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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
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Renal i... ORPHA:223
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypernatremia, Polyuria, Megacystis OMIM:304800
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... 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
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria OMIM:233100
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Nephronophthisis-Like Nephropathy 2
Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilata... OMIM:619468
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria OMIM:606996
Nephronophthisis 9
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts OMIM:613824
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Polyuria OMIM:222100
Nephronophthisis 4
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... OMIM:606966
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:256100
Nephronophthisis 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... OMIM:604387
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal... OMIM:266900
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Senior-Loken Syndrome 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... OMIM:606995
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria ORPHA:95626
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... ORPHA:93101
Ochoa Syndrome
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... ORPHA:2704
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:616963
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Polyuria, Self-biting, Renal potassium ... OMIM:618314
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Glucose-Galactose Malabsorption
Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H... ORPHA:35710
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Truncal obesity, Hy... ORPHA:293964
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:613550
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polydipsia, Polyuria OMIM:613677
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
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria OMIM:143880
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Pancytopenia, ... OMIM:613845
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Failure to thrive, 3-Methylglutaconic aciduria ORPHA:67046
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Renal i... ORPHA:223
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hypoglycemia, Failure to thrive in infancy, Hyperammonemia, Abnormal circulatin... ORPHA:6
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Hypernatremia, Polyuria, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypernatremia, Polyuria, Megacystis OMIM:304800
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Central Diabetes Insipidus
Anorexia, Polydipsia, Nocturia ORPHA:178029
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Hypoglycemia, Decreased body weight ORPHA:314811
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... OMIM:606528
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperg... OMIM:262190
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Renal ... OMIM:613090
Neonatal Hemochromatosis
Abnormal localization of kidney, Increased circulating iron concentration, Hypoglycemia, Increase... ORPHA:446
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria ORPHA:2613
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Webb-Dattani Syndrome
Obesity, Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria, Hypernatremia OMIM:615926
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
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
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... ORPHA:2260
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hypoglycemia, Hyponatremia, Renal salt wasting, Hyperkalemia OMIM:614736
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... ORPHA:97362
Helix Syndrome
Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Polyuria OMIM:617671
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia, Failure to thrive OMIM:143860
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
East Syndrome
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Renal sodium was... ORPHA:199343
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Failure to thrive, Hypoglycemia, Premature skin wrinkling, Hyperalaninemia OMIM:617950
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Hypocalcemia, Nephrolithiasis, Cystinuria ORPHA:163693
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Cystinosis
Nephropathy, Aminoaciduria, Polydipsia, Renal insufficiency, Renal tubular dysfunction, Proteinur... ORPHA:213
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Renal insufficiency OMIM:615986
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Tempi Syndrome
Increased hematocrit, Facial erythema, Polycythemia, Abnormality of the kidney ORPHA:284227
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal... OMIM:602522
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Blue Diaper Syndrome
Nephrocalcinosis, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia, ... ORPHA:94086
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... ORPHA:35878
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:203400
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency, Polydipsia ORPHA:320
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Polydipsia, Renal sodium wasting, Salt craving, Polyuria, Renal salt was... OMIM:612780
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hype... ORPHA:3008
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Phenylketonuria
Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, Dr... OMIM:261600
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Dry skin, Renal dysplasia OMIM:218650
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,... ORPHA:84081
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia... ORPHA:94093
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis OMIM:222730
Congenital Lethal Erythroderma
Hypoalbuminemia, Dry skin, Failure to thrive ORPHA:1954
Bardet-Biedl Syndrome 17
Polydipsia, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Polyuria, Nephrolithiasis OMIM:617994
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Renal steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Gaisböck Syndrome
Increased red blood cell count, Nephrocalcinosis, Hypernatriuria, Increased mean corpuscular hemo... ORPHA:90041
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... ORPHA:89938
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Failure to thrive, Hypoglycemia OMIM:610090
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Thrombocytopenia, Failure to thrive, 3-Methylglutaconic aciduria ORPHA:67048
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Failure to thrive, Increase... OMIM:263400
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Abnormal circulating selenium concentration, Fasting hypoglycemia ORPHA:171706
Acquired Ichthyosis
Erythema, Renal insufficiency, Dry skin ORPHA:454
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hypoglycemia OMIM:615158
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Mody
Nephropathy, Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hy... ORPHA:552
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Hypoglycemia, Large for gestational ag... OMIM:616026
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Low-molecular-weight proteinur... ORPHA:18
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Polydipsia, Hyperphosphaturia, Hypercalciuria, Polyuria OMIM:239200
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Failure to thrive OMIM:264350
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia, Splenomegaly, Hypoglycemia ORPHA:664
Propionic Acidemia
Hyperammonemia, Organic aciduria, Hypoglycemia ORPHA:35
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Familial Renal Glucosuria
Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections ORPHA:69076
Combined Malonic And Methylmalonic Acidemia
Methylmalonic aciduria, Hypoglycemia, Failure to thrive, Dicarboxylic aciduria, Dicarboxylic acid... ORPHA:289504
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Small for... OMIM:601678
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Nephrotic syndrome ORPHA:69061
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin ... ORPHA:556037
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... ORPHA:79159
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hyperinsulinism Due To Ucp2 Deficiency
Recurrent hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia, Pallor, Reactive hyp... ORPHA:276556
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Polydipsia, Sterile pyuria, Renal magne... OMIM:248250
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Type I diabetes mellitus, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276580
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... ORPHA:26792
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketonuria, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hyp... ORPHA:2089
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Dry skin, Anemia, Increased body mass index OMIM:614450
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Thrombocytopenia, Neutro... OMIM:598500
Ichthyosis Vulgaris
Dry skin OMIM:146700
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Polydipsia,... ORPHA:411634
Orthostatic Hypotension 2
Anemia, Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Diarrhea 13
Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia OMIM:620357
Hereditary Coproporphyria
Nephropathy, Dark urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concen... ORPHA:79273
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... OMIM:615160
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Hyperglycinemia, Renal insufficiency, Hyperamylasemia, Elevated circ... OMIM:619386
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin OMIM:617920
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Low-molecular-weight pro... ORPHA:47159
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... OMIM:612925
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin ... ORPHA:556030
