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Gene: Tk1 MGI:98763

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
thymidine kinase 1
Synonyms:
Tk-1,  D530002A18Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tk1 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 Tk1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, R... ORPHA:449395
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Pauci-Immune Glomerulonephritis
Renal interstitial immunoglobulin deposits, Oral ulcer, Tubulointerstitial nephritis, Granulomato... ORPHA:93126
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Cardiac arr... ORPHA:139402
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Hepatomegaly, Foam cells with lamellar inclusion bodies, Decrea... OMIM:607616
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... ORPHA:2137
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Esophageal var... ORPHA:75234
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi... ORPHA:289390
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, I... ORPHA:37042
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Hepatomegaly, Pso... ORPHA:436159
Brucellosis
Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthr... ORPHA:1304
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... OMIM:614700
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Oral ulcer, Chronic mucocutaneous candidiasis, Lym... OMIM:608971
Extracranial Carotid Artery Aneurysm
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, T... ORPHA:494424
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Ap... OMIM:300635
Omenn Syndrome
Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, ... ORPHA:39041
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Recurrent skin infections, Malabsorption, Herpes simplex encephalitis, Recurrent up... OMIM:233600
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Diabetes mel... ORPHA:2348
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Pparg-Related Familial Partial Lipodystrophy
Dysmenorrhea, Maternal diabetes, Prominent veins on trunk, Hepatic steatosis, Hepatomegaly, Secon... ORPHA:79083
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Abnormali... ORPHA:2552
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Listeriosis
Respiratory distress, Liver abscess, Granulomatosis, Conjunctivitis, Cholecystitis, Infectious en... ORPHA:533
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Pneumonia, Decreased propor... ORPHA:83471
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Medial calcification of large arteries, Functional abnormality of the bladder, T... ORPHA:391487
Dextrocardia
Abnormal EKG, Meckel diverticulum, Intestinal malrotation, Abnormal reproductive system morpholog... ORPHA:1666
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Recurrent urinary tract infections, Sinusitis, Ataxia, Pneumonia, Pure red c... OMIM:613179
Melioidosis
Shock, Foot osteomyelitis, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infection, A... ORPHA:31202
Legionnaires Disease
Abnormal lung morphology, Cough, Infectious encephalitis, Hyponatremia, Ataxia, Recurrent pharyng... ORPHA:549
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion... OMIM:606367
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Genita... OMIM:602450
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... ORPHA:139507
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Increased ci... OMIM:613313
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Telangiectasia of the skin, Myocardial infarctio... ORPHA:679
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegaly, Dilated card... OMIM:602390
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion o... ORPHA:3261
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Ad... OMIM:617053
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Reni Syndrome
Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Ataxia, Proteinuria, Mesangial hy... OMIM:617575
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... ORPHA:171
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... OMIM:278000
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Pulmonary artery atresia, Neonatal death, Pelvic kidney, Cryptorch... OMIM:601186
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat... ORPHA:79230
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hep... ORPHA:79259
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... OMIM:614377
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Increased circulating thyroglobulin le... OMIM:610199
Matthew-Wood Syndrome
Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia ... ORPHA:2470
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Gingival bleeding, Ty... OMIM:618549
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Elevated pro... OMIM:619802
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys... OMIM:615109
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Thyroiditis... ORPHA:228426
Schimke Immuno-Osseous Dysplasia
Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephr... ORPHA:1830
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys... OMIM:615108
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... ORPHA:47
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Neutropenia,... OMIM:617303
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Proteinuria, Nodular regene... ORPHA:247691
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Papillary cystadenoma of the epididymis, Renal Fanconi syndrome, Hypothyroidism, Hepatic steatosi... ORPHA:93111
Cowden Syndrome 1
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys... OMIM:158350
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash... ORPHA:829
Variant Abeta2M Amyloidosis
Abnormal vascular morphology, Intestinal perforation, Chronic kidney disease, Abnormality of the ... ORPHA:314652
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Cleft lip, Dilated c... OMIM:616730
Aspergillosis
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Abnormality of t... ORPHA:1163
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure ORPHA:60
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Downturned corners of mouth, ... OMIM:618347
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, M... ORPHA:347
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, H... OMIM:619487
Schimke Immunoosseous Dysplasia
Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Abnorma... OMIM:242900
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media OMIM:614379
Niemann-Pick Disease, Type A
Recurrent respiratory infections, Hepatomegaly, Foam cells with lamellar inclusion bodies, Elevat... OMIM:257200
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Xerostom... ORPHA:85443
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira... ORPHA:656
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Anemia, ... OMIM:617056
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Eczema, Celiac disease, Thyroiditis, St... OMIM:212750
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... ORPHA:293978
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Dysmetria, Nephro... OMIM:301006
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone ... OMIM:602782
Acatalasemia
Premature loss of permanent teeth, Severe periodontitis, Reduced catalase level, Microcytic anemi... ORPHA:926
Alport Syndrome
Mesangial hypercellularity, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depositi... ORPHA:63
Aapoaiv Amyloidosis
Abnormal lung morphology, Left bundle branch block, Sinus bradycardia, Chronic pulmonary obstruct... ORPHA:439232
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney, Cholangitis, Eosinophilia, Retroperitoneal fibros... ORPHA:449432
Igg4-Related Ophthalmic Disease
Sinusitis, Elevated circulating C-reactive protein concentration, Cholangitis, Abnormality of the... ORPHA:449563
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, H... ORPHA:91138
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspne... OMIM:613490
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Elevated circulating creatine kinase con... OMIM:185070
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Eczema, Celiac disease, Thyroiditis, Delayed puberty OMIM:618985
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Neutropenia, Infectious encephalitis, Enteroviral hepatitis, E... OMIM:300755
