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:
E330013K21Rik,  4833409N03Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... 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
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver, Diabetes mellitus DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Short stature, Impaired ... OMIM:262700
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Papillary renal cell ca... OMIM:145001
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Growth delay, Pituitary dwarfism, Decreased response to growth hormone stimuation... OMIM:262710
Wolfram-Like Syndrome
Male hypogonadism, Glucose intolerance, Hypothyroidism, Delayed puberty, Central diabetes insipid... ORPHA:411590
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Congenital Atransferrinemia
Hypothyroidism, Abnormality of the pancreas ORPHA:1195
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Intrauterine growth retardation, Hyperglycemia, Dehydration OMIM:601410
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Intrauterine growth reta... ORPHA:99886
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease, Polycystic kidney dysplasia, Short stature OMIM:211890
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Short stature, Decreased response to growth hormone stimuatio... OMIM:300123
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia OMIM:606528
Retinohepatoendocrinologic Syndrome
Hypothyroidism, Maturity-onset diabetes of the young, Degenerative liver disease OMIM:268040
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cyst... OMIM:263200
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Postnatal growth retardation, Hypoglycemia, Short stature, Hypogonadism OMIM:616113
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Acute pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hype... OMIM:608600
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Panhypopituitarism, Neonatal hypoglycemia, Hypothyroidism, Adrenal insuffi... OMIM:262600
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Exocrine pan... ORPHA:552
Thyroid Dyshormonogenesis 5
Hypothyroidism, Growth delay, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Growth delay, Goiter OMIM:274800
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Hepatic... OMIM:231680
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
Bardet-Biedl Syndrome 6
Hypospadias, Diabetes mellitus, Renal cyst OMIM:605231
Glycogen Storage Disease Vi
Hypercholesterolemia, Postnatal growth retardation, Hypoglycemia, Hepatomegaly, Hypertriglyceride... OMIM:232700
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Polycystic kidney dysplasia, Re... OMIM:615382
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased urine alpha-ketoglutarate conc... ORPHA:35878
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Pituitary dwarfism, Impaired growth-hormone response to insul... OMIM:262400
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst, Abnormality of the kidney OMIM:615987
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Hypoglycemia, Hepatomegaly, Dehydration, Intrauterine growth retardation OMIM:618958
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Donohue Syndrome
Ovarian cyst, Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Postnatal growt... OMIM:246200
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Joubert Syndrome 26
Panhypopituitarism, Central hypothyroidism, Short stature, Micropenis, Decreased response to grow... OMIM:616784
Mitchell-Riley Syndrome
Hyperglycemia, Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Intrauterin... OMIM:615710
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Goiter, Thyroid defect in oxidation and organification of iodide OMIM:274500
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Panc... OMIM:208540
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mel... OMIM:604367
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Goiter, Thyroid carcinoma OMIM:274700
Enteric Anendocrinosis
Type I diabetes mellitus, Portal hypertension, Dehydration, Cholestatic liver disease ORPHA:83620
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Gilbert Syndrome
Jaundice, Dehydration OMIM:143500
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Hypogonadism, Abnormality of th... OMIM:615993
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Hypoglycemia, De... ORPHA:95496
Femoral-Facial Syndrome
Cryptorchidism, Maternal diabetes, Long penis, Abnormal localization of kidney, Polycystic kidney... ORPHA:1988
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Growth delay, Hypoglycemia, Hepatomegaly, Hypertriglyceridemia OMIM:306000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the pancreas, Abnormal biliary trac... ORPHA:3032
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dehydration ORPHA:79159
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Renal agenesis, Acute kidney injury, Horseshoe kidney, Hepatic steatosis, Hy... ORPHA:93111
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter, Multicystic kidney dysplasia ORPHA:2091
Beckwith-Wiedemann Syndrome
Cryptorchidism, Renal cortical cysts, Neonatal hypoglycemia, Enlarged kidney, Hepatomegaly, Pancr... OMIM:130650
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Polycystic kid... ORPHA:2237
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancre... ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus OMIM:609069
Nephrotic Syndrome, Type 14
Cryptorchidism, Focal segmental glomerulosclerosis, Hypothyroidism, Hypoglycemia, Adrenal insuffi... OMIM:617575