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Polydipsia ORPHA:251274
Erythrokeratodermia Variabilis
Erythema, Weight loss, Diabetes mellitus, Dry skin ORPHA:317
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Pallor, Reactive hypoglycemia, Increased body weight,... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Type I diabetes mellitus, Large for gestational age, Hypoketotic hypoglycemia, Hyperinsulinemia, ... ORPHA:276575
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, Increased urin... OMIM:619048
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Thrombocytopenia, Hypernatremia OMIM:620423
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Polydipsia, Salt craving, Polyuria, Nocturia, R... OMIM:263800
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Mirage Syndrome
Microphallus, Recurrent urinary tract infections, Hypoglycemia, Lymphopenia, Leukopenia, Petechia... OMIM:617053
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Erythema, Scaling skin, Palmoplantar scaling skin, Dry skin ORPHA:530838
Squalene Synthase Deficiency
Elevated urine mesaconic acid level, Failure to thrive in infancy, Hypocholesterolemia, Dry skin,... OMIM:618156
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Ulerythema Ophryogenesis
Dry skin, Facial erythema ORPHA:3406
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Organic aciduria, Hypoglycemia OMIM:614741
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret... OMIM:191800
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Hyperch... ORPHA:79237
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co... ORPHA:3337
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria OMIM:615026
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Hypernatremia OMIM:615508
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612924
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Hypoglycemia, Dry skin, Renal insufficiency, Hyperuricemia,... ORPHA:95409
Infantile Nephropathic Cystinosis
Aminoaciduria, Polydipsia, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal... ORPHA:411629
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium ORPHA:231580
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Horseshoe kidney, ... ORPHA:93111
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, Pancytopenia, Inc... OMIM:617872
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612926
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Renal tubular ... OMIM:162000
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... OMIM:620211
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, Hypophosphatem... ORPHA:263455
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Palmoplantar Keratoderma And Congenital Alopecia 2
Dry skin, Facial erythema OMIM:212360
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hypoglycemia, Hyperlipidemia, Proteinuria, Abnormality of the kidney ORPHA:369
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hypoglycemia OMIM:608688
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Familial Glucocorticoid Deficiency
Hypernatriuria, Failure to thrive, Recurrent urinary tract infections, Hyponatremia, Ketotic hypo... ORPHA:361
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Small for... OMIM:241200
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogl... OMIM:617575
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulatin... ORPHA:79096
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Uremic Pruritus
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Dry skin, Stage 5 chronic kidney... ORPHA:94059
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Porphyria Due To Ala Dehydratase Deficiency
Purple urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concentration, Hy... ORPHA:100924
Bone Marrow Failure Syndrome 4
Anemia, Dry skin, Leukopenia, Thrombocytopenia OMIM:618116
Ddost-Cdg
Nephrotic range proteinuria, Dry skin, Failure to thrive ORPHA:300536
Wolcott-Rallison Syndrome
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Hypoalbuminemia, Hyperbilir... ORPHA:1667
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia ORPHA:199296
Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Re... ORPHA:427
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria OMIM:560000
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Classic Mycosis Fungoides
Erythema, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Dry skin, Macrocyti... ORPHA:199299
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Hereditary Xanthinuria
Hypouricemia, Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, I... ORPHA:3467
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Familial Cold Urticaria
Polydipsia ORPHA:47045
Arima Syndrome
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Pr... OMIM:243910
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent... ORPHA:79473
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Dry skin, Obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:3085
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Obesity, Dry skin ORPHA:1035
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Elevated circulating propiony... OMIM:251110
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Postprandial hyperglycemia, Glycosuria,... ORPHA:2088
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Uric a... ORPHA:411536
Alg8-Cdg
Failure to thrive, Premature skin wrinkling, Hyponatremia, Cutis laxa, Thrombocytopenia, Anemia, ... ORPHA:79325
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Snakebite Envenomation
Erythema, Acute kidney injury, Ecchymosis, Hyponatremia, Thrombocytopenia ORPHA:449285
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Methylmalonic aciduria, Hypoglycemia, Failure to thrive, Hyperglycinemia, Neonatal death, Lactica... OMIM:245400
Omenn Syndrome
Failure to thrive, Dry skin, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinoph... ORPHA:39041
Dermoodontodysplasia
Dry skin OMIM:125640
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin, Thrombocytopenia OMIM:612952
Cholera
Acute kidney injury, Hypoglycemia, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, H... ORPHA:173
Mehmo Syndrome
Micropenis, Obesity, Small for gestational age, Hypoglycemia OMIM:300148
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Hypouricemia, Ketonuria, Glycosuria, Beta ... OMIM:227810
Non-Acquired Isolated Growth Hormone Deficiency
Neonatal hypoglycemia, Premature skin wrinkling, Microphallus, Abdominal obesity ORPHA:631
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, Pallor, R... OMIM:611590
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Dry skin, Decreased mean corpuscular volume, Small for gestational age OMIM:616943
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Hypoglycemia, Failure to thrive, Acute... OMIM:210200
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia OMIM:614739
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Nephrolithiasis ORPHA:369929
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Failure to thrive, Hyperechogenic kidneys, Dry s... OMIM:614576
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Proximal renal tubular acidosis OMIM:266150
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Small for gestational age, Hypoglycemia, Decreased body weight ORPHA:231140
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Failure to thrive, Hypoglycemia, Panc... OMIM:606054
Addison Disease
Normocytic anemia, Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Dry skin, Thiamine-... ORPHA:85138
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level OMIM:177735
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c... OMIM:618120
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase... OMIM:231100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Endocardial Fibroelastosis
Hypoplasia of penis, Hypoglycemia ORPHA:2022
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hypoalbuminemia, Failure to thrive, Recurrent urinary tra... OMIM:619487
Shigellosis
Acute kidney injury, Microangiopathic hemolytic anemia, Hypoglycemia, Urethritis, Failure to thri... ORPHA:810
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Weight loss, Hypophosphatemia, Aminoaci... OMIM:219800
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Overweight, Mildly elevated creatine kinase ORPHA:486815
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Leukopenia, Stage 5 chronic kidney disea... OMIM:251000
Huriez Syndrome
Dry skin, Lack of skin elasticity ORPHA:384
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... OMIM:246450
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Atelis Syndrome 1
Anemia, Dry skin, Leukopenia, Thrombocytopenia OMIM:620184
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Dry skin, Obesity, Organic aciduria, Abnormal circulating acylcarnitine concentration OMIM:620191
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Dry skin, Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Obesity, Renal insufficiency, Leukocytosis, Hypocalcemia, Hyponatre... ORPHA:247353
Distal Duplication 6P
Hydronephrosis, Dry skin, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias... ORPHA:99880
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Xanthinuria, Type Ii
Increased urinary hypoxanthine level, Xanthinuria, Renal insufficiency, Nephrolithiasis OMIM:603592
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Elevated circulating tetradecanoylcarnitine co... OMIM:619355
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Dry skin, Cutis laxa, Failure to thrive OMIM:612379
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Failure to thrive, Hypocalcemia, Nephrolithiasis, Cystinuria, Neonatal hypo... OMIM:606407
Xanthinuria, Type I
Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin... OMIM:278300
Hydroxykynureninuria
Abnormal circulating tryptophan concentration, Renal tubular acidosis, Dry skin ORPHA:79155
Parathyroid Carcinoma
Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias... ORPHA:143
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Horseshoe kidney, Increased body weight, Micropenis, Dry skin OMIM:300860
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:603553
Bachmann-Bupp Syndrome
