banner
Genes Phenotypes Help, News, Blog

Gene: Scgb1a1 MGI:98919

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
secretoglobin, family 1A, member 1
Synonyms:
CCSP,  CC16,  UG,  club cell secretory protein,  Blastokinin,  CC10,  Utg,  PCB-BP

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Scgb1a1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Scgb1a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Increased circulating IgA level OMIM:314000
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Atypical Hemolytic Uremic Syndrome
Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s... ORPHA:2134
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Stage 5 chronic kidney disease, Me... OMIM:613496
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Complement Factor H Deficiency
Chronic kidney disease, Thickened glomerular basement membrane, Hematuria, Depletion of component... OMIM:609814
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... OMIM:608709
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level OMIM:235900
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... OMIM:613913
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... OMIM:610163
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
2P21 Microdeletion Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria ORPHA:163693
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria ORPHA:419
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respon... OMIM:603233
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... ORPHA:84090
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p... OMIM:615008
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Podocyte foot process effacement, Stage 5 chronic kidney disease, Th... OMIM:619155
Hydroxyprolinemia
Hydroxyprolinemia, Microscopic hematuria OMIM:237000
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacem... OMIM:617006
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive OMIM:612075
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Increased circulating IgA level, Splenomegaly, Hepatosplenomegal... OMIM:618534
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... OMIM:143880
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Mono... ORPHA:91139
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... ORPHA:35710
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Increased circulating antibody ... ORPHA:100024
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive ORPHA:172
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Weight loss, Hematuria, Neoplasm of the liver ORPHA:69077
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight ORPHA:1672
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Decreased circulating complement C3 concentration, Microscopic hemat... ORPHA:79087
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... OMIM:613493
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... ORPHA:2239
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, In... OMIM:308230
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:619707
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:617765
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai... OMIM:239199
Transcobalamin Deficiency
Methylmalonic aciduria, Decreased circulating antibody level, Decreased circulating total IgM, De... ORPHA:859
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Juvenile Nephropathic Cystinosis
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Failure to thrive, Hypourice... ORPHA:411634
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis OMIM:247800
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Nephrolithiasis, Cystinuria, Hypocalcemia,... OMIM:606407
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic ... ORPHA:97362
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:613502
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Angioma, Hereditary Neurocutaneous
Hematuria OMIM:106070
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... ORPHA:94080
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Hypocalcemia, Dysgammaglobulinemia ORPHA:100025
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia ORPHA:284400
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Proteinuria, Macronodular cirrhosis, Nephrotic syndrome, Mucopolysacch... OMIM:215250
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP res... ORPHA:94090
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... OMIM:614377
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria ORPHA:79238
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,... ORPHA:276621
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury ORPHA:54057
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria ORPHA:1933
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Cr... OMIM:123550
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Preeclampsia
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... ORPHA:275555
Dent Disease
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... ORPHA:1652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Nephroblastoma
Hematuria, Neoplasm of the liver, Nephroblastoma, Weight loss ORPHA:654
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Increased... OMIM:618048
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine... OMIM:614455
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In... OMIM:620010
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... ORPHA:3467
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... ORPHA:730
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
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Decreased circulating antibody level, Weight loss, Decreased circulating tot... ORPHA:90362
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level OMIM:613500
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Nep... OMIM:603909
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... ORPHA:42
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia ORPHA:510
Myeloma, Multiple
Paraproteinemia OMIM:254500
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Decreased body weight, Proteinuria, Abnormality of body... ORPHA:2298
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia ORPHA:2668
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Severe Combined Immunodeficiency, X-Linked
Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea... OMIM:300400
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg... OMIM:618347
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Papillary renal c... OMIM:145001
Blue Diaper Syndrome
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... OMIM:300555
Heme Oxygenase 1 Deficiency
Hepatomegaly, Increased circulating interleukin 6 concentration, Proteinuria, Elevated circulatin... OMIM:614034
Pseudohypoparathyroidism, Type Ic
Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respon... OMIM:612462
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria OMIM:120433
Anti-Glomerular Basement Membrane Disease
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:375
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Hypercalcemia, Small for gestational age, Cryptorchidism, Splenomeg... OMIM:618440
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... OMIM:610205
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating IgE level, Hepatosplenomegaly, Increased c... ORPHA:169154
Idiopathic Achalasia
Decreased prealbumin level, Weight loss ORPHA:930
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Hematuria, Nephropathy, Nephrolithiasis ORPHA:2196
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased cir... OMIM:618944
Pulmonary Blastoma
Weight loss ORPHA:64741
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidemia, Increased hepatic glycogen ... ORPHA:369
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypospadias, Small for gestational age, Cryptorchidism, Patent ductus arterios... OMIM:607143
Diffuse Alveolar Hemorrhage
Proteinuria, Elevated circulating creatinine concentration, Weight loss, Hematuria, Decreased cir... ORPHA:90060
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,... ORPHA:29072
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St... OMIM:308940
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalc... ORPHA:36913
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst OMIM:611773