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatic cysts, Recurrent urinary tract infections, Polycystic kidney dysplasia, Stage 5 chronic k... OMIM:613095
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Hypothyroidism, Nephropathy, Cholestasis... ORPHA:85445
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts OMIM:173900
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... OMIM:260370
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Renal cyst, Splenomegaly... OMIM:614866
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 level OMIM:615999
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism, Short stature OMIM:275120
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 level, Central hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:301035
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Pituitary Hormone Deficiency, Combined, 1
Hypothyroidism, Prolonged neonatal jaundice, Jaundice, Short stature, Severe postnatal growth ret... OMIM:613038
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Hepatic cysts, Hypothyroidism, Membranous nephropathy, Short sta... OMIM:618999
Thyroid Dyshormonogenesis 1
Hypothyroidism, Growth delay, Goiter OMIM:274400
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Dehydration, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Red... ORPHA:99885
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Mahvash Disease
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Hypogly... OMIM:220111
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Dehydration, Pancreatitis, Splenomegaly ORPHA:79312
Immunodeficiency 31C
Hypothyroidism, Growth delay, Delayed puberty, Short stature, Diabetes mellitus OMIM:614162
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism, Premature ovarian insufficiency, Short stature OMIM:618625
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... ORPHA:90791
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Isosexual precocious puberty, Sho... OMIM:176400
Adrenal Hypoplasia, Congenital
Cryptorchidism, Adrenal hypoplasia, Decreased circulating cortisol level, Primary adrenal insuffi... OMIM:300200
Galloway-Mowat Syndrome 6
Proteinuria, Hypothyroidism, Short stature, Nephrotic syndrome, Decreased response to growth horm... OMIM:618347
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Dehydration, Short stature, Pancreatitis OMIM:606054
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Dehydration ORPHA:28
Combined Malonic And Methylmalonic Acidemia
Dehydration, Hypoglycemia ORPHA:289504
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Growth delay, Central hypothyroidism, Hepatome... ORPHA:1667
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hypoglycemia, Renal salt wasting, Congenital hypothyroidism, Precocious puberty OMIM:614736
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, Glutaric aciduria, 3-Methylglutaric aciduria, Hypoglycemia, Acute pancreatitis, H... ORPHA:26791
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Episo... ORPHA:276556
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Growth delay, Pituitary hypothy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Growth delay, Pituitary hypothy... ORPHA:71526
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Growth delay, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Vipoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97282
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hepatosplenomegaly, Polycystic kidney dysplasia OMIM:608776
Pendred Syndrome
Goiter, Hypothyroidism, Nephropathy, Thyroid carcinoma, Hyperparathyroidism ORPHA:705
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Dehydration, Pancreatitis ORPHA:27
Isolated Growth Hormone Deficiency, Type V
Short stature, Postnatal growth retardation, Decreased response to growth hormone stimuation test OMIM:618160
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hypoketotic hypoglyce... ORPHA:157
Myxedema
Hypohidrosis, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:255900
Permanent Congenital Hypothyroidism
Goiter, Hypothyroidism, Jaundice, Short stature, Thyroid dysgenesis ORPHA:226292
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Maturity-onset diabetes of the young, Glucose intolerance, Exocrine pa... OMIM:137920
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Hypothyroidism, Re... OMIM:610755
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Renal hypoplasia, Hypothyroidism, Growth delay, Delayed puberty, Short stature, I... OMIM:616817
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Hypothyroidism, Growth delay, Testicular atrophy, Hydronephrosis... OMIM:222300
C Syndrome
Hepatomegaly, Cryptorchidism, Renal cortical cysts, Short stature OMIM:211750
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Nonketotic hypoglycemia, Macrovesicular hepatic steatosis, Hepatomegaly, Hepatic... OMIM:608836
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Dehydration, Diabetes mellitus, Type I diabetes mellitus OMIM:560000
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Goiter, Increased circulating free T3 OMIM:188570
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty, Type I diabetes mellitus, Sho... OMIM:615952
17Q12 Microdeletion Syndrome
Cryptorchidism, Pancreatic aplasia, Multicystic kidney dysplasia, Short stature, Renal insufficie... ORPHA:261265
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Hepatocellular carcinoma, Impaired glucose tole... ORPHA:2088
Rhyns Syndrome
Nephronophthisis, Abnormality of the liver, Hypopituitarism, Multicystic kidney dysplasia ORPHA:140976
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis, Hypertriglyceridemia, ... ORPHA:280356
