Gene: Vav2 MGI:102718

Gene Summary

Name:

vav 2 oncogene

Synonyms:

2810040F13Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased basophil cell number	Vav2^{em1(IMPC)Marc}	HOM	Early adult	5.66×10^-11
hyperactivity	Vav2^{em1(IMPC)Marc}	HOM	Early adult	2.82×10^-06
increased eosinophil cell number	Vav2^{em1(IMPC)Marc}	HOM	Early adult	1.02×10^-09
decreased heart left ventricle size	Vav2^{em1(IMPC)Marc}	HOM	Early adult	3.07×10^-05
thin ventricular wall	Vav2^{em1(IMPC)Marc}	HOM	Early adult	1.62×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Vav2 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.

Human diseases associated with Vav2 (0 diseases)
Human diseases predicted to be associated with Vav2 (1776 diseases)

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

The table below shows human diseases predicted to be associated to Vav2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Glaucoma, Primary Closed-Angle	Ocular hypertension, Anterior synechiae of the anterior chamber	OMIM:618880
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Ocular hypertension, Megalocornea	OMIM:617272
Eosinophilia, Familial	Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Abnor...	OMIM:309300
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Immunodeficiency 88	Eosinophilia	OMIM:619630
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Myeloproliferative ...	OMIM:607685
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Asymmetry of intr...	OMIM:177650
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Ocular h...	OMIM:613195
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria, Ocular hypertension	OMIM:156600
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c...	OMIM:615615
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Glaucoma 1, Primary Open Angle, C	Ocular hypertension	OMIM:601682
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Peters anomaly, Aniridia, Ant...	OMIM:610256
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Band keratopathy, Hypoplasia of the iris, Ocular anterior segment dysgenesis, Anterior synechiae ...	OMIM:614195
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Ocular...	OMIM:107250
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Microphthalmia, Isolated 6	Microcornea, Ocular hypertension	OMIM:613517
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Genetic Recurrent Myoglobinuria	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:99845
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul...	OMIM:619924
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ...	OMIM:618987
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	OMIM:103900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Hyperaldosteronism, Adr...	ORPHA:369929
Late-Onset Familial Hypoaldosteronism	Hypotension, Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, Elevate...	ORPHA:556037
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Increased LDL cholesterol concentration, Hepat...	ORPHA:470
Early-Onset Familial Hypoaldosteronism	Hypotension, Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, Elevate...	ORPHA:556030
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Mitral ...	ORPHA:730
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Familial Hyperaldosteronism Type Iii	Epistaxis, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Left ventricular hypertr...	ORPHA:251274
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Ventriculomegaly, Recurrent urinary tract infections, Lymphopeni...	OMIM:620210
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Nephrolith...	OMIM:615474
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Ocular hypertension, Iris coloboma, Peters anomaly	OMIM:610023
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Corticosterone Methyloxidase Type I Deficiency	Hypotension, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Hyperkale...	OMIM:203400
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Renal salt wasting, Hyper...	OMIM:264350
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiote...	OMIM:177735
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Schizophrenia 15	Hyperactivity	OMIM:613950
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:159
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Con...	ORPHA:90791
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre...	ORPHA:1501
Transcobalamin Deficiency	Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Decrea...	ORPHA:859
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Neovascular Glaucoma	Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio...	ORPHA:94058
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Acute Adrenal Insufficiency	Renal salt wasting, Hyperkalemia, Androgen insufficiency, Primary adrenal insufficiency, Renal in...	ORPHA:95409
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Stroke-like episode, Ragged-red muscle fibers, Myopathy, Hypertension, ...	OMIM:540000
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercal...	OMIM:613677
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Muscle fiber splitting, Cardiomyopathy, Extremely elevat...	ORPHA:171445
Weill-Marchesani Syndrome 3	Microspherophakia, Shallow anterior chamber, Ectopia lentis, Ocular hypertension	OMIM:614819
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Aapoaiv Amyloidosis	Chronic kidney disease, Sinus bradycardia, Glomerular sclerosis, Left bundle branch block, Abnorm...	ORPHA:439232
Congenital Primary Aphakia	Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm...	ORPHA:83461
Andersen-Tawil Syndrome	Renal hypoplasia, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular...	ORPHA:37553
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ...	OMIM:300400
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hypotension, Hyperaldosteronism, Increased uri...	OMIM:607364
