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 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... OMIM:616963
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Glucose-Galactose Malabsorption
Nephrolithiasis, Failure to thrive, Hematuria, Hypernatremia, Renal insufficiency, Hypercalcemia,... ORPHA:35710
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Webb-Dattani Syndrome
Hypernatremia, Hydronephrosis, Cryptorchidism, Vesicoureteral reflux, Neurogenic bladder OMIM:615926
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia ORPHA:2123
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Nephrogenic Diabetes Insipidus
Failure to thrive, Hyposthenuria, Hydroureter, Hypernatremia, Functional abnormality of the bladd... ORPHA:223
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Nephrocalcinosis OMIM:239199
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Failure to thrive, Polyuria, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Failure to thrive, Hypernatremia OMIM:304800
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Increased LDL cholesterol concentration, Decreased HDL cholesterol conc... OMIM:615703
Hypervitaminosis A, Susceptibility To
Renal insufficiency, Hypercalcemia OMIM:240150
2P21 Microdeletion Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Hypogonadism ORPHA:163693
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Hyperparathyroidism 4
Nephrolithiasis, Hypercalcemia OMIM:617343
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the uterus, Horsesh... OMIM:617805
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Precocious puberty, Hyponatremia, Cryptorchidism, Hyperkalemia, Renal salt was... OMIM:614736
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Infantil... ORPHA:99879
Hypercalcemia, Infantile, 1
Nephrolithiasis, Failure to thrive, Polyuria, Hypercalciuria, Infantile hypercalcemia, Weight los... OMIM:143880
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine ORPHA:94086
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia ORPHA:2668
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
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Adrenal Hypoplasia, Congenital
Failure to thrive, Precocious puberty, Hypogonadotropic hypogonadism, Oligospermia, Hyponatremia,... OMIM:300200
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia ORPHA:284400
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypospadias, Hypercalciuria, Hypercalcemia, Cryptorchidism OMIM:614732
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Increased blood urea nitrogen, Hypergonadotropic hypogona... OMIM:154230
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Male infertility, Hyperphosphatemia, Hypocalcemic s... ORPHA:2239
Rhabdoid Tumor
Renal neoplasm, Weight loss, Hematuria, Hypercalcemia ORPHA:69077
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Hydrocele testis, Nephrotic syndrome, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Prot... OMIM:613845
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Myoglobinuria, ... ORPHA:94093
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... OMIM:179800
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Image Syndrome
Hypospadias, Cryptorchidism, Hydronephrosis, Hypogonadism ORPHA:85173
Uremic Pruritus
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... ORPHA:94059
Macdermot-Winter Syndrome
Hydronephrosis, Hypoplastic male external genitalia OMIM:247990
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Azoospermia, Ambiguous... ORPHA:261529
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E... ORPHA:251004
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Orthostatic Hypotension 1
Nocturia, Hypomagnesemia, Increased blood urea nitrogen, Retrograde ejaculation OMIM:223360
Non-Functioning Paraganglioma
Elevated urinary dopamine, Hematuria, Weight loss, Hypercalcemia, Elevated urinary epinephrine, E... ORPHA:94080
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Elevated creatine kinase after exercise, Acute kidney injury, Hypercalcem... ORPHA:284426
Renal Hypoplasia
Chronic kidney disease, Small for gestational age, Unilateral renal agenesis, Abnormal renal tubu... ORPHA:93101
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Adamantinoma
Hypercalcemia ORPHA:55881
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Ambiguous genitalia, female, Decreased fertility in males, Ambiguous genitalia... ORPHA:90791
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... OMIM:601198
Central Diabetes Insipidus
Failure to thrive, Weight loss, Nocturia, Hyponatremia ORPHA:178029
Pyruvate Carboxylase Deficiency
Failure to thrive, Hyperlysinemia, Lacticaciduria, Hyperammonemia, Increased serum pyruvate, Hype... ORPHA:3008
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Failure to thrive, Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infection... OMIM:191800
Hypophosphatasia, Infantile
Failure to thrive, Elevated plasma pyrophosphate, Phosphoethanolaminuria, Hypercalciuria, Hyperca... OMIM:241500
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... ORPHA:85450
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:203400
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Failure to thrive, Chronic kidney disease, Hypophosphatemia, Hypokalemia... ORPHA:411634
Oculoskeletodental Syndrome
