Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
secretin receptor
Synonyms:
6530402O03Rik

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 Sctr 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Senior-Loken Syndrome 1
Polydipsia, Nephronophthisis, Anemia, Stage 5 chronic kidney disease, Polyuria OMIM:266900
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Senior-Loken Syndrome 4
Polydipsia, Nephronophthisis, Anemia, Stage 5 chronic kidney disease, Polyuria OMIM:606996
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Polydipsia, Hyperglycemia, Diabetes ... OMIM:222100
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... OMIM:616892
Nephronophthisis-Like Nephropathy 2
Polydipsia, Bronchiectasis, Elevated circulating creatinine concentration, Stage 5 chronic kidney... OMIM:619468
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome OMIM:614650
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:610725
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... OMIM:256370
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... OMIM:618594
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... OMIM:603965
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Nephronophthisis 1
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:256100
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D... OMIM:615244
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Dysphagia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, T... OMIM:254900
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:614131
Renal Glucosuria
Polyphagia, Polydipsia, Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:615573
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Adrenal insufficiency, Hypoglycemia, Nephrotic syndrome, Stag... OMIM:617575
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... OMIM:613237
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome OMIM:249660
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di... OMIM:600995
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Nephronophthisis 4
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:606966
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Polydipsia, Pelvic kidney, Glomerulome... ORPHA:93101
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperlipidemia, Anemia, Stage 5 chronic kidney disease, Hypoa... OMIM:603278
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Glomerular... OMIM:256300
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler... OMIM:617730
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:618349
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Hypokalemia, Polydipsia, Central diabetes insipidus, Polyuria OMIM:304900
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions OMIM:618830
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... OMIM:616963
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Nephronophthisis 3
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:604387
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Galloway-Mowat Syndrome 10
Congenital hypothyroidism, Podocyte foot process effacement, Stage 5 chronic kidney disease, Diff... OMIM:619609
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Senior-Loken Syndrome 3
Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enure... OMIM:606995
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... OMIM:614196
Nephronophthisis 11
Renal tubular atrophy, Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chroni... OMIM:613550
Nephrotic Syndrome, Type 22
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... OMIM:619155
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Focal segmental glomerulosclerosis, Eczema, Minimal change glomerulonephri... OMIM:618348
Cystinosis
Renal tubular dysfunction, Hypokalemia, Polydipsia, Hypophosphatemia, Nephrogenic diabetes insipi... ORPHA:213
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Ochoa Syndrome
Hydronephrosis, Polydipsia, Recurrent urinary tract infections, Urinary incontinence, Vesicourete... ORPHA:2704
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth... OMIM:619113
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Gait ataxia, Shyness OMIM:618221
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Neutropenia, Renal cyst, Anemia, Gout, Hyperuricemia, Nephrop... OMIM:617056
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Chronic kidney disease, Anemia, Hyperuricemia, Hypomagnesemia, Proteinu... OMIM:613845
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypokalemia, Decreased circulating renin level, Polydips... ORPHA:320
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Galloway-Mowat Syndrome 5
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Hypomagnesemia 3, Renal
Polydipsia, Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolit... OMIM:248250
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Polydipsia, Abnor... ORPHA:2260
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... OMIM:301006
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... OMIM:615862
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Joubert Syndrome 4
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency OMIM:609583
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphosphaturia, Calcinosis, Ami... OMIM:239200