Dry skin, Large for gestational age, Hyperbilirubinemia, Hypoglycemia OMIM:619075
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Increased serum pyruvate, Hy... OMIM:619046
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Failure to thrive, Dry skin, Splenomegaly, Decreased serum zinc, Perianal eryt... OMIM:201100
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Sjögren-Larsson Syndrome
Erythema, Dry skin ORPHA:816
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Riddle Syndrome
Dry skin OMIM:611943
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia ORPHA:231147
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Hypoglycemia, Renal steatosis, Low plasma citrulline, Fasting hypoglycemia, Impaired g... OMIM:261680
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Failure to thrive in infancy, Vesicoureteral reflux ORPHA:85285
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:300559
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hypocalce... OMIM:617913
Tangier Disease
Dry skin, Splenomegaly, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentrat... OMIM:205400
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Dry skin, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Elevat... OMIM:617388
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Hyponatremia, Weight loss, Hyperkalemia, Increased circulating reni... ORPHA:171876
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting, Failure to thrive OMIM:300200
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology OMIM:123550
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Penoscrotal hypospadias, Renal salt wasting, Neona... ORPHA:90791
Grubben-De Cock-Borghgraef Syndrome
Dry skin ORPHA:2101
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Necrotizing Enterocolitis
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Thrombocytopenia, Neutro... ORPHA:391673
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hypoglycemia, Dicarboxylic aciduria, Hyperammonemia, Elev... ORPHA:42
Colchicine Poisoning
Oliguria, Hypomagnesemia, Renal insufficiency, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatre... ORPHA:31824
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe... OMIM:616329
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Hypoglycemia, Hyperammonemia, Hydronephrosis, Decreased serum... OMIM:617093
Congenital Disorder Of Glycosylation, Type If
Dry skin, Renal cortical cysts, Failure to thrive, Scaling skin OMIM:609180
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, 2-ethylhydracylic aciduria OMIM:610006
Sheehan Syndrome
Hypoglycemia, Dry skin, Obesity, Pallor, Hyponatremia, Hyposthenuria, Normochromic anemia ORPHA:91355
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Neonatal death,... OMIM:620300
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Obesity OMIM:615996
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Small for gestational age OMIM:614702
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... ORPHA:90038
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Dry skin, Hypocalcemia, Hypercalciuria, Hype... ORPHA:428
Congenital Disorder Of Glycosylation, Type Im
Dry skin, Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Wolfram Syndrome
Nephropathy, Abnormality of the urinary system, Polydipsia, Recurrent urinary tract infections, D... ORPHA:3463
Netherton Syndrome
Aminoaciduria, Dry skin, Hydronephrosis, Ectopic kidney ORPHA:634
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Dry skin, Cutis laxa, Scaling skin ORPHA:2269
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Hypo... OMIM:210210
Hatipoglu Immunodeficiency Syndrome
Failure to thrive, Dry skin, Pancytopenia, Petechiae, Anemia, Hypospadias OMIM:620331
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, H... OMIM:605911
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Decreased proportion of naive T cells, Spleno... OMIM:619381
Recessive X-Linked Ichthyosis
Dry skin ORPHA:461
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in... OMIM:248600
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia ORPHA:2158
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu... ORPHA:71212
6P22 Microdeletion Syndrome
Hydronephrosis, Redundant skin ORPHA:251046
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:232400
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia OMIM:615453
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Beta-Ketothiolase Deficiency
Ketonuria, Hypoglycemia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Pallor, Weig... ORPHA:134
Toxic Epidermal Necrolysis
Polydipsia, Abnormality of the urethra, Renal insufficiency, Dysphagia, Dysuria ORPHA:537
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Insulin-resistant d... ORPHA:769
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Decreased circulating carnitine concentration, Hypoglycemia, Medium chain dicarb... OMIM:201450
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Glycogen Storage Disease Ixb
Hyperuricemia, Splenomegaly, Hypoglycemia OMIM:261750
Spinocerebellar Ataxia Type 34
Dry skin ORPHA:1955
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:618838
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Polydipsia ORPHA:3157
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly
Dry skin OMIM:600906
Xfe Progeroid Syndrome
Hypoalbuminemia, Failure to thrive, Dry skin, Renal insufficiency, Proteinuria, Cachexia OMIM:610965
Solitary Fibrous Tumor
Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Weight loss, R... ORPHA:2126
Laron Syndrome
Hypoglycemia, Hypoplasia of penis, Hypercholesterolemia, Truncal obesity ORPHA:633
Renal Tubular Dysgenesis
Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Hypoglycemia OMIM:246900
Pediatric-Onset Graves Disease
Polyphagia, Polydipsia, Hyperactivity ORPHA:525731
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Neonatal death, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:618835
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hypernatriuria, Failure to thrive, Abnormal urine potassium concentration, Hepatosp... ORPHA:275761
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Neonatal death, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:618839
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Nephrolithiasis OMIM:300323
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ... OMIM:276700
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Hsd10 Mitochondrial Disease
Hypoglycemia, Elevated circulating tiglylglycine concentration OMIM:300438
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Increased urinary glycerol, Pallor, Hyperuricemia, Hyp... ORPHA:348
Legionnaires Disease
Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Hyponatremia ORPHA:549
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Hyperammonemia, Neutropenia, Hypospadias, Small for gestational age OMIM:618253
Erdheim-Chester Disease
Hydronephrosis, Polydipsia, Dysuria, Renal insufficiency ORPHA:35687
Hyperuricemic Nephropathy, Familial Juvenile, 3
Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating ability OMIM:614227
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Failure to thrive OMIM:620157
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dry skin, Hypertriglyceridemia OMIM:618010
Peroxisome Biogenesis Disorder 14B
Urinary incontinence, Dry skin OMIM:614920
Lamellar Ichthyosis
Dry skin, Renal insufficiency, Lack of skin elasticity ORPHA:313
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin OMIM:275100
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Long penis, Hyperkalemia, Hypernatriuria, Failure to thrive, Hyponatremia, Weight loss, Urogenita... ORPHA:90794
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Hypoglycemia OMIM:201910
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Dicarbo... OMIM:212140
Panhypophysitis
Polydipsia, Hyposthenuria ORPHA:95513
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Failure to thrive, Hypoglycemia, Elevated circulating creatine ki... OMIM:619055
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Dry skin OMIM:129490
Microcephalic Primordial Dwarfism, Montreal Type
Dry skin ORPHA:2617
Glutaric Acidemia I
Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Failure to thrive... OMIM:231670
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin OMIM:617066
Adenohypophysitis
Hyponatremia, Pallor, Hyposthenuria, Normochromic anemia ORPHA:95512
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hyperammonemia, Hypoglycemia OMIM:620137
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease... OMIM:618061
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hypoglycemia, Renal tubular acidosis, Splenomegaly, Elevated circulating creat... ORPHA:264580
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Recurrent hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Neonatal hypogl... ORPHA:79644
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia ORPHA:1930
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Neonatal death OMIM:613390
Malonyl-Coa Decarboxylase Deficiency
Elevated urine suberic acid level, Methylmalonic aciduria, Hypoglycemia OMIM:248360
Silver-Russell Syndrome 1
Abnormality of the ureter, Nephroblastoma, Fasting hypoglycemia, Urethral valve, Hypospadias, Sma... OMIM:180860
Wolfram Syndrome 1
Hydroureter, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblastic anemia, Thro... OMIM:222300
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Scaling skin, Dry skin OMIM:614457
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Hartsfield Syndrome
Micropenis, Hypospadias, Hypernatremia OMIM:615465
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Renal insufficiency, Hyperuricosuria, Macroscopic hematuria, Ur... ORPHA:79233
Dermoodontodysplasia
Dry skin ORPHA:1660
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Anuria, Leukocytosis, Hypocalcemia, Pallor, Hyponatremia, Decrease... ORPHA:544482
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin OMIM:617364
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Polydipsia, Renal tubular acidosis, Proteinuria, Sa... ORPHA:358
Whipple Disease
Insulin resistance, Splenomegaly, Hyponatremia, Cachexia, Anemia ORPHA:3452
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Failure to ... ORPHA:168558