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis ORPHA:791
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Jaundice, Hypothyroidism, Short stature ORPHA:2349
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Ketonuria, Glycosuria ORPHA:2089
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Joint swelling, Hypothyroidism, Hepatocellular carcinoma, Hepatomegaly, Testicular atr... ORPHA:465508
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Dahlberg-Borer-Newcomer Syndrome
Hypohidrosis, Hypothyroidism, Nephropathy, Short stature, Renal insufficiency, Hypoparathyroidism ORPHA:1563
Generalized Pseudohypoaldosteronism Type 1
Proportionate short stature, Increased circulating renin level, Glucocortocoid-insensitive primar... ORPHA:171876
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, A... OMIM:151660
Cystinosis
Nephrogenic diabetes insipidus, Hypothyroidism, Aminoaciduria, Nephropathy, Delayed puberty, Type... ORPHA:213
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia OMIM:617866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Aminoaciduria, Intrahepatic biliary dysgenesis, Hypoplasia of the thymus, Jaundic... OMIM:214110
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Branchiootorenal Syndrome 1
Renal malrotation, Abnormal renal collecting system morphology, Renal steatosis, Renal dysplasia,... OMIM:113650
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Decreased circulating parathyroid hormone level, Chronic active hepatitis, Pri... OMIM:240300
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Duplicated collecting system, Postnatal growth retardation, Hydronephrosis, In... OMIM:617093
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Hepatic fibrosis, Renal cyst, Polycystic kidney dysplasia, Short stature, Hypos... OMIM:614091
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts OMIM:617668
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Abnormality of the urethra, Hypothyroidism ORPHA:752
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts ORPHA:2924
Mosaic Trisomy 1
Hepatic agenesis, Penile hypospadias, Renal cortical cysts, Renal cyst, Micropenis ORPHA:1692
Potocki-Shaffer Syndrome
Hypothyroidism, Nephroblastoma, Micropenis, Delayed puberty ORPHA:52022
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Hypothyroidism, Chro... OMIM:269200
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Microphallus, Hypothyroidism, Postnatal growth retardation, Hypoglycemia, Intraut... ORPHA:397590
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, Renal cyst, Abnormality of the kidney OMIM:615982
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hypoketotic hypoglyce... ORPHA:228308
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Dehydration, Pancreatitis OMIM:251000
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Growth delay, Increased circulating renin level, Dehy... OMIM:610600
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Mild short stature, Congenital hypothyroidism, Intrauterine growth retardation, H... OMIM:614613
Thyroid Lymphoma
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyperthyroidism ORPHA:97285
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevated circulating... ORPHA:95716
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Steatorrhea, Cholestasis, Hepatitis, Cholestatic liver disease, Short... ORPHA:440713
Trichohepatoenteric Syndrome 1
Cirrhosis, Cholestasis, Hepatic fibrosis, Jaundice, Hepatomegaly, Abnormality of the pancreas, Ga... OMIM:222470
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis, Aminoaciduria OMIM:222730
Necrotizing Enterocolitis
Peritonitis, Edema, Ascites, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Polycystic kidney dysplasia OMIM:263210
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Hypothyroidism, Nephrotic syndrome OMIM:617713
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Athyreosis
Hypothyroidism, Growth delay, Thyroid agenesis, Short stature ORPHA:95713
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Postnatal growth retardation, Increased circulating renin level,... ORPHA:556030
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Li-Campeau Syndrome
Cryptorchidism, Micropenis, Hypothyroidism, Short stature OMIM:619189
Nephrotic Syndrome, Type 1
Hypothyroidism, Growth delay, Glomerular sclerosis, Renal tubular atrophy, Renal insufficiency, D... OMIM:256300
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Harrod Syndrome
Hypospadias, Cryptorchidism, Renal cortical microcysts OMIM:601095
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Hepatic cysts, Pancreatic cysts, Stage 5 ch... OMIM:614377
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Hepatic steatosis, Growth delay, Hypothyroidism, Renal cyst, Renal insuffi... ORPHA:445038
Diarrhea 2, With Microvillus Atrophy
Dehydration, Growth delay OMIM:251850
Perlman Syndrome
Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Bardet-Biedl Syndrome 9
Renal insufficiency, Hyperglycemia OMIM:615986
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cystic renal dysplasia, Hepatomegaly, Ectopic kidney, Abnormality of the kidney OMIM:613730
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hypothyroidism, Hepatomegaly, Mild po... ORPHA:456312
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Renal cortical cysts, Rhizomelic arm shortening, Renal dysplasia, Rhizomelic... ORPHA:397715
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Liver abscess, Hepatomegaly, Jaundice, Cholangitis, Congenit... ORPHA:480520
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Long penis, Insulin resistance, Enlarged ovaries, Postprandial hyperglycemi... ORPHA:769
