Gene Summary

Name:
small nuclear ribonucleoprotein 200 (U5)
Synonyms:
Ascc3l1,  HELIC2,  U5-200KD,  A330064G03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Snrnp200tm1b(KOMP)Mbp HET Early adult 0.00
embryonic lethality prior to organogenesis Snrnp200tm1b(KOMP)Mbp HOM   E9.5 0.00
preweaning lethality, complete penetrance Snrnp200tm1b(KOMP)Mbp HOM   Early adult 0.00
increased monocyte cell number Snrnp200tm1b(KOMP)Mbp HET Early adult 3.64×10-05
exophthalmos Snrnp200tm1b(KOMP)Mbp HET Early adult 9.53×10-06
impaired pupillary reflex Snrnp200tm1b(KOMP)Mbp HET Early adult 8.53×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote Not available
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas 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)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus 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 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote Not available
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 50% (1 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

14 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Snrnp200 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 Snrnp200 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Snrnp200 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Tetralogy Of Fallot
Proptosis, Tetralogy of Fallot OMIM:187500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Ethanolaminosis
Cardiomegaly OMIM:227150
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Cherubism
Marcus Gunn pupil, Macular scar, Proptosis, Optic neuropathy OMIM:118400
Acute Zonal Occult Outer Retinopathy
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... ORPHA:284454
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia OMIM:616871
Non-Syndromic Bicoronal Craniosynostosis
Hypertelorism, Proptosis ORPHA:35099
Cherubism
Optic atrophy, Proptosis ORPHA:184
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Tetralogy Of Fallot
Proptosis, Tetralogy of Fallot ORPHA:3303
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Kleeblattschaedel
Proptosis OMIM:148800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Proptosis, Retinopathy, Macular atrophy, Optic disc pallor OMIM:616171
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Proptosis ORPHA:411493
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis OMIM:619644
Multiple Synostoses Syndrome 3
Proptosis OMIM:612961
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Proptosis, Abnormal cardiac septum morphology ORPHA:2370
Cinca Syndrome
Anemia, Proptosis, Leukocytosis, Papilledema, Hepatosplenomegaly, Eosinophilia OMIM:607115
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Microcephaly 5, Primary, Autosomal Recessive
Proptosis OMIM:608716
Crouzon Syndrome With Acanthosis Nigricans
Hypertelorism, Proptosis OMIM:612247
Holoprosencephaly 11
Hypotelorism, Proptosis, Polysplenia OMIM:614226
Frias Syndrome
Hypertelorism, Proptosis OMIM:609640
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Proptosis OMIM:618492
Stickler Syndrome Type 1
Retinal detachment, Abnormal vitreous humor morphology, Proptosis, Mitral valve prolapse ORPHA:90653
Autosomal Recessive Distal Osteolysis Syndrome
Proptosis ORPHA:2776
Vascular Malformation, Primary Intraosseous
Proptosis, Hypochromic anemia OMIM:606893
Developmental And Epileptic Encephalopathy 48
Rod-cone dystrophy, Proptosis, Optic disc pallor OMIM:617276
Spinocerebellar Ataxia Type 3
Dystonia, Proptosis ORPHA:98757
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Cardiomyopathy, Proptosis, Hypertelorism, Optic disc pallor OMIM:618437
Filippi Syndrome
Optic atrophy, Ventricular septal defect, Dystonia, Proptosis OMIM:272440
Lethal Osteosclerotic Bone Dysplasia
Proptosis ORPHA:1832
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Juvenile Nasopharyngeal Angiofibroma
Proptosis ORPHA:289596
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal heart morphology, Atrial septal defect, Hypertelorism, Proptosis ORPHA:352490
Cinca Syndrome
Hepatomegaly, Anemia, Proptosis, Leukocytosis, Abnormal granulocyte morphology, Splenomegaly, Abn... ORPHA:1451
Pontocerebellar Hypoplasia, Type 3
Optic atrophy, Proptosis, Optic disc pallor OMIM:608027
Hypophosphatasia, Childhood
Proptosis OMIM:241510
Donnai-Barrow Syndrome
Retinal dystrophy, Retinal detachment, Proptosis, Ventricular septal defect, Hypertelorism ORPHA:2143
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect, Proptosis, Hypotelorism OMIM:605321
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Proptosis ORPHA:85172
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... OMIM:620135
Periventricular Nodular Heterotopia 7
Proptosis, Deeply set eye, Ventricular septal defect, Hypertelorism, Optic disc pallor OMIM:617201
Optic Pathway Glioma
Optic atrophy, Papilledema, Proptosis ORPHA:2086
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonic ... OMIM:612541
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Proptosis OMIM:617481
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune t... OMIM:620565
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Intellectual Developmental Disorder, Autosomal Dominant 26
Hypertelorism, Proptosis OMIM:615834
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Optic atrophy, Proptosis OMIM:618346
Attrv30M Amyloidosis
Cardiomegaly, Vitreous floaters, Cardiomyopathy ORPHA:85447
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hypertelorism, Proptosis ORPHA:93262
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Hypertelorism, Proptosis ORPHA:1914
Congenital Toxoplasmosis
Hepatomegaly, Anemia, Abnormality of retinal pigmentation, Thrombocytopenia, Cardiomegaly ORPHA:858
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale, Proptosis OMIM:618821
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypertelorism, Proptosis OMIM:618577
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
Prolidase Deficiency
Hepatomegaly, Anemia, Proptosis, Thrombocytopenia, Splenomegaly, Hypertelorism OMIM:170100
Ichthyosis, Congenital, Autosomal Recessive 4B
Proptosis OMIM:242500
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Deeply set eye, Hepatomegaly OMIM:619064
Crouzon Syndrome
Optic atrophy, Hypertelorism, Proptosis ORPHA:207
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Desbuquois Syndrome
Ventricular septal defect, Proptosis ORPHA:1425
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Hypertelorism, Proptosis ORPHA:2165
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Splenomegaly, Cherr... OMIM:256550
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Hypertelorism OMIM:618652
Hyperostosis Cranialis Interna
Optic atrophy, Proptosis OMIM:144755
Teebi Hypertelorism Syndrome 2
Hypertelorism, Proptosis OMIM:619736
Caffey Disease
Proptosis ORPHA:1310
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Hypertelorism, Proptosis OMIM:618961
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Hypertelorism, Pigment... OMIM:253250
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Deeply set eye, Proptosis OMIM:618707
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Atrial septal defect, Hypertelorism, Proptosis OMIM:618354
Jackson-Weiss Syndrome
Hypertelorism, Proptosis ORPHA:1540
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Proptosis ORPHA:157965
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Pericardial effusion, Dystonia, Cardiomegaly OMIM:614702
Infantile Sialic Acid Storage Disease
Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly OMIM:269920
Tyshchenko Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Proptosis OMIM:615102
Microhydranencephaly
Athetosis, Proptosis OMIM:605013
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Hypertelorism, Proptosis OMIM:263210
Long-Olsen-Distelmaier Syndrome
Optic nerve hypoplasia, Ventricular septal defect, Secundum atrial septal defect, Cardiomegaly, D... OMIM:620609
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Chitayat Syndrome
Hypertelorism, Proptosis OMIM:617180
Cutis Laxa, Autosomal Recessive, Type Iie
Proptosis OMIM:619451
Ritscher-Schinzel Syndrome 4
Hypotelorism, Athetosis, Proptosis, Deeply set eye, Hypertelorism OMIM:619435
Multicentric Carpotarsal Osteolysis Syndrome
Proptosis OMIM:166300
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Optic atrophy, Hypertelorism, Proptosis, Hyposegmentation of neutrophil nuclei OMIM:614800
Muenke Syndrome
Hypertelorism, Proptosis OMIM:602849
Sickle Cell Disease
Hepatomegaly, Splenic infarction, Leukocytosis, Retinopathy, Target cells, Splenomegaly, Cardiome... OMIM:603903
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Proptosis ORPHA:2522
Thanatophoric Dysplasia
Atrial septal defect, Proptosis ORPHA:2655
Pediatric-Onset Graves Disease
Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Tremor, Proptosis, Thrombocyt... ORPHA:525731
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Proptosis, Tetralogy of Fallot, Ventricular septal defect, Hypertelorism ORPHA:1908
Thanatophoric Dysplasia Type 2
Atrial septal defect, Proptosis ORPHA:93274
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Proptosis, Leuk... OMIM:259720
Chromosome 5P13 Duplication Syndrome
Hypertelorism, Proptosis, Hypotelorism OMIM:613174
Jackson-Weiss Syndrome
Proptosis OMIM:123150
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Proptosis, Ventricular septal defect, Aortic valve... ORPHA:363705
Spinocerebellar Ataxia-Dysmorphism Syndrome
Optic atrophy, Proptosis ORPHA:1185
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Crouzon Syndrome
Optic atrophy, Hypertelorism, Proptosis, Shallow orbits OMIM:123500
Chondrodysplasia With Joint Dislocations, Gpapp Type
Proptosis OMIM:614078
Microcephaly 3, Primary, Autosomal Recessive
Proptosis OMIM:604804
Prolidase Deficiency
Hepatomegaly, Proptosis, Abnormality of retinal pigmentation, Splenomegaly, Hypertelorism ORPHA:742
Graves Disease
Proptosis OMIM:275000
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypertelorism, Proptosis OMIM:109120
Marshall-Smith Syndrome
Optic atrophy, Hypertelorism, Proptosis ORPHA:561
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... ORPHA:85451
Muenke Syndrome
Hypertelorism, Proptosis ORPHA:53271
Marbach-Rustad Progeroid Syndrome
Ventricular septal hypertrophy, Shallow orbits, Proptosis, Intention tremor OMIM:619322
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Proptosis, Splenomegaly, Hypertelorism, Hypersplenism OMIM:613385
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Proptosis, Retinal hemorrhage, Splenomegaly, Abnormal retinal va... ORPHA:33226
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Proptosis OMIM:274300
Donnai-Barrow Syndrome
Retinal dystrophy, Retinal detachment, Proptosis, Ventricular septal defect, Hypertelorism OMIM:222448
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Dystonia, Cardiomegaly, Retinal degeneration, Choreoa... ORPHA:391428
Ogden Syndrome
Ventricular septal defect, Proptosis, Torticollis ORPHA:276432
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Hypertelorism, Proptosis OMIM:602482
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Hypertelorism, Proptosis ORPHA:254346
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Proptosis OMIM:615381
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Hepatomegaly, Anemia, Optic nerve compression, Proptosis, Splenomegaly OMIM:612301
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Proptosis OMIM:617895
Chops Syndrome
Optic atrophy, Patent foramen ovale, Proptosis, Ventricular septal defect, Anomalous pulmonary ve... OMIM:616368
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Acrofrontofacionasal Dysostosis 2
Hypertelorism, Proptosis OMIM:239710
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Anemia, Proptosis, Thrombocytopenia, Left ventricular hypertrophy, Hypertelorism OMIM:611209
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Proptosis ORPHA:352582
Shashi-Pena Syndrome
Atrial septal defect, Hypertelorism, Proptosis OMIM:617190
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proptosis ORPHA:2774
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Proptosis, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral valve prolap... OMIM:602782
Trisomy 12P
Hypertelorism, Proptosis ORPHA:1699
Wyburn-Mason Syndrome
Retinal vascular malformation, Proptosis ORPHA:53719
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Proptosis, Optic disc coloboma ORPHA:1790
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Hypertelorism, Proptosis OMIM:620250
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Atrial septal defect, Hypertelorism, Proptosis ORPHA:261311
Whipple Disease
Myocarditis, Hepatomegaly, Anemia, Proptosis, Pericarditis, Splenomegaly ORPHA:3452
Craniosynostosis 4
Optic nerve hypoplasia, Hypertelorism, Proptosis OMIM:600775
Pseudo-Torch Syndrome 3
Cardiomegaly, Anemia, Leukocytosis, Congenital thrombocytopenia OMIM:618886
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatomegaly, Hypertelorism, Proptosis, Shallow orbits ORPHA:73230
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Retinal degeneration, Rod-cone dystrophy OMIM:266500
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Acrocardiofacial Syndrome
Truncus arteriosus, Proptosis, Ventricular septal defect, Mitral stenosis, Tetralogy of Fallot, A... ORPHA:2008
Restrictive Dermopathy 2
Proptosis OMIM:619793
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Proptosis, Splenomegaly, Ventricular septal defect, Hypertelorism OMIM:235255
Melnick-Needles Syndrome
Hypertelorism, Proptosis, Abnormal cardiac septum morphology ORPHA:2484
Machado-Joseph Disease
Dystonia, Proptosis OMIM:109150
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Developmental And Epileptic Encephalopathy 80
Hypertelorism, Proptosis, Optic disc pallor OMIM:618580
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Proptosis ORPHA:440354
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Hypertelorism, Proptosis OMIM:618529
Bohring-Opitz Syndrome
Proptosis, Abnormal optic nerve morphology, Atrial septal defect, Ventricular septal defect, Hype... OMIM:605039
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Proptosis, Mitral valve prolapse, Left ventricular h... OMIM:245600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Proptosis, T lymphocytopenia, Decreas... ORPHA:508533
Familial Gestational Hyperthyroidism
Hand tremor, Proptosis ORPHA:99819
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Proptosis, Hepatosplenomegaly... ORPHA:228426
Mucolipidosis Type Iii Alpha/Beta
Proptosis, Right ventricular hypertrophy ORPHA:423461
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Machado-Joseph Disease Type 1
Dystonia, Proptosis ORPHA:276238
Machado-Joseph Disease Type 2
Dystonia, Proptosis ORPHA:276241
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Marshall Syndrome
Abnormal vitreous humor morphology, Retinal detachment, Vitreoretinopathy, Proptosis, Hypertelorism ORPHA:560
Cole-Carpenter Syndrome 2
Hypertelorism, Proptosis OMIM:616294
ERI1-related disease
Ventricular septal defect, Abnormal heart morphology, Proptosis OMIM:608739
Pfeiffer Syndrome Type 1
Hypertelorism, Proptosis ORPHA:93258
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Kniest Dysplasia
Retinal detachment, Vitreoretinopathy, Proptosis, Lattice retinal degeneration, Degenerative vitr... ORPHA:485
Congenital Myopathy 22A, Classic
Deeply set eye, Proptosis OMIM:620351
Kniest Dysplasia
Retinal detachment, Proptosis OMIM:156550
Sclerosteosis 1
Optic atrophy, Papilledema, Hypertelorism, Proptosis OMIM:269500
Lowry-Maclean Syndrome
Atrioventricular canal defect, Proptosis ORPHA:2409
Atelosteogenesis Type I
Hypertelorism, Proptosis, Retinal dysplasia ORPHA:1190
Thanatophoric Dysplasia Type 1
Atrial septal defect, Proptosis ORPHA:1860
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Cole-Carpenter Syndrome 1
Proptosis, Shallow orbits OMIM:112240
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Proptosis ORPHA:424
Distal Deletion 9P
Hypertelorism, Proptosis ORPHA:1642
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Hypertelorism, Proptosis ORPHA:1555
Machado-Joseph Disease Type 3
Dystonia, Proptosis ORPHA:276244
Cardiofaciocutaneous Syndrome 1
Optic nerve dysplasia, Proptosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Splenomegaly, A... OMIM:115150
Acrocraniofacial Dysostosis
Hypertelorism, Proptosis ORPHA:949
Double Outlet Left Ventricle
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... ORPHA:3427
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Proptosis ORPHA:1323
Lateral Meningocele Syndrome
Ventricular septal defect, Hypertelorism, Proptosis ORPHA:2789
Cenani-Lenz Syndrome
Hypertelorism, Proptosis ORPHA:3258
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Hypertelorism, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616897
Desbuquois Dysplasia 1
Proptosis OMIM:251450
Hennekam-Beemer Syndrome
Optic atrophy, Proptosis, Mastocytosis ORPHA:2135
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Hemochromatosis, Type 1
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Antley-Bixler Syndrome
Hypertelorism, Proptosis ORPHA:83
Distal Deletion 10Q
Atrial septal defect, Proptosis, Hypotelorism ORPHA:96148
Saul-Wilson Syndrome
Proptosis, Neutropenia OMIM:618150
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
H Syndrome
Enlarged kidney, Proptosis, Hepatosplenomegaly, Histiocytosis, Microcytic anemia ORPHA:168569
Trichohepatoenteric Syndrome 1
Hepatomegaly, Thrombocytosis, Proptosis, Ventricular septal defect, Pulmonic stenosis, Increased ... OMIM:222470
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Baller-Gerold Syndrome
Abnormal cardiac septum morphology, Hypertelorism, Proptosis, Hypotelorism ORPHA:1225
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Dyssegmental Dysplasia, Silverman-Handmaker Type
Abnormal heart morphology, Proptosis ORPHA:1865
Otospondylomegaepiphyseal Dysplasia
Proptosis ORPHA:1427
Alg9-Cdg
Atrial septal defect, Enlarged kidney, Hepatomegaly, Torticollis, Abnormal left ventricular outfl... ORPHA:79328
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Xylt1-Cdg
Hepatomegaly, Proptosis ORPHA:370930
Premature Aging Syndrome, Penttinen Type
Hypotelorism, Proptosis, Shallow orbits, Hypermyelinated retinal nerve fibers, Hypertelorism OMIM:601812
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Optic nerve hypoplasia, Shallow orbits, Proptosis, Intention tremor OMIM:620029
Peripheral Primitive Neuroectodermal Tumor
Proptosis, Anemia, Torticollis ORPHA:370348
2Q31.1 Microdeletion Syndrome
Proptosis, Optic disc coloboma, Atrial septal defect, Ventricular septal defect, Hypertelorism ORPHA:251014
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Ventricular hypertrophy, Leukocytosis, Reticulocytosis, P... OMIM:618278
Marfanoid-Progeroid-Lipodystrophy Syndrome
Deeply set eye, Proptosis, Mitral valve prolapse OMIM:616914
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Hepatosplenomegaly, Cherry red spot of the macula, Ca... OMIM:268800
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Thrombocytopenia, Opisthotonus, Splenomegaly, Hepatosplenomegaly, Cardiomeg... OMIM:608013
20Q11.2 Microduplication Syndrome
Lingual dystonia, Proptosis ORPHA:363659
Dysostosis, Stanescu Type
Hypertelorism, Proptosis ORPHA:1798
Juvenile Xanthogranuloma
Myeloproliferative disorder, Proptosis ORPHA:158000
Short Stature With Microcephaly And Distinctive Facies
Anisopoikilocytosis, Anemia, Proptosis OMIM:615789
Dural Sinus Malformation
Papilledema, Proptosis ORPHA:97339
Donohue Syndrome
Proptosis OMIM:246200
Multiple Pterygium-Malignant Hyperthermia Syndrome
Proptosis, Hypotelorism ORPHA:2215
Bohring-Opitz Syndrome
Optic atrophy, Retinal atrophy, Proptosis, Cardiomegaly, Hypertelorism, Abnormal cardiac septum m... ORPHA:97297
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Tremor, Proptosis, Dystonia, Deeply set eye, Hypertelorism OMIM:300966
Holoprosencephaly 3
Cyclopia, Proptosis, Hypotelorism OMIM:142945
Metaphyseal Chondrodysplasia, Jansen Type
Hypertelorism, Proptosis OMIM:156400
Apert Syndrome
Optic atrophy, Hypertelorism, Proptosis ORPHA:87
Mogs-Cdg
Optic atrophy, Hepatomegaly, Dystonia, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hyp... ORPHA:79330
Bainbridge-Ropers Syndrome
Deeply set eye, Hypertelorism, Proptosis OMIM:615485
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Proptosis OMIM:207410
Prader-Willi Syndrome Due To Translocation
Hypotelorism, Patent foramen ovale, Proptosis, Abnormal heart morphology, Deeply set eye, Hyperte... ORPHA:177907
Craniotubular Dysplasia, Ikegawa Type
Optic atrophy, Optic nerve compression, Proptosis, Ventricular septal defect, Optic neuropathy, H... OMIM:619727
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Cardiomyopathy, Intention tremor, Cardiomegaly, Amyloid deposition in the vitreous humor OMIM:105210
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Atrial septal defect, Ventricular septal defect, Proptosis OMIM:620663
Fibrochondrogenesis 1
Patent foramen ovale, Proptosis OMIM:228520
Loeys-Dietz Syndrome 5
Patent foramen ovale, Proptosis, Atrial septal defect, Ventricular septal defect, Hypertelorism OMIM:615582
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... ORPHA:324410
Ogden Syndrome
Left atrial enlargement, Atrial septal defect, Perimembranous ventricular septal defect, Enlarged... OMIM:300855
Camurati-Engelmann Disease
Proptosis, Anemia, Optic nerve compression OMIM:131300
Fibrochondrogenesis
Hypertelorism, Proptosis ORPHA:2021
Shprintzen-Goldberg Craniosynostosis Syndrome
Hypertelorism, Proptosis, Mitral valve prolapse, Shallow orbits OMIM:182212
Neuroblastoma
Thrombocytopenia, Anemia, Proptosis ORPHA:635
Neu-Laxova Syndrome 2
Hypertelorism, Proptosis OMIM:616038
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Hypertelorism, Proptosis OMIM:123790
Pycnodysostosis
Hepatosplenomegaly, Proptosis ORPHA:763
Frank-Ter Haar Syndrome
Patent foramen ovale, Proptosis, Ventricular septal defect, Secundum atrial septal defect, Mitral... OMIM:249420
Pfeiffer Syndrome Type 2
Hypertelorism, Proptosis ORPHA:93259
Robinow Syndrome, Autosomal Dominant 2
Hypertelorism, Proptosis OMIM:616331
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Proptosis OMIM:215150
Robinow Syndrome, Autosomal Dominant 3
Patent foramen ovale, Proptosis, Hypoplastic right heart, Ventricular septal defect, Hypertelorism OMIM:616894
Erdheim-Chester Disease
Abnormal pericardium morphology, Abnormal aortic valve morphology, Anemia, Proptosis ORPHA:35687
Cerebrotendinous Xanthomatosis
Optic atrophy, Resting tremor, Proptosis, Optic neuropathy, Abnormal atrial septum morphology, Dy... ORPHA:909
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Proptosis ORPHA:85184
Shprintzen-Goldberg Syndrome
Hypertelorism, Proptosis, Mitral valve prolapse, Abnormal aortic valve morphology ORPHA:2462
Cole-Carpenter Syndrome
Proptosis ORPHA:2050
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Camurati-Engelmann Disease
Optic atrophy, Hepatomegaly, Anemia, Optic nerve compression, Proptosis, Hypertrophic cardiomyopa... ORPHA:1328
Pfeiffer Syndrome Type 3
Hypertelorism, Proptosis ORPHA:93260
Congenital Myopathy 22B, Severe Fetal
Deeply set eye, Hepatomegaly, Proptosis OMIM:620369
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Dystonia, Splenomegaly, Cherry red spot of the macula, Card... OMIM:230000
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Proptosis OMIM:619234
Pontocerebellar Hypoplasia, Type 10
Proptosis OMIM:615803
Neu-Laxova Syndrome
Hypertelorism, Opisthotonus, Proptosis ORPHA:2671
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Optic nerve hypoplasia, Proptosis, Pulmonic stenosis, Aortic val... ORPHA:536471
Apert Syndrome
Proptosis, Shallow orbits, Overriding aorta, Ventricular septal defect, Hypertelorism OMIM:101200
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Proptosis, Hepatosplenomegaly, Hypertelorism, Optic disc pallor ORPHA:309282
Mandibuloacral Dysplasia With Type B Lipodystrophy
Proptosis OMIM:608612
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypertelorism, Proptosis, Mitral valve prolapse OMIM:259600
Localized Scleroderma
Deeply set eye, Proptosis ORPHA:90289
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent foramen ovale, Hypertelorism, Proptosis ORPHA:457395
Cornelia De Lange Syndrome 1
Optic atrophy, Proptosis, Thrombocytopenia, Optic disc coloboma, Ventricular septal defect OMIM:122470
Lethal Congenital Contracture Syndrome 10
Torticollis, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Zygomycosis
Myocarditis, Neutropenia, Retinal arterial occlusion, Retinal detachment, Splenic abscess, Propto... ORPHA:73263
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Proptosis, Right atrial enlargement OMIM:614008
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:201475
Campomelic Dysplasia
Hypertelorism, Proptosis ORPHA:140
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Proptosis, Pancreatic hyperplasia, Cardiomegaly OMIM:130650
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomyopathy, Cardiomegaly OMIM:619259
Marshall-Smith Syndrome
Optic nerve hypoplasia, Proptosis, Dysplastic aortic valve, Shallow orbits, Atrial septal defect,... OMIM:602535
Desbuquois Dysplasia 2
Proptosis OMIM:615777
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Proptosis, Peripapillary atrophy, Torticollis, Mitral valve prolapse ORPHA:536467
Noonan Syndrome
Juvenile myelomonocytic leukemia, Hepatomegaly, Proptosis, Hypertrophic cardiomyopathy, Abnormali... ORPHA:648
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Proptosis OMIM:615349
Autosomal Recessive Robinow Syndrome
Abnormal tricuspid valve morphology, Proptosis, Tetralogy of Fallot, Atrial septal defect, Ventri... ORPHA:1507
Kosaki Overgrowth Syndrome
Proptosis OMIM:616592
Wolf-Hirschhorn Syndrome
Optic atrophy, Abnormal heart valve morphology, Proptosis, Retinopathy, Atrial septal defect, Hyp... ORPHA:280
Oculoectodermal Syndrome
Atrial septal defect, Chorioretinal atrophy, Proptosis, Hypertrophic cardiomyopathy OMIM:600268
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypotelorism, Optic nerve hypoplasia, Proptosis, Attenuation of retinal blood vessels, Optic disc... ORPHA:468631
Retinoblastoma
Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Proptosis, Abnor... ORPHA:790
Fanconi Anemia
Abnormal aortic valve morphology, Anemia, Proptosis, Hypertrophic cardiomyopathy, Thrombocytopeni... ORPHA:84
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Proptosis, Thrombocytopenia, Atrial septal defect, Ventricular septal defect ORPHA:163979
Degcags Syndrome
Hepatomegaly, Anemia, Iron deficiency anemia, Hypotelorism, Pancytopenia, Dysplastic pulmonary va... OMIM:619488
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Ventricular septal defect, Atrial septal defect, Hypertelorism, Proptosis OMIM:620558
Robinow Syndrome
Pulmonary valve atresia, Tricuspid atresia, Proptosis, Ventricular septal defect, Pulmonic stenos... ORPHA:97360
Hyperthyroidism, Nonautoimmune
Proptosis OMIM:609152
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Patent foramen ovale, Proptosis, Mitral valve calcification, Shallow orbits, Elevat... OMIM:619127
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Proptosis, Hypertelorism ORPHA:264200
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Meier-Gorlin Syndrome 7
Atrial septal defect, Ventricular septal defect, Proptosis, Complete atrioventricular canal defect OMIM:617063
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Torticollis, Proptosis, Ventricular septal defect, Intention tremor, Head titub... OMIM:619475
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly ORPHA:465508
Granulomatosis With Polyangiitis
Retinopathy, Pericarditis, Proptosis, Granulomatosis ORPHA:900
Arboleda-Tham Syndrome
Optic atrophy, Atrial septal defect, Proptosis, Pulmonic stenosis, Dystonia, Secundum atrial sept... OMIM:616268
Raine Syndrome
Hypertelorism, Proptosis OMIM:259775
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Hypertelorism, Proptosis ORPHA:2211
Okamoto Syndrome
Abnormal left ventricle morphology, Primum atrial septal defect, Proptosis, Ventricular septal de... ORPHA:2729
Proboscis Lateralis
Cyclopia, Optic nerve hypoplasia, Proptosis, Ventricular septal defect, Chorioretinal coloboma, O... ORPHA:141099
Smith-Lemli-Opitz Syndrome
Optic atrophy, Atrioventricular canal defect, Proptosis, Ventricular septal defect, Atrial septal... ORPHA:818
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Atelosteogenesis, Type I
Hypertelorism, Proptosis OMIM:108720
Keppen-Lubinsky Syndrome
Opisthotonus, Proptosis, Shallow orbits OMIM:614098
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Optic atrophy, Proptosis, Chorioretinal coloboma OMIM:210730
Mandibuloacral Dysplasia With Type A Lipodystrophy
Proptosis ORPHA:90153
Congenital Myopathy 17
Proptosis OMIM:618975
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Anemia, Increased B cell count, Leukocytosis, Increased T cell count, Hepatosplenom... OMIM:620376
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Proptosis, Visceromegaly, Hypertrophic cardiomyopathy, Choroiderem... ORPHA:116
Mandibuloacral Dysplasia With Type B Lipodystrophy
Proptosis ORPHA:90154
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Anemia, Lymphocytosis, Patent foramen ovale, Proptosis, Th... OMIM:619991
Rubinstein-Taybi Syndrome 1
Atrial septal defect, Perimembranous ventricular septal defect, Accessory spleen, Patent foramen ... OMIM:180849
Melnick-Needles Syndrome
Tricuspid valve prolapse, Hypertelorism, Proptosis, Mitral valve prolapse OMIM:309350
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Proptosis OMIM:248370
Catel-Manzke Syndrome
Dextrocardia, Proptosis, Overriding aorta, Ventricular septal defect, Hypertelorism OMIM:616145
Specc1L-Related Hypertelorism Syndrome
Proptosis, Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Hypertelorism ORPHA:1519
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Hypertelorism ORPHA:2463
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Proptosis, Iron deficiency anemia ORPHA:93315
Osteoglophonic Dysplasia
Hypertelorism, Proptosis, Shallow orbits OMIM:166250
Keppen-Lubinsky Syndrome
Opisthotonus, Proptosis, Shallow orbits ORPHA:435628
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Enlarged kidney, Hepatomegaly, Dilated cardiomyopathy OMIM:608836
Mucopolysaccharidosis Type 3
Optic atrophy, Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, ... ORPHA:581
Igg4-Related Dacryoadenitis And Sialadenitis
Proptosis, Thrombocytopenia, Optic nerve compression, Abnormal optic nerve morphology ORPHA:79078
Pseudoaminopterin Syndrome
Patent foramen ovale, Hypertelorism, Proptosis, Asplenia ORPHA:221120
Meester-Loeys Syndrome
Hypertelorism, Proptosis, Mitral valve prolapse OMIM:300989
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Proptosis, Thrombocytopenia, Splenomegaly, Cardiomegaly, Microcytic anemia OMIM:256040
Toriello-Lacassie-Droste Syndrome
Proptosis ORPHA:3339
Robinow Syndrome, Autosomal Recessive 1
Abnormal heart morphology, Hypertelorism, Proptosis OMIM:268310
X-Linked Intellectual Disability, Snyder Type
Hypertelorism, Proptosis ORPHA:3063
Abetalipoproteinemia
Hepatomegaly, Anemia, Reticulocytosis, Abnormality of retinal pigmentation, Cardiomegaly, Hypopig... ORPHA:14
Osteogenesis Imperfecta, Type Viii
Proptosis OMIM:610915
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Hypertelorism, Proptosis OMIM:617011
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Proptosis OMIM:271640
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Schinzel-Giedion Syndrome
Proptosis, Shallow orbits, Abnormal heart morphology, Hypertelorism, Myeloid leukemia ORPHA:798
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect OMIM:614921
Isolated Exencephaly
Proptosis ORPHA:563612
Yunis-Varon Syndrome
Cardiomyopathy, Proptosis, Tetralogy of Fallot, Cardiomegaly, Atrial septal defect, Ventricular s... ORPHA:3472
Roberts Syndrome
Hypertelorism, Thrombocytopenia, Proptosis ORPHA:3103
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology, Proptosis ORPHA:444077
Mullegama-Klein-Martinez Syndrome
Apical muscular ventricular septal defect, Proptosis, Hypoplastic left heart OMIM:301022
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:308552
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Hypertelorism, Proptosis, Shallow orbits ORPHA:457359
Holoprosencephaly 2
Cyclopia, Hypotelorism, Proptosis, Remnants of the hyaloid vascular system, Chorioretinal colobom... OMIM:157170
Fontaine Progeroid Syndrome
Proptosis, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve, Atrial... OMIM:612289
Stickler Syndrome
Abnormal vitreous humor morphology, Retinal detachment, Proptosis, Lattice retinal degeneration, ... ORPHA:828
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hypertelo... OMIM:252500
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Proptosis ORPHA:85199
Wiedemann-Rautenstrauch Syndrome
Hypotelorism, Proptosis, Hypoplasia of the thymus, Intention tremor, Secundum atrial septal defec... OMIM:264090
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Retinal arterial tortuosity, Cardiomegaly, Splenic cyst, Retinal detachment, Patent foramen ovale... OMIM:620371
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Hypertelorism, Proptosis OMIM:130070
17Q11 Microdeletion Syndrome
Retinal vascular proliferation, Proptosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnorm... ORPHA:97685
Viss Syndrome
Atrial septal defect, Retinal detachment, Patent foramen ovale, Right ventricular dilatation, Pro... OMIM:619472
Blomstrand Lethal Chondrodysplasia
Proptosis ORPHA:50945
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology ORPHA:228308
Meningioma
Papilledema, Proptosis ORPHA:2495
Elsahy-Waters Syndrome
Increased cup-to-disc ratio, Hypertelorism, Proptosis OMIM:211380
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Autosomal Dominant Robinow Syndrome
Hypertelorism, Proptosis ORPHA:3107
Loeys-Dietz Syndrome 2
Patent foramen ovale, Proptosis, Bicuspid pulmonary valve, Mitral valve prolapse, Bicuspid aortic... OMIM:610168
Loeys-Dietz Syndrome 1
Proptosis, Bicuspid pulmonary valve, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal ... OMIM:609192
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Hypertelorism, Cardiomegaly ORPHA:91387
Neurofibromatosis Type 1
Proptosis, Abnormality of retinal pigmentation, Chorioretinal coloboma, Chronic myelogenous leuke... ORPHA:636
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Tremor, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:300967
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:232300
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect, Shallow orbits ORPHA:96191
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Muscular ventricular septal defect, Patent foramen ovale, Proptosis, Tetralogy of Fallot, Atrial ... OMIM:210710
Branchioskeletogenital Syndrome
Hypertelorism, Proptosis ORPHA:1299
Orofaciodigital Syndrome Type 4
Hypertelorism, Proptosis ORPHA:2753
Neu-Laxova Syndrome 1
Transposition of the great arteries, Patent foramen ovale, Proptosis, Ventricular septal defect, ... OMIM:256520
Wolf-Hirschhorn Syndrome
Accessory spleen, Proptosis, Atrial septal defect, Ventricular septal defect, Hypertelorism OMIM:194190
Proteus Syndrome
Retinal hamartoma, Enlarged kidney, Retinal nonattachment, Proptosis, Enlarged polycystic ovaries... ORPHA:744
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Tremor, Hypertrophic cardiomyop... ORPHA:51
Cutis Laxa, Autosomal Recessive, Type Ib
Right ventricular dilatation, Hypertelorism, Proptosis OMIM:614437
Histiocytoid Cardiomyopathy
Optic atrophy, Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:137675
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Proptosis, Pulmonic stenosis, Mitral valve prolapse, Left ventricular hy... OMIM:613795
Fetal Akinesia Deformation Sequence 1
Hypertelorism, Proptosis OMIM:208150
Craniosynostosis And Dental Anomalies
Papilledema, Hypertelorism, Proptosis OMIM:614188
Robinow Syndrome, Autosomal Dominant 1
Hypertelorism, Proptosis OMIM:180700
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypertelorism, Proptosis OMIM:271665
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii