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,  COX2,  prostaglandin G/H synthase,  PHS-2,  cyclooxygenase-2,  PGHS-2,  Tis10

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
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain
Fever, Recurrent fever OMIM:260570
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis OMIM:182690
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, Microscopic hematuria, ... OMIM:618176
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... OMIM:614131
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:615573
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... 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
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections, Fever ORPHA:183713
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Hypotension, Elevated circulating creatinine conce... OMIM:174000
Uridine-Cytidineuria
Elevated uridine in urine, Elevated urinary cytidine OMIM:618477
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes mellitus, Chil... ORPHA:71529
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis OMIM:162000
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:610725
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:619267
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Hyperuricemia, Renal tubular atrophy, Gout, Renal corticomedullar... OMIM:603860
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr... OMIM:614196
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, M... ORPHA:730
Nephrotic Syndrome, Type 22
Hypoproteinemia, Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclero... OMIM:619155
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst, Abnormality of the kidney OMIM:615987
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy... ORPHA:567548
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:603278
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Bardet-Biedl Syndrome 16
Renal insufficiency, Recurrent otitis media, External genital hypoplasia, Renal dysplasia, Renal ... OMIM:615993
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Epi... OMIM:173590
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Elevated circulating creatinine concentration, Synovitis, Hyperte... ORPHA:567544
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis OMIM:615888
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Hydronephrosis OMIM:278300
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Increased circulating IgM le... OMIM:618534
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Pulmonary insufficiency, Elevated circ... OMIM:602088
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Intracranial... OMIM:273800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Oligohydramnios, Pancreatic cysts, Hepatic cysts, P... OMIM:263200
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation, Raynaud phenomenon, Hypertension ORPHA:401945
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Hypoalbuminemia, Nephrotic ... OMIM:618349
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilateral renal ... ORPHA:93110
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... OMIM:618594
Shigellosis
Peritonitis, Acute kidney injury, Pneumonia, Abnormal blood ion concentration, Anorexia, Failure ... ORPHA:810
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Hypocalcemia, Elevated circulating creatinine concentration, Recurrent ur... ORPHA:36234
Histiocytosis, Familial Lipochrome
Polyarticular arthritis, Increased circulating antibody level, Histiocytosis, Recurrent infections OMIM:235900
Senior-Loken Syndrome
Nephronophthisis, Chronic kidney disease, Premature ovarian insufficiency, Stage 5 chronic kidney... ORPHA:3156
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Hyperuricemia, Vascular dilatation, Nephropathy, Gout, Renal ... OMIM:617056
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Pyelonephritis, Oligospermia, Renal dysplasia, Nephritis, Unilateral renal atrophy OMIM:314300
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent upper and lower respiratory tract infect... OMIM:608106
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
Immunodeficiency 25
Recurrent herpes, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increa... OMIM:610163
Familial Mediterranean Fever
Peritonitis, Skin rash, Pericarditis, Erysipelas, Diarrhea, Osteoarthritis, Lymphadenopathy, Gast... ORPHA:342
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria OMIM:134610
Senior-Loken Syndrome 9
Nephronophthisis, Retinal dystrophy, Hepatic fibrosis, Cholestasis, Tubulointerstitial nephritis,... OMIM:616629
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Dysphagia, Nephropathy, Glomerulopathy, Nephrotic syndrome, R... OMIM:254900
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Frasier Syndrome
