Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cholinergic receptor, muscarinic 3, cardiac
Synonyms:
Chrm-3,  muscarinic acetylcholine receptor 3,  M3R

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 Chrm3 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 Chrm3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Chrm3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis, Megacystis, Recurrent urinary tract infections, Oligohydramnios, Nephrolithiasis, Hypo... OMIM:619365
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... ORPHA:314811
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Ascites, Bladder fistula, Oligohydra... ORPHA:105
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Adrenomyodystrophy
Abnormality of the urinary system, Failure to thrive, Megacystis, Megalocornea, Primary adrenal i... ORPHA:977
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Intestinal Botulism
Xerostomia, Mydriasis, Diarrhea, Dysphagia ORPHA:178481
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Gastroesophageal reflux, Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic k... OMIM:191800
Iatrogenic Botulism
Mydriasis, Xerostomia, Urinary retention, Constipation, Dysphagia ORPHA:254509
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Vomiting, Failure to thrive, Megacystis, Constipation, Polyuria, Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Vomiting, Failure to thrive, Megacystis, Constipation, Polyuria, Hypertonic dehydration OMIM:304800
Inhalational Botulism
Mydriasis, Diarrhea, Xerostomia, Urinary retention, Constipation ORPHA:254504
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Aids Wasting Syndrome
Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration, Anorexia ORPHA:90081
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Botulism
Mydriasis, Diarrhea, Xerostomia, Urinary retention, Constipation, Dysphagia ORPHA:1267
Riboflavin Deficiency
Hypothermia, Hypoglycemia OMIM:615026
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, H... OMIM:232700
Foodborne Botulism
Mydriasis, Diarrhea, Xerostomia, Urinary retention, Constipation, Dysphagia ORPHA:228371
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Hypoglycemia OMIM:610006
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Adrenocorticotropi... ORPHA:100083
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Wound Botulism
Mydriasis, Constipation, Dysphagia, Urinary retention ORPHA:178475
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced ... OMIM:262400
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Mantle Cell Lymphoma
Fever, Weight loss, Splenomegaly, Anorexia ORPHA:52416
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas... ORPHA:438274
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Oligohydramnios, Hydroureter, Megacystis OMIM:619431
Infant Botulism
Mydriasis, Xerostomia, Constipation, Keratoconjunctivitis sicca, Anorexia, Dysphagia, Bowel incon... ORPHA:178478
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Visceral Myopathy 2
Gastroesophageal reflux, Megacystis, Gastroparesis, Esophagitis, Ineffective esophageal peristals... OMIM:619350
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... OMIM:606762
Toxin-Mediated Infectious Botulism
Mydriasis, Constipation, Dysphagia ORPHA:230800
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter, Polyhydramnios ORPHA:1450
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, C... ORPHA:84085
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin ... ORPHA:324575
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency OMIM:613364
Visceral Myopathy 1
Vomiting, Diarrhea, Urinary retention, Megacystis, Gastroparesis, Vesicoureteral reflux, Hydronep... OMIM:155310
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71526
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... OMIM:262700
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Inflammatory Pseudotumor Of The Liver
Fever, Biliary tract abnormality, Neoplasm of the liver, Cirrhosis, Weight loss, Diabetes mellitu... ORPHA:90003
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Mydriasis, Anuria, Megacystis, Pyelonephritis, Oligohydramnios,... OMIM:619351
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... ORPHA:95717
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia, Failure to thrive, Hyperhidrosis, Hypoglycemia OMIM:245400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276580
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Constipati... OMIM:236730
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Undifferentiated Pleomorphic Sarcoma
Weight loss, Fever, Abnormal peritoneum morphology, Anorexia ORPHA:2023
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract ORPHA:39044
Pulmonary Blastoma
Weight loss, Fever ORPHA:64741
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276575
Spastic Paraplegia 83, Autosomal Recessive
Dysphagia, Urinary urgency OMIM:619027
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Solitary Fibrous Tumor
Fever, Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Weight loss, Abnormal periton... ORPHA:2126
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis, Polyhydramnios, Hypoperistalsis ORPHA:2241
