banner
Genes Phenotypes Help, News, Blog

Gene: Aldh2 MGI:99600

Log in to follow

Gene Summary

Name:
aldehyde dehydrogenase 2, mitochondrial
Synonyms:
Ahd-5,  Ahd5

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased IgG1 level Aldh2tm1a(EUCOMM)Wtsi HOM Early adult 2.27×10-06
abnormal lens morphology Aldh2tm1b(EUCOMM)Wtsi HOM   Early adult 8.22×10-06
decreased circulating cholesterol level Aldh2tm1a(EUCOMM)Wtsi HOM Early adult 3.57×10-05
decreased hematocrit Aldh2tm1a(EUCOMM)Wtsi HOM Early adult 5.20×10-05
decreased erythrocyte cell number Aldh2tm1a(EUCOMM)Wtsi HOM Early adult 3.24×10-06
increased IgE level Aldh2tm1a(EUCOMM)Wtsi HOM Early adult 6.40×10-08
abnormal startle reflex Aldh2tm1a(EUCOMM)Wtsi HOM Early adult 8.13×10-06
abnormal response to tactile stimuli Aldh2tm1a(EUCOMM)Wtsi HOM Early adult 1.51×10-07
decreased circulating LDL cholesterol level Aldh2tm1a(EUCOMM)Wtsi HOM Early adult 7.67×10-05
decreased CD4-positive, alpha-beta T cell number Aldh2tm1a(EUCOMM)Wtsi HOM Early adult 5.16×10-05
decreased T cell number Aldh2tm1a(EUCOMM)Wtsi HOM Early adult 3.81×10-05
decreased bone mineral density Aldh2tm1a(EUCOMM)Wtsi HOM Early adult 4.51×10-06
decreased circulating alkaline phosphatase level Aldh2tm1a(EUCOMM)Wtsi HOM Early adult 1.79×10-05
decreased CD8-positive, alpha-beta T cell number Aldh2tm1a(EUCOMM)Wtsi HOM Early adult 7.68×10-06
increased bone mineral content Aldh2tm1a(EUCOMM)Wtsi HOM Early adult 1.29×10-06
decreased circulating glycerol level Aldh2tm1a(EUCOMM)Wtsi HOM Early adult 7.42×10-05

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Electrocardiogram (ECG)

Waveform Image

32 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Human diseases caused by Aldh2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Aldh2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Alcohol Sensitivity, Acute
Reduced acetaldehyde dehydrogenase level OMIM:610251

The table below shows human diseases predicted to be associated to Aldh2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Cataract 44
Developmental cataract OMIM:616509
Alcohol Sensitivity, Acute
Reduced acetaldehyde dehydrogenase level OMIM:610251
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Cardiomyopathy, Dilated, 1M
Reduced left ventricular ejection fraction, Impaired myocardial contractility, Congestive heart f... OMIM:607482
Cardiomyopathy, Dilated, 1L
Reduced left ventricular ejection fraction, Sudden cardiac death, Reduced systolic function, Cong... OMIM:606685
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Cardiomyopathy, Dilated, 1J
Sudden death, Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure,... OMIM:605362
Immunodeficiency 24
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... OMIM:615897
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... OMIM:604765
Cardiomyopathy, Dilated, 2A
Cardiomyocyte hypertrophy, Myofiber disarray, Congestive heart failure, Increased left ventricula... OMIM:611880
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Trichomegaly
Cataract OMIM:190330
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Increased... OMIM:618944
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 15
Pulmonary arterial hypertension, Cardiomyocyte hypertrophy, Apical hypertrophic cardiomyopathy, L... OMIM:613255
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... OMIM:212050
Cardiomyopathy, Dilated, 1Ff
Increased left ventricular end-diastolic volume, Severely reduced left ventricular ejection fract... OMIM:613286
Cardiomyopathy, Dilated, 1Ee
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Congestive heart failure... OMIM:613252
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Osteopenia, Intention tremor, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splen... OMIM:610539
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:609909
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Sudden death, Congestive ... OMIM:192600
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... OMIM:613694
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Chest tightness, Left ventricular noncompaction cardiomyopathy, Mit... OMIM:604169
Cardiomyopathy, Dilated, 1Hh
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy OMIM:613881
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left at... OMIM:608751
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Defective T cell proliferation, R... OMIM:614493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... OMIM:604400
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... OMIM:600884
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Long Qt Syndrome 13
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... OMIM:613485
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... ORPHA:45453
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... OMIM:615396
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgE level, Increased circulating IgG level, Increased p... OMIM:618982
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... OMIM:617241
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Congestive heart... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 14
Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction... OMIM:613251
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... OMIM:613642
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Hepatosplenomegaly, Increased circulating antibody level, Decrea... ORPHA:169154
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Granuloma, Hepatosplenomegaly, Lymphopenia, Thrombocytopenia, Elevated proporti... OMIM:619802
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... OMIM:613697
Loeffler Endocarditis
Mitral regurgitation, Left ventricular hypertrophy, Palpitations, Fatigue, Aortic regurgitation, ... ORPHA:75566
Atrial Septal Defect, Sinus Venosus Type
Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricular arrhyt... ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Chest pain, Left anterior fascicular block, Ventricular tachycardia, Atrial septa... OMIM:612098
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... OMIM:612877
Immunodeficiency 95
Increased circulating IgG3 level, Lymphopenia, Decreased circulating IgG3 level OMIM:619773
Cardiomyopathy, Dilated, 1K
Gallop rhythm, Congestive heart failure, Dilated cardiomyopathy OMIM:605582
Familial Progressive Cardiac Conduction Defect
Heart block, Syncope, Arrhythmia, Abdominal pain, Bundle branch block, Congestive heart failure ORPHA:871
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Dermoids Of Cornea
Corneal opacity OMIM:304730
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c... OMIM:606843
Immunodeficiency 48
Panhypogammaglobulinemia, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Increased circulating IgE level, Lymphopenia, B lymphocytopenia,... ORPHA:277
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation, Reduced left ventricular e... OMIM:614672
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:619824
Cardiomyopathy, Dilated, 1G
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... OMIM:604145
Cardiomyopathy, Dilated, 1O
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgE level, Reduced circulating interleukin... OMIM:619632
Galactosemia Iv
Cataract OMIM:618881
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Chest pain, Prolonged QRS complex, Wolff-Parkinson-White syndrome,... OMIM:600858
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased... OMIM:615767
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Hepatosplenomegaly, Decreased proportion of CD4-positive T cells... OMIM:618534
Immunodeficiency 105
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... OMIM:619924
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... OMIM:601494
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... OMIM:300400
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:611926
Fixed Subaortic Stenosis
Ventricular septal defect, Bacterial endocarditis, Left ventricular outflow tract obstruction, At... ORPHA:3092
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... OMIM:601859
Cataract 10, Multiple Types
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Craniosynostosis, Increased circulating IgE level, Osteopenia, Eosinophilia, Cutaneous abscess, R... OMIM:147060
Cataract 47
Cataract, Microcornea OMIM:612018
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level... OMIM:619752
Sudden Cardiac Failure, Infantile
Myocarditis, Myocardial fibrosis, Sudden cardiac death, Congestive heart failure, Hypertrophic ca... OMIM:617222
Cardiomyopathy, Dilated, 2F
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa... OMIM:619747
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Peripartum Cardiomyopathy
Myocarditis, Reduced left ventricular ejection fraction, Diabetes mellitus, Abdominal pain, Abnor... ORPHA:563
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... ORPHA:217607
Cataract 1, Multiple Types
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract OMIM:116200
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Increase... OMIM:615513
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Salmonella osteomyelitis, Histiocytosis, Increased circ... OMIM:209950
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... OMIM:607450
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Abnormal heart valve morphology, Congestive heart f... ORPHA:1345
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Ventricular septal defect, Left ventricular outflow tract obstruction, Subva... OMIM:614980
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T... ORPHA:169079
