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Gene: Avpr2 MGI:88123

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
arginine vasopressin receptor 2
Synonyms:
ND1,  DI1,  V2R,  nephrogenic diabetes insipidus

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Avpr2 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 Avpr2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... ORPHA:223
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypernatremia, Megacystis, Polyuria OMIM:304800
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539

The table below shows human diseases predicted to be associated to Avpr2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... OMIM:619468
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria OMIM:222100
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia ORPHA:95626
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Hypercalcemia, Infantile, 2
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis OMIM:616963
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc... OMIM:615751
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, Hypernatremia, Failu... ORPHA:35710
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polydipsia, Polyuria OMIM:613677
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Hypercalcemia, Infantile, 1
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis OMIM:143880
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag... OMIM:613845
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia ORPHA:67046
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... ORPHA:223
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... ORPHA:6
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Hypernatremia, Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypernatremia, Megacystis, Polyuria OMIM:304800
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... OMIM:606528
Central Diabetes Insipidus
Polydipsia, Nocturia, Anorexia ORPHA:178029
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight ORPHA:314811
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperin... OMIM:262190
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re... ORPHA:324575
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormal locali... ORPHA:446
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... OMIM:232700
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Webb-Dattani Syndrome
Neurogenic bladder, Obesity, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis OMIM:615926
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Hyperchlorhidrosis, Isolated
Hyponatremia, Failure to thrive, Hyperkalemia OMIM:143860
Helix Syndrome
Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia OMIM:617671
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hypoglycemia, Renal salt wasting, Hyperkalemia, Failure to thrive OMIM:614736
Renal Hypoplasia, Bilateral
Hyponatremia, Small for gestational age, Proteinuria, Microscopic hematuria, Chronic kidney disea... ORPHA:97362
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Aciduria, Hyperalaninemia, Premature skin wrinkling, Failure to thrive OMIM:617950
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte... ORPHA:199343
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy, Polydips... ORPHA:213
2P21 Microdeletion Syndrome
Hypoglycemia, Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive ORPHA:163693
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Renal sodium wasting,... ORPHA:320
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age OMIM:601820
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Polyphagia OMIM:615986
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Tempi Syndrome
Abnormality of the kidney, Increased hematocrit, Polycythemia, Facial erythema ORPHA:284227
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive OMIM:203400
Blue Diaper Syndrome
Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Nephrocalcinosis, Blue ... ORPHA:94086
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, L... ORPHA:3008
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Polydi... OMIM:612780
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin, Renal dysplasia OMIM:218650
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... OMIM:613496
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... ORPHA:84081
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... ORPHA:94093
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis OMIM:615994
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem... ORPHA:90041
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Renal steatosis, Hypoglycemia OMIM:261650
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia, Anemia OMIM:610090
Phenylketonuria
Maternal hyperphenylalaninemia, Increased level of hippuric acid in urine, Elevated urinary pheny... OMIM:261600
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Congenital Lethal Erythroderma
Failure to thrive, Dry skin, Hypoalbuminemia ORPHA:1954
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia, Thrombocytopenia ORPHA:67048
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Abnormal circulating selenium concentration ORPHA:171706
Hereditary Coproporphyria
Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ... ORPHA:79273
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Renal salt wasting, Increased urinary potassium, Impaire... ORPHA:89938
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hypoglycemia OMIM:615158
Erythrocytosis, Familial, 2
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin OMIM:263400
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Polyuria, Hypercalciuria, Aminoaciduria, Polydipsia OMIM:239200
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Acquired Ichthyosis
Renal insufficiency, Erythema, Dry skin ORPHA:454
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperammonemia, 3-Met... OMIM:246450
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Failure to thrive, Hyperkalemia, Renal salt wasting OMIM:264350
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Diabetes mellitus, Hypouricemia, Proteinuria, Hypoglycemia, Large for gestatio... OMIM:616026
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia ORPHA:664
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Propionic Acidemia
Organic aciduria, Hypoglycemia, Hyperammonemia ORPHA:35
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic... ORPHA:289504
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology OMIM:609886
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Ketotic hypoglycemia, De... ORPHA:79159
Mody
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Transi... ORPHA:552
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Ren... OMIM:601678
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Nephrotic syndrome ORPHA:69061
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti... ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Ethylmalonic aciduria, In... ORPHA:26792
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure ... ORPHA:2089
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Small for gestational age, Hypoglycemia, Hyperammonemia, Elevated circu... OMIM:615160
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Hydronep... OMIM:598500
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Dry skin, Increased body weight, Anemia OMIM:614450
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Orthostatic Hypotension 2
Hypoglycemia, Anemia, Decreased glomerular filtration rate OMIM:618182
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting, Failure to t... ORPHA:556037
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia OMIM:620357
Ichthyosis Vulgaris
Dry skin OMIM:146700
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... OMIM:619386
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin OMIM:617920
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... ORPHA:276575
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Increased urine succinate level, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, ... OMIM:619048
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... OMIM:612925
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pallor, Fasting hypoglycemia, Hyp... ORPHA:276608
Erythrokeratodermia Variabilis
Diabetes mellitus, Erythema, Dry skin, Weight loss ORPHA:317
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Gitelman Syndrome
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Polydipsia, Nocturia, R... OMIM:263800
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Organic aciduria, Hypoglycemia OMIM:614741
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting, Failure to t... ORPHA:556030
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... ORPHA:567548
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Palmoplantar scaling skin, Erythema, Scaling skin, Dry skin ORPHA:530838
