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Gene: Hspa4l MGI:107422

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
heat shock protein 4 like
Synonyms:
Osp94,  94kDa,  APG-1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hspa4l 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 Hspa4l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... ORPHA:35710
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Blue Diaper Syndrome
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... OMIM:143880
Webb-Dattani Syndrome
Neurogenic bladder, Cryptorchidism, Obesity, Hyposthenuria, Vesicoureteral reflux, Hypernatremia,... OMIM:615926
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Abnormal vagina morphology, Hypercalcemia, Renal hypoplasia/aplasia ORPHA:2123
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Failure to thrive OMIM:239199
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Cryptorchidism, Hypercalciuria, Micropenis OMIM:614732
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Failure to thrive, Functional abnormality of the bladder, Enure... ORPHA:223
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Hypernatremia, Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypernatremia, Megacystis, Polyuria OMIM:304800
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoargininemia, Hyperglutaminemia, Low plasma... OMIM:615751
2P21 Microdeletion Syndrome
Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia, Failure to thrive ORPHA:163693
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Blue Diaper Syndrome
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia ORPHA:94086
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... OMIM:615703
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic ... ORPHA:97362
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia ORPHA:2668
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Small Cell Carcinoma Of The Bladder
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria ORPHA:284400
Adrenal Hypoplasia, Congenital
Hyponatremia, Hypogonadotropic hypogonadism, Renal salt wasting, Precocious puberty, Cryptorchidi... OMIM:300200
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... ORPHA:99879
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... OMIM:145001
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Renal salt wasting, Precocious puberty, Cryptorchidism, Hyperkalemia, Failure to th... OMIM:614736
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Failure to thrive, Hypergonadotropic hypogonadism,... OMIM:617872
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Rhabdoid Tumor
Hematuria, Renal neoplasm, Hypercalcemia, Weight loss ORPHA:69077
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... OMIM:154230
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... ORPHA:49041
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic s... ORPHA:2239
Image Syndrome
Hypogonadism, Cryptorchidism, Hypospadias, Hydronephrosis ORPHA:85173
Oculoskeletodental Syndrome
Renal agenesis, Hypercalcemia, Small for gestational age, Cryptorchidism, Hypercalciuria, Mucopol... OMIM:618440
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... ORPHA:94080
Macdermot-Winter Syndrome
Hydronephrosis, Hypoplastic male external genitalia OMIM:247990
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... ORPHA:284426
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... ORPHA:251004
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Increased circulating renin level, Renal... ORPHA:556037
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Central Diabetes Insipidus
Hyponatremia, Failure to thrive, Nocturia, Weight loss ORPHA:178029
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Obesity, Hypogonadism, Hydron... OMIM:615996
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Adamantinoma
Hypercalcemia ORPHA:55881
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Increased circulating renin level, Renal... ORPHA:556030
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Clitoral hypertrophy, Hypospadias, Renal salt wasting, Female external genitalia in... ORPHA:90791
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Lacticaciduria,... ORPHA:3008
Orthostatic Hypotension 1
Hypomagnesemia, Retrograde ejaculation, Nocturia, Increased blood urea nitrogen OMIM:223360
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... OMIM:241500
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Decreased HDL cholesterol concentration, Renal insufficiency, Primary testicula... ORPHA:85450
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... OMIM:145981
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive OMIM:203400
Juvenile Nephropathic Cystinosis
Hyponatremia, Renal insufficiency, Failure to thrive, Proteinuria, Hypocalcemic tetany, Hypourice... ORPHA:411634
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia ORPHA:557003
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive OMIM:610600
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria OMIM:145980
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Decreased female libido, Hypercalcemia, Decreased urinary pota... ORPHA:95409
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Precocious puberty, Cryptor... ORPHA:361
Hyperchlorhidrosis, Isolated
Hyponatremia, Failure to thrive, Hyperkalemia OMIM:143860