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... ORPHA:226313
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia OMIM:610947
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, A... OMIM:620211
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased a... ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Excessive in... ORPHA:276556
Autosomal Dominant Spastic Paraplegia Type 4
Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100985
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Failure to thrive, ... OMIM:617872
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Serotonin Syndrome
Mydriasis, Diarrhea, Hyperhidrosis, Nausea, Restlessness, Agitation ORPHA:43116
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Hypertriglyceridemia, Reduced subcutaneous... ORPHA:280356
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Polydipsia ORPHA:30925
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... OMIM:275000
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Cat-Eye Syndrome
Chorioretinal coloboma, Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney... ORPHA:195
Familial Visceral Myopathy
Hyperparathyroidism, Vesicoureteral reflux, Hydroureter, Megacystis ORPHA:2604
Timothy Syndrome
Hypothyroidism, Hypothermia, Hypoglycemia OMIM:601005
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Failure to thrive, Increased circul... ORPHA:90674
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Miller Fisher Syndrome
Mydriasis, Vomiting, Dysphagia, Anisocoria ORPHA:98919
Prune Belly Syndrome
Xerostomia, Hydroureter, Oligohydramnios, Hydronephrosis, Slow pupillary light response, Congenit... OMIM:100100
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fever, Splenomegaly, Weight loss, Hyperhidrosis, Anorexia, Hepatomegaly ORPHA:86893
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Small for gestational age OMIM:300076
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Spastic Paraplegia 31, Autosomal Dominant
Dysphagia, Urinary urgency OMIM:610250
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Hypothermia... ORPHA:226307
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Spastic Paraplegia 72A, Autosomal Dominant
Urinary bladder sphincter dysfunction OMIM:615625
Central Diabetes Insipidus
Diarrhea, Polydipsia, Dehydration, Anorexia ORPHA:178029
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrhosis, Hypoglycemi... OMIM:251880
Familial Cold Urticaria
Conjunctivitis, Polydipsia, Hyperhidrosis, Dehydration ORPHA:47045
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, F... ORPHA:35878
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Renal agenesis, Ureterocele, Megacystis, Xerostomia, Decreased response to growth ho... OMIM:604292
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Alternating Hemiplegia Of Childhood
Mydriasis, Diarrhea, Vomiting, Oral-pharyngeal dysphagia, Dehydration, Aggressive behavior, Const... ORPHA:2131
Megabladder, Congenital
Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys OMIM:618719
Glucocorticoid Deficiency 1
Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin... OMIM:202200
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:913
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... ORPHA:90673
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Brain-Lung-Thyroid Syndrome
Failure to thrive, Megacystis, Congenital hypothyroidism, Vesicoureteral reflux, Compensated hypo... ORPHA:209905
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Recurrent hypoglycemia, Hypothermia, Lipid accumulation in hepatocytes, Weight loss, Nonke... ORPHA:20
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Obesity, Hypothermia, Hepa... ORPHA:26793
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Spastic Paraplegia 13, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:605280
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Metachromatic Leukodystrophy
Mental deterioration, Gallbladder dysfunction, Cholecystitis, Decreased nerve conduction velocity OMIM:250100
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypothermia, Hypoglycemia ORPHA:230
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypoglycemia, Hypothermia, Macrovesicular hepatic steatosis, Bile duct prolife... OMIM:618329
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Fever, Hypoglycemia, Recurrent fever, Adrenal hyperplasia, Elevated circulating 21-deoxycortisol ... OMIM:201910
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Generalized edema, Oligohydramnios, Hydroureter, Fetal megacystis OMIM:249210
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Reduced subcutaneous adipose tissue, Cachexia, Weight loss, Lipodystrop... ORPHA:1979
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Failure to thrive in infancy, Vesicoureteral reflux ORPHA:85285
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Meningococcal Meningitis
Fever, Increased circulating procalcitonin concentration, Hypothermia, Anorexia ORPHA:33475
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Autosomal Spastic Paraplegia Type 72
Urinary bladder sphincter dysfunction ORPHA:401849
Diarrhea 13
Hepatic steatosis, Failure to thrive, Recurrent hypoglycemia OMIM:620357