Galactokinase Deficiency
Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of... ORPHA:79237
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypoglycemia, Thrombocytopenia, Hy... OMIM:617053
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia OMIM:615026
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypercalciuria ORPHA:251274
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Ulerythema Ophryogenesis
Dry skin, Facial erythema ORPHA:3406
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... ORPHA:79096
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612924
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive OMIM:214700
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Failure to thrive, Renal insufficiency, Hypoglycemia, Hypercalce... ORPHA:95409
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Congenital Isolated Acth Deficiency
Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures ORPHA:199296
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni... ORPHA:3337
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium ORPHA:231580
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Hypernatremia, Hypoalbuminemia OMIM:615508
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsul... ORPHA:263455
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... OMIM:620211
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:617872
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612926
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... OMIM:162000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney, Hypoglycemia, Hyperlipidemia, Failure to thrive ORPHA:369
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Palmoplantar Keratoderma And Congenital Alopecia 2
Dry skin, Facial erythema OMIM:212360
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Failure to thrive, Hypoglycemia, Hypercalcemi... ORPHA:199299
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell... OMIM:617575
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Polyuria, Renal sa... OMIM:241200
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney d... ORPHA:1667
Familial Hypoaldosteronism
Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul... ORPHA:427
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin concentration, In... ORPHA:100924
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... ORPHA:3467
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... OMIM:251000
Ddost-Cdg
Failure to thrive, Dry skin, Nephrotic range proteinuria ORPHA:300536
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Hypoglycemia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level OMIM:608688
Classic Mycosis Fungoides
Splenomegaly, Erythema, Dry skin, Skin ulcer, Abnormal lymphocyte morphology ORPHA:2584
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Ketotic hypoglycemia, Renal salt wasting, Hyper... ORPHA:361
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria OMIM:560000
Familial Cold Urticaria
Polydipsia ORPHA:47045
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin, Abnormality of the ureter, Obesity ORPHA:1035
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypercalc... ORPHA:2088
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Porphyria Variegata
Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di... ORPHA:79473
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Dry skin, Hyperinsulinemia, Obesity ORPHA:3085
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Hyperglycinemia, Neonatal death, Failure to... OMIM:245400
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Alg8-Cdg
Hyponatremia, Small for gestational age, Cutis laxa, Anemia, Premature skin wrinkling, Failure to... ORPHA:79325
Snakebite Envenomation
Hyponatremia, Erythema, Ecchymosis, Acute kidney injury, Thrombocytopenia ORPHA:449285
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Dry skin, Anemia OMIM:618116
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin, Thrombocytopenia OMIM:612952
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Dermoodontodysplasia
Dry skin OMIM:125640
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine level, Fa... OMIM:210200
Omenn Syndrome
Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Dry skin, Nephrotic syndrome, Abnorm... ORPHA:39041
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Proximal renal tubular acidosis OMIM:266150
Mehmo Syndrome
Micropenis, Small for gestational age, Obesity, Hypoglycemia OMIM:300148
Cholera
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Hyp... ORPHA:173
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri... OMIM:227810
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Xanthinuria, Type I
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis OMIM:278300
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Cystinosis, Nephropathic
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal dysphagia, Stage 5... OMIM:219800
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypospadias, Increased circulating farnesol concentration, Decrease... OMIM:618156
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, Failure to thrive OMIM:614739
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... OMIM:611590
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Propionic Acidemia
Pancytopenia, Increased level of hippuric acid in urine, Hypoglycemia, Thrombocytopenia, Hypergly... OMIM:606054
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Failure to thrive, Elevated circulating creatine kinase concentration, Unilateral r... OMIM:614576
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Hypoglycemia, Neonatal hypoglycemia, Decreased body weight ORPHA:231140
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Hypoglycemia, Elevated circulating creatine kinase concentration, Hy... OMIM:618120
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Failure to thrive, Renal insufficiency, Recurrent urinary tract infections, Pro... OMIM:619487
Addison Disease
Hyponatremia, Normocytic anemia, Failure to thrive, Hypoglycemia, Hypercalcemia, Renal salt wasti... ORPHA:85138
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level OMIM:177735
Endocardial Fibroelastosis
Hypoplasia of penis, Hypoglycemia ORPHA:2022
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Nephrolithiasis ORPHA:369929
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Shigellosis
Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Hemolytic-uremic syndrome, Leukocytosis... ORPHA:810
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,... ORPHA:391673
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Dry skin, Mildly elevated creatine kinase ORPHA:486815
Peroxisome Biogenesis Disorder 14B
Dry skin, Urinary incontinence OMIM:614920
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Dry skin, Anemia OMIM:620184
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Dry skin, Renal hypoplasia ORPHA:1745
Huriez Syndrome
Dry skin, Lack of skin elasticity ORPHA:384
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Xanthinuria, Type Ii
Nephrolithiasis, Renal insufficiency, Increased urinary hypoxanthine level, Xanthinuria OMIM:603592
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... ORPHA:247353
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb... OMIM:619355
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... OMIM:231100
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Large for gestational age, Decreased circulating free fatty acid level, Recurrent hypo... ORPHA:79644
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Polydipsia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne... ORPHA:99880
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive, Cystine crystalluria, Neonatal hypo... OMIM:606407
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Failure to thrive, Dry skin, Cutis laxa OMIM:612379
Glycogen Storage Disease Ixd
Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Hypoglycemia, Low plasma citrulline, Renal steatosis, Fasting hypoglycemia, Impaired g... OMIM:261680
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Fail... OMIM:619046
Parathyroid Carcinoma
Renal insufficiency, Polydipsia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne... ORPHA:143
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Bachmann-Bupp Syndrome
Dry skin, Hypoglycemia, Hyperbilirubinemia, Large for gestational age OMIM:619075
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Sjögren-Larsson Syndrome
Erythema, Dry skin ORPHA:816
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Dry skin, Increased body weight, Horseshoe kidney OMIM:300860
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia ORPHA:231147
Riddle Syndrome
Dry skin OMIM:611943