Isolated Right Ventricular Hypoplasia
Systolic heart murmur, Right ventricular failure, Atrial septal defect, Right-to-left shunt, Card... ORPHA:439
Cardiomyopathy, Dilated, 1Oo
Reduced left ventricular ejection fraction, Atrial septal defect, Second degree atrioventricular ... OMIM:620247
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Fatigue, Abdominal pain OMIM:616794
Coronary Arterial Fistula
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, At... ORPHA:2041
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia ORPHA:217390
Ebstein Malformation Of The Tricuspid Valve
Right bundle branch block, Abnormal endocardium morphology, Chest pain, Atrial septal defect, Arr... ORPHA:1880
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Hypertension, Type II diabetes mellitus, Congestive heart failure, Hypertrophic cardi... ORPHA:225
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating total IgM, Oligoarthritis, Decrease... OMIM:619510
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Endocardial fibroelastosis, Congestive heart failure, Anterior hypopi... ORPHA:2022
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... ORPHA:300751
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... OMIM:615916
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level OMIM:247800
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:616198
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Diabetes mellitus, Arrhythmia, Hype... OMIM:540000
Cataract 3, Multiple Types
Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract OMIM:601547
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Decreased proportion of memory B cells, Increased CD4:CD8 ratio,... OMIM:618048
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Craniosynostosis, Increased circulating IgE level, Joint contracture of the hand, Eosinophilia OMIM:618523
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Congenital Gerbode Defect
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... ORPHA:99095
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Attrv122I Amyloidosis
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... ORPHA:85451
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Right bundle branch block, Reduced left ventricular ejection fraction, Hepatomega... OMIM:115197
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Sandhoff Disease
Congestive heart failure, Hepatomegaly, Splenomegaly ORPHA:796
Mu-Heavy Chain Disease
Abnormal B cell count, Osteolysis, Increased circulating antibody level, Anemia, Osteoporosis, Sp... ORPHA:100024
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia OMIM:617638
Congenitally Uncorrected Transposition Of The Great Arteries
Maternal diabetes, Abnormal pulmonary valve morphology, Abnormality of blood circulation, Abnorma... ORPHA:860
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgE level, Reduced natural killer cell cou... OMIM:243700
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Tricuspid regurgitation, Congestive heart failure,... ORPHA:615
Cardiomyopathy, Familial Hypertrophic, 26
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Left atrial enlarge... OMIM:617047
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Myalgia, Congestive heart failure, Dilated cardiomyopathy, Left ventricular hypertrophy ORPHA:206546
Hemochromatosis, Type 2A
Arrhythmia, Cardiomyopathy, Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiom... OMIM:602390
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Decreased circulat... ORPHA:859
Proximal Myotonic Myopathy
Cataract ORPHA:606
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Complete or near-complete absence of specific antibody re... ORPHA:70593
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic ... OMIM:614096
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... OMIM:153600
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... OMIM:603909
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy OMIM:605676
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Decreased specific anti-polysaccharide antibody level, Hemolytic anemia, Decr... OMIM:606367
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure OMIM:301021
Immunodeficiency 62
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... OMIM:618459
Congenital Myopathy 5 With Cardiomyopathy
Arrhythmia, Severely reduced left ventricular ejection fraction, Sudden cardiac death, Congestive... OMIM:611705
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... ORPHA:57777
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Hypertension, Type II diabetes mellitus, Congestive heart failure OMIM:615703
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa... ORPHA:449400
Pgm3-Cdg
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Leukopenia... ORPHA:443811