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... OMIM:617388
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Proteinuria, Microscopic hematuria, Cachexia, Splenomegaly, Weight ... ORPHA:77297
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Hem... OMIM:232800
Immunodeficiency 43
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Abnormal circula... OMIM:241600
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:612692
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Membranoproliferative glomerulonephr... ORPHA:48435
Blue Diaper Syndrome
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia ORPHA:94086
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
X-Linked Agammaglobulinemia
Hepatitis, Weight loss, Agammaglobulinemia, Hypocalcemia, Failure to thrive ORPHA:47
Hyperparathyroidism 4
Nephrolithiasis, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:617343
Moynahan Syndrome
Cachexia ORPHA:2574
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Circulating immu... ORPHA:91138
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... ORPHA:99879
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Nephropathy, Hypocalcemia ORPHA:2238
Galactosemia I
Hepatomegaly, Increased level of galactitol in plasma, Aminoaciduria, Albuminuria, Galactosuria, ... OMIM:230400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Increased circulating antibody level, Failure to thrive, Enlarged kidney OMIM:615285
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Jaundice, Nephroc... OMIM:613404
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Refractory Celiac Disease
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia, Ab... ORPHA:398063
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
Tuberculosis
Weight loss ORPHA:3389
Orotic Aciduria
Orotic acid crystalluria, Impaired T cell function, Oroticaciduria, Hematuria, Failure to thrive OMIM:258900
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... ORPHA:49041
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Cholestatic liver dise... OMIM:619858
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level, Decreas... OMIM:617744
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypocalcemia, Secondary hyperparathyroidism, Hypophosphatemia, Failure... OMIM:264700
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... ORPHA:63
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Glanzmann Thrombasthenia
Impaired thrombin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... ORPHA:849
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism OMIM:203330
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Proteinuria, Small for gestational age, Impaired T cell function, Minimal chan... ORPHA:1830
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... ORPHA:251004
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... ORPHA:247353
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Splenomegaly, Increased circulating IgE level, Abnormal b... ORPHA:37042
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Nephropathy, Renal insufficiency, Hypocalcemia ORPHA:1563
Cystinuria
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia ORPHA:214
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Patent ductus arteriosus ORPHA:2123
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Nephrocalc... OMIM:616026
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia ORPHA:557003
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Crypt... OMIM:617575
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... OMIM:613845
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... OMIM:277400
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Adrenocorticotropic hormone excess, Weight loss ORPHA:100083
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hematuria, Patent ductus arteriosus, Hypoalbuminemia, Small for gestational age OMIM:617021
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis, Failure to thrive OMIM:602361
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration OMIM:160010
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thicken... OMIM:146255
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Splenomegaly, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... OMIM:619824
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... OMIM:145980
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... OMIM:618969
Glycogen Storage Disease Xi
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria ORPHA:1473
Renpenning Syndrome
Hypospadias, Decreased testicular size, Cachexia ORPHA:3242
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss ORPHA:411593
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria ORPHA:225
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Frasier Syndrome
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... OMIM:136680
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Central Diabetes Insipidus
Hyponatremia, Failure to thrive, Nocturia, Weight loss ORPHA:178029
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Failure to thrive, Increased circulating IgA level OMIM:616395
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Decreased circulating antibody leve... OMIM:618183
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... OMIM:145981
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia OMIM:175500
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... ORPHA:73224
Aredyld Syndrome
Splenomegaly, Hepatomegaly, Abnormality of the ureter, Cachexia ORPHA:1133
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... ORPHA:74
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Failure to thrive in infancy, Elevated circulating C-reactive pr... OMIM:617099
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Legionnaires Disease
Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Hematuria, Bon... ORPHA:549
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Obesity, Hyperuri... ORPHA:261222
Igg4-Related Aortitis
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... ORPHA:449400
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper... OMIM:239200
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level ORPHA:555905
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Abnormality of T cell physiology, Unila... ORPHA:2237
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Failure to thrive, Elevated circulating C-reactive protein conce... OMIM:615934
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Intrahepatic cholestasis, ... OMIM:227810
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Hypokalemia, Am... ORPHA:213
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pituitary null cell adenoma, Hypercalcemia, Pancreatic islet cell adenom... ORPHA:97289
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circ... ORPHA:98813
Immunodeficiency 96
Multicystic kidney dysplasia, Decreased circulating total IgM, Defective T cell proliferation, De... OMIM:619774
Castleman Disease
Renal insufficiency, Increased circulating interleukin 6 concentration, Elevated circulating C-re... ORPHA:160
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemia, Secondary hyperparathyroidism, Hypophosphatemia, Failure... ORPHA:289157
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Weight loss ORPHA:2023
Relapsing Fever
Elevated circulating C-reactive protein concentration, Jaundice, Elevated circulating creatinine ... ORPHA:91547
Attrv30M Amyloidosis
Nephropathy, Abnormal renal physiology, Weight loss ORPHA:85447
Pseudohypoparathyroidism Type 1B
Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Hype... ORPHA:94089
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Cryptorchidism... OMIM:614732
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... ORPHA:3337
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Renal Nutcracker Syndrome
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... ORPHA:83469
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hyperphosphatemia, Hypocal... OMIM:241410
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Partial absence of specific antibody response to unconjugated pn... OMIM:240500
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Pgm3-Cdg
Membranoproliferative glomerulonephritis, Increased circulating IgA level, Increased circulating ... ORPHA:443811
