Gene Summary

Name:
FRY like transcription coactivator
Synonyms:
2310004H21Rik,  2510002A14Rik,  9030227G01Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin pigmentation Fryltm1a(KOMP)Wtsi HET Early adult 7.18×10-05
decreased circulating calcium level Fryltm1b(KOMP)Wtsi HET   Early adult 2.85×10-05
increased mean corpuscular hemoglobin Fryltm1b(KOMP)Wtsi HET Early adult 4.42×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Eye Morphology

Images Slit Lamp

2 Images

Legacy Phenotype Associated Images

View all 128 images

Human diseases caused by Fryl 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 Fryl by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Cafe-Au-Lait Spots, Multiple
Multiple cafe-au-lait spots OMIM:114030
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney, Obesity OMIM:615987
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigmented skin patches, Hype... ORPHA:241
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Growth delay, Polyuria, Renal tubul... OMIM:256100
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Growth delay, Polyuria, Renal tubular atrophy, Ren... OMIM:606966
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis OMIM:614196
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst, Obesity OMIM:605231
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Bardet-Biedl Syndrome 16
Renal insufficiency, Recurrent otitis media, Renal dysplasia, Renal cyst, Renal agenesis, Abnorma... OMIM:615993
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Postnatal growth retardation, Hydronephrosis, Failure to thrive, In... OMIM:617093
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Patent ductus arteriosus, Polycystic kidney dysplasia, Renal i... OMIM:615382
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Neonatal death, Absence of renal cort... OMIM:263200
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Tubulointerstitial fibrosis OMIM:263000
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria OMIM:161900
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Gout, Renal corticomedullary cysts, Tubulo... OMIM:603860
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morphology OMIM:602114
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Placental Insufficiency
Maternal hypertension, Preeclampsia, Eclampsia, Abnormal placenta morphology, Small placenta, Spo... ORPHA:439167
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Multiple cafe-au-lait spots ORPHA:1336
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Macdermot-Winter Syndrome
Intrauterine growth retardation, Hydronephrosis OMIM:247990
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Nephronophthisis 15
Nephronophthisis, Obesity OMIM:614845
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Glycosu... OMIM:231680
Senior-Loken Syndrome
Nephronophthisis, Chronic kidney disease, Short stature, Stage 5 chronic kidney disease ORPHA:3156
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts OMIM:617668
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria OMIM:618913
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis OMIM:162000
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Joubert Syndrome 4
Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology OMIM:609583
Adamantinoma
Hypercalcemia ORPHA:55881
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney, Obesity OMIM:615982
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Adrenocortical Hypofunction, Chronic Primary Congenital
Hyperpigmentation of the skin OMIM:103230
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:614817
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Fa... OMIM:191800
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Short stature, Renal cyst OMIM:613390
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Hepatomegaly, Chronic kidne... ORPHA:85445
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Gout, Renal cyst, Chronic kidney disease, Short ... OMIM:617056
Image Syndrome
Intrauterine growth retardation, Hypospadias, Hydronephrosis ORPHA:85173
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Abnormal renal corticomedullary differentiation, Renal dysplasia, S... OMIM:616733
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis, Nephropathy ORPHA:3033
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Increased urinary potassium, Renal salt wa... OMIM:602522
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Glycogen Storage Disease Iv
Failure to thrive, Hepatosplenomegaly, Tubulointerstitial fibrosis OMIM:232500
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Cat-Eye Syndrome
Abnormal localization of kidney, Hydronephrosis, Short stature, Intrauterine growth retardation, ... ORPHA:195
