Gene Summary

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

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
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
abnormal skin pigmentation Fryltm1a(KOMP)Wtsi HET Early adult 7.29×10-05

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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.

DSS Histology

Images

8 Images

X-ray

XRay Images Forepaw

8 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Eye Morphology

Images Slit Lamp

2 Images

Ear epidermis immunophenotyping

Images

12 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
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, 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)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hypermelanotic macule, Spotty... ORPHA:241
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Bardet-Biedl Syndrome 10
Obesity, Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Growth delay, Tubulointerstitial fibrosis, Tubular bas... OMIM:256100
Nephronophthisis 4
Stage 5 chronic kidney disease, Polyuria, Growth delay, Tubulointerstitial fibrosis, Renal tubula... OMIM:606966
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614196
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Recurrent otitis media, Abnormality of the kidney, Obesity, Renal dys... OMIM:615993
Bardet-Biedl Syndrome 6
Renal cyst, Obesity, Hypospadias OMIM:605231
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Vitiligo, Progressive hyperpigmentation, Multiple lentigines, Hyperme... OMIM:145250
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Pancreatic cysts, Splenomegaly, Hepatomegaly, Polycystic kidney dysp... OMIM:263200
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Nephronophthisis 16
Enlarged kidney, Patent ductus arteriosus, Polycystic kidney dysplasia, Renal insufficiency, Neph... OMIM:615382
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrauterine growth retardation, Hydronephrosis, Duplicated collecting system, Failure to thrive,... OMIM:617093
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:613944
Complement Component C1R/C1S Deficiency
Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis, Failure to thrive OMIM:263000
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Renal Failure, Progressive, With Hypertension
Proteinuria, Nephritis, Microscopic hematuria, Renal insufficiency, Stage 5 chronic kidney disease OMIM:161900
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Gout, Enuresis, Tubulointerstitial nephritis, Renal tubular... OMIM:603860
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hypochromia, Anemia OMIM:205950
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Irregular hyperpigmentation ORPHA:1336
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Macdermot-Winter Syndrome
Hydronephrosis, Intrauterine growth retardation OMIM:247990
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Hepatic peripo... OMIM:231680
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:161950
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Tubulointerstitial fibrosis, Aminoaciduria, Stage 5 chronic kidney disease OMIM:618913
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts OMIM:617668
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Proteinuria, Mesangial hypercell... ORPHA:63
Renal Hypoplasia
Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality of the ureter, Decreased... ORPHA:93101
Bardet-Biedl Syndrome 4
Obesity, Renal cyst, Abnormality of the kidney OMIM:615982
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Hepatomegaly OMIM:614870
Adamantinoma
Hypercalcemia ORPHA:55881
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Multiple renal cysts ORPHA:3033
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... ORPHA:85445
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Placental Insufficiency
Abnormal placenta morphology, Eclampsia, Maternal hypertension, Small placenta, Preeclampsia, Abn... ORPHA:439167
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Proteinuria, Renal hypo... OMIM:611555
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy, Renal insufficiency ORPHA:1909
Nephronophthisis 18
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened glomerular basement membr... OMIM:615862
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hydronephrosis, Failure to thrive, Vesicoureteral reflux, Recurrent urinary tract infections, Neu... OMIM:191800
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Intrauterine growth retardation, Chronic kidney disease, Short stature, Nephropathy, ... OMIM:617056