Ambiguous genitalia, male, Focal segmental glomerulosclerosis, Hypergonadotropic hypogonadism, Go... ORPHA:347
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute kidney injury, Reticulocytosis, Elevated circulating creatinine concentration,... ORPHA:90038
Alport Syndrome
Hematuria, IgA deposition in the glomerulus, Vomiting, Clitoral hypertrophy, Renal insufficiency,... ORPHA:63
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Alstrom Syndrome
Cone/cone-rod dystrophy, Renal insufficiency, Otitis media, Hypergonadotropic hypogonadism, Tubul... OMIM:203800
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Frasier Syndrome
Focal segmental glomerulosclerosis, Primary amenorrhea, Gonadal dysgenesis, Stage 5 chronic kidne... OMIM:136680
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Peritoneal Cystic Mesothelioma
Peritonitis, Constipation, Dyspareunia, Menorrhagia, Metrorrhagia ORPHA:168816
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Elevate... OMIM:231680
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Lipoatrophy, Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Nephronophthisis 18
Nephronophthisis, Retinitis, Cholestasis, Renal tubular atrophy, Portal fibrosis, Tubulointerstit... OMIM:615862
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Renal amyloidosis, Abnormal cardiac ventricu... ORPHA:439232
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Hypertrophic cardiomyopathy, Stage 5 chronic kidney disease, Abnormal heart morp... OMIM:618250
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Abnormality of the hepatic vasculature, Glomerular sclerosis, Pneumonia, Retinal cotto... ORPHA:247691
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Increased serum pyruvate, Hyperalaninemia, Renal cortical cysts OMIM:617668
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... OMIM:187950
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst, External genital hypoplasia OMIM:605231
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Pancreatic cysts, Renal tubular atrophy, Renal corticomed... OMIM:613159
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Focal segmental glomerulosclerosis, Ventricular septal defect, Renal tubula... OMIM:616730
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Microscopic Polyangiitis
Peritonitis, Skin rash, Hematuria, Pericarditis, Diarrhea, Sinusitis, Renal insufficiency, Increa... ORPHA:727
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3
Usual interstitial pneumonia, Pulmonary fibrosis OMIM:616373
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Oligomeganephronia
Decreased numbers of nephrons, Optic disc coloboma, Unilateral renal agenesis, Abnormality of med... ORPHA:2260
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Decreased specific pneumococcal antibody level, Increased CD4:C... OMIM:617006
Nephrotic Syndrome, Type 14
Cryptorchidism, Focal segmental glomerulosclerosis, Hypertriglyceridemia, Hypoalbuminemia, Stage ... OMIM:617575
Pulmonary Hemosiderosis
Hemoptysis, Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Nephrotic Syndrome, Type 1
Hypoproteinemia, Glomerular sclerosis, Gastroesophageal reflux, Renal tubular atrophy, Hypoalbumi... OMIM:256300
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Elevated systolic blood pressure, Ab... ORPHA:275555
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts, Ventricular septal defect OMIM:219730
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, ... ORPHA:49041
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Schnitzler Syndrome
Skin rash, Arthralgia, Increased circulating IgM level, Leukocytosis, Bone pain, Increased bone m... ORPHA:37748
Glycogen Storage Disease Iv
Polyhydramnios, Cirrhosis, Hydrops fetalis, Tubulointerstitial fibrosis, Esophageal varix, Edema,... OMIM:232500
Complement Factor I Deficiency
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Recurrent urinary tract infections, ... OMIM:610984
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Xanthelasma, Thyroiditis, Hyperuricemia, Diarrhea, Anemia, Hyperlipidemia, ... ORPHA:79259
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Hypertens... OMIM:618913
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Memb... ORPHA:329918
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Hand-Foot-Genital Syndrome
Longitudinal vaginal septum, Renal insufficiency, Pyelonephritis, Chordee, Bifid scrotum, Uretero... OMIM:140000
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypogonadism, Hypertension OMIM:618681
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Renal Cysts And Diabetes Syndrome
Reduced sperm motility, Proteinuria, Biliary tract abnormality, Cerebral cortical atrophy, Bicorn... OMIM:137920
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Bardet-Biedl Syndrome 4
