| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Immunodeficiency 18 |
|
Defective T cell proliferation, Recurrent gastroenteritis, Lymphopenia, Recurrent otitis media, D... |
OMIM:615615 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... |
OMIM:615897 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Renal potassium wasting |
OMIM:618314 |
| Hypomagnesemia 3, Renal |
|
Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiuria, Hematuria,... |
OMIM:248250 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Renal calci... |
OMIM:248190 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Sinusitis, Otitis media, Decr... |
OMIM:312863 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting |
ORPHA:564178 |
| Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent respiratory infec... |
OMIM:300853 |
| Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Eczema, Re... |
OMIM:607271 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
| Familial Hypocalciuric Hypercalcemia |
|
Reduced ratio of renal calcium clearance to creatinine clearance, Parathormone-independent increa... |
ORPHA:405 |
| Immunodeficiency 48 |
|
Recurrent candida infections, Panhypogammaglobulinemia, Recurrent respiratory infections, Absence... |
OMIM:269840 |
| Hyperlysinemia, Type I |
|
Anemia, Hyperlysinuria, Hyperactivity |
OMIM:238700 |
| Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| East Syndrome |
|
Renal sodium wasting, Renal salt wasting, Abnormal urinary electrolyte concentration, Salt cravin... |
ORPHA:199343 |
| Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... |
OMIM:614493 |
| Hypomagnesemia 2, Renal |
|
Renal insufficiency, Hypocalciuria, Renal magnesium wasting |
OMIM:154020 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Lack of T cell function, T lymphocytopenia, Inflammatory abno... |
ORPHA:277 |
| Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Neutropenia i... |
OMIM:607594 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis |
OMIM:114580 |
| Immunoglobulin A Deficiency 2 |
|
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Abnormal lymp... |
OMIM:609529 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Recurrent infections, Decreased circulating total IgM |
OMIM:606445 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hemolytic anemia, Hypocitraturia, Hypermagnesiuria, Hyperpho... |
ORPHA:18 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Decreased ... |
ORPHA:572 |
| Immunodeficiency 15A |
|
Acne inversa, Decreased proportion of CD8-positive T cells, Cutaneous abscess, Recurrent otitis m... |
OMIM:618204 |
| Medullary Sponge Kidney |
|
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis |
ORPHA:1309 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent respiratory infections, Re... |
OMIM:613500 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Idiopathic Hypercalciuria |
|
Calcium oxalate nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsor... |
ORPHA:2197 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Chronic sinusitis, Recu... |
OMIM:613502 |
| Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocytosis, Reduced delayed hypersensit... |
OMIM:607624 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Neutropenia, Increased circulat... |
ORPHA:158061 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hypertriglyceridemia, Erythroderma, Neutropenia, Reduced natural killer cell activity, De... |
ORPHA:540 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD4-positive helper ... |
ORPHA:169154 |
| Hyperprolinemia, Type I |
|
Prolinuria, Hyperactivity, Hydroxyprolinuria, Hyperglycinuria |
OMIM:239500 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Bronchiectasis, Decreased lymphocyte proliferation in response to mitogen, Recurrent lower respir... |
OMIM:618534 |
| Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
| Hartnup Disorder |
|
Neutral hyperaminoaciduria, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, R... |
OMIM:612692 |
| Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... |
OMIM:240500 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... |
OMIM:619802 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent opportunistic infections, Decreased circulating total IgM, Lack of T cell function, Chr... |
ORPHA:35078 |
| Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... |
OMIM:619374 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Reduced antigen-specific T cell proliferation, Abnormal B cell count, Hepatosplenomegaly, Abnorma... |
