Gene Summary

Name:
vav 2 oncogene
Synonyms:
2810040F13Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Vav2em1(IMPC)Marc HOM Early adult 2.82×10-06
increased eosinophil cell number Vav2em1(IMPC)Marc HOM   Early adult 1.02×10-09
thin ventricular wall Vav2em1(IMPC)Marc HOM   Early adult 1.62×10-05
increased basophil cell number Vav2em1(IMPC)Marc HOM Early adult 5.66×10-11
decreased heart left ventricle size Vav2em1(IMPC)Marc HOM   Early adult 3.07×10-05

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Ocular hypertension OMIM:618880
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Glaucoma 3, Primary Congenital, E
Megalocornea, Ocular hypertension OMIM:617272
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia OMIM:131400
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Ectopia lentis, Ocular hypertension OMIM:613195
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Immunodeficiency 88
Eosinophilia OMIM:619630
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia, Endocardial ... OMIM:607685
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Exfoliation Syndrome
Lens subluxation, Anisocoria, Asymmetry of intraocular pressure, Mydriasis, Pseudoexfoliation, Ca... OMIM:177650
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle, Ocular hypertension OMIM:156600
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Microphthalmia, Isolated 6
Microcornea, Ocular hypertension OMIM:613517
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Anterior Segment Dysgenesis 1
Ocular hypertension, Posterior polar cataract, Opacification of the corneal stroma, Microcornea, ... OMIM:107250
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... OMIM:618987
Glaucoma 1, Primary Open Angle, C
Ocular hypertension OMIM:601682
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Ocular hypertension, Microcornea, Peters anomaly, Cataract, ... OMIM:610256
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated... ORPHA:85450
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Anterior Segment Dysgenesis 7
Ocular hypertension, Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Scle... OMIM:269400
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Elevated aldolase level, Type 2 muscle fiber a... ORPHA:99845
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Hypokalemia, Intracranial hemorrhage, Ventricular septal defect, Adrenal hyperpl... ORPHA:369929
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619924
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... ORPHA:556037
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... ORPHA:556030
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circula... OMIM:103900
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... ORPHA:470
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Orthostatic hypotension, Increased circulating 18-hydrox... OMIM:610600
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Decreased glomerular filtration rate, Hematuria, Enlarged ... ORPHA:730
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Familial Hyperaldosteronism Type Iii
Hypokalemia, Left ventricular hypertrophy, Intracranial hemorrhage, Epistaxis, Hypercalciuria, Ad... ORPHA:251274
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Ocular hypertension OMIM:610023
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... OMIM:617713
Neovascular Glaucoma
Ocular hypertension, Corneal stromal edema, Abnormal anterior chamber morphology, Abnormal uvea m... ORPHA:94058
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Ocular hypertension OMIM:602499
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis, Ocular hypertension OMIM:614819
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level, Hypotension, Hyponatr... OMIM:203400
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hyperammonemia, Elevated creatine... ORPHA:159
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Abnormal enzyme/coenzyme activity, Macroscopic ... ORPHA:976
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypokalemia, Stroke, Left ventricular hypertrophy, Abnor... ORPHA:320
Acute Adrenal Insufficiency
Stroke, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating reni... ORPHA:95409
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Hypo... OMIM:177735
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Methylmalonic acid... ORPHA:859
Immunodeficiency 50
Neutropenia, Decreased circulating antibody level, Lymphopenia OMIM:300988
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hy... OMIM:601198
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypotension, Hyponatremia, Pseudohypoal... OMIM:264350
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Stroke-like episode, Hyper... ORPHA:563
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hy... OMIM:613677
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Foam cells, Decreased proportion ... OMIM:619802
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, Elevated circulating... OMIM:619048
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... ORPHA:189427
Andersen-Tawil Syndrome
Renal tubular dysfunction, Torsade de pointes, Abnormal T-wave, Premature ventricular contraction... ORPHA:37553
