Gene Summary

Name:
notch 1
Synonyms:
Tan1,  9930111A19Rik,  N1,  Mis6,  Motch A,  lin-12

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
increased grip strength Notch1tm1b(EUCOMM)Hmgu HET Early adult 2.46×10-05
abnormal vertebrae morphology Notch1tm1b(EUCOMM)Hmgu HET Early adult 3.38×10-05
increased startle reflex Notch1tm1b(EUCOMM)Hmgu HET Early adult 1.87×10-10
preweaning lethality, complete penetrance Notch1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 50% (1 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote Ambiguous
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote Ambiguous
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Adult LacZ

LacZ Images Wholemount

27 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Skull Lateral Orientation

1 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Notch1 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 Notch1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Notch1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cervical Vertebral Bridge
Abnormality of the vertebral column OMIM:118000
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve stenosis, Aortic valve calcification OMIM:114065
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
Storm Syndrome
Myxomatous mitral valve degeneration, Mitral valve prolapse, Mitral valve calcification, Mitral s... OMIM:185069
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced ejection fraction, Angina pectoris, ... ORPHA:3093
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Immunodeficiency 8
Lymphopenia OMIM:615401
Cernunnos-Xlf Deficiency
B lymphocytopenia, Growth delay, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... ORPHA:169079
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Familial Bicuspid Aortic Valve
Bicuspid aortic valve, Hypertension, Aortic regurgitation, Abnormal left ventricular outflow trac... ORPHA:402075
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... OMIM:267500
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... OMIM:613424
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body ORPHA:2777
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... OMIM:601493
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Immunodeficiency 76
B lymphocytopenia, Growth delay, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly ORPHA:3180
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Aortic Valve Disease 3
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis OMIM:618496
Gaucher Disease, Type Iiic
Mitral valve calcification, Cardiomegaly, Mitral stenosis, Aortic valve calcification, Calcificat... OMIM:231005
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Brachyolmia Type 2
Platyspondyly OMIM:613678
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Alkaptonuria
Hypertension, Mitral valve calcification, Prostatitis, Coronary artery calcification, Arthritis, ... ORPHA:56
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis OMIM:615377
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, T lymphocytopenia, Splenomegaly OMIM:608971
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... OMIM:616201
Spondylosis, Cervical
Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis OMIM:184300
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph... ORPHA:277
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Immunodeficiency 85 And Autoimmunity
Growth delay, Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural k... OMIM:619510
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... OMIM:612158
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology OMIM:615373
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Platyspondyly, Increased vertebral height ORPHA:93304
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Alkaptonuria
Coronary artery calcification, Arthritis, Mitral valve calcification, Aortic valve calcification OMIM:203500
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis OMIM:241550
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Lymphadenopathy, Decreased lymphocyte proliferation... ORPHA:169154
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia OMIM:614435
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... OMIM:609813
Caspase 8 Deficiency
Short stature, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level,... OMIM:607271
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... ORPHA:75566
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Platyspondyly, Schmorl's node, Irregular vertebral endplates OMIM:604864
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... OMIM:618108
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, De... OMIM:300853
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart, Tetralogy of Fa... OMIM:615779
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... OMIM:600802
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Short neck, Vertebral segmentation defect, Hemivertebrae OMIM:608681
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Hemoglobin E Disease
Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ... ORPHA:2133
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia OMIM:247610
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology, Thrombocytopenia ORPHA:3319
Gaucher Disease Type 3
Pericardial effusion, Mitral valve calcification, Pulmonary arterial hypertension, Abnormal heart... ORPHA:77261
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular hypert... OMIM:604169
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Subaortic Stenosis, Membranous
Subvalvular aortic stenosis OMIM:271950
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Increased ci... OMIM:618534
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Tetralogy of Fallot w... OMIM:108800
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, Short chordae tendineae of th... OMIM:314400
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia, Intrauterine growth retardation, Anemia ORPHA:295
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Reticulo... OMIM:613673
Retinal Venous Beading
Retinal infarction, Hearing impairment, Retinal neovascularization, Vitreous hemorrhage, Abnormal... OMIM:180080
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies, Sacral dimple ORPHA:2064
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Syncope, Partial atrioventricular canal defect, Mi... ORPHA:1330
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Syncope, Abnormal le... ORPHA:2041
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve OMIM:300049
Immunodeficiency 55
Intrauterine growth retardation, Neutropenia, Short stature, Lymphadenopathy, Postnatal growth re... OMIM:617827
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... ORPHA:3092
Dyskeratosis Congenita, Autosomal Recessive 5
Intrauterine growth retardation, Leukopenia, Decreased circulating antibody level, Bone marrow hy... OMIM:615190
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve OMIM:614823
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Follicular hype... OMIM:601859
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia, Increased circulating IgE level ORPHA:217390
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation ORPHA:1296
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Bicuspid aortic valve, Atrial septal defect OMIM:615981
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve OMIM:615599
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve ORPHA:228190
Eosinophilia, Familial
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Hutchinson-Gilford Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral valve calcification, Abnormal mitral valve morpholo... ORPHA:740
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... OMIM:607594
Gaucher Disease
Mitral valve calcification, Hepatitis, Pulmonary arterial hypertension, Osteomyelitis, Abnormal h... ORPHA:355
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Osteogenesis Imperfecta, Type Vi
Biconcave vertebral bodies, Vertebral compression fracture, Beaking of vertebral bodies OMIM:613982
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... ORPHA:35078
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... ORPHA:572
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Anisocytosis, Poikilocy... OMIM:615631
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Immunodeficiency 36
Chronic lymphatic leukemia, Growth delay, Short stature, Decreased circulating antibody level, Sp... OMIM:616005
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Mitral valve calcification, Pulmonary arterial hypertension, Spontaneous,... ORPHA:2072
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Postnatal growth retardation, Bone marrow hypocellularity OMIM:609054
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG ... ORPHA:331206
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonary arterial hypertension, Hypertension OMIM:613355
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Growth delay, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve OMIM:604381
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short stature, Decreased circulating IgA level, Reduced natural killer cell count, Increased circ... OMIM:242860
Singleton-Merten Syndrome 1
Aortic arch calcification, Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis,... OMIM:182250
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Transposition of the great arteries OMIM:612474
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Decreased circulating IgA level, Lymphadenopathy, Decreased ... OMIM:606367
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Immunodeficiency 54
Intrauterine growth retardation, Short stature, Lymphadenopathy, Splenomegaly, Reduced natural ki... OMIM:609981
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Ataxia-Telangiectasia
Short stature, Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B c... OMIM:208900
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Perimembranous ventricular septal defect, Cardiomegaly, Pulm... ORPHA:1457
