Gene Summary

Name:
serine (or cysteine) peptidase inhibitor, clade E, member 1
Synonyms:
PAI1,  PAI-1,  Planh1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal sternum morphology Serpine1em1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Serpine1em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

88 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

46 Images

Human diseases caused by Serpine1 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.

The table below shows human diseases associated to Serpine1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Joint hemorrhage, Myocardial fibrosis, Hemoperitoneum, Persistent bleeding after trauma, Subcutan... ORPHA:465
Plasminogen Activator Inhibitor-1 Deficiency
Abnormal bleeding, Menorrhagia OMIM:613329

The table below shows human diseases predicted to be associated to Serpine1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... OMIM:614372
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Elevated circulating alanine aminotransferase concentration, Hepatic b... OMIM:613759
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatomega... OMIM:619644
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Serositis, Abnormal glomerula... ORPHA:567544
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosp... OMIM:619858
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... OMIM:300310
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... OMIM:618858
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Lipodystrophy, Partial, Acquired, Susceptibility To
Hirsutism, Nephrotic syndrome, Abnormal circulating lipid concentration, Loss of truncal subcutan... OMIM:608709
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces... OMIM:617006
Type 1 Diabetes Mellitus
Polyuria, Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... OMIM:247800
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Atrial s... OMIM:614868
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Hepatomegal... OMIM:615559
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Elevated circulating C-reactive protein concentration, Pulmonary hemo... OMIM:616414
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated circulating aspar... OMIM:619658
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Progressive loss of faci... OMIM:613913
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Cardiomyo... OMIM:613313
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent abscess format... OMIM:613860
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Hemolytic anemia, Acute kidney injury... OMIM:615008
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Recurrent... OMIM:613501
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... OMIM:606176
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Cystic Echinococcosis
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Multiple pulmonary cysts, ... ORPHA:400
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Idiopathic Achalasia
Decreased prealbumin level, Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis, Weight loss ORPHA:930
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Vasculitis in t... ORPHA:319552
Pulmonary Blastoma
Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea, Weight loss ORPHA:64741
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Cd8 Deficiency, Familial
Bronchiectasis, Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory... OMIM:608957
Butyrylcholinesterase Deficiency
Abnormal enzyme/coenzyme activity, Respiratory failure requiring assisted ventilation, Myocardial... ORPHA:132
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia, Splenomegaly OMIM:619437
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Elevated h... ORPHA:369
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Bacterial Toxic-Shock Syndrome
Respiratory distress, Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumo... ORPHA:36234
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia OMIM:615561
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Myocardial infarction, Proteinuria, Gastrointestinal hem... ORPHA:91139
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... OMIM:256020
Fadd-Related Immunodeficiency
Ventricular septal defect, Decreased liver function, Hepatic fibrosis ORPHA:306550
Idiopathic Pulmonary Hemosiderosis
Failure to thrive, Hepatomegaly, Nodular pattern on pulmonary HRCT, Hepatosplenomegaly, Crackles,... ORPHA:99931
Azotemia, Familial
Azotemia OMIM:109160
Glycogen Storage Disease Iii
Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Ventricular hypertrophy, Cardiomyo... OMIM:232400
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Maternal di... OMIM:604367
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Hepatic failure, Splenomegaly, Cirrhosis, Acute hepatic failur... OMIM:278000
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Long penis, Hypoglycemia, In... OMIM:262190
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Decreased glomerular filtration rate, Hematuria, Hyperkalemia, Elev... ORPHA:340