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Hematuria, Elevated circulating creatinine concentr... ORPHA:340
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Elevated circulating crea... ORPHA:439232
Familial Hypoaldosteronism
Adrenal insufficiency, Decreased circulating aldosterone level, Proximal renal tubular acidosis, ... ORPHA:427
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Lcat Deficiency
Premature coronary artery atherosclerosis, Decreased glomerular filtration rate, Decreased circul... ORPHA:650
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l... OMIM:618944
Hyperlysinemia, Type I
Anemia, Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula... OMIM:300400
Sneddon Syndrome
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Lymphopenia, Decreased circulating total IgM,... OMIM:182410
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Hypocal... OMIM:607364
East Syndrome
Hypomagnesemia, Hypokalemia, Abnormal urinary electrolyte concentration, Increased circulating re... ORPHA:199343
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Hypovolemic shock, Recurrent tonsillitis, Glucocortocoid-insensitive primary hype... ORPHA:171876
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Decreased circulating IgG level, Tricuspid regurgitation, Decreas... OMIM:619705
Trimethylaminuria
Splenomegaly, Tachycardia, Neutropenia, Trimethylaminuria, Hypertension, Anemia OMIM:602079
Systemic Capillary Leak Syndrome
Pancreatitis, Leukocytosis, Abnormal renal tubule morphology, Arrhythmia, Myocarditis, Hypotensio... ORPHA:188
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Glaucoma 3, Primary Congenital, A
Buphthalmos, Late onset congenital glaucoma, Ocular hypertension OMIM:231300
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... OMIM:616636
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Endocardial fibrosis, Absence of lymph... OMIM:235550
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Abnormal T-wave, Neoplasm of the adrenal gland, Increased urinary potassium, Increas... ORPHA:231625
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Oligomeganephronia
Secundum atrial septal defect, Renal tubular atrophy, Decreased glomerular filtration rate, Pulmo... ORPHA:2260
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Secundum atrial septal defect, ... OMIM:611926
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Nuclear cataract, Posterior subcapsular cataract, Oc... ORPHA:280914
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Nocturia, Palpitations, Increased circulati... OMIM:263800
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... ORPHA:514
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276575
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Gaisböck Syndrome
Angina pectoris, Stroke, Increased circulating renin level, Myocardial infarction, Hyperuricemia,... ORPHA:90041
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Nephrotic syndrome, Anemia, Nephropathy, Cerebral artery athero... ORPHA:1192
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Decreased liver function, Elevated circulating... ORPHA:90051
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Addison Disease
Thymoma, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating ren... ORPHA:85138
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Cerebral hemorrhage, Hyperglycorrhachia, ST segment depress... ORPHA:90065
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Elevated circulating creatine kinase concentration, Organic aciduri... OMIM:255100
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:607271
Glaucoma 1, Open Angle, F
Ocular hypertension OMIM:603383
Myotonic Dystrophy 2
Type II diabetes mellitus, Decreased circulating IgG level, Premature ventricular contraction, Ty... OMIM:602668
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Familial Hyperaldosteronism Type I
Hypokalemia, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertensi... ORPHA:403
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Anemia, Impaired renal uric acid cle... OMIM:174000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276580
Maternally-Inherited Diabetes And Deafness
Type II diabetes mellitus, Abnormal circulating lipid concentration, Arrhythmia, Proteinuria, Ren... ORPHA:225
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Ventriculomegaly,... OMIM:115210
Familial Hyperaldosteronism Type Ii
Hypokalemia, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertensi... ORPHA:404
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
Preeclampsia
Chronic kidney disease, Abnormality of the hepatic vasculature, Abnormality of the kidney, Elevat... ORPHA:275555
Halothane Hepatitis
Eosinophilia OMIM:234350
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... ORPHA:2442
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukocytosis, Leukopenia, Ful... ORPHA:319213
Lassa Fever
Oliguria, Shock, Jaundice, Increased circulating IgM level ORPHA:99824
Gitelman Syndrome
Graves disease, Type I diabetes mellitus, Proteinuria, Primary hyperaldosteronism, Renal potassiu... ORPHA:358
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Decreased serum complement C3, Myocardial infarction,... ORPHA:54370