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Fanconi Anemia, Complementation Group O
Short stature, Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis, Failure to thrive, Hepatosplenomegaly OMIM:232500
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Pancreatic cysts, Decrea... ORPHA:730
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Coach Syndrome 3
Renal interstitial inflammation, Stage 5 chronic kidney disease, Renal tubular atrophy, Renal ins... OMIM:619113
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Reduced renal corticomedullary differentiation, Decreased glomerular filtration rate, Global glom... OMIM:602522
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Image Syndrome
Hydronephrosis, Intrauterine growth retardation, Hypospadias ORPHA:85173
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:266900
Vesicoureteral Reflux 3
Hydronephrosis, Vesicoureteral reflux, Hydroureter OMIM:613674
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Short stature, Vesicoureteral reflux, Failure to thrive in infancy ORPHA:85285
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Cat-Eye Syndrome
Intrauterine growth retardation, Hydronephrosis, Abnormal localization of kidney, Short stature, ... ORPHA:195
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Decreased glomerular filtration rate, Noctur... ORPHA:85450
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Senior-Loken Syndrome
Short stature, Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease ORPHA:3156
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia, Stillbirth OMIM:615415
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Renal tubular atrophy, Nephritis, Nephropathy, Renal insuff... OMIM:162000
Nephronophthisis 15
Nephronophthisis, Obesity OMIM:614845
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
Mpdu1-Cdg
Eczema, Renal cortical cysts ORPHA:79323
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Renal cortical microcysts, Intrauterine growth retardation, Hepatosplenomegaly, Splen... OMIM:614866
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Albinism, Piebaldism, Partial albinism OMIM:300700
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Partial albinism, Irregular hyperpigmentation, ... ORPHA:998
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Hyperpigmentation of the skin, Freckling OMIM:194400
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Hepatomegaly, Abnormality of the kidney OMIM:613730
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Renal hypoplasia, Renal cyst OMIM:228940
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Joubert Syndrome 4
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency OMIM:609583
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries ORPHA:90301
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Hematuria, Proteinuria, Tubulointerstitial nephritis, Stage 5 chron... OMIM:614817
Senior-Loken Syndrome 4
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:606996
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Short stature, Decreased body weight, Vesicoureteral reflux OMIM:618265
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Small for gestational age, Abnormal renal corticomedullary diffe... OMIM:616733
Harrod Syndrome
Failure to thrive, Renal cortical microcysts, Hypospadias OMIM:601095
Say Syndrome
Short stature, Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
C Syndrome
Renal cortical cysts, Patent ductus arteriosus, Hepatomegaly, Short stature, Failure to thrive OMIM:211750
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Arima Syndrome
Occipital meningocele, Stage 5 chronic kidney disease, Hepatomegaly, Polycystic kidney dysplasia,... OMIM:243910
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Nephronophthisis 11
Stage 5 chronic kidney disease, Polyuria, Growth delay, Tubular basement membrane disintegration,... OMIM:613550
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Proteinuria, Obesity, Macroscopic hematuria, Short stature, Membranoproliferativ... ORPHA:251004
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Enlarged kidney, Urethral atresia OMIM:314390
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts ORPHA:2924
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hypertriglyceridemia OMIM:612526
Urofacial Syndrome 1
Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infections, Hydroureter, ... OMIM:236730
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Stage 5 chronic kidney disease, Impaired renal concentrat... OMIM:610188