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... OMIM:600803
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatic fibrosis, Por... OMIM:616278
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Elevated circul... OMIM:619662
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketonuria, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Gastritis, Alopecia, Eczema, Decreased prealbumin level, Pneumonia, Failure... ORPHA:37042
Coach Syndrome 2
Apneic episodes in infancy, Congenital hepatic fibrosis, Elevated hepatic transaminase, Hepatic f... OMIM:619111
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy, Membranoproliferative glomerulonephritis, Cardiac shunt OMIM:305800
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... OMIM:611521
Preeclampsia
Chronic kidney disease, Abnormality of the hepatic vasculature, Small for gestational age, Abnorm... ORPHA:275555
Autoinflammation, Immune Dysregulation, And Eosinophilia
Failure to thrive, Asthma, Nephrotic syndrome, Eosinophilic liver infiltration, Atopic dermatitis... OMIM:618999
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Abnormal bleeding, Cirrhosis, Cholestasis, Hepatic fibr... OMIM:231100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Coombs-positive hemolytic anemia, Alopecia, Eczema, Eosinophilia, Glomerulonep... OMIM:304790
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... ORPHA:656
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... ORPHA:449395
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... ORPHA:470
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Thrombocytopenia, Proteinuria, Hypertension OMIM:189800
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Anterior uveitis, Reversible renal failure, Non-caseating epithelioid cell granulomat... OMIM:607665
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... OMIM:614034
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... OMIM:613255
Porphyria Cutanea Tarda, Type I
Eczema, Hepatic fibrosis OMIM:176090
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent pneumonia, Recurrent otitis media, Recurren... OMIM:613500
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Eczema, Chronic sinusitis, O... ORPHA:443811
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Abnormal proportion of naive CD4 T cells, Proteinuria, Transient ischemic attack, S... ORPHA:1830
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic b... OMIM:619902
C3 Glomerulopathy 3
Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease, Renal insufficiency OMIM:614809
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level, Hematuria OMIM:314000
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... ORPHA:48435
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... OMIM:161900
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure OMIM:616719
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Recurrent fungal infections, Viral hepatitis, Colitis, Recurrent ... OMIM:209920
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Recurrent bacterial infections, Recurrent sinusitis, Meningitis, Recu... OMIM:240500
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, Bruising susceptibi... OMIM:619484
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Pulmonary embolism, Cerebral ischemia, Myocardial infarction, Increas... ORPHA:3325
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Elevated gamma-glutamyltransferase level, Elevated circul... OMIM:603471
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Recurrent bacterial infections, Recurrent sinusitis, Recurrent bronch... OMIM:607594
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Pulmonic stenosis, Cholestasis, Situs inversus totali... OMIM:615382
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Arthritis, Hemolytic anemia, Pleuritis, Lupus nephritis, Malar rash, Peric... OMIM:152700
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Recurrent... OMIM:605258
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... ORPHA:75566
Majeed Syndrome
Failure to thrive, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Flexion contract... ORPHA:77297
Immune Deficiency Disease
Recurrent viral infections, Recurrent bacterial infections, Fulminant hepatitis, Cholangitis OMIM:242850
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Hypertension, A... OMIM:603278
Thymoma
Rheumatoid arthritis, Neoplasm of the lung, Myositis, Aplastic anemia, Cough, Imbalanced hemoglob... ORPHA:99867
Acquired Partial Lipodystrophy
Generalized hirsutism, Lipoatrophy, Lymphocytosis, Proteinuria, Glomerulopathy, Hepatic steatosis... ORPHA:79087
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Cerebral vasculi... OMIM:243700
Brucellosis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Myocarditis, Epididymitis, P... ORPHA:1304
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media, Conjunctivitis, Recu... OMIM:613493
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:613944