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... OMIM:602522
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypertrophic cardiomyopathy, Excessive insulin respo... ORPHA:276556
Fabry Disease
Angina pectoris, Anemia, Left ventricular hypertrophy, Arrhythmia, Hypohidrosis, Myocardial infar... OMIM:301500
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Elevated circulating creatine kinase concentr... OMIM:619386
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Tachycardia, Increased urinary porphobilinogen, Elevated urinary delt... OMIM:121300
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Increased urinary potassium, Palpitations, Adrenal hyperplasia, Decreased circulatin... ORPHA:231580
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Hypocalcemia, Pancreatitis, Nephrotic range pr... ORPHA:544482
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Nephrolithiasis, Hypokalemia, Left ventricular hypertrophy, Ventricular septal defect, Biventricu... OMIM:615474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Micropenis, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Macro... OMIM:613156
Eosinophilopenia
Decreased eosinophil count OMIM:131430
8p23.1 deletion syndrome
Abnormal heart morphology, Atrioventricular canal defect, Hyperactivity, Atrial septal defect DECIPHER:39
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Pericarditis, Stage 5 chronic ... OMIM:619487
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Intestinal bleeding, Reduced circulating transferrin concentrati... ORPHA:90363
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Hypovolemia, Arrhythmi... ORPHA:31824
Kimura Disease
Eosinophilia ORPHA:482
Glycogen Storage Disease 0, Muscle
Stroke, Left ventricular hypertrophy, Decreased muscle glycogen content, Left atrial enlargement,... OMIM:611556
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Ovarian cyst, Abnormal response to ACTH stimulation test, I... ORPHA:90793
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... OMIM:613090
Microscopic Polyangiitis
Pancreatitis, Peritonitis, Arrhythmia, Hematuria, Vasculitis, Oliguria, Renal insufficiency, Glom... ORPHA:727
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Increa... OMIM:601678
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Spherophakia, Shallow anterior chamber, Ocular hypertension, Spontaneous conjunctival filtering b... OMIM:601552
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Increa... OMIM:241200
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Renal potassium wasting, Increased circulat... OMIM:612780
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia, Proteinuria, Elevated hepatic transaminase OMIM:189800
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea ORPHA:3214
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Decreased serum complement C3, ... OMIM:612925
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegal... OMIM:613327
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... ORPHA:329918
Primary Hyperoxaluria Type 1
Nephrolithiasis, Dysuria, Stroke, Decreased glomerular filtration rate, Recurrent urinary tract i... ORPHA:93598
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Hepatomegal... OMIM:615559
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess, Renal salt wasting OMIM:613743
Snakebite Envenomation
Muscle fiber necrosis, Stroke, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotensi... ORPHA:449285
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Decreased serum complement C3, ... OMIM:612922
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased circulating renin level, Proximal tubulo... OMIM:241150
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Stroke, Tendon rupture, Atrial arrhy... ORPHA:85451
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Sudden cardiac death, Elevated circulating aspartate aminotransferase concentration... OMIM:614921
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:324575
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Renal dysplasia, Abnormal renal corticomedulla... OMIM:616733
Uveal Melanoma
Inferior lens subluxation, Iris melanoma, Zonular cataract, Ciliary body melanoma, Ocular hyperte... ORPHA:39044
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hepatic ... ORPHA:73224
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Precocious puberty, Hypokalemia, Decreased circulating cortis... ORPHA:90795
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Hypersplenism, Bone marrow hypocellula... ORPHA:3261
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Increased CSF lactate, Left ventricular hypertrophy, Elevated hepatic t... OMIM:616974
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Decreased serum complement C3, Complement deficiency, Decreased serum complem... ORPHA:567544
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Hepatic cysts, Renal insufficiency, Hypertension, Stage 5 c... OMIM:618061
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Flexion contracture, Xerostomia, Oliguria, Renal insufficiency, Hyper... ORPHA:220393
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Elevated circulating cr... ORPHA:86812