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Naxos Disease
Arrhythmia, Cardiomyopathy, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricula... ORPHA:34217
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Hepatomegaly, Ventricular hypertrophy, Congestive heart failure, Br... OMIM:619048
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... ORPHA:1055
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Ventricular septal defect, Diabetes mellitus, Atrial septal defect, Congestive he... ORPHA:49827
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Lower limb pain, Hypertension, Exercise intolerance, Fatigue, Congestive heart failure, Dilated c... ORPHA:1349
Arterial Calcification, Generalized, Of Infancy, 2
Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Hypertension... OMIM:614473
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Increased circulating antibody level, Anemia, Thrombocy... OMIM:615285
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, Neutropenia, Arthritis, Eos... OMIM:304790
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability OMIM:614896
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular canal defect, Postexertion... ORPHA:1329
Hemochromatosis, Type 2B
Hypogonadism, Cardiomyopathy, Hepatomegaly, Congestive heart failure, Splenomegaly OMIM:613313
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Sudden death, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Drug-Induced Autoimmune Hemolytic Anemia
Fatigue, Tachycardia, Congestive heart failure, Splenomegaly ORPHA:90037
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia... OMIM:202700
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Heart murmur, Congestive heart failure, Ventricular hypertrophy ORPHA:3400
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Cataract 20, Multiple Types
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract OMIM:116100
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Syncope, Palpitations, Elevated jugular venous pressure, Hepatom... ORPHA:422
Cataract 39, Multiple Types
Developmental cataract, Anterior polar cataract, Lamellar cataract OMIM:615188
Caspase 8 Deficiency
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:607271
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level, Limited elbow flexion, Tremor, Limitation of movem... ORPHA:206594
Atrial Septal Defect, Ostium Secundum Type
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... ORPHA:99103
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Sp... OMIM:614470
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hypertriglyceridemia, Decre... OMIM:615558
Familial Cutaneous Collagenoma
Cardiomyopathy, Angina pectoris, Congestive heart failure, Atrial septal defect ORPHA:53296
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Lymphoproliferative Syndrome, X-Linked, 1
Hemophagocytosis, Aplastic anemia, Neutropenia, Reduced natural killer cell activity, Increased c... OMIM:308240
Desminopathy
Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Supraventricular arrhythmia, Conges... ORPHA:98909
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... OMIM:619707
Immunodeficiency 43
Hypoproteinemia, Lung abscess, Decreased circulating beta-2-microglobulin level, Reduced natural ... OMIM:241600
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... OMIM:618987
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Cardiomyopathy, Dilated, 1Y
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Con... OMIM:611878
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Atrial Septal Defect, Ostium Primum Type
Tricuspid regurgitation, Atrial fibrillation, Pulmonary arterial hypertension, Third heart sound,... ORPHA:99106
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Neutropenia, Decreased circulating IgA level, Decreased circulat... OMIM:613502
Naxos Disease
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... OMIM:601214
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cells, Decreased circulatin... ORPHA:276
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... ORPHA:3261
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive... ORPHA:2902
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Autoimmune Hemolytic Anemia
Arrhythmia, Fatigue, Abdominal pain, Congestive heart failure, Splenomegaly ORPHA:98375
Hemochromatosis, Type 1
Testicular atrophy, Diabetes mellitus, Arrhythmia, Cardiomyopathy, Hepatomegaly, Abdominal pain, ... OMIM:235200
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Decreased circulating IgG2 level, Reduced red cell adenosine dea... OMIM:102700
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportio... OMIM:613011
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Wolff-Parkinson-White syndrome, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:618234