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Fulminant hepatit... ORPHA:2137
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Thyroiditis, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocyto... OMIM:619375
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... OMIM:608184
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233710
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Hepa... OMIM:615415
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Recu... ORPHA:183675
Retinitis Pigmentosa 89
Bicuspid aortic valve, Micronodular cirrhosis, Intrahepatic bile duct dilatation, Hepatosplenomeg... OMIM:618955
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in... OMIM:618348
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Portal hypert... OMIM:616589
Scedosporiosis
Unusual skin infection, Opportunistic fungal infection, Sinusitis, Unusual CNS infection, Osteomy... ORPHA:449280
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Transaldolase Deficiency
Asthma, Decreased liver function, Atrial septal defect, Hepatomegaly, Micronodular cirrhosis, Spl... OMIM:606003
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Recurrent bacterial infections, Eczema, Lymphadenitis, Cholestasis, H... OMIM:615895
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... ORPHA:54370
Mpi-Cdg
Decreased liver function, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic fibrosis, Port... ORPHA:79319
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly OMIM:607624
Immunodeficiency 23
Asthma, Failure to thrive, Lymphopenia, Vasculitis in the skin, Eczema, Membranoproliferative glo... OMIM:615816
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Diffuse Alveolar Hemorrhage
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Irregular septal thickening on... ORPHA:90060
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Polymyositis
Hepatomegaly, Myocardial infarction, Gastrointestinal hemorrhage, Weight loss, Pericarditis, Elev... ORPHA:732
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Supernumerary nipple, Inguinal hernia, Chronic tubulointerstitial nephritis, Renal ... OMIM:614376
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Myocarditis, Abnormal pleura morphology, Myocardial infarction, Increased inflammatory... ORPHA:183
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Hyper... OMIM:601894
Tuberculosis
Abnormal lung morphology, Weight loss, Cough ORPHA:3389
Pauci-Immune Glomerulonephritis
Abnormality of the pulmonary vasculature, Small vessel vasculitis, Pancreatitis, Decreased glomer... ORPHA:93126
Wild Type Attr Amyloidosis
Nephrotic syndrome, Pulmonary edema, Hepatomegaly, Elevated circulating alkaline phosphatase conc... ORPHA:330001
Immunodeficiency 27B
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... OMIM:615978
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Hepatomegaly, Splenomegaly, Abnormal bleeding, Recurrent skin infections, Recurrent ba... OMIM:612840
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Anemia, Hepatosplenomegaly, Increased circulating IgG ... OMIM:209950
Al Amyloidosis
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Renal interstitial amyloid... ORPHA:85443
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233690
Cocaine Intoxication
Respiratory distress, Supraventricular arrhythmia, Subarachnoid hemorrhage, Hematuria, Pneumothor... ORPHA:90068
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... OMIM:620010
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Ketonuria, Glycosuria, Hyperglycemia OMIM:618857
Specific Granule Deficiency 1
Recurrent bacterial infections, Low neutrophil alkaline phosphatase OMIM:245480
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Hypoxemia, Multiple pulmonary cys... ORPHA:723
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, R... ORPHA:563
Thymic Aplasia
Recurrent candida infections, Sinusitis, Recurrent streptococcus pneumoniae infections, Recurrent... ORPHA:83471
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Hypersplenism, Uveitis, Ret... ORPHA:3261
C1Q Deficiency
Membranoproliferative glomerulonephritis OMIM:613652
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Chronic sinusitis, Recurrent pneumonia, Rec... OMIM:612692
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
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Decreased serum creatinine, Hematuria, Arrhythmia, Myocardial ... ORPHA:54057
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney diseas... OMIM:301006
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Coarse hair, Enlarged kidney, Long eyelashes, Proteinuria, Ne... OMIM:617303
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Hepatomegaly, Rig... OMIM:613404
Nephrotic Syndrome, Type 2
Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine... OMIM:600995
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Dilated cardiomyopathy, Elevated hepatic transamina... ORPHA:79230
Complement Component 4A Deficiency
