasting hypoglycemia, Glyco... OMIM:227810
Coach Syndrome 1
Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Multiple small medull... OMIM:216360
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbir... OMIM:614922
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Polyhydramnios ORPHA:1203
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B... OMIM:267010
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Short stature, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Type I ... OMIM:613385
Omenn Syndrome
Hepatomegaly, Splenomegaly, Thyroiditis, Nephrotic syndrome, Hypothyroidism ORPHA:39041
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Multip... ORPHA:1318
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Abno... ORPHA:400
Thyroid Ectopia
Short stature, Abnormality of the thyroid gland, Jaundice, Growth delay, Ectopic thyroid, Hypothy... ORPHA:95712
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hypersplenism, Splenomegaly, Jaundice, Hepat... ORPHA:231214
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia, Dehydration ORPHA:230
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Intrauterine growth retardati... OMIM:600001
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Short stature, Proteinuria, Hypoglycemia, Splenomegaly, Delaye... OMIM:232220
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia, Hypohidrosis OMIM:606232
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Jaundice, Cholestas... ORPHA:79303
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Intrauterine growth retardation, Hypothyroidism, Hypospadias ORPHA:1923
4H Leukodystrophy
Short stature, Abnormality of thyroid physiology, Decreased response to growth hormone stimulatio... ORPHA:289494
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ... ORPHA:2470
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Dehydration, Growth delay, Hyperglycemia ORPHA:3008
Lig4 Syndrome
Cryptorchidism, Micropenis, Hypothyroidism, Type II diabetes mellitus OMIM:606593
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Meckel Syndrome 14
Hepatic fibrosis, Polycystic kidney dysplasia OMIM:619879
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Prolon... ORPHA:226313
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Dehydration OMIM:602722
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Short stature, Proteinuria,... ORPHA:550
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration, Growth delay, Hyperactive renin-angiotensin system, Hyperaldosteroni... OMIM:214700
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Recurrent urinary tract infections, Short stature, Decreased response to growth hormone stimulati... OMIM:619234
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Dehydration, Portal fibrosis, Hepatic fibrosis, Pr... OMIM:619377
Intrahepatic Cholestasis Of Pregnancy
Abnormality of the pancreas, Jaundice, Abnormal pineal melatonin secretion, Cholecystitis, Hypoth... ORPHA:69665
Joubert Syndrome 20
Renal cyst OMIM:614970
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism, Short stature, Hepatosplenomegaly OMIM:619750
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... OMIM:607361
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Hyperglycemia, Hypertriglyceridemia, Type II diabetes mellitus OMIM:615812
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Hypoglycemia, Nephrocalcinosis, Intrauterine growth retardation, Hypothyroidism OMIM:618005
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia OMIM:236500
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Cryptorchidism, Nephrotic syndr... ORPHA:110
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Leprechaunism
Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Insulin resistance, Hyperinsulinemi... ORPHA:508
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Nephrotic syndrome, Hypothyroidism, Intrauterine growth retardation OMIM:617713
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Short stature, Proteinuria, P... OMIM:208500
Shigellosis
Hypoglycemia, Peritonitis, Cholestasis, Dehydration, Splenic abscess ORPHA:810
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Proportionate short stature, Renal cyst, Type I... ORPHA:488618
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... OMIM:615415
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Immunodeficiency 102
Hepatomegaly, Hypothyroidism, Nodular regenerative hyperplasia of liver OMIM:301082
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Pheochromocytoma, Hepatic heman... OMIM:193300
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Isolated Biliary Atresia
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi... ORPHA:30391
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, Hepatosplenomegaly, Cirr... ORPHA:228426
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Dehydration, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Pancrea... OMIM:219700
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
B4Galt1-Cdg
Splenomegaly, Hepatomegaly, Hypothyroidism ORPHA:79332
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypothyroidism OMIM:618829
