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 3.30×10-05
preweaning lethality, complete penetrance Notch1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal vertebrae morphology Notch1tm1b(EUCOMM)Hmgu HET Early adult 3.29×10-05
increased startle reflex Notch1tm1b(EUCOMM)Hmgu HET Early adult 2.75×10-12

Download data as:  TSV  XLS

Select physiological systems to view:
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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

OPT E9.5

Embryo reconstruction

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Adult LacZ

LacZ Images Wholemount

27 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Echo

M-Mode Images

32 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
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve stenosis, Aortic valve calcification OMIM:114065
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 24
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... OMIM:615897
Congenital Aortic Valve Stenosis
Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,... ORPHA:3093
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae OMIM:616566
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... OMIM:615513
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy... OMIM:613424
Singleton-Merten Syndrome 2
Aortic valve stenosis, Aortic valve calcification, Arrhythmia OMIM:616298
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Familial Bicuspid Aortic Valve
Heart murmur, Bicuspid aortic valve, Abnormal left ventricular outflow tract morphology, Hyperten... ORPHA:402075
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... OMIM:614980
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Growth delay, Splenomegaly OMIM:619164
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Atrial Septal Defect 9
Pulmonary arterial hypertension, Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Gaucher Disease, Type Iiic
Mitral stenosis, Calcification of the aorta, Cardiomegaly, Aortic valve calcification, Mitral val... OMIM:231005
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... OMIM:300400
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly ORPHA:3180
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Alkaptonuria
Prostatitis, Arthritis, Calcification of cartilage, Abnormal heart valve morphology, Hypertension... ORPHA:56
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... OMIM:618987
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Cervical spondylosis, Spondylolisthesis OMIM:184300
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncomp... OMIM:612158
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased circulating total IgM, T lymphocytopenia, Lymphopeni... OMIM:619510
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... OMIM:616201
Alkaptonuria
Arthritis, Aortic valve calcification, Mitral valve calcification, Coronary artery calcification OMIM:203500
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Aortic Valve Disease 3
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect OMIM:618496
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Short stat... OMIM:607271
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, B lymphocytopenia, T lymphocytopenia, Lymphopenia, Absence of lymph node... ORPHA:277
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... ORPHA:169154
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, Perianal abscess, Decreased circulating ant... OMIM:618108
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis OMIM:241550
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... OMIM:300853
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Irregular vertebral endplates, Schmorl's node, Platyspondyly OMIM:604864
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia OMIM:601457
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... OMIM:617222
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... ORPHA:859
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Hypoplastic left heart, Aortic valve st... OMIM:615779
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... OMIM:600802
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Vertebral segmentation defect, Hemivertebrae, Short neck OMIM:608681
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Pancytopenia, Postnatal growth retardation OMIM:600546
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia OMIM:247610
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... OMIM:616636
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Short stature, Abnormal cardiac septum morphology, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Decreased circulating total IgM, Decreased... OMIM:301082
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia OMIM:205950
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 70
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... OMIM:133780
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... OMIM:609813
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Gaucher Disease Type 3