Glomerulonephritis, Vasculitis OMIM:614380
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Splenomegaly OMIM:271500
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Pulmonary Arteriovenous Malformation
Telangiectasia, Bacterial endocarditis, Hemothorax, Abnormal bleeding, Pulmonary hemorrhage, Palp... ORPHA:2038
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Primary Biliary Cholangitis
Onychomycosis, Recurrent fungal infections, Elevated circulating alkaline phosphatase concentrati... ORPHA:186
Felty Syndrome
Hepatomegaly, Weight loss, Pericarditis, Rhinitis, Cellulitis, Splenomegaly, Recurrent urinary tr... ORPHA:47612
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Systolic heart... ORPHA:99103
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Chronic oral candidiasis, Hepatomegaly, Recurrent cutaneous ... ORPHA:276
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Nephropathy, Hematuria, Cholestasis, P... OMIM:105200
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure ORPHA:466794
Systemic Sclerosis
Alopecia, Myocarditis, Proteinuria, Pericarditis, Albuminuria, Osteomyelitis, Flexion contracture... ORPHA:90291
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Hepatocellular carcinom... ORPHA:370
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
X-Linked Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Hypocalcemia, Cellulitis, Alopecia, Skin rash, Anemi... ORPHA:47
Reticular Dysgenesis
Failure to thrive, Skin rash, Anemia, Leukopenia, Chronic otitis media, Abnormality of neutrophil... ORPHA:33355
Galactosemia I
Failure to thrive, Increased level of galactitol in urine, Decreased liver function, Increased le... OMIM:230400
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent candida infections, Sinusitis, Recurrent fungal infecti... ORPHA:572
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media OMIM:613502
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Cirrhosis... OMIM:300972
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Abnormal erythrocyte en... ORPHA:264580
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis OMIM:608106
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Diffuse mesangial sclerosis... OMIM:256300
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Hematuria, Elevated ... ORPHA:49041
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Unroofed coronary sinus, Anomalous pulmonary venous return, Systolic... ORPHA:99104
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... OMIM:307200
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Weight loss, Pericarditis, Sta... OMIM:619487
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Thrombocytopenia,... ORPHA:2134
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Hepatomegaly, Multiple pulmonary cysts, Rheumatoid arthritis, Ecze... ORPHA:79128
Adult-Onset Still Disease
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Arthritis, Elevated hepatic transaminase, Men... ORPHA:829
Legionnaires Disease
Pancreatitis, Hematuria, Myocarditis, Abnormal pleura morphology, Proteinuria, Abnormal lung morp... ORPHA:549
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Hyperlipidemia, Hypertension, Macroscopic hematuria, Pulmonary embolism, ... ORPHA:567546
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... ORPHA:53035
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Anemia... ORPHA:100024
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Hepatomegaly, Skin rash, Splenomegaly, Recurrent bacterial infections, Cough,... ORPHA:36412
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Chronic bronchitis, Nonproducti... ORPHA:79127
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:161950
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... OMIM:300555
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Eosinophilic Fasciitis
Muscular edema, Abnormal eosinophil morphology, Cellulitis, Eosinophilia, Myositis, Arthritis, Fa... ORPHA:3165
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic fa... ORPHA:567983
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Myh9-Related Disease
Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Increased mean ... ORPHA:182050
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... ORPHA:251004
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated... ORPHA:85450
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Pustule, Skin rash, Lymphocytosis, Acute hepatic failure, Interstitial pneumo... ORPHA:139402
Goodpasture Syndrome
Increased DLCO, Pulmonary hemorrhage, Reticular pattern on pulmonary HRCT, Glomerular crescent fo... OMIM:233450
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Chronic kidney disease, Hypomagnesemia, Type 2 muscle fiber atrophy, Respirato... OMIM:613845
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Nonproductive cough,... ORPHA:2902
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Enamel hypoplasia, Focal segmental glomerul... OMIM:618349