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarction, Hypercholester... OMIM:610947
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Myofibrillar Myopathy 10
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Elevat... OMIM:619040
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619846
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... OMIM:614034
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... OMIM:615285
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Decreased serum complement factor H, Microangiopathic hemolytic anemia, Hyperlipidemia, Decreased... OMIM:235400
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Ventriculomegaly, Neutropenia ORPHA:2643
Simple Cryoglobulinemia
Stroke, Complement deficiency, Monoclonal elevation of circulating IgA, Myocardial infarction, Pr... ORPHA:91139
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus, Heparan sulfate excretion in urine, Enlarged kidney, Thrombocytopenia, Proteinuria... ORPHA:505248
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Ovarian neoplasm, Renal cortical adenoma, Decreased circulating renin level, Epistax... ORPHA:231632
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Glycogen accumulation in muscle fiber lysosomes, Recurrent myoglobinuria, Chronic kid... ORPHA:368
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Gastrointestinal hemorrhage, Ja... ORPHA:731
Orthostatic Hypotension 2
Orthostatic hypotension, Anemia, Decreased glomerular filtration rate OMIM:618182
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Premature coronary artery atherosclerosis, Increased LDL cholesterol c... OMIM:615703
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Hyponatremia, Medullary... OMIM:300971
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Wells Syndrome
Eosinophilia ORPHA:901
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Ocular hypertension, Co... ORPHA:209959
Idiopathic Panuveitis
Ocular hypertension, Cataract, Choroidal neovascularization, Posterior synechiae of the anterior ... ORPHA:280921
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Hyper... OMIM:601894
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... ORPHA:331206
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... ORPHA:96125
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Hypomagnesemia, Decreased circulating IgG level, Hypocalcemia, H... ORPHA:90362
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Liddle Syndrome 1
Decreased circulating aldosterone level, Hypokalemia, Renal insufficiency, Decreased circulating ... OMIM:177200
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... OMIM:102200
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:605115
Crimean-Congo Hemorrhagic Fever
Melena, Hepatomegaly, Subdural hemorrhage, Hemoperitoneum, Neutrophilia, Hemothorax, Hepatic fail... ORPHA:99827
Aa Amyloidosis
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of t... ORPHA:85445
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Vici Syndrome
Decreased circulating IgG level, Left ventricular hypertrophy, Penile hypospadias, Decreased T ce... OMIM:242840
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Elevated circulating alkaline phosphatase concentration, Sever... OMIM:620005
Bartter Syndrome Type 4
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Impaired renal concentrating abilit... ORPHA:89938
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Cirrhotic Cardiomyopathy
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Abn... ORPHA:57777
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Jaundice, Abno... ORPHA:91547
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Ketonuria, 3-hydroxydicarboxylic aciduria, Hep... OMIM:619355
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:601859
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... OMIM:610163
Congenital Pulmonary Veins Atresia Or Stenosis
Abnormal cardiac septum morphology, Hypertension ORPHA:3188
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Elevated circulating C-reactive protein concentrati... OMIM:308240
Yellow Fever
Supraventricular arrhythmia, Neutrophilia, Pancreatic hyperplasia, Elevated circulating aspartate... ORPHA:99829
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Hyperbil... ORPHA:542323
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... OMIM:221900
Exercise-Induced Malignant Hyperthermia
Decreased liver function, Hypocalcemia, Abnormal pulse pressure, Abnormal T-wave, ST segment depr... ORPHA:466650
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Stroke, Leukocytosis, Absent ankle pulse, Myocardial infarction, Li... ORPHA:90064
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:614700
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Decreased glomerular filtrati... OMIM:232240
8P23.1 Duplication Syndrome
Adrenal insufficiency, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Hydrone... ORPHA:251076
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Diffuse mesangial sclerosis, Aplasia ... OMIM:102700
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... OMIM:608758
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... OMIM:162000
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Impaired T ... OMIM:614576