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Secundum atrial septal defect, Decreased proportion of CD8-posit...	OMIM:611926
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspartate aminotransferas...	OMIM:619048
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Cholelithiasis, Recurrent tonsillitis, Abnormal circulating aldosterone, Incre...	ORPHA:171876
Hyperaldosteronism, Familial, Type Iv	Hyperaldosteronism, Elevated aldosterone:renin ratio, Hypertension	OMIM:617027
East Syndrome	Renal magnesium wasting, Abnormal urinary electrolyte concentration, Hypomagnesemia, Hyperaldoste...	ORPHA:199343
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Hematuria, Glomerulonephritis, Tubulointerstitial neph...	ORPHA:340
Sneddon Syndrome	Lymphopenia, Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Decreased circu...	OMIM:182410
Systemic Capillary Leak Syndrome	Hypotension, Oliguria, Renal insufficiency, Leukocytosis, Arrhythmia, Abnormal renal tubule morph...	ORPHA:188
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor...	ORPHA:75566
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Lcat Deficiency	Acute kidney injury, Premature coronary artery atherosclerosis, Decreased HDL cholesterol concent...	ORPHA:650
Familial Hypoaldosteronism	Hypotension, Adrenal insufficiency, Hyponatremia, Hypovolemia, Decreased urinary potassium, Decre...	ORPHA:427
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Immunodeficiency 44	Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated CSF neopte...	OMIM:616636
Trimethylaminuria	Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Endocardial fibrosis, Absence of lymph...	OMIM:235550
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Esophagitis, Eosinophilic, 2	Eosinophilia, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Dysphagia	OMIM:610247
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Renal salt wasting, Increased circulating renin level	OMIM:619406
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Increased urinary...	ORPHA:231625
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Cutaneous abs...	OMIM:618944
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina...	ORPHA:189427
Glaucoma 3, Primary Congenital, A	Buphthalmos, Ocular hypertension, Late onset congenital glaucoma	OMIM:231300
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Type I diabetes mellitus, Decreased circulating I...	OMIM:620430
Gaisböck Syndrome	Increased red blood cell count, Elevated plasma cell count, Hypertriglyceridemia, Peripheral arte...	ORPHA:90041
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Type I diabetes mellitus, Arterial stenosis, Cryptorchidism, Abnormal mitral valve m...	ORPHA:1192
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Renal insufficiency, Abnormality of circulating cortisol level, Decreased circu...	ORPHA:320
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno...	OMIM:607271
Myotonic Dystrophy 2	Sternocleidomastoid amyotrophy, Decreased circulating IgG level, Hypogonadism, Palpitations, Type...	OMIM:602668
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypertension, ...	OMIM:612780
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype...	ORPHA:276575
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Agammaglob...	OMIM:619705
Macrophthalmia, Colobomatous, With Microcornea	Microcornea, Chorioretinal coloboma, Flat cornea, Ocular hypertension, Shallow anterior chamber, ...	OMIM:602499
Acute Monoblastic/Monocytic Leukemia	Oliguria, Central hypothyroidism, Increased circulating lactate dehydrogenase concentration, Acut...	ORPHA:514
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom...	ORPHA:2260
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Redu...	OMIM:232220
Gitelman Syndrome	Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Hypomagnesemia, Palpitations, Rhab...	OMIM:263800
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Sepsis In Premature Infants	Hypotension, Oliguria, Increased circulating interleukin 6 concentration, Decreased liver functio...	ORPHA:90051
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232200
Glaucoma 1, Open Angle, F	Ocular hypertension	OMIM:603383
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Hyperglycorrhachia, Congestive heart failure, Hypopituitarism, Increased CSF lactate, ...	ORPHA:90065
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, H...	OMIM:174000
Fabry Disease	Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,...	OMIM:301500
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Familial Hyperaldosteronism Type I	Epistaxis, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronis...	ORPHA:403
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i...	OMIM:613501
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,...	ORPHA:860
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Lujo Hemorrhagic Fever	Hypotension, Elevated circulating hepatic transaminase concentration, Increased circulating lacta...	ORPHA:319213
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr...	ORPHA:206546
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype...	ORPHA:276580
Addison Disease	Adrenal calcification, Hypoparathyroidism, Renal salt wasting, Hyperkalemia, Thymoma, Androgen in...	ORPHA:85138
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles...	ORPHA:289548
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin...	OMIM:121300
Cardiomyopathy, Familial Restrictive, 1	Ventriculomegaly, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrop...	OMIM:115210
Lassa Fever	Shock, Jaundice, Oliguria, Increased circulating IgM level	ORPHA:99824
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm...	OMIM:617514
Familial Hyperaldosteronism Type Ii	Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulati...	ORPHA:404
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles...	ORPHA:168558