Pulmonary arterial hypertension, Pericardial effusion, Abnormal heart valve morphology, Aortic va... ORPHA:77261
Immunodeficiency 68
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess OMIM:612260
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... OMIM:314400
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... OMIM:618534
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegaly, Lymp... OMIM:242700
Cardiac Valvular Dysplasia 2
Subvalvular aortic stenosis, Systolic heart murmur, Pulmonary insufficiency, Left ventricular dia... OMIM:620067
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Anemia, Thrombocytopenia, Intrauterine growth retardation ORPHA:295
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... ORPHA:3092
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebrae ORPHA:2064
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Cor... ORPHA:1330
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Intrauterine growt... OMIM:615190
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Left Ventricular Noncompaction 1
Ventricular septal defect, Left ventricular hypertrophy, Noncompaction cardiomyopathy, Left ventr... OMIM:604169
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Elevated proportion of CD4-negative, CD8-neg... OMIM:601859
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation ORPHA:1296
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Shor... OMIM:616005
Eosinophilia, Familial
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Diamond-Blackfan Anemia 16
Anemia, Pulmonic stenosis, Atrial septal defect OMIM:617408
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve ORPHA:228190
Hutchinson-Gilford Progeria Syndrome
Pulmonary arterial hypertension, Ventricular hypertrophy, Left ventricular diastolic dysfunction,... ORPHA:740
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... ORPHA:35078
Gaucher Disease
Abnormal pericardium morphology, Pulmonary arterial hypertension, Osteomyelitis, Hepatitis, Osteo... ORPHA:355
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
Aortic Valve Disease 2
Patent foramen ovale, Bicuspid aortic valve, Calcification of the aorta, Aortic regurgitation, Mi... OMIM:614823
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Dilated cardiomyopathy OMIM:611283
Immunodeficiency By Defective Expression Of Mhc Class Ii
Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased lymphocyte prolif... ORPHA:572
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Short stature, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Grow... OMIM:615631
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation OMIM:609054
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... ORPHA:331206
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pulmonary arterial hypertension, Bacterial endocarditis, Spontaneous, recurrent epistaxis, Calcif... ORPHA:2072
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Bicuspid aortic valve, Hypertension, Atrial septal defect OMIM:613355
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve OMIM:604381
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Immunodeficiency 40
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Eosinophilic granuloma, Growth ... OMIM:616433
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia, Short stature, Decreased circulating IgA le... OMIM:242860
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... OMIM:620135
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... OMIM:619774
Immunodeficiency 17
Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo... OMIM:615607
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Immunodeficiency 54
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Short stature, Lymphadenop... OMIM:609981
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... OMIM:606367
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Short stature, Post... OMIM:615925
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia, Intrauterine growt... OMIM:615966
Atypical Werner Syndrome
Chondrocalcinosis, Mitral valve prolapse, Congestive heart failure, Hypertension, Subcutaneous ca... ORPHA:79474
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen... OMIM:613011
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cell... ORPHA:443811
Congenital Gerbode Defect
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... ORPHA:99095
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Malar rash, Arthritis OMIM:609939
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... ORPHA:276
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... ORPHA:563
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect, Recurrent skin infections OMIM:617744
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Decreased circulating antibody level, Pancytopenia, Abnormally low T cell receptor excision circl... OMIM:619767
Diamond-Blackfan Anemia 9
Anemia, Growth delay OMIM:613308
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia OMIM:133180
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Aortic arch calcification, Congestive heart failure, Aortic valve st... OMIM:182250