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Nephronophthisis 13
Stage 5 chronic kidney disease, Pancreatic cysts, Renal hypoplasia, Hepatic cysts, Nephronophthis... OMIM:614377
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Proteinuria, Mesangial hypercellularity, Steroid-resistant neph... OMIM:619201
Verheij Syndrome
Renal agenesis, Renal cyst, Renal hypoplasia, Growth delay, Short stature OMIM:615583
Peroxisome Biogenesis Disorder 11A (Zellweger)
Failure to thrive, Renal cyst, Multiple renal cysts OMIM:614883
Joubert Syndrome 35
Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections, Renal fibrosis OMIM:618161
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Senior-Loken Syndrome 9
Nephronophthisis, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis OMIM:616629
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Failure to thrive OMIM:616973
Nephronophthisis-Like Nephropathy 1
Stage 5 chronic kidney disease, Pancreatic cysts, Chronic pancreatitis, Tubular basement membrane... OMIM:613159
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Enuresis, Polyuria, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Joubert Syndrome 20
Renal cyst OMIM:614970
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Rhizomelic arm shortening, Rhizomelic leg shortening, Renal dysplasia, Fail... ORPHA:397715
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Nephropathy, Hematuria, Renal insufficiency OMIM:611773
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232200
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia, Neonatal death, Stillbirth OMIM:236500
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal cyst, Stage 5 chronic kidney disease, Hepatomegaly, Renal dysplasia, Short stature, Nephrop... OMIM:266920
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Hydronephrosis, Myelomeningocele, Ureteral atresia OMIM:183802
Jeune Syndrome
Short stature, Nephronophthisis, Nephropathy, Renal insufficiency ORPHA:474
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Joubert Syndrome 15
Micropenis, Nephronophthisis OMIM:614464
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Thickened glomerular basement membrane, Nephritis, Re... OMIM:203780
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Nephrocalcinosis, Nephrolithiasis, Polycystic ovaries, Proteinuria, Periodontiti... ORPHA:79259
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232220
Diaphanospondylodysostosis
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Intrauterine growth retardation, Dispr... OMIM:608022
Ochoa Syndrome
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal insufficiency, Ur... ORPHA:2704
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Coach Syndrome 1
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple small medullary r... OMIM:216360
Beckwith-Wiedemann Syndrome
Enlarged kidney, Renal cortical cysts, Nephrocalcinosis, Nephrolithiasis, Pancreatic hyperplasia,... OMIM:130650
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Short stature, Vesicoureteral reflux, Renal hypoplasia/aplasia, Multiple renal cysts ORPHA:1166
Mosaic Trisomy 1
Micropenis, Penile hypospadias, Renal cortical cysts, Renal cyst ORPHA:1692
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Hereditary Xanthinuria
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Increased u... ORPHA:3467
Igg4-Related Kidney Disease
Proteinuria, Hydronephrosis, Prostatitis, Arteritis, Membranous nephropathy, Renal interstitial i... ORPHA:449395
Fechtner syndrome
Stage 5 chronic kidney disease, Nephritis, Hematuria, Proteinuria OMIM:153640
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Patent ductus arteriosus, Pancreatic cysts, Hepatomegaly, Poly... OMIM:208540
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Bronchiectasis, Rheumatoid arthritis, Eczema, Failure to thrive, K... ORPHA:79128
Birt-Hogg-Dube Syndrome
Renal cyst, Renal neoplasm, Renal cell carcinoma OMIM:135150
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Renal cyst, Nephrotic syndrome, Intrauterine growth retardation, Tubuloin... ORPHA:255249
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Stillbirth OMIM:263630
Systemic Lupus Erythematosus
Lupus nephritis, Malar rash, Nephritis, Pericarditis, Arthritis OMIM:152700
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Hypomelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Hyperm... ORPHA:79397
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Recurrent pneumonia, Nephrotic syndrome, Patent ductus arteriosus, Proteinuria, ... OMIM:617303