ORPHA:331206 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Recurrent otitis m... |
OMIM:600802 |
| Sweet Syndrome |
|
Oligoarthritis, Acute myeloid leukemia, Sterile abscess, Anemia, Chronic lymphatic leukemia, Incr... |
ORPHA:3243 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... |
OMIM:619774 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Neutropenia, Recurrent urinary tract infections, Chronic mucocutaneous ... |
OMIM:209920 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Restlessness, Hyperglycinuria |
OMIM:605899 |
| Gitelman Syndrome |
|
Nocturia, Polyuria, Hypocalciuria, Salt craving, Renal magnesium wasting, Enuresis, Polydipsia, R... |
OMIM:263800 |
| Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, C... |
OMIM:601859 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Bronchiectasis, Pyoderma, Recurrent bronchopulmonary infections, Lymphopenia, ... |
OMIM:242700 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Medullary nephrocalcinosis, Polyuria, Nephrocalcinosis, Hypercalciuria |
OMIM:616963 |
| Cd8 Deficiency, Familial |
|
Bronchiectasis, Recurrent bacterial infections, Absence of CD8-positive T cells, Recurrent viral ... |
OMIM:608957 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Thrombocytopenia, Impaired memory B cell generation, Splenomegaly, Sepsis... |
OMIM:308230 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Increased urinary disaccharide excretion |
OMIM:248510 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypercalciuria |
OMIM:612286 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent opportunistic infections, Decreased lymphocyte proliferation in response to mitogen, Re... |
OMIM:613179 |
| Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypermagnesiuria, Nephrocalcinosis, Hypercalciuria, Hyperprost... |
ORPHA:73224 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:70578 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:178320 |
| Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... |
ORPHA:331235 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Eosinophilia, Colitis, Recurrent viral infections, Pneumonia, Lymphadenitis, ... |
ORPHA:911 |
| Thymic Aplasia |
|
T lymphocytopenia, Recurrent Staphylococcus aureus infections, Coombs-positive hemolytic anemia, ... |
ORPHA:83471 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Malar rash, Splenomegaly, Increased B cell count, Elevated proportion of CD4-negative, CD8-negati... |
OMIM:603909 |
| Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma... |
ORPHA:443811 |
| Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria |
ORPHA:428 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Renal salt wasting, Pancytopenia, Polyuria, Proteinuria, Thrombocytopenia, Hy... |
OMIM:613845 |
| Immunodeficiency 17 |
|
Chronic decreased cirulating IgG2, T lymphocytopenia, Chronic oral candidiasis, Abnormal B cell m... |
OMIM:615607 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis |
OMIM:612287 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Decreased g... |
OMIM:613388 |
| Histidinemia |
|
Histidinuria, Hyperactivity |
ORPHA:2157 |
| Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis, Hypercal... |
OMIM:300555 |
| Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
| Wiskott-Aldrich Syndrome |
|
Eczema, Recurrent sinusitis, Eosinophilia, Decreased proportion of CD4-positive helper T cells, D... |
OMIM:301000 |
| Fanconi Renotubular Syndrome 3 |
|
Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria |
OMIM:615605 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaciduria, Low-mole... |
OMIM:134600 |
| Dent Disease 1 |
|
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... |
OMIM:300009 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Immunodeficiency 58 |
|
Recurrent aphthous stomatitis, Decreased T cell activation, Bronchiectasis, Allergic rhinitis, De... |
OMIM:618131 |
| Senior-Boichis Syndrome |
|
Anemia, Abnormal renal insterstitial morphology, Stage 5 chronic kidney disease, Renal corticomed... |
ORPHA:84081 |
| Bartter Syndrome, Type 3 |
|
Renal salt wasting, Hyperchloriduria, Increased urinary potassium, Polyuria, Hypocalciuria, Impai... |
OMIM:607364 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Anemia, Stage 5 chronic kidney disease, Rena... |
OMIM:174000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
| Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting |
OMIM:619406 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria |
OMIM:242050 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Colit... |