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormal cardiac ventricu... ORPHA:439232
Whim Syndrome 1
Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Allergic Bronchopulmonary Aspergillosis
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... ORPHA:1164
Caroli Syndrome
Melena, Cholangiocarcinoma, Pancreatitis, Hematemesis, Hepatomegaly, Hepatic failure, Abnormal bl... ORPHA:480520
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:911
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... OMIM:603965
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hypophosphatemia, Renal tubular acidosis, Nephropathy, Glycosuria, Hy... ORPHA:2088
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Hepatomegaly, Atrial septal defect, Splenomegaly, Cirrhosis, Pancreatic fi... OMIM:208540
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, R... ORPHA:75249
Oculopharyngodistal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of orbicularis oris muscle, Distal low... ORPHA:98897
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Cough, Abnormal cardiovascular sy... ORPHA:50251
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria ORPHA:2613
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... ORPHA:541423
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Fine hair, Synophrys, Proteinuria, Glomerulonephritis, Glomerula... OMIM:619428
Galactose Epimerase Deficiency
Hepatomegaly, Aminoaciduria, Splenomegaly, Weight loss, Jaundice ORPHA:79238
Complement Factor I Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent skin infections, Recurrent urinary tract... OMIM:610984
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio... OMIM:616818
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Seps... ORPHA:169090
Fibronectin Glomerulopathy
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Renal insuffic... ORPHA:84090
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Muscle fiber atrophy, Elevated circulating long... ORPHA:228302
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Viral hepatitis, Periportal fibrosis, Abnormal enzyme/coenzy... ORPHA:101330
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Nep... ORPHA:2298
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic failure, Cirrhosis, Respiratory insufficiency, Elevated circulating asparta... OMIM:615486
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chr... OMIM:615573
Cryptogenic Organizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Hypoxe... ORPHA:1302
Q Fever
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis... ORPHA:781
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... ORPHA:507
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Arrhythmia, Proteinuria, Renal insufficiency, Glomerulo... ORPHA:225
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... OMIM:613237
Rheumatic Fever
Abnormal mitral valve morphology, Sinusitis, Respiratory insufficiency, Arrhythmia, Endocarditis,... ORPHA:3099
Orthostatic Hypotension 1
Neonatal hypoglycemia, Hypomagnesemia, Nocturia, Increased blood urea nitrogen OMIM:223360
Granulomatosis With Polyangiitis
Angina pectoris, Pancreatitis, Elevated circulating C-reactive protein concentration, Otitis medi... ORPHA:900
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... OMIM:617222
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Elevated aldolase level, Type 2 muscle fiber a... ORPHA:99845
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension OMIM:607832
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Small for gestational age, H... OMIM:609015
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Systemic Capillary Leak Syndrome
Pancreatitis, Pulmonary edema, Leukocytosis, Abnormal renal tubule morphology, Arrhythmia, Myocar... ORPHA:188
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Elevated circulating alkaline phosphatase concentration, ... ORPHA:247691
Scrub Typhus
Skin rash, Splenomegaly, Abnormal bleeding, Hypotension, Myocarditis, Cough, Anterior uveitis, Me... ORPHA:83317
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Hypertension, Abnormal... ORPHA:767
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Hepatic failu... OMIM:251880
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... OMIM:618641
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Arrhythmia, Myocarditis, Cough, Infectious encephalitis, D... ORPHA:3386
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... ORPHA:42
Primary Sjögren Syndrome
Airway obstruction, Chronic active hepatitis, Increased circulating antibody level, Abnormal pulm... ORPHA:289390
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Acute respiratory distress syndrome, Exocrine pancreatic insufficiency, Atrial septal defect, Ele... OMIM:620005
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Alopecia, Hematuria, Proteinuria, Microangiopathic hemolytic anemia, Dark uri... ORPHA:93552
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:306400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Pneumonia, Increased circulating free fatty acid level, Jaund... ORPHA:26793