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Perianal erythema, Splenomegaly, Decreased serum zinc, Perioral erythema, Dry ... OMIM:201100
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Failure to thrive, Elevated circulating C-reactive protein concentra... OMIM:617388
Adrenal Hypoplasia, Congenital
Hyponatremia, Failure to thrive, Renal salt wasting OMIM:300200
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... ORPHA:2298
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci... OMIM:617913
Hydroxykynureninuria
Renal tubular acidosis, Abnormal circulating tryptophan concentration, Dry skin ORPHA:79155
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Failure to thrive in infancy, Hydronephrosis ORPHA:85285
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Neonatal hypoglycemia, Renal salt wasting, Hyperkalemia, Increased cir... ORPHA:90791
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hypoglycemia, Elevated circulating... ORPHA:42
Monocarboxylate Transporter 1 Deficiency
Ketonuria, Ketotic hypoglycemia OMIM:616095
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni... ORPHA:171876
Grubben-De Cock-Borghgraef Syndrome
Dry skin ORPHA:2101
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Uric acid nephrolithiasi... ORPHA:411536
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Leukocytosis, Abnormal blood ion concentration, Oliguria, Hypo... ORPHA:31824
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Dry skin, Scaling skin, Renal cortical cysts OMIM:609180
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Hypoglycemia, Conjugated hyperbilirubine... OMIM:617093
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... OMIM:231680
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Hypoglycemia, Recurrent myoglobinuria, Elevated ci... OMIM:620300
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i... ORPHA:79233
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, 2-ethylhydracylic aciduria OMIM:610006
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Failure to thrive OMIM:614702
Sheehan Syndrome
Hyponatremia, Hypoglycemia, Obesity, Normochromic anemia, Hyposthenuria, Pallor, Dry skin ORPHA:91355
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Obesity, Renal hypoplasia OMIM:615996
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Hypoglycemia, Renal salt wasting OMIM:201910
Autosomal Dominant Hypocalcemia
Hypercalciuria, Nephrocalcinosis, Hypermagnesiuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesem... ORPHA:428
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Dry skin, Increased circulating free fatty acid level OMIM:610768
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Dry skin, Obesity, Organic aciduria OMIM:620191
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Glycogen Storage Disease Ixb
Splenomegaly, Hypoglycemia, Hyperuricemia OMIM:261750
Wolfram Syndrome
Recurrent urinary tract infections, Dysuria, Abnormality of the urinary system, Nephropathy, Poly... ORPHA:3463
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... ORPHA:90038
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Organic aciduria,... OMIM:210210
Recessive X-Linked Ichthyosis
Dry skin ORPHA:461
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:232400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... ORPHA:71212
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia ORPHA:2158
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Petechiae, Hypospadias, Dry skin, Failure to thrive, Anemia OMIM:620331
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Dry skin ORPHA:95715
Netherton Syndrome
Aminoaciduria, Dry skin, Hydronephrosis, Ectopic kidney ORPHA:634
6P22 Microdeletion Syndrome
Hydronephrosis, Redundant skin ORPHA:251046
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria, Hypoglycemia, Hyperammonemia, Hyperglycemia, Failure to thrive OMIM:615453
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Trichothiodystrophy 6, Nonphotosensitive
Dry skin, Small for gestational age OMIM:616943
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Long penis, Fasting hyperinsulinemia, Insulin-res... ORPHA:769
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Hypoglycemia OMIM:246900
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Beta-Ketothiolase Deficiency
Ketonuria, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Pallor, Hyperuricemia, Thromb... ORPHA:134
Laron Syndrome
Hypercholesterolemia, Hypoplasia of penis, Hypoglycemia, Truncal obesity ORPHA:633
Spinocerebellar Ataxia Type 34
Dry skin ORPHA:1955
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Solitary Fibrous Tumor
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Urinary retention, Hy... ORPHA:2126
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia OMIM:618838
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Polydipsia ORPHA:3157
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Dry skin OMIM:600906
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Toxic Epidermal Necrolysis
Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Polydipsia ORPHA:537
Maple Syrup Urine Disease
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... OMIM:248600
Pediatric-Onset Graves Disease
Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Hypoglycemia, Pallor, Hyperuricemia, Fasting hypoglycemia, Hyperalani... ORPHA:348
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia OMIM:618839
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria, Cachexia, Dry skin, Hypoalbuminemia, Failure to thrive OMIM:610965
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Small for gestational age, Hypoglycemia, Hyperammonemia, Neutropenia OMIM:618253
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology OMIM:614227
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Renal salt w... ORPHA:275761
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Lamellar Ichthyosis
Renal insufficiency, Dry skin, Lack of skin elasticity ORPHA:313
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Failure to thrive OMIM:620157
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin OMIM:275100
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Amin... OMIM:619055
Panhypophysitis
Polydipsia, Hyposthenuria ORPHA:95513
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Neonatal hypoglycemia, Renal salt wasting, Long penis, Hyperkalemia, Weight loss, H... ORPHA:90794
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Dry skin OMIM:129490
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Tyrosinemia, Type I
Hypertyrosinemia, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Erdheim-Chester Disease
Hydronephrosis, Renal insufficiency, Polydipsia, Dysuria ORPHA:35687
Microcephalic Primordial Dwarfism, Montreal Type
Dry skin ORPHA:2617
Legionnaires Disease
Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Hematuria, Lymphopenia ORPHA:549
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Hyperammonemia OMIM:620137
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Renal tubular dy... ORPHA:69076
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Hypoglycemia OMIM:300438
Glutaric Acidemia I
Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circulating glutaric acid concentration, Fai... OMIM:231670
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Recurr... OMIM:212140
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Megaloblastic anemia, H... OMIM:222300
Malonyl-Coa Decarboxylase Deficiency
Elevated urine suberic acid level, Hypoglycemia, Methylmalonic aciduria OMIM:248360
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Adenohypophysitis
Hyponatremia, Normochromic anemia, Hyposthenuria, Pallor ORPHA:95512
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin OMIM:617066
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Dry skin, Scaling skin, Cutis laxa ORPHA:2269
Fanconi Anemia, Complementation Group O
Neonatal death, Stage 5 chronic kidney disease, Renal cyst, Hydronephrosis OMIM:613390
Hartsfield Syndrome
Micropenis, Hypernatremia, Hypospadias OMIM:615465
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Xeroderma Pigmentosum Variant
Dry skin ORPHA:90342
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Hypoglycemia, Transient hyperlipidemia ORPHA:156
Thyroid Dyshormonogenesis 1
Dry skin OMIM:274400
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... OMIM:255120
Silver-Russell Syndrome 1
Urethral valve, Small for gestational age, Hypospadias, Abnormality of the ureter, Congenital pos... OMIM:180860
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Scaling skin OMIM:614457
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin OMIM:617364
Dermoodontodysplasia
Dry skin ORPHA:1660
Gitelman Syndrome
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial ... ORPHA:358