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... ORPHA:2442
Anemia, Congenital Dyserythropoietic, Type Ia
Mild postnatal growth retardation, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocyto... OMIM:224120
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymph node hypoplasia, Decreased circulating IgA level, Ab... ORPHA:276
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... OMIM:615925
Lymphoproliferative Syndrome 1
Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating antibody leve... OMIM:613011
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... ORPHA:99095
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Neonatal death OMIM:273680
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Atypical Werner Syndrome
Hypertension, Chondrocalcinosis, Mitral valve prolapse, Telangiectasia of the skin, Subcutaneous ... ORPHA:79474
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Diamond-Blackfan Anemia 9
Anemia, Growth delay OMIM:613308
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Rheumatic Fever
Myocarditis, Sinusitis, Pericarditis, Endocarditis, Abnormal aortic valve morphology, Abnormal mi... ORPHA:3099
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... OMIM:193220
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart OMIM:618845
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Pericarditis, Arthritis OMIM:609939
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Arthritis OMIM:208250
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Mildly reduced ejection fraction, Aortic valve ... ORPHA:99094
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash OMIM:152700
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes, Decreased proportion of CD4-positive h... ORPHA:543
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Exaggerated startle response, Kyphosis OMIM:609541
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Intermittent claudication, Aortic va... ORPHA:2299
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia, Short stature OMIM:616435
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia, Atrial septal defect ORPHA:51208
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Co... ORPHA:1686
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Anemia, Hepatosplenomegaly, Panhypogammaglobulinemia, Decr... ORPHA:79124
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Ventricular hyper... OMIM:617321
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Palpitations, Abnormal heart morphology, Mitral stenosis, Atrial septal de... ORPHA:2847
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... ORPHA:101096
Diamond-Blackfan Anemia 20
Total anomalous pulmonary venous return, Anemia, Erythroid hypoplasia OMIM:618313
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:616501
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Immune-Mediated Necrotizing Myopathy
Myocarditis, Myositis, Palpitations, Raynaud phenomenon, Congestive heart failure, Skin rash ORPHA:206569
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Arthritis, Septi... ORPHA:31205
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis OMIM:187800
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Pericarditis, Skin rash, Anterior uveitis ORPHA:85414
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Intrauterine growth retardation, Anemia OMIM:618838
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Pulmonic stenosis OMIM:619149
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Eczema, Abnormal heart morphology, Recurrent ot... ORPHA:500159
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Chondrocalcinosis, Pericarditis, Abnormal mi... ORPHA:732
American Trypanosomiasis
Myocarditis, Infectious encephalitis, Cardiomyopathy, Congestive heart failure, Skin rash, Arrhyt... ORPHA:3386
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Lymphadenopathy, Decreas... ORPHA:83471
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Pulmonary arteri... ORPHA:210122
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Hb Bart'S Hydrops Fetalis
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Hydrocephalus ORPHA:163596
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Webbed neck ORPHA:1131
Microscopic Polyangiitis
Sinusitis, Pericarditis, Episcleritis, Peritonitis, Epistaxis, Arthritis, Pancreatitis, Increased... ORPHA:727
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... ORPHA:139402
Obesity Due To Congenital Leptin Deficiency
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... ORPHA:66628
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertro... ORPHA:284169
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Sinusitis, Hypertrophic cardiomyopathy, Hypertension, Tubulointerstitial nephritis, ... ORPHA:183
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Abnormal aortic valve morphology, Atrioventricular canal defect, Tricuspid... ORPHA:1120
Nijmegen Breakage Syndrome