Eosinophilic Gastroenteritis
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Atopic ... ORPHA:2070
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Ventricular septal defect, Hepatic fibr... OMIM:615630
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-positive T... ORPHA:133
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Respiratory arrest, Periportal fibrosis, Necrotizing enter... OMIM:201475
Anti-Glomerular Basement Membrane Disease
Respiratory insufficiency, Hematuria, Vasculitis, Cough, Arthritis, Renal insufficiency, Proteinu... ORPHA:375
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Foot dorsiflexor weakness, Focal segmental glomerulosclerosis, Proteinuria, Distal upper limb amy... OMIM:614455
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Hyperglycemia, Increased circulating cortisol level OMIM:615954
Rhabdoid Tumor
Neoplasm of the liver, Renal neoplasm, Respiratory insufficiency, Hematuria, Weight loss, Hyperca... ORPHA:69077
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Renal insufficie... OMIM:245900
Senior-Loken Syndrome
Hypertension, Congenital hepatic fibrosis ORPHA:3156
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Hepatic failure, Abnormal bleeding, Sepsis, Hypotension, Myocard... ORPHA:292
Fechtner syndrome
Neutrophil inclusion bodies, Nephritis, Hematuria, Leukocyte inclusion bodies, Proteinuria, Giant... OMIM:153640
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent upper and lower respiratory tract infections, Osteomyelitis, Pustule, H... ORPHA:171876
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Elevated circulating alkaline phosphatase concentration, Leukocytosis, Anemia, Ple... ORPHA:67
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Failure to thrive, Renal tubular dysfunction, Decreased liver function, Hep... OMIM:220110
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Elevated circulating aspartate aminotransferase concentration, Elevated gamm... OMIM:619481
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Joubert Syndrome 9
Apnea, Hepatic fibrosis, Episodic tachypnea OMIM:612285
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypothermia, Lacticaciduria, Respiratory insufficiency, Methylmalonic aciduria... OMIM:245400
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Polysplenia, Respirator... ORPHA:244
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Cholestasis, Ventricular septal defect, Prolonged neonatal jaundic... OMIM:301068
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Hypoglycemi... ORPHA:230
Aggressive Systemic Mastocytosis
Decreased liver function, Neutropenia, Abnormal mast cell morphology, Elevated circulating alkali... ORPHA:98850
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle fiber atrophy, Decreased muscle mass, Elevated creatine kinase after exercise, EMG: myopat... ORPHA:57
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Eczematoid dermatitis, Skin rash, Chronic mucocutaneous candidiasis,... OMIM:147060
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... ORPHA:171
Carcinoma Of Esophagus
Obesity, Weight loss, Cough ORPHA:70482
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections ORPHA:169079
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Failure to thrive, Decreased liver function, Hepatomegaly, Aminoacidur... ORPHA:436271
Neuroleptic Malignant Syndrome
Elevated circulating alkaline phosphatase concentration, Proteinuria, Hyperuricemia, Hypothermia,... ORPHA:94093
Complement Component 5 Deficiency
Recurrent meningococcal disease, Generalized seborrheic dermatitis, Recurrent Neisserial infections OMIM:609536
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Hepatocellular carcinom... ORPHA:79240
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Anemia, Abnormality of the k... ORPHA:54251
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Decreased body weight, Focal segmental glomerulosclerosis, Proteinuria, Hypoa... OMIM:618347
Omenn Syndrome
Recurrent fungal infections, Hepatomegaly, Splenomegaly, Recurrent bacterial infections, Pneumoni... OMIM:603554
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Gastrointestinal hemorrhage, Spontaneous pneumot... ORPHA:731
Schimke Immunoosseous Dysplasia
Coarse hair, Proteinuria, Pancytopenia, Transient ischemic attack, Abnormal T cell morphology, St... OMIM:242900
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Decre... OMIM:618913
Syndromic Diarrhea
Bicuspid aortic valve, Colitis, Atrial septal defect, Hepatomegaly, Hepatoblastoma, Splenomegaly,... ORPHA:84064
Dominant Beta-Thalassemia
High-output congestive heart failure, Splenomegaly, Cirrhosis, Chronic hepatitis, Hepatocellular ... ORPHA:231226
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Apnea, Cerebral hemorrhage, Leukocytosis, Lymphaden... OMIM:618886
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Reduced carnitin... ORPHA:157
Bronchial Neuroendocrine Tumor
