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Gene: Wnt4 MGI:98957

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
wingless-type MMTV integration site family, member 4
Synonyms:
Wnt-4

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Wnt4 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.

The table below shows human diseases associated to Wnt4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Serkal Syndrome
Sex reversal, Abnormal penis morphology, Hypospadias, Renal agenesis, Hypoplasia of the bladder ORPHA:139466
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Renal agenesis, Hypospadias, Hypoplasia of the bladder, Ovotestis, Adrenal gland ag... OMIM:611812
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis, Aplasia/Hypoplasia of th... OMIM:158330

The table below shows human diseases predicted to be associated to Wnt4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Thyroid Hormone Metabolism, Abnormal, 1
Hypothyroidism, Decreased circulating free T3, Elevated circulating thyroid-stimulating hormone c... OMIM:609698
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... OMIM:300888
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypothyroidism OMIM:262700
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test OMIM:300123
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... OMIM:616425
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency, Hypogonadism OMIM:615987
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... OMIM:275200
Growth Hormone Deficiency, Isolated Partial
Decreased response to growth hormone stimulation test, Small pituitary gland OMIM:615925
Amenorrhea-Galactorrhea Syndrome
Pituitary adenoma OMIM:104600
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cy... OMIM:615993
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess OMIM:613743
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroidism OMIM:301035
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Decreased serum insulin-like growth factor 1, Decreased response t... OMIM:618157
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism OMIM:301033
Adrenomyodystrophy
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Pituicytoma
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... ORPHA:251623
Retinitis Pigmentosa 59
Cryptorchidism, Renal insufficiency, Micropenis OMIM:613861
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Hypersecretion Of Adrenal Androgens, Familial
Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration OMIM:145295
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
46,Xy Sex Reversal 9
Sex reversal, Ambiguous genitalia, Gonadal dysgenesis, Fused labia minora OMIM:616067
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Decreased circulating free T3, Abnormal circulating insulin concentration, Elevated circulating t... ORPHA:171706
Pyknoachondrogenesis
Stillbirth OMIM:265880
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Hypogonadism OMIM:615996
46,Xy Sex Reversal 8
Sex reversal, Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism OMIM:614279
46,Xy Sex Reversal 6
Chordee, Sex reversal, Hypospadias, Clitoral hypertrophy, Dysgerminoma, Gonadoblastoma OMIM:613762
46,Xy Sex Reversal 1
Sex reversal, Male pseudohermaphroditism, Elevated circulating luteinizing hormone level, Abnorma... OMIM:400044
Frasier Syndrome
Nephrotic syndrome, Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, S... ORPHA:347
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Serkal Syndrome
Sex reversal, Abnormal penis morphology, Hypospadias, Renal agenesis, Hypoplasia of the bladder ORPHA:139466
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Graves disease, Primary adrenal insufficien... ORPHA:3143
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency, Decreased circulating cortisol level OMIM:103230
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... ORPHA:300385
Frasier Syndrome
Ovarian gonadoblastoma, Nephrotic syndrome, Male pseudohermaphroditism, Gonadal dysgenesis, Focal... OMIM:136680
Diabetes Insipidus, Neurohypophyseal
Decreased circulating osteocalcin level, Central diabetes insipidus OMIM:125700
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... OMIM:601894
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Central adrenal insufficiency, Delayed puberty, Hypogonadism OMIM:612079
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Denys-Drash Syndrome
Nephrotic syndrome, Male pseudohermaphroditism, Nephroblastoma, Nephropathy, Gonadal dysgenesis, ... ORPHA:220
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephroblastoma, Nephropathy, Abnormality o... OMIM:194072
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Small pituitary gland OMIM:614880
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... ORPHA:231720
Nephrosialidosis
Nephrotic syndrome, Death in childhood, Nephropathy, Renal insufficiency, Bone-marrow foam cells OMIM:256150
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Hemolytic anemia, Acute kidney injury... OMIM:615008
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Chronic kidney disease, Nephropathy OMIM:602114
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... OMIM:102200
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Anterior hypopituitarism, Decreased response to growth hormone stimulati... OMIM:221750
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Ac... ORPHA:54370
Fanconi Anemia, Complementation Group O
Miscarriage, External genital hypoplasia, Neonatal death, Renal cyst, Death in infancy, Hydroneph... OMIM:613390
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Myxedema
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hypohidrosis, Goiter OMIM:255900
Non-Functioning Pituitary Adenoma
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... ORPHA:91349
Non-Acquired Panhypopituitarism
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:90695
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Testicular seminoma, Renal insufficiency, Hypogonadism, Cryptorchidism... ORPHA:281090
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary OMIM:613986
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst, Ureterovesical stenosis, Death in infancy OMIM:268650
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease OMIM:161900
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Renal hypoplasia/aplasia, Renal insufficiency, Anemia, Thrombocytopenia ORPHA:2123
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... ORPHA:93101
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Goiter, Hyperthyroidism OMIM:613239
Denys-Drash Syndrome
Ovarian gonadoblastoma, Ambiguous genitalia, female, Nephrotic syndrome, Ambiguous genitalia, mal... OMIM:194080
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Gonadoblastoma
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... ORPHA:206484
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... OMIM:310468
Triple A Syndrome
Adrenal insufficiency, Anterior hypopituitarism ORPHA:869
Familial Male-Limited Precocious Puberty
Precocious puberty, Long penis, Macroorchidism, Oligospermia ORPHA:3000
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous ... ORPHA:752
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... ORPHA:168558
Wolfram-Like Syndrome
Primary gonadal insufficiency, Hypothyroidism, Male hypogonadism, Diabetes mellitus, Central diab... ORPHA:411590
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Renal agenesis, Hypospadias, Hypoplasia of the bladder, Ovotestis, Adrenal gland ag... OMIM:611812
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Nephronophthisis
Anemia, Renal insufficiency ORPHA:655
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Cr... ORPHA:2704
46,Xy Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Chordee, Abnormality of the clitoris, Micropenis, Bifid scrotum, Abnorm... ORPHA:325345
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... ORPHA:289548
Preeclampsia
Chronic kidney disease, Abnormality of the kidney, Acute kidney injury, Proteinuria, Polycystic o... ORPHA:275555
Endocrine-Cerebroosteodysplasia
Sex reversal, Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Ambiguous genital... OMIM:612651
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Goite... OMIM:275000
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:609981
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Compensated hypothyroidism, E... OMIM:274300
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease OMIM:618250
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Polycystic ... OMIM:608709
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:605115
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... ORPHA:91350
Panhypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95513
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Decreased response to growth hormone ... ORPHA:91354
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Uteru... OMIM:146255
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Acute kid... ORPHA:567544
Laurence-Moon Syndrome
Renal insufficiency, Displacement of the urethral meatus, Cryptorchidism, Hypoplasia of penis ORPHA:2377
Prune Belly Syndrome
Urogenital sinus anomaly, Cryptorchidism, Abnormality of the ureter, Hydroureter, Multicystic kid... ORPHA:2970
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Urinary incontinence, Recurrent urin... ORPHA:93110
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95512
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... ORPHA:95619
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Small pituitary gland OMIM:612702
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hypogonadism OMIM:617872
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Ambiguous ... OMIM:250790
Coach Syndrome 3
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... OMIM:619113
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Complement Factor H Deficiency
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel... OMIM:609814