Cryptorchidism, External genital hypoplasia, Renal cyst, Hypogonadism, Abnormality of the kidney OMIM:615982
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Hematuria, Sinusitis, Myocarditis, Myositis, Renal insufficiency, Transient ischemic a... ORPHA:183
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Increased circulating IgG1 level, Hematuria, Acute kidney in... ORPHA:449395
Schimke Immuno-Osseous Dysplasia
Non-Hodgkin lymphoma, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8... ORPHA:1830
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Coenzyme Q10 Deficiency, Primary, 1
Hypergonadotropic hypogonadism, Glomerular sclerosis, Elevated circulating creatine kinase concen... OMIM:607426
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria, Bilateral tonic-clonic seizure OMIM:614115
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Focal segmental glomerulosclerosis, Ventricular septal defect, Renal tubula... OMIM:618348
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Diarrhea, Recurrent apht... OMIM:266600
Familial Mediterranean Fever
Peritonitis, Pericarditis, Renal amyloidosis, Abdominal pain, Leukocytosis, Orchitis, Elevated ci... OMIM:249100
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Decreased circulating parathyroid hormone level, Diarrhea, Decreased circulati... OMIM:240300
Retinitis Pigmentosa 59
Hepatomegaly, Renal insufficiency, Cryptorchidism, Micropenis OMIM:613861
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Recurrent otitis media, Recurrent sinusiti... OMIM:613493
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... OMIM:615400
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundic... OMIM:614866
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Tubulointerstitial fibrosis OMIM:263000
+173470 integrin, beta-3
Impaired platelet aggregation, Gastrointestinal hemorrhage, Intracranial hemorrhage, Epistaxis, D... OMIM:173470
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Iron deficiency anemia, In... OMIM:603909
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Microsporidiosis
Peritonitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pneumonia, Biliary... ORPHA:2552
Coccidioidomycosis
Peritonitis, Skin rash, Pericarditis, Abnormal sperm morphology, Pneumonia, Vasospasm, Abnormalit... ORPHA:228123
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Lower limb pain, Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Lead Poisoning
Skin rash, Reduced sperm motility, Decreased circulating osteocalcin level, Abnormal sperm morpho... ORPHA:330015
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Anterior Cutaneous Nerve Entrapment Syndrome
Abdominal pain, Leukocytosis, Recurrent urinary tract infections, Back pain, Allodynia, Recurrent... ORPHA:51890
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cardiomegaly, Cerebral calcification, Renal insufficiency, High, narrow palate, ... ORPHA:228308
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Arrhythmia, Pachygyria, Agenesis of corpus callosum, Cystic renal dysplasia, Ren... ORPHA:157
Joubert Syndrome 4
Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology OMIM:609583
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Pulmonic stenosis, Aortic valve stenos... OMIM:615382
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Lymphocytosis, Elevated hepatic transaminase, Interstitial pneumonitis, Thyro... ORPHA:139402
Prune Belly Syndrome
Cryptorchidism, Abnormality of the uterus, Urogenital sinus anomaly, Atrial septal defect, Hydrou... ORPHA:2970
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Hematuria, Azotemia, Thickened glomerular basement membrane, Glomerulonephritis... OMIM:104200
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Night sweats, Increased inflammatory response, L... OMIM:209950
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Elevated circulating creatinine concentration, Uveitis, Reversible renal failure, Glo... OMIM:607665
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Kerion Celsi
Fever, Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality... ORPHA:499
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Hypertension, Abnormal renal corticomedullary diff... OMIM:616733
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Recurrent fungal infections, Helicob... ORPHA:2688
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease, Patent ductus arteriosus, Hypoplastic left heart OMIM:617661
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:306
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morph... OMIM:602114
Drug-Induced Lupus Erythematosus
Hematuria, Pericarditis, Increased blood urea nitrogen, Pericardial effusion, Thrombocytopenia, M... ORPHA:231111
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Dehydration, Delayed puberty, Female exte... ORPHA:168558
