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Gene: Snrnp200 MGI:2444401

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Snrnp200tm1b(KOMP)Mbp HOM   Early adult 0.00
embryonic lethality prior to organogenesis Snrnp200tm1b(KOMP)Mbp HOM   E9.5 0.00
impaired pupillary reflex Snrnp200tm1b(KOMP)Mbp HET   Early adult 2.16×10-05
enlarged heart Snrnp200tm1b(KOMP)Mbp HET Early adult 0.00
exophthalmos Snrnp200tm1b(KOMP)Mbp HET Early adult 1.02×10-05
increased monocyte cell number Snrnp200tm1b(KOMP)Mbp HET Early adult 3.64×10-05

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 0.67% (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.

Adult LacZ

LacZ Images Wholemount

14 Images

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Embryo LacZ

LacZ images wholemount

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:791

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
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Tetralogy Of Fallot
Tetralogy of Fallot, Proptosis OMIM:187500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Ethanolaminosis
Cardiomegaly OMIM:227150
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Hepatomegal... OMIM:614470
Cherubism
Macular scar, Proptosis, Optic neuropathy, Marcus Gunn pupil OMIM:118400
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... ORPHA:284454
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Leukopenia, Acute myeloid leukemia, Refractory anemia OMIM:616871
Non-Syndromic Bicoronal Craniosynostosis
Hypertelorism, Proptosis ORPHA:35099
Cherubism
Proptosis, Optic atrophy ORPHA:184
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Tetralogy Of Fallot
Tetralogy of Fallot, Proptosis ORPHA:3303
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Kleeblattschaedel
Proptosis OMIM:148800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Macular atrophy, Proptosis, Optic disc pallor OMIM:616171
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Pontocerebellar Hypoplasia Type 10
Proptosis, Optic atrophy ORPHA:411493
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Multiple Synostoses Syndrome 3
Proptosis OMIM:612961
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Hepatomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Cinca Syndrome
Anemia, Hepatosplenomegaly, Proptosis, Leukocytosis, Eosinophilia, Papilledema OMIM:607115
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Proptosis, Abnormal cardiac septum morphology ORPHA:2370
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Microcephaly 5, Primary, Autosomal Recessive
Proptosis OMIM:608716
Holoprosencephaly 11
Polysplenia, Proptosis, Hypotelorism OMIM:614226
Crouzon Syndrome With Acanthosis Nigricans
Hypertelorism, Proptosis OMIM:612247
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Stickler Syndrome Type 1
Retinal detachment, Abnormal vitreous humor morphology, Mitral valve prolapse, Proptosis ORPHA:90653
Frias Syndrome
Hypertelorism, Proptosis OMIM:609640
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Proptosis OMIM:618492
Vascular Malformation, Primary Intraosseous
Proptosis, Hypochromic anemia OMIM:606893
Filippi Syndrome
Dystonia, Ventricular septal defect, Optic atrophy, Proptosis OMIM:272440
Autosomal Recessive Distal Osteolysis Syndrome
Proptosis ORPHA:2776
Juvenile Nasopharyngeal Angiofibroma
Proptosis ORPHA:289596
Spinocerebellar Ataxia Type 3
Dystonia, Proptosis ORPHA:98757
Lethal Osteosclerotic Bone Dysplasia
Proptosis ORPHA:1832
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Hypertelorism, Proptosis, Optic disc pallor, Cardiomyopathy OMIM:618437
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Hepatomegaly, Eosinophilia, Impaired oxidative burst, Thromb... OMIM:226990
Developmental And Epileptic Encephalopathy 48
Rod-cone dystrophy, Proptosis, Optic disc pallor OMIM:617276
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Hypophosphatasia, Childhood
Proptosis OMIM:241510
Cinca Syndrome
Anemia, Pseudopapilledema, Abnormal granulocyte morphology, Abnormality of neutrophils, Retrobulb... ORPHA:1451
Frontoocular Syndrome
Hypotelorism, Pulmonic stenosis, Atrial septal defect, Proptosis OMIM:605321
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertelorism, Abnormal heart morphology, Atrial septal defect, Proptosis ORPHA:352490
Pontocerebellar Hypoplasia, Type 3
Optic disc pallor, Proptosis, Optic atrophy OMIM:608027
Donnai-Barrow Syndrome
Ventricular septal defect, Retinal dystrophy, Hypertelorism, Proptosis, Retinal detachment ORPHA:2143
Osteolysis Syndrome, Recessive
Proptosis OMIM:259610
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Proptosis ORPHA:85172
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Pulmonic stenosis, Secundum atria... OMIM:612541
Optic Pathway Glioma
