Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Gout, Renal cyst, Focal se... |
OMIM:617056 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... |
ORPHA:79233 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury |
ORPHA:54057 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ... |
OMIM:617744 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Fragile X Syndrome |
|
Sinusitis, Protruding ear, Folate-dependent fragile site at Xq28, Otitis media, Macroorchidism, C... |
ORPHA:908 |
Fanconi Anemia, Complementation Group D1 |
|
Failure to thrive, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange, Malar rash, Decreased body weight |
OMIM:618097 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia |
OMIM:616050 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Periventricular heterotopia, Folate-dependent fragile site at Xq28,... |
OMIM:300624 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Failure to thrive, Chromosomal breakage induced by crosslinking agents, Decreased body weight |
OMIM:619060 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... |
ORPHA:275555 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Hearing impairment |
OMIM:616435 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
Xeroderma Pigmentosum, Complementation Group F |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Decreased body weight, Defective DNA r... |
OMIM:278760 |
Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Immunodeficiency 54 |
|
Chromosome breakage, Failure to thrive |
OMIM:609981 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... |
OMIM:618061 |
N Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability, Hearing impairment |
OMIM:310465 |
Fanconi Anemia, Complementation Group O |
|
Neonatal death, Chromosome breakage, Cryptorchidism |
OMIM:613390 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability, Decreased circulating antibody level, Decreased circulating ... |
ORPHA:859 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Prol... |
OMIM:227650 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Decreased fe... |
OMIM:210900 |
Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
Fanconi Anemia, Complementation Group E |
|
Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Prolonged G2 phase of ... |
OMIM:600901 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Fanconi Anemia, Complementation Group C |
|
Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Prolonged G2 phase of ... |
OMIM:227645 |
Radial-Renal Syndrome |
|
External ear malformation, Chromosome breakage |
OMIM:179280 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Failure to thrive |
OMIM:617883 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:620133 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Splenomegaly, Ocular albinism, Hepatosplenomegaly, Enlarged plate... |
OMIM:608233 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Cryptorchidism, Patent ductus arteriosus, Microtia, Bone marrow hypocellularity, Condu... |
OMIM:603467 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... |
OMIM:616733 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Patent ductus arterios... |
OMIM:227646 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... |
ORPHA:49041 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Bone marrow hypocellularity, Low-set ears |
OMIM:615272 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
Ataxia-Telangiectasia |
|
Failure to thrive, Abnormality of chromosome stability, Abnormal testis morphology, Decreased cir... |
ORPHA:100 |
Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Bone marrow hypocellularity, Chromosomal breakage induced by cross... |
OMIM:609053 |
Bone Marrow Failure Syndrome 3 |
|
Chromosome breakage, Eczema, Cryptorchidism, Cupped ear, Bone marrow hypocellularity, Failure to ... |
OMIM:617052 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... |
ORPHA:97362 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... |
ORPHA:411634 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Optic nerve hypoplasia, Abnormal T cell subset distribution, B lymphocytopenia, Decreased proport... |
ORPHA:221139 |
Orthostatic Hypotension 2 |
|
Decreased glomerular filtration rate |
OMIM:618182 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Sinusitis, Recurrent urinary tract infections, Glomerulonephritis, Fasciitis... |
ORPHA:36234 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Riddle Syndrome |
|
Pneumonia, Recurrent pneumonia, Weight loss, Decreased circulating total IgM, Arthritis, Chromoso... |
ORPHA:420741 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Skin rash, Elevated circulating creatinine concentration, Hyperb... |
ORPHA:542323 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase concentration, Lo... |
OMIM:608836 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine concentration, Ab... |
ORPHA:29073 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91547 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Cachexia, Defective DNA repair after ultraviolet radiation damag... |
OMIM:610965 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage, Patent ductus arteriosus |
OMIM:617247 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Hearing impairment |
OMIM:613951 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Fanconi Anemia, Complementation Group R |
|
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
Glycogen Storage Disease Ia |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Hyperuric... |
OMIM:232200 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... |
OMIM:301074 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ... |
ORPHA:91500 |
Xeroderma Pigmentosum, Complementation Group A |
|
Keratitis, Sensorineural hearing impairment, Conjunctivitis, Defective DNA repair after ultraviol... |
OMIM:278700 |
Xeroderma Pigmentosum, Complementation Group D |
|
Keratitis, Sensorineural hearing impairment, Defective DNA repair after ultraviolet radiation dam... |
OMIM:278730 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Xeroderma Pigmentosum, Complementation Group E |
|
Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Glycogen Storage Disease Ib |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Inflammat... |
OMIM:232220 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Microtia, Anotia, Bone marrow hypocellularity, Low-set ears, Chromosomal bre... |
OMIM:614083 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Gout, Hematuria, Focal se... |
OMIM:232240 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... |
OMIM:154230 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary... |
OMIM:618885 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
Xeroderma Pigmentosum, Complementation Group C |
|
Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Eczema, Cryptorchidism, Defective DNA repair after ultraviol... |
ORPHA:33364 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Pneumonia, Skin rash, Elevated circulating creatinine concentration, Glomerular scle... |
ORPHA:247691 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... |
ORPHA:90038 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Keratitis, Sensorineural hearing impairment, Defective DNA repair after... |
OMIM:278800 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Elevated circulating ... |
ORPHA:340 |
Macrophage Activation Syndrome |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... |
ORPHA:158061 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Rhinitis, Increas... |
ORPHA:230 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Hypergonadotropic hypogonadism, Patent ductus arteriosus, Hy... |
OMIM:300514 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
Icf Syndrome |
|
Abnormality of chromosome stability, Low-set ears, Decreased circulating antibody level |
ORPHA:2268 |
Sickle Cell Anemia |
|
Osteomyelitis, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Reduce... |
OMIM:619381 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
Meningioma |
|
Hypogonadotropic hypogonadism, Obesity, Impotence, Chromosomal breakage induced by ionizing radia... |
ORPHA:2495 |
Alkaptonuria |
|
Arthritis, Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:203500 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Bronchiectasis, Elevated circulating C-reactive pr... |
ORPHA:79126 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
Lig4 Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability |
ORPHA:99812 |
Marburg Hemorrhagic Fever |
|
Renal insufficiency, Pericarditis, Skin rash, Maculopapular exanthema, Elevated circulating creat... |
ORPHA:99826 |
Yellow Fever |
|
Renal insufficiency, Anuria, Skin rash, Acute pancreatitis, Elevated circulating creatine kinase ... |
ORPHA:99829 |
Cystinosis, Adult Nonnephropathic |
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Elevated circulating creatinine concentration |
OMIM:219750 |
Cardiogenic Shock |
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Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Nijmegen Breakage Syndrome |
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Abnormality of chromosome stability, Cachexia, Recurrent pneumonia, Abnormality of neuronal migra... |
ORPHA:647 |
Cartilage-Hair Hypoplasia |
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Low-set, posteriorly rotated ears, Abnormality of chromosome stability, Macrotia, Decreased circu... |
ORPHA:175 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Fanconi Anemia |
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Abnormality of chromosome stability, External ear malformation, Cryptorchidism, Patent ductus art... |
ORPHA:84 |
Revesz Syndrome |
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Abnormality of chromosome stability, Bone marrow hypocellularity |
OMIM:268130 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating ferritin co... |
OMIM:619534 |