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Autoim... OMIM:618495
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Dehydration, Delayed puberty, Female exte... ORPHA:289548
Tyrosinemia, Type I
Glomerular sclerosis, Renal insufficiency, Paralytic ileus, Cirrhosis, Enlarged kidney, Hypertyro... OMIM:276700
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Ventricular septal defect, Nephropathy, M... ORPHA:1909
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Cryptorchidism, Ambiguous genitalia, Horseshoe kidney, Renal agenesis, Bifid ureter, Decreased nu... OMIM:617641
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... OMIM:614376
African Iron Overload
Increased circulating ferritin concentration, Peritonitis, Micronodular cirrhosis, Viral hepatiti... ORPHA:139507
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Cryptorchidism, Nephrocalcinosis, Rod-cone dystrophy OMIM:615633
Bardet-Biedl Syndrome 17
Situs inversus totalis, External genital hypoplasia, Dextrocardia, Renal cyst, Stage 5 chronic ki... OMIM:615994
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Thrombocytopenia, Hepatomegaly, Dehydration, Tubulointerstitial nephritis,... OMIM:251000
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Patent ductus arteriosus, Neutropenia, Hypoalbuminemia, Leukope... OMIM:617303
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Rhyns Syndrome
Nephronophthisis, Hypopituitarism, Multicystic kidney dysplasia ORPHA:140976
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Urogenital sinus anomaly, Azoospermia, Am... ORPHA:261529
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Bilateral tonic-clonic seiz... OMIM:607208
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Pauci-Immune Glomerulonephritis
Pulmonary hemorrhage, Small vessel vasculitis, Acute kidney injury, Arteritis, Scleritis, Nephrot... ORPHA:93126
Trichohepatoenteric Syndrome 1
Jaundice, Diarrhea, Galactosuria, Hypoalbuminemia, Small for gestational age, Cirrhosis, Villous ... OMIM:222470
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
C Syndrome
Cryptorchidism, Renal cortical cysts, Ventricular septal defect, Patent ductus arteriosus, Hepato... OMIM:211750
Arterial Calcification, Generalized, Of Infancy, 2
Hypertension, Myocardial infarction, Congestive heart failure, Coronary artery calcification, Nep... OMIM:614473
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis OMIM:614009
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia, Neutropenia, Ileus, Vomi... ORPHA:37042
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Elevated circulating creatinine concentration, Recurrent urinary tract in... OMIM:613095
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints, Bilateral tonic-clonic seizure OMIM:608278
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating luteinizing hormone level, Agenesis of corpus callosum, Unilateral renal age... OMIM:618419
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4
Honeycomb lung, Pulmonary fibrosis OMIM:616371
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Weight loss, Cerebral hemorrhag... ORPHA:276621
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Gastrointestinal hemorrhage, Hepatomegaly, Diarrhea, Increased circulating IgA level... ORPHA:343
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Granulomatous Slack Skin
Abnormality of the lymph nodes, Nephrocalcinosis, Acute kidney injury ORPHA:33111
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Pachygyria, Atonic seizure, Bilate... OMIM:618873
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome OMIM:613779
Trisomy X
Renal hypoplasia/aplasia, Secondary amenorrhea, Multicystic kidney dysplasia ORPHA:3375
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrogenic diabetes insipidus, Elevated hepatic transaminase, Giant cell hepatitis, Death in inf... OMIM:208085
Hypophosphatasia, Infantile
Polyhydramnios, Elevated urine pyrophosphate, Stillbirth, Intracranial hemorrhage, Constipation, ... OMIM:241500
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:243910
Urofacial Syndrome 2
Constipation, Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflu... OMIM:615112
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Arrhythmia, Hematuria, Acute kidney injury, Abdominal pain, Re... ORPHA:54057
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Diarrhea, Abdominal pain OMIM:191390
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Tetralogy of Fallot ORPHA:3033
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal autonomic seizure, Bilateral tonic-clo... ORPHA:101046
Glycogen Storage Disease Ib
Xanthelasma, Focal segmental glomerulosclerosis, Enlarged kidney, Protuberant abdomen, Hepatocell... OMIM:232220
Isolated Focal Cortical Dysplasia
Focal-onset seizure, Seizure, Infantile spasms, Abnormal cortical gyration, Focal impaired awaren... ORPHA:65683