Xq28 (MECP2) duplication
Failure to thrive, Functional abnormality of the bladder, Decreased circulating IgA level DECIPHER:45
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Recurrent urinary tract infections, Elevated circulating C-reactive protein concent... OMIM:615559
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Hypocalcemic Vitamin D-Resistant Rickets
Nephrolithiasis, Hyperparathyroidism, Hypocalcemia, Hypophosphatemia ORPHA:93160
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... ORPHA:284426
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Jaundice, Bi... ORPHA:186
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Glycogen Storage Disease V
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:232600
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria, Cachexia, Hypoalbuminemia, Failure to thrive OMIM:610965
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Renal insufficiency, Glomerulonephritis, Increased circulating IgA level, Hypersple... ORPHA:3261
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Compleme... ORPHA:36412
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Incr... ORPHA:26793
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Hypocalcemia, Micropenis... OMIM:235255
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis, Hyperalaninemia ORPHA:298
Christianson Syndrome
Cachexia ORPHA:85278
Gaucher Disease Type 1
Hepatomegaly, Proteinuria, Hypersplenism, Splenomegaly, Hematuria, Increased circulating antibody... ORPHA:77259
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Polyuria,... OMIM:601678
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Nephrotic syndrome ORPHA:834
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci... OMIM:617913
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ... OMIM:274150
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ... ORPHA:31824
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... ORPHA:94093
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria, Cryptorchidism ORPHA:1192
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... ORPHA:93552
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Cryptorchidism, Splenomegaly, Abnormal renal morphology, Pancreatic lymphangiectasi... ORPHA:1655
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, S... OMIM:301050
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Gitelman Syndrome
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hyperma... ORPHA:358
Pseudohypoparathyroidism Type 1C
Calcinosis, Decreased response to growth hormone stimulation test, Reduced circulating prolactin ... ORPHA:79444
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... OMIM:241500
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Glomerulo... ORPHA:2260
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:173
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Increased circulating IgE level, Increas... OMIM:617241
Celiac Disease, Susceptibility To, 1
Weight loss, Failure to thrive, Hypocalcemia, Decreased circulating IgA level OMIM:212750
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla... ORPHA:79078
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Hypocalcemia, Hypophosphatemia OMIM:600081
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... OMIM:607594
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... ORPHA:1018
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Abno... ORPHA:400
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Increased circulating gonadotropi... ORPHA:347
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614069
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Acute pancrea... OMIM:619487
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... ORPHA:439232
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita... ORPHA:64744
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:352540
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh... OMIM:619377
Ethylene Glycol Poisoning
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... ORPHA:31826
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss ORPHA:1979
Hyper-Igd Syndrome
Increased circulating IgA level, Splenomegaly, Hepatosplenomegaly, Renal angiomyolipoma, Increase... OMIM:260920
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentrati... ORPHA:263455
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... ORPHA:85443
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy ORPHA:330001
Autosomal Dominant Hypocalcemia
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria ORPHA:428
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:618348
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Peritonitis, Proteinuria, Renal amyloidosis OMIM:134610
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Hematuria, ... OMIM:232240
Immunodeficiency 27A
Splenomegaly, Hepatosplenomegaly, Weight loss, Increased circulating IgG level, Increased circula... OMIM:209950
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Proteinuria, Weight loss, Hematuria, Tubulointerstitial neph... ORPHA:183
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... ORPHA:36234
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Anuria, Proteinuria, Glomerulonephritis, Chron... ORPHA:340
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia ORPHA:93941
Huntington Disease-Like 2
Weight loss ORPHA:98934
19Q13.11 Microdeletion Syndrome
Hypospadias, Supernumerary nipple, Cachexia, Cryptorchidism, Failure to thrive ORPHA:217346
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatin... OMIM:614376
Pseudohypoparathyroidism, Type Ia
Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Low urinary cyclic AMP response to PTH admi... OMIM:103580
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Hypersplenism, Microvesicular h... ORPHA:275761
Kimura Disease
Increased circulating IgE level ORPHA:482
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91500
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Urachal Cyst
Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Urachus fistula, Peritoni... ORPHA:488
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Congeni... ORPHA:2323
Q Fever
Hepatomegaly, Splenomegaly, Hepatitis, Weight loss, Hematuria, Hepatosplenomegaly, Abnormality of... ORPHA:781
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Parathyroid Carcinoma
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla... ORPHA:143
Pseudohypoparathyroidism Type 1A
Calcinosis, Decreased response to growth hormone stimulation test, Reduced circulating prolactin ... ORPHA:79443
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Hepatomegaly, Failure to thrive, Hypocalcemia OMIM:259700
Cronkhite-Canada Syndrome
Splenomegaly, Hepatomegaly, Cachexia ORPHA:2930
Hereditary Mucoepithelial Dysplasia
Hematuria, Abnormality of the bladder ORPHA:1839
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:618394
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... OMIM:256700
Reticular Dysgenesis
Failure to thrive, Weight loss, Decreased circulating antibody level ORPHA:33355
Klippel-Trénaunay Syndrome
Hematuria, Hepatomegaly, Patent ductus arteriosus ORPHA:90308
Intermediate Osteopetrosis
Hypocalcemia, Hepatosplenomegaly ORPHA:210110
Pelizaeus-Merzbacher Disease
Abnormality of the urinary system, Failure to thrive in infancy, Cachexia ORPHA:702
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Wolman Disease
Splenomegaly, Hepatomegaly, Cachexia ORPHA:75233
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Silver-Russell Syndrome
Failure to thrive in infancy, Hypospadias, Cachexia, Cryptorchidism, Obesity, Abnormality of the ... ORPHA:813
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Hepatomegaly, Methylmalonic aciduria, Decreased circulating tota... OMIM:275350
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis... ORPHA:2785
Inflammatory Pseudotumor Of The Liver
Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,... ORPHA:90003
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Chronic Hiccup
Weight loss ORPHA:396
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:86893
Stormorken Syndrome
Hematuria, Hypoplastic spleen, Elevated circulating creatine kinase concentration, Asplenia OMIM:185070
Ddost-Cdg
Hepatic steatosis, Failure to thrive, Nephrotic range proteinuria ORPHA:300536