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive, Cys... OMIM:606407
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... OMIM:239200
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Impotence, Oligomenorrhea, Hyponatremia ORPHA:91354
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Failure to thrive, Hyperkalemia, Renal salt wasting OMIM:264350
Hereditary Coproporphyria
Dark urine, Hyponatremia, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ... ORPHA:79273
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Hypercalcemia, Nephrolithiasis, Renal ... ORPHA:143
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... ORPHA:3467
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Hyponatremia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaph... OMIM:201810
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... OMIM:601678
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... ORPHA:48
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep... OMIM:613390
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Obesity OMIM:603233
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl... OMIM:314300
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Hypercalcemia, Nephrolithiasis, Renal ... ORPHA:99880
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Hypercalcemia, Weight loss ORPHA:97289
Congenital Myopathy 19
Cryptorchidism, Renal atrophy, Hydronephrosis OMIM:618578
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Hypernatremia, Hypoalbuminemia OMIM:615508
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia OMIM:156400
Monosomy 13Q34
Fetal pyelectasis, Metrorrhagia, Hypercalcemia, Obesity ORPHA:96168
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Hartsfield Syndrome
Cryptorchidism, Micropenis, Hypernatremia, Hypospadias OMIM:615465
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Increased circulating renin level, H... ORPHA:168558
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Multiple Myeloma
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Weight ... ORPHA:29073
Aica-Ribosuria Due To Atic Deficiency
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Clitoral hypertrophy, Hyponatremi... OMIM:608688
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Increased circulating renin level, H... ORPHA:289548
Addison Disease
Hyponatremia, Primary testicular failure, Premature ovarian insufficiency, Decreased female libid... ORPHA:85138
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Cr... OMIM:617053
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypo... OMIM:618183
Bartter Syndrome Type 4
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... ORPHA:89938
Xanthinuria, Type I
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis OMIM:278300
Late-Onset Isolated Acth Deficiency
Hyponatremia, Premature ovarian insufficiency, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuri... ORPHA:199299
Pseudohypoparathyroidism, Type Ic
Obesity, Hyperphosphatemia, Hypogonadism, Hypocalcemia, Low urinary cyclic AMP response to PTH ad... OMIM:612462
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Drug-Induced Lupus Erythematosus
Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... ORPHA:231111
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... OMIM:274150
Infantile Myofibromatosis
Hypercalcemia, Abnormality of the kidney ORPHA:2591
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Primary amenorrhea OMIM:612526
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Retrograde ejacul... ORPHA:230
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... ORPHA:247353
Autosomal Recessive Spastic Paraplegia Type 46
Urinary incontinence, Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased t... ORPHA:320391
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... ORPHA:427
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Lead Poisoning
Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Abno... ORPHA:330015
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Failure to thrive in infancy, Hydronephrosis ORPHA:85285
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Hydronephrosis OMIM:619797
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Renal a... OMIM:617913
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Hypercalciuria, Renal cyst, Obesity, Nep... ORPHA:369837
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Hypoalbuminemia, Hyper... ORPHA:1667
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Failure to thrive, Hydronep... OMIM:609757
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys, Hydronephrosis,... ORPHA:2237
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:94090
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ... ORPHA:31824
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:173
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased urinary porphobilinogen, In... ORPHA:100924
Joubert Syndrome 37
Cryptorchidism, Obesity, Hydronephrosis, Micropenis, Decreased testicular size OMIM:619185
Prune Belly Syndrome
Cryptorchidism, Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Snakebite Envenomation
Hyponatremia, Acute kidney injury ORPHA:449285
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Cryptorchidism, Increased blood urea nitrogen, Male hypogonadis... ORPHA:90321
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Pheochromocytoma