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypokalemia, Decreased circulating renin level, Polydipsia, Hyperaldosteroni... OMIM:613677
East Syndrome
Renal salt wasting, Renal sodium wasting, Polydipsia, Hypokalemia, Salt craving, Hypomagnesemia, ... ORPHA:199343
Central Diabetes Insipidus
Diabetes insipidus, Hyponatremia, Nocturia, Polydipsia ORPHA:178029
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Diabetes insipidus, Hypernatremia, Polydipsia, Megacystis, Polyuria OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Polydipsia, Megacystis, Nephrogenic diabetes insipidus, Polyuria OMIM:125800
Bardet-Biedl Syndrome 9
Hyperglycemia, Polydipsia, Renal insufficiency, Polyphagia OMIM:615986
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Polydipsia, Hypokalemia, Salt craving, Hypomagnesemia, ... OMIM:612780
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Streak ovary, Increased circulating gonad... ORPHA:347
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Nephrogenic Diabetes Insipidus
Hypernatremia, Polydipsia, Enuresis nocturna, Functional abnormality of the bladder, Nephrogenic ... ORPHA:223
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub... OMIM:602522
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease ORPHA:3156
Teratoma, Pineal
Polyuria, Polydipsia OMIM:273120
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:136680
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria OMIM:143880
Acquired Central Diabetes Insipidus
Pollakisuria, Diabetes insipidus, Polydipsia ORPHA:95626
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia, Hypopituitarism ORPHA:140976
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Gout, Hyperuricemia, Nephropathy, Renal insufficiency OMIM:162000
Lysine Malabsorption Syndrome
Hyperlysinuria, Renal tubular lysine transport defect OMIM:247950
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Abnormal renal medulla morphology,... ORPHA:439232
Bardet-Biedl Syndrome 17
Polydipsia, Renal cyst, Stage 5 chronic kidney disease, Hypogonadism, Micropenis, Polyuria OMIM:615994
Senior-Boichis Syndrome
Renal hypoplasia, Polydipsia, Thickening of the tubular basement membrane, Abnormal renal insters... ORPHA:84081
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Proteinuria, Nephropathy ORPHA:419
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalcemic tetan... ORPHA:411634
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Dysphagia, Focal segmental glome... ORPHA:63
Fechtner syndrome
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... OMIM:153640
Helix Syndrome
Hypokalemia, Polydipsia, Nephrolithiasis, Hypocalciuria, Hyperparathyroidism, Hypermagnesemia, Po... OMIM:617671
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia, Nephritis, Renal insufficiency ORPHA:3327
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... OMIM:300971
Nephrotic Syndrome, Type 7
Hemolytic anemia, Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, ... OMIM:615008
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated circulating cre... ORPHA:567544
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypokalemia, Polydipsia, Abnormal circulating renin, Glucocortocoid-insensit... ORPHA:251274
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... OMIM:617006
Coenzyme Q10 Deficiency, Primary, 1
Nephrotic syndrome, Elevated circulating creatine kinase concentration, Glomerular sclerosis, Ane... OMIM:607426
Nephronophthisis 15
Nephronophthisis OMIM:614845
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Hypoglycemia, Hyperinsulinemia OMIM:606528
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Polydipsia, Nephrocalcinosis, Hypokalemia, Proximal tubulopathy... ORPHA:18
Saccharopinuria
Saccharopinuria, Citrullinuria, Hyperlysinuria, Histidinuria, Elevated circulating sacchoropine c... OMIM:268700
Infantile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Polydipsia, Hypokalemia, Ab... ORPHA:411629
Senior-Loken Syndrome 9
Hypogonadism, Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease OMIM:616629
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Nephrolithiasis, Aspartic aciduria OMIM:222730
Denys-Drash Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropat... OMIM:194080
Gitelman Syndrome
Polydipsia, Hypokalemia, Salt craving, Delayed puberty, Hypomagnesemia, Hypocalciuria, Renal pota... OMIM:263800
Cystinuria
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Abnormality of endocrine p... ORPHA:93111
Nephronophthisis 13
Renal hypoplasia, Mild proteinuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:614377
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Hyp... OMIM:613090
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Pneumonia, Decreased circulating IgA level, Reduced red cell adenos... OMIM:102700
Panhypophysitis
Hyponatremia, Increased circulating prolactin concentration, Polydipsia, Decreased circulating co... ORPHA:95513
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Hypokalemia, Decreased circulating renin level, Polydipsia, Increased urinar... ORPHA:231580
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hypokalemia, Polydipsia, Abnormal circulating renin, Nephrolithiasis, Hypera... ORPHA:369929
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Bartter Syndrome, Type 3
Renal salt wasting, Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassiu... OMIM:607364