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis, Short stature, Failure to thrive in infancy ORPHA:85285
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Stillbirth, Enlarged kidney OMIM:615415
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Alpha-Heavy Chain Disease
Hypocalcemia, Anemia, Splenomegaly ORPHA:100025
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Renal cyst, Failure to thrive, Splenomegaly, Intrauterine growth retardation, Renal... OMIM:614866
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Obesity OMIM:616629
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Freckling, Hyperpigmentation of the skin OMIM:194400
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Neonatal death, Renal cyst OMIM:228940
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Short stature, Nephropathy ORPHA:474
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Decreased body weight, Vesicoureteral reflux, Hydronephrosis, Short stature OMIM:618265
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Harrod Syndrome
Hypospadias, Renal cortical microcysts, Failure to thrive OMIM:601095
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Nephronophthisis 11
Nephronophthisis, Growth delay, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tu... OMIM:613550
C Syndrome
Renal cortical cysts, Patent ductus arteriosus, Hepatomegaly, Failure to thrive, Short stature OMIM:211750
Bardet-Biedl Syndrome 17
Renal cyst, Stage 5 chronic kidney disease, Obesity OMIM:615994
Say Syndrome
Proximal renal tubular acidosis, Short stature, Cystic renal dysplasia OMIM:181180
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Postnatal growth ... ORPHA:93110
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Hepatomegaly, Renal dysplasia, Renal cyst, Stage 5 chronic kidney ... OMIM:266920
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis OMIM:278300
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... OMIM:236730
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly OMIM:612526
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Verheij Syndrome
Renal hypoplasia, Growth delay, Renal cyst, Short stature, Renal agenesis OMIM:615583
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Obesity, Delayed puberty, Macroscopic ... ORPHA:251004
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Hepatomegaly, Renal cortico... OMIM:243910
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Mental Retardation, Autosomal Dominant 42
Hydronephrosis, Failure to thrive OMIM:616973
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Ureteral agenesis OMIM:236500
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst, Failure to thrive OMIM:614883
Joubert Syndrome 5
Nephronophthisis, Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kid... OMIM:610188
Joubert Syndrome 20
Renal cyst OMIM:614970
Cutaneous Mastocytoma
Abnormality of skin pigmentation, Hypermelanotic macule ORPHA:79455
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Stage 5 chronic kidney disease, Splenomegaly OMIM:616217
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst OMIM:617874
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... OMIM:104200
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Nephropathy, Renal cyst OMIM:611773
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormality of medullary p... ORPHA:2260
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... OMIM:203780
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Renal cortical cysts, Rhizomelic arm shortening, Renal dysplasia, Rhizomelic... ORPHA:397715
Rhyns Syndrome
Nephronophthisis, Renal insufficiency, Chronic kidney disease, Short stature OMIM:602152
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Gout, ... OMIM:232200
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Diaphanospondylodysostosis
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney, Disproportionate ... OMIM:608022
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis OMIM:614175
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Renal tubular atrophy, Renal corticomedullary cysts, Tubu... OMIM:613159
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral re... ORPHA:2704
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Birt-Hogg-Dube Syndrome
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Mosaic Trisomy 1
Penile hypospadias, Micropenis, Renal cortical cysts, Renal cyst ORPHA:1692
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Igg4-Related Kidney Disease
Hematuria, Acute kidney injury, Pericarditis, Interstitial pneumonitis, Urinary bladder inflammat... ORPHA:449395
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Gout, ... OMIM:232220