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Abnormal ovarian physiology,... ORPHA:90794
Adenohypophysitis
Hyponatremia, Decreased female libido, Impotence, Hyposthenuria, Decreased male libido, Amenorrhea ORPHA:95512
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Hypercalcemia OMIM:602080
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hy... OMIM:615989
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:36913
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level OMIM:177735
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Male pseudohermaphroditism, Hyperkalemia, Macroorchidism, Ab... ORPHA:90790
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis OMIM:618060
Porphyria Variegata
Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di... ORPHA:79473
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... ORPHA:447
Panhypophysitis
Hyponatremia, Decreased female libido, Impotence, Hyposthenuria, Decreased male libido, Amenorrhea ORPHA:95513
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Failure to thrive, Urinary incontinence ORPHA:476126
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Micropenis, Hypocalcemic seizures OMIM:241410
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... OMIM:223900
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Micropenis, Abnormal morphology o... ORPHA:1926
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cryptorchidism, Hypoplasia of penis, Small scrotum, Hydronephrosis ORPHA:2083
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Hydronephrosis OMIM:179613
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Abnormal renal morphology, Abnormality of the uterus, Vaginal atresia, Abnormal f... ORPHA:1655
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni... ORPHA:171876
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Toluene Embryopathy
Cryptorchidism, Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Sheehan Syndrome
Hyponatremia, Dyspareunia, Decreased female libido, Obesity, Impotence, Hyposthenuria, Oligomenor... ORPHA:91355
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia ORPHA:1438
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Cryptorchidism, Hydronephrosis ORPHA:531151
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Legionnaires Disease
Hematuria, Renal insufficiency, Proteinuria, Hyponatremia ORPHA:549
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Polymicrogyria, Hydronephrosis OMIM:618494
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Failure to thrive OMIM:620157
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia ORPHA:1563
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase concentration, Lo... OMIM:608836
Distal Triplication 15Q
Abnormal external genitalia, Abnormality of the kidney, Large for gestational age, Dilatation of ... ORPHA:314588
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Acute Intermittent Porphyria
Dark urine, Hyponatremia, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Incr... ORPHA:79276
Suleiman-El-Hattab Syndrome
Cryptorchidism, Failure to thrive, Hydronephrosis OMIM:618950
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Multiple Endocrine Neoplasia Type 2
Cervical neoplasm, Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepine... ORPHA:653
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammo... OMIM:617093
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Hypocalcemia, Micropenis, ... OMIM:607143
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Elevated circulating creatine kinase concentration, Sm... OMIM:301056
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis OMIM:235255
Johanson-Blizzard Syndrome
Hypoplasia of penis, Failure to thrive, Hypospadias, Abnormal vagina morphology, Abnormality of t... ORPHA:2315
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Ovarian cyst, Hypophosphatemia ORPHA:249
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Precocious puberty, Oligozoospermia, Hypokalemia, Oligomenorrhe... ORPHA:786
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia, Anoperineal ... OMIM:619381
Whipple Disease
Hyponatremia, Cachexia, Erectile dysfunction ORPHA:3452
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Alg8-Cdg
Hyponatremia, Failure to thrive, Small for gestational age ORPHA:79325
Trisomy 13
Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea... ORPHA:3378
Gracile Bone Dysplasia
Micropenis, Failure to thrive, Hypocalcemia OMIM:602361
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec... ORPHA:887
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Testicular atrophy, Hydronephrosis OMIM:222300
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Cryptorchidism, Pr... ORPHA:534
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Abnormal localization of kidney, C... ORPHA:2510
Alg12-Cdg
Hyponatremia, Failure to thrive, Hypospadias, Cryptorchidism, Hypoalbuminemia, Hypocholesterolemi... ORPHA:79324
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... ORPHA:2973
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Sanjad-Sakati Syndrome
Cryptorchidism, Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Micropenis, Slender build, Hydronephrosis ORPHA:364028
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... ORPHA:90038
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive OMIM:214700
