Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
prostaglandin-endoperoxide synthase 2
Synonyms:
Cox-2,  cyclooxygenase-2,  Pghs2,  Tis10,  PHS-2,  cyclooxygenase 2,  prostaglandin G/H synthase,  COX2,  PGHS-2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Ptgs2 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 Ptgs2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... OMIM:619263
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Immunodeficiency 108 With Autoinflammation
Recurrent fever, Fever OMIM:260570
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chr... OMIM:615573
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... OMIM:600995
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Nephrotic Syndrome, Type 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... OMIM:256370
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Ragweed Sensitivity
Fever OMIM:179450
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever, Recurrent bacterial skin infections ORPHA:183713
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Medullary cystic kidney disease 2
Renal tubular atrophy, Gout, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small m... OMIM:603860
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... OMIM:614196
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... OMIM:310468
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Hypoproteinemia, Thickened glomerular basement m... OMIM:619155
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chronic... OMIM:603278
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Decreased glomerular filtration rate, Renal tubular atrophy, Nephropathy, Gout, Renal ... OMIM:162000
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency, Hypogonadism OMIM:615987
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposit... ORPHA:85450
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Bardet-Biedl Syndrome 16
Recurrent otitis media, External genital hypoplasia, Renal agenesis, Abnormality of the kidney, R... OMIM:615993
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... ORPHA:656
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:173590
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... ORPHA:567544
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Bronchiectasis, Increased circulating ... OMIM:618534
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Xanthinuria, Type I
Xanthinuria, Hyperxanthinemia, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... OMIM:618349
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... ORPHA:93101
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Hypertension, Thrombocytopenia, Raynaud phenomenon ORPHA:401945
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... ORPHA:93110
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... OMIM:618594
Nephronophthisis 7
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611498
Familial Mediterranean Fever
Pancreatitis, Constipation, Diarrhea, Myocardial infarction, Pedal edema, Proteinuria, Pericardit... ORPHA:342
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease OMIM:606995
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Shigellosis
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Urethritis, Abscess, Vomiting, Myocard... ORPHA:810
Bacterial Toxic-Shock Syndrome
Diarrhea, Abscess, Vomiting, Myocarditis, Elevated circulating creatinine concentration, Pneumoni... ORPHA:36234
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Recurrent infections, Polyarticular arthritis OMIM:235900
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Oligospermia, Renal dysplasia, Pyelonephritis, Cryptorchidism OMIM:314300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis, Renal cyst, Vascul... OMIM:617056
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Senior-Loken Syndrome 9
Nephronophthisis, Rod-cone dystrophy, Macular degeneration, Cholestasis, Retinal dystrophy, Tubul... OMIM:616629
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, A... OMIM:619220
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Erysipelas, Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Dysphagia, Proteinuria, Rena... OMIM:254900
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Pancreatitis, Hemoglobinuria, Diarrhea, Vomiting, Schistocytosis, Myocardial infarction, Colonic ... ORPHA:90038
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Immunodeficiency 25
Recurrent candida infections, Increased circulating IgA level, Smooth muscle antibody positivity,... OMIM:610163
Nephronophthisis-Like Nephropathy 1
Chronic pancreatitis, Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular ba... OMIM:613159
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Rena... OMIM:613550
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Frasier Syndrome
Nephrotic syndrome, Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, S... ORPHA:347
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Otitis media, Hypergonadotropic hypogon... OMIM:203800
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... OMIM:601859
Alport Syndrome
Glomerular C3 deposition, Hematuria, Vomiting, Thickened glomerular basement membrane, Clitoral h... ORPHA:63
Aapoaiv Amyloidosis
Chronic kidney disease, Hyperlipidemia, Cardiac amyloidosis, Abnormal renal medulla morphology, L... ORPHA:439232
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Pulmonary venous occlusion, Unilater... ORPHA:2260
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Hypertrophic cardiomyopathy, Stage 5 chronic kidney disease, Abnormal heart morp... OMIM:618250
Frasier Syndrome
Ovarian gonadoblastoma, Nephrotic syndrome, Male pseudohermaphroditism, Primary amenorrhea, Gonad... OMIM:136680