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hyperhidrosis, Hypoglycemia ORPHA:231147
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Pituitary Apoplexy
Mydriasis, Increased circulating cortisol level, Increased circulating prolactin concentration, H... ORPHA:95613
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Erythrokeratodermia Variabilis
Weight loss, Diabetes mellitus ORPHA:317
Spastic Paraplegia 19, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607152
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Arachnoid Cyst
Urinary incontinence, Nausea, Mydriasis, Urinary bladder sphincter dysfunction ORPHA:2356
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hypothermia, Fasting hypoglycemia ORPHA:159
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hypoglycemia, Hyperlipidemia, Increased hep... ORPHA:369
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Smooth Muscle Dysfunction Syndrome
Mydriasis, Hypoperistalsis OMIM:613834
Spastic Paraplegia 12, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604805
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Spontaneous Periodic Hypothermia
Hypothermia, Hyperhidrosis ORPHA:29822
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ... ORPHA:293987
Spastic Paraplegia 8, Autosomal Dominant
Urinary incontinence, Dysphagia, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:603563
Cocaine Intoxication
Acute kidney injury, Vomiting, Mydriasis, Hematuria, Proteinuria, Pulmonary edema, Nausea, Glomer... ORPHA:90068
Alexander Disease
Precocious puberty, Self-injurious behavior, Failure to thrive, Hypothermia, Hypothyroidism, Hype... ORPHA:58
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Decreased body weight, Hyperhidrosis, Neonatal hypoglycemia, Small for gestational age ORPHA:231140
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Bullous Pemphigoid
Weight loss, Diabetes mellitus ORPHA:703
N-Acetylglutamate Synthase Deficiency
Aggressive behavior, Hypothermia, Failure to thrive, Anorexia OMIM:237310
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Abnormal circulating leptin co... ORPHA:2298
Intellectual Disability-Alacrima-Achalasia Syndrome
Aggressive behavior, Anisocoria, Achalasia, Dysphagia ORPHA:289483
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Abnormality of adrenal physiology, Anisocoria, Achalasia OMIM:300858
8P23.1 Duplication Syndrome
Hydronephrosis, Adrenal insufficiency ORPHA:251076
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Orthostatic Hypotension 1
Intermittent hypothermia, Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Hepa... ORPHA:79237
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hepatitis, Hypoglycemia, Adrenocorti... ORPHA:199299
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Primary Erythromelalgia
Hypothermia ORPHA:90026
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Obesity OMIM:615996
Scorpion Envenomation
Acute kidney injury, Diarrhea, Ketonuria, Glycosuria, Vomiting, Mydriasis, Pulmonary edema, Hyper... ORPHA:466677
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Astigmatism, Cataract OMIM:615986
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Weight loss, Increased circulating free T4 concen... OMIM:613239
Progressive Nodular Histiocytosis
Cachexia, Fever ORPHA:158022
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux, Nonimmune hydrops fetalis, Decreased body weight OMIM:618265
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia ORPHA:67048
Aredyld Syndrome
Type I diabetes mellitus, Abnormal dental enamel morphology, Type II diabetes mellitus, Splenomeg... ORPHA:1133
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:94086
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... ORPHA:1332
Autosomal Dominant Spastic Paraplegia Type 13
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100994
2P21 Microdeletion Syndrome
Hypogonadism, Failure to thrive, Hypoglycemia ORPHA:163693
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Pediatric-Onset Graves Disease
Diarrhea, Polydipsia, Graves disease, Keratitis, Oligohydramnios, Increased circulating free T3, ... ORPHA:525731
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia ORPHA:2089
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Fever, Hypoglycemia OMIM:620137
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Spastic Paraplegia 37, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:611945
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Cachexia, Hyperhidrosis, Decreased body weight ORPHA:1672
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia, Inguinal hernia, Joint contracture OMIM:614498
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... ORPHA:97289
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Spinocerebellar Ataxia Type 25
Vomiting, Urinary urgency ORPHA:101111
Spastic Paraplegia 6, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:600363
Cystinosis
Vomiting, Polydipsia, Hypothyroidism, Corneal opacity, Motor stereotypy, Dehydration ORPHA:213
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Reticular Dysgenesis
Fever, Weight loss, Aplasia/Hypoplasia of the thymus, Failure to thrive ORPHA:33355