Hypocalcemia, Small for gestational age, Renal agenesis, Hypercalciuria, Mucopolysacchariduria, H... OMIM:618440
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:610600
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... OMIM:600740
Hereditary Coproporphyria
Dark urine, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Nephro... ORPHA:79273
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary... OMIM:300971
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, ... OMIM:602522
Hypocalciuric Hypercalcemia, Familial, Type Ii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci... OMIM:145981
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Hypocalciuric Hypercalcemia, Familial, Type I
Nephrolithiasis, Hypocalciuria, Hypercalciuria, Hypercalcemia, Hypermagnesemia OMIM:145980
Oculocerebrodental Syndrome
Hypocalcemia, Nephrocalcinosis, Hypercalcemia ORPHA:557003
Familial Glucocorticoid Deficiency
Failure to thrive, Precocious puberty, Cryptorchidism, Leydig cell neoplasia, Recurrent urinary t... ORPHA:361
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis, Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Acute Adrenal Insufficiency
Failure to thrive, Decreased female libido, Increased circulating renin level, Renal insufficienc... ORPHA:95409
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Precocious puberty, Impotence, Hyponatremia ORPHA:91354
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Dysmyelination With Jaundice
Hydroureter, Cryptorchidism, Hypoplasia of penis, Hydronephrosis OMIM:224250
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hypernatriuria, Decreased serum creatinine, Hyponatremia OMIM:300539
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Hypergonadotropic hypogonadism, Cys... OMIM:606407
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium... OMIM:613090
Hyperchlorhidrosis, Isolated
Failure to thrive, Hyperkalemia, Hyponatremia OMIM:143860
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Ob... ORPHA:399805
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Hypophosphatemia, Aminoaciduria, Polyuria, Hypercalciuria, Hypercalcemia, Calc... OMIM:239200
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Failure to thrive, Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:264350
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Oligospermia, Renal dysplasia, Pyelonephritis, Cryptorchidism OMIM:314300
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... OMIM:613496
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Increased circulating renin level, Hyponatremia, Renal sodium wasting, Hyperka... ORPHA:556037
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Pseudohypoparathyroidism, Type Ib
Obesity, Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Cystinosis, Nephropathic
Glycosuria, Hematuria, Proteinuria, Weight loss, Failure to thrive in infancy, Stage 5 chronic ki... OMIM:219800
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hyperxanthinemia, Hematuria, Uric ... ORPHA:3467
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Duplicated collecting system, Hydronephrosis OMIM:617093
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Abnormal renal morphology, Male infertility, Absent vas deferens, Obstructive azoos... ORPHA:48
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Weight loss, Proteinuria, Hypercalcemia, Elevated urinary e... ORPHA:276621
Familial Hypocalciuric Hypercalcemia
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Renal hyp... ORPHA:405
Parathyroid Carcinoma
Nephrolithiasis, Hypophosphatemia, Uterine leiomyoma, Nephroblastoma, Testicular neoplasm, Hyperc... ORPHA:143
Bartter Syndrome, Type 1, Antenatal
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Failure to thrive, Increased urinary potassi... OMIM:601678
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Increased circulating renin level, Hyponatremia, Renal sodium wasting, Hyperka... ORPHA:556030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Micropenis, Elevated circulating creatine kinase concentration, Renal dy... OMIM:615287
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Bartter Syndrome Type 4
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Impaired renal concentrating ability, Chroni... ORPHA:89938
Thymic Neuroendocrine Tumor
Weight loss, Hypercalcemia, Calcium nephrolithiasis ORPHA:97289
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... ORPHA:52901
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalciuria, Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis OMIM:156400
Alpha-Heavy Chain Disease
Hypocalcemia, Premature ovarian insufficiency ORPHA:100025
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrolithiasis, Hypophosphatemia, Nephroblastoma, Testicular neoplasm, Hypercalciuria, Renal cys... ORPHA:99880
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine OMIM:171420
Hartsfield Syndrome
Hypospadias, Cryptorchidism, Hypernatremia, Micropenis OMIM:615465
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polyuria, Hypokalemia, Hydronephrosis OMIM:304900
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormality of the Leydig cells, Increased circulating renin level, Clitoral hypertrophy, Abnorma... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormality of the Leydig cells, Increased circulating renin level, Clitoral hypertrophy, Abnorma... ORPHA:289548