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Congenital Disorder Of Glycosylation, Type Iig
Intrauterine growth retardation, Failure to thrive in infancy, Rhizomelia, Hydronephrosis, Renal ... OMIM:611209
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Renal atrophy OMIM:618578
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Renal insufficiency OMIM:610205
Nephronophthisis 19
Nephronophthisis, Stage 5 chronic kidney disease, Splenomegaly, Hepatomegaly OMIM:616217
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Stage 5 chronic kidney disease, Nephritis OMIM:609057
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Recurrent pancreatitis, Renal cortical adenoma, Polycystic kidney dysplasia, Pap... OMIM:145001
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Osteomyelitis, Failure to thrive, Recurrent urinary tract infections, Neurogenic ... OMIM:619218
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Axial Osteomalacia
Renal cyst OMIM:109130
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles OMIM:601706
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Decreased numbers of neph... ORPHA:2260
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Tetraploidy
Hydronephrosis, Intrauterine growth retardation, Renal hypoplasia/aplasia ORPHA:3305
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Polyuria OMIM:304900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Stage 5 chr... OMIM:613095
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Patent ductus arteriosus, Hydronephrosis, Hepatomegaly, Aminoaciduria,... OMIM:214100
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Splenomegaly, He... OMIM:276700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Hydronephrosis, Renal cyst, Renal dysplasia OMIM:615287
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Pyelonephritis, Nephritis, Renal dysplasia OMIM:314300
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Familial Renal Glucosuria
Glycosuria, Renal tubular dysfunction, Moderate postnatal growth retardation, Recurrent urinary t... ORPHA:69076
Trichohepatoenteric Syndrome 1
Renal cortical microcysts, Intrauterine growth retardation, Small for gestational age, Hepatomega... OMIM:222470
Distal Trisomy 6P
Intrauterine growth retardation, Hydronephrosis, Renal hypoplasia, Short stature, Abnormality of ... ORPHA:1745
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hydronephrosis, Hepatomegaly, Polycystic kidney dysplasia,... OMIM:608836
Campomelia, Cumming Type
Short stature, Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Hepatomegaly, Renal dysplasia, Renal insuff... OMIM:614922
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Pneumonia, Tubulointerstitial fibrosis, Rheumatoid arthritis, Short statu... OMIM:607944
Hypocalciuric Hypercalcemia, Familial, Type Iii
Parathormone-independent increased renal tubular calcium reabsorption, Multiple small medullary r... OMIM:600740
Rhyns Syndrome
Short stature, Nephronophthisis, Chronic kidney disease, Renal insufficiency OMIM:602152
Bor Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Ureteropelvic junction ob... ORPHA:107
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Obesity, Pneumonia, Micropenis OMIM:300209
Silver-Russell Syndrome Due To A Point Mutation
Oligohydramnios, Small placenta ORPHA:397590
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Prune Belly Syndrome
Abnormality of the ureter, Patent ductus arteriosus, Renal insufficiency, Multicystic kidney dysp... ORPHA:2970
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Hydronephrosis, Recurrent otitis media, Renal hypoplasia OMIM:618494
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Anterior uveitis, Panuveitis, Re... OMIM:607665
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Gapo Syndrome
Tubulointerstitial fibrosis, Hepatomegaly, Growth delay OMIM:230740
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Meckel Syndrome, Type 2
Renal cyst, Meningocele, Intrauterine growth retardation OMIM:603194
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Anemia, Hypocalcemia ORPHA:53
Joubert Syndrome 37
Micropenis, Hydronephrosis, Obesity, Hepatomegaly, Short stature OMIM:619185
Dyschondrosteosis And Nephritis
Mesomelic short stature, Nephritis OMIM:127350
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Chronic kidney disease, Splenomegaly, Hepatomegaly, Short stature, Nephronophthisis OMIM:615630
Recombinant Chromosome 8 Syndrome
Postnatal growth retardation, Hydronephrosis, Growth delay, Patent ductus arteriosus OMIM:179613
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Hepatomegaly OMIM:614862