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619964
Peritoneal Cystic Mesothelioma
Constipation, Dyspareunia, Metrorrhagia, Peritonitis, Menorrhagia ORPHA:168816
Senior-Loken Syndrome
Premature ovarian insufficiency, Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney... ORPHA:3156
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... OMIM:612567
Thrombocythemia 1
Thrombocytosis, Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet agg... OMIM:187950
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Hepatomegaly, Glycosuria, Vomiting, Elevated circulating glutaric acid conc... OMIM:231680
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basement membrane, Tub... OMIM:615862
Hirschsprung Disease, Susceptibility To, 1
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3
Pulmonary fibrosis, Usual interstitial pneumonia OMIM:616373
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Hyperalaninemia, Increased serum pyruvate, Renal cortical cysts OMIM:617668
Microscopic Polyangiitis
Pancreatitis, Diarrhea, Hematuria, Uveitis, Increased inflammatory response, Gastrointestinal hem... ORPHA:727
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces... OMIM:617006
Glycogen Storage Disease Iv
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Tubulointerstitial fibrosis, Pol... OMIM:232500
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Diarrhea, Gout, Hepatocellular adenoma... ORPHA:79259
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Complement Factor I Deficiency
Recurrent skin infections, Recurrent urinary tract infections, Recurrent sinusitis, Renal insuffi... OMIM:610984
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Weight loss, Pericarditis, Sta... OMIM:619487
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... OMIM:617575
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Renal corticomedullary cysts, Renal insufficiency OMIM:219730
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
Idiopathic Pulmonary Fibrosis
Gastroesophageal reflux, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial mor... ORPHA:2032
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Abnormal retinal vascular morphology, Skin rash, Raynaud ... ORPHA:247691
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Schnitzler Syndrome
Bone pain, Myalgia, Increased bone mineral density, Leukocytosis, Splenomegaly, Skin rash, Fatigu... ORPHA:37748
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Gastroesophageal reflux, Renal tubular atrophy, Di... OMIM:256300
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Impotence, Constipation, Elevated circulating C-reactive protein concentration,... ORPHA:49041
Preeclampsia
Chronic kidney disease, Abnormality of the hepatic vasculature, Abdominal pain, Small for gestati... ORPHA:275555
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia OMIM:609886
Senior-Boichis Syndrome
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hyperechog... ORPHA:84081
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Lead Poisoning
Miscarriage, Constipation, Vomiting, Abnormal T cell morphology, Abnormal sperm morphology, Decre... ORPHA:330015
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis OMIM:617731
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Elevated urinary prostaglandin E2 level, Acne OMIM:167100
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Hand-Foot-Genital Syndrome
Chordee, Micropenis, Bifid scrotum, Hypospadias, Uterus didelphys, Ureteropelvic junction obstruc... OMIM:140000
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Lessel-Kubisch Syndrome
Hypertension, Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... OMIM:618913
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... OMIM:619970
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Abnormality of the kidney, Myocardial infarcti... OMIM:155100
Familial Mediterranean Fever
Crohn's disease, Leukocytosis, Nephrotic syndrome, Episodic abdominal pain, Orchitis, Abdominal p... OMIM:249100
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Renal cyst, Hypogonadism, Cryptorchidism OMIM:615982
Joubert Syndrome 4
Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ... OMIM:609583
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Lymphoproliferative disorder, Non-Hodgkin lymphoma, Abnormal proportion of naive CD... ORPHA:1830
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Gout, Biliary tract abnormality, Pancreatic hypopl... OMIM:137920
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... ORPHA:449395
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Myocarditis, Myocardial infarction, Increased inflammatory response, Proteinuria, Tran... ORPHA:183
Cortical Malformations, Occipital
Pachygyria, Bilateral tonic-clonic seizure, Polymicrogyria OMIM:614115
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in... OMIM:618348
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... OMIM:615382
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage... OMIM:609057
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Retinitis Pigmentosa 59
Cryptorchidism, Hepatomegaly, Renal insufficiency, Micropenis OMIM:613861
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Recu... OMIM:616005
Mpdu1-Cdg
Renal cortical cysts, Decreased response to growth hormone stimulation test, Feeding difficulties... ORPHA:79323
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Hypergonadotropic hypogonadism, Episodic vomiting, E... OMIM:607426
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensory seizure... OMIM:615400
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Non-acidotic pro... ORPHA:1652