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Hypopituitarism, Increased circulating IgE level, Decreased circ...	ORPHA:98813
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Elevated circulating pa...	OMIM:613388
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga...	OMIM:612692
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Excessive insulin response to ...	ORPHA:276556
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating ...	ORPHA:231580
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Gitelman Syndrome	Type II diabetes mellitus, Rhabdomyolysis, Parathyroid adenoma, Urinary incontinence, Tubulointer...	ORPHA:358
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Organic aciduria, Cardiomyopathy, Supraventricular tachycardia, Myopathy, Elevated circulating cr...	OMIM:255100
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Hyperactivity	OMIM:615493
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Immunodeficiency 10	Decreased circulating IgG level, Recurrent urinary tract infections, Decreased circulating IgA le...	OMIM:612783
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Lateral ventricle dilatation, Hepatosplenomegaly, Hepatic...	OMIM:619487
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Aggressive behavior, Hyperactivity	ORPHA:356996
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Secondary hyperaldosteronism, Re...	ORPHA:90363
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conce...	OMIM:619386
Herpes Simplex Virus Stromal Keratitis	Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea...	ORPHA:137599
Hyperaldosteronism, Familial, Type Ii	Hyperaldosteronism, Hypertension, Hypokalemia	OMIM:605635
Glycogen Storage Disease 0, Muscle	Decreased muscle glycogen content, Cardiomyopathy, Stroke, Left atrial enlargement, Left ventricu...	OMIM:611556
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Hypertensive crisis, Acute kidney injury, Oliguria,...	ORPHA:544482
Kimura Disease	Eosinophilia	ORPHA:482
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Colchicine Poisoning	Hypotension, Oliguria, Cardiogenic shock, Congestive heart failure, Hypomagnesemia, Renal insuffi...	ORPHA:31824
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Oliguria, Epistaxis, Congestive heart failure, Renal ins...	ORPHA:727
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Renal...	OMIM:613090
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephro...	OMIM:601678
Traboulsi Syndrome	Cataract, Ectopia lentis, Ocular hypertension, Phakodonesis, Iris atrophy, Spherophakia, Anterior...	OMIM:601552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Ventriculomegaly, Left ventricular systolic dysfunction, Cryptorchidism, Elev...	OMIM:613156
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased...	OMIM:241200
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber	ORPHA:3214
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot...	ORPHA:329918
8p23.1 deletion syndrome	Abnormal heart morphology, Hyperactivity, Atrial septal defect, Atrioventricular canal defect	DECIPHER:39
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M...	OMIM:619281
Snakebite Envenomation	Epistaxis, Acute kidney injury, Hypotension, Cardiogenic shock, Hypopituitarism, Cerebral ischemi...	ORPHA:449285
Coronary Artery Disease, Autosomal Dominant, 1	Premature coronary artery atherosclerosis, Hypercholesterolemia, Hypertension, Myocardial infarct...	OMIM:608320
Preeclampsia/Eclampsia 1	Proteinuria, Elevated circulating hepatic transaminase concentration, Hypertension, Thrombocytopenia	OMIM:189800
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Atherosclerosis, Decreased glomer...	ORPHA:93598
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620126
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Cernunnos-Xlf Deficiency	Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin...	ORPHA:169079
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te...	ORPHA:324575
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra...	OMIM:241150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Pituitary Adenoma 1, Multiple Types	Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio...	OMIM:102200
Coronary Artery Disease, Autosomal Dominant 2	Premature coronary artery atherosclerosis, Increased LDL cholesterol concentration, Type II diabe...	OMIM:610947
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 33	Nephrotic syndrome, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Myop...	OMIM:617713
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Congenital Disorder Of Glycosylation, Type It	Hepatic steatosis, Rhabdomyolysis, Ventricular septal defect, Elevated circulating alanine aminot...	OMIM:614921
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Reduc...	OMIM:602522
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Left ventricular hypertrophy, Abnormal renal corti...	OMIM:616733
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Congestive heart fai...	ORPHA:73224
Diffuse Cutaneous Systemic Sclerosis	Hypertensive crisis, Oliguria, Xerostomia, Congestive heart failure, Renal insufficiency, Pulmona...	ORPHA:220393
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract, Ocu...	ORPHA:39044
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Combined Oxidative Phosphorylation Deficiency 30	Elevated gamma-glutamyltransferase level, Decreased liver function, Increased CSF lactate, Elevat...	OMIM:616974
Cardiogenic Shock	Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ...	ORPHA:97292
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co...	ORPHA:567544
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Myofibrillar Myopathy 10	Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac...	OMIM:619040
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo...	OMIM:619846