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... ORPHA:368
Ruvalcaba Syndrome
Hematuria, Cryptorchidism, Abnormal localization of kidney ORPHA:3121
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Increased circulating interleukin 6 concentration, Anuria, Pancreatitis, Hyperkalem... ORPHA:544482
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Small for gestational age, Abnormal immunoglobulin level, Bilat... OMIM:242900
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Micronodular cirrhosis, Proteinuria OMIM:192315
Papa Syndrome
Increased circulating antibody level, Proteinuria ORPHA:69126
Tetrasomy 12P
Cachexia ORPHA:884
Timothy Syndrome
Patent ductus arteriosus, Hypocalcemia OMIM:601005
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic stea... ORPHA:746
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Acute Promyelocytic Leukemia
Hematuria, Weight loss ORPHA:520
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... OMIM:243910
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Increased circulating IgM leve... OMIM:617303
Kenny-Caffey Syndrome, Type 1
Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia OMIM:244460
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of the pancreas, Decreased circulating antibody level, Mucopolysacchari... ORPHA:175
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Focal Myositis
Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Mastocytosis, Weight loss ORPHA:66661
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Circulating immune complexe... ORPHA:2035
Isaacs Syndrome
Weight loss ORPHA:84142
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Renal phosphate wasting, Hypophospha... OMIM:612089
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot... OMIM:607426
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Double Outlet Right Ventricle
Hypoparathyroidism, Failure to thrive, Hypocalcemia ORPHA:3426
Microscopic Polyangiitis
Glomerulopathy, Renal insufficiency, Peritonitis, Oliguria, Hematuria, Pancreatitis ORPHA:727
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Hepatomegaly, Abnormal circulating calcium concentration, Weight loss, H... ORPHA:60025
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... ORPHA:71212
Liver Disease, Severe Congenital
Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic... OMIM:619991
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss ORPHA:2198
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Cachexia, Splenomegaly, Hepatosplenomegaly ORPHA:824
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, ... ORPHA:54251
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Cachexia ORPHA:300605
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, Failure to thrive secondary ... ORPHA:169160
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Hyperkalemia ORPHA:57
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Increased circulating IgG level, ... OMIM:618495
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... ORPHA:65682
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Hyperuricemia ORPHA:35909
Leishmaniasis
Hepatomegaly, Splenomegaly, Weight loss, Hypoalbuminemia, Increased circulating antibody level ORPHA:507
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:619510
Giant Cell Arteritis
Hematuria, Renal insufficiency, Weight loss ORPHA:397
X-Linked Intellectual Disability, Cabezas Type
Decreased testicular size, Hypoplasia of penis, Obesity, Cachexia ORPHA:85293
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:98895
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... ORPHA:900
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Microscopic hematuria ORPHA:86818
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Splenomegaly, Increa... OMIM:256550
Myh9-Related Disease
Nephropathy, Renal insufficiency, Proteinuria, Nephritis ORPHA:182050
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decreased urinary potassium... ORPHA:95409
Wiskott-Aldrich Syndrome
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... OMIM:301000
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Failure to thrive, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopath... OMIM:212065
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Fo... OMIM:232220
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Acquired Central Diabetes Insipidus
Pollakisuria, Weight loss ORPHA:95626
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:228305
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosp... OMIM:156400
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduced natural kill... OMIM:308240
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... ORPHA:18
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
X-Linked Creatine Transporter Deficiency
Abnormal circulating creatine concentration, Cachexia ORPHA:52503
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Splenic infarction, Hematuria, Choleli... OMIM:603903
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena... ORPHA:411629
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad... ORPHA:79403
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level... OMIM:619752
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Malakoplakia
Proteinuria, Dysuria, Orchitis, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary... ORPHA:556
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise... OMIM:201475
Adamantinoma
Hypercalcemia ORPHA:55881
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Small for gestational age, Hyperphosphatemia, Hyp... OMIM:127000
Hemophilia B
Hematuria ORPHA:98879
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria, Hepatic steatosis, Hepatic necrosis OMIM:231530
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Hypercalciuria... ORPHA:369837
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... OMIM:232200
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Holocarboxylase Synthetase Deficiency
Organic aciduria, Hyperammonemia, Weight loss ORPHA:79242
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Aminoaciduria, Proteinuria OMIM:603585
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Decreased circulating copper con... OMIM:300972
Pheochromocytoma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery... OMIM:171300
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Mild proteinuria, Hyper... OMIM:619147
Spondyloenchondrodysplasia
Proteinuria, Decreased response to growth hormone stimulation test, Chronic kidney disease, Hepat... ORPHA:1855
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Decreased circulating antibody level, Hepatospleno... ORPHA:331206
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypoammonemi... ORPHA:534
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:264580
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increased circulatin... OMIM:256040
Whipple Disease
Hyponatremia, Hepatomegaly, Cachexia, Splenomegaly ORPHA:3452
Gaucher Disease Type 3
Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Increased circulating antibody level ORPHA:77261
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:616100
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... ORPHA:488627
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Cryptorchidism, Increased circulating IgE level, Abnormality of the ureter, ... ORPHA:3409
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hepatic steatosis, Recurrent urinary tract infections, Small for gestational age, Portal hyperten... OMIM:613658
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypocalcemia, Hydronep... OMIM:300712
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Weight loss ORPHA:545
Prolidase Deficiency
Hepatomegaly, Hyperimidodipeptiduria, Splenomegaly, Increased circulating antibody level, Prolong... OMIM:170100
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla... ORPHA:99880
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Absent specific antibody response, Failure to thrive, Hepatomegaly, ... OMIM:102700
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... OMIM:233450
Rift Valley Fever
Jaundice, Hepatitis, Hematuria, Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:259900
Systemic Capillary Leak Syndrome
Renal insufficiency, Oliguria, Weight loss, Pancreatitis, Abnormal renal tubule morphology ORPHA:188