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... OMIM:610755
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Abnormality of the urethra, Urinary retention, Polycystic ovaries, Abnormality of the ov... ORPHA:2795
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... ORPHA:85450
Ane Syndrome
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... ORPHA:157954
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency OMIM:613779
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone level, Decreased circula... ORPHA:95715
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... OMIM:191800
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:95494
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Nephronophthisis 7
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611498
Androgen Insensitivity, Partial
Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogonadism, Azoospe... OMIM:312300
Thyrocerebrorenal Syndrome
Nephritis, Thrombocytopenia, Euthyroid goiter, Renal insufficiency ORPHA:3327
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomeru... OMIM:617575
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, I... ORPHA:90793
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, G... ORPHA:84090
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Ureteral duplication, Arrhinencephaly, Ambiguous genit... ORPHA:3027
Nephrotic Syndrome, Type 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... OMIM:256370
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Diabetes in... OMIM:182230
Glycerol Kinase Deficiency
Adrenal insufficiency, Cryptorchidism, Adrenocortical hypoplasia OMIM:307030
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:95716
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ... OMIM:177735
Burkitt Lymphoma
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Abnormality of th... ORPHA:543
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Bifid scrotum, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Umbil... ORPHA:85321
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:613038
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Currarino Syndrome
Hypoplasia of penis, Bifid scrotum, Hypospadias, Male pseudohermaphroditism, Vesicoureteral reflux ORPHA:1552
Thrombotic Thrombocytopenic Purpura
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anem... ORPHA:54057
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus OMIM:304900
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism OMIM:264350
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Hypogonadism OMIM:616629
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis OMIM:619386
Acrorenal Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology ORPHA:971
Gangliocytoma
Abnormality of the pituitary gland, Pituitary null cell adenoma, Elevated circulating growth horm... ORPHA:251937
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... ORPHA:64744
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Hypospadias, Renal insufficiency, Hydronephrosis, Anemia, Thrombocytopenia OMIM:611209
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Nephritis, Mesangial hypercellularity, Thickenin... ORPHA:63
Joubert Syndrome 4
Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ... OMIM:609583
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Methylmalonic aciduria, Acute kidney injury, Pancytopenia, Thrombocytop... ORPHA:859
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Normochromic anemia, Hemolytic anemia, Proteinuria OMIM:245900
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Neutrophilia, Hemophagocytosis, Death in childhood, Membranoproliferative glo... OMIM:619644
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Adrenal hyper... OMIM:201810
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Nephronophthisis-Like Nephropathy 2
Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, Stage 5 chron... OMIM:619468
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Prolactinoma
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Elevated circulating ... ORPHA:2965
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Panhypopituitarism, Anterior hypopituitarism, Increased circulating pro... ORPHA:91351
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Autoimmu... OMIM:613496
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Abnormal hypo... ORPHA:54595
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Decreased circulating aldosterone level, Adrenal insufficienc... OMIM:240300
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:94086
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Renal insu... OMIM:614723
Functioning Gonadotropic Adenoma
Increased serum testosterone level, Adrenocorticotropic hormone deficiency, Abnormal prolactin le... ORPHA:91348
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:615573
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis OMIM:249660
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... OMIM:131100