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Neonatal hypoglycemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium c... ORPHA:168558
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Nonketotic hypoglycemia, Hypoglycemia... OMIM:608836
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Hypoglycemia OMIM:618958
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
Acute Intermittent Porphyria
Hyponatremia, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Incr... ORPHA:79276
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Anuria, Diabetes mellitus, Leukocytosis, Hyperkalemia, Oliguria, ... ORPHA:544482
Whipple Disease
Hyponatremia, Cachexia, Splenomegaly, Insulin resistance, Anemia ORPHA:3452
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Neonatal hypoglycemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium c... ORPHA:289548
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin... ORPHA:230
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic kidney disease... ORPHA:731
Peeling Skin Syndrome 6
Dry skin, Scaling skin OMIM:618084
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia ORPHA:90790
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... ORPHA:49041
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
19Q13.11 Microdeletion Syndrome
Failure to thrive, Dry skin, Hypospadias, Cachexia ORPHA:217346
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive, ... ORPHA:73272
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Alg12-Cdg
Hyponatremia, Hypospadias, Redundant skin, Recurrent hypoglycemia, Hypoalbuminemia, B lymphocytop... ORPHA:79324
Pituitary Apoplexy
Hyponatremia, Normochromic anemia, Hypoglycemia, Pallor ORPHA:95613
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... OMIM:617049
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Johanson-Blizzard Syndrome
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Failure to thrive, Hypoproteinemia, Hydronep... ORPHA:2315
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Failure to thrive, Small for gestational age, Patent urachus OMIM:618252
Glycogen Storage Disease Ia
Proteinuria, Hypoglycemia, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... OMIM:232200
Familial Melanoma
Dry skin ORPHA:618
Congenital Myopathy 19
Renal atrophy, Hydronephrosis OMIM:618578
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, S... ORPHA:79240
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Insulin-resistant diabetes mellitus, Dry skin OMIM:268020
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Diabetes mellitus, Hepatosplenomegaly, Decreased serum zinc, Hydron... ORPHA:541423
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration,... ORPHA:99901
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228305
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Aplastic anemia, Urethral stenosis, Leukopenia, Dry skin, Throm... OMIM:613990
Trichodysplasia-Xeroderma Syndrome
Dry skin ORPHA:3361
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ... OMIM:229600
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamm... OMIM:212138
Schopf-Schulz-Passarge Syndrome
Dry skin OMIM:224750
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
D-Glyceric Aciduria
Hypoglycemia, Nonketotic hyperglycinemia, Aminoaciduria, Micropenis, Failure to thrive OMIM:220120
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hypoglycemia ORPHA:231137
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Dry skin, Hydronephrosis, Renal duplica... ORPHA:96169
Refsum Disease
Splenomegaly, Renal insufficiency, Dry skin ORPHA:773
Leopard Syndrome 2
Dry skin OMIM:611554
Glycogen Storage Disease Ixc
Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections OMIM:619218
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... OMIM:618183
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Dry skin, Large for gestational age ORPHA:226313
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Williams-Beuren Region Duplication Syndrome
Failure to thrive, Small for gestational age, Hydronephrosis, Unilateral renal agenesis OMIM:609757
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:26791
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Redundant neck skin, Small for gestational age, Elevated circulatin... OMIM:301056
Temple Syndrome
Type II diabetes mellitus, Recurrent hypoglycemia, Small for gestational age, Obesity ORPHA:254516
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkale... ORPHA:293978
Rhizomelic Chondrodysplasia Punctata
Dry skin ORPHA:177
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized ami... OMIM:251880
Noonan Syndrome 5
Dry skin, Large for gestational age OMIM:611553
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... ORPHA:97279
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Hypoglycemia, Abnormality of the lower urin... ORPHA:391428
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Ketonuria, Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, 3-Meth... ORPHA:20
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria, Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Igg4-Related Aortitis
Hypereosinophilia, Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight ... ORPHA:449400
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Medium chain dicarboxylic aciduria, Hyperglycinuria, Hypoglycemia OMIM:201450
Radio-Tartaglia Syndrome
Dry skin, Obesity, Striae distensae OMIM:619312
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Glomerulopathy,... ORPHA:534
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Dry skin ORPHA:3162
Syndromic Diarrhea
Small for gestational age, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Dry sk... ORPHA:84064
Prolidase Deficiency
Recurrent cystitis, Splenomegaly, Erythema, Skin ulcer, Dry skin ORPHA:742
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Abnormal circulating thyroglobulin level, Dry skin ORPHA:99832
Fucosidosis
Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Dry skin, Oligosacchariduria, Failure to t... OMIM:230000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-... OMIM:617156
Glycogen Storage Disease Ib
Proteinuria, Hypoglycemia, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru... OMIM:232220
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis, Decreased body weight OMIM:618265
Noonan Syndrome 13
Duplicated collecting system, Dry skin OMIM:619087
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Dry skin, Eosinophilia OMIM:618282
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... ORPHA:159
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Juvenile Dermatomyositis
Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p... ORPHA:93672
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Recon Progeroid Syndrome
Thrombocytopenia, Dry skin, Scaling skin, Anemia OMIM:620370
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Small for gestational age, Dry skin, Vesicoureteral reflux, F... OMIM:610443
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Vesicoureteral reflux, Dry skin OMIM:618797
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,... OMIM:201810
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Dry skin, Facial erythema OMIM:308800
Acrodermatitis Enteropathica
Erythema, Dry skin, Skin ulcer, Weight loss, Failure to thrive ORPHA:37
Chromosome 19Q13.11 Deletion Syndrome, Distal
Failure to thrive, Dry skin, Hypospadias OMIM:613026
Leopard Syndrome 3
Dry skin OMIM:613707
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Hypoglycemia, Elevated circulating creatine kinase concentration, Splenomegal... OMIM:608779
Alg11-Cdg
Failure to thrive, Dry skin ORPHA:280071
Rabin-Pappas Syndrome
Hyponatremia, Failure to thrive in infancy, Obesity OMIM:620155
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease, Cutis laxa, Abnormal spleen morphology, Dry skin ORPHA:85448
Adiposis Dolorosa
Dry skin, Obesity ORPHA:36397
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Hypospadias, Hypoglycemia, Hypocalcemia, Micropenis, Failure to thrive OMIM:607143
Infantile Liver Failure Syndrome 2
Hypoglycemia, Hyperammonemia OMIM:616483
Leigh Syndrome
Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular dy... ORPHA:506
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Hypocalcemia,... ORPHA:2237
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Dry skin OMIM:618535
Pili Torti-Onychodysplasia Syndrome
Dry skin ORPHA:2890
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Dicarboxylic aciduria, Elevated circulating creatine kinase concentratio... OMIM:201475
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Hyperalaninemia, Failure to thrive OMIM:618329
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Neurogenic bladder, Dry skin OMIM:618527
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dicarboxylic aciduria, Hypoglycemia, Thrombocytopenia OMIM:611126
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:167