Papilledema, Proptosis, Optic atrophy ORPHA:2086
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... OMIM:620135
Periventricular Nodular Heterotopia 7
Deeply set eye, Ventricular septal defect, Hypertelorism, Proptosis, Optic disc pallor OMIM:617201
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Proptosis, Optic atrophy OMIM:617481
Vitamin K Antagonist Embryofetopathy
Hypertelorism, Proptosis, Optic atrophy ORPHA:1914
Intellectual Developmental Disorder, Autosomal Dominant 26
Hypertelorism, Proptosis OMIM:615834
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypertelorism, Proptosis, Optic atrophy ORPHA:93262
Attrv30M Amyloidosis
Cardiomegaly, Vitreous floaters, Cardiomyopathy ORPHA:85447
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Proptosis, Optic atrophy OMIM:618346
Congenital Toxoplasmosis
Anemia, Abnormality of retinal pigmentation, Hepatomegaly, Cardiomegaly, Thrombocytopenia ORPHA:858
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale, Proptosis OMIM:618821
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypertelorism, Proptosis OMIM:618577
Ichthyosis, Congenital, Autosomal Recessive 4B
Proptosis OMIM:242500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... OMIM:618986
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Deeply set eye, Hepatomegaly OMIM:619064
Microhydranencephaly
Athetosis, Proptosis OMIM:605013
Desbuquois Syndrome
Ventricular septal defect, Proptosis ORPHA:1425
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Crouzon Syndrome
Hypertelorism, Proptosis, Optic atrophy ORPHA:207
Holoprosencephaly-Caudal Dysgenesis Syndrome
Hypertelorism, Proptosis, Cyclopia ORPHA:2165
Neuraminidase Deficiency
Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Cherry ... OMIM:256550
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Proptosis, Abnormal cardiac septum morphology OMIM:301022
Hyperostosis Cranialis Interna
Proptosis, Optic atrophy OMIM:144755
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy OMIM:617713
Prolidase Deficiency
Anemia, Hypertelorism, Proptosis, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:170100
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Hypertelorism, Proptosis OMIM:618961
Caffey Disease
Proptosis ORPHA:1310
Mulibrey Nanism
Pericardial constriction, Myocardial fibrosis, Hypertelorism, Hepatomegaly, Cardiomegaly, Pigment... OMIM:253250
Teebi Hypertelorism Syndrome 2
Hypertelorism, Proptosis OMIM:619736
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Abnormal heart morphology, Proptosis ORPHA:93359
Jackson-Weiss Syndrome
Hypertelorism, Proptosis ORPHA:1540
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Muscular ventricular septal defect, Hypertelorism, Proptosis, Atrial septal defect OMIM:618354
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Proptosis ORPHA:157965
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Hypertelorism, Cardiomegaly OMIM:618652
Tyshchenko Syndrome
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Proptosis OMIM:615102
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Dystonia OMIM:614702
Gillessen-Kaesbach-Nishimura Syndrome
Hypertelorism, Abnormal heart morphology, Proptosis OMIM:263210
Infantile Sialic Acid Storage Disease
Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly OMIM:269920
Muenke Syndrome
Hypertelorism, Proptosis OMIM:602849
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Deeply set eye, Proptosis OMIM:618707
Cutis Laxa, Autosomal Recessive, Type Iie
Proptosis OMIM:619451
Ritscher-Schinzel Syndrome 4
Deeply set eye, Hypertelorism, Proptosis, Athetosis, Hypotelorism OMIM:619435
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Hypertelorism, Proptosis, Optic atrophy OMIM:614800
Multicentric Carpotarsal Osteolysis Syndrome
Proptosis OMIM:166300
Sickle Cell Disease
Retinopathy, Hemolytic anemia, Target cells, Splenic infarction, Increased red cell sickling tend... OMIM:603903
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Proptosis, Abnormal reticulocyte morphology ORPHA:2522
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Tremor, Proptosis, Hepatomegaly, Thrombocyt... ORPHA:525731
Chitayat Syndrome
Hypertelorism, Proptosis OMIM:617180
Thanatophoric Dysplasia
Proptosis, Atrial septal defect ORPHA:2655
Aminopterin/Methotrexate Embryofetopathy
Ventricular septal defect, Hypertelorism, Situs inversus totalis, Proptosis, Tetralogy of Fallot ORPHA:1908
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Autosomal Dominant Cerebellar Ataxia
Postural tremor, Resting tremor, Retinal degeneration, Macular degeneration, Choreoathetosis, Tor... ORPHA:99
Thanatophoric Dysplasia Type 2
Proptosis, Atrial septal defect ORPHA:93274
Craniofaciofrontodigital Syndrome
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Hyp... ORPHA:363705