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Stroke, Impaired T cell function, Abnormal proportion of naive CD4 T cells, Protein... ORPHA:1830
Variegate Porphyria
Porphyrinuria, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Tac... OMIM:176200
Porphyria Variegata
Chronic kidney disease, Inappropriate antidiuretic hormone secretion, Abnormal enzyme/coenzyme ac... ORPHA:79473
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine ki... OMIM:212138
Birdshot Chorioretinopathy
Ocular hypertension, Abnormal chorioretinal morphology, Abnormal choroid morphology, Cataract, Ch... ORPHA:179
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Hypertension, A... OMIM:603278
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Telangiectases of the cheeks, Decreased circulating total IgM OMIM:615139
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Potocki-Shaffer Syndrome
Micropenis, Nephroblastoma, Hypothyroidism, Delayed puberty, Hypertension, Anemia ORPHA:52022
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... OMIM:300972
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... OMIM:612201
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Central adrenal insufficiency, ... OMIM:615577
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Atrial fib... OMIM:614954
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... OMIM:161900
Paget Disease Of Bone 6
Coronary artery atherosclerosis, Left ventricular hypertrophy, Nephrocalcinosis, Elevated circula... OMIM:616833
Paragangliomas 6
Hypertension, Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Left ventricular hypertrophy, Bradycardia OMIM:614654
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:618394
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypokalemia, Hyperte... OMIM:202010
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hematuria, Elevated circulating... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hematuria, Elevated circulating... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hematuria, Elevated circulating... OMIM:612926
Schimke Immunoosseous Dysplasia
Stroke, Proteinuria, Pancytopenia, Transient ischemic attack, Abnormal T cell morphology, Bilater... OMIM:242900
Mogs-Cdg
Hydrocele testis, Decreased circulating IgA level, Atrial septal defect, Decreased circulating Ig... ORPHA:79330
Overlap Myositis
Abnormal circulating lipid concentration, Raynaud phenomenon, Abnormality of the kidney, Leukopen... ORPHA:206572
Leprechaunism
Hyperinsulinemia, Hypokalemia, Hepatomegaly, Increased circulating renin level, Enlarged kidney, ... ORPHA:508
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia, Hyperten... OMIM:218030
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Thrombocytopenia OMIM:166990
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Calf muscle hypertrophy, Insulin-resistant diabetes mellitus at puberty, Abnorm... ORPHA:280356
Oculoauricular Syndrome
Microphakia, Ocular hypertension, Chorioretinal atrophy, Posterior embryotoxon, Microcornea, Iris... OMIM:612109
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Decreased serum creatinine, Hypernatriuria, Hyponatremia, Decre... OMIM:300539
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619510
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tachycardia, Pancreatic islet-cell hyperplasia, ... ORPHA:276608
Pauci-Immune Glomerulonephritis
Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hema... ORPHA:93126
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Hematuria, Abnormal myocardium morphology, Proteinur... ORPHA:324
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Congenital Microcoria
Hypoplastic iris stroma, Nuclear cataract, Ocular hypertension, Corneal stromal edema, Megalocorn... ORPHA:566
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... ORPHA:437572
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Increased circulating brain natriuretic peptide concentration, Left... OMIM:601494
Ataxia-Telangiectasia
Telangiectasia of the skin, Type II diabetes mellitus, Mucosal telangiectasiae, Lymphopenia, Elev... ORPHA:100
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Hypospadias, Left ventricular hypertrophy, Camptodactyly, Renal insufficiency, Hydronephr... OMIM:611209
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hypokalemia, Pancreatitis, Leukocytosis, Hemoglobinuria, Perit... ORPHA:90038
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Stroke, Tricuspid regurgitation, Left ventricular hypertrophy, Atr... OMIM:614022
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Increased CSF lactate, Left ventricular hypertrophy, EMG: myopathic abnormalities, Elevated circu... OMIM:615418
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Decreased circulating IgA level, Precocious puberty, Atrial septal defect, Co... ORPHA:369837
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... ORPHA:2041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Lessel-Kubisch Syndrome
Hypertension, Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria ORPHA:2613
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Nephrotic syndrome, Splenomegaly, Fol... OMIM:603909