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoketotic hypoglycemia OMIM:600649
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Hypochromic microcytic anemia, Perineal hypospadias, Normochromic microcytic... ORPHA:66634
Jung Syndrome
Dry skin ORPHA:2321
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hypogl... ORPHA:79282
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Hydronephrosis OMIM:613735
Orthostatic Hypotension 1
Hypomagnesemia, Neonatal hypoglycemia, Nocturia, Increased blood urea nitrogen OMIM:223360
Complex Regional Pain Syndrome
Erythema, Dry skin ORPHA:83452
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia, Small for gestational age, Renal hypoplasia OMIM:616817
Den Hoed-De Boer-Voisin Syndrome
Recurrent urinary tract infections, Overweight, Obesity, Decreased body weight, Dry skin OMIM:619229
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Acute Monoblastic/Monocytic Leukemia
Oliguria, Anorexia ORPHA:514
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Small for gestational age, Hypoglycemia, Decreased body weight ORPHA:391408
Liver Disease, Severe Congenital
Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration, Hypo... OMIM:619991
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Scaling skin OMIM:612281
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Chronic neutropenia, Hypoglycemia, Hyperlipidemia, Stage 5 chr... ORPHA:79259
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Dry skin, Failure to thrive in infancy, Anemia ORPHA:261323
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Infection associa... ORPHA:445038
Joubert Syndrome 37
Hydronephrosis, Micropenis, Obesity OMIM:619185
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Redundant skin, Excessive wrinkled skin, Dry skin, Hydronephrosis ORPHA:1340
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney ORPHA:1764
Silver-Russell Syndrome Due To A Point Mutation
Small for gestational age, Microphallus, Hypospadias, Hypoglycemia ORPHA:397590
Hypohidrotic Ectodermal Dysplasia
Nephrotic syndrome, Failure to thrive, Dry skin ORPHA:238468
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Dry skin, Leukopenia, B lymphocytopenia, Neutropenia, Lympho... ORPHA:508542
Donohue Syndrome
Long penis, Hyperinsulinemia, Fasting hypoglycemia, Severe failure to thrive, Hyperglycemia, Post... OMIM:246200
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin ORPHA:1028
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Failure to thrive, Hypoglycemia ORPHA:95496
Tangier Disease
Hypertriglyceridemia, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia, Dry skin, Anemia ORPHA:31150
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Failure to thrive in infancy, Proteinuria, ... ORPHA:2162
Systemic Capillary Leak Syndrome
Renal insufficiency, Oliguria, Abnormal renal tubule morphology ORPHA:188
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Suleiman-El-Hattab Syndrome
Failure to thrive, Hydronephrosis OMIM:618950
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Oliguria, Dysphagia ORPHA:220393
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Hyperlipidemia, Hematuria, Fo... OMIM:232240
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic syndrome, Giant ... OMIM:611209
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... OMIM:211900
Timothy Syndrome
Hypoglycemia, Hypocalcemia OMIM:601005
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c OMIM:616113
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Isolated Thyroid-Stimulating Hormone Deficiency
Dry skin, Abnormal circulating thyroglobulin level, Hypercholesterolemia, Failure to thrive, Neon... ORPHA:90674
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Classic Galactosemia
Abnormal erythrocyte enzyme level, Hypoglycemia ORPHA:79239
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... ORPHA:1834
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Enuresis, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia ORPHA:293987
Smith-Kingsmore Syndrome
Hypoglycemia, Thrombocytopenia, Large for gestational age OMIM:616638
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Cranioectodermal Dysplasia 3
Dry skin, Stage 5 chronic kidney disease, Nephronophthisis, Cutis laxa OMIM:614099
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Failure to thrive, Hypoglycemia, Neutropenia OMIM:618005
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity, Dry skin, Anemia ORPHA:2637
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Hypoglycemia OMIM:229700
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Redundant neck skin, Splenomegaly, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis OMIM:235255
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Redundant neck skin, Splenomegaly, Abnormal renal morphology, Hepatosplenomegaly, Hypocalcemia, M... ORPHA:1655
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Small for gestational age, Unilateral renal agenesis, Scaling skin, Dry skin OMIM:618419
Lipodystrophy, Familial Partial, Type 7
Failure to thrive, Hypertriglyceridemia, Small for gestational age, Polyuria, Facial wrinkling, I... OMIM:606721
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Small for gestational age, Hydronephrosis, Hypospadias OMIM:616897
Dubowitz Syndrome
Hypospadias, Abnormality of neutrophils, Acute lymphoblastic leukemia, Anemia, Dry skin, Hydronep... ORPHA:235
Cog8-Cdg
Failure to thrive, Hypoglycemia ORPHA:95428
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Prune Belly Syndrome
Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Ameloonychohypohidrotic Syndrome
Dry skin OMIM:104570
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating... ORPHA:480864
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating... OMIM:616878
Infant Botulism
Hyponatremia ORPHA:178478
Isolated Complex I Deficiency
Increased serum pyruvate, Diabetes mellitus, Hypoglycemia, Proximal tubulopathy, Failure to thrive ORPHA:2609
Leprechaunism
Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Nephrocalcinosis, Hypokalemia, ... ORPHA:508
Distal Triplication 15Q
Abnormality of the kidney, Large for gestational age, Dilatation of the renal pelvis, Horseshoe k... ORPHA:314588
Hereditary Fructose Intolerance
Renal insufficiency, Reactive hypoglycemia, Chronic kidney disease, Hypermagnesemia, Hyperuricemi... ORPHA:469
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Intellectual Developmental Disorder, Autosomal Dominant 54
Urinary retention, Dry skin, Small for gestational age, Neutropenia OMIM:617799
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Scaling skin, Neonatal hypoglycemia ORPHA:35173
Ethylene Glycol Poisoning
Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Add... ORPHA:31826
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis... ORPHA:2785
Lassa Fever
Oliguria, Dysphagia ORPHA:99824
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Thrombocytopenia OMIM:617710
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Dry skin ORPHA:1812
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... ORPHA:158684
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Dry skin, Scaling skin OMIM:618373
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... ORPHA:340
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia OMIM:613986
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Failure to thrive OMIM:202200
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Recurrent urinary tract infections, Intermittent thrombocytopenia, Erythroid h... OMIM:612541
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Failure to thrive, Hydronephrosis ORPHA:488613
Diabetic Embryopathy
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:1926
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Trichothiodystrophy 1, Photosensitive
Dry skin, Small for gestational age OMIM:601675
Noonan Syndrome 14
Lymphopenia, Dry skin OMIM:619745
Peroxisome Biogenesis Disorder 1A (Zellweger)
Redundant neck skin, Hypospadias, Aminoaciduria, Albuminuria, Elevated circulating long chain fat... OMIM:214100
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis, Thrombocytopenia, Large for gestational age OMIM:610733
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Slender build, Hydronephrosis ORPHA:364028
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... OMIM:154230
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output ORPHA:542323
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Neutropenia, Vesicoureteral reflux, Micropenis, Dry skin, Neonatal hyperbilirubinemia ORPHA:163956
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Anuria, Acute kidney injury OMIM:235400
Eec Syndrome
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Hypoplasia of the thymus, Vesicoureteral... ORPHA:1896