ORPHA:2442 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Decreased T cell activation, ... |
ORPHA:66628 |
| Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria |
OMIM:239199 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Renal sodium wasting, Renal salt wasting, Polyuria, Hypocalciuria, Salt craving, Enuresis, Polydi... |
OMIM:612780 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Hyperactivity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune h... |
ORPHA:760 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Decreased T cell activation, ... |
ORPHA:179494 |
| Hypercalcemia, Infantile, 1 |
|
Medullary nephrocalcinosis, Polyuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria |
OMIM:143880 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Decreased T cell activation, Perianal abscess, Eosinophilic infiltration of the esophagus, Pancol... |
OMIM:618213 |
| Apparent Mineralocorticoid Excess |
|
Renal sodium wasting, Nephrocalcinosis, Renal insufficiency, Abnormal urine sodium concentration,... |
ORPHA:320 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urinary potassium, Polyuria, Decr... |
OMIM:613090 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Reduc... |
OMIM:602522 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Anemia, Nephrotic syndrome, Renal interstiti... |
ORPHA:85450 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
| Cranioectodermal Dysplasia 1 |
|
Tubulointerstitial nephritis, Stage 1 chronic kidney disease, Stage 5 chronic kidney disease, Ren... |
OMIM:218330 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... |
ORPHA:3337 |
| Schimke Immuno-Osseous Dysplasia |
|
Anemia, Minimal change glomerulonephritis, Abnormal lymphocyte physiology, Lymphopenia, Impaired ... |
ORPHA:1830 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Pancytopenia, Inflammation of the large intestine, Impaired T cell fu... |
OMIM:614576 |
| Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Hyperphosphaturia, Renal insufficiency, Hypercalciuria |
ORPHA:99879 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Hypercalciuria, Distal renal tubular acidosis |
OMIM:602722 |
| Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... |
ORPHA:411634 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary incontinence, Hyperactivity, Urinary urgency, Nocturia, Urinary hesitancy |
OMIM:609727 |
| Corticosteroid-Binding Globulin Deficiency |
|
Anemia, Decreased urinary potassium |
OMIM:611489 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hypercalciuria, Polydipsia |
OMIM:613677 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis... |
OMIM:300554 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Anemia, Hyperphosphaturia, Polyuria, Polydipsia, Splenomegaly, Hypercalciuria |
OMIM:239200 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Sacroiliac arthritis, Malar rash, Oligoarthritis, Abnormality of tumor necrosis factor secretion,... |
ORPHA:85436 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyposthenuria, Hypernatriuria |
OMIM:300539 |
| Vici Syndrome |
|
Leukopenia, Gray matter heterotopia, Decreased T cell activation, T lymphocytopenia, Recurrent re... |
OMIM:242840 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypocalciuria, Nephrolithiasis, Hypercalciuria |
OMIM:145980 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria |
OMIM:616026 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Renal salt wasting |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Renal salt wasting |
OMIM:203400 |
| Hereditary Orotic Aciduria |
|
Anemia, Recurrent respiratory infections, Impaired T cell function, Splenomegaly |
ORPHA:30 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Anemia, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal ... |
ORPHA:436271 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Renal salt wasting |
OMIM:264350 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Micropenis, Hypercalciuria |
OMIM:614732 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypercalciuria |
OMIM:601198 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hyperphosphaturia, Tooth abscess |
ORPHA:89937 |
| Helix Syndrome |
|
Polyuria, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Polydipsia |
OMIM:617671 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting |
OMIM:193100 |
| Fanconi-Bickel Syndrome |
|
Renal tubular acidosis, Glycosuria, Hyperphosphaturia, Generalized aminoaciduria, Nephropathy, Ne... |
ORPHA:2088 |
| Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Impaired T cell functio... |