Asthma, Hepatomegaly, Tricuspid regurgitation, Increased circulating cortisol level, Nonproductiv... ORPHA:97287
Oligomeganephronia
Congenital diaphragmatic hernia, Decreased glomerular filtration rate, Pulmonary venous occlusion... ORPHA:2260
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Hyperglycemia OMIM:175700
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema OMIM:300299
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Recurren... OMIM:610199
Antisynthetase Syndrome
Telangiectasia of the skin, Skin rash, Respiratory insufficiency, Myositis, Myocarditis, Cough, A... ORPHA:81
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Periportal fibrosis, Elevated circulating alkaline phosph... ORPHA:30391
Adult Idiopathic Neutropenia
Recurrent fungal infections, Recurrent bacterial infections, Helicobacter pylori infection, Recur... ORPHA:2688
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Chronic kidney disease, Absent eyebrow, F... OMIM:137940
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Hepatic failure ORPHA:2724
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Nephrotic syndrome, Small for gestational age, Mucopolysaccharid... OMIM:215250
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hy... ORPHA:1345
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Myoglobinuria, E... ORPHA:228305
Coach Syndrome 1
Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrhosis, Elevated hepatic transa... OMIM:216360
Imerslund-Gräsbeck Syndrome
Failure to thrive, Megaloblastic anemia, Neutropenia, Hypersegmentation of neutrophil nuclei, Ret... ORPHA:35858
Takayasu Arteritis
Hypertension, Anemia, Hypertrophic cardiomyopathy, Vasculitis, Arthritis, Cerebral ischemia, Myoc... ORPHA:3287
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... ORPHA:90003
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Dyspnea, Anemia, Thrombocytopenia ORPHA:517
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Long penis, Fasting hypoglycemia, Hyperglycemia OMIM:246200
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss, Arthralgia/arthritis ORPHA:411593
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Intracranial hemorrhage, C... ORPHA:3226
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Sepsis, Recurrent bacterial infe... OMIM:308230
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Hypertrichosis, Airway obstruction, Heparan sulfate excretion in urine, Enl... ORPHA:505248
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... ORPHA:99095
Pulmonary Alveolar Microlithiasis
Increased circulating surfactant protein level, Hepatomegaly, Hematuria, Hypoxemia, Weight loss, ... ORPHA:60025
Wilson Disease
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Anemia, Proximal muscle weakness ... ORPHA:905
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic failure, Abnormal bleeding, Cirrhosis, Hepatic fibrosis OMIM:602579
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Aminoaciduria, Cachexia, Proximal tubulopathy, Weight loss OMIM:612075
Mixed Connective Tissue Disease
Hepatomegaly, Gastritis, Skin rash, Splenomegaly, Myositis, Myocarditis, Arthritis, Keratoconjunc... ORPHA:809
Squalene Synthase Deficiency
Hypospadias, Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cho... OMIM:618156
Free Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculat... ORPHA:834
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Pustule, Elevated creatine kinase after exercise, Exercise-induced rhabdo... ORPHA:284426
Renal Hypoplasia
Chronic kidney disease, Small for gestational age, Abnormal renal tubule morphology, Unilateral r... ORPHA:93101
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Aminoaciduria, Hyperammonemia ORPHA:664
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... ORPHA:2041
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Uremic Pruritus
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... ORPHA:94059
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Lymphatic Filariasis
Nephrotic syndrome, Orchitis, Urethral obstruction, Abnormality of the kidney, Lymphadenitis, Hem... ORPHA:2035
Bardet-Biedl Syndrome 9
Renal insufficiency, Hyperglycemia OMIM:615986
Xanthinuria, Type Ii
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... OMIM:603592
Alveolar Echinococcosis
Abnormal skeletal muscle morphology, Hepatic cysts, Weight loss, Jaundice, Pancreatic cysts, Incr... ORPHA:284
Ddost-Cdg
Failure to thrive, Nephrotic range proteinuria, Lipodystrophy, Elevated hepatic transaminase, Hep... ORPHA:300536
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyper... OMIM:608612
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... OMIM:235400
Beta-Thalassemia Major
High-output congestive heart failure, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, ... ORPHA:231214
Laryngeal Neuroendocrine Tumor
Exertional dyspnea, Weight loss, Elevated carcinoembryonic antigen level ORPHA:100083
Yao Syndrome
Nephrolithiasis, Asthma, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis si... OMIM:617321
