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
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hypopho... OMIM:616963
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Glucose-Galactose Malabsorption
Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H... ORPHA:35710
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Weight loss, Hy... OMIM:143880
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ... OMIM:614817
Granulomatous Slack Skin
Acute kidney injury, Hypercalcemia, Nephrocalcinosis ORPHA:33111
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Webb-Dattani Syndrome
Obesity, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Neurogenic bladder, Hyposthenuria... OMIM:615926
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Abnormal vagina morphology, Renal insufficiency, Renal hypoplasia/aplasia ORPHA:2123
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia OMIM:239199
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Hydroureter, Failure to thrive, Functional abnormality of the bladder, Renal i... ORPHA:223
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Failure to thrive, Hypernatremia, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Megacystis, Failure to thrive, Hypernatremia, Polyuria OMIM:304800
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Azoosp... OMIM:615703
2P21 Microdeletion Syndrome
Failure to thrive, Hypogonadism, Hypocalcemia, Nephrolithiasis, Cystinuria ORPHA:163693
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico... OMIM:617805
Blue Diaper Syndrome
Nephrocalcinosis, Hyperphosphatemia, Increased body weight, Blue urine, Hypercalcemia ORPHA:94086
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Hypercalcemia, Renal insufficiency ORPHA:2668
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
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 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Small Cell Carcinoma Of The Bladder
Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections ORPHA:284400
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Azoospermia, Cryptorchidism, Hyponatremia, Hypogonadotropi... OMIM:300200
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Cryptorchidism, Hypercalciuria, Micropenis, Hypospadias OMIM:614732
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney... OMIM:145001
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... ORPHA:99879
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia,... OMIM:613845
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Failure to thrive, Beta 2-microglobulinuria, ... ORPHA:97362
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur... OMIM:617872
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa... OMIM:620085
46,Xy Sex Reversal 4
Renal dysplasia, Gonadal dysgenesis, Elevated circulating creatinine concentration, Ureteropelvic... OMIM:154230
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Igg4-Related Retroperitoneal Fibrosis
Varicocele, Acute kidney injury, Impotence, Elevated circulating creatinine concentration, Unilat... ORPHA:49041
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures, Male infe... ORPHA:2239
Rhabdoid Tumor
Hematuria, Weight loss, Hypercalcemia, Renal neoplasm ORPHA:69077
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated cir... ORPHA:94093
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H... OMIM:179800
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ... ORPHA:94059
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Weight loss, E... ORPHA:94080
Macdermot-Winter Syndrome
Hydronephrosis, Hypoplastic male external genitalia OMIM:247990
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Retrograde ejaculation, Nocturia, Elevated circula... OMIM:223360
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Cryptorchidism, Hyponatremia, Renal salt wasting, Hyperkal... OMIM:614736
Image Syndrome
Hydronephrosis, Hypospadias, Cryptorchidism, Hypogonadism ORPHA:85173
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Hypercalcemia, Eleva... ORPHA:284426
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Proteinuria, Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative... ORPHA:251004
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Hyperammonemia, Hyperglutamatemia, Hyperprolinemi... ORPHA:3008
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hypogonadism, Obesity, External genital hypoplasia, Renal insufficiency, Hydron... OMIM:615996
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Central Diabetes Insipidus
Hyponatremia, Weight loss, Failure to thrive, Nocturia ORPHA:178029
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Adamantinoma
Hypercalcemia ORPHA:55881
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Failure to thrive, Abnormal labia majora morphology, Decreased testicular s... ORPHA:90791
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret... OMIM:191800