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Intrauterine growt... OMIM:601346
Axial Mesodermal Dysplasia Spectrum
Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Re... ORPHA:1834
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglyc... ORPHA:71212
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Hyperhidrosis, Mucopolysacchariduria, Hypothyroidism ORPHA:349
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Adrenal calcification, Hypersplenism, Microvesicular hepatic steatosis, Jau... ORPHA:275761
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Growth delay, Adrenal insufficiency, Hypogonadism, Elevated hepatic iron conc... ORPHA:300298
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, Polycysti... ORPHA:528
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Short stature, Hypospadias, Cryptorchidism, Splenomegaly, Re... ORPHA:567
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp... ORPHA:99880
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Hypothyroidism, Intrauterine growth retardation,... ORPHA:254346
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p... OMIM:249000
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Short stature, Polycystic kidney dysplasia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... ORPHA:79086
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... OMIM:618160
Congenital Short Bowel Syndrome
Dehydration, Steatorrhea OMIM:615237
Meckel Syndrome, Type 2
Intrauterine growth retardation, Bile duct proliferation, Renal cyst OMIM:603194
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidn... OMIM:200980
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Dehydration OMIM:251110
Cystinosis, Nephropathic
Hepatomegaly, Diabetes mellitus, Short stature, Splenomegaly, Dehydration, Hypohidrosis, Growth d... OMIM:219800
Ogden Syndrome
Global glomerulosclerosis, Short stature, Maternal diabetes, Postnatal growth retardation, Crypto... OMIM:300855
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibrosis, Re... OMIM:124000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism ORPHA:88643
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Short stature, Renal cyst ORPHA:2031
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism ORPHA:3282
14Q11.2 Microduplication Syndrome
Hypothyroidism ORPHA:261229
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp... ORPHA:143
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Jaundice, Hydrops fetalis, Dehydration, Growth delay, Intrauterine growth retardation ORPHA:79282
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Isovaleric Acidemia
Dehydration OMIM:243500
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Diabetes insipidus, Elevat... ORPHA:300373
Beckwith-Wiedemann Syndrome
Ureteral duplication, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Hypothyroidism, Hepatom... ORPHA:116
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst OMIM:611561
Koolen-De Vries Syndrome
Ureteral duplication, Short stature, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hypothyr... ORPHA:96169
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Martin-Probst Syndrome
Renal insufficiency, Short stature, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Mi... OMIM:300519
Smith-Magenis Syndrome
Short stature, Renal hypoplasia/aplasia, Precocious puberty, Abnormality of the ureter, Abnormal ... ORPHA:819
Lamellar Ichthyosis
Short stature, Dehydration ORPHA:313
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Short stature, Decreased response to growth hormone stimulation test, Central diabetes insipidus,... ORPHA:293987
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias, Malformation of the hepatic ductal plate OMIM:614175
Scorpion Envenomation
Acute pancreatitis, Edema, Hyperhidrosis, Glycosuria, Hyperglycemia, Pulmonary edema ORPHA:466677
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Short stature, Hypospadias, Abnorma... ORPHA:209905
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Ring Chromosome 12 Syndrome
Cryptorchidism, Glandular hypospadias, Growth delay, Hypothyroidism, Breast hypoplasia ORPHA:1439
Microsporidiosis
Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Peritonitis, Biliar... ORPHA:2552
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Xerostomia... ORPHA:398079
Schimke Immuno-Osseous Dysplasia
Short stature, Abnormality of thyroid physiology, Proteinuria, Minimal change glomerulonephritis,... ORPHA:1830
Autosomal Dominant Optic Atrophy, Classic Form
Hypogonadism, Diabetes mellitus, Hypothyroidism ORPHA:98673
Seckel Syndrome 10
Acute pancreatitis, Severe short stature, Diabetes mellitus, Impaired glucose tolerance, Elevated... OMIM:617253
Pallister-Hall Syndrome
Thyroid dysgenesis, Renal dysplasia, Decreased circulating cortisol level, Hydroureter, Short sta... OMIM:146510
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:613550
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Short stature, Diabetes insipidus, Splenomegaly, Prolonged neonatal jaundice, Hypot... OMIM:225750
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Meckel Syndrome, Type 4