Dent Disease 2
Chronic kidney disease, Aminoaciduria, Low-molecular-weight proteinuria, Hypercalciuria, Umbilica... OMIM:300555
Cog2-Cdg
Small pituitary gland ORPHA:435934
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease ORPHA:3156
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:95717
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... OMIM:615577
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... OMIM:228300
Myotubular Myopathy With Abnormal Genital Development
Ambiguous genitalia, male, Bifid scrotum, Micropenis, Hypospadias, Unilateral cryptorchidism, Gla... OMIM:300219
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:225
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Renal dysplasia,... ORPHA:2237
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency OMIM:609886
Ovarian Fibroma
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary ORPHA:314473
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Ureterocele, Multicystic kidney dysplasia, Pancreatic aplasia, Renal in... ORPHA:261265
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Wolman Disease
Adrenal insufficiency, Adrenal calcification ORPHA:75233
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy, Hyperparathyroidism, Anemia ORPHA:2668
Hand-Foot-Genital Syndrome
Chordee, Bifid scrotum, Micropenis, Uterus didelphys, Hypospadias, Ureteropelvic junction obstruc... OMIM:140000
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Lymphopenia, Neutropenia, Anemia, Thrombocytopenia, Focal segmental glomerulo... OMIM:242900
Hypothyroidism Due To Tsh Receptor Mutations
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaired sensitivity... ORPHA:90673
Malaria
Anemia, Thrombocytopenia, Acute kidney injury ORPHA:673
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Increased circulating ACTH level, Abnormality of adrenal physiology ORPHA:43
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency OMIM:105120
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Neutropenia,... OMIM:617056
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Precocious puberty, Renal salt wasting OMIM:614736
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... OMIM:162000
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Giant Axonal Neuropathy
Abnormality of the pituitary gland ORPHA:643
Myh9-Related Disease
Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Increased mean ... ORPHA:182050
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Female external genitalia in individual with 46,XY karyotype OMIM:264300
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Hyperuricosuria, Stage 4 chronic kidney disease, Acute kidney injury, Renal insuffi... ORPHA:411536
Liddle Syndrome 2
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:618114
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Miscarriage, Decreased response to growth hormone stimulation test, Hypospadias, Renal d... ORPHA:96179
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, H... ORPHA:93111
Allan-Herndon-Dudley Syndrome
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:300523
Anti-Glomerular Basement Membrane Disease
Hematuria, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia ORPHA:375
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormality of the lymph nodes ORPHA:33111
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cell... OMIM:615559
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... OMIM:618594
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal i... ORPHA:199296
Culler-Jones Syndrome
Hypopituitarism, Ectopic posterior pituitary, Hypogonadism, Cryptorchidism, Anterior pituitary hy... OMIM:615849
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:226316
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Glycosuria, Low-... OMIM:300009
Babesiosis
Splenomegaly, Leukopenia, Hemolytic anemia, Renal insufficiency, Thrombocytopenia ORPHA:108
Lcat Deficiency
Decreased glomerular filtration rate, Hemolytic anemia, Renal insufficiency, Proteinuria, Acute k... ORPHA:650
Lesch-Nyhan Syndrome
Renal insufficiency, Anemia, Hematuria ORPHA:510
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Senior-Loken Syndrome 4
Anemia, Polyuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Jeune Syndrome
Nephropathy, Renal insufficiency, Nephronophthisis ORPHA:474
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Splenomegaly, Neonatal death, Tubulointerstiti... OMIM:263200
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Cryptorchidism, Renal hypoplasia, Proteinuria ORPHA:1307
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Anemia, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Ovarian Fibrothecoma
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary, Abnormal endometrium morphology ORPHA:314478
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... OMIM:617641
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Bilateral renal atrophy, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... ORPHA:361