Hyperparathyroidism-Jaw Tumor Syndrome
Elevated circulating parathyroid hormone level, Hypercalcemia, Dysphagia, Thyroid carcinoma, Poly... ORPHA:99880
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal dysplasia, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Anemia, Nephropathy OMIM:266920
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, ... OMIM:242900
Gitelman Syndrome
Tubulointerstitial nephritis, Renal potassium wasting, Type I diabetes mellitus, Enuresis, Parath... ORPHA:358
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Decreased specific pneumococcal antibody level, Mesangial ... OMIM:613496
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He... OMIM:152700
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Hypercalcemia, Dysphagia, Thyroid carcinoma, Para... ORPHA:143
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Polydipsia, Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting ... ORPHA:47159
Rhyns Syndrome
Nephronophthisis, Pituitary hypothyroidism, Anterior hypopituitarism, Chronic kidney disease, Dec... OMIM:602152
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... OMIM:616818
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit... ORPHA:182050
Hyperprolinemia, Type Ii
Prolinuria, Hyperprolinemia, Hydroxyprolinuria, Hyperglycinuria OMIM:239510
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Long penis, Hypokalemia, Polydipsia, Ne... ORPHA:769
Cystinosis, Nephropathic
Hyponatremia, Dysphagia, Renal Fanconi syndrome, Generalized aminoaciduria, Polydipsia, Nephrolit... OMIM:219800
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyperplasia, Polydip... OMIM:241200
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria OMIM:619428
Dibasic Amino Aciduria I
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria OMIM:222690
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... ORPHA:93126
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Neutropenia, Hypoglycemia, Hyperlipidemia, Decreased glomerul... OMIM:232220
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Glomerulonephriti... OMIM:104200
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Diabetes mellitus, Type I diabetes mellitus OMIM:560000
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... OMIM:203780
Galloway-Mowat Syndrome 3
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Hypoalbuminemia, Diffus... OMIM:617729
Pierson Syndrome
Hypoproteinemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis,... OMIM:609049
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... OMIM:616733
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Aminoaciduria, Abnormality of the thyroid gl... ORPHA:417
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Diabetes mellitus, Membr... OMIM:608709
Tyrosinemia, Type I
Renal Fanconi syndrome, Hypoglycemia, Nephrocalcinosis, Hypertyrosinemia, Glomerular sclerosis, E... OMIM:276700
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Chronic kidney d... OMIM:615630
Nephronophthisis 19
Nephronophthisis, Stage 5 chronic kidney disease, Splenomegaly OMIM:616217
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Anterior uveitis, Panuve... OMIM:607665
Wolfram Syndrome
Diabetes insipidus, Polydipsia, Abnormality of the urinary system, Dysuria, Anemia, Recurrent uri... ORPHA:3463
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Thrombocytosis, Increased circulating interleukin 6, Asplenia, Coombs-positive ... OMIM:614034
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Decreased glomerular filtration... OMIM:232200
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Fa... ORPHA:2298
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Hypercalcemia, Paraganglioma of head and neck, Extraadrenal pheochromoc... ORPHA:276621
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Xanthinuria, Type I
Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria OMIM:278300
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Abnormality of the urinary system, Diabetic ketoacidosis, Maturity-onset diabe... ORPHA:99886
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyper... OMIM:601678
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... OMIM:617609
5-Oxoprolinase Deficiency
Prolinuria, Enterocolitis, Increased level of L-pyroglutamic acid in urine, Calcium oxalate nephr... OMIM:260005
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, Leuko... OMIM:617303
Thyrocerebroretinal Syndrome
Thrombocytopenia, Nephritis, Goiter OMIM:274240
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:242600
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus ORPHA:3199
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia, Histidinuria, Impaired histidine renal tubular absorption ORPHA:2158
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine... ORPHA:84090
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Pericarditis, Glomerular sclerosis, Stage 5 chronic kidney disease, Anemia, Rec... OMIM:619487
Tiglic Acidemia
Aminoaciduria OMIM:275190
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Dent Disease 2
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... OMIM:300555
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chlo... OMIM:229100
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Focal segmental glomerulosclerosis, Neutropenia, Minim... ORPHA:1830