OMIM:258900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Anemia, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal ... |
OMIM:220110 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Nephrolithiasis, Medullary nephrocalcinosis, Hypercalciuria |
ORPHA:157215 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... |
OMIM:145981 |
| Enamel-Renal Syndrome |
|
Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu... |
ORPHA:1031 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyposthenuria, Hyperprostaglandinuria, Renal salt wasting, Hyperchloriduria, Increased urinary po... |
OMIM:241200 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Skin rash... |
ORPHA:542323 |
| Primary Unilateral Adrenal Hyperplasia |
|
Increased urinary potassium, Polydipsia |
ORPHA:231580 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Brain abscess, Hemolytic anemia, Abnormality of chemokine secretion, Increased ... |
ORPHA:544482 |
| Hypophosphatasia, Infantile |
|
Anemia, Phosphoethanolaminuria, Elevated urine pyrophosphate, Nephrocalcinosis, Hypercalciuria |
OMIM:241500 |
| Familial Hypoaldosteronism |
|
Decreased urinary potassium, Renal salt wasting, Proximal renal tubular acidosis |
ORPHA:427 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyposthenuria, Hyperprostaglandinuria, Renal salt wasting, Hyperchloriduria, Increased urinary po... |
OMIM:601678 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypercalciuria, Calcium nephrolithiasis |
OMIM:241530 |
| Fanconi-Bickel Syndrome |
|
Glycosuria, Renal tubular dysfunction, Hyperphosphaturia, Generalized aminoaciduria |
OMIM:227810 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypercalciuria |
ORPHA:251274 |
| Pearson Marrow-Pancreas Syndrome |
|
Anemia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Reticulocytopenia, Refractory siderobl... |
OMIM:557000 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Abnormal tubulointerstitial morphology, Polydipsia,... |
ORPHA:411629 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Recurrent candida infections, Impaired T cell function, Splenomegaly |
OMIM:201100 |
| Arima Syndrome |
|
Renal tubular atrophy, Anemia, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic k... |
OMIM:243910 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Renal salt wasting |
OMIM:614736 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria |
ORPHA:2239 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Polyuria, Medullary nephrocalcinosis, Hypercalciuria |
OMIM:300971 |
| Bartter Syndrome Type 4 |
|
Impaired renal concentrating ability, Acute kidney injury, Stage 5 chronic kidney disease, Renal ... |
ORPHA:89938 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Stage 5 chronic kidney disease, Glycosuria, Hyperphosphaturia, Hematuria, Medullar... |
OMIM:219800 |
| Late-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting |
ORPHA:556037 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... |
OMIM:600740 |
| Primary Hyperoxaluria |
|
Elevated urine glycolate, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disease, Hematu... |
ORPHA:416 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Renal salt wasting, Salt craving, Renal insufficiency, Decreased urinary potas... |
ORPHA:95409 |
| Wilson Disease |
|
Aminoaciduria, Anemia, Hemolytic anemia, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction... |
OMIM:277900 |
| Lysosomal Acid Lipase Deficiency |
|
Abnormal urine potassium concentration, Anemia, Hypersplenism, Renal salt wasting, Hypernatriuria... |
ORPHA:275761 |
| Early-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting |
ORPHA:556030 |
| Adrenal Hypoplasia, Congenital |
|
Renal salt wasting |
OMIM:300200 |
| Familial Glucocorticoid Deficiency |
|
Hypernatriuria, Renal salt wasting, Recurrent urinary tract infections |
ORPHA:361 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hydroureter, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercalciuria |
OMIM:615398 |
| Oculoskeletodental Syndrome |
|
Renal agenesis, Mucopolysacchariduria, Splenomegaly, Hypercalciuria |
OMIM:618440 |
| Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia |
ORPHA:352540 |
| Gitelman Syndrome |
|
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Nocturia, Focal segme... |
ORPHA:358 |
| Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hyperphosphaturia, Periapical tooth abscess, Hypocalciuria, Nephrocalcin... |
ORPHA:437 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction |
OMIM:307800 |