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessive insulin res... ORPHA:324575
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Intracranial hemo... OMIM:173470
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613500
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Hepatomegaly, Cleft palate, Splenomegaly, Poor suck, Hepatosplenomegaly, Intra... OMIM:614866
Coccidioidomycosis
Pancreatitis, Abnormality of the male genitalia, Pneumonia, Pericarditis, Abnormal sperm morpholo... ORPHA:228123
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Tubulointerstitial fibrosis OMIM:263000
Epilepsy, Familial Temporal Lobe, 8
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... OMIM:616461
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Reversible renal failure, Anterior uveitis, Elevated circulating creatinine concentra... OMIM:607665
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Increased circulatin... OMIM:603909
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Iridocyclitis, Chronic active hepatitis, Diarrhea, Type I diabetes mellitus, Hypo... OMIM:240300
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia, Lower limb pain ORPHA:209004
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... OMIM:617730
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Anterior Cutaneous Nerve Entrapment Syndrome
Back pain, Allodynia, Abdominal pain, Leukocytosis, Recurrent infection of the gastrointestinal t... ORPHA:51890
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis OMIM:613960
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Supernumerary nipple, Chronic tubulointerstitial nephritis, Attenuation of retinal ... OMIM:614376
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
Microsporidiosis
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormal... ORPHA:2552
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... OMIM:602522
Immunodeficiency 27A
Histiocytosis, Night sweats, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rheumatoid factor po... OMIM:209950
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Anemia, Ele... ORPHA:231111
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... OMIM:601894
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Chronic kidney disease, Cholestatic liver disease, Nephro... OMIM:602114
Coach Syndrome 3
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... OMIM:619113
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... ORPHA:1909
Drug Reaction With Eosinophilia And Systemic Symptoms
Fever, Nephrotic syndrome, Pustule, Skin rash, Acute hepatic failure, Lymphocytosis, Interstitial... ORPHA:139402
Galloway-Mowat Syndrome 6
High palate, Decreased body weight, Nephrotic syndrome, Decreased response to growth hormone stim... OMIM:618347
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Pr... ORPHA:54370
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... OMIM:617641
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... OMIM:619468
Prune Belly Syndrome
Urogenital sinus anomaly, Constipation, Cryptorchidism, Atrial septal defect, Abnormality of the ... ORPHA:2970
Liver Disease, Severe Congenital
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Increased circulating fer... OMIM:619991
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulm... OMIM:308240
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hepatic failure, Cholestasis, Abnormality of the pancreas, Hypermethioninemia, Abno... OMIM:222470
Kerion Celsi
Fever, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Recurrent ski... ORPHA:499
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Increased blood urea nitrogen, Hypergonadotropic hypogona... OMIM:154230
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Enlarged kidney, Thrombocytopenia, Proteinuria, Bone marrow hypocellularity, Nephro... OMIM:617303
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Enterocolitis, Abdominal pain OMIM:260005
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... OMIM:308230
Isolated Polycystic Liver Disease
Hepatomegaly, Gastroesophageal reflux, Polycystic liver disease, Multiple renal cysts, Abnormalit... ORPHA:2924
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Renal dysplasia, Abnormal renal corticomedullary differentiation, E... OMIM:616733
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Viral hepatitis, Hepa... ORPHA:139507
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Cryptorchidism, Nephrocalcinosis, Rod-cone dystrophy OMIM:615633
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Zygomycosis
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Diarrhea, Vomiting, Acute in... ORPHA:73263
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis OMIM:614009
Arima Syndrome
Occipital meningocele, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Poly... OMIM:243910
Tyrosinemia, Type I
Melena, Hepatomegaly, Hepatic failure, Enlarged kidney, Hypermethioninemia, Gastrointestinal hemo... OMIM:276700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Type I diabetes mellitus, Pneumonia, Abno... ORPHA:37042
Dravet Syndrome
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... OMIM:607208
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtrati... ORPHA:93126
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Coronary artery calcification, Nephrocalcinosis, Hypertension, Congestive ... OMIM:614473
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Constipation, Decreased circulating androgen concentration, Abnormal external genitalia, Decrease... ORPHA:95699
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Azoospermia, Testicular microlithiasis, Micropenis, O... OMIM:228300