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Hepatomegaly, Decreased proportion of naive T cells, Skin ra... ORPHA:276
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Angina pectoris, Splenomegaly, Lymphadenop... ORPHA:79292
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Thyroid Lymphoma
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Lymphadenopathy, Strido... ORPHA:97285
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Dysmenorrhea, Precocious at... ORPHA:280365
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased HDL cholester... OMIM:245900
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Hype... OMIM:232220
Macrophage Activation Syndrome
Increased inflammatory response, Hepatomegaly, Hypertriglyceridemia, Elevated circulating asparta... ORPHA:158061
Primary Ciliary Dyskinesia
Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility, Neonatal respiratory d... ORPHA:244
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Cleft lip, D... OMIM:618348
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Ataxia, Proteinuria, Gingival overgrowth, Nephrotic syndrome, Lo... OMIM:619428
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Cryptorchidism, Arterial stenosis, Cerebral artery atherosclerosis, Hypertension, Ne... ORPHA:1192
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Co... OMIM:235200
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... OMIM:613812
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Oral ulcer, L... ORPHA:50918
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Carious teeth, Hepatitis, Hypohidrosis, Thick vermilion border,... ORPHA:363523
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... OMIM:604250
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Oral ulcer, Leukopenia, Hashimoto thyroidi... OMIM:615688
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Dysbetalipoproteinemia
Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentr... ORPHA:412
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Abnormal c... ORPHA:264675
Q Fever
Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis... ORPHA:781
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Neonatal respiratory distress, Congenital nephr... OMIM:256300
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hyperte... ORPHA:79084
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... ORPHA:227990
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... OMIM:603965
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Hepatic steatosis, Bifid uvula, Hepatomegaly,... OMIM:614921
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar... ORPHA:397596
Sarcoidosis
Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Uveitis, ... ORPHA:797
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... ORPHA:227982
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Male hypogonadism, Hypo... OMIM:240300
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Increased circulating lactate dehydrogenase concentration, Protei... OMIM:614034
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... OMIM:304790
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Hypergonadotropic hypogonadism, Recurrent myoglobinuria, Ataxia, Proteinuria, Eleva... OMIM:607426
Symptomatic Form Of Hfe-Related Hemochromatosis
Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomyopathy,... ORPHA:465508
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... OMIM:616307
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Elevated circulating creatine kinase concentration, Stage 5 chronic kidney disease, ... OMIM:614455
Griscelli Syndrome
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepat... ORPHA:381
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:607765
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... ORPHA:31204
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna... OMIM:601346
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Hypertriglyceridemia 1
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration, Precocious ather... OMIM:145750
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Dyspnea, Splenomegaly, Abnormality of iron homeostasis, Anemia ORPHA:75563
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovarian cyst, Renal tubu... ORPHA:562
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome... ORPHA:169160
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoacid... OMIM:619991
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Low p... ORPHA:95427
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Hepato... OMIM:619126
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... ORPHA:36234
Tyrosinemia, Type I
Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hypophosphatemi... OMIM:276700
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen... OMIM:607594
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... ORPHA:811
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... OMIM:613237
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Tachycard... ORPHA:39812
Oculorenocerebellar Syndrome
Choreoathetosis, Nephropathy, Glomerular sclerosis OMIM:257970
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis OMIM:607832
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Abnormal gastrointestinal v... ORPHA:70475
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... OMIM:208540
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Large vessel vasculitis... ORPHA:49041
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Cryptorchidism... OMIM:614857
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis, Ankyloglossia OMIM:602361
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Ataxia, CNS foam cells, Bone-marrow foam cells, Low ... OMIM:607625
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Vascular granular osmiophilic material deposition, Arteriosclerosis, Stroke-like ... ORPHA:199354
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Aspiration pneumonia, Micr... ORPHA:141152
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Dysmetria, Hyperammonemia, Hyperornithinemia, Dysdiadochokinesis, Decreased liver f... OMIM:238970
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... OMIM:615710
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis... ORPHA:183675
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Ataxia, Dysmetria, Aplasia/Hypoplasia ... ORPHA:456312
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL choleste... ORPHA:209902
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... ORPHA:331235
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Celiac disease, Primary adrenal insufficien... ORPHA:3143
Frasier Syndrome
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca... OMIM:136680
Mody
Abnormality of the kidney, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin... ORPHA:552
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Lymphadeno... ORPHA:79078
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Increased circulating ferritin concentration, Osteoarthritis, El... OMIM:606069
Congenital Disorder Of Glycosylation, Type Iih
Ataxia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating creat... OMIM:611182
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Increased circulating ferritin concentration, Abnormal localization ... ORPHA:446
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulati... OMIM:308240
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Takayasu Arteritis
Arteritis OMIM:207600
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno... ORPHA:733
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Tularemia
Respiratory distress, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngea... ORPHA:3392
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... ORPHA:101330
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Precocious atherosclerosis, Renal salt wasting, Mi... ORPHA:275761
Galloway-Mowat Syndrome 5
Ataxia, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-... OMIM:617731
Temporal Arteritis
Retinal arteritis OMIM:187360
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... OMIM:231100
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Renal insufficiency, Hy... ORPHA:650
Chronic Mucocutaneous Candidiasis
Dyspareunia, Recurrent respiratory infections, Recurrent urinary tract infections, Skin rash, Abn... ORPHA:1334
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen ORPHA:89844
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Portal hypertension, Reduced forced... OMIM:613385
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Ataxia, CNS foam cells, Bone-marrow foam cells, Low... OMIM:257220
Werner Syndrome
Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vascular mor... ORPHA:902
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Cholesterol-Ester Transfer Protein Deficiency
Precocious atherosclerosis, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholest... ORPHA:79506
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutaneous candid... OMIM:269200
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95512
Hashimoto Thyroiditis
Hashimoto thyroiditis OMIM:140300
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... ORPHA:99413
Mosaic Monosomy X
Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... ORPHA:99228
Monosomy X
Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... ORPHA:99226
Turner Syndrome
Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... ORPHA:881
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno... OMIM:181000
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95513
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Neonatal respiratory distress, True hermaphroditism, Nephroblastoma,... OMIM:194080
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasa... OMIM:612444
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronch... OMIM:613807
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Autoimmune Thyroid Disease, Susceptibility To, 3
Thyroiditis OMIM:608175
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... ORPHA:276621
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Pneumonia, Eczema, Splenomegaly, Asthma, Lymphadenopathy, Dec... OMIM:607271
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Myocardial infarction, Premature coronary artery atheros... OMIM:604091
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia OMIM:247800
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... OMIM:603358
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb... OMIM:613404
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hypoparathyroidis... ORPHA:199299
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough, Foam cells OMIM:604809
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Asplen... OMIM:615415
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Hyponatremia, Leukocytosis, Anterior open-bite malocclusion, Hypothyroidism,... ORPHA:83601
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Hypoalbuminemia, Abnormal salivary gland mo... ORPHA:2298
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, High, narrow palate, Open mouth, Abnormal panc... ORPHA:2849
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Respiratory tract infection, Pulmonary embolism, Dyspnea, Chro... ORPHA:567546
Kawasaki Disease
Sterile pyuria, Conjunctivitis, Cholecystitis, Recurrent pharyngitis, Leukocytosis, Vasculitis, H... ORPHA:2331
Flynn-Aird Syndrome
Ataxia, Abnormality of the thyroid gland, Carious teeth, Primary adrenal insufficiency, Type II d... ORPHA:2047
Idiopathic Achalasia
Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia ORPHA:930
Spondyloenchondrodysplasia
Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Prote... ORPHA:1855
Gitelman Syndrome
Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyper... ORPHA:358
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hypothyroidism, Reti... ORPHA:300298
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration, Atherosclerosis OMIM:603813
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Aut... ORPHA:1572
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Myasthenia Gravis
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, ... ORPHA:589
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Gout, Increased LDL cholestero... OMIM:610947
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Hepatoblastoma, Spider hemangioma, Chronic pancre... OMIM:232240
Melas
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Nephropathy, Hypothyroidism, Hypop... ORPHA:550
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperlipidemia, Delayed puberty, Nephro... OMIM:232200
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Acne, Skin rash, Sudden cardiac death, Abnormal cerebral vascular mo... ORPHA:758
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... ORPHA:73263
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Throm... ORPHA:292
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Prominent superficial veins, Acute pancreatitis, Hypertriglyceridemia, Insulin-resi... OMIM:608600
Young Syndrome
Recurrent sinopulmonary infections, Bronchiectasis, Azoospermia, Congenital pulmonary airway malf... OMIM:279000
Immunodeficiency 32B
Recurrent respiratory infections, Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... OMIM:226990
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, Elevated circulating C-reacti... OMIM:619381
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, Hematochezia, Con... OMIM:243150
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hypothyroidism, Hepatomegaly,... OMIM:615846
Blau Syndrome
Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Ab... ORPHA:90340
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Odontoma, Myocarditis, Hepatic failure, Atherosclerosis ORPHA:2724
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... OMIM:214950
Rigid Spine Syndrome
Waddling gait, Pneumonia, Cardiac conduction abnormality, Abnormality on pulmonary function testi... ORPHA:97244
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:619220
Microlissencephaly
Pneumonia ORPHA:1083
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal circulating enzyme concentration or activity, Respiratory insufficiency d... ORPHA:2590
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Relapsing Polychondritis
Large vessel vasculitis, Uveitis, Anteriorly placed anus, Conjunctivitis, Cough, Chondritis, Glom... ORPHA:728
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e... ORPHA:48435
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... ORPHA:90186
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Nephrotic Syndrome, Type 22
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe... OMIM:144300
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Abnormality of ... OMIM:615952
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... ORPHA:29072
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Abnormal pleura morphology, Splenomegaly, Hepatitis, Mucopolysa... ORPHA:584
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... ORPHA:280679
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrine pancreatic insuff... OMIM:260370
Trichohepatoenteric Syndrome 1
Villous atrophy, Hepatic fibrosis, Hypoalbuminemia, Bifid uvula, Long philtrum, Hepatomegaly, Hyp... OMIM:222470
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Re... OMIM:620282
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... OMIM:277900
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Bronchial Neuroendocrine Tumor
Nonproductive cough, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy... ORPHA:97287
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade... OMIM:240500
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ... ORPHA:3260
Gm1-Gangliosidosis, Type Iii
Foam cells, Decreased beta-galactosidase activity, Ataxia OMIM:230650
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Diabetes mellit... ORPHA:261265
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Decreased HDL cholesterol concentr... OMIM:151660
Alagille Syndrome 1
Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral reflux, Renal h... OMIM:118450
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis OMIM:614602
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Chronic oral can... OMIM:212050
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Abnormality of the dentit... ORPHA:93598
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Malabsorption,... OMIM:209920
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Dilatation of the cerebral artery, Atherosclerosis ORPHA:91135