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Camptodactyly 1
Increased urinary taurine OMIM:114200
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Hypercalcemia, Paraganglioma of head and neck, Extraadrenal pheochromoc... ORPHA:29072
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Increased urinary taurine OMIM:237400
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Nephritis, Stage 5 chronic kidney disease OMIM:609057
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Lacticaciduria, Elevated circulating creati... OMIM:619386
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Carnosinemia
Carnosinuria OMIM:212200
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Galactosemia Iii
Aminoaciduria, Hypergalactosemia, Galactosuria, Splenomegaly OMIM:230350
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Aminoaciduria, Increased seru... OMIM:603358
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Hypoparathyroidism, Nephrotic syndrome, Nephritis, Stag... OMIM:301050
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Pneumonia, Normochromic anemia, Elevated circulating creatinine concentration,... ORPHA:247691
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Cystathioninuria
Nephrolithiasis, Cystathioninuria, Cystathioninemia ORPHA:212
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney dis... OMIM:613159
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Immunodeficiency 8
Hyperactivity OMIM:615401
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Hematuria, Glomerulonephritis OMIM:314000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612926
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Polydipsia ORPHA:30925
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Hypokalemia, Polydipsia, Abnormal circulating renin, Secretory adrenocortica... ORPHA:403
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Hypoalbuminemia, Diffuse mesangial sclero... OMIM:251300
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Erdheim-Chester Disease
Hydronephrosis, Diabetes insipidus, Polydipsia, Hypogonadotropic hypogonadism, Dysuria, Anemia, O... ORPHA:35687
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Polydipsia, Abnormality of the hypothalamus-pituitary axis... ORPHA:3157
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hematuria, Decreased glomerular... OMIM:232240
C3 Glomerulopathy
Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... ORPHA:329918
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Decreased glomerular filtration rate, Hematuria, Pyeloneph... ORPHA:730
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency OMIM:204690
Pediatric-Onset Graves Disease
Increased circulating T4 level, Episcleritis, Polydipsia, Polyphagia, Neutropenia in presence of ... ORPHA:525731
Whipple Disease
Myocarditis, Hyponatremia, Pericarditis, Infectious encephalitis, Polydipsia, Myositis, Insulin r... ORPHA:3452
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Hydroxykynureninuria
Aminoaciduria, Renal tubular dysfunction OMIM:236800
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Pericarditis, Monoclonal elevation of circulating IgA, Nephrotic synd... ORPHA:91139
Hyperprolinemia, Type I
Prolinuria, Hyperprolinemia, Hydroxyprolinuria, Hyperglycinuria OMIM:239500
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyp... ORPHA:567546
Toxic Epidermal Necrolysis
Dysphagia, Neutropenia, Polydipsia, Dysuria, Anemia, Pancreatitis, Abnormality of the urethra, Th... ORPHA:537
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Cholangitis, Polydipsia, Stage 5 chronic kidney disease, Splenomegaly, Recurrent ur... ORPHA:731
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Microangiopathic hemolytic anemia, Abnormality of the urinary system, Leukope... ORPHA:93552
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Renal dysplasia, Decreased circulating antibody level, Hypocalcemia, Hypomagnesemia... OMIM:618183
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Coach Syndrome 1
Nephronophthisis, Multiple small medullary renal cysts, Renal cyst, Stage 5 chronic kidney diseas... OMIM:216360
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Hypoglycemia, Nephrocalcinosis, Glycosuria, Diabetes mellitus, A... OMIM:616026
Hypotonia-Cystinuria Syndrome
Cystinuria, Nephrolithiasis, Polyphagia ORPHA:163690
Familial Cold Urticaria
Arthritis, Polydipsia, Conjunctivitis ORPHA:47045
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Phenylketonuria
Aminoaciduria ORPHA:716
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... OMIM:610984
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Homocarnosinosis
Carnosinuria OMIM:236130
Retinal Venous Beading
Nephritis, Neutropenia OMIM:180080
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria OMIM:612075
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria, Ketonuria OMIM:618857
Joubert Syndrome 6
Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i... OMIM:600740
Combined Oxidative Phosphorylation Deficiency 24
Elevated circulating creatine kinase concentration, Focal segmental glomerulosclerosis OMIM:616239
2P21 Microdeletion Syndrome
Hypoglycemia, Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia ORPHA:163693
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hypoargininemia, Episodic ammonia intoxication, Hyperammonemia ORPHA:147