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... ORPHA:276580
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... OMIM:618719
C Syndrome
Hepatomegaly, Renal cortical cysts, Ventricular septal defect, Clitoral hypertrophy, Patent ductu... OMIM:211750
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Increased circulating IgA level, Peritonitis, Diarrhea, Vasculitis, Arthritis, Inte... ORPHA:343
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4
Honeycomb lung, Pulmonary fibrosis OMIM:616371
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Hepatomegaly OMIM:614870
Senior-Loken Syndrome 4
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Recurrent pneumonia, Renal insuffic... OMIM:613779
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Myalgia, Reduced isohema... OMIM:614699
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Methylmalonic aciduria, Leukopenia, Dehydratio... OMIM:251000
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Death in childhood, Elevated circulating aspartate aminotransferase concentration, ... OMIM:614582
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Chronic constipation, Glomerula... OMIM:619428
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy ORPHA:3033
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Nephritis, Retinal neovascularization, Ed... OMIM:180080
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperlipidemia, Hepatomegaly, High, narrow palate, Hepatic failure, Hepatic calcification, Myoglo... ORPHA:228308
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrogenic diabetes insipidus, Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Redu... OMIM:208085
Secondary Intestinal Lymphangiectasia
Vomiting, Fever, Malabsorption, Decreased circulating IgA level, Intussusception, Cirrhosis, Righ... ORPHA:90363
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:617241
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Hepatomegaly, Hepatic failure, Hepatic calcification, Myoglobinuria, Cystic renal... ORPHA:157
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Metrorrhagia, Peritonitis, A... ORPHA:314478
Cystic Hamartoma Of Lung And Kidney
Pulmonary fibrosis, Recurrent respiratory infections ORPHA:2111
Lissencephaly 10
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilate... OMIM:618873
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Hypophosphatasia, Infantile
Fever, Stillbirth, Constipation, Intracranial hemorrhage, Vomiting, Hypercalciuria, Phosphoethano... OMIM:241500
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:615127
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Proteinuria, Adrenal pheochromocytoma, Weight loss, Elevated urinary epinephrine, Cere... ORPHA:276621
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets, Prolonged bleeding time OMIM:608404
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... ORPHA:65683
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Secondary amenorrhea ORPHA:3375
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Immunodeficiency 102
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Sepsis, B lym... OMIM:301082
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormality of the lymph nodes ORPHA:33111
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... OMIM:604367
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... OMIM:615244
Cocaine Intoxication
Supraventricular arrhythmia, Subarachnoid hemorrhage, Hematuria, Vomiting, Myocardial infarction,... ORPHA:90068
Oocyte Maturation Defect 10
Female infertility, Miscarriage OMIM:619176
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Diarrhea, Hematuria, Vomiting, Proteinuria, Pneumon... ORPHA:340
Acrorenal Syndrome, Autosomal Recessive
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency OMIM:201310
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Thr... OMIM:187800
Nephrosialidosis
Nephrotic syndrome, Death in childhood, Nephropathy, Renal insufficiency, Pericardial effusion OMIM:256150
Thrombotic Thrombocytopenic Purpura
Abdominal pain, Diarrhea, Decreased serum creatinine, Hematuria, Arrhythmia, Myocardial infarctio... ORPHA:54057
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... ORPHA:276575
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Constipation, Gastroesophageal reflux, Increased blood urea nitrogen, Abnormal renal physiology, ... OMIM:223900
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ... OMIM:618987
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal renal phys... ORPHA:540
Bartter Syndrome, Type 1, Antenatal
Hyperprostaglandinuria, Fever, Increased urinary potassium, Renal juxtaglomerular cell hypertroph... OMIM:601678
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, Ch... OMIM:300400
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Febrile seizure... OMIM:615369
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Hyperechogenic kidneys, Optic atrophy, Tubulointerstitial nephrit... OMIM:617595
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Nephrocalcinosis, Congestive heart failure, Diabetes insipidus ORPHA:500533
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Cleft palate, Recurrent skin infections, Recurrent urinary t... ORPHA:33001
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation, Epistaxis OMIM:609821
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Recurrent viral infec... OMIM:618048
Cyclic Neutropenia
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Abdominal pain, Otitis media, Recurrent ski... ORPHA:2686
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ... ORPHA:277
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Autoimmunity,... OMIM:609529