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Hepatomegaly, Chronic kidney disease, Short stature, Splenomegaly, Obesity OMIM:615630
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts, Short stature ORPHA:1166
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Vesicoureteral reflu... OMIM:130650
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Tubulointerstitial fibrosis, Enlarged kidney, Thyroiditis, G... ORPHA:79259
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Recurrent pancreatitis, Renal cortical adenoma, Nephroblastoma, P... OMIM:145001
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Patent ductus arteriosus, Aminoaciduria, Hepatomegaly, Hydronephrosis, Failure to th... OMIM:214100
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Malar rash, Nephritis, Arthritis OMIM:152700
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis OMIM:183802
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Postnatal growth retardation, Failure to thrive in infancy, Hydronephrosis, Left vent... OMIM:611209
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Recurrent urinary tract infections, Hydronephrosis, Failure to thrive, Osteom... OMIM:619218
Tetraploidy
Intrauterine growth retardation, Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Ret... ORPHA:79397
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Focal segmental glomerulosclerosis, Enlarged kidney, Patent ductus arteriosu... OMIM:617303
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Hydronephrosis, Polycystic kidney dysplasia, Cardiomegaly, Long-ch... OMIM:608836
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Renal atrophy OMIM:618578
Coach Syndrome 1
Nephronophthisis, Growth delay, Unilateral renal agenesis, Hepatomegaly, Renal cyst, Stage 5 chro... OMIM:216360
Diabetes Insipidus, Neurohypophyseal Type
Polyuria, Hydronephrosis OMIM:304900
Axial Osteomalacia
Renal cyst OMIM:109130
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Nephritis, Stage 5 chronic kidney disease OMIM:609057
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts ORPHA:2924
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock OMIM:601706
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Nephrotic syndrom... ORPHA:255249
Polysyndactyly With Cardiac Malformation
Renal cyst, Stillbirth OMIM:263630
Tyrosinemia, Type I
Enlarged kidney, Glomerular sclerosis, Hepatomegaly, Splenomegaly, Failure to thrive, Renal Fanco... OMIM:276700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Micropenis, Renal cyst, Hydronephrosis OMIM:615287
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Patent ductus arteriosus, Hepatomegaly, Renal dysplasia, Ureteral atresia, Polyc... OMIM:208540
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Renal dysplasia, Nephritis, Pyelonephritis, Unilateral renal atrophy OMIM:314300
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis, Short stature, Intrauterine ... ORPHA:1745
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Trichohepatoenteric Syndrome 1
Hepatomegaly, Small for gestational age, Galactosuria, Short stature, Failure to thrive, Intraute... OMIM:222470
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicouret... ORPHA:107
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Glomerulonephritis, Stage 5 chronic kidney disease, Short stature, ... OMIM:614376
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Hepatomegaly, Renal cyst, Renal insuff... OMIM:614922
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis OMIM:206200
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Pancreatitis, Parathormone-independent increased renal tubular calcium reabsorptio... OMIM:600740
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic kidney dysplasia, Stage 5 chr... OMIM:613095
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Renal agenesis, Recurrent otitis media, Hydronephrosis OMIM:618494
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Uveitis, Reversible renal failure, Glomerulonephritis, Anterior uveitis, Acute tubulo... OMIM:607665
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Oligohydramnios ORPHA:397590
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Senior-Loken Syndrome 8
Nephronophthisis OMIM:616307
Gapo Syndrome
Hepatomegaly, Growth delay, Tubulointerstitial fibrosis OMIM:230740
Spondyloenchondrodysplasia With Immune Dysregulation
Tubulointerstitial fibrosis, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, P... OMIM:607944
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts OMIM:219730
Prune Belly Syndrome
Urogenital sinus anomaly, Hydroureter, Recurrent urinary tract infections, Patent ductus arterios... ORPHA:2970
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, A... OMIM:259720
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Micropenis, Pneumonia, Multicystic kidney dysplasia OMIM:300209