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Oculoskeletodental Syndrome
Renal agenesis, Hypocalcemia, Cryptorchidism, Hypercalciuria, Mucopolysacchariduria, Hypercalcemi... OMIM:618440
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... OMIM:600740
Hypophosphatasia, Infantile
Nephrocalcinosis, Failure to thrive, Phosphoethanolaminuria, Elevated plasma pyrophosphate, Hyper... OMIM:241500
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Spermatocele, Male infertility, Nephrolithiasis OMIM:301060
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Renal interstitial amyloid deposits, Hyp... ORPHA:85450
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia ORPHA:557003
Juvenile Nephropathic Cystinosis
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath... ORPHA:411634
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... OMIM:145981
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:203400
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Impotence, Oligomenorrhea, Precocious puberty ORPHA:91354
Hereditary Coproporphyria
Nephropathy, Dark urine, Abnormal circulating porphyrin concentration, Increased urinary porphobi... ORPHA:79273
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Hypercalcemia OMIM:145980
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:610600
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Failure to thrive, Hypernatriuria, Recurrent urinary t... ORPHA:361
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Acute Adrenal Insufficiency
Failure to thrive, Renal insufficiency, Decreased female libido, Hyperuricemia, Hyponatremia, Dec... ORPHA:95409
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Failure to thrive, Hypocalcemia, Nephrolithiasis, Cystinuria, Hypergonadotr... OMIM:606407
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal... OMIM:211900
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia, Failure to thrive OMIM:143860
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W... ORPHA:276621
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Failure to thrive OMIM:264350
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Failure to thrive, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Polyuria, ... OMIM:239200
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hypernatriuria, Decreased glomerular filtration rate, Renal ... OMIM:613090
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Male inf... OMIM:219800
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Cryptorchidism, Hydronephr... OMIM:236730
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hereditary Xanthinuria
Hypouricemia, Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, I... ORPHA:3467
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Unilateral renal atrophy, Pyelonephritis, Cryptorchidism, Oligozoospermia, Renal dyspl... OMIM:314300
Bartter Syndrome, Type 1, Antenatal
Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, ... OMIM:601678
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Male in... ORPHA:48
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Weight loss, Hypercalcemia ORPHA:97289
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin ... ORPHA:556037
Monosomy 13Q34
Obesity, Hypercalcemia, Metrorrhagia, Fetal pyelectasis ORPHA:96168
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia, Polyuria, Nephrolithiasis OMIM:617994
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Hypernatremia OMIM:615508
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Clitoral hypertrophy, Fused labia minora, Elevated urinary 5-amino-4-imidazolecarbo... OMIM:608688
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin ... ORPHA:556030
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hypernatriuria, Decreased glomerular filtration rate, Reduce... OMIM:602522
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria, Hypophosphatemia, Hypercalcemia OMIM:156400
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:143
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Weight loss, Nep... ORPHA:29073
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Small for gestational age, Nephrocalcinosis, Failure... ORPHA:89938
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho... ORPHA:405
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W... ORPHA:29072
Xanthinuria, Type I
Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin... OMIM:278300
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Delayed menarche, Azoospermia, Decreased testicular size, Decreased female lib... ORPHA:52901
Lipodystrophy, Congenital Generalized, Type 3
Primary amenorrhea, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormal circulating cholesterol concentration, Abnor... ORPHA:168558
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Ob... OMIM:612462
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Ectopic kidney,... ORPHA:2578