Rhyns Syndrome
Chronic kidney disease, Decreased response to growth hormone stimulation test, Nephronophthisis, ... OMIM:602152
Tsh-Secreting Pituitary Adenoma
Central adrenal insufficiency, Increased circulating prolactin concentration, Euthyroid hyperthyr... ORPHA:91347
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Death in childhood, Hypochromic microcytic anemia, Mild proteinuria, Renal insuffici... OMIM:619147
Arthrogryposis Multiplex Congenita 6
Hypospadias, Death in childhood, Neonatal death, Death in infancy OMIM:619334
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Acquired Ichthyosis
Renal insufficiency ORPHA:454
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Thin glomer... OMIM:615244
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... OMIM:610600
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism ORPHA:300298
Fechtner syndrome
Neutrophil inclusion bodies, Nephritis, Hematuria, Leukocyte inclusion bodies, Proteinuria, Giant... OMIM:153640
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency, Neutropenia, Anemia, Thrombocytopenia ORPHA:289916
Galactosemia
Cryptorchidism, Abnormal erythrocyte enzyme level, Renal insufficiency ORPHA:352
Martin-Probst Syndrome
Chordee, Bifid scrotum, Micropenis, Hypoplastic nipples, Pancytopenia, Proteinuria, Renal insuffi... OMIM:300519
Sifrim-Hitz-Weiss Syndrome
Micropenis, Hypogonadotropic hypogonadism, Ambiguous genitalia, Renal insufficiency, Cryptorchidi... OMIM:617159
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:203780
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Abnormality of the kidney, Nephropathy, Enlarged kidn... ORPHA:85445
Hepatic Veno-Occlusive Disease
Renal insufficiency ORPHA:890
Fanconi Renotubular Syndrome 2
Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Proximal tubulopathy OMIM:613388
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... ORPHA:251510
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Hydroureter, Abnormality of the urethra, Mult... ORPHA:2973
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Dysuria, Nephrotic syndrome, Normocytic anemia, Hematuria, Membranous nephropat... ORPHA:49041
Hereditary Renal Hypouricemia
Chronic kidney disease, Decreased glomerular filtration rate, Abnormal renal physiology, Abnormal... ORPHA:94088
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
Xanthinuria, Type Ii
Nephrolithiasis, Increased urinary hypoxanthine, Xanthinuria, Renal insufficiency OMIM:603592
Familial Isolated Hyperparathyroidism
Parathyroid adenoma, Primary hyperparathyroidism, Hypercalciuria, Renal insufficiency, Hyperphosp... ORPHA:99879
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Renal insufficiency, Acute kidney i... ORPHA:79233
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... ORPHA:2260
Exstrophy-Epispadias Complex
Bifid uterus, Abnormality of the ureter, Bladder exstrophy, Horseshoe kidney, Bladder duplication... ORPHA:322
Flynn-Aird Syndrome
Primary adrenal insufficiency, Abnormality of the thyroid gland, Type II diabetes mellitus ORPHA:2047
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Non-acidotic pro... ORPHA:1652
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Anemia, Thrombocy... OMIM:612925
Liddle Syndrome
Nephropathy, Renal insufficiency ORPHA:526
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia OMIM:202110
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:226313
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Renal insufficiency ORPHA:28
Satoyoshi Syndrome
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... ORPHA:3130
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Non-caseating epithelioid cell granulomatosis, Acute tubulointerstitial nephr... OMIM:607665
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Proteinuria, Stage 5 chron... OMIM:614817
Hypoplasminogenemia
Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... ORPHA:556037
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Exercise-induced myoglobinuria, Reticulocytosis, Erythroid... OMIM:300653
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, Tubulointerstiti... OMIM:615862
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Death... OMIM:614922
Bardet-Biedl Syndrome 17
Micropenis, Polyuria, Renal cyst, Hypogonadism, Stage 5 chronic kidney disease OMIM:615994
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Megabladder, Congenital
Multiple glomerular cysts, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Fetal megacystis OMIM:618719
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Renal cyst, Nephropathy, Hematuria OMIM:611773
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Adrenocorticotropic hormone excess, Ambiguous genitalia, male, Male ... ORPHA:90791
Alagille Syndrome 2
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria OMIM:610205
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Hypospadias, Male pseudohermaphroditism, Multicystic kidney dysplasia, ... ORPHA:2075