Prune Belly Syndrome
Hydroureter, Urethral valve, Patent ductus arteriosus, Hydronephrosis, Congenital posterior ureth... OMIM:100100
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Complement Factor I Deficiency
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Recurrent urinary tract infections, ... OMIM:610984
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Aapoaiv Amyloidosis
Renal amyloidosis, Glomerular sclerosis, Chronic kidney disease, Abnormal renal medulla morpholog... ORPHA:439232
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Dyschondrosteosis And Nephritis
Mesomelic short stature, Nephritis OMIM:127350
Odontochondrodysplasia 1
Mesomelic short stature, Nephronophthisis, Polycystic kidney dysplasia, Short stature OMIM:184260
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia OMIM:600666
Recombinant Chromosome 8 Syndrome
Growth delay, Hydronephrosis, Patent ductus arteriosus, Postnatal growth retardation OMIM:179613
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Campomelia, Cumming Type
Polycystic kidney dysplasia, Short stature OMIM:211890
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia, Short stature, Micropenis OMIM:613091
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Growth delay, Hydronephrosis, Failure to thrive ORPHA:488613
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Anemia OMIM:244460
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Anemia OMIM:175500
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Recurrent aspiration pneumonia, Small for gestational age, Abnor... ORPHA:79243
Hardikar Syndrome
Hydroureter, Growth delay, Recurrent urinary tract infections, Patent ductus arteriosus, Hepatome... OMIM:612726
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Plasminogen Deficiency, Type I
Conjunctivitis, Periodontitis, Nephrolithiasis, Nephritis OMIM:217090
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation ORPHA:2222
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Multicystic kidney dysplasia, Abnormality of the urethra, ... ORPHA:2973
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Nephrolithiasis, Postnatal growth retardation, Hydroureter OMIM:617219
Toluene Embryopathy
Hydronephrosis, Short stature, Abnormal localization of kidney ORPHA:1920
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
H Syndrome
Bronchiectasis, Enlarged kidney, Delayed puberty, Short stature, Chronic rhinitis, Psoriasiform d... ORPHA:168569
Meckel Syndrome, Type 2
Intrauterine growth retardation, Renal cyst OMIM:603194
Netherton Syndrome
Skin rash, Erythroderma, Aminoaciduria, Ectopic kidney, Hydronephrosis, Short stature, Eczema ORPHA:634
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Postnatal growth retardation ORPHA:531151
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Intrauterine growth retardation, Growth delay, Hydronephrosis, Hypoplasia of penis ORPHA:2083
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Microscopic hematuria, Glomerular basement membrane lamel... OMIM:301050
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Hy... ORPHA:1834
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Transketolase Deficiency
Seborrheic dermatitis, Proportionate short stature, Increased level of ribose in urine, Uveitis, ... ORPHA:488618
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hepatosplenomegaly, Polycystic kidney dysplasia, Failure to thrive OMIM:608776
X-Linked Agammaglobulinemia
Thrombocytopenia, Hypocalcemia, Neutropenia, Anemia ORPHA:47
Retinal Venous Beading
Nephritis OMIM:180080
Williams-Beuren Region Duplication Syndrome
Chronic otitis media, Unilateral renal agenesis, Patent ductus arteriosus, Hydronephrosis, Short ... OMIM:609757
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Short stature, Multicystic kidney dysplasia ORPHA:2031
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254534
Joubert Syndrome 6
Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Nephrotic syndrome, Short stature, Hypoplasia of penis, Obesity ORPHA:110
Joubert Syndrome 14
Growth delay, Renal cyst OMIM:614424
Joubert Syndrome 2
Abnormal renal physiology, Nephronophthisis, Renal cyst, Failure to thrive OMIM:608091
Kaposiform Lymphangiomatosis
Splenomegaly, Multiple renal cysts, Hepatosplenomegaly, Enlarged kidney ORPHA:464329
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Patent ductus arteriosus OMIM:300048
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia OMIM:617866
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Renovascular hypertension, ... ORPHA:49041
Mody
Overweight, Nephropathy, Glycosuria, Renal cyst, Intrauterine growth retardation, Large for gesta... ORPHA:552