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Hypoglycemia, Hepatic steatosis, Hypothermia, Aggressive behavior, Hyperhidros... ORPHA:17
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Congenital Myopathy 19
Hydronephrosis, Renal atrophy, Dysphagia OMIM:618578
Nephronophthisis 3
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... OMIM:604387
Microcoria, Congenital
Miosis, Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections OMIM:619218
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity, Enuresis OMIM:613670
Flynn-Aird Syndrome
Cachexia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland ORPHA:2047
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Hemochromatosis, Type 4
Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitus, Impaired gluc... OMIM:606069
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gestational age, Pancreatic isl... ORPHA:263455
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Failure to thrive, Decreased response to growth hormone stimulation te... OMIM:609757
Osteopetrosis, Autosomal Recessive 5
Ascites, Mydriasis OMIM:259720
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss, Dysphagia ORPHA:2198
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Somatostatinoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... ORPHA:97283
Familial Pancreatic Carcinoma
Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg... ORPHA:1333
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Pterygium, Renal duplication, ... ORPHA:79403
Achalasia, Familial Esophageal
Xerostomia, Keratoconjunctivitis sicca, Achalasia OMIM:200400
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Anorexia, Cirrhosis, Pancreatitis, Weight loss, Acholi... ORPHA:65682
Spastic Paraplegia 3, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:182600
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Polyhydramnios, Fetal megacystis OMIM:619362
Al-Gazali Syndrome
Failure to thrive, Polyhydramnios, Hydronephrosis, Corneal opacity, Sclerocornea OMIM:609465
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607565
Xq28 (MECP2) duplication
Gastroesophageal reflux, Functional abnormality of the bladder, Failure to thrive, Constipation, ... DECIPHER:45
Intellectual Developmental Disorder, X-Linked 90
Enuresis OMIM:300850
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:151660
Interstitial Cystitis
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... ORPHA:37202
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Elbow flexion contracture, Obesity, Hypothermia, Hip contracture, Abnormality of temperatu... OMIM:618493
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... OMIM:201400
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad... ORPHA:95496
Multicentric Reticulohistiocytosis
Cachexia, Fever ORPHA:139436
Isaacs Syndrome
Weight loss, Hyperhidrosis ORPHA:84142
Beta-Ketothiolase Deficiency
Fever, Hypoglycemia, Hyperglycemia, Oral aversion, Weight loss, Anorexia, Hepatomegaly, Agitation ORPHA:134
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Spastic Paraplegia 36, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:613096
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Umbilical hernia, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Reduced ... OMIM:608594
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Lipoatrophy, Increased adipose tissue around the... ORPHA:280365
Familial Hyperaldosteronism Type I
Nausea, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism ORPHA:403
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia ORPHA:364
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Mu-Heavy Chain Disease
Hepatomegaly, Fever, Weight loss, Splenomegaly ORPHA:100024
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Sepsis In Premature Infants
Temperature instability, Fever, Splenomegaly, Hypothermia, Decreased body weight, Hepatomegaly, J... ORPHA:90051
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Helix Syndrome
Hyperparathyroidism, Xerostomia, Polydipsia, Hypohidrosis, Anhidrosis OMIM:617671
Classic Hodgkin Lymphoma
Fever, Splenomegaly, Weight loss, Hyperhidrosis, Anorexia, Hepatomegaly ORPHA:391
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Oligohydramnios, Renal hyp... ORPHA:2973
Follicular Lymphoma
Fever, Weight loss, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency OMIM:618878
Short Syndrome
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Weight loss, Lipodystroph... ORPHA:3163
Laron Syndrome
Hypoglycemia, Hypohidrosis, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality o... ORPHA:633
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... OMIM:218700
Wolman Disease
Fever, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Cachexia, Hepatomegaly, Steato... ORPHA:75233
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Astigmatism OMIM:619797
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Hyp... ORPHA:465508
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Pfapa Syndrome
Hepatomegaly, Weight loss, Abnormality of temperature regulation, Splenomegaly ORPHA:42642
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Polyhydramnios, Edema OMIM:607598
Hypercalcemia, Infantile, 1