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Xanthinuria, Type I
Xanthinuria, Hyperxanthinemia, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Multiple Myeloma
Nephrotic syndrome, Hyperproteinemia, Nephropathy, Elevated circulating creatinine concentration,... ORPHA:29073
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Cr... ORPHA:2704
Mirage Syndrome
Decreased body weight, Hypergonadotropic hypogonadism, Hypospadias, Recurrent urinary tract infec... OMIM:617053
Addison Disease
Failure to thrive, Decreased female libido, Increased circulating renin level, Hyponatremia, Hype... ORPHA:85138
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... ORPHA:320391
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... ORPHA:93110
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Primary amenorrhea, Hypercholesterolemia OMIM:612526
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hypertriglyceridemia, Hypoalbuminemia, H... OMIM:618183
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Retrograde ejaculation, Eleva... ORPHA:230
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... OMIM:274150
Monosomy 13Q34
Fetal pyelectasis, Infantile hypercalcemia, Obesity, Metrorrhagia ORPHA:96168
Lead Poisoning
Renal tubular dysfunction, Infertility, Chronic kidney disease, Decreased male libido, Increased ... ORPHA:330015
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Weight loss, Proteinuria, Hypercalcem... ORPHA:29072
Familial Hypoaldosteronism
Failure to thrive, Proximal renal tubular acidosis, Increased circulating renin level, Hyponatrem... ORPHA:427
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Renal cyst, Hydronephrosis, Cryptorchidism, Stage 5 chronic kidney d... OMIM:613390
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Renal agenesis, Aplasia/hypoplasia of the uterus, Renal dysplasia, Ectopic kid... ORPHA:2578
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Hyponatremia OMIM:618426
Infantile Myofibromatosis
Abnormality of the kidney, Hypercalcemia ORPHA:2591
Late-Onset Isolated Acth Deficiency
Failure to thrive, Hyponatremia, Hypercalcemia, Hyperuricemia, Weight loss, Premature ovarian ins... ORPHA:199299
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... OMIM:235400
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Renal insufficien... ORPHA:99845
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Failure to thrive in infancy, Hydronephrosis ORPHA:85285
Wolcott-Rallison Syndrome
Chronic kidney disease, Decreased body weight, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemi... ORPHA:1667
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Increased urinary porphobilinogen, Purple uri... ORPHA:100924
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Reduced sperm... OMIM:137920
Myopathy, Congenital, Progressive, With Scoliosis
Renal atrophy, Cryptorchidism, Hydronephrosis OMIM:618578
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Oliguria, Abnormal blood ion concent... ORPHA:31824
Cholera
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Abnormal blood ion concentration, Acut... ORPHA:173
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Renal dysplasia, Polyc... ORPHA:2237
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Congenital megaureter, Abnormality of the urinary system, Hypercalciuria, Ren... ORPHA:369837
Adenohypophysitis
Amenorrhea, Impotence, Decreased male libido, Hyposthenuria, Hyponatremia, Decreased female libido ORPHA:95512
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Polymicrogyria, Renal hypoplasia, Hydronephrosis, Cryptorchidism OMIM:618494
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis ORPHA:195
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, female, Abnormal external genitalia, Long penis, Ambiguous genitalia, Testic... ORPHA:90794
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Hypophosphatemic Rickets
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Precocious puberty, Hypocalciuria, ... ORPHA:437
Cockayne Syndrome Type 1
Failure to thrive, Increased blood urea nitrogen, Renal insufficiency, Proteinuria, Male hypogona... ORPHA:90321
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Snakebite Envenomation
Acute kidney injury, Hyponatremia ORPHA:449285
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Impotence, Increased blood urea nitrogen, Hemoglobinuria, Glycosuria, Dec... ORPHA:447
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level OMIM:177735
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Panhypophysitis
Amenorrhea, Impotence, Decreased male libido, Hyposthenuria, Hyponatremia, Decreased female libido ORPHA:95513
Pheochromocytoma
Elevated urinary norepinephrine, Proteinuria, Hypercalcemia, Renal artery stenosis OMIM:171300
Autoimmune Hypoparathyroidism
Hypocalcemia, Calcium nephrolithiasis, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic ... ORPHA:79473
47,Xyy Syndrome
Micropenis, Hypospadias, Oligospermia, Varicocele, Male infertility, Azoospermia, Cryptorchidism,... ORPHA:8
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Renal insufficiency, Hydronephrosis, Cryptorchidism, Failure to thrive in infancy OMIM:611209
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Hypercalcemia OMIM:602080
Sheehan Syndrome
Amenorrhea, Impotence, Dyspareunia, Hyposthenuria, Oligomenorrhea, Hyponatremia, Obesity, Decreas... ORPHA:91355
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Familial Isolated Hypoparathyroidism
Hypocalcemia, Nephropathy ORPHA:2238
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia, Urinary incontinence ORPHA:476126
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia, Weight loss, Failure to thrive in ... ORPHA:171876
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Hydronephrosis OMIM:619797
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Legionnaires Disease
Renal insufficiency, Proteinuria, Hematuria, Hyponatremia ORPHA:549
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decrease... OMIM:614837
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glomerular sclerosi... OMIM:223900
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Small for gestational age, Micropenis, Hypospadias, Cryptorchidi... OMIM:607143
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Decreased body weight, Vesicoureteral reflux, Hydronephrosis OMIM:618265
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia i... ORPHA:90790
Acute Intermittent Porphyria
Dark urine, Dysuria, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic aci... ORPHA:79276
Ring Chromosome 10 Syndrome
Cachexia, Renal hypoplasia/aplasia, Hypocalcemia ORPHA:1438
Whipple Disease
Cachexia, Erectile dysfunction, Hyponatremia ORPHA:3452
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Micropenis, Hyperphosphatemia, Cryptorchidism, Hypocalcemic seizures OMIM:241410
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... OMIM:267700
Generalized Glucocorticoid Resistance Syndrome
Infertility, Hypokalemia, Precocious puberty, Oligomenorrhea, Oligospermia, Ambiguous genitalia, ... ORPHA:786
Joubert Syndrome 37
Micropenis, Decreased testicular size, Hydronephrosis, Obesity, Cryptorchidism OMIM:619185
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism, Obesity, Low urinary cyclic AMP response to... OMIM:612462
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Elevated circulating long chain fatty acid concentration, Hyper... OMIM:608836
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Nephropathy, Renal insufficiency ORPHA:1563
Multiple Endocrine Neoplasia Type 2
Nephrolithiasis, Elevated urinary vanillylmandelic acid, Elevated urinary catecholamines, Hyperca... ORPHA:653
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Shigellosis
Urethritis, Abnormal blood ion concentration, Acute kidney injury, Hyponatremia, Failure to thriv... ORPHA:810
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia ORPHA:682
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Prune Belly Syndrome
Cryptorchidism, Hydroureter, Hydronephrosis, Urethral valve, Congenital posterior urethral valve OMIM:100100
Joubert Syndrome 35
Multicystic kidney dysplasia, Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Unilateral renal agenesis, Renal agenesis, Ectopic k... OMIM:601076
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Johanson-Blizzard Syndrome
Failure to thrive, Abnormal vagina morphology, Hypoplasia of penis, Hypoproteinemia, Hypospadias,... ORPHA:2315
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis OMIM:183802
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Alg8-Cdg
Failure to thrive, Hyponatremia, Small for gestational age ORPHA:79325
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hemoglobinuria, Elevated circulating creatinine concentration, Unconjugated hyperbil... ORPHA:90038
Oculocerebrorenal Syndrome Of Lowe
Nephrolithiasis, Failure to thrive, Hypophosphatemia, Hypokalemia, Oligosacchariduria, Aminoacidu... ORPHA:534
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Renal hypoplasia, Aminoaciduria, Hydronephrosis OMIM:617913
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia, Micropenis OMIM:602361
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Micropenis, Ovarian cyst, Hypogonadotropic hypogonadism, Abnormality o... OMIM:228300
Diabetic Embryopathy
Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Abnormal morphology of female interna... ORPHA:1926
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis OMIM:618060
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia, Anoperinea... OMIM:619381
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Low urinary cyclic A... ORPHA:94089
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Micropenis, Abnormal renal morphology, Abnormal fallopian tube mor... ORPHA:1655
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis OMIM:616449
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Hydronephrosis OMIM:179613
Igg4-Related Kidney Disease
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Urethritis, Ur... ORPHA:449395
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Cryptorchidism, Hydronephrosis OMIM:609757
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism, Obesity, Low urinary cyclic AMP response to... OMIM:103580
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Oligomenorrhea, Impotence, Hyponatremia ORPHA:95613
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Hydroureter, Multicystic kidney dysplasia, Ab... ORPHA:2973
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cryptorchidism, Hypoplasia of penis, Hydronephrosis, Small scrotum ORPHA:2083
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis, Hypoplastic labia majora OMIM:619217
Alg12-Cdg
Failure to thrive, Cryptorchidism, Micropenis, Hypospadias, Hypocholesterolemia, Hypoalbuminemia,... ORPHA:79324
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Gray matter heterotopia, Hydronephrosis ORPHA:531151
Distal Tetrasomy 15Q
Hydrocele testis, Abnormal external genitalia, Abnormality of the kidney, Nephroblastoma, Large f... ORPHA:314588
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Functioning Gonadotropic Adenoma
Amenorrhea, Infertility, Impotence, Ovarian cyst, Oligospermia, Abnormality of the menstrual cycl... ORPHA:91348
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Micropenis, Hydronephrosis, Cryptorchidism OMIM:235255
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Endove Syndrome, Limb-Brain Type
Failure to thrive, Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis OMIM:619218
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypercal... ORPHA:73224
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Familial Dysautonomia
Glomerulopathy, Abnormality of the kidney, Renal insufficiency, Hyponatremia ORPHA:1764
Trisomy 13
Abnormality of the ureter, Multiple renal cysts, Abnormal morphology of female internal genitalia... ORPHA:3378
Hypocalcemic Vitamin D-Resistant Rickets
Nephrolithiasis, Hypophosphatemia, Hypocalcemia ORPHA:93160
Wolfram Syndrome 1
Hydroureter, Testicular atrophy, Neurogenic bladder, Hydronephrosis OMIM:222300
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality of the urinary system, Abnormal ... ORPHA:1834
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Micropenis, Small for gestational age, Hypospadias, Elevated circulating creatine kinase concentr... OMIM:301056
Distal Trisomy 6P
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis ORPHA:1745
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hypophosphatemia, Ovarian cyst, Testicular neoplasm, Hypercalcemia ORPHA:249
Suleiman-El-Hattab Syndrome
Failure to thrive, Cryptorchidism, Hydronephrosis OMIM:618950
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypergonadotropic hypogonadism, Oligomenorrhea, Hypocalcemic tetany, Hyperphosphate... ORPHA:79444
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Williams Syndrome
Proteinuria, Polycystic ovaries, Failure to thrive in infancy, Nephrolithiasis, Bladder diverticu... ORPHA:904
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr... ORPHA:158684
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hypertriglyceri... OMIM:603553
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, Micropenis, Decreased testicular size, Hypogonadism, Hydronephrosis, Pachygyria OMIM:612513
Toluene Embryopathy
Cryptorchidism, Abnormal localization of kidney, Hydronephrosis ORPHA:1920
Vacterl/Vater Association
Hypoplasia of penis, Bifid scrotum, Renal agenesis, Hypospadias, Abnormality of the urethra, Mult... ORPHA:887
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Clitoral hypoplasia, Hypoplastic labia minora, Lissencephaly... ORPHA:2510
Gapo Syndrome
Nephrolithiasis, Amenorrhea, Dysmenorrhea, Oligospermia, Hypogonadism ORPHA:2067
Igg4-Related Aortitis
Weight loss, Elevated circulating C-reactive protein concentration, Hydronephrosis ORPHA:449400
Multiple Endocrine Neoplasia Type 4
Renal angiomyolipoma, Testicular neoplasm, Cervix cancer, Hypercalcemia, Increased urinary cortis... ORPHA:276152
Multiple Endocrine Neoplasia Type 1
Nephrolithiasis, Amenorrhea, Impotence, Decreased male libido, Hypercalciuria, Hypercalcemia, Wei... ORPHA:652
Bor Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal... ORPHA:107
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Failure to thrive, Polymicrogyria, Hydronephrosis ORPHA:488613
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Desmoid Tumor
Abnormality of the upper urinary tract, Hydronephrosis ORPHA:873
Zellweger Syndrome
Failure to thrive, Hypospadias, Multicystic kidney dysplasia, Polymicrogyria, Clitoral hypertroph... ORPHA:912
Sanjad-Sakati Syndrome
Cryptorchidism, Hypocalcemia, Hyperphosphatemia, Hypoplasia of penis ORPHA:2323
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Abnormal urine potassium concentration, Hypertriglyceridemia, Hypern... ORPHA:275761
Trisomy 1Q
Congenital megaureter, Multicystic kidney dysplasia, Ambiguous genitalia, Hydronephrosis, Cryptor... ORPHA:261344
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Nephrotic range proteinuria, Hyperkalemia, Oliguria, Acute kidney injury, Hyponatre... ORPHA:544482
Developmental Delay With Or Without Dysmorphic Facies And Autism
Polymicrogyria, Renal cyst, Renal hypoplasia, Hydronephrosis, Cryptorchidism, Vesicoureteral refl... OMIM:618454
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis OMIM:220210
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age ORPHA:391673
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Mastocytosis
Hypercalcemia ORPHA:98292
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:398063
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Small for gestational age, Hydronephrosis, Micropenis OMIM:616897
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia, Weight loss ORPHA:88673
Tetraploidy
Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Cryptorchidism, Hydronephrosis, Micropenis ORPHA:364028
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Weight loss, Hypercalcemia ORPHA:913
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypermagnesiuria, Nephrocalcinosis ORPHA:428
Autosomal Recessive Polycystic Kidney Disease
Reduced renal corticomedullary differentiation, Recurrent urinary tract infections, Enlarged kidn... ORPHA:731
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Peroxisome Biogenesis Disorder 1A (Zellweger)
Failure to thrive, Gray matter heterotopia, Aminoaciduria, Elevated circulating long chain fatty ... OMIM:214100
Holoprosencephaly
Hypoplasia of penis, Abnormality of the urinary system, Proteinuria, Hyponatremia, Abnormality of... ORPHA:2162
Myotonic Dystrophy 2
Oligospermia, Elevated circulating creatine kinase concentration, Hypogonadism OMIM:602668
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis ORPHA:1727
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Williams-Beuren Syndrome
Bladder diverticulum, Micropenis, Recurrent urinary tract infections, Hypercalciuria, Abnormal re... OMIM:194050
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Simplified gyral pattern, Hydronephrosis, Pachygyria OMIM:619179
Hypocalcemic Vitamin D-Dependent Rickets
Failure to thrive, Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria, Hypocalcemic seizures ORPHA:289157
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Junctional Epidermolysis Bullosa With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Urethral stricture, Hematuria, Renal duplication, Renal dysp... ORPHA:79403
Noonan Syndrome 4
Large for gestational age, Cryptorchidism, Ureteral duplication, Hydronephrosis OMIM:610733
Ethylene Glycol Poisoning
Renal tubular dysfunction, Hypocalcemia, Hematuria, Renal insufficiency, Decreased urine output, ... ORPHA:31826
Timothy Syndrome
Hypocalcemia OMIM:601005
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Hypocalcemia ORPHA:352540
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Sarcoidosis
Nephrolithiasis, Hypercalciuria, Tubulointerstitial nephritis, Renal insufficiency, Hypercalcemia... ORPHA:797
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Bladder fistula, Renal dysplasia, Renal insuffic... ORPHA:105
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Horseshoe kidney, Ectopic kidney, Hypoalbuminemia, Hydronephrosis, Pachygyria, Ve... OMIM:235510
Kleefstra Syndrome
Hypoplasia of penis, Micropenis, Hypospadias, Renal cyst, Renal insufficiency, Hydronephrosis, Ob... ORPHA:261494
Infant Botulism
Hyponatremia ORPHA:178478
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypergonadotropic hypogonadism, Oligomenorrhea, Hypocalcemic tetany, Hyperphosphate... ORPHA:79443
3C Syndrome
Abnormality of neuronal migration, Hypospadias, Hypoplasia of penis, Hydronephrosis ORPHA:7
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Hypocalcemia ORPHA:47
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Elevated circulating cr... ORPHA:26793
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Failure to thrive, Hydrocele testis, Hypocalcemia, ... OMIM:619991
Goodpasture Syndrome
Cylindruria, Increased blood urea nitrogen, Macroscopic hematuria, Glomerular crescent formation,... OMIM:233450
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Ovarian cyst, Multicystic kidney dysplasia, Hypoplasia of the bladder,... OMIM:614527
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Aplasia of the ovary, Blind vagina, Micropenis, Bifid scrotum, Hypospad... ORPHA:90797
Ciliary Dyskinesia, Primary, 15
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm OMIM:613808
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatine kinase concentration, Recurrent urinary tract infecti... ORPHA:36234
Sotos Syndrome
Hydrocele testis, Cryptorchidism, Renal agenesis, Hypospadias, Abnormality of the kidney, Uretera... ORPHA:821
Carpenter Syndrome 1
Precocious puberty, External genital hypoplasia, Hydroureter, Hydronephrosis, Obesity, Cryptorchi... OMIM:201000
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Koolen-De Vries Syndrome
Hypospadias, Renal duplication, Ureteral duplication, Hydronephrosis, Cryptorchidism, Vesicourete... ORPHA:96169
Vipoma
Weight loss, Hypokalemia, Hypercalcemia ORPHA:97282
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral stenosis, Hydronephrosis, Urethral valve ORPHA:261290
2P15P16.1 Microdeletion Syndrome
Failure to thrive, Multicystic kidney dysplasia, Decreased testicular size, Hydronephrosis, Hypog... ORPHA:261349
Mckusick-Kaufman Syndrome
Urogenital sinus anomaly, Failure to thrive, Renal hypoplasia/aplasia, Hydrometrocolpos, Glandula... ORPHA:2473
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Nephrotic syndrome, Cachexia, Decreased prealbumin level, Membranou... ORPHA:37042
Craniofacioskeletal Syndrome
Hypospadias, Cryptorchidism, Hypocalcemia, Hydronephrosis OMIM:300712
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hydronephrosis, Duplicated collecting system, Decreased serum zinc ORPHA:541423
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:601186
Trisomy 20P
Hypospadias, Abnormality of the ureter, Abnormality of the kidney, Multiple renal cysts, Abnormal... ORPHA:261318
Celiac Disease, Susceptibility To, 1
Failure to thrive, Weight loss, Hypocalcemia, Infertility OMIM:212750
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Hypocalcemia OMIM:618476
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydrocele testis, Ureteral hypoplasia, Bladder trabeculation, Ureteral duplication, Renal dysplas... OMIM:614080
Mosaic Trisomy 9
Hypoplasia of penis, Multiple renal cysts, Renal dysplasia, Abnormal fallopian tube morphology, A... ORPHA:99776
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Hyponatremia ORPHA:293978
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Netherton Syndrome
Ectopic kidney, Hydronephrosis, Aminoaciduria ORPHA:634
Ppoma
Weight loss, Hypercalcemia ORPHA:97278
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Micropenis, Hypospadias, Hydronephrosis, Cryptorchidism ORPHA:163979
Oeis Complex
Labial hypoplasia, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male,... OMIM:258040
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Failure to thrive, Ureterocele, Hydroureter, Ureteral obstruction, Urethral stricture, M... ORPHA:79404
Cardiac Valvular Dysplasia 1
Hydroureter, Hydronephrosis, Urethral diverticulum OMIM:212093
Gitelman Syndrome
Failure to thrive, Hypomagnesemia, Hypocalcemia, Hypokalemia, Renal tubular acidosis, Nocturia, F... ORPHA:358
Marden-Walker Syndrome
Failure to thrive, Renal hypoplasia/aplasia, Abnormal penis morphology, Hypospadias, Hydroureter,... ORPHA:2461
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Abnormality of the kidney, Male pseudohermaphroditism, Recurrent urinary tra... ORPHA:847
Genitopatellar Syndrome
Multicystic kidney dysplasia, Clitoral hypertrophy, Hydronephrosis, Cryptorchidism, Small scrotum ORPHA:85201
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Oligospermia, Hypogonadism ORPHA:91351
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Hydronephrosis ORPHA:457193
Congenital Disorder Of Glycosylation, Type Iie
Failure to thrive, Elevated circulating creatine kinase concentration, Neurogenic bladder, Hydron... OMIM:608779
Tarp Syndrome
Failure to thrive, Horseshoe kidney, Hydronephrosis OMIM:311900
Erdheim-Chester Disease
Dysuria, Hypogonadotropic hypogonadism, Renal insufficiency, Hydronephrosis, Weight loss ORPHA:35687
Chondrodysplasia Punctata 2, X-Linked Dominant
Failure to thrive, Hydronephrosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol OMIM:302960
Somatostatinoma
Weight loss, Hypercalcemia ORPHA:97283
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Osteopetrosis With Renal Tubular Acidosis
Nephrolithiasis, Failure to thrive, Hypocalcemia, Renal tubular acidosis, Proximal renal tubular ... ORPHA:2785
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydrometrocolpos, Hydroureter, Transverse vaginal septum, Polycystic kidne... OMIM:236700
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hypospadias, Hydroureter, Hydronephrosis, Cryptorchidism ORPHA:568
Grfoma
Weight loss, Hypercalcemia ORPHA:97261
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal external genitalia, Micropenis, Unilateral renal agenesis, Hypospadias, Abnormality of t... ORPHA:95699
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Cryptorchidism, Hydronephrosis OMIM:613001
Penile Agenesis
Urethral atresia, male, Urethral fistula, Cryptorchidism, Bilateral renal hypoplasia, Hydroureter... ORPHA:49
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:90362
Granulomatosis With Polyangiitis
Prostatitis, Elevated circulating C-reactive protein concentration, Ureteral stenosis, Hematuria,... ORPHA:900
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hypospadias, Hyperphosphatemia, Hypogonadism, Obesity, Cryptorchidism ORPHA:280651
Koolen-De Vries Syndrome
Failure to thrive, Gray matter heterotopia, Small for gestational age, Recurrent urinary tract in... OMIM:610443
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Micropenis, Unilateral renal agenesis, Hypospadias, Small for gestational age,... ORPHA:464311
Baraitser-Winter Cerebrofrontofacial Syndrome
Failure to thrive, Abnormality of the upper urinary tract, Hydroureter, Polymicrogyria, Lissencep... ORPHA:2995
Glucagonoma
Weight loss, Hypercalcemia ORPHA:97280
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Hydronephrosis, Ureteral agenesis, Congenital megaureter ORPHA:2437
Diphallia
Distal urethral duplication, Cryptorchidism, Bifid scrotum, Hypospadias, Rectoperineal fistula, U... ORPHA:227
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Lacticaciduria, Small for gestationa... ORPHA:699
Fryns Syndrome
Bicornuate uterus, Hypospadias, Multicystic kidney dysplasia, Hydronephrosis, Cryptorchidism, Ves... ORPHA:2059
Pallister-Hall Syndrome
Distal urethral duplication, Precocious puberty, Micropenis, Hydroureter, Renal dysplasia, Renal ... OMIM:146510
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Micropenis, Abnormality of the urinary system, Hydronephrosis, Cryptorchidism ORPHA:96092
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Horseshoe kidney, Hydronephrosis, Cryptor... ORPHA:2953
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Hydronephrosis ORPHA:2839
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia OMIM:259700
Mosaic Trisomy 8
Decreased testicular size, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis ORPHA:96061
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Hydronephrosis, Micropenis OMIM:617798
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hypospadias, Cryptorchidism, Hydronephrosis OMIM:616737
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Precocious puberty, Hydronephrosis, Moderate albuminuria OMIM:619269
