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 |
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Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis |
OMIM:204690 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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