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Renal insufficiency, Neutropenia, Anemia, Thrombocytopenia ORPHA:79312
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Precocious puberty, Premature thelarche, Isosexual precocious pubert... ORPHA:90795
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Renal insufficiency, Anemia, Thrombocytopenia ORPHA:27
Lead Poisoning
Renal tubular dysfunction, Chronic kidney disease, Miscarriage, Oligospermia, Tubulointerstitial ... ORPHA:330015
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Nephrotic syndrome, Nephritis, Thickened glomerular basement membrane, Protei... OMIM:301050
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Hypervitaminosis A, Susceptibility To
Renal insufficiency OMIM:240150
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency ORPHA:44
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased circulating T4 concentration, Precocious puberty, Central adrenal insufficiency, Decrea... ORPHA:98754
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... OMIM:619155
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Unilateral re... OMIM:137920
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrocele testis, Chronic kidney disease, Membranoproliferative glomerulonephritis, Renal insuffi... OMIM:137940
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... ORPHA:93599
Liddle Syndrome 1
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:177200
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Red-brown urine, Tubulointerstitial nephritis, Renal insufficiency, Renal tubular ... ORPHA:228302
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffic... OMIM:256300
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased circulating T4 concentration, Precocious puberty, Central adrenal insufficiency, Decrea... ORPHA:98793
Pediatric Systemic Lupus Erythematosus
Dark urine, Nephrotic syndrome, Lymphopenia, Nephritis, Abnormality of the urinary system, Leukop... ORPHA:93552
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Acute kidney injury, Hy... ORPHA:3467
Pagod Syndrome
Renal hypoplasia/aplasia, Agonadism, Multicystic kidney dysplasia, Abnormality of the spleen, Abn... ORPHA:991
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... ORPHA:556030
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased circulating T4 concentration, Precocious puberty, Central adrenal insufficiency, Decrea... ORPHA:177904
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Posterior pituitary hypoplasia ORPHA:75389
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... ORPHA:95613
Meacham Syndrome
Blind vagina, Bicornuate uterus, Male pseudohermaphroditism, Death in childhood, Accessory spleen... OMIM:608978
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased circulating T4 concentration, Precocious puberty, Central adrenal insufficiency, Decrea... ORPHA:177901
Aicardi-Goutieres Syndrome 9
Micropenis, Hepatosplenomegaly, Recurrent urinary tract infections, Hyperechogenic kidneys, Thick... OMIM:619487
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypospadias, Hyperuricosuria, Urolithiasis, Death in childhood, Renal insufficiency, Cryptorchidi... OMIM:300661
Alg1-Cdg
Abnormality of the kidney, Nephrotic syndrome, Renal insufficiency ORPHA:79327
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Low-molecular-weight proteinuri... OMIM:300554
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Proteinuria, Renal insufficiency, Lacticaci... OMIM:134600
Campomelic Dysplasia
Sex reversal, Hypospadias, Spinal dysraphism, Hydronephrosis, Spina bifida OMIM:114290
Muckle-Wells Syndrome
Renal insufficiency, Leukocytosis, Renal amyloidosis OMIM:191900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Anemia, Thrombocy... OMIM:612922
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney disease OMIM:618061
Familial Hypoaldosteronism
Adrenal insufficiency, Decreased circulating aldosterone level, Increased circulating renin level ORPHA:427
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... ORPHA:656
Dominant Beta-Thalassemia
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus, Hy... ORPHA:231226
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Nephropathy, Deafness, And Hyperparathyroidism
Nephropathy, Hyperparathyroidism, Parathyroid hyperplasia, Renal insufficiency OMIM:256120
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... ORPHA:293978
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal glomerular visceral epithelial cell ... ORPHA:567548
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Anemia, Thrombocy... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Anemia, Thrombocy... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Anemia, Thrombocy... OMIM:612926
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis OMIM:260000
Adrenomyeloneuropathy
Adrenal insufficiency, Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Adrenoc... ORPHA:139399