Weight loss, Decreased circulating parathyroid hormone level, Failure to thrive OMIM:143880
Wolfram Syndrome 1
Cataract, Hydroureter, Hydronephrosis, Hypothyroidism, Neurogenic bladder, Dysphagia OMIM:222300
Trisomy 13
Cataract, Abnormality of the ureter, Aplasia/Hypoplasia of the iris, Displacement of the urethral... ORPHA:3378
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... ORPHA:399
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract, Gastrointestinal hemorrhage, Intestinal o... ORPHA:873
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Small f... OMIM:615935
Zellweger Syndrome
Cataract, Multicystic kidney dysplasia, Failure to thrive, Primary adrenal insufficiency, Hydrone... ORPHA:912
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Cholelithiasis, Small for gestational age OMIM:618775
Huntington Disease-Like 2
Weight loss ORPHA:98934
Nephronophthisis 9
Polydipsia OMIM:613824
Glycogen Storage Disease Ixc
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ... OMIM:613027
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder ORPHA:2571
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Hyperhidrosis ORPHA:2151
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremic dehydration, Constipation, Anorexia, Polyhydramnios ORPHA:223
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Neuromyelitis Optica Spectrum Disorder
Nausea, Functional abnormality of the bladder ORPHA:71211
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Webb-Dattani Syndrome
Gastroesophageal reflux, Decreased response to growth hormone stimulation test, Obesity, Vesicour... OMIM:615926
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Developmental cataract, Myopic astigmatism OMIM:620141
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Menkes Disease
Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Umbilical hernia, Inguinal hernia, Hy... ORPHA:565
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Gastroesophageal reflux, Abnormality of the ureter, Oligohydra... ORPHA:1834
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Splenomegaly, R... OMIM:269700
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:424
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ascites, Pleural effusion, Polyhydramnios, Hydronephrosis, Micropenis, Hydrops fetalis, Hypospadi... OMIM:616897
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Increased circulating ACTH level... ORPHA:97287
Pleural Mesothelioma
Hepatomegaly, Weight loss, Dysphagia ORPHA:50251
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Spastic Paraplegia 29, Autosomal Dominant
Vomiting, Urinary hesitancy, Nocturia, Urinary incontinence, Urinary urgency OMIM:609727
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Hypothermia, Failure to thrive, Hypoglycemia ORPHA:79282
Familial Hyperaldosteronism Type Iii
Nausea, Polydipsia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:251274
Acute Adrenal Insufficiency
Failure to thrive, Hypoglycemia, Androgen insufficiency, Increased circulating ACTH level, Primar... ORPHA:95409
Acquired Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Weight loss ORPHA:95626
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive OMIM:613735
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Decreased ... ORPHA:199296
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Failure to thriv... ORPHA:99885
Yao Syndrome
Diarrhea, Xerostomia, Nephrolithiasis, Weight loss, Keratoconjunctivitis sicca, Uveitis OMIM:617321
Distal Duplication 6P
Hydronephrosis, Cataract, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Whipple Disease
Gastrointestinal hemorrhage, Diarrhea, Polydipsia, Hypothyroidism, Anorexia, Pedal edema, Uveitis ORPHA:3452
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatic steatosis, Cachexia, Distal arthrogryposis, Hepatomegaly ORPHA:42
Spastic Paraplegia 89, Autosomal Recessive
Functional abnormality of the bladder OMIM:620379
Spastic Paraplegia 10, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604187
Spastic Paraplegia 11, Autosomal Recessive
Urinary bladder sphincter dysfunction, Obesity, Urinary incontinence, Dysphagia, Urinary urgency OMIM:604360
Hemochromatosis, Neonatal
Hepatic fibrosis, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neonat... OMIM:231100
Spastic Paraplegia 4, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:182601
Addison Disease
Thymoma, Type I diabetes mellitus, Failure to thrive, Androgen insufficiency, Hypoglycemia, Adren... ORPHA:85138
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Oligohydramnios, Increased ... OMIM:618494
Renpenning Syndrome
Cachexia, Diabetes mellitus ORPHA:3242
Lower Urinary Tract Obstruction, Congenital
Vesicoureteral reflux, Urinary incontinence, Pollakisuria, Congenital posterior urethral valve, U... OMIM:618612
Glucagonoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97280
Plague
Inflammation of the large intestine, Diarrhea, Vomiting, Mydriasis, Conjunctival hyperemia, Enter... ORPHA:707
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Vomiting, Aplasia of ... ORPHA:158684
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Vesicoureteral reflux, Polyhydramnios, Astigmatism, Hydronephrosis, Micropenis, Corneal opacity, ... OMIM:301056