Wells Syndrome	Eosinophilia	ORPHA:901
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin lev...	ORPHA:231632
Phacoanaphylactic Uveitis	Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ...	ORPHA:209959
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase...	OMIM:300280
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Elevated jugular venou...	ORPHA:57777
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Severe B lymphocytopenia, Increased circulating IgE level, Lymphopeni...	OMIM:102700
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Reduced natu...	OMIM:308240
Orthostatic Hypotension 2	Anemia, Decreased glomerular filtration rate, Orthostatic hypotension	OMIM:618182
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Hypomagnesemia, Intestinal...	ORPHA:90362
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Spider hemangioma, Cyclic neutropenia, Decreased glomerular f...	OMIM:232240
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,...	ORPHA:505248
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Ventriculomegaly, Neutropenia	ORPHA:2643
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Skeletal muscle atrophy, Hypertrophic cardiomyopathy...	ORPHA:368
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Conjunctival...	ORPHA:280921
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Hypotension, Abnorma...	ORPHA:85445
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Tangier Disease	Distal amyotrophy, Atherosclerosis, Facial diplegia, Hypertriglyceridemia, Splenomegaly, Coronary...	OMIM:205400
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased circulating complement factor B concentration, Acute kidney injury, Anuria, Microangiop...	OMIM:235400
Atrial Fibrillation, Familial, 6	Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy...	OMIM:612201
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni...	ORPHA:731
Morbid Obesity And Spermatogenic Failure	Premature coronary artery atherosclerosis, Congestive heart failure, Decreased HDL cholesterol co...	OMIM:615703
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Increased circulating lactate dehydrogenase co...	OMIM:614034
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Ventricular hypertrophy, Hypotension...	OMIM:212138
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria, Hypertension	ORPHA:2820
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Eleva...	ORPHA:331206
Simple Cryoglobulinemia	Chronic lymphatic leukemia, Abnormality of the kidney, Nephrotic syndrome, Vasculitis, Gastrointe...	ORPHA:91139
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased urine alpha-ketoglutarate concentration, Elevated circulating tetradecanoylcarnitine co...	OMIM:619355
Distal Deletion 6P	Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho...	ORPHA:96125
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Skeletal muscle atrophy, Lower limb muscle weak...	OMIM:620632
Relapsing Fever	Epistaxis, Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increase...	ORPHA:91547
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Atrial flutter, Reduced left ventricular ejection fraction, Left atrial fibrosis, Left atrial enl...	OMIM:620734
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism...	ORPHA:89938
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Preeclampsia	Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated circulati...	ORPHA:275555
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Lymphopenia, Cryptorchidism, Elevated circulating alkaline phosphatase concentration, Atrial sept...	OMIM:620005
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Pancy...	OMIM:614700
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil...	OMIM:226990
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:601859
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal immunoglobulin level, Neutropenia, Nephrotic syndrome, Focal ...	OMIM:242900
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Adrenal insufficiency, Ventricular septal defect, Hydronephrosis, Pulmonic s...	ORPHA:251076
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Hematuria, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, Diffuse alveolar hemo...	ORPHA:99827
Porphyria Variegata	Chronic kidney disease, Proximal muscle weakness in upper limbs, Elevated circulating hepatic tra...	ORPHA:79473
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Leukocoria, Shallow anterior ...	OMIM:221900
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Abnormal lymphocyte physiology, Neut...	ORPHA:1830
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia,...	OMIM:162000
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hypotension, Abnorm...	ORPHA:542323
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Splen...	ORPHA:436159
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Hepatic failure, Oliguria, Hypotension, Decreased liver function, Abnormal p...	ORPHA:466650
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Limb muscle weakness, Abnormality of...	ORPHA:90064
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Yellow Fever	Pancreatic hyperplasia, Hyperbilirubinemia, Elevated circulating alanine aminotransferase concent...	ORPHA:99829
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Telangiectases of the cheeks, Decreased circulating total IgM	OMIM:615139
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Cholestasis, Pancytopenia, Elevated circulating alkalin...	OMIM:614576
Variegate Porphyria	Elevated urinary delta-aminolevulinic acid, Tachycardia, Increased urinary porphobilinogen, Porph...	OMIM:176200
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Mesangial Immune complex d...	OMIM:613496
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypertension, Renal salt wasting, Elevated circulating 21-deoxycortisol conc...	OMIM:201910
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Myopathy, Hypoplas...	OMIM:612782
Mogs-Cdg	Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Decreased c...	ORPHA:79330
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph...	ORPHA:263455
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Adren...	OMIM:278000
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus, Thrombocytopenia	OMIM:166990
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hyperhidrosis...	ORPHA:276608
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Potocki-Shaffer Syndrome	Nephroblastoma, Anemia, Hypothyroidism, Delayed puberty, Micropenis, Hypertension	ORPHA:52022
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Decreased response to growth hormone stimulation test, Decreased...	OMIM:615577
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi...	OMIM:214700
Birdshot Chorioretinopathy	Cataract, Choroidal neovascularization, Abnormal choroid morphology, Ocular hypertension, Abnorma...	ORPHA:179
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca...	ORPHA:3208
Paget Disease Of Bone 6	Nephrocalcinosis, Left ventricular hypertrophy, Elevated circulating alkaline phosphatase concent...	OMIM:616833
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Elbow contracture, Elevated circulating alkaline phosphatase concentration, Kne...	OMIM:618162
Leprechaunism	Nephrocalcinosis, Long penis, Central hypothyroidism, Skeletal muscle atrophy, Hyperaldosteronism...	ORPHA:508
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries, ...	ORPHA:280356
Fabry Disease	Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Nephrotic syndrome, Hypertrophic cardio...	ORPHA:324
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d...	OMIM:610476
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Nephrotic syndrome, Autoim...	OMIM:603909
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Iris ...	OMIM:612109
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Congenital Disorder Of Glycosylation, Type Iid	Decreased muscle mass, Elevated circulating aspartate aminotransferase concentration, Myopathy, E...	OMIM:607091
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Coronary artery atherosclerosis, Pancrea...	ORPHA:79084
Overlap Myositis	Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase concentration,...	ORPHA:206572
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidn...	OMIM:603278
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Dilated cardiomyopathy, Cardiomyopathy, Conges...	OMIM:242840
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph...	ORPHA:3392
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Aplasia/Hypopla...	ORPHA:100
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Increased CSF lactate, Ragged-red muscle fi...	OMIM:615418
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul...	ORPHA:93126
Nail-Patella-Like Renal Disease	Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria, Hypertension	ORPHA:2613
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co...	ORPHA:1686
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De...	ORPHA:90793
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Anuria, Dysfuncti...	ORPHA:90038
Lessel-Kubisch Syndrome	Hypogonadism, Renal hypoplasia, Renal insufficiency, Hypertension	OMIM:618681
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, Nephrocalcinosis, Abnormality of the urinary system, Restrictive cardiomyopat...	ORPHA:369837
Pheochromocytoma/Paraganglioma Syndrome 1	Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti...	OMIM:168000
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Ocular hypertension, Megalocornea, Astigmatism, Corneal ...	ORPHA:566
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Abnormal circulating I...	OMIM:620376
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy, Increased CSF la...	OMIM:614458
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Ventriculomegaly, Lateral ventricle dilatation, Decreased glomerular filt...	ORPHA:488627
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef...	OMIM:613876
Immunodeficiency 96	Decreased circulating IgG level, Multicystic kidney dysplasia, Increased mean corpuscular volume,...	OMIM:619774
Immunodeficiency 48	Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation...	OMIM:269840
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A...	ORPHA:263479
Roifman Syndrome	Noncompaction cardiomyopathy, Eosinophilia, Splenomegaly, Ventricular septal defect	OMIM:616651
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Elevated circulating alkaline phosphatase concentration, Rhabdomyolysis, Myogl...	ORPHA:94093
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology	ORPHA:3165
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:613944
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Muscular dystrophy, Elevated circulating creatine kinase concentration, Left ve...	OMIM:613153
Fibronectin Glomerulopathy	Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hype...	ORPHA:84090
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula...	OMIM:613874
Autosomal Dominant Progressive External Ophthalmoplegia	Limb muscle weakness, Myopathy, Arrhythmia, Hypomimic face, Quadriceps muscle weakness, Goiter, A...	ORPHA:254892
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscle weakness, Ch...	ORPHA:746
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Dilation of Virchow-Robin spaces, Transient ischemic attack, Stroke, Lacunar stroke, Hypertension	OMIM:616779
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Hepatosplenomegaly, Pancytopenia, Hepatomegaly, Elevated circulating C-reactive prot...	OMIM:615688
Pparg-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Prominent veins on trunk, Hepatic steatosis, Myopathy, Polyc...	ORPHA:79083