Wilson Disease
Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hepatic steato... OMIM:277900
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:617729
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Hennekam Syndrome
Ectopic kidney, Splenomegaly, Horseshoe kidney, Decreased circulating antibody level, Hypocalcemia ORPHA:2136
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic... ORPHA:2614
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal immunoglobulin level, Jaundice, Increased... ORPHA:276
Autoimmune Hepatitis
Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis... ORPHA:2137
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni... ORPHA:171876
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chronic kidney d... OMIM:218330
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypocalcemia, Hyperbil... ORPHA:163979
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Increased circulating IgM level... ORPHA:397596
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Cryptorchidism, Hyperkalemi... ORPHA:361
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:608266
Polyarteritis Nodosa
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:767
Microsporidiosis
Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Urethriti... ORPHA:2552
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Reduced C-peptide level, Weight loss, Neoplasm of the liver, Urin... ORPHA:2126
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hypokalemia, Weight loss OMIM:188580
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Failure to thrive, Increased circulating IgE level, Lack of T ce... ORPHA:277
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Congenital Alpha2-Antiplasmin Deficiency
Hematuria ORPHA:79
Chronic Mucocutaneous Candidiasis
Hematuria, Recurrent urinary tract infections, Hepatitis ORPHA:1334
Huntington Disease-Like 2
Weight loss OMIM:606438
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Glycogen Storage Disease Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Alg12-Cdg
Hyponatremia, Hypospadias, Partial absence of specific antibody response to Haemophilus influenza... ORPHA:79324
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Increased circulating IgE level OMIM:616069
Adrenocortical Carcinoma
Increased urinary cortisol level, Adrenocorticotropic hormone deficiency, Increased body weight, ... ORPHA:1501
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:79240
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Impaired T cell function, Cryptorchidism, Splenomegaly, Patent d... ORPHA:567
Erythrokeratodermia Variabilis
Abnormal testis morphology, Weight loss ORPHA:317
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Weight loss ORPHA:42642
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria OMIM:618886
Liposarcoma
Abnormality of the kidney, Weight loss ORPHA:69078
Yao Syndrome
Nephrolithiasis, Weight loss OMIM:617321
Immunodeficiency 97 With Autoinflammation
Recurrent urinary tract infections, Hypertriglyceridemia, Increased circulating ferritin concentr... OMIM:619802
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ... ORPHA:99885
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Aplasia of the thymus, Atypical or prolonged hepatitis, Decre... ORPHA:83471
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Hematuria, Decreased circulating complement C3 concentratio... ORPHA:536
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Thymoma
Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Weight los... ORPHA:99867
Congenital Factor V Deficiency
Hematuria ORPHA:326
Pleural Mesothelioma
Hepatomegaly, Weight loss ORPHA:50251
Fetal And Neonatal Alloimmune Thrombocytopenia
Hematuria ORPHA:853
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hypokalemia, Weight loss OMIM:613239
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Conjugated hyper... OMIM:208500
Immunodeficiency 92
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... OMIM:619652
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, He... OMIM:194380
Addison Disease
Hyponatremia, Hypoparathyroidism, Primary testicular failure, Hypercalcemia, Renal salt wasting, ... ORPHA:85138
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Cryptorchidism, Hypospadias, Decreased circulating IgA level ORPHA:457485
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia, Abnormality of the kidney ORPHA:2591
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Rett Syndrome
Cachexia OMIM:312750
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... ORPHA:284
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Patent ductus arteriosus, Hepatosplenomegaly, In... ORPHA:505248
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... OMIM:620300
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... ORPHA:90068
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney, Increased circulating IgG4 level, Cholangitis, Re... ORPHA:449432
Isolated Succinate-Coq Reductase Deficiency
Vesicoureteral reflux, Weight loss ORPHA:3208
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Hypercalcemia, Pituitary adenoma, Adrenocorticotropic hormone d... ORPHA:199299
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma... ORPHA:913
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Caffey Disease
Increased circulating antibody level ORPHA:1310
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Cachexia, Abnormality of the ureter, Nephroli... ORPHA:800
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Impaired T cell function, Unilateral ... OMIM:188400
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Weight loss ORPHA:26790
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Bernard-Soulier Syndrome
Partially duplicated kidney, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced... ORPHA:274
Distal Limb Deficiencies-Micrognathia Syndrome
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Hereditary Hemorrhagic Telangiectasia
Portal hypertension, Nephrolithiasis, Hematuria, Cholecystitis, Cirrhosis, Cholelithiasis ORPHA:774
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2902
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Abnormality of complement sy... ORPHA:79086
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Trisomy 18
Cachexia, Hydronephrosis, Abnormality of the upper urinary tract, Cryptorchidism ORPHA:3380
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Nephrotic syndrome, ... ORPHA:324
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated crea... OMIM:251900
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Increased circulating antibody level OMIM:614470
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia OMIM:259720
Classic Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Weight loss ORPHA:391
Immunodeficiency 22
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:615758
Immunoglobulin A Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Hematuria ORPHA:761
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... OMIM:603041
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Intrahepatic cholestasis, Mild proteinuria, Increased serum bile acid c... OMIM:619685
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Hypocalcemia, Impaired T cell function OMIM:192430
Adult-Onset Nemaline Myopathy
Paraproteinemia, Mildly elevated creatine kinase ORPHA:171442
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia ORPHA:713
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Juvenile Huntington Disease
Weight loss ORPHA:248111
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Failure to thrive, Decreased circulating IgA level OMIM:242860
Congenital Factor Ii Deficiency
Microscopic hematuria ORPHA:325
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Nephrot... OMIM:251300
Lujo Hemorrhagic Fever
Renal insufficiency, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, ... ORPHA:319213
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Increased body weight, Hepatitis, Weight loss, Cirrhosis, A... ORPHA:905
Moderate Hemophilia A
Hematuria ORPHA:169805
Imerslund-Gräsbeck Syndrome
Failure to thrive, Proteinuria, Weight loss ORPHA:35858
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97278
Autoerythrocyte Sensitization Syndrome
Hematuria, Impaired platelet adhesion ORPHA:324636
Cockayne Syndrome