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Obesity, Cystic renal dysplasia OMIM:615989
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Renal insufficiency, Abnormality of the kidney, Glomerulonephriti... ORPHA:289390
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dry skin OMIM:619244
Silver-Russell Syndrome
Hypospadias, Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recurrent hypog... ORPHA:813
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Hypoglycemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Recu... OMIM:124000
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Dry skin, Scaling skin OMIM:616295
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Cockayne Syndrome B
Renal insufficiency, Small for gestational age, Proteinuria, Splenomegaly, Dry skin, Severe failu... OMIM:133540
Glycerol Kinase Deficiency
Increased urinary glycerol, Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, H... OMIM:307030
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Lymphopenia, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoureteral refl... OMIM:618460
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Neonatal hypo... OMIM:619418
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis OMIM:220210
Shashi-Pena Syndrome
Hypoglycemia, Unilateral renal agenesis OMIM:617190
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Horseshoe kidney OMIM:617140
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... ORPHA:900
Microscopic Polyangiitis
Hematuria, Glomerulopathy, Renal insufficiency, Oliguria ORPHA:727
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Splenomegaly, Dry skin OMIM:607626
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis ORPHA:1727
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Tarp Syndrome
Neonatal death, Failure to thrive, Hydronephrosis, Horseshoe kidney OMIM:311900
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Failure to thrive, Anemia OMIM:609069
Trichothiodystrophy
Dry skin, Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia ORPHA:33364
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis ORPHA:2083
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Large for gestational age, Acute lymphoblastic leukemia, Ureteropel... OMIM:280000
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hypospadias, Hypoglycemia, Methylmalonic aciduria, 3-Methylglutaconic aci... ORPHA:17
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Dry skin, Neutropenia OMIM:617827
Zellweger Syndrome
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Hydronephrosis ORPHA:912
Kanzaki Disease
Increased urinary O-linked sialopeptides, Aminoaciduria, Dry skin, Petechiae OMIM:609242
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hypoglycemia, Redundant skin, Elevated circulating alpha-fetoprotein concen... ORPHA:116
Rapp-Hodgkin Syndrome
Dry skin, Hypospadias OMIM:129400
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dry skin, Cachexia ORPHA:220295
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Hydronephrosis OMIM:619179
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:614921
Japanese Encephalitis
Hyponatremia, Neutrophilia ORPHA:79139
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Tenorio Syndrome
Enuresis, Hypoglycemia, Hypoinsulinemia OMIM:616260
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia, Failure to thrive OMIM:618426
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Chondrodysplasia Punctata 2, X-Linked Dominant
Failure to thrive, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydronephrosis OMIM:302960
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Obesity, Renal cyst, Vesicoureteral reflux... ORPHA:261494
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Neonatal hypoglycemia OMIM:617600
9P13 Microdeletion Syndrome
Dry skin ORPHA:324313
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Dry skin, Hydronephrosis ORPHA:2750
Hajdu-Cheney Syndrome
Hypospadias, Splenomegaly, Dry skin, Skin ulcer, Multiple renal cysts, Failure to thrive ORPHA:955
Microphthalmia, Syndromic 9
Renal malrotation, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Neonatal death, Hyp... OMIM:601186
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Neonatal hypoglycemia, Large for gestational age ORPHA:457485
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia ORPHA:453533
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Recurrent urinary tract infections, Small for gestational age, Hypoglycemia, Hypoal... OMIM:613658
Xeroderma Pigmentosum
Failure to thrive, Erythema, Dry skin, Aminoaciduria ORPHA:910
Naegeli-Franceschetti-Jadassohn Syndrome
Dry skin ORPHA:69087
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Arthrogryposis And Ectodermal Dysplasia
Diabetes mellitus, Dry skin OMIM:601701
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Dry skin OMIM:614940
Carpenter Syndrome 1
Hydronephrosis, Hydroureter, Obesity, Polysplenia OMIM:201000
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Splenomegaly, Dry skin, Micropenis, Failure to thrive OMIM:216400
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Menkes Disease
Bladder diverticulum, Dry skin, Hypoglycemia ORPHA:565
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Renal agenesis, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, M... OMIM:301040
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:610505
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis ORPHA:2437
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Neonatal hypoglycemia OMIM:616271
Hallermann-Streiff Syndrome
Dry skin, Small for gestational age OMIM:234100
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Large for gest... OMIM:614080
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Renal insufficiency, Hypoglycemia, Elevated circulating creatine ki... ORPHA:99826
Post-Traumatic Pituitary Deficiency
Hypoglycemia ORPHA:95619
Blau Syndrome
Clear cell renal cell carcinoma, Splenomegaly, Erythema, Stage 5 chronic kidney disease, Skin ulc... ORPHA:90340
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Dry skin, Periorbital wrinkles OMIM:614941
Brain-Lung-Thyroid Syndrome
Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com... ORPHA:209905
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Dry skin OMIM:614008
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Hydronephrosis, Thrombocy... OMIM:616737
3C Syndrome
Hypoplasia of penis, Hypospadias, Hydronephrosis ORPHA:7
Musculocontractural Ehlers-Danlos Syndrome
Redundant skin, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Hydrone... ORPHA:2953
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hypospadias, Hypoglycemia, Splenomegaly, Lacticaciduria, Hyperala... OMIM:252010
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia, Hypoketotic hypoglycemia ORPHA:746
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria, Obesity, Type I diabetes mellitus OMIM:619269
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypokalemia, Hypoglycemia ORPHA:786
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Perlman Syndrome
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Large for gestational age, Nephroblastomatosis, ... OMIM:267000
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Dry skin OMIM:619306
Al-Gazali Syndrome
Failure to thrive, Hydronephrosis OMIM:609465
Odontoonychodermal Dysplasia
Palmoplantar erythema, Erythema, Dry skin OMIM:257980
Baller-Gerold Syndrome
Failure to thrive in infancy, Abnormality of the ureter, Abnormal localization of kidney, Vesicou... ORPHA:1225
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Erythema, St... OMIM:308050
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis, Anemia ORPHA:163979
Adult Syndrome
Dry skin, Skin ulcer ORPHA:978
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neutropenia, Neonatal death, Failure to t... OMIM:617248
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Abnormal hemoglobin, Abnormality of the ... ORPHA:847
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Dry skin OMIM:181270
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflux, Hydronephrosis OMIM:235510
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Failure to thrive, Unilateral renal agenesis, Erythema, Facial erythema, Cutis ... OMIM:619503
Penile Agenesis
Urethral atresia, male, Hydroureter, Maternal diabetes, Fetal pyelectasis, Bilateral renal hypopl... ORPHA:49
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hydronephrosis OMIM:612513
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
Aicardi-Goutières Syndrome
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatospleno... ORPHA:51
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Failure to thrive, Hydronephrosis ORPHA:261349
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Small for gestational age, Vesicoureteral reflux, Crossed... OMIM:300707