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hypoplastic labia majora, Hydronephrosis OMIM:619217
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections OMIM:619218
Shigellosis
Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Urethritis, Abnormal blood... ORPHA:810
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Multiple Endocrine Neoplasia Type 4
Increased urinary cortisol level, Hypercalcemia, Testicular neoplasm, Cervix cancer, Renal angiom... ORPHA:276152
Trisomy 1Q
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Congenital megaureter, Ambiguous gen... ORPHA:261344
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis, Decreased body weight OMIM:618265
Pseudohypoparathyroidism, Type Ia
Obesity, Hyperphosphatemia, Hypogonadism, Low urinary cyclic AMP response to PTH administration, ... OMIM:103580
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo... ORPHA:73224
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Zellweger Syndrome
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Cryptorchidism, Polymicrogyria, Hyd... ORPHA:912
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Hydronephrosis, Dysgyria OMIM:620327
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney ORPHA:1764
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Failure to thrive, Small for gestational age, Patent urachus OMIM:618252
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Nephrolithiasis, Hypophosphatemia ORPHA:93160
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Hydronephrosis OMIM:613735
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Pituitary Apoplexy
Hyponatremia, Impotence, Hypergonadotropic hypogonadism, Oligomenorrhea ORPHA:95613
Igg4-Related Aortitis
Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:449400
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... ORPHA:904
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures OMIM:264700
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Obesity, Hyperphosphatemia, Hypocalcemia, Oligomenorr... ORPHA:79444
Noonan Syndrome 4
Ureteral duplication, Large for gestational age, Hydronephrosis, Cryptorchidism OMIM:610733
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, Hydronephrosis, Hypogonadism, Micropenis, Pachygyria, Decreased testicular size OMIM:612513
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro... ORPHA:2473
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Hypercalciuria, Nephrolithiasis, Weight loss, Impotence, Decreased male libido, Am... ORPHA:652
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic syndrome, Crypto... OMIM:611209
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Peroxisome Biogenesis Disorder 1A (Zellweger)
Failure to thrive, Hypospadias, Cryptorchidism, Gray matter heterotopia, Albuminuria, Aminoacidur... OMIM:214100
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Micropenis, Hypospadias, Hydronephrosis OMIM:616897
Autosomal Dominant Hypocalcemia
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria ORPHA:428
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Cryptorchidism, Obesity, Renal cyst, Vesic... ORPHA:261494
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Failure to thrive, Polymicrogyria, Hydronephrosis ORPHA:488613
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis OMIM:220210
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Abnormal urine potassium concen... ORPHA:275761
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Refractory Celiac Disease
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Gapo Syndrome
Dysmenorrhea, Nephrolithiasis, Oligozoospermia, Hypogonadism, Amenorrhea ORPHA:2067
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Failure to thrive in infancy, Hypercalce... OMIM:194050
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis ORPHA:1727
Rabin-Pappas Syndrome
Hyponatremia, Failure to thrive in infancy, Obesity OMIM:620155
Craniofacioskeletal Syndrome
Cryptorchidism, Hypocalcemia, Hypospadias, Hydronephrosis OMIM:300712
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ... ORPHA:544482
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Large for gestational age, Hydr... OMIM:614080
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis, Renal d... ORPHA:96169
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Proteinuria, Failure to thrive in infancy, Cryptorchidism, Abn... ORPHA:2162
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age ORPHA:391673
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Hydronephrosis ORPHA:457193
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Cryptorchidism, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflux, Pachygy... OMIM:235510
Carpenter Syndrome 1
Hydroureter, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesity, Hydronephr... OMIM:201000
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia OMIM:175500
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V... OMIM:236700
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hypercalcemia, Weight loss ORPHA:913
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy ORPHA:85201
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:94089
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:352540
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... ORPHA:158684
Trisomy 20P