Addison Disease
Failure to thrive, Decreased female libido, Hyperuricemia, Premature ovarian insufficiency, Hypon... ORPHA:85138
Mirage Syndrome
Microphallus, Recurrent urinary tract infections, Decreased testicular size, Cryptorchidism, Decr... OMIM:617053
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormal circulating cholesterol concentration, Abnor... ORPHA:289548
Lead Poisoning
Chronic kidney disease, Decreased male libido, Reduced sperm motility, Abnormality of the menstru... ORPHA:330015
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u... ORPHA:230
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:99880
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Microphallus, Bifid scrotum, Absent scrotum, Cryptorchidism, Hyponatremia, Male pseudohermaphrodi... OMIM:201810
Late-Onset Isolated Acth Deficiency
Failure to thrive, Hyperuricemia, Hyponatremia, Weight loss, Premature ovarian insufficiency, Hyp... ORPHA:199299
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Hematuria, Increased blood urea nitrogen, ... ORPHA:231111
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... OMIM:274150
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Decreased testicular size, Abnormal sperm head morphology, Reduced sperm motility, U... ORPHA:320391
Infantile Myofibromatosis
Hypercalcemia, Abnormality of the kidney ORPHA:2591
X-Linked Intellectual Disability, Schimke Type
Failure to thrive in infancy, Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorchidism, Hydronephrosis, Rena... OMIM:613390
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Generalized Pustular Psoriasis
Hypoalbuminemia, Obesity, Renal insufficiency, Hypocalcemia, Hyponatremia, Elevated circulating C... ORPHA:247353
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Re... ORPHA:427
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... OMIM:235400
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Wolcott-Rallison Syndrome
Hypoalbuminemia, Chronic kidney disease, Hyperbilirubinemia, Renal insufficiency, Hyperammonemia,... ORPHA:1667
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Cryptorchidism, Hyponatremia, Polyuria, Hypertrigl... OMIM:618183
Congenital Myopathy 19
Hydronephrosis, Renal atrophy, Cryptorchidism OMIM:618578
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Hypokalem... OMIM:617913
Hartsfield Syndrome
Micropenis, Hypospadias, Cryptorchidism, Hypernatremia OMIM:615465
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Nephrocalcinosis, Abnormality of the urinary system, Obesity, Renal cyst, Hyp... ORPHA:369837
Spinal Cord Injury
Hypercalcemia, Urinary retention, Urinary bladder sphincter dysfunction ORPHA:90058
Porphyria Due To Ala Dehydratase Deficiency
Purple urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concentration, Hy... ORPHA:100924
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Uterus didelphys, Septate vagina, Renal insufficiency, Hypocalcemia, V... ORPHA:2237
Adenohypophysitis
Decreased male libido, Decreased female libido, Hyponatremia, Amenorrhea, Hyposthenuria, Impotence ORPHA:95512
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycinemia, Hypernatremia OMIM:620423
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Colchicine Poisoning
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp... ORPHA:31824
Cholera
Acute kidney injury, Hypocalcemia, Hypokalemia, Hyponatremia, Decreased urine output, Abnormal bl... ORPHA:173
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Cockayne Syndrome Type 1
Male hypogonadism, Failure to thrive, Renal insufficiency, Cryptorchidism, Proteinuria, Increased... ORPHA:90321
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Hypogonadism, Obesity, Hydronephrosis, Vaginal atresia, Cystic ren... OMIM:615989
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Snakebite Envenomation
Hyponatremia, Acute kidney injury ORPHA:449285
Pheochromocytoma
Proteinuria, Renal artery stenosis, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... OMIM:137920
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Decreased fertility, Weight loss, Renal salt wasting, Hyperkalemia, Decreas... ORPHA:90794
Panhypophysitis
Decreased male libido, Decreased female libido, Hyponatremia, Amenorrhea, Hyposthenuria, Impotence ORPHA:95513
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... ORPHA:447
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Failure to thrive ORPHA:172
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Hydroxyprolinuria OMIM:602080
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent... ORPHA:79473
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm... OMIM:602390
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level OMIM:177735
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Micropenis, Macroorchidism, Hypospadias... ORPHA:8
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Cryptorchidism OMIM:619797