Spastic Paraplegia 16, X-Linked
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:300266
Familial Dysautonomia
Gastroesophageal reflux, Abnormal pupil morphology, Renal insufficiency, Heterochromia iridis, Gl... ORPHA:1764
Panhypophysitis
Secondary growth hormone deficiency, Polydipsia, Adrenocorticotropin deficient adrenal insufficie... ORPHA:95513
Congenital Enterovirus Infection
Cholestasis, Fever, Hypothermia, Hepatitis ORPHA:292
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Splen... ORPHA:2905
Immunodeficiency 27A
Fever, Hepatosplenomegaly, Splenomegaly, Weight loss, Anorexia OMIM:209950
Autosomal Dominant Spastic Paraplegia Type 73
Urinary incontinence, Urinary urgency ORPHA:444099
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Menkes Disease
Hypothermia OMIM:309400
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hypoglycemia, Fever, Abnormal circulating androgen level, Increased circulatin... ORPHA:90790
Riboflavin Transporter Deficiency
Hypogonadism, Aggressive behavior, Cachexia, Diabetes insipidus, Dysphagia ORPHA:97229
Bickerstaff Brainstem Encephalitis
Mydriasis, Anisocoria ORPHA:79138
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:5
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Urinary hesitancy OMIM:126200
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs... ORPHA:49041
Acute Monoblastic/Monocytic Leukemia
Weight loss, Central hypothyroidism, Fever, Anorexia ORPHA:514
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Focal Myositis
Weight loss, Fever ORPHA:48918
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:99819
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Polydipsia OMIM:613677
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Progressive psychomotor deterioration, Decreased nerve conduction velocity, Sh... ORPHA:309271
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni... OMIM:607398
Oculopharyngodistal Myopathy
Weight loss, Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia ORPHA:98897
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab... OMIM:616113
East Syndrome
Hyperaldosteronism, Salt craving, Polydipsia ORPHA:199343
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice OMIM:613470
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno... ORPHA:79404
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss, Carcinoid tumor, Anor... ORPHA:100080
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis, Chronic constipation OMIM:618060
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... ORPHA:97278
Parkinson Disease 6, Autosomal Recessive Early-Onset
Urinary urgency OMIM:605909
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia ORPHA:664
Pancreatitis, Hereditary
Fever, Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Di... OMIM:167800
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Failure to thrive, Hypothermia, Hepatomegaly, Dysphagia ORPHA:255210
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism ORPHA:54
Alagille Syndrome
Keratoconus, Failure to thrive, Abnormality of the ureter, Abnormal pupil morphology, Renal hypop... ORPHA:52
Achalasia-Addisonianism-Alacrima Syndrome
Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating aldosterone le... OMIM:231550
Primary Unilateral Adrenal Hyperplasia
Nausea, Polydipsia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:231580
Hirschsprung Disease
Failure to thrive in infancy, Neoplasm of the thyroid gland, Weight loss ORPHA:388
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom... ORPHA:93598
Hec Syndrome
Polyhydramnios, Abnormal pupil morphology, Developmental cataract ORPHA:2119
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive behavior, Leuko... OMIM:310600
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Hypothermia... ORPHA:488632
Joubert Syndrome 37
Hydronephrosis, Obesity, Micropenis OMIM:619185
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Anaplastic Thyroid Carcinoma
Goiter, Weight loss, Dysphagia, Nodular goiter, Anaplastic thyroid carcinoma ORPHA:142
Noonan Syndrome 4
Large for gestational age, Hydronephrosis, Blue irides, Polyhydramnios, Ureteral duplication OMIM:610733
Johanson-Blizzard Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Hydronephrosis, Hypoplasia of penis, Hyposp... ORPHA:2315
Leishmaniasis
Recurrent fever, Splenomegaly, Weight loss, Anorexia, Hepatomegaly ORPHA:507
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Large for gestational age, Nephroblastoma, Hydr... ORPHA:314588
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Autosomal Recessive Spastic Paraplegia Type 48
Urinary incontinence, Urinary bladder sphincter dysfunction ORPHA:306511
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Polyphagia, Weigh... ORPHA:95427
Autosomal Dominant Spastic Paraplegia Type 36
Urinary incontinence, Urinary urgency ORPHA:320365
Pseudomyxoma Peritonei
Hernia, Weight loss, Abnormal peritoneum morphology ORPHA:26790
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Abnormal circulating aldosterone, Failure to thrive in infancy, Glucocortocoid-in... ORPHA:171876
Wilson Disease
Hepatitis, Failure to thrive, Acute hepatitis, Hepatic steatosis, Splenomegaly, Increased body we... ORPHA:905