Thyroid Dyshormonogenesis 1
Dry skin OMIM:274400
Xeroderma Pigmentosum Variant
Dry skin ORPHA:90342
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Patent urachus, Small for gestational age, Failure to thrive OMIM:618252
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Renal tubular acidosis, Hypoglycemia ORPHA:156
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Hypoglycemia OMIM:618958
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Failure to ... ORPHA:289548
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem... ORPHA:79276
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Increased total bilirubin, Elevated circulating creatinine concentration, Decreased... OMIM:608836
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Dry skin, Pancytopenia, Leukopenia, Macrocytic anemia, Urethral stricture, Neutr... OMIM:613990
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Normocytic anemia, Sterile pyuria, Beta 2-microglobulinuria, Elevated circulating ... ORPHA:91500
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract infections, Reduced renal cort... ORPHA:731
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Acute kidney injury, Elevated circulating creatinine concentration, Unilateral... ORPHA:49041
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Failure to thrive, Hypoglycemia ORPHA:90790
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia, Hypocholesterolemia, Redundant skin, ... ORPHA:79324
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... ORPHA:230
Peeling Skin Syndrome 6
Dry skin, Scaling skin OMIM:618084
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, R... ORPHA:99845
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
19Q13.11 Microdeletion Syndrome
Dry skin, Cachexia, Hypospadias, Failure to thrive ORPHA:217346
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... OMIM:308940
Johanson-Blizzard Syndrome
Failure to thrive, Hydronephrosis, Anemia, Hypoplasia of penis, Hypospadias, Hypoproteinemia, Dia... ORPHA:2315
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatosplenomegaly, Hydronephrosis, Decreased serum zinc, Duplicated collecting system, Dermal tr... ORPHA:541423
Resistance To Thyrotropin-Releasing Hormone Syndrome
Dry skin, Abnormal circulating thyroglobulin concentration, Overweight ORPHA:99832
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Dry skin, Insulin-resistant diabetes mellitus OMIM:268020
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Failure to thrive, Hypoketotic hypoglycemia, Hy... OMIM:609015
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Truncal obesity... ORPHA:73272
Congenital Myopathy 19
Hydronephrosis, Renal atrophy OMIM:618578
Pituitary Apoplexy
Hyponatremia, Hypoglycemia, Pallor, Normochromic anemia ORPHA:95613
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Dry skin OMIM:620502
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Hyperlipi... OMIM:232200
Familial Melanoma
Dry skin ORPHA:618
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceridemia, Rena... OMIM:618183
D-Glyceric Aciduria
Aminoaciduria, Failure to thrive, Hypoglycemia, Micropenis, Elevated circulating D-glyceric conce... OMIM:220120
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Hypoketotic hypoglycemia, Decr... ORPHA:228305
Trichodysplasia-Xeroderma Syndrome
Dry skin ORPHA:3361
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Splenomegaly, Renal tubular acidosis, Elevated circulating creatine kinas... ORPHA:79240
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Carnitine Palmitoyltransferase I Deficiency
Ketonuria, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Renal tubular acidosis, Hyperammonemi... OMIM:255120
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Hypoketotic hypoglycemia, Stag... ORPHA:157
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulat... OMIM:617049
Fructose Intolerance, Hereditary
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Failure to thrive, Hypoglycemia, Hyper... OMIM:229600
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Vesicoureteral reflux, Redundant neck skin, Elevated circulating creatine kinase conc... OMIM:301056
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hypoglycemia ORPHA:231137
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections OMIM:619218
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Leopard Syndrome 2
Dry skin OMIM:611554
Koolen-De Vries Syndrome
Dry skin, Vesicoureteral reflux, Renal duplication, Hydronephrosis, Ureteral duplication, Hypospa... ORPHA:96169
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Small for gestational age, Failure to thrive OMIM:609757
Refsum Disease
Dry skin, Renal insufficiency, Splenomegaly ORPHA:773
Schopf-Schulz-Passarge Syndrome
Dry skin OMIM:224750
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Lymphopenia, Pancytopenia, Obesity, Vesicoureteral r... OMIM:620654
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, D... ORPHA:26791
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Recurrent hypoglycemia, Abnormal lymphocyte morphology, Hyponatremia, Severe B... ORPHA:293978
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Dicarboxylic aciduria, Hyperammonemia, Elevated circulating creatine kinase concent... OMIM:212138
Temple Syndrome
Obesity, Type II diabetes mellitus, Small for gestational age, Recurrent hypoglycemia ORPHA:254516
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Dry skin, Large for gestational age ORPHA:226313
Igg4-Related Aortitis
Hydronephrosis, Hypereosinophilia, Weight loss, Elevated circulating C-reactive protein concentra... ORPHA:449400
Noonan Syndrome 5
Dry skin, Large for gestational age OMIM:611553
Rhizomelic Chondrodysplasia Punctata
Dry skin ORPHA:177
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Ketonuria, Recurrent hypoglycemia, Leukopenia, Leukocytosis, Hyperammo... ORPHA:20
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Hypoglycemia, Hyperammonemia, Abnormality o... ORPHA:391428
Immunodeficiency 10
Hypoglycemia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Splenomegaly, Abno... OMIM:612783
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Radio-Tartaglia Syndrome
Dry skin, Obesity, Striae distensae OMIM:619312
Insulinoma
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Increa... ORPHA:97279
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Myoglobinuria, Hypoketotic hypoglycemia, Dicarboxylic aciduria OMIM:231530
Glycogen Storage Disease Ixc
Hypoglycemia, Splenomegaly, Fasting hypoglycemia, Hypertriglyceridemia OMIM:613027
Prolidase Deficiency
Erythema, Skin ulcer, Dry skin, Splenomegaly, Recurrent cystitis ORPHA:742
Oculocerebrorenal Syndrome Of Lowe
Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, Renal insufficiency,... ORPHA:534
Sézary Syndrome
Dry skin, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Syndromic Diarrhea
Renal hypoplasia, Lymphopenia, Dry skin, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, ... ORPHA:84064
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux, Decreased body weight OMIM:618265
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperbilirubinemia, ... OMIM:251880
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Hypoket... ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 59
Ketotic hypoglycemia, Hyperalaninemia, Failure to thrive, Dicarboxylic aciduria OMIM:620646
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Dry skin, Eosinophilia OMIM:618282
Noonan Syndrome 13
Duplicated collecting system, Dry skin OMIM:619087
Koolen-De Vries Syndrome
Failure to thrive, Recurrent urinary tract infections, Dry skin, Vesicoureteral reflux, Hydroneph... OMIM:610443
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hypoglycemia, Hyperbilirubinemia, 4-Hydro... OMIM:617156
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Hypoglycemia, Hyperammonemia, Hydronephrosis, Hypercholesterolemia OMIM:620454
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia ORPHA:5
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Dry skin, Facial erythema OMIM:308800
Acrodermatitis Enteropathica
Erythema, Skin ulcer, Failure to thrive, Dry skin, Weight loss ORPHA:37
Recon Progeroid Syndrome
Anemia, Dry skin, Scaling skin, Thrombocytopenia OMIM:620370
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Oliguria, Decreased circulating carnitine conce... ORPHA:159
Fucosidosis
Oligosacchariduria, Failure to thrive, Dry skin, Splenomegaly, Petechiae, Glycopeptiduria, Vacuol... OMIM:230000
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Microphallus, Hyponatremia, Penoscrotal hypospadias, Micropenis, Perineal hypospadias, Hyperkalem... OMIM:201810
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Hyperlipi... OMIM:232220
Juvenile Dermatomyositis
Erythema, Skin ulcer, Dry skin, Elevated circulating creatine kinase concentration, Weight loss, ... ORPHA:93672
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Dry skin, Vesicoureteral reflux OMIM:618797
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Chromosome 19Q13.11 Deletion Syndrome, Distal
Dry skin, Hypospadias, Failure to thrive OMIM:613026
Rabin-Pappas Syndrome
Failure to thrive in infancy, Obesity, Hyponatremia OMIM:620155
Agel Amyloidosis
Dry skin, Stage 5 chronic kidney disease, Proteinuria, Cutis laxa, Abnormal spleen morphology ORPHA:85448
Alg11-Cdg
Dry skin, Failure to thrive ORPHA:280071
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Exercise-induced myoglobinu... OMIM:201475
Leopard Syndrome 3
Dry skin OMIM:613707
Congenital Disorder Of Glycosylation, Type Iie
Failure to thrive, Hypoglycemia, Splenomegaly, Excessive wrinkled skin, Elevated circulating crea... OMIM:608779
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Adiposis Dolorosa
Dry skin, Obesity ORPHA:36397
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypoglycemia, Hypocalcemia, Micropenis, Hypospadias, Small for gestational age OMIM:607143
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Dry skin OMIM:618535
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hypocalcemia, Hydronephros... ORPHA:2237
Infantile Liver Failure Syndrome 2
Hyperammonemia, Hypoglycemia OMIM:616483
Leigh Syndrome
Generalized aminoaciduria, Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Renal tubular... ORPHA:506