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... ORPHA:261318
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis ORPHA:568
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Simplified gyral pattern, Pachygyria, Hydronephrosis OMIM:619179
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Small for gestational age, Septate vagina, Bicornuate ute... OMIM:300707
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Sarcoidosis
Renal insufficiency, Hypercalcemia, Abnormal reproductive system morphology, Nephrolithiasis, Hyp... ORPHA:797
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Hyponatremia, Small scrotum, Hypospadias, Small for gestationa... OMIM:201750
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic ... ORPHA:731
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina... OMIM:258040
Myotonic Dystrophy 2
Hypogonadism, Elevated circulating creatine kinase concentration, Oligozoospermia OMIM:602668
Microphthalmia, Syndromic 9
Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, ... OMIM:601186
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures ORPHA:289157
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Pelvic kidney, Hydronephrosis OMIM:613001
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Cryptorchidism, Horseshoe kidney, Multiple renal cysts, Abn... ORPHA:99776
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Cryptorchidism, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis ORPHA:163979
Liver Disease, Severe Congenital
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... OMIM:619991
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Hypocalcemia, Hypophosphatemia OMIM:600081
Ethylene Glycol Poisoning
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... ORPHA:31826
Penile Agenesis
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... ORPHA:49
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
X-Linked Agammaglobulinemia
Failure to thrive, Hypocalcemia, Weight loss ORPHA:47
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... OMIM:233450
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Obesity, Hyperphosphatemia, Hypocalcemia, Oligomenorr... ORPHA:79443
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Failure to thrive, Infertility, Weight loss OMIM:212750
3C Syndrome
Hypoplasia of penis, Hypospadias, Hydronephrosis, Abnormality of neuronal migration ORPHA:7
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, Elevated circulating... ORPHA:36234
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Ambiguous genitalia, Abnormality of the ... ORPHA:847
Mosaic Trisomy 8
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Decreased testicular size ORPHA:96061
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Tubulointerstitial neph... ORPHA:37042
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Hypogonadism, Failure to thrive, Decreased testicul... ORPHA:261349
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Small for gestational age, Cryptorchidism, Gray matter hetero... OMIM:610443
Infant Botulism
Hyponatremia ORPHA:178478
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Decreased serum zinc, Hydronephrosis ORPHA:541423
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Micropenis, Hydronephrosis OMIM:617798
Pallister-Hall Syndrome
Renal dysplasia, Decreased testicular size, Hydroureter, Distal urethral duplication, Ectopic kid... OMIM:146510
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicornuate uterus, Vesicoureteral refl... ORPHA:2059
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, Abnormality of the urinary system, Micropenis, Hydronephrosis ORPHA:96092
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Cryptorchidism, Failure to thrive, Hydronephrosis ORPHA:250989
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Cryptorchid... ORPHA:464311
Musculocontractural Ehlers-Danlos Syndrome
Cryptorchidism, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Hydrone... ORPHA:2953
Vipoma
Hypokalemia, Hypercalcemia, Weight loss ORPHA:97282
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Takenouchi-Kosaki Syndrome
Cryptorchidism, Hypospadias, Hydronephrosis, Unilateral renal agenesis OMIM:616737
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux,... OMIM:618454
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Obesity, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis OMIM:618653
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomagnesemia, Hypermagnesemia, ... ORPHA:358
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Ppoma
Hypercalcemia, Weight loss ORPHA:97278
Primary Intestinal Lymphangiectasia
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Erdheim-Chester Disease
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Weight loss, Hydronephrosis ORPHA:35687
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis, Clitoral hypertrophy OMIM:616449
Chondrodysplasia Punctata 2, X-Linked Dominant
Failure to thrive, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydronephrosis OMIM:302960
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cryptorchidism, Gray matter heterotopia, Vesicoureteral reflux, Failure to thrive, Abnormal bladd... ORPHA:453499
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Ambiguous genitalia, Hypospadias, Abn... ORPHA:95699
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Cryptorchidism, Shawl scrotum, Micropenis, Hydronephrosis OMIM:301040