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... OMIM:223900
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Hypercalcemia, Failure to thrive ORPHA:476126
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Failure to thrive, Cryptorchidism, Hydronephrosis, Small for gestation... OMIM:609757
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Sheehan Syndrome
Obesity, Decreased female libido, Hyponatremia, Amenorrhea, Oligomenorrhea, Hyposthenuria, Dyspar... ORPHA:91355
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Hyponatremia, Weight loss, Hyperkalemia, Increased circulating reni... ORPHA:171876
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Legionnaires Disease
Hyponatremia, Hematuria, Renal insufficiency, Proteinuria ORPHA:549
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Joubert Syndrome 37
Decreased testicular size, Obesity, Cryptorchidism, Hydronephrosis, Micropenis OMIM:619185
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Increased total bilirubin, Polymicrogyria, Elevated circulating creatinine conce... OMIM:608836
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uter... OMIM:601076
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Hyperammonemia, Hydronephrosis, Decreased serum zinc, Duplica... OMIM:617093
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Failure to thrive OMIM:620157
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Abnormal female external genitalia morphology, Endometrial carcinoma, Hyponatr... ORPHA:90790
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia ORPHA:1563
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Whipple Disease
Hyponatremia, Cachexia, Erectile dysfunction ORPHA:3452
Multiple Endocrine Neoplasia Type 2
Elevated urinary norepinephrine level, Cervical neoplasm, Elevated urinary vanillylmandelic acid,... ORPHA:653
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem... ORPHA:79276
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Increased urinary cortisol level, Female pseudohermaphroditism, Hypokalemia, ... ORPHA:786
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Anoperineal fistula, Weight loss, Elevated circulating C-reactive protein concen... OMIM:619381
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Cryptorchidism, Congenital posterior urethral valve OMIM:100100
Johanson-Blizzard Syndrome
Failure to thrive, Abnormal vagina morphology, Hydronephrosis, Abnormality of the female genitali... ORPHA:2315
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Hypocalcemia, Cryptorchidism, Hydronephrosis, Abnormal renal morpholog... ORPHA:1655
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Polymicrogyria, Cryptorchidism, Hydronephrosis OMIM:618494
Alg8-Cdg
Hyponatremia, Small for gestational age, Failure to thrive ORPHA:79325
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Cryptorchidism, Micropenis, Hypocalcemic seizures OMIM:241410
Recombinant Chromosome 8 Syndrome
Hydronephrosis, Cryptorchidism OMIM:179613
Oculocerebrorenal Syndrome Of Lowe
Proximal renal tubular acidosis, Aminoaciduria, Nephrocalcinosis, Failure to thrive, Oligosacchar... ORPHA:534
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Gracile Bone Dysplasia
Micropenis, Hypocalcemia, Failure to thrive OMIM:602361
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis, Cryptorchidism OMIM:618060
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy... ORPHA:94089
Diabetic Embryopathy
Abnormal morphology of female internal genitalia, Cryptorchidism, Renal hypoplasia/aplasia, Hydro... ORPHA:1926
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... ORPHA:90038
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Female pseudohermaphroditi... ORPHA:2973
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Large for gestational age, Nephroblastoma, Hydr... ORPHA:314588
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Hematuria, Prostatitis, Weight loss, Elevated circulating C-r... ORPHA:449395
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Vesicoureteral reflux, Cryptorchidism, Elevated circulating creatin... OMIM:301056
Shigellosis
Acute kidney injury, Failure to thrive in infancy, Urethritis, Hyponatremia, Abnormal blood ion c... ORPHA:810
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Ob... OMIM:103580
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Patent urachus, Small for gestational age, Failure to thrive OMIM:618252
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections OMIM:619218
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Small scrotum, Hypoplasia of penis, Cryptorchidism ORPHA:2083
Endove Syndrome, Limb-Only Type
Hydronephrosis, Hypoplastic labia majora, Vesicoureteral reflux OMIM:619217
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Gray matter heterotopia, Cryptorchidism ORPHA:531151
Suleiman-El-Hattab Syndrome