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... ORPHA:251004
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Maternally-Inherited Diabetes And Deafness
Constipation, Abnormal circulating lipid concentration, Arrhythmia, Renal insufficiency, Proteinu... ORPHA:225
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure, Contractures of the large joints, Osteoporosis OMIM:608278
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Clonic seizure, Generalized myoclonic seizure OMIM:266100
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased circulating androgen concentration, Decreased fertility in males, Hypergonadotropic hyp... ORPHA:90796
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Hypogonadism OMIM:615996
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Coarctation of aorta, Pulmonary artery atresia, Penile hypospad... ORPHA:1692
Chronic Recurrent Multifocal Osteomyelitis
Fever, Osteomyelitis, Palmoplantar pustulosis OMIM:259680
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephrogenic diabetes insipidus, Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Hepa... OMIM:613404
Immunodeficiency 95
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... OMIM:619773
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonus, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure OMIM:162350
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Pachygyria, Bilateral tonic-clonic seizure OMIM:600176
Autoimmune Lymphoproliferative Syndrome, Type Iii
Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-/low B cells, ... OMIM:615559
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Pancreatitis, Hepatomegaly, Abdominal pain, Feeding difficulties, Anorexia, Sp... ORPHA:79312
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:245570
Developmental And Epileptic Encephalopathy 98
Perisylvian polymicrogyria, Clonic seizure, Bilateral tonic-clonic seizure with focal onset, Refr... OMIM:619605
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Primary Peritoneal Carcinoma
Peritonitis, Constipation ORPHA:168829
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria ORPHA:2613
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... OMIM:616307
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Polymicrogyria OMIM:300388
Zika Virus Disease
Myalgia, Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Iris coloboma, Wrist swelling, ... ORPHA:448237
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphoproliferative disorder, Lymphadenitis, P... ORPHA:911
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the uterus, Horsesh... OMIM:617805
Budd-Chiari Syndrome
Fever, Malabsorption, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, ... ORPHA:131
Paget Disease Of Bone 6
Coronary artery atherosclerosis, Left ventricular hypertrophy, Osteoarthritis, Nephrocalcinosis OMIM:616833
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increased intraabdom... ORPHA:79085
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti... OMIM:607271
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Joubert Syndrome 15
Ambiguous genitalia, Nephronophthisis, Micropenis OMIM:614464
Harrod Syndrome
External genital hypoplasia, Hypospadias, Renal cortical microcysts, Cryptorchidism, Varicose veins OMIM:601095
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Increased total bilirubin, Renal cyst OMIM:174050
Listeriosis
Miscarriage, Stroke, Diarrhea, Vomiting, Myocarditis, Pneumonia, Pericarditis, Jaundice, Septic a... ORPHA:533
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Multiple myeloma, Elevated circulating C-reactive p... ORPHA:158057
Hypercalcemia, Infantile, 1
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Dehydration, Vomiting, Hyper... OMIM:143880
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Hepatomegaly, Atrial se... OMIM:614576
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis OMIM:249660
Lysinuric Protein Intolerance
Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Steatorrhea, Hepatic failure, H... ORPHA:470
Schimke Immunoosseous Dysplasia
Proteinuria, Pancytopenia, Transient ischemic attack, Bilateral cryptorchidism, Abnormal T cell m... OMIM:242900
Transketolase Deficiency
Hepatomegaly, Atrial septal defect, Abnormal coronary artery course, Increased level of ribose in... ORPHA:488618
Genitopalatocardiac Syndrome
Double outlet right ventricle, Gonadal dysgenesis, male, Hypospadias, Ventricular septal defect, ... OMIM:231060
Autosomal Dominant Epilepsy With Auditory Features
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Bilater... ORPHA:101046
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Hepatomegaly, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multip... OMIM:613095
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Hypoplastic left heart, Unilateral renal agenesis, Renal hypoplasia, Pate... OMIM:617661
Familial Focal Epilepsy With Variable Foci
Deja vu aura, Focal impaired awareness seizure, Focal aware seizure, Nocturnal seizures, Infantil... ORPHA:98820
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... OMIM:618845
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Necrotizing Enterocolitis
Bloody diarrhea, Abdominal distention, Leukocytosis, Small for gestational age, Peritonitis, Diar... ORPHA:391673
Episodic Ataxia, Type 9
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure OMIM:618924
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Elevated circulating C-reactive protein conc... OMIM:619644
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Nephronophthisis 15
Nephronophthisis OMIM:614845
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... OMIM:300310
Malignant Atrophic Papulosis