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis OMIM:616449
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnor... ORPHA:848
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:259700
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Lymphopenia, Hypoproteinemia ORPHA:90363
Atresia Of Urethra
Megacystis, Hydroureter, Recurrent urinary tract infections, Renal dysplasia, Vesicoureteral refl... ORPHA:105
Mckusick-Kaufman Syndrome
Glandular hypospadias, Urogenital sinus anomaly, Patent ductus arteriosus, Multicystic kidney dys... ORPHA:2473
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Distal Tetrasomy 15Q
Horseshoe kidney, Patent ductus arteriosus, Nephroblastoma, Polycystic kidney dysplasia, Hydronep... ORPHA:314588
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Hypospadias, Hydronephrosis OMIM:220210
Trisomy 13
Multiple renal cysts, Patent ductus arteriosus, Abnormality of the ureter, Hydronephrosis, Intrau... ORPHA:3378
Igg4-Related Aortitis
Hydronephrosis, Weight loss, Increased inflammatory response ORPHA:449400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Polycystic kid... ORPHA:2237
Harrod Syndrome
Intrauterine growth retardation, Hypospadias, Failure to thrive, Multicystic kidney dysplasia ORPHA:2115
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hyp... ORPHA:31824
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Nephroblastoma, Enlarged kidney ORPHA:276280
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Hydronephrosis, Aminoaciduria OMIM:617913
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Hyperpigmentation of the skin, Generalized hypopigmentation, Generalize... ORPHA:158681
Wolfram Syndrome 1
Neurogenic bladder, Growth delay, Hydronephrosis, Hydroureter OMIM:222300
Pediatric Systemic Lupus Erythematosus
Skin rash, Hematuria, Abnormality of the urinary system, Dark urine, Discoid lupus rash, Arthriti... ORPHA:93552
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Patent ductus arteriosus, Renal dysplasia, Vesicoureteral reflux, Hy... ORPHA:391641
Femoral-Facial Syndrome
Long penis, Abnormal localization of kidney, Polycystic kidney dysplasia, Short stature, Renal hy... ORPHA:1988
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Patent ductus arteriosus, Hypercalciuria, Renal cyst, Ureteral stenosis, Large for gestational ag... OMIM:615398
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Postnatal growth retardation, Severe intrauterine ... ORPHA:508
Trisomy 17P
Urethral valve, Growth delay, Patent ductus arteriosus, Urethral stenosis, Hydronephrosis, Polycy... ORPHA:261290
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Growth delay, Recurrent urinary tract infections, Oliguria,... ORPHA:731
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Timothy Syndrome
Hypocalcemia OMIM:601005
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Urinary bladder inflammation, Renal dysplasia, Hydronephrosis, Urethral stricture, Rec... ORPHA:79403
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Hydronephrosis, Short stature, Recurrent pneumonia OMIM:619179
Zellweger Syndrome
Multicystic kidney dysplasia, Hepatomegaly, Hydronephrosis, Failure to thrive, Short stature, Hyp... ORPHA:912
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Failure to thrive, Intrauterine growth retardation OMIM:311900
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Alstrom Syndrome
Chronic active hepatitis, Otitis media, Hepatomegaly, Truncal obesity, Tubulointerstitial nephrit... OMIM:203800
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Hemolytic anemia, Stomatocytosis, Hyperuricemia, Ani... OMIM:102730
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
22Q11.2 Duplication Syndrome
Urethral stenosis, Growth delay, Displacement of the urethral meatus, Hydronephrosis ORPHA:1727
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal agenesis, Horseshoe kidney, Bifid ureter, Decreased numbers of nephrons, Renal hypoplasia, ... OMIM:617641
Diabetic Embryopathy
Renal hypoplasia/aplasia, Ureteral duplication, Micropenis, Hydronephrosis ORPHA:1926
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Patent ductus arteriosus, Heparan sulfate excretion in urine, Conjunctivitis, Ne... ORPHA:505248
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation OMIM:268040
Meckel Syndrome, Type 4
Intrauterine growth retardation, Renal cyst OMIM:611134
3-Methylglutaconic Aciduria Type 7
Growth delay, Renal cyst, Renal insufficiency, Nephrocalcinosis, 3-Methylglutaconic aciduria ORPHA:445038
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Hydronephrosis, Cardiomegaly, Intrauterine growth retardation, Hypospa... OMIM:616897
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Short stature, Hypospadias OMIM:614091
Vacterl/Vater Association