| Sarcoidosis, Susceptibility To, 1 |
|
Bronchiectasis, Iridocyclitis, Increased circulating antibody level, Arthritis, Abnormality of T ... |
OMIM:181000 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria |
OMIM:156400 |
| Mccune-Albright Syndrome |
|
Renal phosphate wasting, Renal tubular dysfunction, Hyperphosphaturia, Pancytopenia |
ORPHA:562 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephroblastoma, Renal hamartoma, Renal cyst, Polydipsia, Dysphagia, Nephrocalcinosis, Renal insuf... |
ORPHA:99880 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased urinary 11-deoxycorticosterone level, Renal salt wasting, Long penis |
ORPHA:90795 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Penoscrotal hypospadias, Renal salt wasting |
ORPHA:90791 |
| Addison Disease |
|
Normocytic anemia, Renal salt wasting, Thiamine-responsive megaloblastic anemia, Salt craving, De... |
ORPHA:85138 |
| Parathyroid Carcinoma |
|
Nephroblastoma, Renal hamartoma, Renal cyst, Polydipsia, Dysphagia, Nephrocalcinosis, Renal insuf... |
ORPHA:143 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Hypercalciuria, Increased urine deoxypyridinoline level |
OMIM:239000 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Urogenital sinus anomaly, Midshaft hypospadias, Hypernatr... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Urogenital sinus anomaly, Midshaft hypospadias, Hypernatr... |
ORPHA:289548 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased urinary potassium |
ORPHA:231625 |
| Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he... |
ORPHA:90041 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hyperphosphaturia, Proximal renal tubu... |
OMIM:229600 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting |
OMIM:612089 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Horseshoe kidney |
OMIM:163200 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Anemia, Aminoaciduria, Renal insufficiency, Abnormal renal tubule morphology, Hem... |
ORPHA:534 |
| Opsismodysplasia |
|
Renal phosphate wasting |
OMIM:258480 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion, Tooth abscess |
ORPHA:289176 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Congenital megaureter, Renal dysplasia, Renal cyst, Abnormality of the urinary system, Nephrocalc... |
ORPHA:369837 |
| Progeroid Short Stature With Pigmented Nevi |
|
Recurrent viral infections, Impaired T cell function, Allergic conjunctivitis, Allergic rhinitis |
OMIM:176690 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamines, Elevated urinary vanillylmandelic acid, Elevated urinary epineph... |
ORPHA:653 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Hypocalciuria, Tooth abscess |
ORPHA:89936 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Impulsivity, Hypophosphaturia, Hypocalciuria, Attention deficit hyperactivity disorder |
ORPHA:73223 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Anemia, Renal dysplasia, Elliptocytosis, Nephrocalcinosis, Hypercalciuria |
OMIM:300990 |
| Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Stage 5 chronic kidney disease, Hyperphosphaturia, Proximal renal tubular acidosis... |
OMIM:309000 |
| Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Urinary retention |
ORPHA:79102 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Urogenital sinus anomaly, Elevated urinary epinephrine, Hypernatriuria, Renal salt wasting, Long ... |
ORPHA:90794 |
| Sarcoidosis |
|
Tubulointerstitial nephritis, Leukopenia, Anemia, Renal insufficiency, Hemolytic anemia, Increase... |
ORPHA:797 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Polycythemia, Neph... |
ORPHA:116 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Psoriasiform dermatitis, Abnormality of T cell physiology |
ORPHA:2237 |
| Williams Syndrome |
|
Vesicoureteral reflux, Renal duplication, Recurrent urinary tract infections, Hypoplasia of penis... |
ORPHA:904 |
| Williams-Beuren Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Nephrocalcinosis, Bladder diverticulum... |
OMIM:194050 |
| Osteogenesis Imperfecta |
|
Thrombocytopenia, Nephrolithiasis, Hypercalciuria, Dysphagia |
ORPHA:666 |
| Leprechaunism |
|
Nephrocalcinosis, Enlarged kidney, Hypercalciuria, Long penis |
ORPHA:508 |
| Cystic Fibrosis |
|
Hypercalciuria, Hepatosplenomegaly |
OMIM:219700 |
| Multiple Endocrine Neoplasia Type 1 |
|
Nephrolithiasis, Hypercalciuria |
ORPHA:652 |
| Generalized Arterial Calcification Of Infancy |
|
Nephrocalcinosis, Hyperphosphaturia, Cortical nephrocalcinosis, Medullary nephrocalcinosis |
ORPHA:51608 |