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis, Failure to thrive, Growth delay ORPHA:488613
Prune Belly Syndrome
Patent ductus arteriosus, Hydronephrosis, Congenital posterior urethral valve, Hydroureter, Ureth... OMIM:100100
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Short stature OMIM:613091
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Senior-Boichis Syndrome
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Abnormal renal insterstitial ... ORPHA:84081
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Patent ductus arteriosus, Hydronephrosis, Short stature, Chronic otiti... OMIM:609757
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency OMIM:219730
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Bardet-Biedl Syndrome 17
Renal cyst, Micropenis, Obesity, Polyuria, Stage 5 chronic kidney disease OMIM:615994
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly OMIM:200995
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Senior-Loken Syndrome 8
Nephronophthisis, Hepatic cysts, Pancreatic cysts OMIM:616307
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation ORPHA:2222
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria, Hepatomegaly, Growth delay, Nephritis OMIM:614034
Plasminogen Deficiency, Type I
Periodontitis, Nephritis, Nephrolithiasis, Conjunctivitis OMIM:217090
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Dark urine, Postnatal growth r... ORPHA:79303
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Growth delay, Intrauterine growth retardation, Hypoplasia of penis ORPHA:2083
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Postnatal growth retardation, Vesicoureteral reflux, Nephrolithiasis, Hydroureter OMIM:617219
H Syndrome
Enlarged kidney, Hepatosplenomegaly, Chronic rhinitis, Micropenis, Abnormality of the kidney, Bro... ORPHA:168569
Bardet-Biedl Syndrome
Nephrotic syndrome, Obesity, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature ORPHA:110
Netherton Syndrome
Ectopic kidney, Hydronephrosis, Eczema, Aminoaciduria, Short stature, Erythroderma, Skin rash ORPHA:634
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst, Meningocele, Short stature ORPHA:2031
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Hydronephrosis ORPHA:531151
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Transketolase Deficiency
Renal cyst, Uveitis, Patent ductus arteriosus, Hepatomegaly, Seborrheic dermatitis, Proportionate... ORPHA:488618
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Pancreatic cysts, Splenomegaly, Multiple renal cysts ORPHA:464329
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
X-Linked Agammaglobulinemia
Neutropenia, Anemia, Hypocalcemia, Thrombocytopenia ORPHA:47
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Displacement of the ureth... ORPHA:2973
Toluene Embryopathy
Abnormal localization of kidney, Hydronephrosis, Short stature ORPHA:1920
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254534
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Micropenis, Hyperechogenic kidneys, Microphallus, Hypospadias OMIM:612651
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Axial Mesodermal Dysplasia Spectrum
Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney, Short sta... ORPHA:1834
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Proteinuria, Thickened glomerular basement membrane, Nephritis, Microscopic h... OMIM:301050
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
Retinal Venous Beading
Nephritis OMIM:180080
Joubert Syndrome 14
Renal cyst, Growth delay OMIM:614424
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Hepatosplenomegaly, Hepatomegaly, Polycystic kidney dysplasia OMIM:608776
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma, Seborrheic dermatitis, Ovarian serous cystadenoma ORPHA:276280
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias OMIM:616449
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... ORPHA:848
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Mody
Glycosuria, Large for gestational age, Renal cyst, Intrauterine growth retardation, Obesity, Abno... ORPHA:552
Distal Tetrasomy 15Q
Large for gestational age, Horseshoe kidney, Intrauterine growth retardation, Patent ductus arter... ORPHA:314588
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Unilateral renal hypoplasia, Acute kidney injury, Dysuria, Hydronephrosis, He... ORPHA:49041
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Patent ductus arteriosus OMIM:300048
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Megacystis, Hydroureter, Neonatal death, Fetal megacystis OMIM:619362