Baraitser-Winter Cerebrofrontofacial Syndrome
Failure to thrive, Hydroureter, Abnormality of the upper urinary tract, Polymicrogyria, Macrogyri... ORPHA:2995
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
Somatostatinoma
Hypercalcemia, Weight loss ORPHA:97283
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... ORPHA:900
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Hydronephrosis,... OMIM:615287
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis ORPHA:2437
Timothy Syndrome
Hypocalcemia OMIM:601005
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Grfoma
Hypercalcemia, Weight loss ORPHA:97261
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Nephrolithiasis, Proximal renal tubular acido... ORPHA:2785
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:610505
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Failure to thrive, Hydronephrosis, Elevated circulating creatine kinase conce... OMIM:608779
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Hydronephrosis ORPHA:2839
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Cryptorchid... ORPHA:464306
Pearson Syndrome
Renal insufficiency, Proteinuria, Small for gestational age, Hypomagnesemia, Lacticaciduria, Rena... ORPHA:699
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Ureteropelvic junction obstruction, Failure to thrive, Hydronephrosis ORPHA:444072
Au-Kline Syndrome
Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Fa... OMIM:616580
Glucagonoma
Hypercalcemia, Weight loss ORPHA:97280
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Penos... OMIM:270400
Gabriele-De Vries Syndrome
Cryptorchidism, Ureteropelvic junction obstruction, Hydronephrosis OMIM:617557
Pituitary Dermoid And Epidermoid Cysts
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia OMIM:259700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla... ORPHA:280633
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Failure to thrive, Hyperkalemia ORPHA:293978
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Simplified gyral pattern, Obesity, Enures... ORPHA:96121
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Hypogonadotropic hypo... OMIM:604292
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Hydronephrosis, Obesity OMIM:619269
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Baller-Gerold Syndrome
Failure to thrive in infancy, Abnormality of the ureter, Abnormal localization of kidney, Vesicou... ORPHA:1225
Japanese Encephalitis
Hyponatremia ORPHA:79139
Trisomy 18
Cachexia, Abnormality of the upper urinary tract, Cryptorchidism, Abnormal morphology of female i... ORPHA:3380
Tarp Syndrome
Failure to thrive, Hydronephrosis, Horseshoe kidney OMIM:311900
Bloom Syndrome
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Small for ... ORPHA:125
Campomelic Dysplasia
Ambiguous genitalia, Male pseudohermaphroditism, Hydronephrosis ORPHA:140
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Abnormality of the urinary system, ... ORPHA:2745
Tarp Syndrome
Cryptorchidism, Failure to thrive, Hydronephrosis, Horseshoe kidney ORPHA:2886
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Periventricular heterotopia OMIM:618476
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Cardiofaciocutaneous Syndrome
Cryptorchidism, Failure to thrive in infancy, Hydronephrosis ORPHA:1340
Al-Gazali Syndrome
Failure to thrive, Hydronephrosis OMIM:609465
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive in infancy, Renal hypoplasia OMIM:618975
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Failure to thrive, Hyd... OMIM:618460
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Distal Deletion 12Q
Unilateral cryptorchidism, Failure to thrive in infancy, Ectopic kidney, Obesity, Polycystic kidn... ORPHA:96149
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia, Failure to thrive OMIM:618426
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity, Enuresis ORPHA:293987
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Renal agenesis, Hypospadias, Large for gestational age, Cryp... OMIM:229850
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Cryptorchidism, Urachus fistula, Failure to thrive, Hydroneph... OMIM:612541
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis, Elevated circulating creatine kinase concentration OMIM:614921
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Failure to thrive, Small for gestational age, Oligozoospermia OMIM:614813
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Renal agenesis, Hypogonadotropic hypogonadism, Cryptor... OMIM:129900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Velocardiofacial Syndrome
Cryptorchidism, Hypocalcemia OMIM:192430
Robinow Syndrome
Multicystic kidney dysplasia, Small scrotum, Small for gestational age, External genital hypoplas... ORPHA:97360
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia ORPHA:746
Thakker-Donnai Syndrome
Rectovaginal fistula, Hydronephrosis ORPHA:1780
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Small for gestational age, Precocious puberty, Cryptorchidism, Dilat... ORPHA:2044
Robinow Syndrome, Autosomal Recessive 1
Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Hypoplastic labia majora, Clitoral hypoplasia,... OMIM:268310
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis ORPHA:314585