Japanese Encephalitis
Hyponatremia ORPHA:79139
Kabuki Syndrome
Failure to thrive, Renal hypoplasia/aplasia, Precocious puberty, Hypoplasia of penis, Hypospadias... ORPHA:2322
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Bloom Syndrome
Abdominal obesity, Small for gestational age, Oligospermia, Recurrent urinary tract infections, N... ORPHA:125
Campomelic Dysplasia
Ambiguous genitalia, Male pseudohermaphroditism, Hydronephrosis ORPHA:140
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of bladder morphology, Failure to thrive, Gray matter heterotopia, Hydronephrosis, Cr... ORPHA:453499
Duane-Radial Ray Syndrome
Renal agenesis, Crossed fused renal ectopia, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:607323
7Q11.23 Microduplication Syndrome
Cryptorchidism, Unilateral renal agenesis, Hypospadias, Aplasia/hypoplasia of the uterus, Aplasia... ORPHA:96121
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Micropenis, Renal agenesis, Hypospadias, Shawl scrotum, Hydronephrosis, Cryptorchidism OMIM:301040
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Failure to thrive, Oligospermia, Clitoral hypoplasia, Small for gestational age OMIM:614813
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hydronephrosis ORPHA:1358
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Ambiguous genitalia, Small scrotum, Precocious puberty, Unilateral r... OMIM:270400
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia ORPHA:167
1Q21.1 Microdeletion Syndrome
Failure to thrive, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis ORPHA:250989
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Branchio-Oculo-Facial Syndrome
Renal agenesis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1297
Feingold Syndrome Type 1
Nephritis, Abnormality of the kidney, Renal dysplasia, Horseshoe kidney, Renal insufficiency, Hyd... ORPHA:391641
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Megacystis, Hydroureter, Hydronephrosis, Fetal megacystis OMIM:619362
Baller-Gerold Syndrome
Abnormality of the ureter, Abnormal localization of kidney, Hydronephrosis, Vesicoureteral reflux... ORPHA:1225
Cousin Syndrome
Ambiguous genitalia, female, Ambiguous genitalia, male, Hydronephrosis OMIM:260660
Khan-Khan-Katsanis Syndrome
Failure to thrive, Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:618460
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Ovotestis, Clitoral hypertrophy, True hermaphroditi... OMIM:400045
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Bladder diverticulum, Ureterocele, Micropenis, Hypogonadotropic hypogonadism, Hydroureter, Renal ... OMIM:604292
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Nijmegen Breakage Syndrome
Premature ovarian insufficiency, Recurrent urinary tract infections, Hydronephrosis OMIM:251260
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Hydronephrosis, Aplasia of the uterus, Aplasia of th... OMIM:271520
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obesity, Hyperlipidemia, Hyponatremia, Enuresis ORPHA:293987
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Micropenis, Unilateral renal agenesis, Hypospadias, Small for gestational age,... ORPHA:464306
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Micropenis, Hydronephrosis, Pelvic kidney, Obesity, Cryptorchidism, Vesicoureteral reflux OMIM:618653
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Ureteropelvic junction obstruction, Renal hypoplasia, Failure to thrive in infancy, Hydronephrosis OMIM:618975
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Thakker-Donnai Syndrome
Rectovaginal fistula, Hydronephrosis ORPHA:1780
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydroureter, Hydronephrosis OMIM:619431
Al-Gazali Syndrome
Failure to thrive, Hydronephrosis OMIM:609465
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Horseshoe kidney, Hydronephrosis ORPHA:93260
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Failure to thrive in infancy ORPHA:746
Trisomy 18
Cachexia, Abnormality of the upper urinary tract, Abnormal morphology of female internal genitali... ORPHA:3380
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Hydronephrosis OMIM:614921
Cerebellar-Facial-Dental Syndrome
Failure to thrive, Ureteropelvic junction obstruction, Cryptorchidism, Hydronephrosis ORPHA:444072
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormal cortical gyration, Hydronephrosis, Renal dysplasia OMIM:300968
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
15Q Overgrowth Syndrome
Nephroblastoma, Abnormal renal morphology, Horseshoe kidney, Ureterovesical stenosis, Hydronephrosis ORPHA:314585
Raine Syndrome
Hydroureter, Hypophosphatemia, Hydronephrosis OMIM:259775
Opitz Gbbb Syndrome
Bicornuate uterus, Bifid scrotum, Hypospadias, Abnormality of the urinary system, Enlarged ovarie... ORPHA:2745
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Bladder diverticulum, Ureterocele, Micropenis, Hypogonadotropic hypogonadism, Hydroureter, Renal ... OMIM:129900
Otopalatodigital Syndrome Type 2
Hypospadias, Ureteral obstruction, Failure to thrive, Hydronephrosis ORPHA:90652
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydrocele testis, Unilateral renal dysplasia, Congenital megaureter, Elevated alpha-fetoprotein, ... ORPHA:280633
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Schinzel-Giedion Midface Retraction Syndrome