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Recurrent aspiration pneumonia, Abnormality of medullary pyramid morpho... ORPHA:79243
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Macular Dystrophy, Retinal, 1, North Carolina Type
Generalized aminoaciduria OMIM:136550
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... OMIM:618913
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly ORPHA:79238
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Renal dysplasia, Nephritis, Pyelonephritis OMIM:314300
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Alaninuria, Diabetes mellitus OMIM:202900
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur... OMIM:134600
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Fatigable weakness, Inability to walk, Generalized dyst... ORPHA:255
Alstrom Syndrome
Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, ... OMIM:203800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia, Absence of re... OMIM:263200
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re... OMIM:613388
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Long penis, Insulin-resistant diabetes mellitus, Diabetic ket... OMIM:262190
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Fasting hypoglycemia, Nephrocalcinosis, Renal tubul... ORPHA:2088
Senior-Loken Syndrome 8
Nephronophthisis OMIM:616307
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Aminoaciduria, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Epidermolysis Bullosa Simplex With Pyloric Atresia
Hydronephrosis, Aplasia of the bladder, Elevated circulating creatine kinase concentration, Renal... ORPHA:158684
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... ORPHA:228302
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Glutathione Synthetase Deficiency
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia OMIM:266130
Galactosemia I
Hypergalactosemia, Aminoaciduria, Increased level of galactitol in urine, Increased level of gala... OMIM:230400
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Myositis, Exercise-induced myoglobinuria, Dark uri... ORPHA:99845
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... OMIM:223900
Juvenile Huntington Disease
Dystonia, Dementia, Chorea, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, B... ORPHA:248111
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Poor eye contact OMIM:300983
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Decreased urine output, Increased circulating interleukin 6,... ORPHA:542323
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Aminoaciduria, Splenomegaly, Hyperammonemia ORPHA:664
Osteopetrosis, Autosomal Recessive 5
Anemia, Hyperbilirubinemia, Decreased osteoclast count, Splenomegaly, Absence of renal corticomed... OMIM:259720
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Mental deterioration, Ataxia OMIM:615924
Tyrosinemia Type 1
Generalized aminoaciduria, Splenomegaly ORPHA:882
Hsd10 Disease
Abnormal social behavior, Gait disturbance, Ataxia, Choreoathetosis ORPHA:391417
Melas
Focal segmental glomerulosclerosis, Hypoparathyroidism, Type II diabetes mellitus, Proximal tubul... ORPHA:550
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Central hypothyroidism, Infectious encephalitis, Polydipsia, Hyperlipidemia, Polyph... ORPHA:293987
Hypotonia-Cystinuria Syndrome
Polyphagia, Nephrolithiasis, Cystinuria, Hypocalcemia, Neonatal hypoglycemia, Hypergonadotropic h... OMIM:606407
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Attention deficit hyperactivity disorder, Poor eye contact ORPHA:444002
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Brain-Lung-Thyroid Syndrome
Hypospadias, Hypoparathyroidism, Abnormal drinking behavior, Congenital hypothyroidism, Megacysti... ORPHA:209905
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... OMIM:300009
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Ketonuria ORPHA:2089
Saccharopinuria
Hypercystinemia, Cystinuria, Hyperammonemia, Citrullinuria, Abnormality of circulating enzyme lev... ORPHA:3124
Wilson Disease
Hemolytic anemia, Hyperphosphaturia, Dysphagia, Renal tubular dysfunction, Hypoparathyroidism, Os... OMIM:277900
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Myocarditis, Septic arthritis, Diabetes mellitus, Hemolytic anemia, Abnormality of... ORPHA:544482
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Dibasicaminoaciduria, Hyperlysinemia, Hyperammonemia OMIM:238750
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pericarditis, Pancreatitis, Oliguria, Abnormal renal tubule morphology... ORPHA:188
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Central hypothyroidism, Anemia, Hypochromic anemia, Oliguria, Lymphocytosis, Acute ... ORPHA:514
Arima Syndrome
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:243910
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... ORPHA:2442
Dyschondrosteosis And Nephritis
Nephritis OMIM:127350
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Tubulointerstitial nephritis, Methylmalonic aciduria, Leukopenia, Stage 5... OMIM:251000
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Carnosinuria OMIM:309930
Plasminogen Deficiency, Type I
Periodontitis, Nephritis, Nephrolithiasis, Conjunctivitis OMIM:217090
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Microscopic Polyangiitis