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Biliary atresia, Growth delay, Unilateral cryptorchidism, V... ORPHA:96149
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Adrenal hypoplasia, Albuminuria, Aminoaciduria, Intrahepatic biliary dysgenesis, ... OMIM:214100
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Biliary cirrhosis, Cholelithiasis, Cholestasis, Hepatic fibr... ORPHA:53035
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Edema OMIM:616069
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, H... ORPHA:730
Hawkinsinuria
Hypothyroidism, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria ORPHA:2118
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Beta-Thalassemia Intermedia
Cirrhosis, Hypothyroidism, Proximal tubulopathy, Hepatocellular carcinoma, Cholelithiasis, Hepato... ORPHA:231222
Diabetes Mellitus, Permanent Neonatal, 1
Intrauterine growth retardation, Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Short stature OMIM:617763
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Chronic Hiccup
Dehydration ORPHA:396
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Dehydration, Edema, Hyperglycemia ORPHA:134
Lactase Deficiency, Congenital
Dehydration OMIM:223000
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia, Hypothyroidism, Hypopituitarism ORPHA:90065
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... OMIM:615925
Odontochondrodysplasia 1
Mesomelic short stature, Nephronophthisis, Polycystic kidney dysplasia, Short stature OMIM:184260
Autoimmune Polyendocrinopathy Type 2
Graves disease, Primary adrenal insufficiency, Hashimoto thyroiditis, Abnormality of the thyroid ... ORPHA:3143
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Pearson Marrow-Pancreas Syndrome
Complex organic aciduria, 3-Methylglutaric aciduria, Pancreatic fibrosis, Type I diabetes mellitu... OMIM:557000
Thyroid Hypoplasia
Hypothyroidism, Growth delay, Jaundice, Short stature, Thyroid hypoplasia ORPHA:95720
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Fanconi Anemia, Complementation Group O
Cryptorchidism, Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Short stature OMIM:613390
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic hypogonadism, ... OMIM:203800
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pleural effusion, Steatorrhea, Pancreat... OMIM:167800
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Renal cyst OMIM:174050
Pearson Syndrome
Hydrops fetalis, Exocrine pancreatic insufficiency, Hepatic steatosis, Macronodular cirrhosis, Gr... ORPHA:699
Secondary Short Bowel Syndrome
Growth delay, Central hypothyroidism, Steatorrhea, Cholestasis, Dehydration, Primary hypothyroidism ORPHA:95427
Solitary Fibrous Tumor/Hemangiopericytoma
Abnormality of the peritoneum, Hypoglycemia, Neoplasm of the liver, Hypoinsulinemia, Recurrent hy... ORPHA:2126
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Goiter OMIM:274300
Distal Tetrasomy 15Q
Hydrocele testis, Horseshoe kidney, Nephroblastoma, Polycystic kidney dysplasia, Hydronephrosis, ... ORPHA:314588
Cryptosporidiosis
Growth delay, Biliary tract abnormality, Cholangitis, Dehydration, Pancreatitis ORPHA:1549
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Pancreatic cysts, Renal tubular atrophy, Renal corticomed... OMIM:613159
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrogenic diabetes insipidus, Giant cell hepatitis, Jaundice, Dehydration, Cholestatic liver di... OMIM:208085
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Chordee, Hypothyroidism, Bilateral cryptorchidism, Postnatal growth retardat... ORPHA:96179
Pseudohypoparathyroidism, Type Ic
Pseudohypoparathyroidism, Hypothyroidism, Low urinary cyclic AMP response to PTH administration, ... OMIM:612462
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Cryptorchidism, Renal hypoplasia, Hypothyroidism, Renal dysplasia, Short stature, Hypoplasia of p... ORPHA:85321
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hypothyroidism, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly, Delayed p... OMIM:616263
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Hepatic steatosis, Renal tubular atrophy, Hepatic ... OMIM:243910
Hemochromatosis Type 2
Hypogonadism, Diabetes mellitus, Congenital hepatic fibrosis, Abnormality of endocrine pancreas p... ORPHA:79230
Dysbetalipoproteinemia
Renal steatosis, Hepatic steatosis, Hypothyroidism, Acute pancreatitis, Hepatomegaly, Diabetes me... ORPHA:412
Mpi-Cdg
Lymphedema, Congenital hepatic fibrosis, Hypoglycemia ORPHA:79319
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hepatic steatosis, Hypopituitarism, Short stature, Hepatosplenomegaly OMIM:619013
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Cholestasis, Hepatic fibrosis, Renal dysplasia, Hepatomegaly, Rena... OMIM:266920
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Hypertonic dehydration, Glycosuria OMIM:606824
Syndromic Diarrhea
Cirrhosis, Renal hypoplasia, Hypothyroidism, Hypoplasia of the thymus, Hepatic fibrosis, Hepatome... ORPHA:84064
Lig4 Syndrome
Cryptorchidism, Hypothyroidism, Growth delay, Hepatomegaly, Type II diabetes mellitus, Hypoplasia... ORPHA:99812
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Neonatal death, Renal cyst OMIM:228940
Orofaciodigital Syndrome I
Ovarian cyst, Hepatic cysts, Pancreatic cysts, Hepatic fibrosis, Polycystic kidney dysplasia, Sho... OMIM:311200
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co... ORPHA:289548
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Horseshoe kidney, Renal hypoplasia, Hypothyroidism, Vesicoureteral ref... OMIM:609053