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Anemia, Polyuria, Hyposthenuria, Tubulointerstitial fibr... OMIM:256100
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:218030
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis OMIM:617731
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Labial hypoplasia, Bicornuate uterus, Renal agenesis, Horseshoe kidney, Clitoral hypertrophy, Ect... ORPHA:140952
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level OMIM:203400
Bor Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal... ORPHA:107
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia OMIM:617661
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Prader-Willi-Like Syndrome
Abnormality of the endocrine system, Precocious puberty, Decreased circulating T4 concentration, ... ORPHA:398073
Beta-Thalassemia Intermedia
Cholelithiasis, Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Hypogonadism, Diabetes... ORPHA:231222
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Polyuria, Leukopenia, Hyperechogenic kidneys, Proteinuria, Anemia, Thromb... OMIM:613845
Kearns-Sayre Syndrome
Hypoparathyroidism, Primary adrenal insufficiency, Diabetes mellitus OMIM:530000
Renal-Hepatic-Pancreatic Dysplasia 1
Splenomegaly, Pancreatic fibrosis, Asplenia, Hyperechogenic pancreas, Neonatal death, Enlarged ki... OMIM:208540
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Chronic kidney disease, Macroscopic hematuria, Focal segmental glomeruloscleros... ORPHA:567546
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Distal Monosomy 13Q
Primary adrenal insufficiency ORPHA:1590
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Ambiguous geni... ORPHA:90796
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Acute kidney injury, Death in infancy, ... OMIM:618886
Igg4-Related Kidney Disease
Abnormal ureter morphology, Urethritis, Lymphadenitis, Ureteral obstruction, Hematuria, Renal int... ORPHA:449395
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Chronic kidney disease, Uterine neoplasm, Nephropathy, Hematuria, Abnormality of the female genit... ORPHA:1018
Prader-Willi Syndrome
Precocious puberty, Central adrenal insufficiency, Small pituitary gland, Decreased response to g... ORPHA:739
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Ectopic posterior pituitary, Decreased ser... OMIM:619476
Alstrom Syndrome
Nephritis, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism,... OMIM:203800
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormality of the parathyroid morphology, Nephrolithiasis, Parathyroid adenoma, Primary hyperpar... ORPHA:99880
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular basement membrane, Renal ... OMIM:308940
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, Abnormal testis ... ORPHA:96147
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Hyperuricosuria, Renal insufficiency, Acute kidney injury, Uric acid nephrolithiasis ORPHA:411543
Poems Syndrome
Abnormality of the endocrine system, Increased circulating prolactin concentration, Primary adren... ORPHA:2905
Beta-Thalassemia Major
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus, Hy... ORPHA:231214
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... ORPHA:199299
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency ORPHA:261476
Pyomyositis
Testicular teratoma, Renal insufficiency, Leukocytosis, Recurrent cutaneous abscess formation ORPHA:764
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Anemia, Polyuria, Tubulointerstitial fibrosis, Renal cor... OMIM:606966
3-Methylglutaconic Aciduria Type 7
Renal cyst, Infection associated neutropenia, 3-Methylglutaconic aciduria, Renal insufficiency, N... ORPHA:445038
Parathyroid Carcinoma
Abnormality of the parathyroid morphology, Nephrolithiasis, Parathyroid carcinoma, Primary hyperp... ORPHA:143
Hyperprolinemia Type 2
Prolinuria, Renal insufficiency, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentra... ORPHA:79101
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Elevated serum 11-de... OMIM:202010
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Vesicoureteral re... ORPHA:261222
Kleefstra Syndrome
Hypoplasia of penis, Supernumerary nipple, Micropenis, Hypospadias, Renal cyst, Renal insufficien... ORPHA:261494
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Thrombocytopenia, Renal insufficiency, Lymphadenopathy ORPHA:83313
Hyperuricemia, Hprt-Related
Nephrolithiasis, Hyperuricosuria, Renal insufficiency OMIM:300323
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Male pseudohermaphroditism, Cervical spina bifida OMIM:600122
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Hypothyro... OMIM:269200
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Nephropathy, Renal insufficiency OMIM:247410
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Myoglobinuria, Hemolytic anemia, Renal insufficiency, Reticul... ORPHA:713
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Nephronophthisis 19