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Cachexia, Cirrhosis, Weight loss, Macrovesicular hepatic steatosis... ORPHA:298
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Nausea, Polydipsia ORPHA:369929
Microphthalmia, Lenz Type
Iris coloboma, Cataract, Microcornea, Hydroureter, Chorioretinal coloboma, Renal hypoplasia/aplas... ORPHA:568
Igg4-Related Aortitis
Hydronephrosis, Weight loss, Intestinal obstruction ORPHA:449400
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Septo-Optic Dysplasia Spectrum
Hypohidrosis, Polydipsia, Constipation ORPHA:3157
Trisomy 17P
Cataract, Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Ureth... ORPHA:261290
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Fatal Familial Insomnia
Fever, Weight loss, Dysphagia, Hyperhidrosis OMIM:600072
Takayasu Arteritis
Fever, Weight loss, Hyperhidrosis, Anorexia ORPHA:3287
Allergic Bronchopulmonary Aspergillosis
Low-grade fever, Weight loss ORPHA:1164
Marburg Hemorrhagic Fever
Fever, Hypoglycemia, Hypothermia, Orchitis, Aggressive behavior, Pancreatitis, Anorexia, Jaundice ORPHA:99826
Spastic Paraplegia 30, Autosomal Dominant
Urinary bladder sphincter dysfunction OMIM:610357
Suleiman-El-Hattab Syndrome
Hydronephrosis, Failure to thrive OMIM:618950
Silver-Russell Syndrome
Premature adrenarche, Insulin resistance, Precocious puberty, Recurrent hypoglycemia, Failure to ... ORPHA:813
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Hypothermia, Dysphagia, Anhidrosis, Decreased sweating due to autonomic ... ORPHA:99027
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Failure to thrive, Weight loss, Delayed puberty, Enamel hypoplasia, Ste... OMIM:212750
Grfoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... ORPHA:97261
Bardet-Biedl Syndrome 12
Hydronephrosis, Obesity, Hydroureter, Cystic renal dysplasia OMIM:615989
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Infantile Nephropathic Cystinosis
Vomiting, Polydipsia, Abnormal cornea morphology, Corneal crystals, Abnormality of thyroid physio... ORPHA:411629
Christianson Syndrome
Arthrogryposis multiplex congenita, Inappropriate laughter, Cachexia, Dysphagia, Motor stereotypy ORPHA:85278
Branchio-Oculo-Facial Syndrome
Cataract, Multicystic kidney dysplasia, Microcornea, Renal agenesis, Hydronephrosis, Iris coloboma ORPHA:1297
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity OMIM:620511
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Chorioretinal coloboma, Horseshoe kidney, Crossed fused renal ectopia, Ves... ORPHA:959
Unilateral Ocular Duplication
Polyhydramnios, Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Vomiting OMIM:300048
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney, Polyhydramnios OMIM:314390
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney, Dehydration ORPHA:634
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Large for gestational age, Hepatomegaly, Diabetes mellitus OMIM:616026
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... OMIM:603860
Teratoma, Pineal
Polydipsia OMIM:273120
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fever, Hepatosplenomegaly, Weight loss, Panniculitis ORPHA:86884
Juvenile Huntington Disease
Weight loss, Hyperactivity ORPHA:248111
Alexander Disease Type I
Cachexia, Dysphagia, Failure to thrive ORPHA:363717
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Decreased response to growt... OMIM:180500
Rhabdoid Tumor
Neoplasm of the liver, Weight loss, Fever ORPHA:69077
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Abnormal u... ORPHA:85450
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Decreased nerve conduction velocity, Short attention span,... ORPHA:309263
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Fasting hypoglycemia, Hepatomega... OMIM:261680
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Hyperhidrosis ORPHA:99868
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Hypospadias, Decreased response to growth hormone stimulation test OMIM:220210
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis, Failure to thrive ORPHA:488613
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss, Carcinoid tumor, Anor... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss, Carcinoid tumor, Anor... ORPHA:100082
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... ORPHA:887
Alexander Disease
Microcoria OMIM:203450
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Polydipsia ORPHA:320
Nodular Non-Suppurative Panniculitis
Fever, Splenomegaly, Weight loss, Hepatomegaly, Panniculitis ORPHA:33577
Immunodeficiency 31C
Fever, Splenomegaly, Hypothyroidism, Delayed puberty, Weight loss, Hepatomegaly, Diabetes mellitus OMIM:614162
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Oligohydramnios, Hydronephrosis, Duplicated collecting system, Small for gesta... OMIM:617093
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Gastroesophageal reflux, Large for gestational age, Vesicoureteral reflux, Hydronephrosis, Bladde... OMIM:614080
Trisomy 1Q
Multicystic kidney dysplasia, Increased nuchal translucency, Hydronephrosis, Polyhydramnios, Cong... ORPHA:261344
Craniotubular Dysplasia, Ikegawa Type