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Abnormal cortical gyration, Renal dysplasia OMIM:300968
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Hennekam Syndrome
Pachygyria, Hypocalcemia, Horseshoe kidney, Ectopic kidney ORPHA:2136
Raine Syndrome
Hydroureter, Hydronephrosis, Hypophosphatemia OMIM:259775
Otopalatodigital Syndrome Type 2
Hydronephrosis, Failure to thrive, Hypospadias, Ureteral obstruction ORPHA:90652
22Q11.2 Deletion Syndrome
Hypospadias, Cryptorchidism, Renal hypoplasia, Obesity, Multiple renal cysts, Abnormality of the ... ORPHA:567
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Cryptorchidism, Polymicrogyria, Horseshoe ki... ORPHA:3310
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Small scrotum, Hypoplastic labia minora, Hypoplastic... OMIM:269150
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Cryptor... ORPHA:818
Basel-Vanagaite-Smirin-Yosef Syndrome
Male urethral meatus stenosis, Hydronephrosis, Hypospadias ORPHA:464738
White-Kernohan Syndrome
Hydroureter, Obesity, Horseshoe kidney, Rectovaginal fistula, Hydronephrosis OMIM:619426
Cousin Syndrome
Ambiguous genitalia, female, Ambiguous genitalia, male, Hydronephrosis OMIM:260660
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Trisomy 8P
Cryptorchidism, Fetal pyelectasis, Nephrocalcinosis, Micropenis, Hydronephrosis ORPHA:264450
Dubowitz Syndrome
Cryptorchidism, Hypospadias, Hydronephrosis, Abnormality of female external genitalia ORPHA:235
Cranioectodermal Dysplasia 1
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:218330
Apert Syndrome
Cryptorchidism, Vaginal atresia, Hydronephrosis OMIM:101200
Cat Eye Syndrome
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney OMIM:115470
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Small for gestational age, Hypocalcemia OMIM:127000
Digeorge Syndrome
Renal insufficiency, Unilateral renal agenesis, Obesity, Hydronephrosis, Ovarian cyst, Hydrocele ... OMIM:188400
Alg9-Cdg
Hypoplasia of the bladder, Ureteral hypoplasia, Bicornuate uterus, Hypoplasia of the ovary, Abnor... ORPHA:79328
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hypospadias, Small for gestational age, Testicular neoplasm, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hypospadias, Small for gestational age, Testicular neoplasm, ... ORPHA:363958
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Small scrotum, Small for gestational age, Hypoalbuminemia, Hy... OMIM:613658
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Hydronephrosis OMIM:251260
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur... OMIM:304150
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Cryptorchidism, Imperforat... OMIM:619522
Cardiofaciocutaneous Syndrome 1
Failure to thrive, Hydronephrosis OMIM:115150
Cartilage-Hair Hypoplasia
Failure to thrive, Mucopolysacchariduria, Hypocalcemia ORPHA:175
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydronephrosis, Unilateral renal agenesis OMIM:308050
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis OMIM:104350
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Hypoplastic fe... ORPHA:1507
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Large for gestational age, Hydrocele testis, Ureteropelvic junction... OMIM:280000
Teebi-Shaltout Syndrome
Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:2092
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Eec Syndrome
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis ORPHA:1896
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... OMIM:192350
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Polymicrogyria, Ureteropelvic junction obstruction, Failure to thrive, Hydron... OMIM:616973
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Gray matter heterotopia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Gray matter heterotopia ORPHA:352665
Jacobsen Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Pachygyria, Hydronephrosis ORPHA:2308
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... ORPHA:90324
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Johanson-Blizzard Syndrome
Hypospadias, Small for gestational age, Septate vagina, Urethrovaginal fistula, Conjugated hyperb... OMIM:243800
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Obesity, Renal cyst,... ORPHA:1606
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Nephrolithiasis, Obesity, Abnorm... ORPHA:353281
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Failure to thrive in infancy, Abnormality of the ureter, Nephrolithias... ORPHA:798
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... ORPHA:1359
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Micropenis, Decreased tes... OMIM:619321
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Decreased serum iron, Precocious puberty, Cryptorchidism, Nephrolithiasis, Vesi... ORPHA:438213
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Horseshoe kidney, Labial hypoplasia... ORPHA:138
Charge Syndrome
Renal agenesis, Hypogonadotropic hypogonadism, External genital hypoplasia, Cryptorchidism, Renal... OMIM:214800
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Varicocele, Nephrocalcinosis, Congenital post... OMIM:136140
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:487796
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Periventricular heterotopia, ... OMIM:606170