Pili Torti-Onychodysplasia Syndrome
Dry skin ORPHA:2890
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Thrombocytopenia, Dicarboxylic aciduria OMIM:611126
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:600649
Complex Regional Pain Syndrome
Erythema, Dry skin ORPHA:83452
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Nocturia, Elevated circulating dihydroxyphenylacet... OMIM:223360
Long-Olsen-Distelmaier Syndrome
Hyperammonemia, Failure to thrive, Hypoglycemia OMIM:620609
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin, Neurogenic bladder OMIM:618527
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Failure to thrive, Hypoglycemia, 3-Methylglutaconic aciduria, Hyperalaninemia OMIM:618329
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Renal insufficiency, Oliguria ORPHA:188
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive OMIM:613735
Jung Syndrome
Dry skin ORPHA:2321
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Dilated Cardiomyopathy With Ataxia
Elevated circulating glutaric acid concentration, Normochromic microcytic anemia, 3-Methylglutaco... ORPHA:66634
Acute Monoblastic/Monocytic Leukemia
Oliguria, Anorexia ORPHA:514
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Small for gestational age, Recurrent hypoglycemia OMIM:616817
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Small for gestational age, Hypoglycemia, Decreased body weight ORPHA:391408
Aromatic L-Amino Acid Decarboxylase Deficiency
Failure to thrive, Hypoglycemia ORPHA:35708
Den Hoed-De Boer-Voisin Syndrome
Recurrent urinary tract infections, Dry skin, Obesity, Decreased body weight, Overweight OMIM:619229
Liver Disease, Severe Congenital
Hyperbilirubinemia, Hypospadias, Hypoproteinemia, Aminoaciduria, Hypocalcemia, Elevated hepatic i... OMIM:619991
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney ORPHA:1764
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Dry skin, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocyto... ORPHA:508542
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Scaling skin OMIM:612281
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Elevated circulating palmitol... ORPHA:79282
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Stage 5 chronic kidney ... ORPHA:79259
21Q22.11Q22.12 Microdeletion Syndrome
Failure to thrive in infancy, Dry skin, Anemia, Thrombocytopenia ORPHA:261323
Hypohidrotic Ectodermal Dysplasia
Nephrotic syndrome, Failure to thrive, Dry skin ORPHA:238468
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Dry skin, Redundant skin, Excessive wrinkled skin, Hydronephrosis ORPHA:1340
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Infection associated neutropenia, Renal insufficiency, 3-Methylglutaconic acidu... ORPHA:445038
Joubert Syndrome 37
Hydronephrosis, Obesity, Micropenis OMIM:619185
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Hypospadias, Small for gestational age, Microphallus ORPHA:397590
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Erythema, Dilatation of the renal pelvis, Dry skin OMIM:620510
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin ORPHA:1028
Timothy Syndrome
Hypocalcemia, Hypoglycemia OMIM:601005
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency, Dysphagia ORPHA:220393
Suleiman-El-Hattab Syndrome
Hydronephrosis, Failure to thrive OMIM:618950
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Failure to thrive in infancy, Renal insufficiency, Hydronephrosis, Thrombocytope... OMIM:611209
Holoprosencephaly
Abnormality of the urinary system, Hypoglycemia, Failure to thrive in infancy, Abnormality of the... ORPHA:2162
Donohue Syndrome
Postprandial hyperglycemia, Long penis, Hyperglycemia, Hyperinsulinemia, Severe failure to thrive... OMIM:246200
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Failure to thrive, Hypoglycemia ORPHA:95496
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Hypoglycemia, Cyclic neutropenia, Decreased glomerular filtra... OMIM:232240
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Polyphagia, Aggressive behavior, Compulsive behaviors, Enuresis ORPHA:293987
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Hematuria, Weight loss, Elevated circulating C-reactive prote... ORPHA:449395
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Dry skin, Abnormal circulating thyroglobulin conc... ORPHA:90674
Polyendocrine-Polyneuropathy Syndrome
Elevated hemoglobin A1c, Type I diabetes mellitus, Hypoglycemia OMIM:616113
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Dry skin, Hypocalcemia, Elevated circulating cr... ORPHA:466650
Smith-Kingsmore Syndrome
Hypoglycemia, Large for gestational age, Thrombocytopenia OMIM:616638
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Abnormality of the spleen, Renal hy... ORPHA:1834
Classic Galactosemia
Abnormal erythrocyte enzyme concentration or activity, Hypoglycemia ORPHA:79239
Cranioectodermal Dysplasia 3
Dry skin, Stage 5 chronic kidney disease, Cutis laxa, Nephronophthisis OMIM:614099
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Facial wrinkling, Dry skin, Gluc... OMIM:606721
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Redundant neck skin, Hydronephrosis, Abnormal ren... ORPHA:1655
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity OMIM:620511
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Splenomegaly, Redundant neck skin, Hydronephrosis, Micropenis, Hypoproteinemia OMIM:235255
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Dry skin, Thrombocytopenia, Hypertriglyceridemia, Anemia ORPHA:31150
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Nephrocalcinosis, Failure to thrive, Neutropenia OMIM:618005
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydronephrosis, Micropenis, Hypospadias, Small for gestational age OMIM:616897
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Anemia, Dry skin, Truncal obesity ORPHA:2637
Dubowitz Syndrome
Dry skin, Hydronephrosis, Thrombocytopenia, Anemia, Abnormality of neutrophils, Acute lymphoblast... ORPHA:235
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Unilateral renal agenesis, Dry skin, Scaling skin, Small for gestational age OMIM:618419
Congenital Syphilis
Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegaly, Palmoplantar scaling skin, Petech... ORPHA:499009
Cog8-Cdg
Failure to thrive, Hypoglycemia ORPHA:95428
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Ketonuria, Hypoglycemia, Hyperammonemia, Elevat... ORPHA:480864
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis OMIM:619362
Lassa Fever
Oliguria, Dysphagia ORPHA:99824
Isolated Complex I Deficiency
Proximal tubulopathy, Failure to thrive, Hypoglycemia, Increased serum pyruvate, Diabetes mellitus ORPHA:2609
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Obesity, Hypoketotic hypoglycemia, Hypocalcemia, Hyp... ORPHA:26793
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia OMIM:618494
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve OMIM:100100
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Increased urinary glycerol OMIM:229700
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent urinary trac... ORPHA:79404
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Large for gestational age, Nephroblastoma, Hydr... ORPHA:314588
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Ketonuria, Hypoglycemia, Hyperammonemia, Elevat... OMIM:616878
Infant Botulism
Hyponatremia ORPHA:178478
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Neonatal hypoglycemia, Scaling skin ORPHA:35173
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Failure to thrive, ... ORPHA:508
Intellectual Developmental Disorder, Autosomal Dominant 54
Dry skin, Small for gestational age, Urinary retention, Neutropenia OMIM:617799
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Thrombocytopenia OMIM:617710
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Dry skin, Hypoplasia of penis ORPHA:1812
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Reactive hypoglycemia, Hyperuricemi... ORPHA:469
ERI1-related disease
Failure to thrive, Vesicoureteral reflux, Decreased body weight, Hydronephrosis, Small for gestat... OMIM:608739
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus ORPHA:3378
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis, Failure to thrive ORPHA:488613
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Dry skin, Scaling skin OMIM:618373
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... ORPHA:340
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, Leukopeni... OMIM:612541
Glucocorticoid Deficiency 1
Failure to thrive, Recurrent hypoglycemia OMIM:202200
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Dry skin, Vesicoureteral reflux, Neutropenia, Micropenis, Hypospadias ORPHA:163956
Trichothiodystrophy 1, Photosensitive
Dry skin, Small for gestational age OMIM:601675
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney, Neonatal death OMIM:314390
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Pancytopenia, Distal renal tubular acidosis, Elliptocytosis, Renal tubular aci... ORPHA:2785
Diabetic Embryopathy
Hydronephrosis, Ureteral duplication, Micropenis, Renal hypoplasia/aplasia ORPHA:1926
Bardet-Biedl Syndrome 12
Hydronephrosis, Obesity, Hydroureter, Cystic renal dysplasia OMIM:615989
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... ORPHA:79403
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Slender build, Hydronephrosis ORPHA:364028
Noonan Syndrome 14
Lymphopenia, Dry skin OMIM:619745
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:613986
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Failure to thrive, Redundant neck skin, Hydronephrosis, Elevated circulating long ... OMIM:214100
Primary Sjögren Syndrome
Normocytic anemia, Skin ulcer, Lymphopenia, Leukopenia, Dry skin, Renal insufficiency, Decreased ... ORPHA:289390
Noonan Syndrome 4
Hydronephrosis, Ureteral duplication, Large for gestational age, Thrombocytopenia OMIM:610733
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis... OMIM:154230
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Hemolytic-uremic syndrome OMIM:235400
Eec Syndrome
Dry skin, Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydronephrosis, Hypoplasia of the thym... ORPHA:1896