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... ORPHA:191
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Nodular regenerative hyperplasia of liver, Elevated circulating creatinine concentra... ORPHA:247691
Immunodeficiency 36 With Lymphoproliferation
Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level OMIM:616005
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Increased circulating IgE level, Glomerulonephritis, Hepatitis OMIM:304790
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Jaundice, Hemoglobinuria, Unconjugated hyperbilirubinemia, Prolonged neonatal jaund... OMIM:300908
Gaucher Disease
Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentration, Splenomegaly, H... ORPHA:355
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Patent ductus arteriosus, Failure to thrive, Weight loss ORPHA:1842
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, In... ORPHA:86816
Netherton Syndrome
Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level, Aminoacidu... ORPHA:634
Riddle Syndrome
Elevated circulating alpha-fetoprotein concentration, Enuresis nocturna, Weight loss, Decreased c... ORPHA:420741
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgA level OMIM:618282
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, ... ORPHA:79259
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Hypercalcemia OMIM:602080
Bardet-Biedl Syndrome 20
Proteinuria, Bilateral cryptorchidism, Obesity, Hypercholesterolemia, Micropenis, Pancreatitis OMIM:619471
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Failure to thrive in infancy, Decreased lymphocyte proliferation in response to anti-CD3, Increas... OMIM:606367
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Proteinuria, Elevated circulating creatine kinase concentration... ORPHA:99827
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Increased circul... ORPHA:465508
Smith-Kingsmore Syndrome
Cryptorchidism, Large for gestational age, Decreased circulating IgA level OMIM:616638
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Hepatitis, Weight loss, Tubulointerstitial nephritis, Nephrotic syndrome ORPHA:139402
Amme Complex
Hematuria OMIM:300194
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:436159
Fabry Disease
Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria OMIM:301500
Fatal Familial Insomnia
Urinary retention, Weight loss OMIM:600072
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97282
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Patent ductus arteriosus, Tubulo... ORPHA:33001
Ohdo Syndrome
Cryptorchidism, Proteinuria OMIM:249620
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Congenital Factor X Deficiency
Hematuria, Hemoperitoneum ORPHA:328
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Hypercalcemia, Thyroid C cell hyperplasia, Elevated urinary... ORPHA:653
Graves Disease, Susceptibility To, 1
Goiter, Weight loss OMIM:275000
Wagro Syndrome
Decreased testicular size, Nephroblastoma, Proteinuria, Obesity OMIM:612469
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Monosomy 13Q34
Fetal pyelectasis, Hepatic steatosis, Hypercalcemia, Obesity ORPHA:96168
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97283
Multiple Endocrine Neoplasia Type 4
Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma... ORPHA:276152
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Perry Syndrome
Weight loss ORPHA:178509
Acquired Von Willebrand Syndrome
Hematuria ORPHA:99147
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97261
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Failure to thrive, Hypercalcemia ORPHA:476126
Boutonneuse Fever
Increased circulating IgG level, Renal insufficiency, Increased circulating IgM level ORPHA:83313
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Huntington Disease
Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss ORPHA:399
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria,... OMIM:619525
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... ORPHA:79102
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Patent ductus arterio... OMIM:214100
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Decreased circulating total IgM, Failure to thrive, Decreased te... OMIM:620040
Mevalonic Aciduria
Failure to thrive in infancy, Elevated circulating creatine kinase concentration, Elevated circul... OMIM:610377
Severe Hemophilia A
Macroscopic hematuria ORPHA:169802
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hypospadias, Splenomegaly, Weight loss, Hepatosplenomegaly, Unconjugated hyperbilir... OMIM:613673
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Mucoepithelial Dysplasia, Hereditary
Hematuria OMIM:158310
Acute Monoblastic/Monocytic Leukemia
Oliguria, Weight loss ORPHA:514
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Jaundice, Chronic kidney... ORPHA:447
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Splenomegaly, Hep... OMIM:613385
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... ORPHA:90038
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level OMIM:618523
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Glycogen Storage Disease Xii
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Hemoglo... OMIM:611881
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Splenomegaly, Decreased circulating total IgM, Decreased specifi... OMIM:614700
Cockayne Syndrome Type 1
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Increased blood urea nitrogen, Fa... ORPHA:90321
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Hypocalcemia ORPHA:2306
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Hyperammonemia, Weight loss, Hyperuricemia ORPHA:134
Primary Sclerosing Cholangitis
Hepatomegaly, Renal insufficiency, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcin... ORPHA:171
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Ketonuria, Jaundice, Lipid accumulation in hepatocytes, Hyperam... ORPHA:20
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma ORPHA:538
Relapsing Polychondritis
Glomerulopathy, Renal insufficiency, Proteinuria, Hepatitis, Hematuria ORPHA:728
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Weight loss ORPHA:33276
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Weight loss ORPHA:3226
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... OMIM:613327
Juvenile Polyposis Of Infancy
Patent ductus arteriosus, Hypoalbuminemia, Cachexia ORPHA:79076
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Decreased lymphocyte proliferation in response to anti-CD3, U... ORPHA:221139
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Weight loss ORPHA:2221
Lead Poisoning
Decreased HDL cholesterol concentration, Small for gestational age, Increased circulating IgE lev... ORPHA:330015
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... ORPHA:370348
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2070
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Increased circulating IgE level, Increased circulating ... OMIM:615816
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypospadias, Overweight, Jaundice, Obesity, Hematuria, Hyperbilirubinemia, Decreased body weight,... OMIM:619475
Pneumocystosis
Increased circulating antibody level, Weight loss ORPHA:723
Melas
Hypoparathyroidism, Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Recurr... ORPHA:550
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki... ORPHA:423
Pyomyositis
Renal insufficiency, Testicular teratoma, Weight loss ORPHA:764
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Weight loss, Pheochromocytoma,... ORPHA:1332
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Proteinuria, Multiple bladder diverticula ORPHA:2728
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Failure to thrive, Decreased response to growth hormone stimulation test, Unilateral renal agenes... OMIM:619503
Pancreatoblastoma
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss ORPHA:677
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Failure to thrive ORPHA:95427
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM OMIM:243700
Monosomy 18Q
Bilateral cryptorchidism, Patent ductus arteriosus, Micropenis, Failure to thrive, Slender build,... ORPHA:1600
Rheumatoid Arthritis
Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Polymyositis