B lymphocytopenia, Intrauterine growth retardation, Short stature, Dysgammaglobulinemia, Prematur... OMIM:251260
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Bicuspid aortic valve, Aortic regurgitation, Renovascular hypertension ORPHA:401923
Polyarteritis Nodosa
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon ORPHA:767
Obesity Due To Leptin Receptor Gene Deficiency
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... ORPHA:179494
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Pancreatitis, Arrhythmia, Hypotension ORPHA:188
Scedosporiosis
Sinusitis, Arthralgia/arthritis, Pericarditis, Pneumonia, Endocarditis, Septic arthritis, Osteomy... ORPHA:449280
Dohle Bodies And Leukemia
Acute myeloid leukemia, Secundum atrial septal defect, Anemia, Leukocyte inclusion bodies OMIM:223350
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Prolonged QTc interval, Malar rash, Serositis ORPHA:231111
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Aortic regurgitation, Abnormal left ventricular function OMIM:132900
Scrub Typhus
Myocarditis, Infectious encephalitis, Anterior uveitis, Skin rash, Hypotension ORPHA:83317
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Anemia, Cardiomyopathy, Neonatal death OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Anemia, Neonatal death OMIM:618835
Adult-Onset Still Disease
Myocarditis, Pericarditis, Hepatitis, Arthritis, Skin rash ORPHA:829
Heart Block, Congenital
Myocardial fibrosis, Myocardial calcification, Cardiomyopathy, Absent atrioventricular node OMIM:234700
Branchiootic Syndrome
Branchial fistula, Facial palsy ORPHA:52429
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... OMIM:616860
Relapsing Polychondritis
Myocarditis, Abnormal endocardium morphology, Pericarditis, Episcleritis, Chondritis of pinna, Ab... ORPHA:728
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Bacterial Toxic-Shock Syndrome
Myocarditis, Sinusitis, Shock, Infectious encephalitis, Pneumonia, Peritonitis, Myositis, Fasciit... ORPHA:36234
Antisynthetase Syndrome
Myocarditis, Keratoconjunctivitis sicca, Myositis, Aortic regurgitation, Pulmonary arterial hyper... ORPHA:81
Catastrophic Antiphospholipid Syndrome
Myocarditis, Pulmonary arterial hypertension, Arthritis, Arterial occlusion, Myocardial infarctio... ORPHA:464343
Legionnaires Disease
Myocarditis, Infectious encephalitis, Pericarditis, Endocarditis, Hepatitis, Pancreatitis, Arrhyt... ORPHA:549
Stiff Person Spectrum Disorder
Lumbar hyperlordosis, Exaggerated startle response ORPHA:3198
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Facial palsy OMIM:113650
Scleroderma
Myocarditis, Right ventricular failure, Syncope, Calcinosis cutis, Pericarditis, Episcleritis, Fa... ORPHA:801
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion OMIM:239850
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Pul... ORPHA:363705
Bor Syndrome
Branchial cyst, Facial palsy ORPHA:107
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Abnormal cardiac septum morphology OMIM:615009
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Atrial Standstill
Skeletal muscle atrophy, Abnormal heart morphology, Cardiomyopathy, Muscular dystrophy, Flexion c... ORPHA:1344
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Postnatal growth retar... ORPHA:288
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Short stature OMIM:617243
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Intrauterine growth retardation, Cystic hygroma, Branchial anomaly, Increased nuchal translucency... ORPHA:453499
Progeria-Short Stature-Pigmented Nevi Syndrome
Short stature, Neoplasm of the pancreas, Microcytic anemia, Premature ovarian insufficiency, T ly... ORPHA:2959
Grange Syndrome
Bicuspid aortic valve, Coronary artery stenosis, Renovascular hypertension OMIM:602531
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Short stature, Anemia, Anisocytosis, Poikilocytosis, Abnormal ... ORPHA:98870
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Scoliosis, Exaggerated startle response ORPHA:320406
Whipple Disease
Myocarditis, Infectious encephalitis, Pericarditis, Myositis, Arthritis, Myocardial infarction, G... ORPHA:3452
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Dextrotranspositi... OMIM:618619
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Growth delay, Short stature, Anemia, Patent ductus ... OMIM:613309
Q Fever
Myocarditis, Pericarditis, Pericardial effusion, Infectious encephalitis, Endocarditis, Pneumonia... ORPHA:781
Felty Syndrome
Sinusitis, Pericarditis, Episcleritis, Synovitis, Chronic otitis media, Rhinitis, Arthritis, Recu... ORPHA:47612
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Mitral valve prolapse, Double out... ORPHA:371428
Holoprosencephaly
Optic atrophy, Holoprosencephaly, Branchial anomaly, Hydrocephalus, Short neck, Spinal dysraphism ORPHA:2162
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve OMIM:619641
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Myositis, Pulmonary arterial hypertension,... ORPHA:809