Glycogen Storage Disease Ia
Xanthelasma, Focal segmental glomerulosclerosis, Enlarged kidney, Hepatocellular carcinoma, Hyper... OMIM:232200
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Lipoatrophy, Insulin resistance ORPHA:79084
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Visually-induced seizure, Atonic s... OMIM:615369
Lymphedema-Distichiasis Syndrome
Arrhythmia, Recurrent urinary tract infections, Patent ductus arteriosus, Glomerulopathy, Predomi... ORPHA:33001
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Megalencephaly, Cerebral white matter hypoplasia, Congestive heart failure, Periv... ORPHA:500533
Continuous Spikes And Waves During Sleep
Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, F... ORPHA:725
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Hypoalbuminemia, Nephrotic syndrome, D... OMIM:615244
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Platelet... OMIM:187800
Ovarian Fibrothecoma
Peritonitis, Abnormality of the ovary, Pleural effusion, Abnormality of the endometrium, Metrorrh... ORPHA:314478
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Recurrent infections, Decreased c... OMIM:616452
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus, Tonic seizure OMIM:618924
Zygomycosis
Peritonitis, Pericarditis, Neutropenia, Ileitis, Melena, Diarrhea, Sinusitis, Myocarditis, Vomiti... ORPHA:73263
Mosaic Trisomy 1
Hepatic agenesis, Penile hypospadias, Renal cortical cysts, Ventricular septal defect, Renal cyst... ORPHA:1692
Cocaine Intoxication
Ventricular arrhythmia, Hematuria, Acute kidney injury, Cerebral hemorrhage, Pulmonary edema, Vom... ORPHA:90068
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Increased blood urea nitrogen, Orthostatic hypotension, Elevated circu... OMIM:223900
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Transketolase Deficiency
Seborrheic dermatitis, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect... ORPHA:488618
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Reduced isohemagglutinin le... OMIM:614699
Genitopalatocardiac Syndrome
Ventricular septal defect, Gonadal dysgenesis, male, Double outlet right ventricle, Renal cyst, H... OMIM:231060
Bartter Syndrome, Type 1, Antenatal
Hyposthenuria, Renal potassium wasting, Polyuria, Renal juxtaglomerular cell hypertrophy/hyperpla... OMIM:601678
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Macrothrombocytopenia and progressive sensorineural deafness
Prolonged bleeding time, Abnormality of the urinary system, Macrothrombocytopenia, Thrombocytopen... OMIM:600208
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation, Epistaxis OMIM:609821
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Chronic Recurrent Multifocal Osteomyelitis
Palmoplantar pustulosis, Fever, Osteomyelitis OMIM:259680
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Constipation, Abnormal circulating lipid concentration, Hypertension, Glomerulopathy,... ORPHA:225
Hyperlipoproteinemia, Type Id
Colitis OMIM:615947
Nephrosialidosis
Pericardial effusion, Nephropathy, Death in childhood, Nephrotic syndrome, Renal insufficiency OMIM:256150
Polymicrogyria, Bilateral Perisylvian, X-Linked
Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Feeding difficulties, Abdominal pain, Neutropenia, Anorexia, Thrombocytopeni... ORPHA:79312
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Abdominal pain, Decreased eosinophil count, Tooth abscess, Ly... ORPHA:2686
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Anti-thyroid peroxidase antibody positivit... ORPHA:277
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Pulmonic stenosis, Aortic valve stenosis, Dehydration, Vomiting, Nephro... OMIM:143880
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Bardet-Biedl Syndrome 19
Renal insufficiency, Hypogonadism, External genital hypoplasia OMIM:615996
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:266100
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Protuberant abdomen, Lymphopenia, Elevated circulating thyroi... OMIM:242900
Paget Disease Of Bone 6
Nephrocalcinosis, Osteoarthritis, Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephrogenic diabetes insipidus, Elevated hepatic transaminase, Giant cell hepatitis, Nephropathy,... OMIM:613404
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Skin rash, Neutropenia, Maculopapular exanthema, Ab... ORPHA:540
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Nail-Patella-Like Renal Disease
Hypertension, Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Listeriosis
Peritonitis, Pericarditis, Acute kidney injury, Pneumonia, Jaundice, Diarrhea, Myocarditis, Vomit... ORPHA:533
Lysinuric Protein Intolerance
Hypercholesterolemia, Proteinuria, Argininuria, Diarrhea, Leukopenia, Anemia, Vomiting, Hyperlysi... ORPHA:470
Familial Focal Epilepsy With Variable Foci
Focal-onset seizure, Deja vu aura, Bilateral tonic-clonic seizure, Simple febrile seizure, Polymi... ORPHA:98820
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Joubert Syndrome 15
Nephronophthisis, Micropenis, Ambiguous genitalia OMIM:614464
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Pneumonia, Abnormality of the lymp... ORPHA:911
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Primary Peritoneal Carcinoma
Peritonitis, Constipation ORPHA:168829
Harrod Syndrome
Cryptorchidism, External genital hypoplasia, Hypospadias, Varicose veins, Renal cortical microcysts OMIM:601095
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Recurrent fungal infections, Chronic oral candidiasis, Decreased ci... OMIM:300400
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Hypertension, Membrano... ORPHA:251004
Nephronophthisis 15
Nephronophthisis OMIM:614845
Blue Diaper Syndrome
Abnormal abdomen morphology, Nephrocalcinosis OMIM:211000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral renal agenesis, Uni... OMIM:618845
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Lipodystrophy, Insulin-... ORPHA:79085
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Iridocyclitis, Autoimmune thrombocytopenia, Anteri... ORPHA:227990
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology, Recurrent sinopulmonary infections, Decreased circu... OMIM:609529
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Albuminuria, Ventricular septal defect, Clitoral hypertrophy, Patent ductus arter... OMIM:214100
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus, Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesic... OMIM:617805
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Autoimmune Polyendocrinopathy Type 3
Xerostomia, Leukopenia, Autoimmune hypoparathyroidism, Non-caseating epithelioid cell granulomato... ORPHA:227982
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Aplasia of the vagina, Primary amenorrhea, Distal renal tubular acidosis, Septate vagi... OMIM:146255
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Elevated circulating alanine aminotransfe... OMIM:300555
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Ventricular septal defect, Recurrent urinary tract infections, Patent ductus ar... OMIM:613680
Leigh Syndrome With Nephrotic Syndrome
Focal T2 hyperintense basal ganglia lesion, Oligohydramnios, Renal tubular acidosis, Tubulointers... ORPHA:255249
Necrotizing Enterocolitis
Peritonitis, Abnormal heart morphology, Leukocytosis, Hypotension, Hyponatremia, Neutropenia, Thr... ORPHA:391673
Peutz-Jeghers Syndrome
Neoplasm, Breast carcinoma, Anemia, Vomiting, Multiple renal cysts, Gastrointestinal infarctions,... ORPHA:2869
Gitelman Syndrome
Nocturia, Primary hyperaldosteronism, Pericardial effusion, Abnormal T-wave, Delayed puberty, Dia... ORPHA:358
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:300310
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Micropenis, Bilateral tonic-clonic seizure OMIM:601217
Malignant Atrophic Papulosis
Peritonitis, Intestinal perforation, Ischemic stroke, Arteritis, Gastrointestinal hemorrhage, Abd... ORPHA:679
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Renal insufficiency, Abnormality of the uterus, Abnormal vagina morphology, Gonad... OMIM:194072
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Hypohidrosis, Cirrhosis, Atrial septal defect, Decreased spe... OMIM:614576
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Weight loss, Cerebral hemorrhag... ORPHA:29072
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Gastrointesti... ORPHA:131
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Non-Hodgkin lymphoma, Abnormal proportion of CD4-positive T cells, Abnormal serum ... ORPHA:3261
Denys-Drash Syndrome
Ambiguous genitalia, male, Focal segmental glomerulosclerosis, Nephropathy, Gonadal tissue inappr... OMIM:194080
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre... OMIM:615767
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Hypertri... OMIM:604367
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Gastrointestinal hemorrhage, Gastroesophageal re... ORPHA:2924
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Abnormal renal resorption, Hypocalcemic tetany, Sudden cardiac deat... ORPHA:73224
Beckwith-Wiedemann Syndrome
Cryptorchidism, Renal cortical cysts, Enlarged kidney, Gonadoblastoma, Hepatoblastoma, Hepatomega... OMIM:130650
Fanconi-Bickel Syndrome
Elevated circulating aspartate aminotransferase concentration, Hyperphosphaturia, Generalized ami... ORPHA:2088
Alagille Syndrome 2
Atrial septal defect, Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Hyperten... OMIM:610205
Scalp-Ear-Nipple Syndrome
Renal agenesis, Pyelonephritis, Renal hypoplasia, Breast aplasia, Renal insufficiency, Abnormalit... OMIM:181270