Hepatomegaly, Weight loss, Elevated circulating creatine kinase concentration, Abnormal renal tub... ORPHA:732
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Increased circulating IgE level OMIM:614328
Systemic Sclerosis
Renal insufficiency, Proteinuria, Elevated circulating creatine kinase concentration, Glomerulone... ORPHA:90291
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:2494
Johanson-Blizzard Syndrome
Hepatomegaly, Hypospadias, Small for gestational age, Increased VLDL cholesterol concentration, U... OMIM:243800
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulat... OMIM:300755
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:1302
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Splenomegaly, Urinary retention, Slender build ORPHA:1328
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level OMIM:147060
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Felty Syndrome
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Weight loss, Bone marrow hypocell... ORPHA:47612
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Nijmegen Breakage Syndrome
Pollakisuria, Cachexia ORPHA:647
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight ORPHA:244242
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:607155
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin... ORPHA:289176
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... ORPHA:131
Aggressive Systemic Mastocytosis
Portal hypertension, Hypersplenism, Hepatosplenomegaly, Weight loss, Increased proportion of CD25... ORPHA:98850
Huntington Disease-Like 1
Weight loss ORPHA:157941
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97280
Seckel Syndrome
Cachexia ORPHA:808
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Hyp... OMIM:612301
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Weight loss ORPHA:142
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Decreased circulating total I... OMIM:210900
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Elevated circulating alpha-fetopro... ORPHA:100085
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Hypercalcemia, Pituitary null cell adenoma, Pituitary corticotropic cel... ORPHA:652
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:255125
Lymphoid Interstitial Pneumonia
Hepatomegaly, Failure to thrive, Enlarged kidney, Weight loss ORPHA:79128
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis OMIM:300519
Osteosarcoma
Weight loss ORPHA:668
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Failure to thrive in infancy, Partial IgA deficiency, Lack of T cell function, Hepatosplenomegaly... ORPHA:35078
Thymic Carcinoma
Weight loss ORPHA:99868
Ataxia-Telangiectasia
Decreased circulating IgG level, Failure to thrive, Elevated circulating alpha-fetoprotein concen... OMIM:208900
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Bullous Pemphigoid
Weight loss ORPHA:703
Cap Polyposis
Weight loss ORPHA:160148
Takayasu Arteritis
Weight loss ORPHA:3287
8P23.1 Microdeletion Syndrome
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Obesity, Weight loss ORPHA:251071
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Abnormal circulating creatin... ORPHA:440437
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... OMIM:616878
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Portal hypertension, Cryptorchidism, Patent ductus arteriosus, Exocrine pancrea... OMIM:620005
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Lassa Fever
Increased circulating IgM level, Jaundice, Oliguria ORPHA:99824
Mogs-Cdg
Hepatomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating tot... ORPHA:79330
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
Brucellosis
Hepatomegaly, Liver abscess, Small for gestational age, Glomerulonephritis, Elevated circulating ... ORPHA:1304
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... OMIM:614748
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Chronic Beryllium Disease
Weight loss ORPHA:133
Bloom Syndrome
Recurrent urinary tract infections, Small for gestational age, Decreased circulating antibody lev... ORPHA:125
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Hyperphosphatemia, Hypercalcemia OMIM:617994
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hepatomegaly, Hypocalcemia, Hypophosphatemia ORPHA:667
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Netherton Syndrome
Failure to thrive, Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Familial Mediterranean Fever
Proteinuria, Orchitis, Splenomegaly, Peritonitis, Nephrocalcinosis, Nephrotic syndrome, Nephropat... ORPHA:342
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth hormone concentration, ... OMIM:131100
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:324964
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, Splenomegaly, Increased circulating IgE level, Failure to th... OMIM:602450
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Recurrent urinary tract infections, Liver abscess, Cholangitis, Decreased circul... ORPHA:183675
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Secondary hyperparathyroidism, Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Decreased circul... ORPHA:90363
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Stevens-Johnson Syndrome
Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Pancreatitis ORPHA:36426
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Charge Syndrome
Hypoparathyroidism, Renal agenesis, Decreased response to growth hormone stimulation test, Crypto... OMIM:214800
Tularemia
Increased circulating antibody level ORPHA:3392
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hepatosplenomegaly, Weight loss, N... ORPHA:1333
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly, Hepatitis, Weight loss,... OMIM:615846
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Increased circulating IgE level, Hypoalbuminemia, Hypernatremia OMIM:615508
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Chronic Graft Versus Host Disease
Hematuria, Urinary bladder inflammation, Weight loss, Phimosis ORPHA:99921
Toxic Epidermal Necrolysis
Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Pancreatitis ORPHA:537
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Proteinuria, Failure to thrive in infancy, Cryptorchidism, Abn... ORPHA:2162
Pemphigus Vulgaris
Weight loss ORPHA:704
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter... OMIM:122470
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... ORPHA:95455
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating antibody level, Failure t... OMIM:617591
Agel Amyloidosis
Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Weight loss ORPHA:33577
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss ORPHA:747
Erdheim-Chester Disease
Renal insufficiency, Dysuria, Retroperitoneal fibrosis, Weight loss, Hydronephrosis ORPHA:35687
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Hepatic fibrosis, Cholelit... ORPHA:2072
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss ORPHA:86884
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hydronephrosis, Hypocalcemia OMIM:620330
Gm1 Gangliosidosis
Splenomegaly, Patent ductus arteriosus, Hepatosplenomegaly, Weight loss, Failure to thrive ORPHA:354
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Selective Igm Deficiency
Recurrent urinary tract infections, Paraproteinemia, Decreased circulating total IgM, Decreased s... ORPHA:331235
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Splenomegaly, Enlarged lacrimal glands, Hypercalc... OMIM:181000
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Small for gestational age, Cryptorchidism, Spleno... OMIM:133540
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Weight loss ORPHA:92050
Poems Syndrome
Increased circulating antibody level, Increased circulating prolactin concentration, Weight loss ORPHA:2905
Sarcoidosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Portal hypertension, Enlarged lacrimal glands, ... ORPHA:797
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Hypoalbuminemia, Weight loss ORPHA:67
Okur-Chung Neurodevelopmental Syndrome
Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level, Decreased ci... OMIM:617062
Proteus Syndrome
Thymus hyperplasia, Cachexia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Lon... ORPHA:744