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Dry skin, Renal cyst, Stillbirth, Polycystic kidney dysplasia, Hyperbilirubinem... OMIM:210710
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Hypospadias, Insulin resistance, Horseshoe kidney, Fasting hypoglycemi... ORPHA:96182
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Mosaic Trisomy 9
Hypoplasia of penis, Asplenia, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Renal dysp... ORPHA:99776
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Failure to thrive, Dry skin OMIM:612132
Atopic Keratoconjunctivitis
Dry skin ORPHA:163934
Barber-Say Syndrome
Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency OMIM:209885
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Micro Syndrome
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Sotos Syndrome
Glucose intolerance, Increased body weight, Neonatal hypoglycemia, Abnormality of the kidney OMIM:117550
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive in infancy, Renal hypoplasia OMIM:618975
Dermatomyositis
Abnormal eosinophil morphology, Erythema, Skin ulcer, Weight loss, Dry skin ORPHA:221
Raine Syndrome
Neonatal death, Hydroureter, Hydronephrosis, Hypophosphatemia OMIM:259775
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Small for gestational age, Hypospadias, Hypoglycemia, Vesicovaginal fistula, Hyperk... OMIM:201750
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Hypospadias, Unilateral renal agenesis, Renal cyst, Pelvic kidney, Mic... ORPHA:464311
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Hypoglycemic seizures OMIM:262600
Ablepharon Macrostomia Syndrome
Excessive wrinkled skin, Hypoplasia of penis, Dry skin, Redundant skin ORPHA:920
Stromme Syndrome
Accessory spleen, Stillbirth, Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Bartsocas-Papas Syndrome 1
Micropenis, Dry skin, Ectopic kidney OMIM:263650
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:568
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis OMIM:616449
Lujo Hemorrhagic Fever
Renal insufficiency, Microscopic hematuria, Oliguria, Dysphagia ORPHA:319213
Acth Deficiency, Isolated
Fasting hypoglycemia OMIM:201400
Histiocytoid Cardiomyopathy
Failure to thrive, Hypoglycemia, Pallor, Renal cyst ORPHA:137675
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Kabuki Syndrome 2
Neonatal hypoglycemia, Horseshoe kidney, Decreased body weight OMIM:300867
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Re... OMIM:304150
Baraitser-Winter Cerebrofrontofacial Syndrome
Failure to thrive, Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter ORPHA:2995
Chand Syndrome
Dry skin, Hydroureter ORPHA:1401
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia OMIM:620275
Distal Deletion 12Q
Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the young, Ectopic ki... ORPHA:96149
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Dry skin, Scaling skin, Skin ulcer ORPHA:2526
Dyrk1A-Related Intellectual Disability Syndrome
Small for gestational age, Hypospadias, Unilateral renal agenesis, Renal cyst, Pelvic kidney, Mic... ORPHA:464306
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Hypothyroidism, Congenital, Nongoitrous, 2
Dry skin, Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Dry skin, Scaling skin, Facial erythema ORPHA:1010
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Micropenis, Hypoglycemia OMIM:620224
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis ORPHA:314585
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent hypoglycemia, Failure to thrive, Hypoglycemia, Acral ulceration OMIM:256810
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Small for gestational age, Hypospadias, Long penis, Dry skin, Hypoplasia of... OMIM:264090
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Failure to thrive, Hydronephrosis OMIM:115150
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Erythema, Horseshoe kidney, Hydronephrosis ORPHA:2092
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Failure to thrive, Hydronephrosis ORPHA:250989
Adult Syndrome
Dry skin OMIM:103285
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Redundant skin, Cutis laxa, Hypoplasia of the thymus, Multiple bladder divertic... OMIM:613177
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Vesicoureteral reflux, Failure to thrive, Abnormal bladder morphology, Hydronephrosis ORPHA:453499
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease, Fasting hypoglycemia ORPHA:25
Tarp Syndrome
Failure to thrive, Extramedullary hematopoiesis, Hydronephrosis, Horseshoe kidney ORPHA:2886
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:2059
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Redundant neck skin, Hydronephrosis ORPHA:254528
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Perianal erythema, Hypospadias, Unilateral renal agenesis, Renal ag... OMIM:308205
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla... ORPHA:280633
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Failure to thrive,... OMIM:616580
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Hydronephrosis, Weight loss ORPHA:100078
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Otopalatodigital Syndrome Type 2
Hydronephrosis, Failure to thrive, Hypospadias, Ureteral obstruction ORPHA:90652
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis OMIM:613001
Sepsis In Premature Infants
Oliguria, Reversible renal failure ORPHA:90051
Craniofacioskeletal Syndrome
Hydronephrosis, Hypospadias, Hypocalcemia OMIM:300712
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis OMIM:618653
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis OMIM:618454
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Dry skin, Periorbital wrinkles OMIM:305100
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Hydronephrosis OMIM:617798
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... OMIM:163950
Neurooculorenal Syndrome
Hypoplasia of the bladder, Unilateral renal agenesis, Conjugated hyperbilirubinemia, Stage 2 chro... OMIM:620305
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia OMIM:131100
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Hypoglycemia OMIM:614501
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
8P Inverted Duplication/Deletion Syndrome
Micropenis, Abnormality of the urinary system, Hydronephrosis ORPHA:96092
Cat Eye Syndrome
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney OMIM:115470
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal agenesis, Large for gestational age, Renal cyst, Stillbi... OMIM:229850
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Failure to thrive, Hydronephrosis ORPHA:444072
Chime Syndrome
Abnormality of the kidney, Erythema, Skin ulcer, Acute leukemia, Hydronephrosis ORPHA:3474
Oculodentodigital Dysplasia
Neurogenic bladder, Hypoglycemia ORPHA:2710
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Obesity, Enuresis, Hydronephrosis ORPHA:96121
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Recurrent urinary tract infections, T lymphocytopenia, B lymphocytop... OMIM:251260
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Renal dysplasia OMIM:300968
Basel-Vanagaite-Smirin-Yosef Syndrome
Male urethral meatus stenosis, Hydronephrosis, Hypospadias ORPHA:464738
Mosaic Trisomy 8
Vesicoureteral reflux, Hydronephrosis ORPHA:96061
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia, Cachexia ORPHA:109
Trisomy 18
Abnormality of the upper urinary tract, Hydronephrosis, Cachexia ORPHA:3380
Ablepharon-Macrostomia Syndrome
Premature skin wrinkling, Dry skin, Redundant skin, Micropenis OMIM:200110
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia, Decreased proportion of class-switched memory B cells OMIM:233600
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia ORPHA:565624
Teebi-Shaltout Syndrome
Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis OMIM:104350
Cockayne Syndrome Type 3
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Splenomegaly, Re... ORPHA:90324
Melnick-Needles Syndrome
Ureteral stenosis, Stillbirth, Failure to thrive, Hydronephrosis OMIM:309350
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Splenopancreatic fusion, Micropenis, Failure to thri... OMIM:269150
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia OMIM:616007
White-Kernohan Syndrome
Hydronephrosis, Hydroureter, Obesity, Horseshoe kidney OMIM:619426
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight, Micropenis, Neonatal... OMIM:619004
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion ORPHA:289176
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive, Neurogenic bladder OMIM:616973
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... OMIM:604292
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Thrombocytopenia ORPHA:572798