Graves Disease, Susceptibility To, 1
Proptosis OMIM:275000
Osteopetrosis, Autosomal Recessive 5
Anemia, Optic atrophy, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hypochromi... OMIM:259720
Chromosome 5P13 Duplication Syndrome
Hypertelorism, Proptosis, Hypotelorism OMIM:613174
Chondrodysplasia With Joint Dislocations, Gpapp Type
Proptosis OMIM:614078
Spinocerebellar Ataxia-Dysmorphism Syndrome
Proptosis, Optic atrophy ORPHA:1185
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Jackson-Weiss Syndrome
Proptosis OMIM:123150
Acrocraniofacial Dysostosis
Proptosis, Hypotelorism OMIM:201050
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... ORPHA:860
Prolidase Deficiency
Abnormality of retinal pigmentation, Hypertelorism, Proptosis, Hepatomegaly, Splenomegaly ORPHA:742
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypertelorism, Proptosis OMIM:109120
Microcephaly 3, Primary, Autosomal Recessive
Proptosis OMIM:604804
Muenke Syndrome
Hypertelorism, Proptosis ORPHA:53271
Crouzon Syndrome
Hypertelorism, Shallow orbits, Proptosis, Optic atrophy OMIM:123500
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertroph... ORPHA:85451
Marshall-Smith Syndrome
Hypertelorism, Proptosis, Optic atrophy ORPHA:561
Familial Atrial Myxoma
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma ORPHA:615
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Proptosis OMIM:274300
Waldenström Macroglobulinemia
Retinal hemorrhage, Leukemia, Normocytic anemia, Abnormality of neutrophils, Proptosis, Hepatomeg... ORPHA:33226
Marbach-Rustad Progeroid Syndrome
Shallow orbits, Intention tremor, Ventricular septal hypertrophy, Proptosis OMIM:619322
Donnai-Barrow Syndrome
Ventricular septal defect, Retinal dystrophy, Hypertelorism, Proptosis, Retinal detachment OMIM:222448
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Proptosis OMIM:617895
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypersplenism, Pancytopenia, Hypertelorism, Proptosis, Hepatomegaly, Splenomegaly OMIM:613385
Osteopetrosis, Autosomal Recessive 7
Anemia, Optic nerve compression, Optic atrophy, Proptosis, Hepatomegaly, Splenomegaly OMIM:612301
Acrofrontofacionasal Dysostosis 2
Hypertelorism, Proptosis OMIM:239710
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Proptosis, Hepatomegaly OMIM:615381
Chops Syndrome
Patent foramen ovale, Ventricular septal defect, Optic atrophy, Anomalous pulmonary venous return... OMIM:616368
19P13.12 Microdeletion Syndrome
Hypertelorism, Ventricular septal defect, Atrial septal defect, Proptosis ORPHA:254346
Axenfeld-Rieger Syndrome, Type 3
Hypertelorism, Proptosis, Atrial septal defect OMIM:602482
Ogden Syndrome
Torticollis, Ventricular septal defect, Proptosis ORPHA:276432
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Left ventricular hypertrophy, Hypertelorism, Proptosis, Giant platelets, Thrombocytopenia OMIM:611209
Timothy Syndrome
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect OMIM:601005
Wyburn-Mason Syndrome
Retinal vascular malformation, Proptosis ORPHA:53719
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proptosis ORPHA:2774
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Atrial septal defect, Hepato... OMIM:602782
Trisomy 12P
Hypertelorism, Proptosis ORPHA:1699
Hsd10 Disease, Infantile Type
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Choreoathetosis, Hypertrophic cardiomyop... ORPHA:391428
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Proptosis ORPHA:352582
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Whipple Disease
Anemia, Pericarditis, Proptosis, Hepatomegaly, Myocarditis, Splenomegaly ORPHA:3452
Shashi-Pena Syndrome
Hypertelorism, Proptosis, Atrial septal defect OMIM:617190
Pseudo-Torch Syndrome 3
Cardiomegaly, Congenital thrombocytopenia, Anemia, Leukocytosis OMIM:618886
20Q13.33 Microdeletion Syndrome
Hypertelorism, Abnormal cardiac ventricle morphology, Proptosis, Atrial septal defect ORPHA:261311
Hypomandibular Faciocranial Dysostosis
Optic disc coloboma, Proptosis, Atrial septal defect ORPHA:1790
Refsum Disease, Classic
Cardiomegaly, Retinal degeneration, Rod-cone dystrophy, Cardiomyopathy OMIM:266500
Fixed Subaortic Stenosis
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... ORPHA:3092
Restrictive Dermopathy 2
Proptosis OMIM:619793
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hypertelorism, Shallow orbits, Proptosis, Hepatomegaly ORPHA:73230
Melnick-Needles Syndrome
Hypertelorism, Proptosis, Abnormal cardiac septum morphology ORPHA:2484
Machado-Joseph Disease
Dystonia, Proptosis OMIM:109150
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Hypertelorism, Proptosis, Hepatomegaly, Splenomegaly OMIM:235255
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Ventricular hypertrophy, Proptosis, Patent foramen ovale OMIM:602613