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output ORPHA:542323
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dry skin OMIM:619244
Cockayne Syndrome B
Failure to thrive, Dry skin, Renal insufficiency, Splenomegaly, Proteinuria, Severe failure to th... OMIM:133540
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Dry skin, Scaling skin OMIM:616295
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... ORPHA:2973
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis ORPHA:261290
Silver-Russell Syndrome
Insulin resistance, Abnormality of the urinary system, Recurrent hypoglycemia, Failure to thrive ... ORPHA:813
Ethylene Glycol Poisoning
Renal insufficiency, Renal tubular dysfunction, Hematuria, Addictive alcohol use, Decreased urine... ORPHA:31826
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Neonatal d... OMIM:124000
Granulomatosis With Polyangiitis
Skin ulcer, Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Hydro... ORPHA:900
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Failure to thrive, Lymphopenia, Vesicoureteral reflux, Hydronephrosis, Renal cy... OMIM:618460
Shashi-Pena Syndrome
Unilateral renal agenesis, Hypoglycemia OMIM:617190
Kanzaki Disease
Aminoaciduria, Dry skin, Increased urinary O-linked sialopeptides, Petechiae OMIM:609242
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Hypospadias OMIM:220210
Microscopic Polyangiitis
Hematuria, Glomerulopathy, Oliguria, Renal insufficiency ORPHA:727
22Q11.2 Duplication Syndrome
Hydronephrosis, Urethral stenosis, Displacement of the urethral meatus ORPHA:1727
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Failure to thrive, Polysplenia, Hypoglycemia, Failure to thrive in infancy, Spl... OMIM:619418
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Hypoglycemia, Lacticaciduria OMIM:620451
Zttk Syndrome
Horseshoe kidney, Unilateral renal agenesis, Polyuria OMIM:617140
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Dry skin, Splenomegaly OMIM:607626
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Dry skin, Large for gestational age, Ureteropelvic junction obstruction, Hydronephrosis, Duplicat... OMIM:280000
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Failure to thrive, Neonatal death OMIM:311900
Trichothiodystrophy
Anemia, Dry skin, Increased mean corpuscular hemoglobin concentration, Neutropenia ORPHA:33364
Pancreatic And Cerebellar Agenesis
Failure to thrive, Hypoglycemia, Hyperglycemia, Anemia, Diabetes mellitus OMIM:609069
Japanese Encephalitis
Hyponatremia, Neutrophilia ORPHA:79139
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis ORPHA:2083
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Tetrasomy 15Q26
Horseshoe kidney, Hydronephrosis OMIM:614846
Zellweger Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Failure to thrive ORPHA:912
Immunodeficiency 55
Lymphopenia, Dry skin, Absent natural killer cells, Neutropenia OMIM:617827
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Neph... OMIM:211900
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dry skin, Cachexia ORPHA:220295
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal renal collecting system morphology, Methylmalonic aciduria, Failure to thrive, Hypoglyce... ORPHA:17
Kleefstra Syndrome
Obesity, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micropenis, Hypo... ORPHA:261494
Rapp-Hodgkin Syndrome
Dry skin, Hypospadias OMIM:129400
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis, Failure to thrive OMIM:619179
Hajdu-Cheney Syndrome
Failure to thrive, Skin ulcer, Dry skin, Splenomegaly, Multiple renal cysts, Hypospadias ORPHA:955
Beckwith-Wiedemann Syndrome
Nephropathy, Polycythemia, Hypoglycemia, Obesity, Large for gestational age, Vesicoureteral reflu... ORPHA:116
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia, Failure to thrive OMIM:618426
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:614921
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... ORPHA:887
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Failure to thrive, Hypoglycemia, Recurrent urinary tract infections, Slender bui... OMIM:613658
9P13 Microdeletion Syndrome
Dry skin ORPHA:324313
Tenorio Syndrome
Hypoinsulinemia, Enuresis, Hypoglycemia OMIM:616260
Microphthalmia, Syndromic 9
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Neonatal death, Hydronephrosis, Hypopl... OMIM:601186
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Failure to thrive OMIM:302960
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Dry skin, Renal insufficiency, Proteinuria, Hydronephrosis ORPHA:2750
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Neonatal hypoglycemia, Hypospadias ORPHA:457485
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Cockayne Syndrome A
Failure to thrive, Dry skin, Renal insufficiency, Splenomegaly, Proteinuria, Micropenis OMIM:216400
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Neonatal hypoglycemia OMIM:617600
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Type II diabetes mellitus, Hypoglycemia ORPHA:453533
Xeroderma Pigmentosum
Aminoaciduria, Erythema, Failure to thrive, Dry skin ORPHA:910
Carpenter Syndrome 1
Hydronephrosis, Obesity, Hydroureter, Polysplenia OMIM:201000
Naegeli-Franceschetti-Jadassohn Syndrome
Dry skin ORPHA:69087
Arthrogryposis And Ectodermal Dysplasia
Dry skin, Diabetes mellitus OMIM:601701
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:610505
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Nestor-Guillermo Progeria Syndrome
Dry skin, Failure to thrive OMIM:614008
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Dry skin OMIM:614940
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Brain-Lung-Thyroid Syndrome
Megacystis, Abnormal eating behavior, Vesicoureteral reflux, Abnormal drinking behavior, Hyperact... ORPHA:209905
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Failure to thrive, Glandular hypospadias, Renal hypoplasia/aplasia,... ORPHA:2473
Trisomy 1Q
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis ORPHA:261344
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria, Obesity, Type I diabetes mellitus OMIM:619269
Menkes Disease
Bladder diverticulum, Dry skin, Hypoglycemia ORPHA:565
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Renal agenesis, Hydronephrosis, Hypochromic microcytic anemia, Micropenis, Reduce... OMIM:301040
Zaki Syndrome
Hydronephrosis, Renal agenesis OMIM:619648
Hallermann-Streiff Syndrome
Dry skin, Small for gestational age OMIM:234100
Glycerol Kinase Deficiency
Hypoglycemia, Increased urinary glycerol, Hypertriglyceridemia, Hyperglycerolemia, Small for gest... OMIM:307030
Czeizel-Losonci Syndrome
Ureteral agenesis, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis ORPHA:2437
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Hypospadias, Increased mean platelet... OMIM:616737
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Thrombocytopenia, Neonatal hypoglycemia OMIM:616271
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Hypoglycemia, Splenomegaly, 3-hydroxydicarboxylic aciduria, Hyperalaninemia, L... OMIM:252010
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hypoalbuminemia, Hypoglycemia, Lymphopenia, Abnormal lymph... ORPHA:99826
Al-Gazali Syndrome
Hydronephrosis, Failure to thrive OMIM:609465
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Large for gestational age, Vesicoureteral reflux, Hydronephrosis, Bladder trabeculation, Ureteral... OMIM:614080
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Post-Traumatic Pituitary Deficiency
Hypoglycemia ORPHA:95619
Blau Syndrome
Nephropathy, Erythema, Skin ulcer, Dry skin, Stage 5 chronic kidney disease, Clear cell renal cel... ORPHA:90340
Musculocontractural Ehlers-Danlos Syndrome
Functional abnormality of the bladder, Horseshoe kidney, Redundant skin, Nephrolithiasis, Hydrone... ORPHA:2953
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Dry skin, Periorbital wrinkles OMIM:614941
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... ORPHA:261318
Dermatomyositis
Erythema, Abnormal eosinophil morphology, Skin ulcer, V-sign, Dry skin, Elevated circulating crea... ORPHA:221
3C Syndrome
Hydronephrosis, Hypoplasia of penis, Hypospadias ORPHA:7
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypoglycemia, Hypokalemia ORPHA:786
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Dry skin OMIM:619306
Baller-Gerold Syndrome
Failure to thrive in infancy, Abnormality of the ureter, Vesicoureteral reflux, Hydronephrosis, A... ORPHA:1225
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Dry skin, Pyelonephritis, Renal insufficiency OMIM:181270
Perlman Syndrome
Renal hamartoma, Hypoglycemia, Nephroblastomatosis, Nephrogenic rest, Large for gestational age, ... OMIM:267000
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypocalcemia ORPHA:746
Odontoonychodermal Dysplasia
Erythema, Palmoplantar erythema, Dry skin OMIM:257980
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Erythema, Failure to thrive, Hypomagnesemia, Dry skin, Hepatosplenomeg... OMIM:619503
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia OMIM:607398
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Ectopic kidney OMIM:235510
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Abnormal hemoglobin, Hydronephrosis, Abnormality of the kidne... ORPHA:847
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Hydronephrosis, Anemia, Thrombocytopenia, Micropenis, Hypospadias ORPHA:163979
Adult Syndrome
Dry skin, Skin ulcer ORPHA:978
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Erythema, Elevated 8(9)-cholestenol, Hydronephrosis, Stillbirth, Eleva... OMIM:308050
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaric aciduria, Failure to thrive, 3-Methylglutaconic aciduria, Neonatal death, Neutro... OMIM:617248
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Chromosome 2P16.1-P15 Deletion Syndrome
Hydronephrosis, Micropenis OMIM:612513
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Failure to thrive ORPHA:261349
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Fetal megacystis OMIM:619351
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Dry skin, Hepatosplenomegaly, Chronic lymphatic leukemia, M... ORPHA:51