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis, Nephropathy ORPHA:3033
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Acute pancreatitis, Hepatomegaly, Jaundice, Dehydration, Edema, Recurren... ORPHA:20
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Type I diabetes mellitus, Pancreatitis, Type II diabetes mellitus, Hypogonadism, ... ORPHA:412057
Trisomy 17P
Urethral valve, Growth delay, Urethral stenosis, Hydronephrosis, Polycystic kidney dysplasia, Sho... ORPHA:261290
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co... ORPHA:168558
Short Syndrome
Glucose intolerance, Insulin-resistant diabetes mellitus, Birth length less than 3rd percentile, ... OMIM:269880
Gne Myopathy
Hypothyroidism ORPHA:602
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... OMIM:145650
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Insulin resistance, Renal hypoplasia, Hypothyroidism, Unilateral renal agenesis, ... OMIM:616541
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Hypothyroidism, Cholestasis, Hepatomegaly, Intrauterine growth retardation OMIM:608104
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Hypothyroidism, Low urinary cyclic AMP response to PTH administration, ... OMIM:103580
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism, Short stature, Hypoplasia of penis ORPHA:2491
Maternal Uniparental Disomy Of Chromosome 9
Intrauterine growth retardation, Congenital hypothyroidism ORPHA:96183
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Growth delay, Congenital hypothyroidism, Decreased response to growth hormone stimuation test, Hy... OMIM:601427
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Postnatal growth retardation, Insulin-resistant dia... OMIM:248370
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Neonatal hypoglycemia, Hypothyroidism, Growth delay, Bilateral ... ORPHA:66634
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Goiter, Hashimoto thyroiditis ORPHA:83601
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperl... OMIM:608612
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Hypothyroidism, Hypoplasia of the ovary, Decrease... OMIM:612885
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Ddost-Cdg
Nephrotic range proteinuria, Primary hypothyroidism, Hepatic steatosis, Short stature ORPHA:300536
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Growth delay, Congenital hypothyroidism, Increased T3/T4... OMIM:614450
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Hyperthyroidism, Familial Gestational
Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Short Rib-Polydactyly Syndrome
Nephronophthisis, Urogenital sinus anomaly, Hepatic cysts, Hepatic fibrosis, Abnormality of the l... ORPHA:1505
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Renal corticomedullary cysts, Tubulointers... OMIM:603860
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Congenital Hypothyroidism
Goiter, Anterior hypopituitarism, Hypothyroidism, Prolonged neonatal jaundice, Abnormality of the... ORPHA:442
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Decreased circulating T4 level, ... ORPHA:90673
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Increased level of galactitol in urine, Hyperinsulinemia, Hypogly... ORPHA:79237
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased circulating T4 level, Prolonged neonatal jaundice, Abnormality of thyroid physiology, R... ORPHA:95715
Microform Holoprosencephaly
Panhypopituitarism, Maternal diabetes, Hypothyroidism, Short stature, Hypoplasia of penis, Intrau... ORPHA:280200
Corticosterone Methyloxidase Type I Deficiency
Dehydration, Decreased circulating aldosterone level, Increased circulating renin level, Growth d... OMIM:203400
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration... ORPHA:361
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Increased circulating renin level, Hyperaldosteronism, Dehy... OMIM:177735
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Pseudohypoaldosteronism OMIM:264350
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Adrenal hypoplasia, Postnatal growth retardation, Hypercalciuria, Intrauterine gr... OMIM:614732
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Ureteral agenesis OMIM:236500
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Proportionate short stature, Hypothyroidism, Hypoglycemia, Delayed puberty, Intrauterine growth r... ORPHA:391408
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Hypothyroidism, Diabetes mellitus, Abnormality of the kidney ORPHA:391372
Autosomal Agammaglobulinemia
Hepatitis, Dehydration ORPHA:33110
Reticular Dysgenesis
Dehydration, Aplasia/Hypoplasia of the thymus ORPHA:33355
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Oligohydramnios, Postnatal growth retardation, Hepatomegaly, Dehydration, Neonata... ORPHA:96191
Dominant Beta-Thalassemia
Cirrhosis, Hypothyroidism, Hepatocellular carcinoma, Growth delay, Hypopituitarism, Hepatic fibro... ORPHA:231226
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Hepatitis, Type I diabetes mellitus, Hypothyroidism OMIM:304790
Lig4 Syndrome
Cryptorchidism, Micropenis, Hypothyroidism OMIM:606593
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Glutaric Aciduria Iii
Glutaric aciduria, Goiter, Hyperthyroidism OMIM:231690
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Micropenis, Polycystic kidney dysplasia, Pancreatic fibrosis OMIM:263520
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Pancreatic endocrine tumor, Pheochromocytoma, Hepatic cysts, Renal angio... ORPHA:805
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Hypothyroidism OMIM:251900