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Splenomegaly OMIM:618495
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia, Cutaneous abscess... OMIM:618282
Babesiosis
Hepatomegaly, Fatigue, Congestive heart failure, Arthralgia, Myocardial infarction, Myalgia, Sple... ORPHA:108
Danon Disease
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely reduced left ventricul... OMIM:300257
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal guttata, Corneal dystrophy, Corneal stromal edema, Corneal degen... OMIM:136800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy OMIM:608099
Cardiac Valvular Dysplasia, X-Linked
Short chordae tendineae of the mitral valve, Mitral regurgitation, Aortic regurgitation, Tricuspi... OMIM:314400
Immunodeficiency 23
Hemolytic anemia, Abscess, Increased circulating IgE level, Lymphopenia, Increased circulating Ig... OMIM:615816
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Immunodeficiency 67
Increased circulating IgE level, Liver abscess, Transient neutropenia OMIM:607676
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig... OMIM:618394
Non-Functioning Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Fatigue, Hypertension associated with pheoc... ORPHA:94080
Lead Poisoning
Increased LDL cholesterol concentration, Anemia, Abnormality of humoral immunity, Increased circu... ORPHA:330015
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Reduced bone mineral density, Decreased circulating total IgM, Leukopenia, Joint stiffness, Lymph... OMIM:620210
Atransferrinemia
Congestive heart failure OMIM:209300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, Arthritis, T lymphocytopenia OMIM:601457
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Lymphopenia, Aplasia of the thymus, Eosinophilia, Panhypogammagl... OMIM:602450
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Idiopathic Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Syncope, Palpitations, Tricuspid regurgitation, Right ventricula... ORPHA:275766
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... OMIM:613426
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Wild Type Abeta2M Amyloidosis
Pain, Neck pain, Arrhythmia, Shoulder pain, Gastrointestinal hemorrhage, Congestive heart failure ORPHA:85446
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Absent isohemagglutinin level, Decreased proportion of memory B cells, Decrea... OMIM:615559
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Increased circulating free T3, Decreased thyroid-stimulating hormone leve... OMIM:275000
Immunodeficiency 22
Decreased circulating total IgM, Anemia, Abscess, Decreased circulating IgA level, Decreased circ... OMIM:615758
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Flexion contracture of toe, Increased circulating IgE level, Osteoporosi... ORPHA:3409
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency With Hyper-Igm, Type 1
Impaired Ig class switch recombination, Increased circulating IgA level, Hemolytic anemia, Neutro... OMIM:308230
Polymyositis
Vasculitis, Arrhythmia, Abnormal mitral valve morphology, Hepatomegaly, Fatigue, Abdominal pain, ... ORPHA:732
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Ventricular septa... ORPHA:216694
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Fourth heart sound, Right axis deviation, Sinus tachycardia, Elevated jugular venous pressure, Bi... OMIM:255160
Congenital Tricuspid Stenosis
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Tricuspid regurgitation, Co... ORPHA:95459
Cardiomyopathy, Dilated, 2G
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Left atrial enlar... OMIM:619897
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Syncope, Fatigue, Right ventricular hypertrophy, Angina pectoris... OMIM:265400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Abnormal natural killer cell physiology, Hypertrigl... OMIM:613101
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy ORPHA:324588
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Leukocytosis, Decreased circulating IgA level, Reduced natural k... OMIM:619281
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Abnormality of humoral immunity, Autoimmune... ORPHA:572
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... OMIM:613838
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia, Splenomegaly OMIM:607765
Schnitzler Syndrome
Increased bone mineral density, Leukocytosis, Anemia, Arthritis, Increased circulating IgM level,... ORPHA:37748
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Autoimmune thromb... OMIM:300853
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Diabetes mellitus, Arrhythmia, Cardiomyopathy, Elevated jugular venous pressu... ORPHA:465508
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Leukopenia, Joint stiffness, Anemia, Lymphopenia, Increased circ... OMIM:615934
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... OMIM:614021
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Abnormal circulating IgG level, Eosinophilia, Thrombocytopenia,... OMIM:226990
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Hepatomegaly, Chylopericardium, Tricuspid reg... ORPHA:2414
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141179
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgA, Decreased circulating total IgG... OMIM:618969
Wiskott-Aldrich Syndrome
Increased circulating IgA level, Decreased circulating total IgM, Impaired lymphocyte transformat... OMIM:301000
Cataract 31, Multiple Types
Nuclear cataract, Anterior subcapsular cataract, Posterior subcapsular cataract OMIM:605387
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:612692
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... OMIM:225200
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... OMIM:618108
Thrombocytopenia 1
Increased circulating IgA level, Intermittent thrombocytopenia, Increased circulating IgE level, ... OMIM:313900
Cednik Syndrome
Congestive heart failure, Hypogonadism ORPHA:66631
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Autosomal Dominant Hyper-Ige Syndrome
Craniosynostosis, Increased circulating IgE level, Osteopenia, Eosinophilia, Osteomyelitis, Joint... ORPHA:2314
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Chest pain, Ventricular tachycardia, Left ventricular hypertrophy,... OMIM:608758
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Autoimmune Hemolytic Anemia, Warm Type
Fatigue, Congestive heart failure, Arthralgia, Tachycardia, Splenomegaly ORPHA:90033
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Congestive heart failure ORPHA:157973
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Hypereosinophilia, Decreased circulating total IgM, Increased circulating IgE l... ORPHA:508533
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615617
Immunodeficiency 11
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... OMIM:615206
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... OMIM:617280
Acquired Aneurysmal Subarachnoid Hemorrhage
Prolonged QTc interval, Hypopituitarism, Cerebral hemorrhage, Left ventricular hypertrophy, Synco... ORPHA:90065
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Increased circulating antibody level, Anemia, Thrombo... ORPHA:507
Spinal Arteriovenous Metameric Syndrome
Bone pain, Fatigue, Gangrene, Congestive heart failure, Arthralgia ORPHA:53721
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Partial absence of specific antibody response to Haemophilus infl... OMIM:618986
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic decreased cirulating IgG2, Abnormal B cell morphology, Decre... OMIM:615607
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Osteoporosis, Hypocholesterolemia OMIM:266510
Infantile Sialic Acid Storage Disease
Cardiomegaly, Congestive heart failure, Hepatomegaly, Splenomegaly OMIM:269920
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Decreased circulating IgA level, Osteopenia, Tremor, Intention tremor, Decreased cir... OMIM:212065
Laubry-Pezzi Syndrome
Chest pain, Right ventricular outlet tract obstruction, Subarterial ventricular septal defect, Ve... ORPHA:99094
American Trypanosomiasis
Myocarditis, Arrhythmia, Cardiomyopathy, Achalasia, Hepatomegaly, Abdominal pain, Congestive hear... ORPHA:3386
Wild Type Attr Amyloidosis
Abnormal EKG, Bowel incontinence, Arrhythmia, Hepatomegaly, Myocardial infarction, Congestive hea... ORPHA:330001
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Eosinophilia, Lymph... ORPHA:911
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Cataract 15, Multiple Types
Nuclear cataract, Cortical cataract, Lamellar cataract OMIM:615274
Cataract 33, Multiple Types
Nuclear cataract, Cortical cataract, Lamellar cataract OMIM:611391
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141184
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Long Qt Syndrome 15
Cardiac arrest, Prolonged QTc interval, Left ventricular noncompaction, Syncope, Ventricular bige... OMIM:616249
Anterior Segment Dysgenesis 1
Opacification of the corneal stroma, Posterior polar cataract, Microcornea, Peters anomaly, Ocula... OMIM:107250
Chronic Atrial And Intestinal Dysrhythmia
Mitral regurgitation, Pulmonic stenosis, Left atrial enlargement, Sick sinus syndrome, Bicuspid a... OMIM:616201
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Atrial septal defect, Sudden cardiac death, Congestive heart failur... OMIM:610198
Multiple Myeloma
Increased circulating IgA level, Pathologic fracture, Anemia, Hyperproteinemia, Osteopenia, Incre... ORPHA:29073
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Secondary hyperaldosteronism, Decreased prealbumin level, Decrea... ORPHA:90363