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Abnormality of ... ORPHA:2750
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Perry Syndrome
Weight loss OMIM:168605
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Small for gestational age, Thyroid hyperplasia, Weight loss ORPHA:424
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Testicular adrenal rest tumor, Elevat... ORPHA:90794
Oromandibular Dystonia
Weight loss ORPHA:93958
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... ORPHA:904
Lynch Syndrome
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... ORPHA:144
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Elevated circulating C-reactive protein concentration, Splenomeg... OMIM:619381
Hereditary Late-Onset Parkinson Disease
Spastic/hyperactive bladder, Weight loss ORPHA:411602
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Increased cir... ORPHA:562639
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Dubowitz Syndrome
Hypospadias, Cryptorchidism, Hypocholesterolemia, Decreased circulating IgG level, Decreased circ... OMIM:223370
Aspergillosis
Increased circulating IgE level, Abnormality of the kidney, Hepatitis ORPHA:1163
Fibrous Dysplasia Of Bone
Hypercalcemia, Elevated circulating growth hormone concentration, Testicular neoplasm, Ovarian cy... ORPHA:249
Loeffler Endocarditis
Weight loss ORPHA:75566
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Hepat... OMIM:311200
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... ORPHA:100086
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Congenital hypoparathyroidism, Decreased testicular size,... ORPHA:93325
Williams-Beuren Syndrome
Renal insufficiency, Recurrent urinary tract infections, Failure to thrive in infancy, Hypercalce... OMIM:194050
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Focal segmental glomeru... OMIM:619127
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Micropenis, Failure... OMIM:216400
Malignant Atrophic Papulosis
Peritonitis, Abnormality of the lower urinary tract, Weight loss ORPHA:679
Tropical Endomyocardial Fibrosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Cachexia, Splenomegaly, Hypoalbu... ORPHA:75565
Encephalitis Lethargica
Increased circulating antibody level, Urinary incontinence ORPHA:83600
Polycythemia Vera
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss ORPHA:729
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Weight loss ORPHA:100080
Scleromyxedema
Paraproteinemia, Elevated circulating creatine kinase concentration, Abnormality of the kidney ORPHA:167635
Bronchial Neuroendocrine Tumor
Hepatomegaly, Elevated circulating growth hormone concentration, Weight loss ORPHA:97287
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis, Obesity OMIM:619269
Juvenile Dermatomyositis
Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p... ORPHA:93672
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Increased circulating IgE level, Horseshoe kidney, Decreased circulating antibody l... ORPHA:508533
Short Syndrome
Weight loss ORPHA:3163
Stickler Syndrome
Slender build, Cachexia ORPHA:828
Ileal Neuroendocrine Tumor
Hydronephrosis, Extrahepatic cholestasis, Weight loss ORPHA:100078
Aymé-Gripp Syndrome
Cryptorchidism, Patent ductus arteriosus, Proteinuria, Breast hypoplasia ORPHA:1272
Familial Gestational Hyperthyroidism
Goiter, Thyroid hyperplasia, Weight loss ORPHA:99819
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Compleme... ORPHA:449427
Primary Sjögren Syndrome
Renal insufficiency, Chronic active hepatitis, Glomerulonephritis, Abnormality of the kidney, Bil... ORPHA:289390
Fanconi Anemia
Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Abnormal prepu... ORPHA:84
Kawasaki Disease
Proteinuria, Jaundice, Hepatitis, Sterile pyuria, Cholecystitis ORPHA:2331
Yellow Fever
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... ORPHA:99829
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Weight loss ORPHA:100082
Hermansky-Pudlak Syndrome
Renal insufficiency, Weight loss ORPHA:79430
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Hepatomegaly, Abnormal mast cell morphology, Weight loss ORPHA:98849
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... OMIM:618213
Ebola Hemorrhagic Fever
Acute pancreatitis, Increased circulating antibody level, Hepatitis ORPHA:319218
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mildly elevated creatine kinase, Weight loss OMIM:607459
Behçet Disease
Glomerulopathy, Renal insufficiency, Orchitis, Splenomegaly, Weight loss, Pancreatitis ORPHA:117
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... OMIM:606002
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Marburg Hemorrhagic Fever
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Orchiti... ORPHA:99826
Coccidioidomycosis
Renal insufficiency, Abnormality of the kidney, Abnormality of the spleen, Peritonitis, Abnormali... ORPHA:228123
Immunodeficiency 31C
Splenomegaly, Hepatomegaly, Decreased lymphocyte proliferation in response to anti-CD3, Weight loss OMIM:614162
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Norrie Disease
Cryptorchidism, Failure to thrive, Cachexia ORPHA:649
Familial Thrombocytosis
Splenomegaly, Weight loss ORPHA:71493
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:301074
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Cryptorchidism, Jaundice, Moderate albuminuria, Obesity OMIM:614231
Igg4-Related Ophthalmic Disease
Abnormality of the kidney, Increased circulating IgG4 level, Elevated circulating C-reactive prot... ORPHA:449563
Japanese Encephalitis
Hyponatremia, Increased circulating IgM level, Increased circulating antibody level ORPHA:79139
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level ORPHA:2314
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Increased circulatin... ORPHA:91347
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... ORPHA:821
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Weight loss ORPHA:100075
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Weight loss ORPHA:309031
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cryptorchidism, Patent ductus arteriosus, Proteinuria OMIM:616682
Oculopharyngodistal Myopathy 1
Elevated circulating creatine kinase concentration, Weight loss OMIM:164310
Rat-Bite Fever
Pancreatitis, Parotitis, Weight loss ORPHA:31205
Reactive Arthritis
Recurrent urinary tract infections, Weight loss ORPHA:29207
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Mucolipidosis Type Ii
Splenomegaly, Hepatosplenomegaly, Weight loss ORPHA:576
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgG level, Increased circulating IgM l... ORPHA:297
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblasto... ORPHA:99889
Pmm2-Cdg
Proteinuria, Elevated circulating growth hormone concentration, Reduced thyroxin-binding globulin... ORPHA:79318
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Weight loss ORPHA:85408
Kikuchi-Fujimoto Disease
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Weight loss, E... ORPHA:50918
Viss Syndrome
Patent ductus arteriosus, Increased circulating IgE level, Increased circulating IgG level, Failu... OMIM:619472
Malt Lymphoma
Weight loss ORPHA:52417
African Trypanosomiasis
Hepatomegaly, Renal insufficiency, Urinary incontinence, Splenomegaly, Jaundice, Hepatosplenomega... ORPHA:3385
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Leptospirosis
Hepatomegaly, Cellular urinary casts, Jaundice, Hepatitis, Hyperproteinemia, Acute kidney injury ORPHA:509
Trichinellosis
Increased circulating IgE level ORPHA:863
Nocardiosis
Peritonitis, Liver abscess, Weight loss ORPHA:31204
Cysticercosis
Increased circulating antibody level ORPHA:1560
Choreoacanthocytosis
Splenomegaly, Hepatomegaly, Elevated circulating creatine kinase concentration, Weight loss ORPHA:2388
Dermatomyositis
Weight loss ORPHA:221
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Weight loss ORPHA:740

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Scgb1a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Scgb1a1.

No publications found that use IMPC mice or data for Scgb1a1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Scgb1a1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Scgb1a1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Scgb1a1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter