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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Hypophosphatemia, Renal phosphate wasting, Me... OMIM:616963
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Failure to thrive, Hematuria, Weight loss, Nephrolithiasis, Renal i... ORPHA:35710
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration, Nephrocalcinosis OMIM:211000
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Granulomatous Slack Skin
Hypercalcemia, Acute kidney injury, Nephrocalcinosis ORPHA:33111
Webb-Dattani Syndrome
Hydronephrosis, Hypernatremia, Vesicoureteral reflux, Cryptorchidism, Neurogenic bladder OMIM:615926
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Renal hypoplasia/aplasia, Abnormal vagina morphology, Renal insufficiency ORPHA:2123
Morbid Obesity And Spermatogenic Failure
Oligospermia, Decreased HDL cholesterol concentration, Infertility, Azoospermia, Increased LDL ch... OMIM:615703
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria OMIM:239199
Nephrogenic Diabetes Insipidus
Hypernatremia, Failure to thrive, Enuresis nocturna, Functional abnormality of the bladder, Hydro... ORPHA:223
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Megacystis, Polyuria, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Megacystis, Polyuria, Hypernatremia OMIM:304800
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Renal insufficiency OMIM:240150
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
2P21 Microdeletion Syndrome
Failure to thrive, Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia ORPHA:163693
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Micropenis, Cryptorchidism, Hypercalciuria OMIM:614732
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Abnormality of the uterus, Mul... OMIM:617805
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive, Renal salt wasting, Cryptorchidism, Precocious pub... OMIM:614736
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Congenital Primary Megaureter
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... ORPHA:617
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... OMIM:143880
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... ORPHA:99879
Blue Diaper Syndrome
Hypercalcemia, Nephrocalcinosis, Hyperphosphatemia, Increased body weight, Blue urine ORPHA:94086
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Adrenal Hypoplasia, Congenital
Oligospermia, Hyponatremia, Azoospermia, Failure to thrive, Hypogonadotropic hypogonadism, Renal ... OMIM:300200
Small Cell Carcinoma Of The Bladder
Recurrent urinary tract infections, Hypercalcemia, Hematuria, Dysuria ORPHA:284400
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary re... OMIM:145001
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypomagnesemia, Male infertility, Hypocalcemia, Hypercalciuria, Hyperphosp... ORPHA:2239
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Hematuria, Weight loss ORPHA:69077
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Elevated c... ORPHA:49041
Image Syndrome
Hypogonadism, Hydronephrosis, Hypospadias, Cryptorchidism ORPHA:85173
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Failure to thrive, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinur... OMIM:613845
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Myoglobinuria, Hypernatremia, Elevated circulating creatine kinase co... ORPHA:94093
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Uremic Pruritus
Hypercalcemia, Chronic kidney disease, Stage 5 chronic kidney disease, Increased blood urea nitro... ORPHA:94059
Macdermot-Winter Syndrome
Hydronephrosis, Hypoplastic male external genitalia OMIM:247990
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... ORPHA:261529
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Increased blood urea nitrogen, Membranoproliferative glomer... ORPHA:251004
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Small for gestational age, Pelvic kidn... ORPHA:93101
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial ... ORPHA:85450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612926
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Hematuria, Weight loss, Elevated urinary norepinephr... ORPHA:94080
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Acute kid... ORPHA:284426
Adamantinoma
Hypercalcemia ORPHA:55881
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hyponatremia, Hypospadias, Azoospermia, Penoscrotal hypospadias, Abnormal labia maj... ORPHA:90791
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... OMIM:601198
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... ORPHA:2838
Pyruvate Carboxylase Deficiency
Hypernatremia, Neonatal hyperbilirubinemia, Lacticaciduria, Increased level of L-glutamic acid in... ORPHA:3008
Central Diabetes Insipidus
Failure to thrive, Hyponatremia, Weight loss, Nocturia ORPHA:178029
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Renal Fanconi syndrome, Hypokalemia, Failure to ... ORPHA:411634
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive, Renal salt wasting, Increased circulating renin level OMIM:203400
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Hydronephrosis, Failure to thrive, Recurrent urinary tract infections, Stage 2 chron... OMIM:191800
Hypophosphatasia, Infantile
Hypercalcemia, Elevated urine pyrophosphate, Nephrocalcinosis, Failure to thrive, Elevated plasma... OMIM:241500
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive, Renal salt wasting, Increased circulating renin level OMIM:610600
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Nephrolithiasis, Parathorm... OMIM:600740
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... OMIM:300971
Hereditary Coproporphyria
Hyponatremia, Porphyrinuria, Dark urine, Increased urinary porphobilinogen, Nephropathy, Elevated... ORPHA:79273
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Renal salt wasting, Hypokalemia, Increased urinary potassium, Failure to thrive, Hy... OMIM:602522
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Failure to thrive, Nephrolithiasis, Cystinuria, Hypocalcemia OMIM:606407
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility, Nephrolithiasis OMIM:301060
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Oculoskeletodental Syndrome
Hypercalcemia, Mucopolysacchariduria, Renal agenesis, Small for gestational age, Cryptorchidism, ... OMIM:618440
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:145981
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Hypercalciuria OMIM:145980
Oculocerebrodental Syndrome
Hypercalcemia, Nephrocalcinosis, Hypocalcemia ORPHA:557003
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Testicular adrenal rest tumor, Azoospermia, Failure to thrive, Weight... ORPHA:361
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia ORPHA:98797
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Failure to thrive, Weight loss, Decreased female libid... ORPHA:95409
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Oligomenorrhea, Impotence, Precocious puberty ORPHA:91354
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Cryptorchidism, Hydroureter OMIM:224250
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Renal dysplasia, Nephritis, Pyelonephritis, Cryptorchidism, Unilateral renal atrophy OMIM:314300
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Male infertility, Gonadal tissue inappropriate for ... ORPHA:98798
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Renal salt wasting, Hypokalemia, Increased urinary potassium, Failure to thrive, Hy... OMIM:613090
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... ORPHA:399805
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility, Elevated circulating creatinine concentration, Decreased glomerular filtr... ORPHA:730
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Failure to thrive, Renal salt wasting OMIM:264350
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hyperphosphaturia, Calcinosis, Aminoaciduria, Failure to thrive, Hypophosphatemia,... OMIM:239200
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Hereditary Xanthinuria
Hypouricemia, Hydronephrosis, Hyperxanthinemia, Decreased urinary urate, Increased urinary hypoxa... ORPHA:3467
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility, Abnormal renal morp... ORPHA:48
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... OMIM:613496
Fanconi Anemia, Complementation Group O
Hydronephrosis, External genital hypoplasia, Renal cyst, Stage 5 chronic kidney disease, Cryptorc... OMIM:613390
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Renal sodium wasting, Failure to thrive, Increased circulating renin ... ORPHA:556037
Pseudohypoparathyroidism, Type Ib
Obesity, Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia OMIM:603233
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hydronephrosis, Duplicated collecting system OMIM:617093
Cholera
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypokalemia, Spontaneous ab... ORPHA:173
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Hematuria, Weight loss, Glomerular sclerosis, Elevat... ORPHA:276621
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Hypomagnesiuria, Nephrolithiasis, Parathormone-independent ... ORPHA:405
Parathyroid Carcinoma
Hypercalcemia, Uterine leiomyoma, Nephrocalcinosis, Weight loss, Hypophosphatemia, Renal cyst, Ne... ORPHA:143
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Renal salt wasting, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokalemi... OMIM:601678
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Renal sodium wasting, Failure to thrive, Increased circulating renin ... ORPHA:556030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Elevated circulating creatine kinase concentration, Renal dysplasia, Renal cyst, ... OMIM:615287
Urofacial Syndrome 1
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Cryptorchidism, Enuresis, Ure... OMIM:236730
Thymic Neuroendocrine Tumor
Hypercalcemia, Weight loss, Calcium nephrolithiasis ORPHA:97289
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Hypercalciuria OMIM:156400
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Uterine leiomyoma, Nephrocalcinosis, Hypophosphatemia, Renal cyst, Nephrolithiasis... ORPHA:99880
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Polyuria, Hypokalemia OMIM:304900
Hypophosphatasia
Hypercalcemia, Failure to thrive in infancy ORPHA:436
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Hartsfield Syndrome
Hypospadias, Micropenis, Cryptorchidism, Hypernatremia OMIM:615465
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Midshaft hypospadias, Urogenital sinus an... ORPHA:168558
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Proteinuria, Elevated urinary norepinephrine OMIM:171420
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Reduced sperm motility, Urinary incontinence, Abnormal sp... ORPHA:320391
Xanthinuria, Type I
Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria OMIM:278300
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Midshaft hypospadias, Urogenital sinus an... ORPHA:289548
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Renal dysplasia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemi... OMIM:618183
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... ORPHA:84085
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Elevated circulating creatinine concentratio... ORPHA:29073
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... ORPHA:399808
Ochoa Syndrome
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Vesicou... ORPHA:2704
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Primary amenorrhea, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Hematuria, Elevated circulating C-reactive pr... ORPHA:231111
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Failure to thrive, Weight loss, Decreased female libid... ORPHA:85138
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Aplasia/hypoplasia of the uterus, Azoospermia, Renal dysplasia, Bicornuate uterus... ORPHA:2578
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Chronic kidney disease,... ORPHA:89938
Mirage Syndrome
Hyperkalemia, Hyponatremia, Hypospadias, Recurrent urinary tract infections, Decreased body weigh... OMIM:617053
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Retrograde ejaculation, Increased blood urea nitro... ORPHA:230
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Infertility, Decreased HDL cholesterol concentration, Re... ORPHA:330015
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Failure to thrive, Decreased urinary potassium, Proximal renal tubula... ORPHA:427
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Vesicoureteral Reflux 3
Hydronephrosis, Hydroureter, Vesicoureteral reflux OMIM:613674
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Renal cell carcinoma, Hematuria, Weight loss, Glomer... ORPHA:29072
Alpha-Heavy Chain Disease
Premature ovarian insufficiency, Hypocalcemia ORPHA:100025
Monosomy 13Q34
Fetal pyelectasis, Infantile hypercalcemia, Metrorrhagia, Obesity ORPHA:96168
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Atretic vas deferens, Reduced sperm motility, Elevated circulating... OMIM:137920
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Infantile Myofibromatosis
Hypercalcemia, Abnormality of the kidney ORPHA:2591
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Hyponatremia OMIM:618426
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome,... OMIM:235400
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Purple urine, Increased urinary porphobilinogen, Increased erythrocyte protoporphyr... ORPHA:100924
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... ORPHA:99845
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Cystinosis, Nephropathic
Hyponatremia, Renal Fanconi syndrome, Generalized aminoaciduria, Failure to thrive in infancy, Ne... OMIM:219800
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Failure to thrive in infancy, Vesicoureteral reflux ORPHA:85285
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Nephrocalcinosis, Hypocalcemia OMIM:179800
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Oliguria, Hypocalcemia, Renal insuff... ORPHA:31824
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Renal atrophy, Cryptorchidism OMIM:618578
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Aplasia of the uterus, Hypocalcemic seizures, Renal dysplasia, Uterus didelphys, ... ORPHA:2237
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Nephrocalcinosis, Abnormality of the urinary system, Congenital megaureter, Renal ... ORPHA:369837
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Wolcott-Rallison Syndrome
Hyponatremia, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Chronic kidney disease, Decrea... ORPHA:1667
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Failure to thrive, Weight loss, Hyperuricemia, Premature ovarian ins... ORPHA:199299
Adenohypophysitis
Hyponatremia, Amenorrhea, Decreased female libido, Impotence, Decreased male libido, Hyposthenuria ORPHA:95512
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Fused labia majora, Elevated urinary epinephrine, Abnormal external genita... ORPHA:90794
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Renal agenesis, Polymicrogyria, Cryptorchidism OMIM:618494
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
47,Xyy Syndrome
Oligospermia, Hypospadias, Macroorchidism, Azoospermia, Varicocele, Micropenis, Male infertility,... ORPHA:8
Snakebite Envenomation
Hyponatremia, Acute kidney injury ORPHA:449285
Hypophosphatemic Rickets
Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis, Failure to thrive, Hypophosphatemia, Precocio... ORPHA:437
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Cockayne Syndrome Type 1
Failure to thrive, Male hypogonadism, Increased blood urea nitrogen, Cryptorchidism, Proteinuria,... ORPHA:90321
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Renal Fanconi syndrome, Hemoglobinuria, Unconjugated hyperbilirubinemi... ORPHA:447
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level, Failure to thrive OMIM:177735
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Panhypophysitis
Hyponatremia, Amenorrhea, Decreased female libido, Impotence, Decreased male libido, Hyposthenuria ORPHA:95513
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Calcium nephrolithiasis, Hyperphosphatemia ORPHA:36913
Hemochromatosis, Type 2A
Increased serum iron, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Increa... OMIM:602390
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Pheochromocytoma
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine OMIM:171300
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Failure to thrive in infancy, Cryptorchidism, Renal insufficiency OMIM:611209
Porphyria Variegata
Hyponatremia, Porphyrinuria, Neurogenic bladder, Increased urinary porphobilinogen, Chronic kidne... ORPHA:79473
Sheehan Syndrome
Hyponatremia, Oligomenorrhea, Amenorrhea, Decreased female libido, Dyspareunia, Impotence, Obesit... ORPHA:91355
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating creatine kinase concentration OMIM:602668
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Failure to thrive in infancy, Weight loss, Increased circulating reni... ORPHA:171876
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Increased urinary cortisol level, Infertility, Oligomenorrhea, Hypokalemia, Ambiguo... ORPHA:786
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... OMIM:614837
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Legionnaires Disease
Hyponatremia, Hematuria, Proteinuria, Renal insufficiency ORPHA:549
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Glomerulonephriti... OMIM:104200
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia, Urinary incontinence ORPHA:476126
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Decreased body weight, Vesicoureteral reflux OMIM:618265
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Cachexia, Hypocalcemia ORPHA:1438
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Small for gestational age, Failure to thrive, Micropenis, Hypocalcemia, Cryptorchidism OMIM:607143
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Micropenis, Hypocalcemia, Cryptorchidism, Hyperphosphatemia OMIM:241410
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... OMIM:223900
Acute Intermittent Porphyria
Hyponatremia, Urinary retention, Dysuria, Porphyrinuria, Dark urine, Increased urinary porphobili... ORPHA:79276
Whipple Disease
Hyponatremia, Cachexia, Erectile dysfunction ORPHA:3452
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Azoospermia, Bicornuate uterus, Unilateral renal agenesis, Ectopic kidney, Hypopl... OMIM:601076
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Macroorchidism, Endometrial carcinoma, Failure to thrive, Female exte... ORPHA:90790
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Ureteral duplication, Decreased plasma free carnitine, Hydrone... OMIM:608836
Joubert Syndrome 37
Hydronephrosis, Micropenis, Obesity, Cryptorchidism, Decreased testicular size OMIM:619185
Dahlberg-Borer-Newcomer Syndrome
Renal insufficiency, Nephropathy, Hypocalcemia ORPHA:1563
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hypogonadism, Low urinary cyclic AMP response to PTH administration, Obesity... OMIM:612462
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Elevated urinary epinephrine, Cervical neoplasm, Elevated urinary vanillylmandelic... ORPHA:653
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Shigellosis
Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Urethritis, Acute kidney i... ORPHA:810
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyponatremia, Hyperkalemia, Hypokalemia ORPHA:682
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Cryptorchidism, Hydroureter OMIM:100100
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis OMIM:618161
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Oligomenorrhea,... OMIM:228300
Intellectual Developmental Disorder, Autosomal Dominant 42
Failure to thrive, Hydronephrosis OMIM:616973
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Aminoaciduria, Calcinosis, Hydronephrosis OMIM:617913
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Azoospermia, Nephrocalcinosis, Failure to thrive, Hematuria, Hypophosp... ORPHA:534
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Anuria, Elevated circ... ORPHA:90038
Alg8-Cdg
Failure to thrive, Hyponatremia, Small for gestational age ORPHA:79325
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hypogonadism, Low urinary cyclic AMP response to PTH administration, Obesity... OMIM:103580
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hydronephrosis, Abnormality of the uterus, Vaginal atresia, Micropenis, Abnormal... ORPHA:1655
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration... ORPHA:94089
Johanson-Blizzard Syndrome
Hypospadias, Hypoproteinemia, Hydronephrosis, Abnormal vagina morphology, Failure to thrive, Abno... ORPHA:2315
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con... ORPHA:449395
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Functioning Gonadotropic Adenoma
Oligospermia, Infertility, Macroorchidism, postpubertal, Amenorrhea, Abnormality of the menstrual... ORPHA:91348
Diabetic Embryopathy
Ureteral duplication, Hydronephrosis, Abnormal morphology of female internal genitalia, Renal hyp... ORPHA:1926
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Abnormal internal genitalia, Urogenital sinus anomaly, Displacement of the urethr... ORPHA:2973
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Hydronephrosis, Ureteral atresia OMIM:183802
Pituitary Apoplexy
Hyponatremia, Oligomenorrhea, Impotence, Hypergonadotropic hypogonadism ORPHA:95613
Recombinant Chromosome 8 Syndrome
Hydronephrosis, Cryptorchidism OMIM:179613
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm OMIM:614874
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis, Cryptorchidism OMIM:618060
Gapo Syndrome
Oligospermia, Dysmenorrhea, Amenorrhea, Nephrolithiasis, Hypogonadism ORPHA:2067
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis OMIM:616449
Gracile Bone Dysplasia
Failure to thrive, Micropenis, Hypocalcemia OMIM:602361
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemic tetany, Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypomag... ORPHA:73224
Endove Syndrome, Limb-Only Type
Hypoplastic labia majora, Hydronephrosis, Vesicoureteral reflux OMIM:619217
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Hydronephrosis, Cryptorchidism ORPHA:531151
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon... OMIM:613807
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hydronephrosis, Micropenis, Hypocalcemia, Cryptorchidism OMIM:235255
Familial Dysautonomia
Glomerulopathy, Hyponatremia, Renal insufficiency, Abnormality of the kidney ORPHA:1764
Wolfram Syndrome 1
Testicular atrophy, Hydronephrosis, Hydroureter, Neurogenic bladder OMIM:222300
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Abnormal morphology of female internal genitalia, Disp... ORPHA:3378
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Nephrolithiasis, Hypocalcemia ORPHA:93160
Alg12-Cdg
Hypospadias, Hyponatremia, Hypocholesterolemia, Failure to thrive, Pachygyria, Micropenis, Hypoal... ORPHA:79324
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Hydronephrosis, Failure to thrive, Neurogenic bladder OMIM:619218
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Fibrous Dysplasia Of Bone
Hypercalcemia, Precocious puberty in females, Hypophosphatemia, Ovarian cyst, Testicular neoplasm ORPHA:249
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, Abnormal external genitalia, Large for gestational age, Polycys... ORPHA:314588
Axial Mesodermal Dysplasia Spectrum
Hydronephrosis, Abnormality of the ureter, Abnormal morphology of female internal genitalia, Abno... ORPHA:1834
Distal Trisomy 6P
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis ORPHA:1745
Vacterl/Vater Association
Hypospadias, Hydronephrosis, Renal agenesis, Bifid scrotum, Abnormal morphology of female interna... ORPHA:887
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Hydronephrosis, Small for gestational age, Elevated circulating creatine kinase conc... OMIM:301056
Epidermolysis Bullosa Simplex With Pyloric Atresia
Hydronephrosis, Aplasia of the bladder, Elevated circulating creatine kinase concentration, Renal... ORPHA:158684
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Oligomenorrhea, Calcinosis, Hypocalcemic seizures, Hypocalcemia, Low urinary... ORPHA:79444
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Cryptorchidism, Unilateral renal agenesis OMIM:609757
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Increased circulatin... OMIM:603553
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Chromosome 2P16.1-P15 Deletion Syndrome
Hydronephrosis, Hypogonadism, Pachygyria, Micropenis, Cryptorchidism, Decreased testicular size OMIM:612513
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Weight loss, Hypoalbuminemia, Anoperineal fistula, Elevated circulating C-reactive... OMIM:619381
Igg4-Related Aortitis
Weight loss, Hydronephrosis, Elevated circulating C-reactive protein concentration ORPHA:449400
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney, Cryptorchidism ORPHA:1920
Williams Syndrome
Hypercalciuria, Abnormality of the bladder, Hypercalcemia, Renovascular hypertension, Nephrocalci... ORPHA:904
Micro Syndrome
Hypoplastic labia minora, Hydronephrosis, Hypoplasia of penis, Abnormal localization of kidney, P... ORPHA:2510
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hydronephrosis, Elevated circulating long chain fatty acid concentration, Failure to... OMIM:214100
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Amenorrhea, Weight loss, Nephrolithiasis, Impotence, Hypercalciuria, Decreased mal... ORPHA:652
Sanjad-Sakati Syndrome
Cryptorchidism, Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Suleiman-El-Hattab Syndrome
Failure to thrive, Hydronephrosis, Cryptorchidism OMIM:618950
Zellweger Syndrome
Hypospadias, Hydronephrosis, Failure to thrive, Clitoral hypertrophy, Multicystic kidney dysplasi... ORPHA:912
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased urinary cortisol level, Cervix cancer, Renal angiomyolipoma, Testicular ... ORPHA:276152
Bor Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob... ORPHA:107
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Failure to thrive, Hydronephrosis, Polymicrogyria ORPHA:488613
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis OMIM:220210
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Decreased urine output, Anuria, Acute kidney injury, Oliguria, Nephro... ORPHA:544482
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Cachexia, Failure to thrive, Weight loss, Hypercholesterolemia, Abnor... ORPHA:275761
Osteopetrosis, Autosomal Recessive 5
Absence of renal corticomedullary differentiation, Hyperbilirubinemia, Hypocalcemia OMIM:259720
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age ORPHA:391673
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypermagnesiuria, Hypercalciuria, Hyperphosphatemia ORPHA:428
Mastocytosis
Hypercalcemia ORPHA:98292
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypokalemia, Weight loss, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Eunuchoid habitus, Micropenis, Un... OMIM:308700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Micropenis, Small for gestational age, Hydronephrosis OMIM:616897
Tetraploidy
Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Polycystic kidn... ORPHA:731
Zollinger-Ellison Syndrome
Hypercalcemia, Increased urinary cortisol level, Weight loss ORPHA:913
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Small scrotum, Hydronephrosis, Hypoplasia of penis, Cryptorchidism ORPHA:2083
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Micropenis, Slender build, Hydronephrosis ORPHA:364028
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Hydronephrosis, Renal cyst, Polymicrogyria, Vesicoureteral reflux, Cryptorchidi... OMIM:618454
Holoprosencephaly
Abnormality of neuronal migration, Hyponatremia, Failure to thrive in infancy, Hypoplasia of peni... ORPHA:2162
Williams-Beuren Syndrome
Hypercalcemia, Renal hypoplasia, Failure to thrive in infancy, Urethral stenosis, Nephrocalcinosi... OMIM:194050
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Urogenital sinus anomaly, Micropenis, Abnormal sex determination, Male infertility, ... ORPHA:251510
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Hydronephrosis, Urethral stenosis ORPHA:1727
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemic seizures, Failure to thrive, Hypophosphatemia, Hypocalcemia ORPHA:289157
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hydronephrosis, Urinary bladder inflammation, Aplasia of the bladder, Renal dysplasia, Hematuria,... ORPHA:79403
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Cachexia, Hypokalemia, Hypocalcemia OMIM:175500
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:614935
Oncogenic Osteomalacia
Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Hypocalcemia ORPHA:352540
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Pachygyria, Hydronephrosis, Simplified gyral pattern OMIM:619179
Atresia Of Urethra
Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t... ORPHA:105
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular dysfunction, Decreased urine output, Hematuria, Renal tubular epithel... ORPHA:31826
Noonan Syndrome 4
Cryptorchidism, Ureteral duplication, Hydronephrosis, Large for gestational age OMIM:610733
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Hydronephrosis, Pachygyria, Hypoalbuminemia, Ectopic kidney, Cryptorchidism, Ve... OMIM:235510
Partial Androgen Insensitivity Syndrome
Hypospadias, Male sexual dysfunction, Aplasia of the uterus, Bifid scrotum, Fused labia majora, A... ORPHA:90797
Timothy Syndrome
Hypocalcemia OMIM:601005
Kleefstra Syndrome
Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Vesicoureteral reflux, Obesity, Cryptorchidi... ORPHA:261494
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Oligomenorrhea, Calcinosis, Hypocalcemic seizures, Hypocalcemia, Low urinary... ORPHA:79443
3C Syndrome
Abnormality of neuronal migration, Hydronephrosis, Hypoplasia of penis, Hypospadias ORPHA:7
Chromosome 17Q12 Deletion Syndrome
Renal hypoplasia, Hydronephrosis, Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina... OMIM:614527
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Hypocalcemia ORPHA:47
Goodpasture Syndrome
Macroscopic hematuria, Weight loss, Cylindruria, Increased blood urea nitrogen, Erythrocyte cylin... OMIM:233450
Sarcoidosis
Hypercalcemia, Tubulointerstitial nephritis, Nephrocalcinosis, Abnormal reproductive system morph... ORPHA:797
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating creatin... ORPHA:36234
Infant Botulism
Hyponatremia ORPHA:178478
Sotos Syndrome
Hypospadias, Hypercalcemia, Ureteral duplication, Hydronephrosis, Renal agenesis, Congenital post... ORPHA:821
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Mckusick-Kaufman Syndrome
Hydronephrosis, Failure to thrive, Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal ... ORPHA:2473
Vipoma
Hypercalcemia, Weight loss, Hypokalemia ORPHA:97282
Trisomy 17P
Urethral valve, Hydronephrosis, Urethral stenosis, Polycystic kidney dysplasia, Hypoplasia of penis ORPHA:261290
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Elevated circulating creatine kinase concentration, I... ORPHA:26793
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Oligomenorrhea, Hypogonadism, Amenorrhea ORPHA:91351
Trisomy 1Q
Hydronephrosis, Congenital megaureter, Small scrotum, Multicystic kidney dysplasia, Ambiguous gen... ORPHA:261344
Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis, Cryptorchidism, Hypocalcemia OMIM:300712
Trisomy 20P
Hypospadias, Macroorchidism, Hydronephrosis, Abnormality of the ureter, Abnormal localization of ... ORPHA:261318
Microphthalmia, Syndromic 9
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Renal malrotation, Pelvic kidney, Bicornuate ... OMIM:601186
Koolen-De Vries Syndrome
Hypospadias, Ureteral duplication, Hydronephrosis, Renal duplication, Vesicoureteral reflux, Cryp... ORPHA:96169
Carpenter Syndrome 1
Hydronephrosis, External genital hypoplasia, Obesity, Cryptorchidism, Hydroureter, Precocious pub... OMIM:201000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Failure to thrive in infancy, Tubulointerstitial nephritis, Cachexia,... ORPHA:37042
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Decreased serum zinc, Hydronephrosis, Duplicated collecting system ORPHA:541423
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Periventricular heterotopia OMIM:618476
Oeis Complex
Hydronephrosis, Renal agenesis, Bifid uterus, Vesicovaginal fistula, Pelvic kidney, Labial hypopl... OMIM:258040
Celiac Disease, Susceptibility To, 1
Failure to thrive, Weight loss, Infertility, Hypocalcemia OMIM:212750
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Hypoplastic female external genitalia, Renal dysplasia, Abnorma... ORPHA:99776
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Hydronephrosis, Renal dysplasia, Large for gestational age, Bladder trabecu... OMIM:614080
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Failure to thrive, Hypogonadism, Multicystic kidney dysplasia, Decreased testicul... ORPHA:261349
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Enlarged polycystic ovaries, Fused labia majora, Abnormality of the ur... ORPHA:95699
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Hyponatremia ORPHA:293978
Chondrodysplasia Punctata 2, X-Linked Dominant
Failure to thrive, Hydronephrosis, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol OMIM:302960
Ppoma
Hypercalcemia, Weight loss ORPHA:97278
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis, Hyperbilirubinemia, Micropenis, Hypocalcemia, Cryptorchidism ORPHA:163979
Severe Generalized Junctional Epidermolysis Bullosa
Ureteral obstruction, Hydronephrosis, Urinary retention, Failure to thrive, Aplasia/Hypoplasia of... ORPHA:79404
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Gitelman Syndrome
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Hypokal... ORPHA:358
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hydronephrosis, Abnormality of the male genitalia, Recurrent urinary tract infections, Ambiguous ... ORPHA:847
Netherton Syndrome
Ectopic kidney, Aminoaciduria, Hydronephrosis ORPHA:634
Marden-Walker Syndrome
Hypospadias, Hydronephrosis, Abnormal penis morphology, Renal agenesis, Abnormality of the urinar... ORPHA:2461
Cardiac Valvular Defect, Developmental
Urethral diverticulum, Hydronephrosis, Hydroureter OMIM:212093
Tarp Syndrome
Failure to thrive, Horseshoe kidney, Hydronephrosis OMIM:311900
Genitopatellar Syndrome
Hydronephrosis, Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Cryptorchidism ORPHA:85201
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Hydronephrosis, Vesicovaginal fistula, Rectovaginal fistula, Vaginal atresia, P... OMIM:236700
Congenital Disorder Of Glycosylation, Type Iie
Elevated circulating creatine kinase concentration, Hydronephrosis, Failure to thrive, Neurogenic... OMIM:608779
Somatostatinoma
Hypercalcemia, Weight loss ORPHA:97283
Erdheim-Chester Disease
Hydronephrosis, Weight loss, Hypogonadotropic hypogonadism, Dysuria, Renal insufficiency ORPHA:35687
Osteopetrosis With Renal Tubular Acidosis
Hydronephrosis, Elevated circulating creatine kinase concentration, Renal tubular acidosis, Failu... ORPHA:2785
Microphthalmia, Lenz Type
Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia, Cryptorchidism, Hydroureter ORPHA:568
Smith-Lemli-Opitz Syndrome
Hypospadias, Renal hypoplasia, Hydronephrosis, Renal agenesis, Bifid scrotum, Elevated 7-dehydroc... OMIM:270400
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Cryptorchidism ORPHA:457193
Penile Agenesis
Cystic renal dysplasia, Bilateral renal hypoplasia, Hydronephrosis, Absent penis, Urethral fistul... ORPHA:49
Granulomatosis With Polyangiitis
Hydronephrosis, Prostatitis, Hematuria, Weight loss, Proteinuria, Ureteral stenosis, Glomerulopat... ORPHA:900
Grfoma
Hypercalcemia, Weight loss ORPHA:97261
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Weight loss, Hypomagnesemia, Hypocalcemia ORPHA:90362
Acrodysostosis With Multiple Hormone Resistance
Hypospadias, Hypogonadism, Hypocalcemia, Obesity, Cryptorchidism, Hyperphosphatemia ORPHA:280651
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis, Cryptorchidism OMIM:613001
Diphallia
Hypospadias, Horseshoe kidney, Ureteral duplication, Renal malrotation, Bifid scrotum, Ectopic sc... ORPHA:227
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypospadias, Hydronephrosis, Renal agenesis, Micropenis, Cryptorchidism, Shawl scrotum OMIM:301040
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Hypospadias, Hydronephrosis, Small for gestational age, Failur... ORPHA:464311
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Hydronephrosis, Cryptorchidism OMIM:612541
Testicular Germ Cell Tumor
Elevated alpha-fetoprotein, Azoospermia OMIM:273300
Bloom Syndrome
Oligospermia, Small for gestational age, Azoospermia, Recurrent urinary tract infections, Male in... ORPHA:125
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Hydroureter, Failure to thrive, Pachygyria, Macrogyria, Polymicrogyria, Abnormali... ORPHA:2995
Glucagonoma
Hypercalcemia, Weight loss ORPHA:97280
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Clitoral hypoplasia, Small for gestational age, Failure to thrive OMIM:614813
Koolen-De Vries Syndrome
Hydronephrosis, Small for gestational age, Failure to thrive, Recurrent urinary tract infections,... OMIM:610443
Campomelic Dysplasia
Failure to thrive, Hydronephrosis, Sex reversal OMIM:114290
Pallister-Hall Syndrome
Renal hypoplasia, Hydronephrosis, Renal dysplasia, Renal cyst, Decreased testicular size, Micrope... OMIM:146510
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Congenital megaureter, Hydronephrosis, Ureteral agenesis ORPHA:2437
8P Inverted Duplication/Deletion Syndrome
Hydronephrosis, Abnormality of the urinary system, Micropenis, Cryptorchidism, Precocious puberty ORPHA:96092
46,Xx Sex Reversal 2
True hermaphroditism, Bifid scrotum, Sex reversal, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Hydronephrosis, Aplasia of the uterus, Urethral atresia, Abnormality of the urinary system, Absen... ORPHA:94095
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydronephrosis, Renal agenesis, Urethral stenosis, Renal dysplasia, Hypogonadotropic hypogonadism... OMIM:604292
Pearson Syndrome
Hypokalemia, Lacticaciduria, Small for gestational age, Hypophosphatemia, Renal cyst, Glycosuria,... ORPHA:699
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia OMIM:259700
Pelvis-Shoulder Dysplasia
Hydronephrosis, Ambiguous genitalia ORPHA:2839
Fryns Syndrome
Hypospadias, Hydronephrosis, Multicystic kidney dysplasia, Bicornuate uterus, Vesicoureteral refl... ORPHA:2059
Musculocontractural Ehlers-Danlos Syndrome
Horseshoe kidney, Hydronephrosis, Nephrolithiasis, Functional abnormality of the bladder, Cryptor... ORPHA:2953
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Obesity, Hydronephrosis, Precocious puberty OMIM:619269
Kabuki Syndrome
Hypospadias, Hydronephrosis, Failure to thrive, Abnormal localization of kidney, Duplicated colle... ORPHA:2322
Campomelic Dysplasia
Hydronephrosis, Ambiguous genitalia, Male pseudohermaphroditism ORPHA:140
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Cryptorchidism, Unilateral renal agenesis OMIM:616737
Mosaic Trisomy 8
Hydronephrosis, Decreased testicular size, Cryptorchidism, Vesicoureteral reflux ORPHA:96061
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Renal agenesis, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Renal h... OMIM:308050
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Azoospermia, Clitoral hypertrophy, Bicornuate ut... OMIM:400045
7Q11.23 Microduplication Syndrome
Hypospadias, Hydronephrosis, Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the ... ORPHA:96121
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Japanese Encephalitis
Hyponatremia ORPHA:79139
Duane-Radial Ray Syndrome
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Renal agenesis, Renal malrotation, Crossed fu... OMIM:607323
Feingold Syndrome Type 1
Horseshoe kidney, Hydronephrosis, Renal dysplasia, Nephritis, Vesicoureteral reflux, Renal insuff... ORPHA:391641
Cousin Syndrome
Ambiguous genitalia, male, Hydronephrosis, Ambiguous genitalia, female OMIM:260660
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Fetal megacystis, Megacystis OMIM:619362
Melnick-Needles Syndrome
Hydronephrosis, Vesicoureteral reflux ORPHA:2484
Baller-Gerold Syndrome
Hydronephrosis, Abnormality of the ureter, Failure to thrive in infancy, Abnormal localization of... ORPHA:1225
Chédiak-Higashi Syndrome
Hypoproteinemia, Increased circulating ferritin concentration, Hyponatremia, Hypertriglyceridemia ORPHA:167
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hydronephrosis, Failure to thrive, Abnormality of bladder morphology, Vesicoureteral reflux, Gray... ORPHA:453499
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Raine Syndrome
Hydronephrosis, Hydroureter, Hypophosphatemia OMIM:259775
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Renal agenesis ORPHA:1297
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Khan-Khan-Katsanis Syndrome
Failure to thrive, Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:618460
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Aplasia of the uterus, Urethral atresia, Absent external genitalia, Aplasia of th... OMIM:271520
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hydronephrosis, Pelvic kidney, Micropenis, Vesicoureteral reflux, Obesity, Cryptorchidism OMIM:618653
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Enuresis, Hyponatremia, Obesity, Hyperlipidemia ORPHA:293987
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Hydronephrosis, Small for gestational age, Failure to thrive, Pelvic kidney, Renal c... ORPHA:464306
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Thakker-Donnai Syndrome
Rectovaginal fistula, Hydronephrosis ORPHA:1780
1Q21.1 Microdeletion Syndrome
Failure to thrive, Hydronephrosis, Cryptorchidism, Vesicoureteral reflux ORPHA:250989
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive in infancy OMIM:618975
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia ORPHA:746
Pfeiffer Syndrome Type 3
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux ORPHA:93260
Tetrasomy 9P
Oligospermia, Horseshoe kidney, Hydronephrosis, Infertility, Renal dysplasia, Recurrent urinary t... ORPHA:3310
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Al-Gazali Syndrome