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ion concentration, Increased... ORPHA:37042
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tricuspid ... OMIM:614022
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Congestive heart failure OMIM:619751
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Hypereosinophilia, Autoimmune hemolytic anemia, Increased circul... OMIM:617388
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ... OMIM:217700
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Decreased circulating total IgM, Abnormal B cell count, Decreased proportion ... ORPHA:331206
Dk1-Cdg
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Arrhythmia, Congestive heart failure, D... ORPHA:91131
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Severely reduced left ventricular e... ORPHA:444013
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Acanthocytosis ORPHA:71
Boutonneuse Fever
Increased circulating IgG level, Thrombocytopenia, Leukopenia, Increased circulating IgM level ORPHA:83313
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Immune-Mediated Necrotizing Myopathy
Myocarditis, Raynaud phenomenon, Palpitations, Congestive heart failure, Arthralgia, Myalgia, Che... ORPHA:206569
Sick Sinus Syndrome 2
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro... OMIM:163800
Aortic Arch Interruption
Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... ORPHA:2299
Alg12-Cdg
Camptodactyly, Partial absence of specific antibody response to Haemophilus influenzae type b (Hi... ORPHA:79324
Aspergillosis
Increased circulating IgE level, Neutropenia, Osteomyelitis, Eosinophilia ORPHA:1163
Cardiogenic Shock
Cardiac arrest, Abnormal EKG, ST segment elevation, Mitral regurgitation, Hypotension, Elevated j... ORPHA:97292
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Fabry Disease
Delayed puberty, Left ventricular hypertrophy, Arrhythmia, Hypertension, Abdominal pain, Transien... OMIM:301500
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased circulating total IgM, Decreased ... ORPHA:331235
Carnitine Deficiency, Systemic Primary
Mitral regurgitation, Cardiomyopathy, Hepatomegaly, Congestive heart failure, Hypertrophic cardio... OMIM:212140
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology, ... OMIM:614954
Pheochromocytoma--Islet Cell Tumor Syndrome
Cerebral hemorrhage, Pheochromocytoma, Congestive heart failure, Positive regitine blocking test,... OMIM:171420
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral regurgitation, Tricuspid regurgitation, Atrial flutter, Aortic valve stenosis, Congestive ... ORPHA:324410
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Hypochromic anemia, Increased circulating IgE level, Increased circulating IgG leve... OMIM:618213
Cardiac Diverticulum
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology, ... ORPHA:1686
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Mitral regurgitation, ... ORPHA:66529
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Histiocytosis, Increased circulating IgM level, B lymphocytopenia, Hepatospleno... ORPHA:2442
Barth Syndrome
Arrhythmia, Exercise intolerance, Fatigue, Tricuspid regurgitation, Congestive heart failure, Inc... OMIM:302060
Immunodeficiency 13
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... OMIM:615518
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Decreased circulating IgA ... OMIM:616005
Mulibrey Nanism
Hepatomegaly, Congestive heart failure, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Hb Bart'S Hydrops Fetalis
Pericarditis, Congestive heart failure, Hepatomegaly, Splenomegaly ORPHA:163596
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Arrhythmia, Hepatomegaly, Congestive heart failure, Hypertro... ORPHA:1194
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:605258
Collagenoma, Familial Cutaneous
Vasculitis, Right ventricular cardiomyopathy, Cardiomyopathy, Tricuspid regurgitation, Congestive... OMIM:115250
Maternal Uniparental Disomy Of Chromosome 4
Abnormal erythrocyte morphology, Decreased LDL cholesterol concentration, Abetalipoproteinemia, A... ORPHA:96180
Pediatric-Onset Graves Disease
Graves disease, Goiter, Sinus tachycardia, Palpitations, Hypertension, Hepatomegaly, Puberty and ... ORPHA:525731
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Knee flexion contracture, Elevated circulating methylsuc... OMIM:618156
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block ORPHA:85447
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... ORPHA:169160
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy OMIM:606703
Primary Lipodystrophy
Cardiomyopathy, Hypertension, Angina pectoris, Type II diabetes mellitus, Congestive heart failur... ORPHA:90970