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Thymic Tumor
Cardiac arrest, Pericarditis ORPHA:100100
Blau Syndrome
Hypertension, Eczema, Pericarditis, Synovitis, Arthritis, Nongranulomatous uveitis, Uveitis, Irit... OMIM:186580
Congenital Enterovirus Infection
Myocarditis, Infectious encephalitis, Pericardial effusion, Hepatitis, Cardiomyopathy, Skin rash,... ORPHA:292
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Short stature, Lymphadenopathy, Autoimmune thrombocytopenia, Lymphopenia, T lymphocy... OMIM:607944
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Aortic valve stenosis OMIM:243310
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Hearing impairment OMIM:619074
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Patent foramen ovale ORPHA:329224
Craniofacial Microsomia
Branchial anomaly, Hydrocephalus, Patent ductus arteriosus OMIM:164210
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Left ventricular hy... OMIM:619167
Stiff-Person Syndrome
Lumbar hyperlordosis, Opisthotonus, Exaggerated startle response OMIM:184850
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Webbed neck, Optic disc coloboma, Patent ductus arteriosus, Hydrocephalus, Low... ORPHA:261337
Kawasaki Disease
Myocarditis, Pericarditis, Double outlet right ventricle with subpulmonary ventricular septal def... ORPHA:2331
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Double outlet right ... ORPHA:477817
Systemic Sclerosis
Myocarditis, Right ventricular failure, Syncope, Calcinosis cutis, Pericarditis, Telangiectasia, ... ORPHA:90291
Oligomeganephronia
Branchial cyst, Optic disc coloboma ORPHA:2260
Simple Cryoglobulinemia
Hypertension, Pericarditis, Abnormal heart morphology, Nephritis, Arthritis, Raynaud phenomenon, ... ORPHA:91139
Microsporidiosis
Myocarditis, Cholangitis, Sinusitis, Infectious encephalitis, Pneumonia, Endocarditis, Lymphadeni... ORPHA:2552
Squalene Synthase Deficiency
Bicuspid aortic valve OMIM:618156
Isotretinoin-Like Syndrome
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Aortic valve st... ORPHA:2306
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Mitral regurgitation OMIM:617168
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Peritonitis, Myositis, Fasciitis, Arthritis, Vasculitis, Uveitis, Skin rash, Orchit... ORPHA:32960
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Beh├žet Disease
Retrobulbar optic neuritis, Cerebral ischemia, Optic neuritis, Gastrointestinal hemorrhage, Vascu... ORPHA:117
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Optic nerve hypoplasia, Cystic hygroma, Increased nuchal translucency ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Optic nerve hypoplasia, Cystic hygroma, Increased nuchal translucency ORPHA:352665
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Mitral valve calcification, Ventricu... ORPHA:363618
Aicardi-Goutieres Syndrome 9
Hypertension, Pericarditis, Pericardial effusion, Increased blood pressure, Left ventricular hype... OMIM:619487
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, At... OMIM:121050
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Juvenile Dermatomyositis
Pericarditis, Myositis, Telangiectasia of the skin, Cardiomyopathy, Arthritis, Bundle branch bloc... ORPHA:93672
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Bicuspid aortic valve, Aortic valve stenosis OMIM:614501
Brucellosis
Myocarditis, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Abnormal aortic valv... ORPHA:1304
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... OMIM:619381
Zygomycosis
Myocarditis, Sinusitis, Pericarditis, Infectious encephalitis, Pustule, Endocarditis, Peritonitis... ORPHA:73263
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Listeriosis
Myocarditis, Pericarditis, Infectious encephalitis, Pustule, Endocarditis, Pneumonia, Peritonitis... ORPHA:533
Colchicine Poisoning
Myocarditis, Cardiogenic shock, Congestive heart failure, Hypovolemia, Arrhythmia, Hypotension ORPHA:31824
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Intrauterine growth retardation, Truncus arteriosus ORPHA:261330
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Parotitis, Acute pancreatitis, Diffuse alveolar hemorrh... ORPHA:99827
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Hypertension, Aortic regurgitation, Cardiomegaly, Transient ischemic attac... ORPHA:91387
Shigellosis
Myocarditis, Hypovolemic shock, Pneumonia, Peritonitis, Acute colitis, Arthritis, Uveitis, Ulcera... ORPHA:810
Loeys-Dietz Syndrome 4
Eosinophilic infiltration of the esophagus, Bicuspid aortic valve, Mitral valve prolapse OMIM:614816
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Aortic regurgitation, Arthritis, Oste... ORPHA:29207
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Cardiac total anomalous pulmonary... OMIM:608978
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Pulmonary arterial hypertension, ... OMIM:100300
Familial Mediterranean Fever
Pericarditis, Peritonitis, Arthritis, Pancreatitis, Myocardial infarction, Vasculitis, Skin rash,... ORPHA:342
