Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
insulin II
Synonyms:
Ins-2,  Mody4,  Mody,  InsII

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ins2 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 Ins2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ins2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Diffuse mesangial sclerosis, Podocyte foot process effaceme... OMIM:618594
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:610725
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis OMIM:182690
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:615573
Diabetes Mellitus, Ketosis-Prone
Autoimmunity, Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial ... OMIM:615244
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:600995
Uridine-Cytidineuria
Elevated uridine in urine, Elevated urinary cytidine OMIM:618477
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis OMIM:614196
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Systemic lupus erythematosus, Hyperinsulinemic hypoglycemia, Insulin resist... ORPHA:411593
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... OMIM:619155
Nail-Patella-Like Renal Disease
Microscopic hematuria, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2613
Mody
Abnormal oral glucose tolerance, Abnormal insulin level, Hyperinsulinemic hypoglycemia, Glucose i... ORPHA:552
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:603278
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Truncal obesity, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Abnormality of the urina... ORPHA:99886
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Polyphagia, Red hair, Growth de... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Polyphagia, Red hair, Growth de... ORPHA:71526
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:616730
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Protein... OMIM:618349
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Type 1 Diabetes Mellitus
Polyphagia, Polyuria, Diabetes mellitus, Hyperglycemia, Polydipsia OMIM:222100
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Glycosuria, Type I diabetes mellitus, Small for gestational age, Ketonuria OMIM:618857
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria OMIM:161900
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Renal tubular atrophy, Small for gestational age, Renal insufficiency, Diff... OMIM:256300
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Lethargy, Hyperi... ORPHA:276575
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glomerular viscera... ORPHA:567548
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancre... ORPHA:79084
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Nephrotic syndro... ORPHA:84090
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Acquired Partial Lipodystrophy
Insulin resistance, Autoimmunity, Hepatic steatosis, Glomerulopathy, Microscopic hematuria, Prote... ORPHA:79087
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Weight loss, Type II diabetes mellitus, Systemic lupus erythematos... ORPHA:2298
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Nephrocalcinosis, Hyperphosphaturia, Aminoaciduria, Hypoglycemia, Glycosuria, Hepatomegaly, Diabe... OMIM:616026
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617006
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic is... ORPHA:276556
Temple Syndrome
Scoliosis, Cryptorchidism, Polyphagia, Postnatal growth retardation, Obesity, Small for gestation... ORPHA:254516
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Failure to thrive, Ketonuria ORPHA:2089
Mahvash Disease
Type II diabetes mellitus, Increased glucagon level, Pancreatic alpha-cell hyperplasia, Recurrent... OMIM:619290
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Lipodystrophy, Insulin-resistant diabetes mellitus, Hyp... OMIM:608600
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypoglycemia, Stage 5 chronic kidney disease, Nephrotic syndr... OMIM:617575
Hereditary Central Diabetes Insipidus
Lethargy, Growth delay, Weight loss, Irritability, Diabetes insipidus, Polydipsia ORPHA:30925
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Cholestasis, Obes... OMIM:609734
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver, Diabetes mellitus DECIPHER:47
Insulinoma
Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Polyphagia, ... ORPHA:97279
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus OMIM:246650
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Nephrocalcinosis, Hyperphosphaturia, Generalized aminoaciduria, Postprandia... ORPHA:2088
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity ORPHA:71529
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Decreased testicular size, Hypogona... OMIM:614962
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Hyperinsulinemia, Short stature, Obesity ORPHA:329249
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Leptin Receptor Deficiency
Polyphagia, Aggressive behavior, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Decrea... OMIM:614963
Cataract 47
Glycosuria OMIM:612018
Central Diabetes Insipidus
Lethargy, Depression, Nocturia, Weight loss, Anxiety, Failure to thrive, Diabetes insipidus, Poly... ORPHA:178029
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Failure to thrive, Glycosuria OMIM:606824
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Orthosta... OMIM:606721
Hematuria, Benign Familial
Thin glomerular basement membrane, Hematuria OMIM:141200
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:618348
Huntington Disease
Inability to walk, Choking episodes, Decreased body mass index, Dystonia, Disinhibition, Polyphag... ORPHA:399
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria OMIM:614034
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Schaaf-Yang Syndrome
Inability to walk, Cryptorchidism, Scoliosis, Arthrogryposis multiplex congenita, Polyphagia, Cam... OMIM:615547
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:614817
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Moderate albuminuria, Abnormality of the upper urinary tract, Weight l... ORPHA:99885
Cystinosis
Renal insufficiency, Nephrogenic diabetes insipidus, Rickets, Hypothyroidism, Gait disturbance, A... ORPHA:213
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome ORPHA:839
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Glomerulonephritis, Microscopic he... ORPHA:567544
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Renal Glucosuria
Polyphagia, Polyuria, Glycosuria, Enuresis nocturna, Polydipsia OMIM:233100
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Postnatal growth retardation... OMIM:232700
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase concent... OMIM:619048
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitus, Failure to thrive, ... ORPHA:181393
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity OMIM:248100
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hepatic steatosis, Diabetes mellitus, Insulin resistance OMIM:615980
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration, Type II diabetes mellitus, Hyperglycemia, Cardiomyo... OMIM:520000
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Morbid Obesity And Spermatogenic Failure
Obesity, Hepatic steatosis, Type II diabetes mellitus, Insulin resistance OMIM:615703
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Diabetes mellitus, Prote... OMIM:608709
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Retinal thinning OMIM:618970
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Weight loss, Hyperhidrosis, Irritability, Hyperactivity OMIM:275000
Sim1-Related Prader-Willi-Like Syndrome
Scoliosis, Cryptorchidism, Skin-picking, Scrotal hypoplasia, Central hypothyroidism, Clitoral hyp... ORPHA:398079
Fanconi Renotubular Syndrome 3
Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria OMIM:615605
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency OMIM:613388
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome OMIM:613779
Denys-Drash Syndrome
Focal segmental glomerulosclerosis, Nephropathy, Nephroblastoma, Stage 5 chronic kidney disease, ... OMIM:194080
Manganese Poisoning
Dystonia, Inappropriate laughter, Aggressive behavior, Akinesia, Depression, Hypersexuality, Impa... ORPHA:306682
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Renal insufficiency, Hyperglycemia, Polydipsia, Obesity OMIM:615986
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Oligohydramnios, Enlarged kidney, Tubulointerstitial fibrosis, Hepatic cysts... OMIM:263200
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Hypertension, I... OMIM:604367
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Postnatal growth ... OMIM:617093
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis OMIM:617056
Gilbert Syndrome
Jaundice, Dehydration OMIM:143500
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Denys-Drash Syndrome
Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:220
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Frasier Syndrome
Focal segmental glomerulosclerosis, Glomerulopathy, Nephroblastoma, Nephrotic syndrome, Renal ins... ORPHA:347
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Donohue Syndrome
Ovarian cyst, Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Cho... OMIM:246200
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... OMIM:260370
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Gait ataxia, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Reduced intraabd... ORPHA:363400
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertr... OMIM:612526
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:179494
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Polyphagia... ORPHA:525731
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Jaundice, Bicornuate uterus, Papillary cystadenoma of the epididymis, Renal ... ORPHA:93111
Myasthenia Gravis
Systemic lupus erythematosus, Abnormality of the thymus, Primary adrenal insufficiency, Rheumatoi... ORPHA:589
Magel2-Related Prader-Willi-Like Syndrome
Scoliosis, Cryptorchidism, Skin-picking, Scrotal hypoplasia, Central hypothyroidism, Clitoral hyp... ORPHA:398069
Hemochromatosis Type 2
Hypogonadism, Diabetes mellitus, Congenital hepatic fibrosis, Abnormality of endocrine pancreas p... ORPHA:79230
2Q23.1 Microdeletion Syndrome
Generalized hirsutism, Cryptorchidism, Highly arched eyebrow, Polyphagia, Self-injurious behavior... ORPHA:228402
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Scoliosis, Cryptorchidism, Skin-picking, Decreased circulating T4 level, Scrotal hypoplasia, Cent... ORPHA:98754
Pick Disease Of Brain
Emotional blunting, Inappropriate laughter, Disinhibition, Polyphagia, Apathy, Diminished motivat... OMIM:172700
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Inappropriate laughter, Polyphagia, Ataxia, Obesity, Hyperactivity, Bro... ORPHA:411515
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Severe short-limb dwarfism, Hepatic steatosis, Insulin-resistant diabetes m... ORPHA:436182
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Scoliosis, Cryptorchidism, Skin-picking, Decreased circulating T4 level, Scrotal hypoplasia, Cent... ORPHA:98793
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Polyphagia, Apathy, Diminished motivation, Inappropriate s... OMIM:600274
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Rabson-Mendenhall Syndrome
Premature graying of hair, Impaired glucose tolerance, Hirsutism, Hypertrichosis, Clitoral hypert... ORPHA:769
Senior-Loken Syndrome 4
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Postencephalitic Parkinsonism
Abnormal aggressive, impulsive or violent behavior, Akinesia, Depression, Camptocormia, Dysphagia... ORPHA:97349
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Scoliosis, Cryptorchidism, Skin-picking, Decreased circulating T4 level, Scrotal hypoplasia, Cent... ORPHA:177904
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Aciduria, Hypoglycemia OMIM:617950
Galactosemia I
Albuminuria, Aminoaciduria, Increased level of galactitol in urine, Galactosuria, Failure to thrive OMIM:230400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, Cholest... OMIM:617156
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Hepatic steatosis, Proximal tubulopathy, Generalized ami... OMIM:231680
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Scoliosis, Cryptorchidism, Skin-picking, Decreased circulating T4 level, Scrotal hypoplasia, Cent... ORPHA:177901
Fanconi Renotubular Syndrome 1
Lacticaciduria, Aminoaciduria, Glycosuria, Renal insufficiency, Renal tubular dysfunction, Protei... OMIM:134600
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Hyperlordosis, Depression, Difficulty walking, Gait disturbance, Multiple joint co... ORPHA:352470
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Long eyelashes, Cystinuria, Fa... OMIM:606407
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Abnormal renal morphology, Glucose intolerance, Exocrine pa... OMIM:137920
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia, Failure to thrive, Renal tubular dysfu... OMIM:606528
Diabetes Insipidus, Neurohypophyseal Type
Polydipsia, Central diabetes insipidus, Polyuria, Hydronephrosis OMIM:304900
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Nephropathy OMIM:242530
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Proximal tubulopathy, Polyuria, Ataxia, Hepatomegaly, Type I diabetes mell... OMIM:560000
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2668
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:609049
Perry Syndrome
Dystonia, Disinhibition, Akinesia, Depression, Apathy, Weight loss, Bradykinesia, Anxiety, Inappr... OMIM:168605
Hypotonia-Cystinuria Syndrome
Polyphagia, Growth delay, Cystinuria, Failure to thrive, Nephrolithiasis ORPHA:163690
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Hyperglycemia, Diabetes mellitus OMIM:609069
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Ochoa Syndrome
Cryptorchidism, Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, V... ORPHA:2704
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Increased hepatocellular lipid droplets, Aminoaciduria, Glycosuria, Hepatomega... OMIM:220110
Mitchell-Riley Syndrome
Hyperglycemia, Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gall... OMIM:615710
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:66628
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Short statu... OMIM:610717
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Polyphagia, External genital hypoplasia, Short stature, Hypogonadotropi... ORPHA:177910
Wilson Disease
Cirrhosis, Hyperphosphaturia, Hepatocellular carcinoma, Aminoaciduria, Glycosuria, Hepatomegaly, ... OMIM:277900
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Aminoaciduria, Glycosuria, Hepatomegaly, Failure to thrive, Renal... ORPHA:436271
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria, Akinesia, Hypothyroidism, Growth delay, Small for gestatio... OMIM:619147
Prader-Willi-Like Syndrome
Scoliosis, Cryptorchidism, Skin-picking, Decreased circulating T4 level, Scrotal hypoplasia, Cent... ORPHA:398073
C3 Glomerulopathy
Hematuria, Acute kidney injury, Membranoproliferative glomerulonephritis, Chronic kidney disease,... ORPHA:329918
Diabetes Insipidus, Nephrogenic, X-Linked
Megacystis, Polyuria, Irritability, Failure to thrive, Short stature, Diabetes insipidus, Polydipsia OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Nephrogenic diabetes insipidus, Polyuria, Irritability, Failure to thrive, Short stat... OMIM:125800
Prader-Willi Syndrome
Scoliosis, Cryptorchidism, Scrotal hypoplasia, Failure to thrive in infancy, Clitoral hypoplasia,... OMIM:176270
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Aminoaciduria, Biliary hyperplasia, Glycosuria, Jaundice, Failure to t... OMIM:210550
Complement Component C1S Deficiency
Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Macroglossia, Hyperinsulinemia, Insulin resistance, Hepatic stea... ORPHA:528
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Nephritis OMIM:614420
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Cryptorchidism, Short stature, Akinesia, Obesity OMIM:618822
Fetal Akinesia Deformation Sequence
Scoliosis, Cryptorchidism, Camptodactyly of finger, Arthrogryposis multiplex congenita, Akinesia,... ORPHA:994
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria OMIM:618913
Cystinosis, Nephropathic
Hypohidrosis, Male hypogonadism, Failure to thrive in infancy, Delayed puberty, Renal insufficien... OMIM:219800
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Marked muscular hypertr... ORPHA:435660
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Dehydration, Intrauter... OMIM:618958
Prader-Willi Syndrome
Scoliosis, Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Decreased circulating gona... ORPHA:739
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Delayed puberty, Female external genitali... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Delayed puberty, Female external genitali... ORPHA:168558
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Enteric Anendocrinosis
Type I diabetes mellitus, Portal hypertension, Dehydration, Cholestatic liver disease ORPHA:83620
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Dehydration ORPHA:28
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... OMIM:203780
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Failure ... OMIM:220111
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus, Hepatic steatosis OMIM:613877
Spinocerebellar Ataxia Type 27
Gait ataxia, Truncal ataxia, Aggressive behavior, Akinesia, Depression, Difficulty walking, Limb ... ORPHA:98764
Aceruloplasminemia
Dystonia, Gait ataxia, Akinesia, Apathy, Elevated hepatic iron concentration, Limb ataxia, Blepha... ORPHA:48818
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Enlarged kidney, Insulin-r... ORPHA:90301
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Cirrhosis, Maternal diabetes, Insulin resistance, Myopathy, Loss of ... ORPHA:79083
Amyloidosis, Familial Visceral
Hematuria, Proteinuria, Nephropathy, Nephrotic syndrome OMIM:105200
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Kufor-Rakeb Syndrome
Dystonia, Aggressive behavior, Akinesia, Dysphagia, Gait disturbance, Ataxia, Bradykinesia, Hypok... OMIM:606693
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Parathyroid Carcinoma
Weight loss, Hypercalciuria, Renal hamartoma, Primary hyperparathyroidism, Elevated circulating p... ORPHA:143
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Hepatic... OMIM:604387
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Combined Malonic And Methylmalonic Aciduria
Dehydration, Methylmalonic aciduria OMIM:614265
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, 3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia ORPHA:67046
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Increased urinary potassium, Renal salt wa... OMIM:602522
Atypical Juvenile Parkinsonism
Inability to walk, Scoliosis, Dystonia, Gait ataxia, Akinesia, Bradykinesia, Short stepped shuffl... ORPHA:391411
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Skeletal muscle hypertrophy, Lipoatrophy, Lipo... ORPHA:2348
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... OMIM:151660
Dent Disease 1
Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Proximal tubulopath... OMIM:300009
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Apparent Mineralocorticoid Excess
Renal insufficiency, Nephrocalcinosis, Abnormality of circulating cortisol level, Decreased circu... ORPHA:320
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Hypertension, Hepatic fibrosis, Hypertriglyceri... ORPHA:280356
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Recurrent fractures, Aminoaciduria, Polyuria, Hepatomegaly, Hypercalciuria, Sp... OMIM:239200
Glycogen Storage Disease X
Renal insufficiency, Myoglobinuria OMIM:261670
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dehydration, Dicarboxylic aciduria ORPHA:79159
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration, Decreased liver function, Myoglobinuria OMIM:602199
Spastic Paraplegia Type 7
Scoliosis, Dysphagia, Urinary urgency, Spastic gait, Abnormal mitochondrial morphology, Attention... ORPHA:99013
East Syndrome
Inability to walk, Difficulty walking, Enuresis, Hyperaldosteronism, Increased circulating renin ... ORPHA:199343
Hereditary Late-Onset Parkinson Disease
Dystonia, Akinesia, Depression, Spastic/hyperactive bladder, Dysphagia, Apathy, Weight loss, Brad... ORPHA:411602
Pearson Marrow-Pancreas Syndrome
Complex organic aciduria, 3-Methylglutaric aciduria, Pancreatic fibrosis, Type I diabetes mellitu... OMIM:557000
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis OMIM:616963
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hirsutism, Increased serum serotonin, Small for gestational age, Short stature, Hyperac... ORPHA:85288
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Decreased liver function, Elevated hepatic transaminase, Failure to... OMIM:616974
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Failure to thrive, Diff... OMIM:617729
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Growth delay, Polyuria, Renal tubul... OMIM:256100
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased liver function, Elevated hepatic transaminase, Hepatic steatosis OMIM:616829
Classic Progressive Supranuclear Palsy Syndrome
Dystonia, Axial dystonia, Akinesia, Blepharospasm, Bradykinesia, Neuromuscular dysphagia, Impulsi... ORPHA:240071
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Dysdiadochokinesis, Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Hyperaldosteronis... OMIM:612780
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalciuria, Renal hamartoma, Primary hyperparathyroidism, Elevated circulating parathyroid ho... ORPHA:99880
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Hepatic steatosis, Ketotic hypoglycemia, Intraut... ORPHA:26792
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Myopathy, Congenital, Progressive, With Scoliosis
Scoliosis, Cryptorchidism, Renal atrophy, Dysphagia, Gait disturbance, Congenital contracture, Hy... OMIM:618578
Symptomatic Form Of Hemochromatosis Type 1
Weight loss, Cardiomegaly, Cardiomyopathy, Cirrhosis, Decreased serum testosterone concentration,... ORPHA:465508
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acid... ORPHA:3337
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Hypohidrosis, Maternal diabetes, Anterior pituitary hypoplasia, Short stature, Hy... ORPHA:3157
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney disease OMIM:618061
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Pauci-Immune Glomerulonephritis
Acute kidney injury, Nephrotic range proteinuria, Glomerular sclerosis, Decreased glomerular filt... ORPHA:93126
Brown-Vialetto-Van Laere Syndrome 2
Scoliosis, Aggressive behavior, Dysphagia, Ataxia, Hypokinesia, Kyphoscoliosis, Organic aciduria OMIM:614707
Nephronophthisis 11
Nephronophthisis, Growth delay, Polyuria, Hepatic fibrosis, Renal tubular atrophy, Renal corticom... OMIM:613550
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Wolfram-Like Syndrome
Male hypogonadism, Glucose intolerance, Depression, Hypothyroidism, Progressive cerebellar ataxia... ORPHA:411590
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Autoimmunity, Hepatic steatosis, Insulin-resista... ORPHA:79086
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Cryptorchidism, Gait disturbance, Nephropathy, Type I diabetes mellitus, Short sta... ORPHA:1192
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Growth delay, Polyuria, Renal tubular atrophy, Ren... OMIM:606966
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
C1Q Deficiency
Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Autoimmunity OMIM:613652
Spinocerebellar Ataxia 21
Dystonia, Gait ataxia, Aggressive behavior, Akinesia, Apathy, Limb ataxia, Ataxia, Progressive ce... OMIM:607454
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Angina pectoris, Hepatic steatosis, Skeletal muscle hypertrophy, L... ORPHA:90970
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Primary Parathyroid Hyperplasia
Parathyroid hyperplasia, Osteoporosis, Nephrocalcinosis, Chondrocalcinosis, Dysphagia, Hypercalci... ORPHA:99878
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Depression, Difficulty walking, Gait disturbance, Agorapho... ORPHA:255
Wolfram Syndrome
Dysuria, Abnormality of mesentery morphology, Male hypogonadism, Abnormality of the urinary syste... ORPHA:3463
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercalciuria, Chronic ki... OMIM:300555
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Akinesia, Dysphagia, Apathy, Decreased body weight, Hepatomeg... OMIM:608013
Combined Oxidative Phosphorylation Deficiency 1
Decreased activity of mitochondrial complex III, Cholestasis, Hepatomegaly, Hypokinesia, Decrease... OMIM:609060
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Glycosuria, Failure to thrive, Renal tubular dysfun... OMIM:227810
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome OMIM:607426
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Autoimmunity, Polycystic ovaries, Ty... ORPHA:275555
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Lethargy, Hypoketotic hypoglycemia, Chronic hepatic failure, Toe walking, Tricuspid r... ORPHA:746
Fructose Intolerance, Hereditary
Cirrhosis, Hyperphosphaturia, Hepatic steatosis, Transient aminoaciduria, Proximal tubulopathy, B... OMIM:229600
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Central hypothyroidism, Ataxia, Hypoglycemia, Postnatal growth retardation, Short statu... OMIM:616113
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Scoliosis, Delayed thelarche, Hyperinsulinemic hypoglycemia, Joint laxity, Delayed ... OMIM:616033
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria OMIM:314000
Gitelman Syndrome
Hypocalciuria, Chondrocalcinosis, Nocturia, Renal potassium wasting, Growth delay, Polyuria, Enur... OMIM:263800
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Craniosynostosis, Camptodactyly of toe, Hirsutism, Umbilical hernia, Inguinal her... OMIM:175700
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase OMIM:618400
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Increased circulating gonadotro... ORPHA:755
Hypercalcemia, Infantile, 1
Lethargy, Polyuria, Weight loss, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Nephrolithi... OMIM:143880
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Hydronephrosis, Akinesia OMIM:607598
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hyperaldosteronism, Hypercalciuria, Decreased circulating renin level, Adrenal hyperpla... OMIM:613677
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hyposthenuria, Hydroureter, Growth delay, Functional abnormality ... ORPHA:223
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Hypoglycemia, Dehydration, Methylmalonic aciduria, Dicarboxylic ac... ORPHA:289504
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Pearson Syndrome
Hydrops fetalis, Postnatal growth retardation, Pancreatic fibrosis, Dehydration, Renal insufficie... ORPHA:699
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Hypothyroidism, ST segment depression, Hypopituitarism, Hypertension, Myocardial... ORPHA:90065
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hepatic steatosis, Clitoral hype... OMIM:608594
Barth Syndrome
Gait disturbance, Growth delay, Abnormal mitochondrial morphology, Failure to thrive, Organic aci... OMIM:302060
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Low back pain, Hypophosphatemic rickets, Abnormality of the peritoneum, Hypoglyc... ORPHA:2126
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Loss of ability to walk, Blepharospasm, Unsteady gait, Falls, Short stepped shuffling g... ORPHA:240094
Diarrhea 2, With Microvillus Atrophy
Dehydration, Growth delay OMIM:251850
6Q16 Microdeletion Syndrome
Thick eyebrow, Polyphagia, Broad-based gait, Obesity ORPHA:171829
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Albuminuria, Focal segmental glomerulosclerosis, Microscopic hematuria, Macroscopic hematuria, Ch... ORPHA:567546
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Dystonia, Left ventricular hypertrophy, Ataxia OMIM:614458
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Increased facial adipose tissue, Proximal upper limb muscle hypertrophy, ... ORPHA:280365
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Autoimmunity, Recurrent urinary tract infections, Hepatomegaly, Fail... OMIM:618495
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Acquired Central Diabetes Insipidus
Diabetes insipidus, Polydipsia, Pollakisuria, Weight loss ORPHA:95626
Frontotemporal Dementia With Motor Neuron Disease
Disinhibition, Depression, Dysphagia, Apathy, Progressive cerebellar ataxia, Abnormal mitochondri... ORPHA:275872
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Polyphagia, Depression, Pseudohypoparathyroidism, Hypergonadotropic hypogonadi... ORPHA:79444
Distal Renal Tubular Acidosis
Hypocitraturia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, R... ORPHA:18
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria, Bradykinesia, Hypokinesia, Decreased activity of mitochondrial complex IV, Increa... OMIM:619063
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Lipodystrophy, Flexion cont... OMIM:615381
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... OMIM:104200
Whipple Disease
Insulin resistance, Depression, Hypothyroidism, Ataxia, Hepatomegaly, Cachexia, Splenomegaly, Pol... ORPHA:3452
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Micropenis, Decreased circ... OMIM:228300
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Growth delay, Renal salt wasting, Dehydration, Increa... OMIM:610600
Trisomy 18P
Highly arched eyebrow, Polyphagia, Bilateral cryptorchidism, Short stature, Intrauterine growth r... ORPHA:1715
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:276621
Macdermot-Winter Syndrome
Camptodactyly of finger, Low anterior hairline, Highly arched eyebrow, Hydronephrosis, Intrauteri... OMIM:247990
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, A... OMIM:619386
Luscan-Lumish Syndrome
Aggressive behavior, Polyphagia, High anterior hairline, Hirsutism, Polycystic ovaries, Anxiety, ... OMIM:616831
Placental Insufficiency
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Small for gestational age, In... ORPHA:439167
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis, Aminoaciduria OMIM:222730
Mccune-Albright Syndrome
Scoliosis, Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Incr... ORPHA:562
Arthrogryposis Multiplex Congenita 6
Hypospadias, Arthrogryposis multiplex congenita, Akinesia OMIM:619334
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Proximal Renal Tubular Acidosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, H... ORPHA:47159
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology, Aggressive behavior, Hypoglycemia OMIM:300438
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Self-mutilation, Cryptorchidism, Short neck, Polyphagia, Aggressive behavior, Generalized joint l... ORPHA:251028
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hepatic steatosis, Clitoral hype... OMIM:269700
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Increased susceptib... OMIM:253290
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Aapoaiv Amyloidosis
Renal amyloidosis, Glomerular sclerosis, Chronic kidney disease, Abnormal renal medulla morpholog... ORPHA:439232
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis, Joint swelling ORPHA:139491
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Athetosis, Abnormal circulating renin, Adrenal hyperplasia, Polydipsia, Nephr... ORPHA:369929
Gitelman Syndrome
Primary hyperaldosteronism, Nocturia, Delayed puberty, Type II diabetes mellitus, Parathyroid ade... ORPHA:358
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Difficulty walking, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakn... ORPHA:86812
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Type II diabetes mellitus, Glomerulopathy ORPHA:225
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Nephrocalcinosis, Hematuria, Recurrent urinary tract infec... OMIM:248250
Arthrogryposis Multiplex Congenita 5
Scoliosis, Dystonia, Arthrogryposis multiplex congenita, Short neck, Akinesia, Camptodactyly, Fle... OMIM:618947
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Dehydration, Pancreatitis, Splenomegaly, Renal insufficiency ORPHA:79312
Erdheim-Chester Disease
Dysuria, Renal insufficiency, Osteolysis, Weight loss, Increased bone mineral density, Ataxia, Hy... ORPHA:35687
Man1B1-Cdg
Joint hypermobility, Abnormal position of hair whorl, Sparse eyebrow, Polyphagia, Long eyelashes,... ORPHA:397941
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Chronic kidney disease, Proteinuria OMIM:123550
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hypothyroidism, Hepatomegaly, Left ventricular hypertrophy, Cardio... OMIM:617713
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Myopathy, Congenital, Compton-North
Akinesia, Camptodactyly, Small for gestational age, Joint contracture of the hand OMIM:612540
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Distal renal tubular acidosis, Hypercalciuria, Dehydration, Nephrocalcinosis OMIM:602722
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Cryptorchidism, Renal insufficiency, Rhizomelia, Camptodactyly, Failure to thrive in i... OMIM:611209
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Dysphagia... OMIM:613327
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
7Q11.23 Microduplication Syndrome
Cryptorchidism, Joint hypermobility, Craniosynostosis, Hemivertebrae, Hyperactivity, Congenital d... ORPHA:96121
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormality of medullary p... ORPHA:2260
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Glycogen Storage Disease Xi
Renal insufficiency, Myoglobinuria OMIM:612933
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic steatosis, Hypoglycemia, Hepatic failure OMIM:617872
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Scoliosis, Hypohidrosis, Central hypothyroidism, Emotional lability, Delayed puberty, Obesity, Ag... ORPHA:293987
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Dehydration, Tubulointerstitial nephritis, Methylmalonic aciduria, Pancreatitis, St... OMIM:251000
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Scoliosis, Hypokinesia OMIM:618184
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Microvesicular hepatic steatosis, Glutaric aciduria, 3-Methylglutaric aciduria, P... OMIM:610198
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:248370
Chylous Ascites
Pancreatitis ORPHA:1160
Necrotizing Enterocolitis
Peritonitis, Lethargy, Abnormal heart morphology, Hypotension, Small for gestational age, Shock, ... ORPHA:391673
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:601165
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... ORPHA:403
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Joint hypermobility, Dysphagia, Kyphosis, Flexion contracture, Spinal rigidity OMIM:618323
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Growth delay, Hypoketotic hypoglycemia, Dicarboxylic ac... OMIM:231530
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Postnatal growth retardation, Renal sodium wasting, Dehydration,... ORPHA:556030
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis,... OMIM:167800
Early-Onset Schizophrenia
Low self esteem, Polyphagia, Depression, Abnormal emotion/affect behavior, Impairment in personal... ORPHA:96369
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Hypercalciuria... ORPHA:251274
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Pseudohypoparathyroidism, Low urinary cyclic AMP response to PTH administratio... ORPHA:79443
Retinitis Pigmentosa 71
Pancreatitis OMIM:616394
Tyrosinemia, Type I
Enlarged kidney, Glomerular sclerosis, Hypoglycemia, Failure to thrive, Renal Fanconi syndrome, R... OMIM:276700
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Craniosynostosis, Polyphagia, Enlarged kidney, Proteinuria, Re... ORPHA:251004
Helix Syndrome
Hypohidrosis, Hypocalciuria, Polyuria, Xerostomia, Nephrolithiasis, Renal insufficiency, Polydips... OMIM:617671
Familial Cold Urticaria
Polydipsia, Hyperhidrosis, Arthritis ORPHA:47045
German Syndrome
Cryptorchidism, Ambiguous genitalia, Arthrogryposis multiplex congenita, Camptodactyly of finger,... ORPHA:2077
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Hyposthenuria, Polydipsi... ORPHA:95513
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Corticobasal Syndrome
Dystonia, Akinesia, Gait disturbance, Bradykinesia, Limb dystonia ORPHA:454887
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Hypoglycemia, Decreased glomerular filtratio... OMIM:232200
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Dehydration, Pancreatitis ORPHA:27
Craniopharyngioma
Polyphagia, Proportionate short stature, Enlarged pituitary gland, Growth delay, Pituitary hypoth... ORPHA:54595
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Intrauterine growth retardation, Flexion contracture, Akinesia OMIM:225790
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Fasting hyperinsulinemia, Hyperinsulinemic hyp... ORPHA:35878
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Flexion contracture, Severe short stature, Short neck OMIM:168400
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Bradycardia, Left ventricular hypertrophy OMIM:614654
Bangstad Syndrome
Goiter, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal insuffici... OMIM:210740
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, Renal Fa... ORPHA:411629
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys, Diabetes mellitus, ... OMIM:613845
Central Retinal Vein Occlusion
Pigmentary retinopathy, Papilledema, Cystoid macular edema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Image Syndrome
Cryptorchidism, Adrenal hypoplasia, Hydronephrosis, Intrauterine growth retardation, Hypospadias,... ORPHA:85173