Sinusitis, Pericarditis, Episcleritis, Peritonitis, Hematuria, Arthritis, Pancreatitis, Increased... ORPHA:727
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Aminoaciduria, Anemia OMIM:614946
Joubert Syndrome 5
Renal cortical cysts, Nephronophthisis, Impaired renal concentrating ability, Stage 5 chronic kid... OMIM:610188
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Renal dysplasia, Bifid ureter, Decreased numb... OMIM:617641
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria OMIM:615605
Rowley-Rosenberg Syndrome
Aminoaciduria, Recurrent pneumonia OMIM:268500
Joubert Syndrome 2
Abnormal renal physiology, Renal cyst, Nephronophthisis OMIM:608091
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Aminoaciduria OMIM:609560
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Lysinuric Protein Intolerance
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Decreased res... ORPHA:470
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Anuria, Elevated circulating c... OMIM:235400
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Erythroder... ORPHA:540
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Leukocytosis, Decreased urine output, Tubulointerstitial nephritis, Increased circu... ORPHA:340
Childhood Disintegrative Disorder
Dementia, Social and occupational deterioration, Mental deterioration, Motor deterioration, Impai... ORPHA:168782
Cholera
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypoglycemia, Hypokalemia, ... ORPHA:173
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia OMIM:613370
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Dicarboxylic aciduria, Elevated creatine kinase a... ORPHA:159
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thiamine-responsive megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopen... OMIM:249270
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Dysphagia, Calcinosis, Hydronephrosis, Aminoaciduria OMIM:617913
Igg4-Related Pachymeningitis
Sinusitis, Dysphagia, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, P... ORPHA:449427
Alagille Syndrome 1
Renal hypoplasia, Focal segmental glomerulosclerosis, Renal tubular acidosis, Renal dysplasia, Mu... OMIM:118450
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Eczema, Tubulointerstitial nephritis, Neutropenia, Neutropenia in pre... ORPHA:37042
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Renal Tubular Dysgenesis
Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep... ORPHA:85450
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Eosinophilia, Elevated circulating C-reacti... ORPHA:449395
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerul... OMIM:614748
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... OMIM:614376
Cranioectodermal Dysplasia 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:614099
Progressive Supranuclear Palsy
Dystonia, Dementia, Cognitive impairment, Falls, Bradykinesia, Abnormal synaptic transmission, Un... ORPHA:683
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Ataxia, Abnormal social behavior, Memory impairment ORPHA:1020
Birk-Landau-Perez Syndrome
Hyperkalemia, Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal insufficiency OMIM:617595
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Leukocytosis, Hemoglobinuria, Unconjugated hyperbilirubinemia, Schistocytosis, Hypo... ORPHA:90038
Degcags Syndrome
Hypospadias, Choking episodes, Hepatosplenomegaly, Pancytopenia, Chronic kidney disease, Oral-pha... OMIM:619488
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Hypoglycemia, Hyperglycemia, Hyperuricemia, Hyperammonemia, Oral av... ORPHA:134
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Decreased plasma free carnitine, Tubulointerstitial nephritis, Myoglobinu... ORPHA:157
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Hypoglycemia, Proximal tu... OMIM:231680
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Increased renal tubular phosphate reabsorption, Calcinosis, Nephrocalcinosis, Decreased renal tub... OMIM:211900
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Enlarged pituitary gland, Polydipsia, Hypogonadism... ORPHA:91351
Colchicine Poisoning
Myocarditis, Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Oliguria,... ORPHA:31824
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Hypoglycemia, Renal sodium wasting, Hypokalemia, Increas... ORPHA:3337
Microsporidiosis
Brain abscess, Sinusitis, Myocarditis, Cholangitis, Hepatitis, Abnormality of the urinary system ... ORPHA:2552
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Infectious encephali... ORPHA:139402
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Lassa Fever
Dysphagia, Increased circulating IgM level, Oliguria, Conjunctivitis ORPHA:99824
Dermotrichic Syndrome
Aminoaciduria, Anemia ORPHA:99688
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness OMIM:618010
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Aminoaciduria, Proteinuria OMIM:603585
Hereditary Orotic Aciduria
Abnormality of the ureter, Oroticaciduria, Anemia, Orotic acid crystalluria, Splenomegaly, Aminoa... ORPHA:30
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Elevated urinary N,N-dimethylglycine level, E... OMIM:605850
Netherton Syndrome
Eczema, Hydronephrosis, Erythroderma, Decreased circulating antibody level, Increased circulating... ORPHA:634