Bile duct proliferation, Splenomegaly, Nephronophthisis, Stage 5 chronic kidney disease OMIM:616217
Acrorenal Syndrome, Autosomal Recessive
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency OMIM:201310
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage... OMIM:609057
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Renal tubular acidosis, Polyuria,... OMIM:248250
Joubert Syndrome 2
Nephronophthisis, Renal cyst, Renal insufficiency, Hypoplastic male external genitalia, Encephalo... OMIM:608091
Cryoglobulinemic Vasculitis
Splenomegaly, Mediastinal lymphadenopathy, Hematuria, Renal insufficiency, Proteinuria, Glomerulo... ORPHA:91138
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Anemia, Impaired renal uric acid cle... OMIM:174000
Cystinuria
Nephrolithiasis, Hematuria, Renal insufficiency ORPHA:214
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Hypoplasia of penis, Anemia, Male pseudohermaphroditism, Abnormality of the ... ORPHA:847
Cystinosis
Renal tubular dysfunction, Aminoaciduria, Nephropathy, Proteinuria, Renal insufficiency ORPHA:213
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Relapsing Fever
Neutrophilia, Leukocytosis, Abnormality of the urinary system, Leukopenia, Hematuria, Acute kidne... ORPHA:91547
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Methylmalonic aciduria, Homocystinuria, Nephropathy, Hematuria, Renal insuf... OMIM:277400
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis, Abnormal salivary gland morphology ORPHA:314652
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... OMIM:617730
Hypophosphatemic Rickets
Renal phosphate wasting, Precocious puberty, Periapical tooth abscess, Hypocalciuria, Hyperphosph... ORPHA:437
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency ORPHA:3222
Fanconi Anemia
Absent testis, Umbilical hernia, Hypogonadism, Abnormal testis morphology, Abnormal preputium mor... ORPHA:84
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... OMIM:120330
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... ORPHA:226307
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Compensated hypothyroidism, Congenital hyp... OMIM:610978
Carney Triad
Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Adrenal overactivity ORPHA:139411
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Increased pi... ORPHA:90674
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Nephropathy, Renal insufficiency ORPHA:1563
Legionnaires Disease
Lymphopenia, Splenomegaly, Hematuria, Renal insufficiency, Proteinuria, Bone marrow hypocellulari... ORPHA:549
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Horseshoe kidney, Abnormal intern... ORPHA:1772
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Multiple renal cysts, Polycystic kidney dysplasia, Renal insu... OMIM:613095
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Acute kidney injury, Exercise-induce... ORPHA:368
Joubert Syndrome 7
Encephalocele, Renal cyst, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611560
Myasthenia Gravis
Primary adrenal insufficiency, Abnormality of the thymus, Hashimoto thyroiditis, Hyperthyroidism ORPHA:589
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d... OMIM:602522
Toxic Epidermal Necrolysis
Dysuria, Abnormal vagina morphology, Abnormality of the urethra, Renal insufficiency, Neutropenia... ORPHA:537
Chromosome 17Q12 Deletion Syndrome
Ovarian cyst, Unilateral renal agenesis, Multicystic kidney dysplasia, Hypoplasia of the bladder,... OMIM:614527
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Adrenal calcification OMIM:278000
Wild Type Attr Amyloidosis
Renal insufficiency, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:330001
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Oliguria, Acute kidney injury, Renal insufficiency, Exercise... ORPHA:99845
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Hematuria, Renal insufficiency, Proteinuria, Glomerulopathy, Lymphadenopathy ORPHA:36412
Adrenoleukodystrophy
Primary adrenal insufficiency, Hypogonadism OMIM:300100
Prader-Willi Syndrome
Adrenal insufficiency, Type II diabetes mellitus, Hyperinsulinemia, Precocious puberty, Decreased... OMIM:176270
Isolated Exencephaly
Posterior pituitary agenesis, Maternal diabetes, Anterior pituitary hypoplasia ORPHA:563612
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal hypop... OMIM:617595
Cystinosis, Nephropathic
Nephrolithiasis, Medullary nephrocalcinosis, Aminoaciduria, Splenomegaly, Polyuria, Glycosuria, H... OMIM:219800
Bifid Nose With Or Without Anorectal And Renal Anomalies
Unilateral renal agenesis, Precocious puberty, Rectovaginal fistula, Renal agenesis OMIM:608980
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Supernumerary nipple, Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Glomer... OMIM:614376
Addison Disease
Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Decreased circulating corti... ORPHA:85138
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis OMIM:204690
Hypocalciuric Hypercalcemia, Familial, Type Iii