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Increased circulating IgE lev... OMIM:243700
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Neonatal death, Hepatosplenomegaly OMIM:273680
Rheumatic Fever
Endocarditis, Abnormal mitral valve morphology, Arthritis, Abnormal aortic valve morphology, Peri... ORPHA:3099
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Short statur... OMIM:613673
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Double outlet right ventricle, Bicuspid aortic valve OMIM:618845
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Immunodeficiency 55
Short stature, Lymphopenia, Lymphadenopathy, Intrauterine growth retardation, Neutropenia, Absent... OMIM:617827
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... OMIM:193220
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthritis, Constrictive pericarditis OMIM:208250
Sneddon Syndrome
Hypertension, Bicuspid aortic valve, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Aorta Coarctation
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... ORPHA:1457
Systemic Lupus Erythematosus
Malar rash, Arthritis, Nephritis, Pericarditis, Lupus nephritis OMIM:152700
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Aortic Arch Interruption
Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary window, Truncus... ORPHA:2299
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the ovary, Decreased pr... ORPHA:543
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia OMIM:206100
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Reduction of neutrophil motility, Abnormally low T ... OMIM:608203
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Patent foramen ovale, Right ventricular outlet tract obstruct... ORPHA:99094
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev... OMIM:615758
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve, Arthritis OMIM:619825
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:616501
Acute Erythroid Leukemia
Erythroid hypoplasia, Leukopenia, Anemia, Pancytopenia ORPHA:318
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... ORPHA:1686
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Pancytop... ORPHA:79124
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Yao Syndrome
Ventricular hypertrophy, Inflammatory abnormality of the skin, Skin rash, Arthritis, Keratoconjun... OMIM:617321
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Short stature, Decreased circulating IgG2 level, Acu... OMIM:208900
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia, Total anomalous pulmonary venous return OMIM:618313
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence of pericardium, Atrial sept... ORPHA:2847
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Immune-Mediated Necrotizing Myopathy
Skin rash, Raynaud phenomenon, Congestive heart failure, Myositis, Palpitations, Myocarditis ORPHA:206569
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Mitral valve prolapse, Pericarditis, Mitral regurgitation, Osteoarthritis of the elbow, Increased... ORPHA:2848
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Scoliosis, Kyphosis OMIM:609541
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Intrauterine growth retardation OMIM:618838
Bleeding Disorder, Platelet-Type, 16
Anemia, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Thrombocytopenia OMIM:187800
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Rat-Bite Fever
Endocarditis, Septic arthritis, Lymphadenitis, Oligoarthritis, Maculopapular exanthema, Erythema ... ORPHA:31205
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Mild postnatal growth retardation, Erythroid hyperplasia, Reticulocytosis, Macr... OMIM:224120
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly ORPHA:1131
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Skin rash, Anterior uveitis, Juvenile rheumatoid arthritis ORPHA:85414
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Pulmonic stenosis, Bicuspid aortic valve, Atrial septal defect OMIM:619149
Polymyositis
Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Arthritis, Dilated cardio... ORPHA:732
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Acute myeloid leukemia, Secundum atrial septal defect, Anemia OMIM:223350
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased testicular size, Hypoplasia of the ovary, Decreased propor... ORPHA:66628
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Eczema, Recurrent otitis ... ORPHA:500159
American Trypanosomiasis
Skin rash, Congestive heart failure, Arrhythmia, Infectious encephalitis, Myocarditis, Cardiomyop... ORPHA:3386
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Microscopic Polyangiitis
Episcleritis, Skin rash, Arthritis, Congestive heart failure, Uveitis, Pericarditis, Epistaxis, S... ORPHA:727
Thymic Aplasia
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Coombs-positive hem... ORPHA:83471
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Hepatitis, Cardiac arrest, Thyroiditis, Skin rash, Interstitial pne... ORPHA:139402
Hb Bart'S Hydrops Fetalis