Acrocardiofacial Syndrome
Truncus arteriosus, Ventricular septal defect, Mitral stenosis, Atrial septal defect, Hypertelori... ORPHA:2008
Developmental And Epileptic Encephalopathy 80
Hypertelorism, Optic disc pallor, Proptosis OMIM:618580
Craniosynostosis 4
Hypertelorism, Proptosis, Optic nerve hypoplasia OMIM:600775
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Amyloid deposition in the vitreous humor, Tremor, Cardiomyopathy OMIM:105210
Otospondylomegaepiphyseal Dysplasia
Retinal detachment, Proptosis, Degenerative vitreoretinopathy ORPHA:1427
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:212140
Bohring-Opitz Syndrome
Ventricular septal defect, Atrial septal defect, Hypertelorism, Proptosis, Abnormal optic nerve m... OMIM:605039
Marshall Syndrome
Vitreoretinopathy, Hypertelorism, Proptosis, Retinal detachment, Abnormal vitreous humor morphology ORPHA:560
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Proptosis ORPHA:440354
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly OMIM:252920
Machado-Joseph Disease Type 1
Dystonia, Proptosis ORPHA:276238
Machado-Joseph Disease Type 2
Dystonia, Proptosis ORPHA:276241
Cole-Carpenter Syndrome 2
Hypertelorism, Proptosis OMIM:616294
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Deeply set eye, T lymphocytopenia, Mitral valve prolapse, Decreased proportion... ORPHA:508533
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
Thanatophoric Dysplasia Type 1
Proptosis, Atrial septal defect ORPHA:1860
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... OMIM:231005
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Neutropenia in presence of anti-neutropil antibodies, Hypersplenism, Pancytopenia, Hepatosplenome... ORPHA:228426
Lowry-Maclean Syndrome
Atrioventricular canal defect, Proptosis ORPHA:2409
Sclerosteosis 1
Hypertelorism, Papilledema, Proptosis, Optic atrophy OMIM:269500
Kniest Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment, Vitreoretinopathy, Degenerative ... ORPHA:485
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... OMIM:115197
Kniest Dysplasia
Retinal detachment, Proptosis OMIM:156550
Cardiofaciocutaneous Syndrome 1
Optic nerve dysplasia, Splenomegaly, Atrial septal defect, Hypertrophic cardiomyopathy, Hypertelo... OMIM:115150
Atelosteogenesis Type I
Retinal dysplasia, Hypertelorism, Proptosis ORPHA:1190
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Hypertelorism, Proptosis OMIM:618529
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertelorism, Proptosis, Optic atrophy ORPHA:1555
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Proptosis ORPHA:1323
Cenani-Lenz Syndrome
Hypertelorism, Proptosis ORPHA:3258
Distal Monosomy 9P
Hypertelorism, Proptosis ORPHA:1642
Acrocraniofacial Dysostosis
Hypertelorism, Proptosis ORPHA:949
Cole-Carpenter Syndrome 1
Shallow orbits, Proptosis OMIM:112240
Pfeiffer Syndrome Type 1
Hypertelorism, Proptosis ORPHA:93258
Machado-Joseph Disease Type 3
Dystonia, Proptosis ORPHA:276244
Desbuquois Dysplasia 1
Proptosis OMIM:251450
Cantu Syndrome
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve OMIM:239850
Lateral Meningocele Syndrome
Hypertelorism, Ventricular septal defect, Proptosis ORPHA:2789
Hemochromatosis, Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:235200
Familial Gestational Hyperthyroidism
Hand tremor, Proptosis ORPHA:99819
Antley-Bixler Syndrome
Hypertelorism, Proptosis ORPHA:83
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Right atrial ... OMIM:306955
Fucosidosis
Hypertelorism, Dystonia, Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:230000
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Proptosis, Anemia ORPHA:370348
Distal Monosomy 10Q
Proptosis, Atrial septal defect, Hypotelorism ORPHA:96148
Coronary Arterial Fistula
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... ORPHA:2041
Hennekam-Beemer Syndrome
Mastocytosis, Proptosis, Optic atrophy ORPHA:2135
Saul-Wilson Syndrome
Neutropenia, Proptosis OMIM:618150
H Syndrome
Enlarged kidney, Hepatosplenomegaly, Proptosis, Histiocytosis, Microcytic anemia ORPHA:168569
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Hypertelorism, Cardiomegaly, Ventricular septal defect OMIM:616897
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Proptosis ORPHA:424
Alg9-Cdg
Ventricular septal defect, Pericardial effusion, Enlarged kidney, Torticollis, Abnormal left vent... ORPHA:79328
Baller-Gerold Syndrome
Hypertelorism, Proptosis, Abnormal cardiac septum morphology, Hypotelorism ORPHA:1225
Trichohepatoenteric Syndrome 1
Splenomegaly, Ventricular septal defect, Increased mean platelet volume, Hypertelorism, Thrombocy... OMIM:222470
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Dyssegmental Dysplasia, Silverman-Handmaker Type