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia... ORPHA:572
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Decreased response to growth hormone st... OMIM:307200
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Dyspnea, Pneumothorax,... OMIM:612387
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Precocious atherosclerosis, Pulmonar... ORPHA:444490
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media, Asplenia OMIM:618948
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Intesti... ORPHA:2255
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Central retinal vessel vascular tortuosity, Chronic kidney disease, Calcif... OMIM:208060
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending ao... ORPHA:229
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... ORPHA:543
Recessive Mitochondrial Ataxia Syndrome
Increased serum pyruvate, Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Limb dysmetr... ORPHA:94125
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Hypochromic ... ORPHA:440713
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Diabetic ketoacidosis, Respiratory failure, Abn... ORPHA:70578
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhini... OMIM:244400
Gapo Syndrome
Delayed eruption of teeth, Dysmenorrhea, Abnormal cerebral vascular morphology, Nephrolithiasis, ... ORPHA:2067
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Hypoglossia With Situs Inversus
Respiratory distress, Asplenia, Upper airway obstruction, High palate, Hypodontia, Polysplenia, N... OMIM:612776
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Myocardial infarction, Hypertension, Hypercholesterolemia, Premature coronary ... OMIM:608320
Autoimmune Hypoparathyroidism
Prolonged QT interval, Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Dyspnea, Chronic m... ORPHA:36913
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormality of the tongue, Tip-toe gait, Gait disturbance, Aspiration pneumoni... ORPHA:216866
Farber Disease
Respiratory distress, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or... ORPHA:333
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Whim Syndrome
Lymphopenia, Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Res... ORPHA:51636
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Pancreatic Agenesis 2
Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in... OMIM:615935
Cockayne Syndrome
Urinary incontinence, Progressive gait ataxia, Retinal arteriolar constriction, Hepatomegaly, Ata... ORPHA:191
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... OMIM:618449
Dystonia 31
Abnormal posturing, Difficulty walking OMIM:619565
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Seve... ORPHA:83617
Acute Lung Injury
Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive prote... ORPHA:178320
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi... OMIM:620321
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Episodic hyperhidro... OMIM:223900
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Ataxia, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary... ORPHA:99885
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Abnormality of the t... ORPHA:186
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Coarctat... OMIM:617729
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Liver abscess, Neutrophilia, Abnormality of the kidney, Elevated c... ORPHA:54251
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinitis, Hypoth... OMIM:617577
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Increased propo... OMIM:618982
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Uveitis, Abnormal palate morphol... ORPHA:575
Immunodeficiency 102
Leukopenia, Hypothyroidism, Hepatomegaly, Autoimmune thrombocytopenia, Aphthous ulcer, Bronchiect... OMIM:301082
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis... OMIM:300991
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... ORPHA:79493
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Lathosterolosis
Elevated hepatic transaminase, Thick upper lip vermilion, Foam cells with lamellar inclusion bodi... OMIM:607330
Familial Cold Autoinflammatory Syndrome 3
Recurrent sinopulmonary infections, Allergic rhinitis, Asthma, Presyncope, Recurrent otitis media... OMIM:614468
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Productive cough... ORPHA:60033
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic e... OMIM:617638
Ogden Syndrome
Apnea, Maternal diabetes, Microvesicular hepatic steatosis, Deep philtrum, Ventricular tachycardi... OMIM:300855
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial br... ORPHA:449280
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Arthritis, Anemia ORPHA:37748
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Absent gallbladder, Diabetes mellitus, Intestinal malrotation, Colon perfor... OMIM:600001
Syndromic Diarrhea
Villous atrophy, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepatic fibrosis, H... ORPHA:84064
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Recurrent skin infections, Abnormality of the kidney, Decreased serum iron, Re... ORPHA:391372
Timothy Syndrome
Prolonged QT interval, Thin upper lip vermilion, Pneumonia, Bronchitis, Patent ductus arteriosus,... OMIM:601005
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Angina pectoris, Elevated ... ORPHA:565612
Lichen Planopilaris
Neoplasm of the oral cavity, Abnormal intestine morphology, Hepatitis ORPHA:525
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... OMIM:277700
Gaisböck Syndrome
Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Cholecystitis, Hypovo... ORPHA:90041
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased propo... ORPHA:275
Localized Scleroderma
Fasciitis, Abnormality of the kidney, Abnormality of the dentition, Raynaud phenomenon, Vasculiti... ORPHA:90289
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,... ORPHA:36238
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Unsteady gait, Gait ataxia, Nephrotic syndrome,... OMIM:254900
Aceruloplasminemia
Refractory anemia, Abnormal circulating enzyme concentration or activity, Decreased circulating c... ORPHA:48818
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Abnormal urine alpha-ketoglutarate concentration, Abnormal... ORPHA:31
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia, Premature coronary artery at... OMIM:618666
Neonatal Alloimmune Neutropenia
Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia, Maternal diabetes ORPHA:464370
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutrop... OMIM:150550
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Narrow mouth, Type I diabetes mellitus, Abnormal circulating lipid concentration, Hyperlipoprotei... ORPHA:1979
Paget Disease Of Bone 6
Nephrocalcinosis, Osteoarthritis, Coronary artery atherosclerosis, Elevated circulating alkaline ... OMIM:616833
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Abnormal lung lobation, Neonatal death, Neonatal respiratory distress, Hypospadias, Eso... OMIM:265380
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ne... ORPHA:85450
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis OMIM:618463
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia... ORPHA:210122
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal circulating carnitine concentration, Choreoathetosis, Renal tubular acidosis, Decreased ... ORPHA:431361
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Yellow Nail Syndrome
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Biliary tract neoplasm, Dyspnea, Nep... ORPHA:662
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... OMIM:266265
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Abn... ORPHA:228123
Atypical Werner Syndrome
Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Premature arteriosclerosis, Abno... ORPHA:79474
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Chronic p... OMIM:618986
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis, Decreased nasal nitric oxide, Infe... OMIM:615872
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... OMIM:618620
H Syndrome
Microcytic anemia, Micropenis, Psoriasiform dermatitis, Abnormality of the kidney, Cleft upper li... ORPHA:168569
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Mel... ORPHA:319218