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Tularemia
Increased circulating antibody level, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, A... ORPHA:3392
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Cerebral vasculitis, Decreased circulating total IgM, Eosinophilia, Subarachnoid hemorrhage, Incr... OMIM:243700
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy, Increased CSF la... OMIM:614458
Roifman Syndrome
Ventricular septal defect, Eosinophilia, Noncompaction cardiomyopathy, Splenomegaly OMIM:616651
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Polycystic ovaries, Diabetes mellitus, Coronary art... ORPHA:79084
Hereditary Coproporphyria
Dark urine, Proximal muscle weakness in lower limbs, Increased urinary porphobilinogen, Nephropat... ORPHA:79273
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... OMIM:618108
Isolated Succinate-Coq Reductase Deficiency
Abnormal left ventricular function, Left ventricular hypertrophy, Skeletal myopathy, Distal amyot... ORPHA:3208
Pituitary Gigantism
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:99725
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Lateral ventric... ORPHA:488627
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Hyperuricemia, Polycystic ovaries, Splenomegaly, Cirrhosis, Abnormali... ORPHA:79083
Neuroleptic Malignant Syndrome
Elevated circulating alkaline phosphatase concentration, Proteinuria, Hyperuricemia, Hyperhidrosi... ORPHA:94093
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia, Tricuspid regurgitation, Left ventricular hypertrophy, Mitral r... ORPHA:746
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Left ventricular hypertrophy, Muscular dystrophy, Elevated circulating creatine ki... OMIM:613153
Primary Pigmented Nodular Adrenocortical Disease
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... ORPHA:189439
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Tangier Disease
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Decreased HDL choleste... OMIM:205400
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Quadriceps muscle weakness, Reduced left ventricular ejection fraction, Limb mus... ORPHA:254892
Takayasu Arteritis
Hypertrophic cardiomyopathy, Anemia, Abnormal aortic valve morphology, Vasculitis, Cerebral ische... ORPHA:3287
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Muscular dystrophy, Elevated circulatin... OMIM:615980
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Prostatitis, Decreased circulating IgG level, Complete or near-c... OMIM:300755
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Paragangliomas 3
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:605373
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:613944
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Fibronectin Glomerulopathy
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Renal insuffic... ORPHA:84090
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... OMIM:613874
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Stroke, Hepatomegaly, Type I diabetes mell... OMIM:615688
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Abnormality of humora... ORPHA:277
Liddle Syndrome 2
Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia, Hyperten... OMIM:618114
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Renal salt wasting OMIM:201910
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Paragangliomas 1
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:168000
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Stroke, Lacunar stroke, Hypertension, Transient ischemic attack, Dilation of Virchow-Robin spaces OMIM:616779
Alkaptonuria
Nephrolithiasis, Aortic valve calcification, Decreased glomerular filtration rate, Mitral valve c... OMIM:203500
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot process effacem... OMIM:617006
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Lymphopenia, Sple... OMIM:616100
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi... OMIM:613496
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... OMIM:603965
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Cerebral hemorrhage, Decreased circulating total IgM, Hepatosple... OMIM:301081
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio... OMIM:616818
Congenital Fibrinogen Deficiency
Micropenis, Right ventricular hypertrophy, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... ORPHA:335
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Oligosacchariduria, Macroglossia, Left ventricular outflow tract obstruction, Abnor... ORPHA:308552
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Pheochromocytoma, Tachycardia, Episodic hyp... OMIM:171420
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Hyperur... OMIM:203800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Arrhythmia, Thrombocytopenia, Ventricular septal defect, Patent ductus ... OMIM:617021
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating ferritin concen... OMIM:619313
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Renal insufficiency, Hyperuricemia, Abnormal aortic morphology, Hypertension, Cardiom... ORPHA:3222
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619752