Renal agenesis, Multicystic kidney dysplasia, Abnormality of the urethra, Ectopic kidney, Hydrone... ORPHA:887
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... OMIM:137920
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia OMIM:607361
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Short stature, Intrauterine growth retardation, Ren... ORPHA:1297
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Short stature, Renal insufficiency, Renal hypoplasia/aplasia, Urete... ORPHA:261265
Mesomelia-Synostoses Syndrome
Hydronephrosis, Short stature ORPHA:2496
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Tubulointerstitial nephritis, Stage 5 chronic... ORPHA:228302
Johanson-Blizzard Syndrome
Hydronephrosis, Short stature, Hypoplasia of penis, Intrauterine growth retardation, Hypospadias,... ORPHA:2315
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Ocular albinism, Hypopigmentation of the skin OMIM:601220
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Intrauterine growth retardation, Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Enlarged kidney, Multicystic kidney dysplasia, Nephroblastoma, L... ORPHA:500095
Webb-Dattani Syndrome
Neurogenic bladder, Vesicoureteral reflux, Hydronephrosis OMIM:615926
Intellectual Disability, Buenos-Aires Type
Hydronephrosis, Short stature ORPHA:3079
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Micropenis, Short stature, Hydronephrosis ORPHA:364028
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Hyperpigmentation of the skin OMIM:133750
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Transient hypophosphatemia, Hyperphosphatemia, Anemia OMIM:127000
Trisomy 1Q
Congenital megaureter, Hydronephrosis, Patent ductus arteriosus, Multicystic kidney dysplasia ORPHA:261344
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Postnatal growth retardation, Hypercalciuria, Intrauterine growth retardation, Hypospadias, Micro... OMIM:614732
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Growth delay, Duplicated collecting system, Hydronephrosis, Intrauterine growth reta... ORPHA:541423
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Renal cyst, Short stature, Renal insufficiency, Nephritis, Proteinuria OMIM:208500
Meckel Syndrome, Type 6
Renal cyst OMIM:612284
Marden-Walker Syndrome
Renal agenesis, Hydroureter, Abnormal penis morphology, Growth delay, Abnormality of the urinary ... ORPHA:2461
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Patent ductus arteriosus, Vesicoureteral reflux, Hydronephrosis, Short stature,... OMIM:618460
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Severe postnatal growth... OMIM:266810
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hepatomegaly, Vesicoureteral reflux, Hydronephrosis, Small for gest... OMIM:301056
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hepatomegaly, Tubuloi... ORPHA:157
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Hypoalbuminemia ORPHA:90362
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Growth delay, Patent ductus arteriosus, Hepatomegaly, Hydronephrosis, Failure to thrive, Splenome... OMIM:612541
Developmental Delay With Or Without Dysmorphic Facies And Autism
Microphallus, Renal hypoplasia, Patent ductus arteriosus, Vesicoureteral reflux, Renal cyst, Hydr... OMIM:618454
Baller-Gerold Syndrome
Growth delay, Failure to thrive in infancy, Abnormal localization of kidney, Abnormality of the u... ORPHA:1225
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Renal cyst, Hyperoxaluria OMIM:601539
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Kleefstra Syndrome
Chronic otitis media, Vesicoureteral reflux, Renal cyst, Hydronephrosis, Short stature, Hypospadi... ORPHA:261494
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Growth delay, Hepatomegaly, Splenomegaly, Hydronephrosis, Short stature, Fail... OMIM:608779
Suleiman-El-Hattab Syndrome
Hydronephrosis, Failure to thrive OMIM:618950
Micro Syndrome
Abnormal localization of kidney, Delayed puberty, Hydronephrosis, Short stature, Hypoplasia of pe... ORPHA:2510
Noonan Syndrome 4
Ureteral duplication, Large for gestational age, Hydronephrosis, Short stature OMIM:610733
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Nephrotic syndrome, Malar rash, Splenomegaly, Nephritis OMIM:603909
Chondrodysplasia Punctata 2, X-Linked Dominant
Erythroderma, Failure to thrive, Hydronephrosis, Postnatal growth retardation OMIM:302960
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated ... ORPHA:94093
Genitopalatocardiac Syndrome
Intrauterine growth retardation, Hypospadias, Multicystic kidney dysplasia ORPHA:2075
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Splenomegaly OMIM:618440
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563