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... OMIM:264800
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Pneumonia, Bronchitis, Elevated... ORPHA:420741
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... OMIM:616860
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Leptospirosis
Respiratory distress, First degree atrioventricular block, Uveitis, Cough, Hepatomegaly, Cellular... ORPHA:509
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Hepatitis, Intestin... ORPHA:436252
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Crazy paving pattern, Crackles, Dyspnea, Intraalveola... ORPHA:747
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:615481
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... OMIM:300845
Estrogen Resistance Syndrome
Acne, Enlarged polycystic ovaries, Elevated tissue non-specific alkaline phosphatase, Increased c... ORPHA:785
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Papillary cystad... OMIM:193300
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Renal insufficiency, Polyuria, Elevated circulating creatinine ... OMIM:619468
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal renal tubule morphology, Abnorm... ORPHA:732
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s... ORPHA:2357
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Abn... ORPHA:228119
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Incre... ORPHA:60025
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... OMIM:615947
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A... OMIM:616100
Familial Mediterranean Fever
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Nephropathy, Panc... ORPHA:342
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Anhidrosis, Pneumonia, Splenomegaly, Lymphadenopathy, Amelogenesi... ORPHA:169090
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... OMIM:601457
Von Hippel-Lindau Disease
Myocardial infarction, Pancreatic endocrine tumor, Hyperhidrosis, Adrenal pheochromocytoma, Papil... ORPHA:892
Shigellosis
Intestinal perforation, Abnormal blood ion concentration, Uveitis, Paralytic ileus, Hypovolemic s... ORPHA:810
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Ataxia, Proteinuria, Elevated circulating C-reactive p... ORPHA:355
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Multiple pulmonary cysts, Hepatomegaly, Raynaud phenomenon, Medi... ORPHA:79128
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concent... OMIM:210250
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, P... ORPHA:90790
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Acute Interstitial Pneumonia
Crackles, Nodular pattern on pulmonary HRCT, Elevated circulating C-reactive protein concentratio... ORPHA:79126
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Intestinal malrotation, Asplenia, Cryptorchidism, Patent du... ORPHA:99776
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Abnormal circulating citrullin... ORPHA:415
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Hiatus hernia, Stage 5 chronic kidney disease, Choreoathetosis, Foca... OMIM:619603
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas... OMIM:612649
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pancytopenia, Ataxia, Pneumonia, Oligosacchariduria, Hepatosplenomegaly, Ma... ORPHA:309288
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Persistence of primary teeth, Vasculitis, Respi... ORPHA:375
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... ORPHA:562639
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin ... OMIM:102700
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, High, narrow palate, Abnormal left ventricular function, Abdo... ORPHA:91387
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... ORPHA:79124
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:604292
Diethylstilbestrol Syndrome
Central apnea, Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertilit... ORPHA:1916
Tangier Disease
Accelerated atherosclerosis, Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectio... ORPHA:31150
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Adrenal hypoplasia, Precocious atherosclerosis, Stroke, Arrhythmia ORPHA:230839
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Alström Syndrome
Respiratory distress, Abnormality of dental color, Urinary incontinence, Decreased response to gr... ORPHA:64
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Cherry red spot of the macula, Hepatomegaly, Ataxia, Aut... ORPHA:77293
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C... ORPHA:900
Neurofibroma
Neoplasm of the trachea, Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Int... ORPHA:252183
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, High, narrow palate, Restrictive ventilatory de... ORPHA:98897
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez... OMIM:613808
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Elevated circulating creatine kinase concentration, Tac... ORPHA:26793
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... OMIM:615451
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... OMIM:603909
Autosomal Dominant Polycystic Kidney Disease
Renal cyst, Abnormal systemic arterial morphology, Decreased glomerular filtration rate, Elevated... ORPHA:730
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Apnea, Pancreatic hypoplasia, Anemia, Pancreatic aplasia OMIM:609069
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Vici Syndrome
Elevated circulating creatine kinase concentration, Leukopenia, T lymphocytopenia, Abnormal thymu... OMIM:242840
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr... OMIM:608184
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Intestinal polyposis, Angina pectoris, Abnormal large intestine m... ORPHA:109
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Atherosclerosis OMIM:610842
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... ORPHA:53693
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... OMIM:616433
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, B... OMIM:617091
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Cough, Glomerulopathy, ... ORPHA:183
Niemann-Pick Disease Type C
Hepatomegaly, Ataxia, Bone-marrow foam cells, Low cholesterol esterification rate, Splenomegaly, ... ORPHA:646
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Oral ulcer, Infectious encephalitis, Glomeru... ORPHA:117
Alkaptonuria
Coronary artery calcification, Myocardial infarction, Osteoarthritis, Nephrolithiasis, Hypertensi... ORPHA:56
Meckel Syndrome, Type 1
External genital hypoplasia, Adrenal hypoplasia, Asplenia, Ambiguous genitalia, female, Lobulated... OMIM:249000
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Hypospadias, Bronchiectasis, Respiratory insufficiency, Hyperammonemia, Aspiration pneumon... OMIM:618253
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin, Pneumonia ORPHA:319552
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus a... OMIM:603467
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Lacrimoauriculodentodigital Syndrome
Xerostomia, Orofacial cleft, Vesicoureteral reflux, Microdontia, Abnormal salivary gland morpholo... ORPHA:2363
Gm1 Gangliosidosis
Recurrent respiratory infections, Ataxia, Congestive heart failure, Patent ductus arteriosus, Uns... ORPHA:354
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Steppage gait, Increased total ir... OMIM:613280
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Myocardial infarction, Osteoarthritis, Intracranial hemo... ORPHA:740
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, B... OMIM:617092
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, High palate, B lymphocytopenia, Chronic ... OMIM:614069
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Decrea... ORPHA:556955
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo... ORPHA:340
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Small scrotum, Tented upper lip vermilion, Pneumonia, Cryptorch... ORPHA:98905
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorr... ORPHA:319251
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Cough, Hilar lymph node enlargement, Hepatomegaly, Tricuspid regurgitation, Mediastinal... OMIM:620233
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration OMIM:616239
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Elevated circulating creatine kinase concentration, Oral mucosal blisters, Abnor... ORPHA:158684
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Ataxia, Proteinuria, Hiatus hernia, Wide mouth,... OMIM:251300
Bloom Syndrome
Bronchitis, Uveitis, Otitis media, Stomach cancer, Male infertility, Decreased proportion of CD4-... ORPHA:125
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Recurrent respiratory infections, Bronchiectasis, Decreased nasal nitric oxide,... OMIM:620197
Giant Cell Arteritis
Hyperhidrosis, Cough, Abdominal aortic aneurysm, Ataxia, Diabetes insipidus, Sudden cardiac death... ORPHA:397
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... ORPHA:140896
Muir-Torre Syndrome
Endometrial carcinoma, Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm... ORPHA:587
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Right Atrial Isomerism
Aortopulmonary collateral arteries, Asplenia, Abnormal lung lobation, Total anomalous pulmonary v... OMIM:208530
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, M... OMIM:219700
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the... OMIM:243700
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Skin rash, Ataxia, Jaundice, H... ORPHA:90062
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, External genital hypoplasia, Cryptorchidism, Heart murmur, Decreased testicular size ORPHA:1867
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia, Ataxia OMIM:619971
Ciliary Dyskinesia, Primary, 45
Male infertility, Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Chronic rhinitis OMIM:618801
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Bronchiectasis, T lymphocytopenia, Macrog... OMIM:242860
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Angina pectoris, Premature coronary artery atheroscleros... ORPHA:425
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... OMIM:242700
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Boutonneuse Fever
Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Cervical ... ORPHA:83313
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Skin rash, Ataxia ORPHA:220295
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Im... OMIM:618063
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Chops Syndrome
Splenomegaly, Cryptorchidism, Patent ductus arteriosus, High, narrow palate, Vesicoureteral reflu... OMIM:616368
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Neutropenia, Chronic otitis m... ORPHA:443811
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Persistence of primary teeth, Asthma, Recurrent pneumonia, Recurrent u... OMIM:619752
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-... OMIM:619652
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Microscopic Polyangiitis
Episcleritis, Gastrointestinal hemorrhage, Increased inflammatory response, Sinusitis, Pericardit... ORPHA:727
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Ataxia, Ketonuria, Dilated cardiomyopathy, Lacticaciduria,... OMIM:619167
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Proteinuria, Elevated hemog... OMIM:619127
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Splenomegaly, Hypogeusia, Low alkaline phosphatase, Decreased serum zinc, H... OMIM:201100
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Dental crowding, Decreased serum leptin, Dyspnea, Dental malocclusio... OMIM:614008
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Hepatoblastoma, Crypto... OMIM:130650
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Huntington Disease-Like 1
Abnormal posturing, Gait disturbance, Dysmetria, Gait ataxia ORPHA:157941
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... ORPHA:209919
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Ataxia, Peritonitis, Vasculiti... ORPHA:343
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer... OMIM:618500
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepa... ORPHA:541423
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Intestinal malrotation, Asplenia, Patent ductus arteriosus, Partial ano... OMIM:619657
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... ORPHA:564
Sporadic Infantile Bilateral Striatal Necrosis
Urinary incontinence, Recurrent upper respiratory tract infections, Gait ataxia, Titubation, Gait... ORPHA:225147
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B... OMIM:615518
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... OMIM:176670
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Normocytic anemia, Ataxia, Epista... ORPHA:33226
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Ataxia-Telangiectasia
Conjunctival telangiectasia, Sinusitis, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thy... OMIM:208900
Cornelia De Lange Syndrome 1
Ectopic kidney, High, narrow palate, Renal cyst, Downturned corners of mouth, Widely spaced teeth... OMIM:122470
Cirrhosis, Familial
Fulminant hepatitis, Jaundice, Micronodular cirrhosis, Biliary cirrhosis, Increased level of L-fu... OMIM:215600
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Orofaciodigital Syndrome Viii
High palate, Median cleft lip, Recurrent aspiration pneumonia, Cleft palate OMIM:300484
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Bilat... OMIM:306955
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Res... OMIM:614935
Infection-Related Hemolytic Uremic Syndrome
Anuria, Intestinal perforation, Hypocalcemia, Nephrotic range proteinuria, Acute colitis, Hyponat... ORPHA:544482
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Congestive heart failure, Emphysema, Pulmonary carcinoid tumor, Intracrania... ORPHA:363618
Cerebrotendinous Xanthomatosis
Abnormal circulating enzyme concentration or activity, Ataxia, Precocious atherosclerosis, Abnorm... ORPHA:909
Acute Disseminated Encephalomyelitis
Viral hepatitis, Respiratory failure requiring assisted ventilation, Ataxia, Herpes simplex encep... ORPHA:83597
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Ata... OMIM:615816
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc, Vasculitis, Skin rash OMIM:601979
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Autoimmune Disease, Susceptibility To, 1
Hashimoto thyroiditis OMIM:607836
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Myasthenia, Limb-Girdle, Autoimmune
Mildly elevated creatine kinase, Hashimoto thyroiditis, Thymoma OMIM:159400
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Asplenia, Cleft uppe... OMIM:273395
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Elevated circulating C-reactive protein concentration, Nonproduct... ORPHA:319213
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Bilateral trilobed lung, Ureteral duplication, Ureteral stenosis, Int... OMIM:270100
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er... ORPHA:447
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Hyp... OMIM:607944
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Hep... OMIM:614162
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Gingivitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemi... ORPHA:2968
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Atelectasis, Wheezing, Pneumothorax, ... ORPHA:70588
Sweeney-Cox Syndrome
Bilateral cryptorchidism, Asplenia, Patent ductus arteriosus, Velopharyngeal insufficiency, High ... OMIM:617746
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Conj... OMIM:617093
Dyskeratosis Congenita, Autosomal Dominant 1
Ataxia, Aplastic anemia, Carious teeth, Dyspnea, Thrombocytopenia, Hepatic necrosis, Leukopenia, ... OMIM:127550
Opitz Gbbb Syndrome
Bifid scrotum, High palate, Vesicoureteral reflux, Recurrent aspiration pneumonia, Enlarged ovari... ORPHA:2745
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Cleft lip, Cleft palate, Abdominal situs inversus, Pulmonic stenosis OMIM:619123
3P25.3 Microdeletion Syndrome
Thin upper lip vermilion, Ataxia, High, narrow palate, Patent ductus arteriosus, Deep philtrum, P... ORPHA:435638
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... ORPHA:98870
Yellow Fever
Anuria, Elevated circulating creatine kinase concentration, Internal hemorrhage, Neutrophilia, El... ORPHA:99829
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Tachycardia, Apnea, Episodic tachypnea, Hy... ORPHA:79264
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Urethral stricture, Abnormal oral mucosa morphology, Abnormal blood ion con... ORPHA:79404
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Renal insu... OMIM:614748
Degcags Syndrome
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High palate, Hepatomegaly, Hyposp... OMIM:619488
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... OMIM:600802
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Elevated circulating creatine kinase concentration, Abnormal internal carot... ORPHA:365
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vascu... OMIM:617718
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil... ORPHA:66529
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Proteinuria, Pan... OMIM:208500
Neuroleptic Malignant Syndrome
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp... ORPHA:94093
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ... ORPHA:99827
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Pneumonia, Eosinophilia, Erythematous oral mucosa, Recurrent pneumonia,... OMIM:158310
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Hepatomegaly, Ataxia, Seborrheic dermatitis, Splenomegaly, Micronodula... OMIM:301072
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Bronchiectasis, Chr... OMIM:616005
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Normocytic anemia, Tricuspid regurgitation, Decreased circulating... OMIM:300972
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis, Proteinur... ORPHA:1018
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Tachypnea, Abnormal blood ion concentr... ORPHA:173
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Tricuspid stenosis, Asplenia, Esophageal atresia, Patent ductu... OMIM:164280
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Loss of ambulation, Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kina... OMIM:253700
Roifman-Chitayat Syndrome
Arthritis, Thin lower lip vermilion, Pneumonia, Ectopic kidney OMIM:613328
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Neonatal respiratory distress, Ataxia, Inability to walk, Abnormal medu... ORPHA:79243
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Cryptorchidi... OMIM:617052
Cockayne Syndrome Type 3
Hepatomegaly, Renal hypoplasia, Cardiomyopathy, Urinary retention, Increased blood pressure, Vasc... ORPHA:90324
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Transient ischemic attack, Ataxia, Carotid artery stenosis, Urinary incontinence, Gait apraxia, D... OMIM:600142
Occipital Horn Syndrome
Recurrent urinary tract infections, Hiatus hernia, Venous insufficiency, High, narrow palate, Jau... ORPHA:198
Sandifer Syndrome
Hiatus hernia, Hematemesis, Esophagitis, Abnormal posturing, Anemia ORPHA:71272
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:242150
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Recurrent skin infections, Anal fissure, Abnormal circulating selenium conce... ORPHA:89842
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Splenomegaly, Thrombocytopenia, Stridor, Anemia, Cough, Bronchiolitis, Recur... OMIM:230900
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Renal... OMIM:229850
Gm1 Gangliosidosis Type 1
Gingival overgrowth, Hepatosplenomegaly, Cardiomyopathy, Macroglossia, Urinary glycosaminoglycan ... ORPHA:79255
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Hypertrophy of the urinary bladder, High palate, Recurrent aspiration... ORPHA:280633
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Hepatomegaly, Tricuspid regurgitation, Pneumonia, Reduced leukocyte ar... OMIM:253200
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Cystic Fibrosis
Elevated hepatic transaminase, Recurrent respiratory infections, Sinusitis, Absent vas deferens, ... ORPHA:586
Tay-Sachs Disease
Abnormal circulating enzyme concentration or activity, Increased serum beta-hexosaminidase, Preco... ORPHA:845
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia ORPHA:1203
Feingold Syndrome
Abnormality of the spleen, Patent ductus arteriosus, Esophageal atresia, Orofacial cleft, Annular... ORPHA:1305
Cowden Syndrome 7
Intestinal polyposis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditi... OMIM:616858
Heterotaxy, Visceral, 2, Autosomal
Intestinal malrotation, Asplenia, Abdominal situs inversus, Transposition of the great arteries, ... OMIM:605376
Cleft Velum
Recurrent otitis media, Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia ORPHA:99772
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Deep philtrum, Aspiration pneumonia, Vesicoureteral reflux, Hypothyroidism, Hypoventilatio... ORPHA:438213
Aceruloplasminemia
Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Ac... OMIM:604290
Benign Schwannoma
Intestinal polyposis, Abnormality of the liver, Abnormality of the adrenal glands, Abnormal parot... ORPHA:252164
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fancon... OMIM:557000
Floating-Harbor Syndrome
Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, Microdontia, Hypospadias, Persistence ... ORPHA:2044
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Orthostatic hypotension, Recurrent urinary tract infections, Ataxia, Head titubation,... ORPHA:99027
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop... OMIM:227646
Familial Benign Copper Deficiency
Decreased circulating copper concentration, Acne, Anemia, Deep philtrum ORPHA:1551
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Ataxia, Pancreatic fibrosis, Hypothyro... OMIM:616263
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency, Retinal arteriolar constric... OMIM:249660
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Dental crowding, Fusiform ascending tubular aorta... OMIM:617168
Floating-Harbor Syndrome
Thin upper lip vermilion, Hypospadias, Celiac disease, Cryptorchidism, Carious teeth, Glandular h... OMIM:136140
Mucopolysaccharidosis Type 3
Adenoiditis, Atrioventricular block, Otitis media, Aspiration pneumonia, Chronic otitis media, Lo... ORPHA:581
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion... OMIM:167800
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Diabetes mellitus, Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropat... OMIM:209010
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Hypothyroidism, Polycyt... ORPHA:116
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia, Dyspnea, Mitral regurgitation, Respiratory failure, Thick vermilion bord... OMIM:617809
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Otitis media, Vesicoureteral reflux, Hypospadias, Cryptorchidism, Patent ductus ... ORPHA:353281
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Cryptorchidism, Patent ductus a... ORPHA:1465
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Ataxia ORPHA:204
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... ORPHA:330021
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia, High palate, Recurrent a... OMIM:300472
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Intestinal perforation, Xerostomia, Gastrointestinal inflammation, Conjunct... ORPHA:95455
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Deep philtrum, Recurren... ORPHA:314655
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:617395
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm... ORPHA:435934
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Nonproductive cough, Abnormal EKG, Patent ductus arteriosus,... ORPHA:980
Infantile Neuroaxonal Dystrophy
Ataxia, Unsteady gait, Apneic episodes in infancy, Gait disturbance, Aspiration pneumonia, Increa... ORPHA:35069
Aorta Coarctation
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... ORPHA:1457
X-Linked Dystonia-Parkinsonism
Difficulty walking, Shuffling gait, Aspiration pneumonia, Protruding tongue ORPHA:53351
Plague
Respiratory distress, Chapped lip, Tachycardia, Hepatomegaly, Skin rash, Glossitis, Erythema nodo... ORPHA:707
Distal Deletion 12Q
Ectopic kidney, High, narrow palate, Biliary atresia, Vesicoureteral reflux, Micropenis, Esophage... ORPHA:96149
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Orofaciodigital Syndrome Ix
Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palate, High palat... OMIM:258865
Gastrocutaneous Syndrome
Peptic ulcer, Coronary artery atherosclerosis, Type II diabetes mellitus, Hiatus hernia ORPHA:2069
Trisomy 8P
Cryptorchidism, Fetal pyelectasis, Recurrent upper respiratory tract infections, Abnormal lung lo... ORPHA:264450
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Pancreatic fibrosis, Median cleft lip, Hamartoma of tongue, Intestinal m... OMIM:263520
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pneumonia, Thick lower lip vermilion, Respiratory insufficiency, High... ORPHA:2135
Jacobsen Syndrome
Smooth philtrum, Recurrent respiratory infections, Multicystic kidney dysplasia, Eczema, Intestin... ORPHA:2308
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatic hemangioma, Penile hypospadias, Recurrent as... ORPHA:73230
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... OMIM:154500
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Abnormal circulating enzyme concentration or activity, Recurrent urinary tr... ORPHA:309282
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hypothyroid... ORPHA:1606
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Allergic rhinitis, Eczema, Asthma, Patent ductus ar... OMIM:618162
Mowat-Wilson Syndrome
Bifid scrotum, Dental crowding, Urinary incontinence, Asplenia, Cleft hard palate, Widely spaced ... ORPHA:2152
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Nephrocalcinosis, Downturned c... ORPHA:79500
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Ataxia, Recurrent urinary tract infection... ORPHA:221139
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Mohr-Tranebjaerg Syndrome
Inability to walk, Shuffling gait, Aspiration pneumonia ORPHA:52368
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Dental crowding, Urinary incontinence, Asplenia, Cleft hard palate, Short philtrum... ORPHA:261537
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration, Abnormal intestine morphology ORPHA:209981
Lacrimoauriculodentodigital Syndrome 1
Renal agenesis, Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the paroti... OMIM:149730
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Glandular hypospadias, Abnormal circ... OMIM:620306
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Recurrent respiratory infections, Renal insufficiency, Apnea, Hypo... ORPHA:397715
Atelosteogenesis Type I
Malrotation of colon, Cleft palate, Multiple renal cysts, Pulmonary hypoplasia, Abnormal pancreat... ORPHA:1190
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Inability... ORPHA:70
Dystonia 1, Torsion, Autosomal Dominant
Inability to walk, Abnormal posturing OMIM:128100
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Hypospadias, Decreased response to growth hormone stimulation test, Con... ORPHA:444077
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, High palate, Otitis media, Vesicoureteral reflux, Aspiration, Hypospadias, Abnor... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, High palate, Otitis media, Vesicoureteral reflux, Aspiration, Hypospadias, Abnor... ORPHA:353277
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Premature coronar... ORPHA:140905
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Duplicated collecting system, Ataxia, Inability to walk, Abnormal morphology of the great vessels... ORPHA:488642
Marshall-Smith Syndrome
Irregular dentition, Apnea, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Short... OMIM:602535
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Amoebiasis Due To Free-Living Amoebae
Abnormality of taste sensation, Sinusitis, Ataxia, Pneumonia, Pustule, Respiratory tract infectio... ORPHA:68
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Gastrointestinal inflammation, Iron deficiency anemia, Urinary bladder sphinc... ORPHA:79408
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Dental crowding, Urinary incontinence, Asplenia, Cleft hard palate, Short philtrum... ORPHA:261552
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism, Orofacial cleft, Horseshoe kidney, High palate, Short philtrum, Microdo... ORPHA:221120
Schinzel-Giedion Syndrome
Respiratory distress, Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Short philt... ORPHA:798
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Cryptorchidism, Cleft palate, Pelvic kidney,... OMIM:247200
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Aspiration pneumonia, Long philtrum, Reduced circulating growth horm... OMIM:616430
Fontaine Progeroid Syndrome
Small scrotum, High, narrow palate, Anteriorly placed anus, Oligodontia, Microdontia, Neonatal de... OMIM:612289
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Anal stenosis,... OMIM:147920
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Jacobsen Syndrome
U-Shaped upper lip vermilion, Recurrent respiratory infections, Hypospadias, Cryptorchidism, Pylo... OMIM:147791
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Prominent scalp veins, Recurrent respiratory infections, Hypertriglyce... OMIM:264090
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,... ORPHA:454831
Lissencephaly Due To Lis1 Mutation
Dilation of Virchow-Robin spaces, Neonatal hyperbilirubinemia, Aspiration pneumonia ORPHA:95232
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Cleft lip, Renal cyst, Furrowed tongue, Hi... OMIM:616975
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Anemia, Seborrheic dermatitis OMIM:121270
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, High palate, Hyperechogenic pancreas, ... OMIM:617941
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Cryptorchidism, Supernumerary tooth, Telangiectasia, Anteriorly placed... OMIM:268400
Alobar Holoprosencephaly
Central apnea, Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimula... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimula... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimula... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimula... ORPHA:220386
Arboleda-Tham Syndrome
Respiratory distress, Bilateral cryptorchidism, Downturned corners of mouth, Conjunctivitis, Shor... OMIM:616268
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Cardiomyopathy, Steppage gait, Abnormal circulating creatine kinase concentration, Abnormal circu... ORPHA:521411
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Coronary artery atherosclerosis OMIM:144010
Unilateral Polymicrogyria
Apnea, Epistaxis, Pulmonary arteriovenous malformation, Stroke, Abnormal posturing ORPHA:268943
Slc39A8-Cdg
Sudden episodic apnea, Abnormal blood zinc concentration, Inability to walk, Abnormality of the l... ORPHA:468699
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Coronary artery atherosclerosis OMIM:143890
Zinc Deficiency, Transient Neonatal
Decreased serum zinc, Eczema OMIM:608118
Pmm2-Cdg
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Intracrania... ORPHA:79318
Hereditary Sensory And Autonomic Neuropathy Type 4
Anhidrosis, Fasciitis, Osteomyelitis, Chronic kidney disease, Alveolar ridge overgrowth, Hyperhid... ORPHA:642
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t... ORPHA:79138
Wrinkly Skin Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Carious teeth, Cryptorchidism, Pro... ORPHA:2834
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Urinary incontinence, Sinus bradycardia, Hypopnea, Restrictive ventilator... OMIM:619482
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Dental crowding, Hypercapnia, Respiratory insufficiency due to ... ORPHA:2020
Phacoanaphylactic Uveitis
Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Panuveitis, Posterior uveitis ORPHA:209959
Lafora Disease
Ataxia, Inability to walk, Gait disturbance, Hepatic failure, Recurrent aspiration pneumonia ORPHA:501
Yunis-Varon Syndrome
Thin upper lip vermilion, Absent nipple, Hypospadias, Premature loss of primary teeth, Cryptorchi... OMIM:216340

Histopathology

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

There is no histopathology data for Tk1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tk1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Tk1tm1Brd Tk1tm1Brd PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Tk1tm1brd PMC6459510

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Tk1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tk1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tk1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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