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Decreased lymphocyte proliferation...	OMIM:619313
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ...	OMIM:105200
Hereditary Coproporphyria	Nephropathy, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Da...	ORPHA:79273
Agammaglobulinemia, X-Linked	Cor pulmonale, Decreased circulating IgG level, Recurrent urinary tract infections, Hepatocellula...	OMIM:300755
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular sept...	OMIM:601005
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ar...	ORPHA:3287
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Normocytic anemia, Sterile pyuria, Beta 2-microglobulinuria, Elevated circulating ...	ORPHA:91500
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Podocyte foot ...	OMIM:617006
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Pituitary Gigantism	Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth...	ORPHA:99725
Mitochondrial Complex I Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Ventriculomegaly, Left ventricular hypertrophy, Skeletal muscle atrophy	OMIM:618228
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Pheochromocytoma/Paraganglioma Syndrome 3	Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Palpitatio...	OMIM:605373
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur...	ORPHA:335
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Macroglossia, Increased circulating lactate dehydrogenase concentration, Oligosacchariduria, Hype...	ORPHA:308552
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia	OMIM:615387
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Second degree atrioventricular block, Increased mean corpuscular volume, Decreas...	OMIM:617021
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Lipodystrophy, Familial Partial, Type 6	Muscular dystrophy, Skeletal muscle atrophy, Abnormal circulating lipid concentration, Lower limb...	OMIM:615980
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos...	OMIM:615758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Auto...	OMIM:616100
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Cinca Syndrome	Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis	OMIM:607115
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Renal insufficiency, Abnormal aortic morphology, Hyperuricemia, Arrhythmia, Hyper...	ORPHA:3222
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Cutaneous abscess, Eosinophilia, Atrial septal defect, Sterile abscess, Pulmonic stenosis	OMIM:618282
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Micrope...	OMIM:613870
Alkaptonuria	Aortic valve calcification, Elevated urinary homogentisic acid, Decreased glomerular filtration r...	OMIM:203500
Axenfeld-Rieger Syndrome, Type 3	Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ...	OMIM:602482
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Hyperalaninemia...	OMIM:614654
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Elevated gamma-glutamyltransferase level, Gastrointestinal hemorrhage, Normocytic an...	ORPHA:247691
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171420
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Decreased muscle mass...	ORPHA:263297
Pituitary Hormone Deficiency, Combined, 4	Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism	OMIM:262700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Hepatosplenomegaly, Eosinophilia, Anorexia, Decreased proportion of CD3-positive T c...	ORPHA:169160
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:616878
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Eosinophilia	OMIM:620532
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Increased urinary 11-deoxycorticosterone level, Precocious puberty, Long pe...	ORPHA:90795
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Bacterial endocarditis, Oliguria, Congestive heart failure, Stroke, Heart m...	ORPHA:1054
Double Outlet Right Ventricle	Hypoplastic left heart, Pulmonary artery atresia, Aplasia/Hypoplasia of the thymus, Tetralogy of ...	ORPHA:3426
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin...	OMIM:613095
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Reni Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogo...	OMIM:617575
Acquired Generalized Lipodystrophy	Abnormality of complement system, Insulin-resistant diabetes mellitus, Cardiomyopathy, Abnormal c...	ORPHA:79086
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Unilateral renal agenesis, Decreased lymphocyte proliferation in response to mitogen, Arteria lus...	ORPHA:221139
Eosinophilic Gastroenteritis	Anemia, Eosinophilia, Dysphagia, Leukocytosis	ORPHA:2070
Roifman Syndrome	Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hyperechogenic kidneys, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperur...	OMIM:613845
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ...	ORPHA:100024
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P...	OMIM:618886
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At...	ORPHA:3384
1Q21.1 Microduplication Syndrome	Hypospadias, Tetralogy of Fallot, Cryptorchidism, Hydrocephalus, Arthrogryposis multiplex congenita	ORPHA:250994
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio...	OMIM:611705
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Trapezius muscle aplasia, Hydrocephalus	OMIM:600257
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Hypomethioninemia, Hematuria, Neutropenia, Hepatomegaly, Tachycardia, Methylmalonic ...	OMIM:277400
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Anem...	OMIM:611489
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Lympho...	ORPHA:277
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature coronary artery...	OMIM:300845
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Selective Igm Deficiency

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us