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Recurrent sk... ORPHA:33001
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Dysphagia, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuri... ORPHA:183
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... OMIM:227810
Diffuse Cutaneous Systemic Sclerosis
Dysphagia, Renal insufficiency, Arthritis, Oliguria ORPHA:220393
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Short Rib-Polydactyly Syndrome
Hypospadias, Nephronophthisis, Urogenital sinus anomaly, Polycystic kidney dysplasia, Multiple gl... ORPHA:1505
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity ORPHA:101039
Feingold Syndrome Type 1
Horseshoe kidney, Hydronephrosis, Renal dysplasia, Nephritis, Vesicoureteral reflux, Renal insuff... ORPHA:391641
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus OMIM:618856
Lujo Hemorrhagic Fever
Myocarditis, Leukocytosis, Dysphagia, Leukopenia, Rhinitis, Fulminant hepatitis, Microscopic hema... ORPHA:319213
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chronic kidney disease, Arthritis, Proteinuria,... ORPHA:2614
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Nephritis, Renal cyst, Conjugated hyperbilirubinemia, Chronic kidney disease, Proteinuria, Renal ... OMIM:208500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Decreased plasma free carnitine, Tubulointerstitial nephritis, Myoglobinu... ORPHA:228308
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Hand-Foot-Genital Syndrome
Hypospadias, Chordee, Pyelonephritis, Micropenis, Ureteropelvic junction obstruction, Vesicourete... OMIM:140000
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Shyness, Waddling gait, Difficulty walking ORPHA:280763
Lamb-Shaffer Syndrome
Abnormal social behavior, Hyperactivity, Ataxia ORPHA:530983
Donohue Syndrome
Fasting hypoglycemia, Long penis, Hyperglycemia, Pancreatic islet-cell hyperplasia, Postprandial ... OMIM:246200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Anemia, Glycosuria, Aminoac... OMIM:220110
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysphagia, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate... ORPHA:488627
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Impaired social interactions, Ataxia, Progressive language deterioration OMIM:610042
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts OMIM:219730
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Anemia, Glycosuria, Aminoac... ORPHA:436271
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Listeriosis
Brain abscess, Myocarditis, Septic arthritis, Granulomatosis, Conjunctivitis, Liver abscess, Peri... ORPHA:533
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls ORPHA:2382
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Pyelonephritis, Duplication of renal pelvis, Recurrent urinary tract infect... ORPHA:2036
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Hyperglycemia OMIM:175700
Neuromuscular Oculoauditory Syndrome
Elevated circulating creatine kinase concentration, Multiple renal cysts, Reduced renal corticome... OMIM:618733
Sepsis In Premature Infants
Leukocytosis, Increased circulating interleukin 6, Neutropenia, Reversible renal failure, Anemia,... ORPHA:90051
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinosis, Decreased cir... OMIM:616084
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Glucose intolerance, Elevated hemoglobin A1c, Hypertriglyceri... OMIM:619127
Zygomycosis
Brain abscess, Sinusitis, Myocarditis, Splenic abscess, Neutropenia, Pericarditis, Infectious enc... ORPHA:73263
Duplication Of Urethra
Hypospadias, Bladder duplication, Chordee, Hypertrophy of the urinary bladder, Anuria, Dysuria, C... ORPHA:237
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Hyperglycemia, Glycosuria, Reduced pancreatic be... ORPHA:99885
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hyperhomocystinemia, Methylmalonic acidemia, Cystathioninuria, Methylmalonic aciduria, Cystathion... OMIM:277380
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular dysfunction, Decreased urine output, Hematuria, Gastritis, Renal tubu... ORPHA:31826
Landau-Kleffner Syndrome
Steppage gait, Social and occupational deterioration, Hyperactivity, Attention deficit hyperactiv... ORPHA:98818
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Cystathioninuria, Methylmalonic a... OMIM:277400
Macrophage Activation Syndrome
Increased circulating interleukin 6, Neutropenia, Hepatitis, Anemia, Splenomegaly, Increased infl... ORPHA:158061
Argininosuccinic Aciduria
Oroticaciduria, Hyperglutaminemia, Hypoargininemia, Hyperammonemia, Aminoaciduria ORPHA:23
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Hepatitis, Anemia, Postprandial hyperglycemia, Abnormal renal tubu... ORPHA:440713
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Anemia, Thrombocytopenia, Aminoaciduria, Ketonuria OMIM:614520
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Conjugated hyperbilirubinemia, ... OMIM:210550
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
Cornelia De Lange Syndrome 1
Hypospadias, Renal hypoplasia, Thrombocytopenia, Pneumonia, Renal cyst, Otitis media, Reduced ren... OMIM:122470
Zttk Syndrome
Horseshoe kidney, Polyuria, Unilateral renal agenesis OMIM:617140