Telangiectasia of the skin, Abdominal pain, Abnormal pericardium morphology, Peritonitis, Abnorma... ORPHA:679
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proxi... OMIM:146255
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Stomach cancer, Abnormality of the ureter, Neoplasm of the small intestin... ORPHA:2869
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Neph... OMIM:130650
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Non-Hodgkin lymphoma, Basal... ORPHA:3261
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Autoimmune Polyendocrinopathy Type 4
Thymoma, Iridocyclitis, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Leukopenia, Xerosto... ORPHA:227990
Blue Diaper Syndrome
Abnormal abdomen morphology, Nephrocalcinosis OMIM:211000
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... OMIM:254770
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Micropenis, Seizure OMIM:601217
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Decreas... OMIM:619924
Persistent Polyclonal B-Cell Lymphocytosis
Recurrent infections, Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Endometriosis, Ventricular septal ... OMIM:613680
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Proteinuria, Adrenal pheochromocytoma, Weight loss, Elevated urinary epinephrine, Arac... ORPHA:29072
Autoimmune Polyendocrinopathy Type 3
Thymoma, Iridocyclitis, Graves disease, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Aut... ORPHA:227982
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Fatigue, Inflammation of the large intestine, D... OMIM:615767
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hypospadia... OMIM:214100
Urachal Cyst
Dysuria, Neoplasm, Elevated circulating C-reactive protein concentration, Abdominal pain, Leukocy... ORPHA:488
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hepatic ... ORPHA:73224
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Abdominal pain, Leukocytosis... ORPHA:91547
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Seckel Syndrome 10
Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Retinal detachment, Glyc... OMIM:617253
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Recurrent fever, Constipation, Orchitis, Skin rash, Splenomegaly, Leukocytosis, Peritonitis, Diar... ORPHA:32960
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Gout, Elevated circulating creatini... ORPHA:79233
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Stroke, Hypertensive retinopathy, Left ventricular hyper... ORPHA:320
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure with foca... OMIM:614558
Bartter Syndrome, Type 2, Antenatal
Hyperprostaglandinuria, Fever, Increased urinary potassium, Renal juxtaglomerular cell hypertroph... OMIM:241200
Xanthinuria, Type Ii
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... OMIM:603592
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephroblastoma, Nephropathy, Abnormality o... OMIM:194072
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Diarrhea, Thrombocytopeni... OMIM:619802
Scalp-Ear-Nipple Syndrome
Abnormality of the endocrine system, Renal agenesis, Breast aplasia, Renal hypoplasia, Renal insu... OMIM:181270
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Dent Disease 2
Chronic kidney disease, Aminoaciduria, Elevated circulating aspartate aminotransferase concentrat... OMIM:300555
Fusariosis
Keratitis, Sinusitis, Osteomyelitis, Lymphopenia, Abnormality of the kidney, Maculopapular exanth... ORPHA:228119
Gitelman Syndrome
Graves disease, Constipation, Diarrhea, Gout, Type I diabetes mellitus, Proteinuria, Primary hype... ORPHA:358
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Denys-Drash Syndrome
Ovarian gonadoblastoma, Nephrotic syndrome, Ambiguous genitalia, female, Ambiguous genitalia, mal... OMIM:194080
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Renal tubular acidosis, Atrial s... OMIM:610205
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Oligohydramnios, Episodic vomiting, Tubulointerstitia... ORPHA:255249
Pseudoxanthoma Elasticum
Angina pectoris, Telangiectasia of the skin, High palate, Skin rash, Restrictive cardiomyopathy, ... ORPHA:758
Blue Diaper Syndrome
Decreased circulating T4 concentration, Diarrhea, Elevated hepatic transaminase, Elevated circula... ORPHA:94086
Congenital Primary Megaureter
Nephrolithiasis, Fever, Congenital megaureter, Abnormal penis morphology, Abnormality of the uppe... ORPHA:617
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... OMIM:179800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Thoracic aortic aneurysm, Peritonitis, Oligohydramnios, Elevated pulmonary artery pressure, Ileal... OMIM:619351
Fanconi-Bickel Syndrome
Renal tubular acidosis, Hepatomegaly, Hepatic failure, Increased hepatic glycogen content, Hepato... ORPHA:2088
Myoectodermal Gonadal Dysgenesis Syndrome
Anal atresia, Hypoplasia of the uterus, Rod-cone dystrophy, Unilateral renal agenesis, Elevated c... OMIM:618419
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Stroke, Raynaud phenomenon, Nephropathy, Hematuria, Retinal hemorrha... OMIM:611773
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Hypertension, Diarrhea, Schistocytosis, Elevated c... OMIM:235400
Thrombotic Thrombocytopenic Purpura, Hereditary
Transient ischemic attack, Increased blood urea nitrogen, Jaundice, Abnormal renal physiology, Sc... OMIM:274150
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Anemia... ORPHA:100024
Trigeminal Neuralgia
Ocular pain, Mandibular pain, Trigeminal neuralgia, Allodynia ORPHA:221091
Interstitial Lung Disease 2
Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary f... OMIM:178500
Alport Syndrome 2, Autosomal Recessive