Intrauterine growth retardation, Bile duct proliferation, Renal cyst OMIM:611134
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Hydrourete... ORPHA:2970
Atelis Syndrome 1
Hypothyroidism OMIM:620184
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Femoral-Facial Syndrome
Renal agenesis, Short stature, Maternal diabetes, Abnormal renal collecting system morphology, Cr... OMIM:134780
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Dehydration OMIM:251100
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hypergonadotropic hypogonadism, Proteinuria, Hypothyroidism, Renal cyst, Nephrotic ... OMIM:212065
Neurooculorenal Syndrome
Hypoplasia of the bladder, Ectopic posterior pituitary, Decreased circulating cortisol level, Uni... OMIM:620305
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Short stature OMIM:600430
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis OMIM:236700
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, 3-Methylglutaconic aciduria, Myoglobinuria, Hypothyroidism OMIM:251900
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Hajdu-Cheney Syndrome
Hypospadias, Short stature, Cryptorchidism, Renal cyst, Polycystic kidney dysplasia OMIM:102500
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism ORPHA:352530
Atypical Werner Syndrome
Diabetes mellitus, Short stature, Hypertriglyceridemia, Abnormal circulating leptin concentration... ORPHA:79474
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th... ORPHA:2869
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Short stature, Polyhydramnios, Dehydration, Hyperactive renin-angiotensin sy... OMIM:601678
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... ORPHA:284
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... OMIM:200995
Spondyloenchondrodysplasia
Short stature, Decreased response to growth hormone stimulation test, Proteinuria, Chronic kidney... ORPHA:1855
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Atelosteogenesis Type I
Neonatal short-trunk short stature, Rhizomelia, Abnormal pancreatic duct morphology, Multiple ren... ORPHA:1190
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi... ORPHA:2905
Meckel Syndrome, Type 6
Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, B... OMIM:612284
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:98754
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Short stature, Unilateral renal agenesis, Cryptorchidism, Elev... OMIM:101800
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Pancreatitis, Dehydration ORPHA:90038
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Thyroiditis, Growth delay, Type I diabetes mellitus, Hypothyroidism OMIM:614700
Roberts Syndrome
Postnatal growth retardation, Cryptorchidism, Long penis, Severe intrauterine growth retardation,... ORPHA:3103
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Hypothyroidism, Thyroiditis, Hepatosplenomegaly OMIM:606367
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Stage 3 chronic kidney disease, Hyperparathyroidism OMIM:620366
Floating-Harbor Syndrome
Short stature, Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the... ORPHA:2044
Netherton Syndrome
Short stature, Dehydration ORPHA:634
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Ulbright-Hodes Syndrome
Abnormal penis morphology, Maternal diabetes, Postnatal growth retardation, Cryptorchidism, Renal... ORPHA:3404
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Portal hypertension, Cryptorchidism, Renal hypoplasia, Macronodular cirrhosis, ... OMIM:620005
Cholera
Hypoglycemia, Dehydration ORPHA:173
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:98793
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:177904
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Abnormality of the endocrine system, Splenomegaly, Hepatitis, Thyroiditis, Tubul... ORPHA:37042
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Growth delay, Renal insufficiency, Hypothyroidism, Mild proteinuria OMIM:619147
Pancreas, Annular
Annular pancreas OMIM:167750
Annular Pancreas
Annular pancreas ORPHA:675
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:177901
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst, Thyroid adenoma OMIM:617100
Intellectual Developmental Disorder, Autosomal Dominant 52
Bilateral cryptorchidism, Cryptorchidism, Hypothyroidism OMIM:617796
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test, Short ... OMIM:618922
Tuberous Sclerosis 1
Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma, Hyp... OMIM:191100
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Monosomy 18P
Hypothyroidism, Short stature ORPHA:1598
Whipple Disease
Splenomegaly, Hepatomegaly, Insulin resistance, Hypothyroidism ORPHA:3452
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... OMIM:609152
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Growth delay, Hepatomegaly, Hypothyroidism OMIM:226300
Harlequin Ichthyosis
Dehydration ORPHA:457
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Biliary atresia, Congenital h... ORPHA:2255
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Short stature, Decreased response to growth hormone stimulation test, Growth delay, S... OMIM:614114
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma... ORPHA:2075
Verheij Syndrome
Short stature, Renal agenesis, Renal hypoplasia, Renal cyst, Growth delay, Intrauterine growth re... OMIM:615583
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovarian cyst, Increased ... ORPHA:562
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hypohidrosis, Hypothyroidism ORPHA:1812
Immunodeficiency 31C
Hepatomegaly, Diabetes mellitus, Short stature, Splenomegaly, Growth delay, Delayed puberty, Hypo... OMIM:614162
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Short stature, Hypospadias, Splenomegaly, Hepatosplenomegaly, Micropenis, Hypothyro... OMIM:613673
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Diabetes mellitus, Hypothyroidism ORPHA:263297
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Short stature OMIM:617763
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Glucose intolerance, Abnormality of the liver, Hypothyroidism... ORPHA:254892
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Disproportionate short stature, Renal hypoplasia, Renal cyst, Severe postnatal gr... OMIM:210710
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... OMIM:613254
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Interstitial Lung And Liver Disease
Hepatomegaly, Hypothyroidism, Cholestasis, Aminoaciduria, Hepatic fibrosis, Cirrhosis, Hepatic st... OMIM:615486
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Hypothyroidism ORPHA:449291
Down Syndrome
Hypothyroidism, Type II diabetes mellitus, Renal hypoplasia/aplasia ORPHA:870
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Malformation of the hepatic ductal plate, Portal hyp... ORPHA:84081
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Short stature, Precocious puberty, Cryptorchidism, Xerostomia, Absence of pub... ORPHA:398069
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Seckel Syndrome 7
Intrauterine growth retardation, Severe short stature, Central hypothyroidism OMIM:614851
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Hypoglycemia, Premature thelarche, Myoglobinuria, Hypothyroidism, Premature pubarche OMIM:616878
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:616546
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Short stature, Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horseshoe kidney,... ORPHA:166035
Prader-Willi Syndrome
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Precocio... ORPHA:739
Cenani-Lenz Syndrome
Crossed fused renal ectopia, Hypothyroidism, Renal hypoplasia/aplasia ORPHA:3258
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Abnormality of the thyroid gland, Pituitar... ORPHA:733
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Disproportionate short-trunk short stature, Horseshoe kidn... OMIM:608022
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, G... ORPHA:247691
Allan-Herndon-Dudley Syndrome
Cryptorchidism, Short stature, Abnormality of thyroid physiology, Prolonged neonatal jaundice ORPHA:59
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Unilateral cryptorchidism, Short stature, Hypospadias, Abnormality of the kidney, B... ORPHA:1772
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Short stature, Cryptorchidism, Dehydration, Abnormal circulating calcium-pho... ORPHA:534
Subcorneal Pustular Dermatosis
Hyperthyroidism, Hypothyroidism ORPHA:48377
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis OMIM:601539
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the kidney, Nephrolithiasis, Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis OMIM:615994
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Infantile Nephropathic Cystinosis
Growth delay, Abnormality of thyroid physiology, Dehydration, Glycosuria ORPHA:411629
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Diabetes insipidus, Hypertonic dehydration OMIM:304800
Chromosome 1P35 Deletion Syndrome
Cryptorchidism, Congenital hypothyroidism, Short stature, Intrauterine growth retardation OMIM:617930
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Hypothyroidism, Hypospadias OMIM:603736
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Short stature, Hypertonic dehydration OMIM:125800
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism ORPHA:2519
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Short stature, Hypospadias, Cryptorchidism, Jaundice,... ORPHA:912
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Marburg Hemorrhagic Fever
Hypoglycemia, Orchitis, Jaundice, Dehydration, Pancreatitis ORPHA:99826
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Short stature, Abnormality of the endocrine system, Functional abnormality of the bladder, Hepati... ORPHA:391487
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Dehy... OMIM:607364
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Aplasia of the thymus, Atypical or prolonged hepatitis, Thyro... ORPHA:83471
Monosomy 18Q
Short stature, Bilateral cryptorchidism, Growth delay, Micropenis, Hypothyroidism, Secondary grow... ORPHA:1600
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Hyperglycemia, Short stature, Decreased response to growth hormone stimulation test ORPHA:444077
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Renal cell carcinoma, Thyroid carcinoma, ... ORPHA:276399
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Cholangitis, Abnormality of the kidney, Retroperitoneal fibrosis, Abnormalit... ORPHA:449432
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Distal Xq28 Microduplication Syndrome
Hypothyroidism, Short stature ORPHA:293939
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis, Intrauterine growth retardation ORPHA:73246
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism, Urinary incontinence OMIM:300623
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Short stature, Hypospadias, Bilateral cryptorchidism, Cryptorchidism, Central hypothyroidism, Gro... OMIM:300998
Jung Syndrome
Hypothyroidism ORPHA:2321
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Hypoplastic nipples, Cholelithiasis, Hypothyr... OMIM:618268
Trisomy 13
Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea... ORPHA:3378
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... ORPHA:79102
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Hyperthyroidism, Decreased response to growth hormone stimulation test, Crypt... ORPHA:488632
Lipodystrophy, Congenital Generalized, Type 1
Diabetes mellitus, Decreased serum leptin, Hyperinsulinemia, Nephrolithiasis, Polycystic ovaries,... OMIM:608594
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal bladder morphology, Cryptorchidism, Vesicoureteral reflux, Intrauterine growth retardati... ORPHA:453499
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple renal cy... ORPHA:464329
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Abnormal thymus morphology, Glycosuria... ORPHA:589
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothy... OMIM:618183
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Congenital ... ORPHA:1454
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism OMIM:603373
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias, Intrauterine growth retardation ORPHA:2115
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Short stature, Hypospadias, Nephroblastoma, Postnatal growth retard... OMIM:257300
1P36 Deletion Syndrome
Hypoplasia of penis, Short stature, Hypospadias, Abnormality of the kidney, Abnormality of the sp... ORPHA:1606
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst, Thyroid adenoma ORPHA:480536
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Primary Fanconi Renotubular Syndrome
Growth delay, Hypoglycemia, Dehydration, Glycosuria ORPHA:3337
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Postnatal growth retardation, Cryptorchidism, Long penis, Biliary ... OMIM:268300
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Hydrocele testis, Inappropriate antidiuretic hormone secretion,... ORPHA:79330
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Supernumerary nipple, Crypt... ORPHA:261494
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Ureteral duplication, Short stature, Cholangitis, Rhizomelia, Pancreatic cysts, Con... OMIM:266920
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Short stature, Decreased response to growth hormone stimulation test, Renal cyst OMIM:617260
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Severe short stature, Thyroid agenesis, Cryptorchidism, Growth delay, Ectopic... ORPHA:3047
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Short stature, Dehydration, Growth delay, Glycosuria ORPHA:47159
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Adiposis Dolorosa
Hypothyroidism, Xerostomia ORPHA:36397
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Nephrolithiasis, Polycystic ovaries, Insulin-resistant ... OMIM:269700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Cutis Marmorata Telangiectatica Congenita
Intrauterine growth retardation, Multicystic kidney dysplasia, Hypothyroidism, Displacement of th... ORPHA:1556
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia OMIM:613327
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Short stature ORPHA:2479
Aceruloplasminemia
Diabetes mellitus, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic ir... ORPHA:48818
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Short stature, Decreased response to growth hormone stimulati... ORPHA:268261
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism, Hypoglycemia, Ketonuria, Hypoglycemic seizures ORPHA:480864
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia OMIM:615989
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Shor... OMIM:614527
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:363958
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Short stature, Polyhydramnios, Nephrogenic diabetes insipidus, Growth ... ORPHA:223
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Short stature, Growth delay, Intrauterine growth retardation, Nephr... ORPHA:1052
Johanson-Blizzard Syndrome
Hepatomegaly, Diabetes mellitus, Short stature, Hypospadias, Portal hypertension, Urethrovaginal ... OMIM:243800
Acute Monoblastic/Monocytic Leukemia
Oliguria, Central hypothyroidism ORPHA:514
Penile Agenesis
Urethral atresia, male, Hydroureter, Maternal diabetes, Cryptorchidism, Fetal pyelectasis, Bilate... ORPHA:49
Lymphatic Malformation 6
Hydrocele testis, Splenomegaly, Short stature, Hypothyroidism OMIM:616843
D-Bifunctional Protein Deficiency
Hepatomegaly, Splenomegaly, Primary adrenal insufficiency, Cholestasis, Renal cyst, Bile duct pro... OMIM:261515
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital ... ORPHA:369837
Pseudoxanthoma Elasticum
Nephrocalcinosis, Hypothyroidism ORPHA:758
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Birth length less than 3rd pe... ORPHA:464311
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Short stature, Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Intrauterine growt... OMIM:616975
Alternating Hemiplegia Of Childhood
Dehydration, Hyperhidrosis ORPHA:2131
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Short stature, Abnormality of thyroid physiology, Hydronephrosis, Unilateral breast hypoplasia, R... OMIM:300968
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, Short stature, Tubulointerstitial fibrosis OMIM:607944
Mosaic Trisomy 9
Hypoplasia of penis, Asplenia, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Abnormal liver l... ORPHA:99776
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Splenomegaly, Hypothyroidism, Hepatitis, Nephrotic syndrome, Intrauterine growth re... OMIM:615846
Distal Renal Tubular Acidosis
Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Gr... ORPHA:18
Renal Hypoplasia
Dehydration ORPHA:93101
Intellectual Developmental Disorder, X-Linked 98
Postnatal growth retardation, Steroid-dependent nephrotic syndrome, Urinary incontinence, Central... OMIM:300912
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Cryptorchidism, Ren... OMIM:229850
Alexander Disease
Precocious puberty, Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:58
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Short stature, Decreased circulating ... OMIM:188400
Fibrous Dysplasia Of Bone
Hyperthyroidism, Short stature, Precocious puberty in females, Testicular neoplasm, Elevated circ... ORPHA:249
Aicardi-Goutières Syndrome
Diabetes mellitus, Short stature, Hepatosplenomegaly, Prolonged neonatal jaundice, Micropenis, Hy... ORPHA:51
Braddock-Carey Syndrome 1
Growth delay, Multicystic kidney dysplasia OMIM:619980
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Asplen... ORPHA:564
Alagille Syndrome 1
Duplicated collecting system, Hepatocellular carcinoma, Multiple small medullary renal cysts, Ren... OMIM:118450
Williams-Beuren Syndrome
Recurrent urinary tract infections, Diabetes mellitus, Short stature, Renal insufficiency, Portal... OMIM:194050
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Short stature, Congenital hypothyroidism, Hydrocele testis,... OMIM:620186
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication, Hypothyroidism ORPHA:457212
Bartter Syndrome, Type 2, Antenatal
Short stature, Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteron... OMIM:241200
Dyrk1A-Related Intellectual Disability Syndrome
Short stature, Anterior pituitary hypoplasia, Hypospadias, Unilateral renal agenesis, Cryptorchid... ORPHA:464306
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Growth delay, Vesicoureteral reflux, Hypothy... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Growth delay, Vesicoureteral reflux, Hypothy... ORPHA:352665
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Short stature, Nephroblastoma, Supernumerary nipple ORPHA:1001
Bartter Syndrome Type 4
Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ... ORPHA:89938
Neuroleptic Malignant Syndrome
Dehydration, Hyperhidrosis ORPHA:94093
Trisomy 1Q
Cryptorchidism, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Growth delay, Hydronephrosis, Hypogonadism, I... ORPHA:261349
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Stüve-Wiedemann Syndrome
Short stature, Hyperhidrosis, Hypohidrosis, Ectopic thyroid, Intrauterine growth retardation, Hyp... ORPHA:3206
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst... ORPHA:798
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Oligomeganephronia
Dehydration ORPHA:2260
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadia... ORPHA:373
Cornelia De Lange Syndrome 1
Short stature, Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morpholog... OMIM:122470
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Hallermann-Streiff Syndrome
Cryptorchidism, Abdominal situs inversus, Hypothyroidism, Proportionate short stature ORPHA:2108
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short stature, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, ... OMIM:618454
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Crypto... ORPHA:2473
Colchicine Poisoning
Dehydration ORPHA:31824
Myopathy, Mitochondrial, And Ataxia
Growth delay, Hyperthyroidism, Short stature, Increased circulating prolactin concentration OMIM:617675
Abetalipoproteinemia
Hepatomegaly, Hypothyroidism, Hepatic fibrosis, Cirrhosis, Hepatic steatosis ORPHA:14
Neuhauser Syndrome
Short stature, Primary hypothyroidism OMIM:249310
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Short stature, Intrauterine growth retardation, Hyd... ORPHA:1297
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hydronephrosis, Intrauteri... ORPHA:506358
Joubert Syndrome 14
Growth delay, Renal cyst OMIM:614424
White-Kernohan Syndrome
Hydroureter, Hypothyroidism, Hydronephrosis, Horseshoe kidney OMIM:619426
Rothmund-Thomson Syndrome Type 1
Short stature, Cryptorchidism, Growth delay, Hypogonadism, Hypothyroidism ORPHA:221008
Joubert Syndrome 1
Nephropathy, Hepatic fibrosis, Renal cyst OMIM:213300
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Splenomegaly, Renal hypoplasia, Periportal fibrosis, Hypoplastic nipples, Neonatal ... OMIM:269860
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Pancreatic cysts, Abnormality of ... ORPHA:2750
Trisomy 20P
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... ORPHA:261318
Netherton Syndrome
Hypernatremic dehydration, Angioedema OMIM:256500
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Abnormality of the kidney, ... ORPHA:857
Williams Syndrome
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref... ORPHA:904
Genitopatellar Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Short stature, Hydronephrosis ORPHA:85201
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Cryptorchidism, Renal hypoplasia, Renal cyst, Stillbirth OMIM:616300
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Growth delay, Hyperthyroidism, Short stature, Increased circulating prolactin concentration ORPHA:502423
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism ORPHA:98808
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Urinary bladder sphincter dysfunction, Hypothyroidism ORPHA:93256
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Severe short stature, H... ORPHA:2461
Sarcoidosis
Hepatomegaly, Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Portal hypertension, Enla... ORPHA:797
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Hypospadias, Growth delay, Urogenital sinus anomaly, Primary hypot... ORPHA:96176
Histiocytoid Cardiomyopathy
Hepatomegaly, Hypoglycemia, Renal cyst, Polycystic ovaries ORPHA:137675
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased circulating ... ORPHA:99413
Mosaic Monosomy X
High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased circulating ... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased circulating ... ORPHA:99226
Turner Syndrome
High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased circulating ... ORPHA:881
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Abnormality... ORPHA:2538
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Short stature, Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Abnormali... ORPHA:438213
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Rhizomelia, Short stature, Hypospadias, Renal... ORPHA:709
Jacobsen Syndrome
Multicystic kidney dysplasia, Short stature, Cryptorchidism, Growth delay, Intrauterine growth re... ORPHA:2308
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short stature, Renal cyst, Horseshoe kidney OMIM:250410
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Short stature, Hy... OMIM:270400
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Short stature, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Intraut... OMIM:618460
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Cranioectodermal Dysplasia 2
Hepatomegaly, Renal insufficiency, Short stature, Cholangitis, Rhizomelia, Splenomegaly, Biliary ... OMIM:613610
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology ORPHA:563
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Scleromyxedema
Abnormality of thyroid physiology, Abnormality of the kidney ORPHA:167635
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Multicystic kidney dysplasia, Short stature, Hyposp... ORPHA:1596
Cerebrotendinous Xanthomatosis
Cholelithiasis, Hypothyroidism, Prolonged neonatal jaundice ORPHA:909
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia ORPHA:3301
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Congenital hypothyroidism, Growth delay, Ureteropelvic junction obstruction, ... OMIM:616973
Acrocardiofacial Syndrome
Hypoplasia of penis, Hyperthyroidism, Hypospadias, Cryptorchidism, Intrauterine growth retardation ORPHA:2008
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Cryptorchidism, R... OMIM:107480
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis ORPHA:2059
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts, Thyroid adenoma ORPHA:220460
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Short stature, Premature thelarc... OMIM:147920
Coffin-Siris Syndrome 12
Hypospadias, Short stature, Cryptorchidism, Horseshoe kidney, Hypothyroidism OMIM:619325
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... ORPHA:64
Trisomy 10P
Absent gallbladder, Abnormality of the kidney, Growth delay, Multiple renal cysts, Intrauterine g... ORPHA:171929