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Hypocalcemia, Splenomegaly, Anemia, Thrombocytopenia OMIM:259700
Colchicine Poisoning
Hypokalemia, Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypocalcemia, Hypophos... ORPHA:31824
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Harrod Syndrome
Multicystic kidney dysplasia, Failure to thrive, Intrauterine growth retardation, Hypospadias ORPHA:2115
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Meckel Syndrome, Type 4
Renal cyst, Meningocele, Intrauterine growth retardation OMIM:611134
Trisomy 13
Abnormality of the ureter, Intrauterine growth retardation, Patent ductus arteriosus, Hydronephro... ORPHA:3378
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Hyperpigmentation of the skin, Generalized reticulate brown pigmentatio... ORPHA:158681
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Nephrotic syndrome, Proteinuria, Mesangial hypercellularity, Arthr... ORPHA:91139
Igg4-Related Aortitis
Hydronephrosis, Increased inflammatory response, Weight loss ORPHA:449400
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Timothy Syndrome
Hypocalcemia OMIM:601005
Distal Renal Tubular Acidosis
Renal cyst, Nephrocalcinosis, Hypermagnesiuria, Nephrolithiasis, Hypocitraturia, Hypercalciuria, ... ORPHA:18
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Severe postnatal growth retardation, Hydronephrosis, Polycystic kidney... ORPHA:2237
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Large for gestational age, Ureteral stenosis, Nephrocalcinosis, Renal cyst, Patent ductus arterio... OMIM:615398
Mckusick-Kaufman Syndrome
Glandular hypospadias, Patent ductus arteriosus, Hydronephrosis, Multicystic kidney dysplasia, Fa... ORPHA:2473
Atresia Of Urethra
Hydronephrosis, Dilatation of the bladder, Patent urachus, Megacystis, Renal dysplasia, Recurrent... ORPHA:105
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Intrauterine growth retardation, Hypospadias OMIM:220210
Autosomal Recessive Polycystic Kidney Disease
Oliguria, Enlarged kidney, Recurrent pneumonia, Reduced renal corticomedullary differentiation, H... ORPHA:731
Pediatric Systemic Lupus Erythematosus
Myositis, Nephrotic syndrome, Hematuria, Proteinuria, Nephritis, Abnormality of the urinary syste... ORPHA:93552
Femoral-Facial Syndrome
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Short stature, Renal hy... ORPHA:1988
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hydronephrosis, Renal hypoplasia, Aminoaciduria OMIM:617913
Wolfram Syndrome 1
Hydroureter, Hydronephrosis, Growth delay, Neurogenic bladder OMIM:222300
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Feingold Syndrome Type 1
Horseshoe kidney, Patent ductus arteriosus, Hydronephrosis, Abnormality of the kidney, Renal dysp... ORPHA:391641
Trisomy 17P
Intrauterine growth retardation, Patent ductus arteriosus, Hydronephrosis, Hypoplasia of penis, G... ORPHA:261290
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Aapoaiv Amyloidosis
Glomerular sclerosis, Proteinuria, Abnormal renal medulla morphology, Chronic kidney disease, Ren... ORPHA:439232
Leprechaunism
Enlarged kidney, Nephrocalcinosis, Decreased body weight, Hypercalciuria, Long penis, Severe intr... ORPHA:508
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Hydronephrosis, Failure to thrive, Recurrent pneumonia OMIM:619179
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Hepatomegaly OMIM:607361
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Odontochondrodysplasia 1
Short stature, Mesomelic short stature, Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Rhabdoid Tumor
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:69077
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Growth delay, Renal insufficiency ORPHA:445038
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Rhizomelia, Renal hypoplasia, Glomerulonephritis, Hepatomegaly, Chronic tubulointers... OMIM:614376
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Hypocalcemia, Splenomegaly, Anemia, Hypochromic microcytic anemia, Hy... OMIM:259720
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urinary bladder inflammation, Recurrent skin infections, Hematuria, Renal duplication, Hydronephr... ORPHA:79403
Branchio-Oculo-Facial Syndrome
Renal agenesis, Intrauterine growth retardation, Hydronephrosis, Multicystic kidney dysplasia, Sh... ORPHA:1297
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Tarp Syndrome
Hydronephrosis, Failure to thrive, Horseshoe kidney, Intrauterine growth retardation OMIM:311900
Alstrom Syndrome
Recurrent pneumonia, Tubulointerstitial nephritis, Hepatomegaly, Truncal obesity, Short stature, ... OMIM:203800
Adenosine deaminase, elevated, hemolytic anemia due to
Elevated red cell adenosine deaminase level, Hyperuricemia, Hemolytic anemia, Anisopoikilocytosis... OMIM:102730
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormality of medullary pyramid morphology, Recurrent aspiration pneumonia, Intrauterine growth ... ORPHA:79243
Zellweger Syndrome
Hydronephrosis, Hepatomegaly, Multicystic kidney dysplasia, Failure to thrive, Short stature, Hyp... ORPHA:912
22Q11.2 Duplication Syndrome
Hydronephrosis, Growth delay, Urethral stenosis, Displacement of the urethral meatus ORPHA:1727
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation OMIM:268040
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Patent ductus arteriosus, Proteinuria, U... ORPHA:505248
Diabetic Embryopathy
Micropenis, Hydronephrosis, Ureteral duplication, Renal hypoplasia/aplasia ORPHA:1926
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Epididymal cyst, Nephrolithiasis, Decreased nu... OMIM:137920
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis, Intrauterine growth retardation ORPHA:73246
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Small for gestational age, Micropenis, Hydronephrosis, Cardiomeg... OMIM:616897
Meacham Syndrome
Enlarged kidney, Horseshoe kidney, Patent ductus arteriosus, Neonatal death, Stillbirth OMIM:608978
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Hyperpigmentation of the skin OMIM:133750
Vacterl/Vater Association
Renal agenesis, Ectopic kidney, Intrauterine growth retardation, Hydronephrosis, Hypoplasia of pe... ORPHA:887
Johanson-Blizzard Syndrome
Intrauterine growth retardation, Hydronephrosis, Hypoplasia of penis, Failure to thrive, Short st... ORPHA:2315
Joubert Syndrome 6
Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal cyst, Renal hypoplasia, Polycystic kidney dysplasia, Short stature, Hypospadias OMIM:614091
Al-Gazali Syndrome
Hydronephrosis, Failure to thrive, Recurrent pneumonia OMIM:609465
17Q12 Microdeletion Syndrome
Ureterocele, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Renal insuffi... ORPHA:261265
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal cyst, Pancreatic cysts, Proteinuria, Chronic kidney disease, Short stature, Nephritis, Rena... OMIM:208500
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Large for gestational age, Enlarged kidney, Bifid ureter, Renal malrotation, Multicystic kidney d... ORPHA:500095
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria, Renal tubular epithelial necrosis, ... ORPHA:228302
Cystic Echinococcosis
Renal cyst, Hepatic cysts, Hepatomegaly, Ovarian cyst, Membranous nephropathy, Weight loss ORPHA:400
Webb-Dattani Syndrome
Hydronephrosis, Vesicoureteral reflux, Neurogenic bladder OMIM:615926
Mesomelia-Synostoses Syndrome
Hydronephrosis, Short stature ORPHA:2496
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis, Short stature, Slender build ORPHA:364028
Hypophosphatasia
Anemia, Hypercalcemia ORPHA:436
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Zaki Syndrome
Renal agenesis, Hydronephrosis, Short stature, Patent ductus arteriosus OMIM:619648
Suleiman-El-Hattab Syndrome
Hydronephrosis, Failure to thrive OMIM:618950
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria, Polycystic ... ORPHA:157
Khan-Khan-Katsanis Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Hydronephrosis, Renal hypoplasia, Fail... OMIM:618460
Intellectual Disability, Buenos-Aires Type
Hydronephrosis, Short stature ORPHA:3079
Trisomy 1Q
Multicystic kidney dysplasia, Hydronephrosis, Patent ductus arteriosus, Congenital megaureter ORPHA:261344
Kenny-Caffey Syndrome, Type 2
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Short stature, Renal cyst, Horseshoe kidney, Intrauterine growth retardation ORPHA:166035
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst ORPHA:480536
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatosplenomegaly, Intrauterine growth retardation, Hydronephrosis, Growth delay, Duplicated col... ORPHA:541423
Gracile Bone Dysplasia
Hypoplastic spleen, Hypocalcemia, Asplenia OMIM:602361
Meckel Syndrome, Type 7
Hepatosplenomegaly, Multiple glomerular cysts, Pancreatic cysts, Patent ductus arteriosus, Multic... OMIM:267010
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Intrauterine growth retardation, Small for gestational age, Micropenis, Hydronephrosis, Hypospadi... OMIM:301056
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Neutropenia, Severe Congenital, 4, Autosomal Recessive