Anemia, Hydrocephalus, Pericarditis, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Growth delay, Hypochromia, Splenomegaly OMIM:615234
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased testicular size, Hypoplasia of the ovary, Decreased propor... ORPHA:179494
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Bicuspid aortic valve, Abnormal aortic valve morphology, Atrial se... ORPHA:1120
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Abnormal pericardium morphology, Tubulointerstitial nephritis, Transient ischemic a... ORPHA:183
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Eczema, Recurrent otitis media, Recurrent pneum... OMIM:617751
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Hypertension, Cardiomyopathy ORPHA:767
Systemic Capillary Leak Syndrome
Hypotension, Pericarditis, Arrhythmia, Myocarditis, Pancreatitis ORPHA:188
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension ORPHA:401923
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Atrioventricular canal defect, Pulmonary valve atresia, Ventricu... ORPHA:210122
Vici Syndrome
Leukopenia, Decreased T cell activation, T lymphocytopenia, Decreased circulating IgG2 level, Lym... OMIM:242840
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... ORPHA:284169
Scedosporiosis
Endocarditis, Septic arthritis, Osteomyelitis, Ectopic calcification, Pericarditis, Sinusitis, Pn... ORPHA:449280
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Stiff Person Spectrum Disorder
Exaggerated startle response, Lumbar hyperlordosis ORPHA:3198
Drug-Induced Lupus Erythematosus
Malar rash, Pericardial effusion, Pericarditis, Serositis, Prolonged QTc interval ORPHA:231111
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Scrub Typhus
Hypotension, Skin rash, Infectious encephalitis, Myocarditis, Anterior uveitis ORPHA:83317
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Neonatal death, Intrauterine growth retardation, Cardiomyopathy OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Anemia, Neonatal death, Intrauterine growth retardation OMIM:618835
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Catastrophic Antiphospholipid Syndrome
Pulmonary arterial hypertension, Pulmonary embolism, Arterial occlusion, Transient ischemic attac... ORPHA:464343
Heart Block, Congenital
Myocardial calcification, Cardiomyopathy, Absent atrioventricular node, Myocardial fibrosis OMIM:234700
Branchiootic Syndrome
Branchial fistula, Facial palsy ORPHA:52429
Adult-Onset Still Disease
Hepatitis, Skin rash, Arthritis, Pericarditis, Myocarditis ORPHA:829
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, Aortic regurgitation, Mitr... ORPHA:555877
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Bicuspid aortic valve, Abnormal left ventricular function OMIM:132900
Sick Sinus Syndrome 2
Mitral valve prolapse, Left ventricular hypertrophy, Left ventricular noncompaction OMIM:163800
Bacterial Toxic-Shock Syndrome
Hypotension, Septic arthritis, Osteomyelitis, Hepatitis, Skin rash, Fasciitis, Arthritis, Periton... ORPHA:36234
Relapsing Polychondritis
Conjunctivitis, Recurrent aphthous stomatitis, Scleritis, Large vessel vasculitis, Arthritis, Inf... ORPHA:728
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Reticulocytosis, Bone marrow hypocellularity, Eosinophilia, Dec... ORPHA:3261
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Scoliosis ORPHA:320406
Antisynthetase Syndrome
Pulmonary arterial hypertension, Skin rash, Keratoconjunctivitis sicca, Myositis, Aortic regurgit... ORPHA:81
Bor Syndrome
Branchial cyst, Facial palsy ORPHA:107
Legionnaires Disease
Endocarditis, Hypotension, Hepatitis, Pericarditis, Arrhythmia, Infectious encephalitis, Myocardi... ORPHA:549
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Bicuspid aortic valve, Eczema, Atrial septal defect OMIM:619721
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:617450
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Decreased response to growth hormone stimulation test, T lymphocytopeni... OMIM:618223
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Branchial anomaly, Abnormal autonomic nervous system physiology, Increased nuchal translucency, I... ORPHA:453499
Scleroderma
Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Myelitis, Osteomyelitis, Gastroin... ORPHA:801
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Facial palsy OMIM:113650
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect, Recurrent otitis media OMIM:618027
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Decreased circulating total IgM, Decreased lymphocyte proliferation in respons... ORPHA:508533
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Persistent fetal circulation, Ventricular septal defect, Pericar... ORPHA:363705
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Bicuspid aortic valve, Abnormal cardiac septum morphology OMIM:615009
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased circulating total IgM, Reduced natural killer cell acti... OMIM:301000
Cantu Syndrome
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve OMIM:239850