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Pagod Syndrome
Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen,... ORPHA:991
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Palmoplantar hyperhidrosis, Congenital hypothyroidism OMIM:617527
Joubert Syndrome 21
Splenomegaly, Hyperechogenic kidneys, Renal cyst OMIM:615636
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Alobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma... ORPHA:93924
Semilobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma... ORPHA:220386
Microphthalmia, Syndromic 2
Short stature, Hypospadias, Cryptorchidism, Adrenal insufficiency, Hypothyroidism OMIM:300166
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Rhizomelia, Short stature, Hypospadias, Renal ... ORPHA:818
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia OMIM:617107
Genitopatellar Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Micropenis, Hypothyroidism, Hydronephrosis OMIM:606170
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Microphthalmia, Syndromic 6
Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Anterior hypopituitari... OMIM:607932
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Ectopic kidney, Cryptorchidism, Congenital hypothyroidism, Growth delay, Hypothyroidism OMIM:607872
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Rhizomelia, Disproportionate short-limb short stature, Congenital hypothyroidism OMIM:271510
Liver Disease, Severe Congenital
Recurrent urinary tract infections, Hypospadias, Abnormal circulating thyroid hormone concentrati... OMIM:619991
Hajdu-Cheney Syndrome
Hepatomegaly, Short stature, Hypospadias, Splenomegaly, Multiple renal cysts, Delayed puberty ORPHA:955
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:2092
Primrose Syndrome
Diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Crypt... OMIM:259050
Bilateral Polymicrogyria
Central hypothyroidism ORPHA:268940
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Congenital hypothyroidism... ORPHA:79500
Down Syndrome
Hypothyroidism, Short stature OMIM:190685
Cerebrocostomandibular Syndrome
Postnatal growth retardation, Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidism, Renal cyst, Duplic... OMIM:312870
Sponastrime Dysplasia
Rhizomelia, Hypospadias, Precocious puberty, Disproportionate short-limb short stature, Intrauter... ORPHA:93357
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Renal h... ORPHA:93271
Robinow Syndrome
Multicystic kidney dysplasia, Short stature, Cryptorchidism, Micropenis, Webbed penis, Decreased ... ORPHA:97360
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Disproportionate short-limb sh... ORPHA:1507
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Jaundice... ORPHA:3310
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cryptorchidism, Decreased serum testosterone concentration, Hypospadias, Renal cyst ORPHA:495875
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma ORPHA:538
Cerebrocostomandibular Syndrome
Intrauterine growth retardation, Multicystic kidney dysplasia, Short stature ORPHA:1393
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Short stature, Hypospadias, Unilateral renal agenesis, Renal agenes... OMIM:308205
Pmm2-Cdg
Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, In... ORPHA:79318
Leukocyte Adhesion Deficiency
Hemolytic-uremic syndrome, Recurrent urinary tract infections, Glomerulonephritis, Hyperinsulinem... ORPHA:2968
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Hypospadias, Renal insufficienc... ORPHA:199
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Spondylocarpotarsal Synostosis Syndrome
Disproportionate short-trunk short stature, Renal cyst OMIM:272460
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hyperthyroidism, Short stature, Decreased response to growth ... ORPHA:3455
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Neoplasm of t... ORPHA:744
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Short stature OMIM:300373
Branchiooculofacial Syndrome
Hypospadias, Renal agenesis, Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, ... OMIM:113620
C Syndrome
Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe ... ORPHA:1308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Decreased testicular size OMIM:615287
Viss Syndrome
Hypothyroidism, Short stature, Hydronephrosis OMIM:619472
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Renal hypoplasia,... ORPHA:2052
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Short stature, Urinary incontinence, Hypospadias, Abnormality of th... ORPHA:2152
Pallister-Killian Syndrome
Anhidrosis, Rhizomelia, Hypospadias, Supernumerary nipple, Mesomelic/rhizomelic limb shortening, ... OMIM:601803
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Short stature, Urinary incontinence, Hypospadias, Asplenia, Cryptor... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Short stature, Urinary incontinence, Hypospadias, Asplenia, Cryptor... ORPHA:261552
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... 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

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