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased circulating total IgM, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Abnormal heart morphology, Hypertrophic cardiomyopathy ORPHA:70472
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation, Atrial septal defect OMIM:613087
Ataxia-Telangiectasia
Hypoplasia of the thymus, Decreased circulating IgG2 level, Elevated circulating alpha-fetoprotei... OMIM:208900
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Anemia, Lymphopenia, Arthritis, Hypertriglyceridemia, Throm... OMIM:617591
Glycogen Storage Disease Of Heart, Lethal Congenital
ST segment elevation, Prolonged QRS complex, Hypotension, Enlarged kidney, Increased myocardial g... OMIM:261740
Klippel-Trénaunay Syndrome
Atrial septal defect, Pulmonary embolism, Hepatomegaly, Abnormal tricuspid valve morphology, Gast... ORPHA:90308
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Adrenal pheochromocytoma, Fatigue, Hyperten... ORPHA:276621
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of B cell physiology, Abs... OMIM:600802
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Agammaglobulinemia, X-Linked
Decreased circulating total IgM, Anemia, Neutropenia, Decreased circulating IgA level, Decreased ... OMIM:300755
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Congestive heart failure ORPHA:261519
Sitosterolemia 1
Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Reduced haptoglobin lev... OMIM:210250
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, Tetralogy of... OMIM:601005
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati... OMIM:619774
Caffey Disease
Calvarial hyperostosis, Increased circulating antibody level, Cortical thickening of long bone di... ORPHA:1310
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decrea... OMIM:616100
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Fatigue, Congestive heart failure, Myalgia, Cardiomegaly OMIM:619259
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Diabetes insipidus, Congestive heart failure, Atrial septal defect ORPHA:500533
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... OMIM:619705
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Decreased circulating... OMIM:301078
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence of specific ... OMIM:619652
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Adult Idiopathic Neutropenia
Lymphopenia, Increased circulating IgM level, Monocytopenia, Abnormal neutrophil count, Monocytos... ORPHA:2688
Pseudoxanthoma Elasticum
Hypertension, Intermittent claudication, Weak pulse, Angina pectoris, Restrictive cardiomyopathy,... OMIM:264800
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Diabetes mellitus, Hypertension, Hepatomegaly, Congestive heart failure, Hyper... ORPHA:79083
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Thyroid follicular hyperplasia, Pheochromocyto... OMIM:160980
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hypertrophi... OMIM:613873
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Absence Of The Pulmonary Artery
Abnormal EKG, Pulmonary arterial hypertension, Chest pain, Systolic heart murmur, Reduced left ve... ORPHA:980
Mitochondrial Trifunctional Protein Deficiency
Mitral regurgitation, Left ventricular hypertrophy, Hypoparathyroidism, Cardiomyopathy, Arrhythmi... ORPHA:746
Aorta Coarctation
Pulmonary arterial hypertension, Hypoplastic left heart, Tetralogy of Fallot, Hypertension, Perim... ORPHA:1457
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Leukopenia, Bone marrow hypocellularity, Refractory anemia, Throm... OMIM:231095
Liddle Syndrome
Arrhythmia, Hypertension, Cerebral ischemia, Fatigue ORPHA:526
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Perimembranous ve... OMIM:618782
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Classic Multiminicore Myopathy
Mitral valve prolapse, Right ventricular hypertrophy, Congestive heart failure, Right ventricular... ORPHA:324604
Hereditary Pheochromocytoma-Paraganglioma
Elevated calcitonin, Cerebral hemorrhage, Sinus tachycardia, Palpitations, Adrenal pheochromocyto... ORPHA:29072
Abetalipoproteinemia
Reticulocytosis, Anemia, Decreased LDL cholesterol concentration, Steatorrhea, Osteopenia, Acanth... ORPHA:14
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:614069
Gaucher Disease Type 1
Increased bone mineral density, Osteolysis, Leukopenia, Increased circulating antibody level, Ane... ORPHA:77259
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Fibrofatty replacem... OMIM:609040
Cataract 24
Anterior polar cataract OMIM:601202
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Vasculitis, Recurrent intrapulmonary hemorrhage, Abnormal pericardium morphology, En... ORPHA:183
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... ORPHA:35078
Microcephalic Primordial Dwarfism, Toriello Type