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Short stature, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased m... ORPHA:98870
Holoprosencephaly
Spinal dysraphism, Encephalocele, Branchial anomaly, Optic atrophy, Hydrocephalus, Holoprosenceph... ORPHA:2162
Whipple Disease
Hypotension, Arthritis, Uveitis, Pericarditis, Myositis, Myocardial infarction, Gastrointestinal ... ORPHA:3452
Grange Syndrome
Bicuspid aortic valve, Coronary artery stenosis, Renovascular hypertension OMIM:602531
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Felty Syndrome
Rhinitis, Arthritis, Synovitis, Pericarditis, Recurrent pneumonia, Sinusitis, Episcleritis, Chron... ORPHA:47612
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Reticulocytosis, P... ORPHA:288
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Short stature, Neoplasm of the pancreas, Delayed puberty, Microcytic anemia ORPHA:2959
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Short stature OMIM:617243
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, B lymphocytopenia, Short stature, Neutropenia in presence of anti-neutropil an... ORPHA:391487
Q Fever
Endocarditis, Maculopapular exanthema, Osteomyelitis, Pericardial effusion, Hepatitis, Pericardit... ORPHA:781
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve OMIM:619641
Mixed Connective Tissue Disease
Pulmonary arterial hypertension, Skin rash, Arthritis, Keratoconjunctivitis sicca, Pericarditis, ... ORPHA:809
Congenital Enterovirus Infection
Hypotension, Pericardial effusion, Skin rash, Hepatitis, Infectious encephalitis, Myocarditis, Ca... ORPHA:292
Nijmegen Breakage Syndrome
T lymphocytopenia, B lymphocytopenia, Short stature, Autoimmune hemolytic anemia, Dysgammaglobuli... OMIM:251260
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... OMIM:618619
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Lumbar hyperlordosis OMIM:184850
Thymic Tumor
Pericarditis, Cardiac arrest ORPHA:100100
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Short stature, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenopathy, Neut... OMIM:607944
Chromosome 1P36 Deletion Syndrome, Proximal
Patent foramen ovale, Ventricular septal defect, Coronary artery fistula, Bicuspid aortic valve, ... OMIM:619343
Blau Syndrome
Erythema nodosum, Iritis, Arthritis, Synovitis, Eczema, Uveitis, Hypertension, Pericarditis, Nong... OMIM:186580
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect, Atrial septal defect ORPHA:329224
Kawasaki Disease
Conjunctivitis, Hepatitis, Skin rash, Arthritis, Abnormal heart valve morphology, Congestive hear... ORPHA:2331
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve OMIM:243310
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Hearing impairment OMIM:619074
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Systemic Sclerosis
Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Gastrointestinal telangiectasia, ... ORPHA:90291
Distal 22Q11.2 Microduplication Syndrome
Patent ductus arteriosus, Webbed neck, Hydrocephalus, Low posterior hairline, Optic disc coloboma... ORPHA:261337
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, De... OMIM:619381
Simple Cryoglobulinemia
Arthritis, Raynaud phenomenon, Membranoproliferative glomerulonephritis, Congestive heart failure... ORPHA:91139
Oligomeganephronia
Branchial cyst, Optic disc coloboma ORPHA:2260
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Microsporidiosis
Endocarditis, Lymphadenitis, Rhinitis, Osteomyelitis, Prostatitis, Keratoconjunctivitis, Hepatiti... ORPHA:2552
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Optic nerve hypoplasia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Optic nerve hypoplasia ORPHA:352665
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Conjunctivitis, Skin rash, Fasciitis, Arthritis, Uveitis, Erysipelas, Pericarditis, Myositis, Orc... ORPHA:32960
Beh├žet Disease
Keratoconjunctivitis sicca, Pericarditis, Myositis, Retrobulbar optic neuritis, Endocarditis, Pul... ORPHA:117
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Mi... OMIM:121050
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Mitral regurgitation OMIM:617168
Juvenile Dermatomyositis
Mucosal telangiectasiae, Skin rash, Arthritis, Telangiectasia of the skin, Vasculitis, Angina pec... ORPHA:93672
Squalene Synthase Deficiency
Bicuspid aortic valve OMIM:618156
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Intrauterine growth retardation, Truncus arteriosus ORPHA:261330
Reactive Arthritis
Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Enthesitis, Arthritis, Pericarditis... ORPHA:29207
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Congestive heart failure, Hypertension, Mitral ... ORPHA:363618
Aicardi-Goutieres Syndrome 9
Pericardial effusion, Chilblains, Left ventricular hypertrophy, Hypertension, Cerebral calcificat... OMIM:619487
Zygomycosis
Endocarditis, Enterocolitis, Hepatitis, Fasciitis, Peritonitis, Nephritis, Pericarditis, Epistaxi... ORPHA:73263
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Beaking of vertebral bodies T12-L3, Hypoplastic vertebral bodies, P... ORPHA:79255