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Peritonitis, Anuria, Megacystis, Fetal megacystis, Pyelonephritis OMIM:619351
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Acute pancreatitis, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia, Choreoathetosis OMIM:612716
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Leukopenia, Aplasia/... ORPHA:227990
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Scalp-Ear-Nipple Syndrome
Renal hypoplasia, Renal agenesis, Abnormality of the endocrine system, Pyelonephritis, Renal insu... OMIM:181270
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Macrocytic anemia, Anterior pituitary dysgenesis, Autoimmune hypopara... ORPHA:227982
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
D-Glyceric Aciduria
Aminoaciduria, Nonketotic hyperglycinemia OMIM:220120
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypogonadism, Aminoaciduria OMIM:273400
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Poor eye contact, Hyperactivity, Ataxia, Mental deterioration, Progre... ORPHA:163681
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Hyperornithinemia ORPHA:414
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Myoclonic-Astatic Epilepsy
Lack of peer relationships, Hyperactivity, Ataxia, Impaired social interactions, Unsteady gait, A... ORPHA:1942
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Cognitive impairment, Hyperactivity, Ataxia, Gait ataxia, ... ORPHA:363400
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Sialidosis Type 1
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... ORPHA:812
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Chorea ORPHA:88616
Metachromatic Leukodystrophy, Adult Form
Dystonia, Progressive psychomotor deterioration, Dementia, Chorea, Progressive gait ataxia, Abnor... ORPHA:309271
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Morm Syndrome
Hyperactivity ORPHA:75858
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Maternal diabetes, Insulin-resistant diabetes mellitus, ... OMIM:604367
Fragile X Syndrome
Hyperactivity, Poor eye contact OMIM:300624
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... ORPHA:330015
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Elevated circulating creatine kinase concentration, Aminoaciduria, Methylmalonic acidemia, Methyl... OMIM:612073
Sjogren Syndrome
Keratoconjunctivitis sicca, Rheumatoid arthritis, Tubulointerstitial nephritis OMIM:270150
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Normochro... ORPHA:91500
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Hyperalaninemia OMIM:614582
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Impaired pain sensation, Chorea, Hyperactivity, Inability to walk, Gait ataxia ORPHA:500180
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Lacticaciduria, Increased level of L-gl... ORPHA:3008
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Hyperphosphaturia, Renal phosphate wasting, Renal hypophosphatemi... ORPHA:289176
Rasmussen Subacute Encephalitis
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Attention deficit hyperacti... ORPHA:1929
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Dystonia, Progressive psychomotor deterioration, Progressive gait ataxia ORPHA:309263
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Chorea, Hyperactivity, Ataxia ORPHA:382
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Aminoaciduria, Tubulointerstitial nephritis OMIM:124000
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Aminoaciduria, Elevated circulating long chain fatty acid concentrat... OMIM:214110
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hypoglycemia, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Throm... OMIM:251880
Leprechaunism
Central hypothyroidism, Fasting hypoglycemia, Hypokalemia, Long penis, Nephrocalcinosis, Insulin ... ORPHA:508
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Abnormality of iron homeostasis, Hyperglycemia, Hypogonadotropic hypogonadism... ORPHA:465508
Yellow Fever
Leukocytosis, Increased circulating interleukin 6, Elevated circulating creatine kinase concentra... ORPHA:99829
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Urinary rete... ORPHA:79102
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Progressive gait ataxia, Tip-toe gait, Abnormal social behavior, Gait ataxia ORPHA:309256
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Neutropenia, Peritonitis, Hyperglycemia, Abnormal glucose homeostasis... ORPHA:391673
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Autosomal Recessive Cutis Laxa Type 1
Pyelonephritis, Recurrent urinary tract infections, Urethral diverticulum, Multiple bladder diver... ORPHA:90349
Hardikar Syndrome
Cholangitis, Hydronephrosis, Decreased serum insulin-like growth factor 1, Impaired growth-hormon... OMIM:301068
Lysinuric Protein Intolerance
Oroticaciduria, Leukopenia, Anemia, Stage 5 chronic kidney disease, Pancreatitis, Hyperammonemia,... OMIM:222700
Fructose Intolerance, Hereditary
Hyperphosphaturia, Hypoglycemia, Transient aminoaciduria, Proximal tubulopathy, Hypophosphatemia,... OMIM:229600
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... OMIM:618858
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles ORPHA:166108
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney ORPHA:459061
Mental Retardation, X-Linked 77