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Vesicoureteral reflux, Hydro... OMIM:300707
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Failure to thrive, Renal dysplasia, Horseshoe kidney, Fasting hypoglycemia, H... ORPHA:96182
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... OMIM:607323
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis ORPHA:1297
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Failure to thrive, Dry skin, Hyperbilirubinemia, Renal cyst, Stillbirth, Microp... OMIM:210710
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Failure to thrive, Dry skin OMIM:612132
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Asplenia, Hypoplasia of penis, Renal dysp... ORPHA:99776
Raine Syndrome
Hydronephrosis, Hypophosphatemia, Hydroureter, Neonatal death OMIM:259775
Micro Syndrome
Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis ORPHA:2510
Congenital Myopathy 17
Hydronephrosis, Failure to thrive in infancy, Renal hypoplasia, Ureteropelvic junction obstruction OMIM:618975
Barber-Say Syndrome
Dry skin, Dermal translucency, Redundant skin, Premature skin wrinkling OMIM:209885
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Hoxha-Aliu Syndrome
Hydronephrosis, Vesicoureteral reflux OMIM:620662
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Failure to thrive, Hydronephrosis, Renal cyst, Micropenis... ORPHA:464311
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Vesicovaginal fistula, Hypoglycemia, Horseshoe kidney, Decreased circulating renin level, Hyponat... OMIM:201750
Sotos Syndrome
Increased body weight, Neonatal hypoglycemia, Glucose intolerance, Abnormality of the kidney OMIM:117550
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia OMIM:262600
Microphthalmia, Lenz Type
Hydronephrosis, Hypospadias, Hydroureter, Renal hypoplasia/aplasia ORPHA:568
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Neonatal death, Hydronephrosis, Renal... OMIM:146510
Lujo Hemorrhagic Fever
Microscopic hematuria, Oliguria, Renal insufficiency, Dysphagia ORPHA:319213
Ablepharon Macrostomia Syndrome
Dry skin, Hypoplasia of penis, Redundant skin, Excessive wrinkled skin ORPHA:920
Stromme Syndrome
Hydronephrosis, Accessory spleen, Bilateral renal hypoplasia, Stillbirth OMIM:243605
Melnick-Needles Syndrome
Hydronephrosis, Vesicoureteral reflux ORPHA:2484
Bartsocas-Papas Syndrome 1
Micropenis, Dry skin, Ectopic kidney OMIM:263650
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter, Failure to thrive ORPHA:2995
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias OMIM:616449
Histiocytoid Cardiomyopathy
Renal cyst, Pallor, Failure to thrive, Hypoglycemia ORPHA:137675
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Acth Deficiency, Isolated
Fasting hypoglycemia OMIM:201400
Kabuki Syndrome
Abnormal localization of kidney, Failure to thrive, Crossed fused renal ectopia, Obesity, Uretero... ORPHA:2322
Chand Syndrome
Dry skin, Hydroureter ORPHA:1401
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Occipital Horn Syndrome
Ureteral obstruction, Redundant skin, Hydronephrosis, Bladder diverticulum, Decreased circulating... OMIM:304150
Kabuki Syndrome 2
Horseshoe kidney, Neonatal hypoglycemia, Decreased body weight OMIM:300867
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Failure to thrive, Hydronephrosis, Renal cyst, Micropenis... ORPHA:464306
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia OMIM:620275
Distal Deletion 12Q
Maturity-onset diabetes of the young, Failure to thrive in infancy, Obesity, Vesicoureteral reflu... ORPHA:96149
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Dry skin, Skin ulcer, Scaling skin ORPHA:2526
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Dry skin, Facial erythema, Scaling skin ORPHA:1010
Pfeiffer Syndrome Type 3
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux ORPHA:93260
Hypothyroidism, Congenital, Nongoitrous, 2
Dry skin, Hyperbilirubinemia, Increased circulating thyroglobulin concentration OMIM:218700
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Hydronephrosis, Abnormal... ORPHA:391641
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Micropenis, Hypoglycemia OMIM:620224
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Failure to thrive, Recurrent urinary tract infections, Py... OMIM:301068
15Q Overgrowth Syndrome
Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormal renal morphology ORPHA:314585
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acral ulceration, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia OMIM:256810
Focal Dermal Hypoplasia
Erythema, Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia, Hydronephrosis ORPHA:2092
1Q21.1 Microdeletion Syndrome
Hydronephrosis, Vesicoureteral reflux, Failure to thrive ORPHA:250989
Cardiofaciocutaneous Syndrome 1
Hydronephrosis, Splenomegaly, Failure to thrive OMIM:115150
Wiedemann-Rautenstrauch Syndrome
Long penis, Failure to thrive, Premature skin wrinkling, Dry skin, Hypoplasia of the thymus, Hype... OMIM:264090
Adult Syndrome
Dry skin OMIM:103285
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal bladder morphology, Hydronephrosis, Vesicoureteral reflux, Failure to thrive ORPHA:453499
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Multiple bladder diverticula, Redundant skin, Hydronephrosis, Hypoplasia of the... OMIM:613177
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis, Redundant neck skin ORPHA:254528
Fryns Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias ORPHA:2059
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Glutaric aciduria, Fasting hypoglycemia ORPHA:25
Bardet-Biedl Syndrome
Chronic kidney disease, Insulin resistance, Horseshoe kidney, Obesity, Impaired fasting glucose, ... ORPHA:110
Atopic Keratoconjunctivitis
Dry skin ORPHA:163934
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Failure to thrive, Extramedullary hematopoiesis ORPHA:2886
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Pelvic kidney OMIM:613001
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst OMIM:618454
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hydronephrosis ORPHA:1358
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Failure to thrive, Vesicoureteral reflux,... OMIM:616580
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Hypoglycemia OMIM:131100
Otopalatodigital Syndrome Type 2
Hydronephrosis, Ureteral obstruction, Hypospadias, Failure to thrive ORPHA:90652
Intellectual Developmental Disorder, Autosomal Dominant 53
Hydronephrosis, Micropenis OMIM:617798
Ileal Neuroendocrine Tumor
Hydronephrosis, Weight loss, Iron deficiency anemia ORPHA:100078
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... OMIM:620305
Sepsis In Premature Infants
Oliguria, Reversible renal failure ORPHA:90051
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Hydronephrosis, Vesicoureteral reflux OMIM:620663
Craniofacioskeletal Syndrome
Hydronephrosis, Hypospadias, Hypocalcemia OMIM:300712
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Vesicoureteral reflux, Hydronephrosis, Micropenis, Pelvic kidney OMIM:618653
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Dry skin, Periorbital wrinkles OMIM:305100
Cat Eye Syndrome
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux, Renal agenesis OMIM:115470
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Cerebellar-Facial-Dental Syndrome
Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive ORPHA:444072
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Polysplenia, Hypoglycemia, Splenomegaly, Nephroblastom... ORPHA:373
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Failure to thrive, ... OMIM:270400
8P Inverted Duplication/Deletion Syndrome
Hydronephrosis, Abnormality of the urinary system, Micropenis ORPHA:96092
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Urinary bla... ORPHA:280633
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Hypoglycemia OMIM:614501
Fryns Syndrome
Renal agenesis, Polysplenia, Large for gestational age, Hydronephrosis, Renal cyst, Stillbirth, U... OMIM:229850
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Abnormality of renal excretion, Hyperphosphaturia ORPHA:289176
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias, Male urethral meatus stenosis ORPHA:464738
Chime Syndrome
Erythema, Acute leukemia, Skin ulcer, Hydronephrosis, Abnormality of the kidney ORPHA:3474
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Perianal erythema, Renal agenesis, Dry s... OMIM:308205
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Hydronephrosis, Thrombocytopenia... OMIM:251260
Oculodentodigital Dysplasia
Neurogenic bladder, Hypoglycemia ORPHA:2710
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hypospadias, Obesity, Hydronephrosis, Enuresis ORPHA:96121
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Renal dysplasia OMIM:300968
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Failure to thrive in infancy, Dry skin, Amegakaryocytic thrombo... OMIM:163950
Mosaic Trisomy 8
Hydronephrosis, Vesicoureteral reflux ORPHA:96061
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Hypoglycemia ORPHA:109
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract, Cachexia ORPHA:3380
Ablepharon-Macrostomia Syndrome
Micropenis, Dry skin, Redundant skin, Premature skin wrinkling OMIM:200110
Immunodeficiency 59 And Hypoglycemia
Decreased proportion of class-switched memory B cells, Hypoglycemia OMIM:233600
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydronephrosis, Ureteral triplication OMIM:104350
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Teebi-Shaltout Syndrome
Horseshoe kidney, Hydronephrosis, Ureteral stenosis OMIM:272950
Deeah Syndrome
Decreased body weight, Thrombocytopenia, Micropenis, Neonatal hypoglycemia, Decreased hemoglobin ... OMIM:619004
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia ORPHA:565624
Melnick-Needles Syndrome
Hydronephrosis, Failure to thrive, Ureteral stenosis, Stillbirth OMIM:309350
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Renal agenesis, Ureterocele, Megacystis, Vesicoureteral reflux, Hydronephrosis, Blad... OMIM:604292
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Failure to thrive, Ureteral stenosis, Hydronephrosis, Micropenis, Splenopancreatic f... OMIM:269150
Visceral Myopathy 1
Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis OMIM:155310
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Neurogenic bladder, Ureteropelvic junction obstruction, Failure to thrive OMIM:616973
Vater/Vacterl Association
Renal agenesis, Failure to thrive, Vesicoureteral reflux, Ureteropelvic junction obstruction, Hyd... OMIM:192350
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia OMIM:616007
White-Kernohan Syndrome
Horseshoe kidney, Obesity, Hydronephrosis, Hydroureter OMIM:619426
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Hypospadias, Increased mean platelet... ORPHA:487796
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Thrombocytopenia ORPHA:572798
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hypospadias, Small for... OMIM:220111
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Ureteropelvic junction obstruction... ORPHA:818
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Micropenis, Pelvic kid... OMIM:258040
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Obesity, Hepatosplenomegaly, Hypoglycemia OMIM:301066
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Slender build, Vesicoureteral reflux, Renal duplication, Feta... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Slender build, Vesicoureteral reflux, Renal duplication, Feta... ORPHA:363958
Gabriele-De Vries Syndrome
Hydronephrosis, Ureteropelvic junction obstruction OMIM:617557
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, N... OMIM:130650
Alg9-Cdg
Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Ureteral hypoplasia,... ORPHA:79328
Congenital Alveolar Capillary Dysplasia
Hydronephrosis, Asplenia ORPHA:210122
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Renal agenesis ORPHA:1848
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Digeorge Syndrome
Unilateral renal agenesis, Obesity, Renal insufficiency, Splenomegaly, Hypocalcemia, Hydronephros... OMIM:188400
Tooth Agenesis, Selective, 4
Dry skin OMIM:150400
Limb-Mammary Syndrome
Dry skin ORPHA:69085
Schinzel-Giedion Syndrome
Failure to thrive in infancy, Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydrone... ORPHA:798
Thyroid Ectopia
Dry skin ORPHA:95712
Opitz Gbbb Syndrome
Hydronephrosis, Abnormality of the urinary system, Hypospadias, Vesicoureteral reflux ORPHA:2745
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Dry skin, Anemia ORPHA:642
Floating-Harbor Syndrome
Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic kidney disease,... ORPHA:2044
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Renal agenesis, Ureterocele, Vesicoureteral reflux, Hydronephrosis, Bladder divertic... OMIM:129900
Mckusick-Kaufman Syndrome
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula OMIM:236700
Trichorhinophalangeal Syndrome, Type Ii
Dry skin, Redundant skin in infancy, Cutis laxa, Vesicoureteral reflux OMIM:150230
Robinow Syndrome, Autosomal Recessive 1
Nephrocalcinosis, Renal duplication, Nephrolithiasis, Hydronephrosis, Micropenis, Hypospadias OMIM:268310
Trisomy 8P
Hydronephrosis, Nephrocalcinosis, Fetal pyelectasis, Micropenis ORPHA:264450
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Dilatation of the renal pelvis, Failure to thrive, Hyperechogenic kidneys, Incre... OMIM:619534
Cousin Syndrome
Hydronephrosis OMIM:260660
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Unilateral renal agenesis, Acute myelomonocytic leukemia, Failure to thrive, Dry skin, D-2-hydrox... ORPHA:99646
Alzahrani-Kuwahara Syndrome
Dry skin, Hypospadias OMIM:619268
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Recurrent urinary tract infections, Premature skin wrinkling, Slender build, W... ORPHA:3455
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis, Small for gestational age ORPHA:97360
Apert Syndrome
Hydronephrosis OMIM:101200
Costello Syndrome
Renal insufficiency, Failure to thrive, Hypoglycemia, Redundant neck skin OMIM:218040
Monosomy 22Q13.3
Obesity, Recurrent pyelonephritis, Vesicoureteral reflux, Hydronephrosis, Renal dysplasia ORPHA:48652
Acute Liver Failure
Hypoglycemia, Acute kidney injury, Hyperammonemia, Thrombocytopenia ORPHA:90062
Autosomal Recessive Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:1507
Cardiogenic Shock
Oliguria ORPHA:97292
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the renal pelvis, Hydroureter, Dilatation of the bladder, Neonatal death, Hydroneph... OMIM:265380
1P36 Deletion Syndrome
Failure to thrive, Abnormality of the spleen, Obesity, Hydronephrosis, Renal cyst, Abnormality of... ORPHA:1606
Jacobsen Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Thrombocytopenia ORPHA:2308
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Urethral atresia OMIM:271520
Rubinstein-Taybi Syndrome 1
Accessory spleen, Failure to thrive, Hydronephrosis, Truncal obesity, Leukemia, Hypospadias, Smal... OMIM:180849
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infections, Obesity... ORPHA:353281
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hydronephrosis, Vesicoureteral reflux ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hydronephrosis, Vesicoureteral reflux ORPHA:352665
Frontometaphyseal Dysplasia
Hydronephrosis, Ureteral obstruction, Urethral stenosis ORPHA:1826
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Hydronephrosis, Micropenis, B lymphocytopenia, Severe B lymphocytopenia ORPHA:83617
Okamoto Syndrome
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Splenomegaly, Redundant neck ski... ORPHA:2729
Sotos Syndrome
Renal agenesis, Hypercalcemia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction... ORPHA:821
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Micropenis, Slender build, Large for gestational age, Neonatal hypoglycemia ORPHA:457359
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hydronephrosis, Nephrotic syndrome, Ecchymosis OMIM:601776
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis,... ORPHA:438213
Johanson-Blizzard Syndrome
Urethrovaginal fistula, Failure to thrive, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol... OMIM:243800
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Enlarged kidney OMIM:261740
Plague
Dry skin, Skin ulcer, Splenomegaly ORPHA:707
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Erythema, Hydroureter, Failure to thrive, Hydronephrosis, Abnormality of the upper urinary tract,... ORPHA:2273
Knobloch Syndrome 1
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication OMIM:267750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis, Elevated circulating creatine kinase co... OMIM:615287
Campomelic Dysplasia
Hydronephrosis, Hypospadias, Failure to thrive OMIM:114290
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ur... OMIM:619522
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Hypoglycemia ORPHA:226307
Arboleda-Tham Syndrome
Hydronephrosis, Recurrent urinary tract infections OMIM:616268
Kabuki Syndrome 1
Crossed fused renal ectopia, Ureteropelvic junction obstruction, Hydronephrosis, Micropenis, Auto... OMIM:147920
Gabriele-De Vries Syndrome
Hydronephrosis, Ureteropelvic junction obstruction, Small for gestational age ORPHA:506358
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infections, Obesity... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infections, Obesity... ORPHA:353277
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Micro... ORPHA:3310
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
Cardiac Valvular Dysplasia 1
Hydronephrosis, Hydroureter, Urethral diverticulum OMIM:212093
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2636
Yellow Fever
Acute kidney injury, Renal insufficiency, Anuria ORPHA:99829
Charge Syndrome
Hydronephrosis, Micropenis, Vesicoureteral reflux, Horseshoe kidney ORPHA:138
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hydronephrosis, Hypocalcemia OMIM:620330
Floating-Harbor Syndrome
Nephrocalcinosis, Glandular hypospadias, Hydronephrosis, Hypospadias, Congenital posterior urethr... OMIM:136140
Peters Plus Syndrome
Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Ureter... ORPHA:709
Hydrolethalus Syndrome 1
Hydronephrosis, Hypospadias, Accessory spleen, Stillbirth OMIM:236680
Charge Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Lymphopenia, Hypocalcemia, Hydronephrosis, Mi... OMIM:214800
Coffin-Siris Syndrome 1
Renal hypoplasia, Hydroureter, Hydronephrosis, Ectopic kidney, Hypospadias OMIM:135900
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Focal Dermal Hypoplasia
Hydronephrosis, Ureteral duplication, Bifid ureter, Horseshoe kidney OMIM:305600
Robinow Syndrome, Autosomal Dominant 1
Hydronephrosis, Micropenis, Renal duplication OMIM:180700
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Polysplenia, Splenomegaly, Nephroblastoma, Hydronephrosis, Renal cys... OMIM:312870
Lacrimoauriculodentodigital Syndrome
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux ORPHA:2363
Peters-Plus Syndrome
Renal hypoplasia, Decreased body weight, Hydronephrosis, Ureteral duplication, Hypospadias OMIM:261540
Viss Syndrome
Hydronephrosis, Cutis laxa, Hypereosinophilia, Failure to thrive OMIM:619472
Acrofacial Dysostosis, Cincinnati Type
Hydronephrosis, Failure to thrive, Decreased body weight OMIM:616462
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Multicystic kidney dysplasia, Failure to thrive, Vesicoureteral reflux, Renal dupli... ORPHA:261537
Mowat-Wilson Syndrome
Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Decreased b... ORPHA:2152
Holoprosencephaly 1
Micropenis, Hypoglycemia OMIM:236100
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydronephrosis, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:363700
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Failure to thrive, Vesic... ORPHA:261552
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula ORPHA:93271
Otopalatodigital Syndrome, Type Ii
Hydronephrosis, Hypospadias, Stillbirth 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
Non-Acquired Panhypopituitarism
Hypoglycemia ORPHA:90695
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:606170
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.

Order Mouse and ES Cells

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

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

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