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Recurrent infections, Splenomegaly OMIM:606445
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Fanconi Anemia, Complementation Group O
Cryptorchidism, Abnormal heart morphology, External genital hypoplasia, Hydronephrosis, Renal cys... OMIM:613390
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Renal potassium wasting, Polyuria, Renal juxtaglomerular cell hypertrophy/hyperpla... OMIM:241200
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Hepatic steatosis, Elevated hemoglobin A1c, Eleva... OMIM:617253
Fusariosis
Lung abscess, Peritonitis, Osteomyelitis, Bronchiectasis, Lymphopenia, Panniculitis, Granuloma, N... ORPHA:228119
Glomerulopathy With Fibronectin Deposits 2
Generalized distal tubular acidosis, Glomerulopathy, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Alport Syndrome 2, Autosomal Recessive
Hematuria, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Stag... OMIM:203780
Mu-Heavy Chain Disease
Increased circulating antibody level, Nephropathy, Weight loss, Hepatomegaly, Abnormal B cell cou... ORPHA:100024
Apparent Mineralocorticoid Excess
Renal insufficiency, Hypertension, Abnormality of circulating cortisol level, Decreased circulati... ORPHA:320
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Polyhydramnios, Diabetes insipidus, Nephrocalcinosis, Megalencephaly OMIM:611087
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Myoclonic status epilepticus, Bilateral tonic-clonic seizure with focal onset,... OMIM:611726
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Hematuria, Internal hemorrhage, Abdominal... ORPHA:69077
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Cardiomyopathy, Cerebral atroph... ORPHA:445038
Thomas Syndrome
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia ORPHA:3316
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Focal se... ORPHA:139426
Developmental And Epileptic Encephalopathy 30
Seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:616341
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... OMIM:618982
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Pulmonary Fibrosis, Idiopathic
Alveolar cell carcinoma, Usual interstitial pneumonia, Elevated bronchoalveolar lavage fluid neut... OMIM:178500
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity OMIM:617119
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Cerebral atrophy, Patent ductus arteriosus, Hypercalciuria, Renal cys... OMIM:615398
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Abdominal pain, Leukocytosis, Hypotens... ORPHA:91547
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Aminoaciduria, Anorexia, Adr... OMIM:619386
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reti... OMIM:274150
Trigeminal Neuralgia
Ocular pain, Mandibular pain, Trigeminal neuralgia, Allodynia ORPHA:221091
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Renal cortical hyperechogenicity, Megacystis, Pyelonephritis, Elevated pulmonary art... OMIM:619351
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Macroglossia, Nephropathy, Cholestasis, Hepatomegaly, Renal dysplasia, Hepatic ... OMIM:266920
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Distal renal tubular acidosis, Isothenuria, Decreased mean cor... OMIM:611590
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Optic neuritis, Chronic hepatit... ORPHA:289390
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis OMIM:616963
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Acute kidney injury, Increased blood urea nitrogen, Anuria, Re... OMIM:235400
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Pancreatic cysts, Stage 5 chronic kidney di... OMIM:614377
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pericarditis, Leukocytosis, Constipation, Orchitis, Uveitis, Conjunctivit... ORPHA:32960
Pseudoxanthoma Elasticum
Skin rash, Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopathy, Hypothyroidi... ORPHA:758
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, M... ORPHA:2382
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Babesiosis
Hemolytic anemia, Nausea and vomiting, Anorexia, Thrombocytopenia, Hepatomegaly, Myocardial infar... ORPHA:108
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst, Truncus arteriosus, Ventricular septal defect OMIM:228940
Glycogen Storage Disease Ic
Xanthelasma, Spider hemangioma, Hematuria, Focal segmental glomerulosclerosis, Chronic pancreatit... OMIM:232240
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Failure to thrive, Nausea and vomiting, Renal insufficiency, Hyperammonemia ORPHA:28
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Abnormal natural killer cell count, Reduced antigen-specific T cell proliferation, Eos... ORPHA:331206
Bleeding Disorder, Platelet-Type, 12