Abnormal heart morphology, Proptosis ORPHA:1865
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, P... OMIM:618278
Xylt1-Cdg
Proptosis, Hepatomegaly ORPHA:370930
20Q11.2 Microduplication Syndrome
Proptosis, Lingual dystonia ORPHA:363659
Gaucher Disease, Perinatal Lethal
Anemia, Hepatosplenomegaly, Hypertelorism, Thrombocytopenia, Hepatomegaly, Cardiomegaly, Opisthot... OMIM:608013
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Marfanoid-Progeroid-Lipodystrophy Syndrome
Mitral valve prolapse, Deeply set eye, Proptosis OMIM:616914
Premature Aging Syndrome, Penttinen Type
Hypermyelinated retinal nerve fibers, Hypertelorism, Proptosis, Shallow orbits, Hypotelorism OMIM:601812
Juvenile Xanthogranuloma
Proptosis, Myeloproliferative disorder ORPHA:158000
Dysostosis, Stanescu Type
Hypertelorism, Proptosis ORPHA:1798
Sandhoff Disease
Exaggerated startle response, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Cherry red spot of ... OMIM:268800
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Proptosis, Shallow orbits, Intention tremor, Optic nerve hypoplasia OMIM:620029
Donohue Syndrome
Proptosis OMIM:246200
Metaphyseal Chondrodysplasia, Jansen Type
Hypertelorism, Proptosis OMIM:156400
Multiple Pterygium-Malignant Hyperthermia Syndrome
Proptosis, Hypotelorism ORPHA:2215
Short Stature With Microcephaly And Distinctive Facies
Anisopoikilocytosis, Proptosis, Anemia OMIM:615789
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Hypertelorism, Proptosis, Optic disc coloboma ORPHA:251014
Mogs-Cdg
Optic atrophy, Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomega... ORPHA:79330
Dural Sinus Malformation
Papilledema, Proptosis ORPHA:97339
Apert Syndrome
Hypertelorism, Proptosis, Optic atrophy ORPHA:87
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Optic atrophy, Retinal atrophy, Hypertelorism, Proptosis, Car... ORPHA:97297
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Deeply set eye, Hypertelorism, Tremor, Proptosis, Dystonia OMIM:300966
Bainbridge-Ropers Syndrome
Hypertelorism, Deeply set eye, Proptosis OMIM:615485
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Proptosis, Atrial septal defect OMIM:207410
Craniotubular Dysplasia, Ikegawa Type
Optic nerve compression, Ventricular septal defect, Optic atrophy, Hypertelorism, Proptosis, Opti... OMIM:619727
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... ORPHA:439
Fibrochondrogenesis 1
Patent foramen ovale, Proptosis OMIM:228520
Camurati-Engelmann Disease
Anemia, Optic nerve compression, Proptosis OMIM:131300
Loeys-Dietz Syndrome 5
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Hypertelorism, Proptosis OMIM:615582
Holoprosencephaly 3
Hypotelorism, Cyclopia, Proptosis OMIM:142945
Fibrochondrogenesis
Hypertelorism, Proptosis ORPHA:2021
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Pycnodysostosis
Proptosis, Hepatosplenomegaly ORPHA:763
Beare-Stevenson Cutis Gyrata Syndrome
Hypertelorism, Proptosis, Optic atrophy OMIM:123790
Prader-Willi Syndrome Due To Translocation
Patent foramen ovale, Deeply set eye, Hypertelorism, Abnormal heart morphology, Proptosis, Hypote... ORPHA:177907
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... ORPHA:324410
Shprintzen-Goldberg Craniosynostosis Syndrome
Mitral valve prolapse, Hypertelorism, Proptosis, Shallow orbits OMIM:182212
Ogden Syndrome
Patent foramen ovale, Deeply set eye, Ventricular septal defect, Perimembranous ventricular septa... OMIM:300855
Frank-Ter Haar Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Secundum atrial s... OMIM:249420
Aorta Coarctation
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... ORPHA:1457
Neu-Laxova Syndrome 2
Hypertelorism, Proptosis OMIM:616038
Robinow Syndrome, Autosomal Dominant 3
Patent foramen ovale, Ventricular septal defect, Hypoplastic right heart, Hypertelorism, Proptosis OMIM:616894
Camurati-Engelmann Disease
Leukopenia, Anemia, Optic nerve compression, Optic atrophy, Hypertrophic cardiomyopathy, Proptosi... ORPHA:1328
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Proptosis ORPHA:85184
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Proptosis OMIM:215150
Shprintzen-Goldberg Syndrome
Mitral valve prolapse, Abnormal aortic valve morphology, Hypertelorism, Proptosis ORPHA:2462
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Erdheim-Chester Disease
Abnormal pericardium morphology, Anemia, Abnormal aortic valve morphology, Proptosis ORPHA:35687
Pfeiffer Syndrome Type 2
Hypertelorism, Proptosis ORPHA:93259
Cole-Carpenter Syndrome
Proptosis ORPHA:2050
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Proptosis OMIM:619234
Mandibuloacral Dysplasia With Type B Lipodystrophy
Proptosis OMIM:608612
Neu-Laxova Syndrome
Opisthotonus, Hypertelorism, Proptosis ORPHA:2671
Pontocerebellar Hypoplasia, Type 10
Proptosis OMIM:615803
Robinow Syndrome, Autosomal Dominant 2
Hypertelorism, Proptosis OMIM:616331
Apert Syndrome
Ventricular septal defect, Hypertelorism, Proptosis, Overriding aorta, Shallow orbits OMIM:101200
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent foramen ovale, Hypertelorism, Proptosis ORPHA:457395
Cerebrotendinous Xanthomatosis
Resting tremor, Optic atrophy, Hypermyelinated retinal nerve fibers, Proptosis, Optic neuropathy,... ORPHA:909
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Hepatosplenomegaly, Hypertelorism, Proptosis, Optic disc pallor ORPHA:309282
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Atrial septal defect, Optic nerve hypoplasia, Hypertelorism, Pro... ORPHA:536471
Campomelic Dysplasia
Hypertelorism, Proptosis ORPHA:140
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Ventricular septal defect, Torticollis, Cardiomegaly, Overriding aorta OMIM:617022
Cornelia De Lange Syndrome 1
Ventricular septal defect, Optic atrophy, Proptosis, Thrombocytopenia, Optic disc coloboma OMIM:122470
Multicentric Osteolysis, Nodulosis, And Arthropathy
Mitral valve prolapse, Hypertelorism, Proptosis OMIM:259600
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:201475
Pfeiffer Syndrome Type 3
Hypertelorism, Proptosis ORPHA:93260
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Localized Scleroderma
Deeply set eye, Proptosis ORPHA:90289
Desbuquois Dysplasia 2
Proptosis OMIM:615777
Zygomycosis
Endocarditis, Brain abscess, Neutropenia, Pericarditis, Retinal arterial occlusion, Proptosis, Re... ORPHA:73263
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Optic atrophy, Cardiomyopathy OMIM:619259
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Enlarged kidney, Proptosis, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:130650
Marshall-Smith Syndrome
Ventricular septal defect, Dysplastic aortic valve, Atrial septal defect, Optic nerve hypoplasia,... OMIM:602535
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Chorioretinal atrophy, Atrial septal defect, Proptosis OMIM:600268
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... ORPHA:75565
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Atrial septal defect, Hypertelorism, Abnormal pulmonary valve morpholo... ORPHA:1507
Retinoblastoma
Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Subretinal pigment epithelium hemorrh... ORPHA:790
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Proptosis OMIM:615349
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Ventricular septal defect, Atrial septal defect, Proptosis, Thrombocytopenia ORPHA:163979
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Mitral valve prolapse, Peripapillary atrophy, Proptosis ORPHA:536467
Noonan Syndrome
Hypertelorism, Abnormal pulmonary valve morphology, Proptosis, Hepatomegaly, Abnormality of the s... ORPHA:648
Fanconi Anemia
Leukopenia, Anemia, Abnormal cardiac septum morphology, Pyridoxine-responsive sideroblastic anemi... ORPHA:84
Wolf-Hirschhorn Syndrome
Retinopathy, Abnormal cardiac septum morphology, Optic atrophy, Atrial septal defect, Hypertelori... ORPHA:280
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Attenuation of retinal blood vessels, Optic nerve hypoplasia, Proptosis, Optic disc pallor, Hypot... ORPHA:468631
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Right atrial enlargement, Proptosis OMIM:614008
Degcags Syndrome
Patent foramen ovale, Anemia, Leukopenia, Ventricular septal defect, Abnormal spleen morphology, ... OMIM:619488
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Kosaki Overgrowth Syndrome
Proptosis OMIM:616592
Symptomatic Form Of Hemochromatosis Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy ORPHA:465508
Mandibuloacral Dysplasia Progeroid Syndrome
Patent foramen ovale, Left ventricular hypertrophy, Shallow orbits, Elevated hemoglobin A1c, Hepa... OMIM:619127
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... ORPHA:1329
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Cirrhotic Cardiomyopathy
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... ORPHA:57777
Robinow Syndrome
Pulmonary valve atresia, Ventricular septal defect, Atrial septal defect, Hypertelorism, Abnormal... ORPHA:97360
14Q22Q23 Microdeletion Syndrome
Hypertelorism, Optic nerve aplasia, Proptosis ORPHA:264200
Arboleda-Tham Syndrome
Deeply set eye, Ventricular septal defect, Optic atrophy, Secundum atrial septal defect, Atrial s... OMIM:616268
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Proptosis OMIM:617063
Raine Syndrome
Hypertelorism, Proptosis OMIM:259775
Hyperthyroidism, Nonautoimmune
Proptosis OMIM:609152
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Mandibuloacral Dysplasia With Type B Lipodystrophy
Proptosis ORPHA:90154
Proboscis Lateralis
Ventricular septal defect, Optic nerve hypoplasia, Hypertelorism, Cyclopia, Chorioretinal colobom... ORPHA:141099
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Hypertelorism, Proptosis ORPHA:2211
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Deeply set eye, Ventricular septal defect, Bicuspid aortic valve, Torticollis, Intention tremor, ... OMIM:619475
Danon Disease
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... OMIM:300257
Atelosteogenesis, Type I
Hypertelorism, Proptosis OMIM:108720
Okamoto Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal left ventricle morphology, ... ORPHA:2729
Smith-Lemli-Opitz Syndrome
Atrioventricular canal defect, Ventricular septal defect, Optic atrophy, Atrial septal defect, Hy... ORPHA:818
Granulomatosis With Polyangiitis
Pericarditis, Granulomatosis, Retinopathy, Proptosis ORPHA:900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Proptosis, Hepatomegaly OMIM:248370
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Chorioretinal coloboma, Optic atrophy, Proptosis OMIM:210730
Keppen-Lubinsky Syndrome
Opisthotonus, Shallow orbits, Proptosis OMIM:614098
Mandibuloacral Dysplasia With Type A Lipodystrophy
Proptosis ORPHA:90153
Beckwith-Wiedemann Syndrome
Choroideremia, Enlarged kidney, Polycythemia, Hypertrophic cardiomyopathy, Proptosis, Hepatomegal... ORPHA:116
Congenital Myopathy 17
Proptosis OMIM:618975
Rubinstein-Taybi Syndrome 1
Patent foramen ovale, Deeply set eye, Ventricular septal defect, Perimembranous ventricular septa... OMIM:180849
Melnick-Needles Syndrome
Mitral valve prolapse, Hypertelorism, Proptosis, Tricuspid valve prolapse OMIM:309350
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Bicuspid pulmonary valve, Hyp... OMIM:609192
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Patent foramen ovale, Anemia, Dilatation of the ventricular cavity, ... OMIM:619991
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Iron deficiency anemia, Proptosis ORPHA:93315
Catel-Manzke Syndrome
Ventricular septal defect, Hypertelorism, Dextrocardia, Proptosis, Overriding aorta OMIM:616145
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Atrial septal defect, Hypertelorism, Proptosis, Tetralogy of Fallot ORPHA:1519
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:608836
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal optic nerve morphology, Thrombocytopenia, Optic nerve compression, Proptosis ORPHA:79078
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Keppen-Lubinsky Syndrome
Opisthotonus, Shallow orbits, Proptosis ORPHA:435628
Pseudoaminopterin Syndrome
Patent foramen ovale, Hypertelorism, Proptosis, Asplenia ORPHA:221120
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Hypertelorism ORPHA:2463
Toriello-Lacassie-Droste Syndrome
Proptosis ORPHA:3339
X-Linked Intellectual Disability, Snyder Type
Hypertelorism, Proptosis ORPHA:3063
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Proteasome-Associated Autoinflammatory Syndrome 1
Proptosis, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Microcytic anemia OMIM:256040
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Abnormal mitral valve morphology, Reti... ORPHA:581
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Cyclopia, Chorioretinal coloboma, Proptosis, Single vent... OMIM:157170
Meester-Loeys Syndrome
Mitral valve prolapse, Hypertelorism, Proptosis OMIM:300989
Abetalipoproteinemia
Anemia, Rod-cone dystrophy, Abnormality of retinal pigmentation, Reticulocytosis, Hypopigmentatio... ORPHA:14
Schinzel-Giedion Syndrome
Myeloid leukemia, Hypertelorism, Abnormal heart morphology, Proptosis, Shallow orbits ORPHA:798
Robinow Syndrome, Autosomal Recessive 1
Hypertelorism, Proptosis OMIM:268310
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Hypertelorism, Proptosis OMIM:617011
Glycogen Storage Disease Of Heart, Lethal Congenital
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... OMIM:261740
Isolated Exencephaly
Proptosis ORPHA:563612
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Roberts Syndrome
Thrombocytopenia, Hypertelorism, Proptosis ORPHA:3103
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Proptosis OMIM:271640
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly ORPHA:308552
Osteogenesis Imperfecta, Type Viii
Proptosis OMIM:610915
Yunis-Varon Syndrome
Ventricular septal defect, Atrial septal defect, Hypertelorism, Proptosis, Cardiomegaly, Tetralog... ORPHA:3472
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy OMIM:614921
17Q11 Microdeletion Syndrome
Deeply set eye, Retinal vascular proliferation, Abnormal choroid morphology, Leukemia, Hypertroph... ORPHA:97685
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect, Proptosis ORPHA:444077
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Hypertelorism, Shallow orbits, Proptosis ORPHA:457359
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Atrial septal defect, Hypertelorism, Abnorma... OMIM:612289
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Proptosis ORPHA:85199
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Deeply set eye, Secundum atrial septal defect, Hypertelorism, Proptosis... OMIM:264090
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hypertrophic cardiomyopathy, Hypertelorism, Hepatomegaly, Cardiomegaly, Splenome... OMIM:252500
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Hypertelorism, Proptosis OMIM:130070
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Proptosis, Chorioretinal coloboma, Leukemia, Chronic myeloge... ORPHA:636
Blomstrand Lethal Chondrodysplasia
Proptosis ORPHA:50945
Stickler Syndrome
Mitral valve prolapse, Hypertelorism, Proptosis, Retinal detachment, Abnormal vitreous humor morp... ORPHA:828
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy ORPHA:228308
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Meningioma
Papilledema, Proptosis ORPHA:2495
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... ORPHA:3384
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Proteus Syndrome
Enlarged polycystic ovaries, Retinal hamartoma, Abnormality of retinal pigmentation, Retinal nona... ORPHA:744
Autosomal Dominant Robinow Syndrome
Hypertelorism, Proptosis ORPHA:3107
Viss Syndrome
Hypereosinophilia, Patent foramen ovale, Double outlet right ventricle, Deeply set eye, Coronary ... OMIM:619472
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Glycogen Storage Disease Ii
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Hypertelorism, Bicuspid aortic valve ORPHA:91387
Elsahy-Waters Syndrome
Hypertelorism, Proptosis, Increased cup-to-disc ratio OMIM:211380
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Shallow orbits, Ventricular septal defect, Hepatomegaly ORPHA:96191
Branchioskeletogenital Syndrome
Hypertelorism, Proptosis ORPHA:1299
Congenital Tracheomalacia
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... ORPHA:95430
Wolf-Hirschhorn Syndrome
Ventricular septal defect, Atrial septal defect, Hypertelorism, Accessory spleen, Proptosis OMIM:194190
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Muscular ventricular septa... OMIM:210710
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Bicuspid pulmonary valve, Hyp... OMIM:610168
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... OMIM:300967
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Neonatal alloimmune ... ORPHA:51
Cutis Laxa, Autosomal Recessive, Type Ib
Hypertelorism, Proptosis OMIM:614437
Orofaciodigital Syndrome Type 4
Hypertelorism, Proptosis ORPHA:2753
Neu-Laxova Syndrome 1
Patent foramen ovale, Ventricular septal defect, Hypertelorism, Proptosis, Transposition of the g... OMIM:256520
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... ORPHA:980
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... ORPHA:1677
Histiocytoid Cardiomyopathy
Cardiomegaly, Ventricular septal defect, Optic atrophy, Hepatomegaly ORPHA:137675
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrop... OMIM:613795
Fetal Akinesia Deformation Sequence 1
Hypertelorism, Proptosis OMIM:208150
Craniosynostosis And Dental Anomalies
Hypertelorism, Papilledema, Proptosis OMIM:614188
Robinow Syndrome, Autosomal Dominant 1
Hypertelorism, Proptosis OMIM:180700
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... ORPHA:99125
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly ORPHA:365
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Proptosis ORPHA:2636
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypertelorism, Proptosis OMIM:271665
Osteogenesis Imperfecta, Type Vii
Proptosis OMIM:610682
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Atrial septal defect, Hypertelorism, Accessory spleen, Proptosis, Shal... OMIM:268300
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Vascular Ehlers-Danlos Syndrome
Deeply set eye, Mitral valve prolapse, Hypertelorism, Proptosis, Abnormal heart valve morphology ORPHA:286
Williams Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Bicuspid aortic valve, Mitral valv... ORPHA:904
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypertelorism, Proptosis OMIM:201750
Yunis-Varon Syndrome
Patent foramen ovale, Ventricular septal defect, Hypertelorism, Proptosis, Tetralogy of Fallot, C... OMIM:216340
Generalized Arterial Calcification Of Infancy
Retinal hemorrhage, Ventricular hypertrophy, Angioid streaks of the fundus, Abnormal retinal arte... ORPHA:51608
Pallister-Killian Syndrome
Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypertelorism, Prop... OMIM:601803
Singleton-Merten Syndrome 1