Hydronephrosis, Failure to thrive, Cryptorchidism OMIM:618950
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Failure to thrive, Hypocalcemia, Cryptorchidism, Micropenis, Hypospadias, Small fo... OMIM:607143
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Pachygyria, Hypocholesterolemia, Cryptorchidism, Hyponatremia... ORPHA:79324
Fibrous Dysplasia Of Bone
Precocious puberty in females, Ovarian cyst, Hypophosphatemia, Testicular neoplasm, Hypercalcemia ORPHA:249
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux, Decreased body weight OMIM:618265
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney ORPHA:1764
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased circulating ferritin con... OMIM:603553
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Pituitary Apoplexy
Hyponatremia, Impotence, Oligomenorrhea, Hypergonadotropic hypogonadism ORPHA:95613
Williams Syndrome
Cryptorchidism, Polycystic ovaries, Precocious puberty, Failure to thrive in infancy, Obesity, Re... ORPHA:904
Functioning Gonadotropic Adenoma
Abnormality of the menstrual cycle, Decreased female libido, Ovarian cyst, Enlarged polycystic ov... ORPHA:91348
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hypocalcemic tetany, Hypocal... ORPHA:73224
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Cryptorchidism, Hydronephrosis, Micropenis, Hypoproteinemia OMIM:235255
Wolfram Syndrome 1
Hydronephrosis, Neurogenic bladder, Hydroureter, Testicular atrophy OMIM:222300
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal morphology of female internal genitalia, Abnormality ... ORPHA:1834
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney, Cryptorchidism ORPHA:1920
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Nephrolithiasis ORPHA:93160
Trisomy 13
Abnormal morphology of female internal genitalia, Abnormality of the ureter, Cryptorchidism, Disp... ORPHA:3378
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive OMIM:613735
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Failure to thrive, Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Weight loss, Hydronephrosis ORPHA:449400
Distal Duplication 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Micro Syndrome
Lissencephaly, Abnormal localization of kidney, Cryptorchidism, Hydronephrosis, Pachygyria, Hypop... ORPHA:2510
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Bifid scrotum, Abnormal... ORPHA:887
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Small scrotum, Decreased testicular size, Azoospermia, Eunuchoid habit... OMIM:308700
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Multiple Endocrine Neoplasia Type 1
Impotence, Decreased male libido, Nephrolithiasis, Amenorrhea, Hypercalciuria, Weight loss, Hyper... ORPHA:652
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Ob... ORPHA:79444
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydronephrosis, Micropenis, Hypospadias, Small for gestational age OMIM:616897
Lysosomal Acid Lipase Deficiency
Failure to thrive, Hypernatriuria, Abnormal urine potassium concentration, Hyponatremia, Cachexia... ORPHA:275761
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis, Failure to thrive, Polymicrogyria ORPHA:488613
Zellweger Syndrome
Multicystic kidney dysplasia, Clitoral hypertrophy, Failure to thrive, Polymicrogyria, Cryptorchi... ORPHA:912
Chromosome 2P16.1-P15 Deletion Syndrome
Pachygyria, Hypogonadism, Decreased testicular size, Cryptorchidism, Hydronephrosis, Micropenis OMIM:612513
Gapo Syndrome
Hypogonadism, Dysmenorrhea, Nephrolithiasis, Amenorrhea, Oligozoospermia ORPHA:2067
Multiple Endocrine Neoplasia Type 4
Increased urinary cortisol level, Renal angiomyolipoma, Testicular neoplasm, Cervix cancer, Hyper... ORPHA:276152
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Azoospermia, Decreased testicular size, Eunuchoid... ORPHA:432
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Slender build, Hydronephrosis, Cryptorchidism ORPHA:364028
Trisomy 1Q
Small scrotum, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Ambiguous genitalia,... ORPHA:261344
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypermagnesiuria ORPHA:428
Sanjad-Sakati Syndrome
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia, Cryptorchidism ORPHA:2323
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
22Q11.2 Duplication Syndrome
Hydronephrosis, Urethral stenosis, Displacement of the urethral meatus ORPHA:1727
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Hypoproteinemia ORPHA:398063
Rabin-Pappas Syndrome
Hyponatremia, Failure to thrive in infancy, Obesity OMIM:620155
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Hypospadias OMIM:220210
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Anuria, Hypocalcemia, Hyponatremia, Decreased urine output, Nephro... ORPHA:544482
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypogonadism, Azoospermia, Elevated hepatic iron co... OMIM:615234
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis, Cryptorchidism, Dysgyria OMIM:620327
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Obesity, Multicystic kidney dysplasia OMIM:620511
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Clitoral hypertrophy, Failure to thrive, Polymicrogyria, Cryptorchidism, Hydroneph... OMIM:214100
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Abnormal vagina morphology, Streak ovary, Abnormal labia morphology, Abnorm... ORPHA:251510
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614897
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis, Hypercholesterolemia, Hyperammonemia OMIM:620454
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia, Elevated circulating creatine kinase concentration OMIM:602668
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis ORPHA:261290
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Cachexia, Hypocalcemia, Hypomagnesemia OMIM:175500
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Williams-Beuren Syndrome
Renal hypoplasia, Enuresis, Nephrocalcinosis, Recurrent urinary tract infections, Failure to thri... OMIM:194050
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Congenital Disorder Of Glycosylation, Type Iig
Failure to thrive in infancy, Renal insufficiency, Cryptorchidism, Hydronephrosis, Hypospadias, H... OMIM:611209
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Sarcoidosis
Nephrocalcinosis, Renal insufficiency, Nephrolithiasis, Abnormal reproductive system morphology, ... ORPHA:797
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... ORPHA:90797
Oncogenic Osteomalacia
Renal phosphate wasting, Hypophosphatemia, Hypocalcemia, Hyperphosphaturia ORPHA:352540
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Reduced renal corticomedullary... ORPHA:731
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Weight loss, Hypercalcemia ORPHA:913
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis, Simplified gyral pattern, Failure to thrive, Pachygyria OMIM:619179
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Septat... OMIM:300707
Ethylene Glycol Poisoning
Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Decreased urine output, ... ORPHA:31826
Noonan Syndrome 4
Hydronephrosis, Ureteral duplication, Large for gestational age, Cryptorchidism OMIM:610733
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Horseshoe kidney, Cryp... OMIM:201750
Kleefstra Syndrome
Obesity, Vesicoureteral reflux, Renal insufficiency, Cryptorchidism, Hydronephrosis, Renal cyst, ... ORPHA:261494
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia, Failure to thrive OMIM:600081
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age ORPHA:391673
Holoprosencephaly
Abnormality of the urinary system, Failure to thrive in infancy, Cryptorchidism, Hyponatremia, Pr... ORPHA:2162
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Obesity, Hyperammonemia, Hypocalcemia, Elevated circ... ORPHA:26793
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Failure to thrive, Hydrometrocolpos, Glandular hypospadias, Cryptor... ORPHA:2473
X-Linked Agammaglobulinemia
Weight loss, Hypocalcemia, Failure to thrive ORPHA:47
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Pachygy... OMIM:235510
Sotos Syndrome
Renal agenesis, Hypercalcemia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction... ORPHA:821
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Nephrotic syndrome, Hypomagnesemia, Failure to thrive in infancy, Hypocalcemia, ... ORPHA:37042
Celiac Disease, Susceptibility To, 1
Infertility, Weight loss, Hypocalcemia, Failure to thrive OMIM:212750
Carpenter Syndrome 1
Precocious puberty, Hydroureter, Obesity, External genital hypoplasia, Cryptorchidism, Hydronephr... OMIM:201000
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Ob... ORPHA:79443
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Recurrent urinary tract infections, Elevated circulating creatinine concentratio... ORPHA:36234
3C Syndrome
Hydronephrosis, Hypoplasia of penis, Hypospadias, Abnormality of neuronal migration ORPHA:7
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hydronephrosis, Duplicated collecting system, Decreased serum zinc ORPHA:541423
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Koolen-De Vries Syndrome
Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hydronephrosis, Ureteral duplication, H... ORPHA:96169
ERI1-related disease
Failure to thrive, Vesicoureteral reflux, Decreased body weight, Hydronephrosis, Small for gestat... OMIM:608739
Liver Disease, Severe Congenital
Aminoaciduria, Hypospadias, Failure to thrive, Increased circulating ferritin concentration, Recu... OMIM:619991
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Large for gestational age, Vesicoureteral reflux, Hydronephrosis, Bladder trabeculation, Ureteral... OMIM:614080