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Lujo Hemorrhagic Fever
Myocarditis, Shock, Subconjunctival hemorrhage, Rhinitis, Fulminant hepatitis, Bradycardia, Macul... ORPHA:319213
Kleefstra Syndrome
Bicuspid aortic valve, Ventricular septal defect, Chronic otitis media, Tetralogy of Fallot, Arrh... ORPHA:261494
Gm1 Gangliosidosis Type 1
Beaking of vertebral bodies T12-L3, Exaggerated startle response, Platyspondyly, Hypoplastic vert... ORPHA:79255
Nocardiosis
Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Lymphadenitis, Peritonitis, Osteo... ORPHA:31204
Visceral Steatosis, Congenital
Myocardial steatosis OMIM:228100
Granulomatosis With Polyangiitis
Sinusitis, Hypertension, Pericarditis, Prostatitis, Chronic otitis media, Epistaxis, Pancreatitis... ORPHA:900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Retinal neovascularization, Macular edema, Retinal cotton w... ORPHA:247691
Treacher-Collins Syndrome
Branchial fistula, Patent ductus arteriosus ORPHA:861
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Hypertension, Myocarditis, Hypertrophic cardiomyopathy, Esophagitis, Tela... ORPHA:3342
Giant Cell Arteritis
Pericarditis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... ORPHA:397
X Small Rings
Bicuspid aortic valve, Ventricular septal defect, Mitral stenosis ORPHA:96201
Progeroid Short Stature With Pigmented Nevi
Allergic conjunctivitis, Bicuspid aortic valve, Aortic valve stenosis, Allergic rhinitis OMIM:176690
Amoebiasis Due To Entamoeba Histolytica
Congestive heart failure, Constrictive pericarditis, Acute colitis, Abnormal pericardium morphology ORPHA:67
Koolen-De Vries Syndrome
Bicuspid aortic valve, Abnormal cardiac septum morphology ORPHA:96169
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve OMIM:300707
Koolen-De Vries Syndrome
Bicuspid aortic valve, Eczema, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:610443
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Syndromic Diarrhea
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Aortic regurgitation... ORPHA:84064
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:610759
Dermatomyositis
Myocarditis, Chondrocalcinosis, Pericarditis, Pulmonary arterial hypertension, Telangiectasia of ... ORPHA:221
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... ORPHA:466677
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Hypertension, Mitral valve prolapse, Mitral regurgitation, Aortic regurgit... OMIM:611962
Familial Mediterranean Fever
Pericarditis, Peritonitis, Arthritis, Crohn's disease, Orchitis, Erysipelas OMIM:249100
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Mitral valve calcification, Bronchiectasis, Stippled calcification in ... ORPHA:60025
Lateral Meningocele Syndrome
Bicuspid aortic valve OMIM:130720
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... OMIM:245600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Spinal rigidity, Scoliosis, Exaggerated startle response OMIM:253800
Coccidioidomycosis
Pericarditis, Folliculitis, Pneumonia, Peritonitis, Vasospasm, Panniculitis, Arthritis, Cerebral ... ORPHA:228123
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Aortic valve stenosis, Mitral regurgitation OMIM:613563
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve... OMIM:265380
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Palpitations, Cardiomyopathy, Myocardial infarction, Abnormal left ven... ORPHA:892
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Tubulointerstitial nephritis, Pericarditis, Urinary bladder... ORPHA:449395
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Atrioventricular canal defe... ORPHA:508498
Marfan Syndrome
Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, Mitral annular calcification,... OMIM:154700
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Kyphosis OMIM:617527
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Kyphosis ORPHA:521426
Branchiooculofacial Syndrome
Intrauterine growth retardation, Facial palsy, Branchial anomaly, Low posterior hairline, Short neck OMIM:113620
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Mitral valve prolapse, Bicuspid pulmonary valve, Eosinophilic infiltration... OMIM:609192
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Bicuspid aortic valve, Cerebral hemorrhage, Antenatal intracerebral hemorrhage, Sub... ORPHA:536545
Blau Syndrome
Abnormal inflammatory response, Hypertension, Pericarditis, Synovitis, Posterior uveitis, Retrobu... ORPHA:90340
Leptospirosis
Pericarditis, Subconjunctival hemorrhage, Hepatitis, Pulmonary hemorrhage, Optic neuritis, Uveiti... ORPHA:509
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Frontometaphyseal Dysplasia 2
Bicuspid aortic valve, Patent foramen ovale, Ulcerative colitis, Pulmonic stenosis OMIM:617137
Marburg Hemorrhagic Fever
Shock, Pericarditis, Subconjunctival hemorrhage, Arthritis, Tachycardia, Bradycardia, Pancreatiti... ORPHA:99826
Infection-Related Hemolytic Uremic Syndrome