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypohidrosis, Hypothyroidism, Short stature ORPHA:1882
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Cholestasis, Renal tubular acidosis, Renal cyst, Cholestatic liver d... OMIM:610205
Oculoskeletodental Syndrome
Cryptorchidism, Mucopolysacchariduria, Hypothyroidism, Hepatomegaly, Hypercalciuria, Short statur... OMIM:618440
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Increased hepatic glycogen content, Tubulointerstitial fibrosis, Enlarged ... ORPHA:79259
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis OMIM:617056
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Delayed puberty, Short stature ORPHA:2994
Thyroid Ectopia
Hypothyroidism, Growth delay, Jaundice, Abnormality of the thyroid gland, Ectopic thyroid, Short ... ORPHA:95712
Hypothyroidism, Congenital, Nongoitrous, 4
Congenital hypothyroidism, Severe postnatal growth retardation OMIM:275100
Matthew-Wood Syndrome
Cryptorchidism, Horseshoe kidney, Renal hypoplasia, Abnormal spleen morphology, Vesicoureteral re... ORPHA:2470
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst, Stillbirth OMIM:263630
Familial Cold Urticaria
Dehydration, Hyperhidrosis ORPHA:47045
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Multiple renal cysts, Vesicoureteral reflux, Short stature, Renal hypoplasia/aplasia ORPHA:1166
Central Diabetes Insipidus
Diabetes insipidus, Dehydration ORPHA:178029
Senior-Loken Syndrome 8
Nephronophthisis, Pancreatic cysts, Hepatic cysts OMIM:616307
Beta-Thalassemia Major
Cirrhosis, Hypothyroidism, Hepatocellular carcinoma, Growth delay, Hypopituitarism, Hepatic fibro... ORPHA:231214
Developmental And Epileptic Encephalopathy 90
Hypothyroidism, Fetal pyelectasis OMIM:301058
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Multicystic kidney dysplasia, Cholestasis, Stage 5 chronic k... OMIM:267010
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Cystic renal dysplasia, Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly,... OMIM:615415
Pyruvate Carboxylase Deficiency
Growth delay, Hypoglycemia, Hepatomegaly, Dehydration, Hyperglycemia ORPHA:3008
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Duodenal Atresia
Polyhydramnios, Abnormality of the pancreas, Annular pancreas ORPHA:1203
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration OMIM:143860
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroi... OMIM:615108
Bardet-Biedl Syndrome 17
Hypogonadism, Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... ORPHA:363400
Omenn Syndrome
Thyroiditis, Hypothyroidism, Hepatomegaly, Nephrotic syndrome, Splenomegaly ORPHA:39041
Campomelia, Cumming Type
Multiple renal cysts, Pancreatic cysts, Multicystic kidney dysplasia, Hepatomegaly, Abnormality o... ORPHA:1318
Phelan-Mcdermid Syndrome
Polycystic kidney dysplasia, Vesicoureteral reflux, Abnormality of the kidney, Hypohidrosis OMIM:606232
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Methimazole Embryofetopathy
Intrauterine growth retardation, Hypospadias, Abnormality of the thyroid gland, Hypothyroidism ORPHA:1923
Melas
Focal segmental glomerulosclerosis, Hypothyroidism, Proximal tubulopathy, Nephropathy, Recurrent ... ORPHA:550
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Growth delay, Hyperactive renin-angiotensin system, Hyperaldosteronism, Dehydration OMIM:214700
Cystinosis, Nephropathic
Hypohidrosis, Male hypogonadism, Exocrine pancreatic insufficiency, Growth delay, Glycosuria, Hep... OMIM:219800
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypothyroidism, Hashimoto thyroiditis, Hepatomegaly, Hepatitis, Type I diabetes mellitus, Hypersp... OMIM:613385
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Intrahepatic Cholestasis Of Pregnancy
Hypothyroidism, Abnormal pineal melatonin secretion, Jaundice, Abnormality of the pancreas, Chole... ORPHA:69665
Dopamine Beta-Hydroxylase Deficiency
Dehydration, Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
Dend Syndrome
Hyperglycemia, Dehydration ORPHA:79134
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Intrauterine growth retardatio... OMIM:600001
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration, Growth delay OMIM:602722
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Hypoglycemia, Short stature, Intrauterine growth retardation, Nephrocalcinosis OMIM:618005
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Enlarged ovaries, Insul... ORPHA:508
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroi... OMIM:615109
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Hepatic cysts, Abnormality of the testis size, Abnormality of t... ORPHA:400
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Congenital Disorder Of Glycosylation, Type Ia
Hypergonadotropic hypogonadism, Hepatic steatosis, Proximal tubulopathy, Hypothyroidism, Hepatic ... OMIM:212065
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Hypothyroidism, Cholangitis, Hepatitis, Type I diabetes mellitus, Hypersp... ORPHA:228426
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Joubert Syndrome 5
Nephronophthisis, Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kid... OMIM:610188
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Growth delay, Portal hypertension, Unilateral renal agenesis, Hepati... OMIM:216360
Shigellosis
Peritonitis, Splenic abscess, Hypoglycemia, Cholestasis, Dehydration ORPHA:810
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimuation test ORPHA:324737
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
4H Leukodystrophy
Delayed puberty, Short stature, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology,... ORPHA:289494