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Brucellosis
Endocarditis, Sacroiliac arthritis, Septic arthritis, Osteomyelitis, Hip osteoarthritis, Transien... ORPHA:1304
Meacham Syndrome
Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Common atrium, Bi... OMIM:608978
Isotretinoin-Like Syndrome
Conotruncal defect, Bicuspid aortic valve, Aortic valve stenosis, Abnormal cardiac ventricle morp... ORPHA:2306
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Listeriosis
Endocarditis, Septic arthritis, Conjunctivitis, Osteomyelitis, Infectious encephalitis, Pyeloneph... ORPHA:533
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Double outlet right ventricle, Ventricular septal defect OMIM:616652
Colchicine Poisoning
Hypotension, Hypovolemia, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis ORPHA:31824
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Atrial septal defect OMIM:619720
Shigellosis
Conjunctivitis, Arthritis, Ulcerative colitis, Uveitis, Hypovolemic shock, Pneumonia, Peritonitis... ORPHA:810
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abn... ORPHA:457279
Treacher-Collins Syndrome
Patent ductus arteriosus, Branchial fistula, Encephalocele ORPHA:861
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Pericardial effusion, Abnormal left ventricular function, Subdural h... ORPHA:99827
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Mitral valve prolapse, Eosinophilic infiltration of the esophagus OMIM:614816
Lujo Hemorrhagic Fever
Hypotension, Maculopapular exanthema, Rhinitis, Fulminant hepatitis, Skin rash, Subconjunctival h... ORPHA:319213
Familial Mediterranean Fever
Skin rash, Arthritis, Erysipelas, Pericarditis, Myocardial infarction, Arrhythmia, Peritonitis, O... ORPHA:342
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Tremor OMIM:618056
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Arterial Tortuosity Syndrome
Cardiac arrest, Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypertrophic card... ORPHA:3342
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Hypovolemia, Transient ischemic attack, Bicuspid aortic valve, Hypertension, Aor... ORPHA:91387
Giant Cell Arteritis
Sudden cardiac death, Cerebral ischemia, Arthritis, Pericarditis, Epistaxis, Arrhythmia, Double o... ORPHA:397
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Visceral Steatosis, Congenital
Myocardial steatosis OMIM:228100
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal neovascularization, Retinal cotton wool spot, Macular edema, Abnormal retinal vascular mo... ORPHA:247691
Nocardiosis
Endocarditis, Lymphadenitis, Conjunctivitis, Osteomyelitis, Scleritis, Thyroiditis, Peritonitis, ... ORPHA:31204
Granulomatosis With Polyangiitis
Prostatitis, Cerebral ischemia, Skin rash, Inflammatory abnormality of the eye, Angina pectoris, ... ORPHA:900
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Tetralogy of Fallot, Chronic otitis... ORPHA:261494
Adams-Oliver Syndrome 1
Pulmonary arterial hypertension, Ventricular septal defect, Bicuspid aortic valve, Hypertension, ... OMIM:100300
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Eczema, Atrial septal defect, Pulmonic stenosis OMIM:610443
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Spinal rigidity, Exaggerated startle response, Scoliosis OMIM:253800
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
X Small Rings
Mitral stenosis, Bicuspid aortic valve, Ventricular septal defect ORPHA:96201
Koolen-De Vries Syndrome
Bicuspid aortic valve, Abnormal cardiac septum morphology ORPHA:96169
Dermatomyositis
Pulmonary arterial hypertension, Sinus tachycardia, Arthritis, Telangiectasia of the skin, Perica... ORPHA:221
Scorpion Envenomation
T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression... ORPHA:466677
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:610759
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Allergic conjunctivitis, Bicuspid aortic valve, Allergic rhinitis OMIM:176690
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia, Kyphosis ORPHA:521426
8Q24.3 Microdeletion Syndrome
Patent ductus arteriosus, Truncus arteriosus, Optic nerve hypoplasia, Spina bifida occulta, Short... ORPHA:508488
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Familial Mediterranean Fever
Crohn's disease, Arthritis, Erysipelas, Pericarditis, Orchitis, Peritonitis OMIM:249100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Coccidioidomycosis
Osteomyelitis, Cerebral ischemia, Folliculitis, Erythema nodosum, Skin rash, Arthritis, Morbillif... ORPHA:228123
Syndromic Diarrhea
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Aortic regurgitation, Gas... ORPHA:84064
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Mitral valve prolapse, Hypertension, Aortic regurgitation, Premature osteo... OMIM:611962
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary arterial hypertension, Atrioventricular canal defect, Patent foramen ovale, Pulmonary v... OMIM:265380
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:130720