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Small for gestational age, Hypoglycemia, Hyperammonemia, Hyperglycemia, F... OMIM:220111
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Hydronephrosis, Thrombocy... ORPHA:487796
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Obesity, Hepatosplenomegaly OMIM:301066
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... OMIM:258040
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Renal agenesis ORPHA:1848
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... ORPHA:818
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Small for gestational age, Hypospadias, Fetal pyelectasis, Ve... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Small for gestational age, Hypospadias, Fetal pyelectasis, Ve... ORPHA:363958
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis OMIM:617557
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... OMIM:192350
Alg9-Cdg
Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, Hydronephrosis,... ORPHA:79328
Congenital Alveolar Capillary Dysplasia
Asplenia, Hydronephrosis ORPHA:210122
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral re... OMIM:130650
Tooth Agenesis, Selective, 4
Dry skin OMIM:150400
Cardiogenic Shock
Oliguria ORPHA:97292
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Splenomegaly, Obesity, Anemia, H... OMIM:188400
Schinzel-Giedion Syndrome
Failure to thrive in infancy, Nephroblastoma, Hypospadias, Abnormality of the ureter, Nephrolithi... ORPHA:798
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Dry skin, Anemia ORPHA:642
Limb-Mammary Syndrome
Dry skin ORPHA:69085
Opitz Gbbb Syndrome
Vesicoureteral reflux, Abnormality of the urinary system, Hypospadias, Hydronephrosis ORPHA:2745
Floating-Harbor Syndrome
Hypospadias, Small for gestational age, Renal agenesis, Dilatation of the renal pelvis, Stage 5 c... ORPHA:2044
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Trichorhinophalangeal Syndrome, Type Ii
Vesicoureteral reflux, Redundant skin in infancy, Dry skin, Cutis laxa OMIM:150230
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Trisomy 8P
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis ORPHA:264450
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating ferritin co... OMIM:619534
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Abnormal circulating thyroglobulin level, Hypoglycemia ORPHA:226307
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... OMIM:129900
Cousin Syndrome
Hydronephrosis OMIM:260660
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Unilateral renal agenesis, Dry skin, Acute myelomonocytic leukemia, D-2-hydroxyglutaric aciduria,... ORPHA:99646
Alzahrani-Kuwahara Syndrome
Dry skin, Hypospadias OMIM:619268
Apert Syndrome
Hydronephrosis OMIM:101200
Robinow Syndrome
Multicystic kidney dysplasia, Small for gestational age, Webbed penis, Micropenis, Hydronephrosis ORPHA:97360
Costello Syndrome
Renal insufficiency, Failure to thrive, Redundant neck skin, Hypoglycemia OMIM:218040
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hypertriglyceridemia, Hypospadias, Dilatation of renal calice... ORPHA:3455
Acute Liver Failure
Thrombocytopenia, Acute kidney injury, Hypoglycemia, Hyperammonemia ORPHA:90062
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1507
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Asplenia, Dilatation of the renal pelvis, Dilatation of the bladder, Ne... OMIM:265380
Jacobsen Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Thrombocytopenia ORPHA:2308
Monosomy 22Q13.3
Obesity, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia ORPHA:48652
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis OMIM:271520
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnormality of the spleen, Obesity, ... ORPHA:1606
Rubinstein-Taybi Syndrome 1
Accessory spleen, Small for gestational age, Hypospadias, Truncal obesity, Leukemia, Failure to t... OMIM:180849
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Obesity, Nephrolithiasis, Abnormality of the uri... ORPHA:353281
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Hydronephrosis ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Hydronephrosis ORPHA:352665
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Elevated circulating creatine kinase co... OMIM:615287
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, B lymphocytopenia, Micropenis, Failure to thrive, Hydronephrosis ORPHA:83617
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction ORPHA:1826
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Micropenis, Slender build, Neonatal hypoglycemia, Large for gestational age ORPHA:457359
Okamoto Syndrome
Redundant neck skin, Urinary incontinence, Splenomegaly, Unilateral renal hypoplasia, Ureteropelv... ORPHA:2729
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... ORPHA:821
Plague
Splenomegaly, Dry skin, Skin ulcer ORPHA:707
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Nephrolithiasis, Vesicoureteral reflux, Hydronephrosis, Anemia ORPHA:438213
Johanson-Blizzard Syndrome
Diabetes mellitus, Small for gestational age, Hypospadias, Increased VLDL cholesterol concentrati... OMIM:243800
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Erythema, Failure... ORPHA:2273
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Campomelic Dysplasia
Failure to thrive, Hypospadias, Hydronephrosis OMIM:114290
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Ecchymosis, Nephrotic syndrome, Hydronephrosis OMIM:601776
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Enlarged kidney OMIM:261740
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... OMIM:619522
Knobloch Syndrome 1
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication OMIM:267750
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:616268
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Small for gestational age, Hydronephrosis ORPHA:506358
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Obesity, Nephrolithia... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Obesity, Nephrolithia... ORPHA:353277
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... ORPHA:3310
Kabuki Syndrome 1
Hemolytic anemia, Crossed fused renal ectopia, Autoimmune thrombocytopenia, Micropenis, Ureterope... OMIM:147920
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2636
Yellow Fever
Renal insufficiency, Anuria, Acute kidney injury ORPHA:99829
Charge Syndrome
Vesicoureteral reflux, Micropenis, Hydronephrosis, Horseshoe kidney ORPHA:138
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... OMIM:136140
Hydrolethalus Syndrome 1
Accessory spleen, Stillbirth, Hypospadias, Hydronephrosis OMIM:236680
Charge Syndrome
Renal agenesis, Renal hypoplasia, Horseshoe kidney, Hypocalcemia, Micropenis, Lymphopenia, Hydron... OMIM:214800
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis OMIM:135900
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hydronephrosis, Hypocalcemia OMIM:620330
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... ORPHA:709
Focal Dermal Hypoplasia
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney OMIM:305600
Robinow Syndrome, Autosomal Dominant 1
Micropenis, Hydronephrosis, Renal duplication OMIM:180700
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Polysplenia, Nephroblastoma, ... OMIM:312870
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis ORPHA:2363
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:363700
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Renal hypoplasia, Decreased body weight, Hydronephrosis OMIM:261540
Holoprosencephaly 1
Micropenis, Hypoglycemia OMIM:236100
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Asplenia, Chordee, Pelvic kidney... ORPHA:261537
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Asple... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Asplenia, Duplication of renal p... ORPHA:261552
Viss Syndrome
Failure to thrive, Hypereosinophilia, Hydronephrosis, Cutis laxa OMIM:619472
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
Otopalatodigital Syndrome, Type Ii
Stillbirth, Hypospadias, Hydronephrosis OMIM:304120
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hydronephrosis, Renal dysplasia ORPHA:480880
Genitopatellar Syndrome
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:606170
Non-Acquired Panhypopituitarism
Hypoglycemia ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypoglycemia ORPHA:95494

Histopathology

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

There is no histopathology data for Avpr2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Avpr2.

No publications found that use IMPC mice or data for Avpr2.

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MGI Allele Allele Type Produced
Avpr2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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