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Failure to thrive, Hypogonadism, Decreased testicular size, Hydrone... ORPHA:261349
Infant Botulism
Hyponatremia ORPHA:178478
Tetrasomy 15Q26
Horseshoe kidney, Hydronephrosis OMIM:614846
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Failure to thrive, Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Craniofacioskeletal Syndrome
Hydronephrosis, Hypospadias, Hypocalcemia, Cryptorchidism OMIM:300712
Trisomy 20P
Abnormal localization of kidney, Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Multi... ORPHA:261318
Vipoma
Hypokalemia, Weight loss, Hypercalcemia ORPHA:97282
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Horseshoe kidney, Cryptorchidis... ORPHA:99776
Erdheim-Chester Disease
Renal insufficiency, Hydronephrosis, Hypogonadotropic hypogonadism, Weight loss, Dysuria ORPHA:35687
Koolen-De Vries Syndrome
Failure to thrive, Recurrent urinary tract infections, Vesicoureteral reflux, Cryptorchidism, Hyd... OMIM:610443
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... ORPHA:79403
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Cryptorchidism, Hydronephrosis, Micropenis, Hypospadias ORPHA:163979
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Microphthalmia, Syndromic 9
Renal hypoplasia, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Hypoplasia of the uterus, Bic... OMIM:601186
Microphthalmia, Lenz Type
Hydroureter, Cryptorchidism, Renal hypoplasia/aplasia, Hydronephrosis, Hypospadias ORPHA:568
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia ORPHA:90362
Oeis Complex
Duplicated collecting system, Hydroureter, Vesicovaginal fistula, Renal agenesis, Ambiguous genit... OMIM:258040
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Infertility, True hermaph... OMIM:278850
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Cryptorchidism ORPHA:457193
Genitopatellar Syndrome
Small scrotum, Multicystic kidney dysplasia, Clitoral hypertrophy, Cryptorchidism, Hydronephrosis ORPHA:85201
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Gitelman Syndrome
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Failure to thrive, Hypomagnesemia,... ORPHA:358
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Failure to thrive OMIM:302960
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Ppoma
Weight loss, Hypercalcemia ORPHA:97278
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Hydronephrosis, Weight loss, Pros... ORPHA:900
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the male genitalia, Recurrent urinary tract infections, Cryptorchidism, Hydronephr... ORPHA:847
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Bardet-Biedl Syndrome
Chronic kidney disease, Hydrometrocolpos, Cryptorchidism, Polycystic ovaries, Nephrotic syndrome,... ORPHA:110
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Abnormal male external genitalia morphology, Abnormal ovarian morpholo... ORPHA:95699
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Clitoral hypertrophy, Hypospadias OMIM:616449
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, C... ORPHA:49
Timothy Syndrome
Hypocalcemia OMIM:601005
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, ... OMIM:236700
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Ureterocele, Urinary retention, Rec... ORPHA:79404
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Failure to thrive, Cryptorchidism, Hydronephrosis, Renal ... ORPHA:464311
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:610505
Zaki Syndrome
Hydronephrosis, Renal agenesis OMIM:619648
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Pelvic kidney, Cryptorchidism OMIM:613001
Pituitary Dermoid And Epidermoid Cysts
Hypogonadism, Amenorrhea, Oligomenorrhea, Oligozoospermia ORPHA:91351
Somatostatinoma
Weight loss, Hypercalcemia ORPHA:97283
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Renal hypoplasia, Microphallus, Polymicrogyria, Vesicoureteral reflux, Cryptorchid... OMIM:618454
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Czeizel-Losonci Syndrome
Ureteral agenesis, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis ORPHA:2437
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Failure to thrive, Polymicrogyria, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2995
Testicular Germ Cell Tumor
Azoospermia, Elevated circulating alpha-fetoprotein concentration OMIM:273300
Congenital Disorder Of Glycosylation, Type Iie
Hydronephrosis, Neurogenic bladder, Failure to thrive, Elevated circulating creatine kinase conce... OMIM:608779
Grfoma
Weight loss, Hypercalcemia ORPHA:97261
Fryns Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Bicornuate u... ORPHA:2059
Musculocontractural Ehlers-Danlos Syndrome
Functional abnormality of the bladder, Horseshoe kidney, Cryptorchidism, Nephrolithiasis, Hydrone... ORPHA:2953
Pelvis-Shoulder Dysplasia
Hydronephrosis, Ambiguous genitalia ORPHA:2839
Pearson Syndrome