Gabriele-De Vries Syndrome
Cryptorchidism, Ureteropelvic junction obstruction, Small for gestational age, Hydronephrosis ORPHA:506358
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cryptorchidism, Micropenis, Failure to thrive, Hydronephrosis ORPHA:83617
Rubinstein-Taybi Syndrome 1
Hypospadias, Small for gestational age, Premature thelarche, Bilateral cryptorchidism, Cryptorchi... OMIM:180849
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Nephrotic syndrome, Hydronephrosis, Cryptorchidism OMIM:601776
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, A... ORPHA:2636
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R... ORPHA:289176
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Decreased testicular size, Hypocalcemic seizures ORPHA:93325
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Uterus... ORPHA:93271
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia, Small scrotum, Hydronephrosis OMIM:620330
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis ORPHA:2750
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Failure to thrive, Unilateral renal agenesis, Cryptorchidism, Urinary urgency, Hypocalcemia, Hypo... OMIM:619503
Ileal Neuroendocrine Tumor
Hydronephrosis, Weight loss ORPHA:100078
Monosomy 22Q13.3
Obesity, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia ORPHA:48652
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Arboleda-Tham Syndrome
Bilateral cryptorchidism, Recurrent urinary tract infections, Hydronephrosis OMIM:616268
Robinow Syndrome, Autosomal Dominant 1
Cryptorchidism, Hypoplastic labia majora, Clitoral hypoplasia, Micropenis, Hydronephrosis, Renal ... OMIM:180700
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cryptorchidism, Nephr... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cryptorchidism, Nephr... ORPHA:353277
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Vesicoureteral reflux, Hydronephrosis ORPHA:2363
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hypertriglyceridemia, Hypospadias, Hypogonadotropic hypogonad... ORPHA:3455
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, F... ORPHA:2273
Melnick-Needles Syndrome
Failure to thrive, Ureteral stenosis, Hydronephrosis OMIM:309350
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Multiple bladder diverticula OMIM:613177
Kabuki Syndrome 1
Crossed fused renal ectopia, Premature thelarche, Cryptorchidism, Micropenis, Anoperineal fistula... OMIM:147920
Knobloch Syndrome 1
Duplicated collecting system, Bifid ureter, Polymicrogyria, Hydronephrosis, Renal duplication OMIM:267750
Campomelic Dysplasia
Sex reversal, Failure to thrive, Hypospadias, Hydronephrosis OMIM:114290
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Aplasia of the uterus... OMIM:135900
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... ORPHA:709
Hydrolethalus Syndrome 1
Hypospadias, Abnormal cortical gyration, Bifid uterus, Gray matter heterotopia, Abnormal vagina m... OMIM:236680
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Bicornuate u... OMIM:265380
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction ORPHA:1826
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Failure to thrive, Conjugated hyperbilirubinemia, Increased circ... OMIM:619534
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Chime Syndrome
Hydronephrosis, Abnormality of the kidney ORPHA:3474
Okamoto Syndrome
Urinary incontinence, Bifid uterus, Unilateral renal hypoplasia, Ureteropelvic junction obstructi... ORPHA:2729
Focal Dermal Hypoplasia
Ureteral duplication, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia, Labial hypoplasia, B... OMIM:305600
Peters-Plus Syndrome
Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Cryptorchidism, Renal hypoplasia, Hy... OMIM:261540
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Recurrent urinary tract infections, Failure to thrive ORPHA:83471
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Micr... ORPHA:64
Mowat-Wilson Syndrome
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of th... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence... ORPHA:261537
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Cryptorchidism, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephro... OMIM:312870
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence... ORPHA:261552
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Hypospadias, Hydronephrosis OMIM:304120
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:363700
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hydronephrosis, Abnormal cortical gyration, Renal dysplasia ORPHA:480880
Viss Syndrome
Failure to thrive, Hydronephrosis OMIM:619472

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hspa4l

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hspa4l.

No publications found that use IMPC mice or data for Hspa4l.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Hspa4ltm42280(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hspa4ltm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Hspa4ltm42280(L1L2_Pgk_PM) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hspa4ltm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Hspa4ltm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hspa4ltm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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