Stiff Person Spectrum Disorder
Hypothyroidism, Diabetes mellitus, Hyperhidrosis ORPHA:3198
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 level, Growth delay, Pituitary hypothyroidism, Prolonged neonatal jaundi... ORPHA:99832
Interstitial Lung And Liver Disease
Cirrhosis, Hepatic steatosis, Hypothyroidism, Aminoaciduria, Hepatomegaly OMIM:615486
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Hepatic... OMIM:604387
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Growth delay, Adrenal insufficiency, Elevated hepatic iron concentration, Hypogon... ORPHA:300298
Meckel Syndrome, Type 1
Cryptorchidism, Accessory spleen, Hypoplasia of the bladder, Adrenal hypoplasia, Malformation of ... OMIM:249000
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hepatic steatosis, Renal tubular acidosis, Renal dysplasia, Hepatomegaly, Renal... OMIM:614922
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Hypothyroidism, Growth delay, Recurrent urinary tract infections, Delayed puberty, Short stature,... OMIM:619234
Fucosidosis
Mucopolysacchariduria, Hypothyroidism, Hepatomegaly, Hyperhidrosis, Abnormality of the gallbladder ORPHA:349
Potocki-Lupski Syndrome
Hypothyroidism, Abnormal renal morphology, Short stature OMIM:610883
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Dehydration OMIM:251110
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Intrauterine growth retardation, Hyposp... OMIM:601346
Isolated Biliary Atresia
Cirrhosis, Dark yellow urine, Atretic gallbladder, Hypothyroidism, Periportal fibrosis, Hypopitui... ORPHA:30391
Transketolase Deficiency
Proportionate short stature, Increased level of ribose in urine, Hepatomegaly, Type I diabetes me... ORPHA:488618
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Hypohidrosis, Abnormality of the hypothalamus-pituitary axis, Premature ... ORPHA:293987
Koolen-De Vries Syndrome
Cryptorchidism, Hypothyroidism, Vesicoureteral reflux, Hydronephrosis, Short stature, Hypospadias... ORPHA:96169
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Jaundice, Chro... OMIM:208500
Intellectual Disability-Strabismus Syndrome
Cryptorchidism, Hypohidrosis, Decreased serum insulin-like growth factor 1, Hypothyroidism, Short... ORPHA:363528
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia, Short stature, Micropenis OMIM:613091
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycys... ORPHA:528
Mental Retardation, X-Linked, Syndromic, Martin-Probst Type
Cryptorchidism, Chordee, Hypothyroidism, Hypoplastic nipples, Short stature, Renal insufficiency,... OMIM:300519
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoketotic hypoglyc... ORPHA:71212
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Dehydration OMIM:251100
Von Hippel-Lindau Syndrome
Multiple renal cysts, Pheochromocytoma, Pancreatic cysts, Renal cell carcinoma, Paraganglioma, Ne... OMIM:193300
Beckwith-Wiedemann Syndrome
Cryptorchidism, Pseudohypoparathyroidism, Hypercalciuria, Vesicoureteral reflux, Adrenocortical c... ORPHA:116
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Acrorenal-Mandibular Syndrome
Absent nipple, Abnormality of the ureter, Polycystic kidney dysplasia, Intrauterine growth retard... OMIM:200980
Verheij Syndrome
Renal hypoplasia, Growth delay, Renal cyst, Short stature, Renal agenesis OMIM:615583
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Hy... ORPHA:1834
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Microvesicular hepatic steatosis, Glutaric aciduria, 3-Methylglutaric aciduria, D... OMIM:610198
19P13.12 Microdeletion Syndrome
Cryptorchidism, Hepatic steatosis, Hypothyroidism, Intrauterine growth retardation, Hypospadias, ... ORPHA:254346
Cystic Fibrosis
Cirrhosis, Exocrine pancreatic insufficiency, Biliary cirrhosis, Steatorrhea, Hepatomegaly, Dehyd... OMIM:219700
Joubert Syndrome 20
Renal cyst OMIM:614970
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis OMIM:614175
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes me... ORPHA:79086
22Q11.2 Deletion Syndrome
Cryptorchidism, Multiple renal cysts, Renal hypoplasia, Hypothyroidism, Cholelithiasis, Hypoplasi... ORPHA:567
Meckel Syndrome, Type 2
Intrauterine growth retardation, Bile duct proliferation, Renal cyst OMIM:603194
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Megacystis, Growth delay, Elevated circulating thyroid-stimulating ho... ORPHA:209905
Hyperparathyroidism-Jaw Tumor Syndrome
Thyroid carcinoma, Hypercalciuria, Abnormality of the parathyroid morphology, Nephroblastoma, Ren... ORPHA:99880
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Growth delay, Hypoglycemia, Jaundice, Dehydration, Intrauterine growth retardation ORPHA:79282
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Premature pubarche, Premature adrenarche, Small pituitary gland, Central hypothyr... ORPHA:398079
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Goiter, Hypothyroidism, Growth delay, Elevated circulating thyroid-stimulating ... OMIM:218700
Ring Chromosome 12 Syndrome
Glandular hypospadias, Cryptorchidism, Breast hypoplasia, Hypothyroidism, Growth delay ORPHA:1439
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Nephronophthisis 11
Nephronophthisis, Growth delay, Polyuria, Renal tubular atrophy, Hepatic fibrosis, Renal corticom... OMIM:613550
Bardet-Biedl Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hepatic fibrosis, Nephrotic syndrome, Short stature... ORPHA:110
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Microvesicular hepatic steatosis, Primary adrenal insufficienc... ORPHA:275761
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cryptorchidism,... OMIM:101800
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Ovarian carcinoma, Thyroid a... OMIM:158350
Femoral-Facial Syndrome
Cryptorchidism, Maternal diabetes, Abnormal renal collecting system morphology, Polycystic kidney... OMIM:134780
Allan-Herndon-Dudley Syndrome
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:300523
Scorpion Envenomation
Glycosuria, Acute pancreatitis, Edema, Pulmonary edema, Hyperhidrosis, Hyperglycemia ORPHA:466677
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Growth delay, Streak ovary, Insulin-resistant diabetes mellitus... ORPHA:3464
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Nephropathy, Renal cyst OMIM:611773
Isovaleric Acidemia
Dehydration OMIM:243500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Renal cyst, Hydronephrosis, Decreased testicular size, Micropenis OMIM:615287
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalciuria, Abnormality of the parathyroid morphology, Nephroblastoma,... ORPHA:143
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Growth delay, Nephropathy, Micro... ORPHA:1830
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Multicystic kidney dysplasia, Hepatic fibrosis, Hepatom... OMIM:607361
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Renal cyst, Short stature, Multicystic kidney dysplasia ORPHA:2031
Birt-Hogg-Dube Syndrome
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism ORPHA:88643
Mckusick-Kaufman Syndrome
Cryptorchidism, Hydroureter, Vesicovaginal fistula, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Ulbright-Hodes Syndrome
Cryptorchidism, Maternal diabetes, Renal hypoplasia, Abnormal penis morphology, Postnatal growth ... ORPHA:3404
Autosomal Dominant Optic Atrophy, Classic Form
Hypothyroidism, Hypogonadism, Diabetes mellitus ORPHA:98673
Congenital Tufting Enteropathy
Dehydration, Cholestatic liver disease, Steatorrhea ORPHA:92050
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema ORPHA:103910
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Yellow Fever
Jaundice, Dehydration ORPHA:99829
Fragile X Tremor/Ataxia Syndrome
Urinary incontinence, Hypothyroidism, Premature ovarian insufficiency OMIM:300623
Poems Syndrome
Primary adrenal insufficiency, Hypothyroidism, Increased circulating prolactin concentration, Hyp... ORPHA:2905
Microsporidiosis
Peritonitis, Prostatitis, Adrenocortical abnormality, Thyroiditis, Biliary tract abnormality, Abn... ORPHA:2552
Floating-Harbor Syndrome
Cryptorchidism, Renal agenesis, Growth delay, Hydronephrosis, Renal cyst, Stage 5 chronic kidney ... ORPHA:2044
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Diabetes insipidus, Hepa... OMIM:225750
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatomegaly OMIM:602579
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Primary hyperparathyroidism, Pancreatitis, Parathormone-independent increased rena... OMIM:600740
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Thyroiditis, Hepatosplenomegaly, Type I diabetes mellitus, Hypothyroidism OMIM:606367
Lamellar Ichthyosis
Dehydration, Short stature ORPHA:313
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central... ORPHA:98754
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism ORPHA:352530
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Monosomy 18P
Hypothyroidism, Short stature ORPHA:1598
Smith-Magenis Syndrome
Hypothyroidism, Abnormal localization of kidney, Abnormality of the ureter, Delayed puberty, Shor... ORPHA:819
Immunodeficiency, Common Variable, 8, With Autoimmunity
Thyroiditis, Growth delay, Hypothyroidism, Type I diabetes mellitus, Splenomegaly OMIM:614700
Spondyloenchondrodysplasia
Hematuria, Proteinuria, Hypothyroidism, Hepatitis, Disproportionate short-trunk short stature, Ch... ORPHA:1855
15q26 overgrowth syndrome
Horseshoe kidney, Vesicoureteral reflux, Duplication of renal pelvis, Hydronephrosis, Polycystic ... DECIPHER:81
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central... ORPHA:98793
Prune Belly Syndrome
Cryptorchidism, Urogenital sinus anomaly, Hydroureter, Decreased testicular size, Recurrent urina... ORPHA:2970
Vacterl/Vater Association
Cryptorchidism, Renal agenesis, Multicystic kidney dysplasia, Intrauterine growth retardation, Ab... ORPHA:887
Familial Gestational Hyperthyroidism
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:99819
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Mild proteinuria, Hypothyroidism, Growth delay, Hypospadias, Renal insufficiency OMIM:619147
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Pallister-Hall Syndrome
Cryptorchidism, Panhypopituitarism, Adrenal hypoplasia, Hydroureter, Renal hypoplasia, Decreased ... OMIM:146510
Alveolar Echinococcosis
Abnormality of mesentery morphology, Hepatic cysts, Pancreatic cysts, Biliary cirrhosis, Abnormal... ORPHA:284
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central... ORPHA:177904
Roberts Syndrome
Cryptorchidism, Long penis, Severe intrauterine growth retardation, Postnatal growth retardation,... ORPHA:3103
Tuberous Sclerosis 1
Hypothyroidism, Renal angiomyolipoma, Adenoma sebaceum, Renal cell carcinoma, Renal cyst, Precoci... OMIM:191100
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central... ORPHA:177901
Whipple Disease
Hepatomegaly, Hypothyroidism, Splenomegaly, Insulin resistance ORPHA:3452
Atypical Werner Syndrome
Ovarian neoplasm, Fasting hyperinsulinemia, Abnormal testis morphology, Hyperinsulinemia, Hepatic... ORPHA:79474
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating r... OMIM:601678
Mccune-Albright Syndrome
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hyperthy...