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Renal lymphocytic tubulitis, Vitreous hemorrhage, Elevated ... ORPHA:91500
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Type 2 muscle fiber atrophy, Polyuria, Leukopenia, Hypere... OMIM:613845
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypothyroidism OMIM:262700
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Flexion contracture, Micropenis, Tachycardia, Ventricular septal defect, Pa... OMIM:613870
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Cinca Syndrome
Eosinophilia, Anemia, Leukocytosis, Hepatosplenomegaly OMIM:607115
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Hypocalcemia, Hypoplastic left heart, Pulmonic... ORPHA:3426
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria,... OMIM:105200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Torsade de pointes, Ketonuria, Hyperammonemia, ... OMIM:616878
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... ORPHA:100024
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Atrial septal defect, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Jaundice, Elev... ORPHA:26793
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... OMIM:602482
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment elevati... ORPHA:263297
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Elevated circulating alkaline phosphatase concentration, ... ORPHA:247691
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Thyroid carcinoma, Raynaud phenomenon, Decr... ORPHA:331235
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Cerebral hemorrhage, Leukocytosis, Lymphadenitis, C... OMIM:618886
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess OMIM:147060
Roifman Syndrome
Eosinophilia, Noncompaction cardiomyopathy, Hepatosplenomegaly ORPHA:353298
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... OMIM:613101
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Trapezius muscle aplasia, Hydrocephalus OMIM:600257
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Central adrenal insufficiency, Flexion contracture, Delayed puberty, Hypog... OMIM:612079
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Stroke, Heart murmur, Oliguria, Dilatation of the sinus of Valsalva, Aort... ORPHA:1054
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Calf muscle ... ORPHA:79086
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, B ly... OMIM:616005
Distal Renal Tubular Acidosis
Nephrolithiasis, Hypokalemia, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-... ORPHA:18
Thymic Neuroendocrine Tumor
Prominent veins on trunk, Pituitary null cell adenoma, Pituitary adenoma, Increased circulating c... ORPHA:97289
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... OMIM:301045
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, ... OMIM:617575
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Infantile Sialic Acid Storage Disease
Hydrocephalus, Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated... OMIM:269920
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Hydrocephalus, Aortic valve stenosis, Atrial septal defect, Hypopl... OMIM:220210
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... ORPHA:293978
Moyamoya Disease With Early-Onset Achalasia
Stroke, Raynaud phenomenon, Abnormal platelet aggregation, Moyamoya phenomenon, Abnormal cerebral... ORPHA:401945
1Q21.1 Microduplication Syndrome
Hydrocephalus, Hypospadias, Tetralogy of Fallot, Arthrogryposis multiplex congenita, Cryptorchidism ORPHA:250994
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:600903
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Hypoammonemia, Hematuria, Proteinuria, Nephr... ORPHA:534
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... OMIM:600649
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Hyperthyroidism, Palpitations, Tachycardia, Rhabdomyolysis, Goiter OMIM:188580
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Elevated circulating amyloid A, Mitral reg... OMIM:619750
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal renal phys... ORPHA:540
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alph... OMIM:613095
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... OMIM:300635
Kearns-Sayre Syndrome
Hypoparathyroidism, Renal tubular acidosis, Arrhythmia, Renal Fanconi syndrome, Primary adrenal i... OMIM:530000
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Myoglobinuria, Tachycardia, Hypotension, Rhab... OMIM:145600
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia OMIM:214700
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Lambert Syndrome
Intrahepatic biliary atresia, Hypospadias, Cholestasis, Ventricular septal defect, Decreased circ... ORPHA:1296
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Abnormal ly... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy OMIM:613876
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Elevated circulating growth hormone concentration, Abnormal pulmonary ... ORPHA:97287
Marburg Hemorrhagic Fever
Pancreatitis, Elevated circulating creatinine concentration, Reticulocytosis, Pericarditis, Jaund... ORPHA:99826
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... OMIM:613237
Lipodystrophy, Familial Partial, Type 4