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Enlarged... ORPHA:79259
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent upper and lower respiratory tract infections, Recurrent fungal infections, Hepatomegaly... ORPHA:331206
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia, Hepatomegaly, Hyperammonemia, Elev... ORPHA:159
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Decreased level of coenzyme Q10 in skeletal muscle, ... OMIM:607426
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
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia, Respiratory insufficiency, Arrhythmia, Skeletal muscle atrophy, My... ORPHA:157973
Rat-Bite Fever
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Sepsis, Lymphadenitis,... ORPHA:31205
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Erysipelas, Pleuritis, Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Farber Disease
Respiratory distress, Abnormal enzyme/coenzyme activity, Hepatic failure, Respiratory insufficien... ORPHA:333
Congenital Disorder Of Glycosylation, Type Iiw
Failure to thrive, Hepatomegaly, Prolonged neonatal jaundice, Inguinal hernia, Splenomegaly, Elev... OMIM:619525
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Inguinal hernia, Splenomegaly, Urinary excretion of sialyla... OMIM:256550
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Alport Syndrome
Glomerular C3 deposition, Hematuria, Thickened glomerular basement membrane, Proteinuria, Thin gl... ORPHA:63
Acquired Generalized Lipodystrophy
Generalized hirsutism, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, General... ORPHA:79086
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomeru... OMIM:617575
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elevated c... ORPHA:263455
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary infecti... ORPHA:486
Cednik Syndrome
Nephrotic syndrome, Proteinuria, Congestive heart failure ORPHA:66631
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Decreased circulating IgA level, Nephrotic syndrome, Decreased circulating IgG... OMIM:212065
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Senior-Boichis Syndrome
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Reduced n... ORPHA:84081
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis OMIM:616629
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia OMIM:220111
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia OMIM:619737
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Mitral regurgitatio... OMIM:612541
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephalitis, Weight loss ORPHA:42642
Holocarboxylase Synthetase Deficiency
Respiratory distress, Alopecia, Hyperammonemia, Eczema, Keratoconjunctivitis, Tachypnea, Perioral... ORPHA:79242
Immunodeficiency 67
Recurrent streptococcal infections, Liver abscess, Recurrent staphylococcal infections OMIM:607676
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Reduced carnitin... ORPHA:228308
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Hematuria, Vasculitis, Arthritis, Proteinuria, Renal... ORPHA:91138
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... OMIM:611881
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... OMIM:614377
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Glycogen accumulation in muscle fiber lysosomes, Recurrent myoglobinuria, Chronic kid... ORPHA:368
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Abnormal enzyme/coenzyme activity, Macroscopic ... ORPHA:976
Focal Myositis
Weight loss, Elevated circulating creatine kinase concentration, Myositis ORPHA:48918
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... OMIM:613673
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrioventricular canal defect, Hepatic failure, Sepsis, Elevated circulating aspart... OMIM:619573
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... ORPHA:276621
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascul... ORPHA:422
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... ORPHA:217607
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Hypoglycosylation of alpha-dystroglycan, Reduced vital capacity, Macroglossia, Proximal muscle we... ORPHA:352479
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Hepatomegaly, Anemia, Respiratory insufficiency, Hernia, Patent ductus arterio... ORPHA:1842
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Splenomegaly, Recurrent bacterial infections, Hypoxemia, Hypertensi... OMIM:603903
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... OMIM:274150
Refractory Celiac Disease
Hypomagnesemia, Inflammatory abnormality of the skin, Hypophosphatemia, Hypocalcemia, Hypoprotein... ORPHA:398063
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Beta-Ketothiolase Deficiency
Ketonuria, Hyperammonemia, Hypoglycemia, Hyperuricemia, Hyperglycemia ORPHA:134
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... OMIM:615244
Neutropenia, Severe Congenital, 3, Autosomal Recessive