Proptosis

Symptom Information:

Symptom ID: HPO:0000520
Synonyms:
Anterior bulging of the globe [HPO:0000520]
Exophthalmos [HPO:0000520]
Ocular proptosis [HPO:0000520]
Prominent eyes [HPO:0000520]
Prominent globes [HPO:0000520]
Protruding eyes [HPO:0000520]
Exophthalmos (disorder) [Orphanet:3440]
Exophthalmos [Orphanet:3440]
Exophthalmos [OMIM:Exophthalmos]
Ocular proptosis [OMIM:Ocular proptosis]
Prominent eyes [OMIM:Prominent eyes]
Prominent globes [OMIM:Prominent globes]
Proptosis [OMIM:Proptosis]
Protruding eyes [OMIM:Protruding eyes]
Proptosis/exophthalmos [Orphanet:3440]
Exophthalmos [MedDRA:10015683]
Bulging eyes [MedDRA:10015683]
Constant exophthalmos [MedDRA:10015683]
Exophthalmos NOS [MedDRA:10015683]
Exophthalmos, unspecified [MedDRA:10015683]
Intermittent exophthalmos [MedDRA:10015683]
Other exophthalmic conditions [MedDRA:10015683]
Proptosis [MedDRA:10015683]
Pulsating exophthalmos [MedDRA:10015683]
Bulging eyes [OMIM:Bulging eyes]
Prominent eyes (14%) [OMIM:Prominent eyes (14%)]
Prominent eyes (37%) [OMIM:Prominent eyes (37%)]
Prominent eyes (in one patient) [OMIM:Prominent eyes (in one patient)]
Proptosis (1 patient) [OMIM:Proptosis (1 patient)]
Quality:
Cross references:
Orphanet:3440 "Proptosis/exophthalmos" [Orphanet:3440]
OMIM: "Exophthalmos" [OMIM:Exophthalmos]
OMIM: "Ocular proptosis" [OMIM:Ocular proptosis]
OMIM: "Prominent eyes" [OMIM:Prominent eyes]
OMIM: "Prominent globes" [OMIM:Prominent globes]
OMIM: "Proptosis" [OMIM:Proptosis]
OMIM: "Protruding eyes" [OMIM:Protruding eyes]
OMIM: "Bulging eyes" [OMIM:Bulging eyes]
OMIM: "Prominent eyes (14%)" [OMIM:Prominent eyes (14%)]
OMIM: "Prominent eyes (37%)" [OMIM:Prominent eyes (37%)]
OMIM: "Prominent eyes (in one patient)" [OMIM:Prominent eyes (in one patient)]
OMIM: "Proptosis (1 patient)" [OMIM:Proptosis (1 patient)]
UMLS:C0015300 "Exophthalmos" [Orphanet:3440]
Is a (Direct Parents):
HPO         Abnormality of globe location
Orphanet Abnormal facial shape
MedDRA Thyroid hyperfunction disorders
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Abnormality of the globe(HPO:0012374)
                Abnormality of globe location(HPO:0100886)
                   Proptosis(HPO:0000520)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the face(HPO:0000271)
                Abnormality of the orbital region(HPO:0000315)
                   Abnormality of globe location(HPO:0100886)
                      Proptosis(HPO:0000520)
                obsolete Abnormality of the ocular region(HPO:0000284)
                   Abnormality of globe location(HPO:0100886)
                      Proptosis(HPO:0000520)
MedDRA:
Endocrine disorders(MedDRA:10014698)
    Thyroid gland disorders(MedDRA:10043739)
       Thyroid hyperfunction disorders(MedDRA:10043740)
          Proptosis(HPO:0000520)
Database Frequency: 192 / 7739
Resource:

All diseases associated with this symptom:

19p13.12 microdeletion syndrome (Orphanet:254346)
2q31.1 microdeletion syndrome (Orphanet:251014)
5p13 microduplication syndrome (Orphanet:329802)
AL amyloidosis (Orphanet:85443)
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES (OMIM:109120)
AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Acro-cardio-facial syndrome (Orphanet:2008)
Acro-osteolysis-keloid-like lesions-premature aging syndrome (Orphanet:363665)
Acrocraniofacial dysostosis (Orphanet:949)
Allan-Herndon-Dudley syndrome (Orphanet:59)
Aminopterin/methotrexate embryofetopathy (Orphanet:1908)
Antley-Bixler syndrome (Orphanet:83)
Apert syndrome (Orphanet:87)
Arachnodactyly - abnormal ossification - intellectual deficit (Orphanet:1129)
Atelosteogenesis type I (Orphanet:1190)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive distal osteolysis syndrome (Orphanet:2776)
Axial spondylometaphyseal dysplasia (Orphanet:168549)
Baller-Gerold syndrome (Orphanet:1225)
Beckwith-Wiedemann syndrome (Orphanet:116)
Beckwith-Wiedemann syndrome due to 11p15 microdeletion (Orphanet:231127)
Bohring-Opitz syndrome (Orphanet:97297)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CINCA syndrome (Orphanet:1451)
COLE-CARPENTER SYNDROME 2 (OMIM:616294)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Caffey disease (Orphanet:1310)
Campomelic dysplasia (Orphanet:140)
Camptodactyly - joint contractures - facial skeletal defects (Orphanet:1323)
Camurati-Engelmann disease (Orphanet:1328)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cenani-Lenz syndrome (Orphanet:3258)
Cherubism (Orphanet:184)
Childhood-onset hypophosphatasia (Orphanet:247667)
Chondrodysplasia with joint dislocations, gPAPP type (Orphanet:280586)
Chondrodysplasia, Blomstrand type (Orphanet:50945)
Cole-Carpenter syndrome (Orphanet:2050)
Cornelia de Lange syndrome (Orphanet:199)
Craniofaciofrontodigital syndrome (Orphanet:363705)
Craniosynostosis - anal anomalies - porokeratosis (Orphanet:85199)
Craniosynostosis - fibular aplasia (Orphanet:1533)
Craniosynostosis - intracranial calcifications (Orphanet:52054)
Crouzon disease (Orphanet:207)
Crouzon syndrome - acanthosis nigricans (Orphanet:93262)
Cutis gyrata - acanthosis nigricans - craniosynostosis (Orphanet:1555)
DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
DWARFISM, FAMILIAL, WITH MUSCLE SPASMS (OMIM:600771)
Desbuquois syndrome (Orphanet:1425)
Distal monosomy 9p (Orphanet:1642)
Donnai-Barrow syndrome (Orphanet:2143)
Dysmorphism - conductive hearing loss - heart defect (Orphanet:289553)
Dysostosis, Stanescu type (Orphanet:1798)
Dyssegmental dysplasia - glaucoma (Orphanet:1804)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 (OMIM:130070)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 (OMIM:615349)
Ehlers-Danlos syndrome, progeroid type (Orphanet:75496)
Ehlers-Danlos syndrome, spondylocheirodysplastic type (Orphanet:157965)
Ehlers-Danlos syndrome, vascular type (Orphanet:286)
Embryofetopathy due to oral anticoagulant therapy (Orphanet:1914)
Eosinophilic granuloma (Orphanet:99871)
Erdheim-Chester disease (Orphanet:35687)
FETAL AKINESIA DEFORMATION SEQUENCE (OMIM:208150)
FRONTOOCULAR SYNDROME (OMIM:605321)
Faisalabad histiocytosis (Orphanet:254707)
Fanconi anemia (Orphanet:84)
Fetal Gaucher disease (Orphanet:85212)
Fetal akinesia deformation sequence (Orphanet:994)
Fibrochondrogenesis (Orphanet:2021)
Filippi syndrome (Orphanet:3255)
Frank-Ter Haar syndrome (Orphanet:137834)
GRAVES DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:275000)
Gorlin syndrome (Orphanet:377)
Granulomatosis with polyangiitis (Orphanet:900)
Growth deficiency - brachydactyly - dysmorphism (Orphanet:2055)
H syndrome (Orphanet:168569)
Hand-Schüller-Christian disease (Orphanet:99873)
Harlequin ichthyosis (Orphanet:457)
Hennekam-Beemer syndrome (Orphanet:2135)
Hirsutism - skeletal dysplasia - intellectual deficit (Orphanet:2156)
Holoprosencephaly - caudal dysgenesis (Orphanet:2165)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hutchinson-Gilford progeria syndrome (Orphanet:740)
Hydatidosis (Orphanet:400)
Hypertelorism - hypospadias - polysyndactyly syndrome (Orphanet:2211)
Hypertelorism, Teebi type (Orphanet:1519)
Hypomandibular faciocranial dysostosis (Orphanet:1790)
Insulin-resistance syndrome type A (Orphanet:2297)
Isolated brachycephaly (Orphanet:35099)
Isolated cloverleaf skull syndrome (Orphanet:2343)
Jackson-Weiss syndrome (Orphanet:1540)
KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
KLEEBLATTSCHAEDEL (OMIM:148800)
Kniest dysplasia (Orphanet:485)
LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Lateral meningocele syndrome (Orphanet:2789)
Leprechaunism (Orphanet:508)
Lethal Kniest-like dysplasia (Orphanet:2347)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
Lowry-MacLean syndrome (Orphanet:2409)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE (OMIM:601420)
MICROHYDRANENCEPHALY (OMIM:605013)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Mandibular hypoplasia-deafness-progeroid syndrome (Orphanet:363649)
Mandibuloacral dysplasia (Orphanet:2457)
Mandibuloacral dysplasia with type A lipodystrophy (Orphanet:90153)
Mandibuloacral dysplasia with type B lipodystrophy (Orphanet:90154)
Marshall syndrome (Orphanet:560)
Marshall-Smith syndrome (Orphanet:561)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type (Orphanet:85172)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephaly - cervical spine fusion anomalies (Orphanet:2522)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
Muenke syndrome (Orphanet:53271)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multicentric carpo-tarsal osteolysis with or without nephropathy (Orphanet:2774)
Nestor-Guillermo progeria syndrome (Orphanet:280576)
Neu-Laxova syndrome (Orphanet:2671)
Neurofibromatosis type 1 (Orphanet:636)
Noonan syndrome (Orphanet:648)
OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
OSTEOGENESIS IMPERFECTA, TYPE VIII (OMIM:610915)
Okamoto syndrome (Orphanet:2729)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteoglophonic dwarfism (Orphanet:2645)
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Pfeiffer syndrome (Orphanet:710)
Pfeiffer syndrome type 1 (Orphanet:93258)
Pfeiffer syndrome type 2 (Orphanet:93259)
Pfeiffer syndrome type 3 (Orphanet:93260)
Pierre Robin syndrome - faciodigital anomaly (Orphanet:2888)
Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (Orphanet:254723)
Pontocerebellar hypoplasia type 3 (Orphanet:97249)
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome (Orphanet:276432)
Primary localized amyloidosis (Orphanet:314709)
Prolidase deficiency (Orphanet:742)
Proteus syndrome (Orphanet:744)
Pycnodysostosis (Orphanet:763)
RIENHOFF SYNDROME (OMIM:615582)
ROBERTS SYNDROME (OMIM:268300)
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Relapsing polychondritis (Orphanet:728)
Roberts syndrome (Orphanet:3103)
Rosaï-Dorfman disease (Orphanet:158014)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SCLEROSTEOSIS 1 (OMIM:269500)
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL (OMIM:602613)
Scheie syndrome (Orphanet:93474)
Schinzel-Giedion syndrome (Orphanet:798)
Sclerosteosis (Orphanet:3152)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Spinocerebellar ataxia - dysmorphism (Orphanet:1185)
Spinocerebellar ataxia type 3 (Orphanet:98757)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Stickler syndrome (Orphanet:828)
Stickler syndrome type 1 (Orphanet:90653)
Syndromic diarrhea (Orphanet:84064)
Syndromic multisystem autoimmune disease due to Itch deficiency (Orphanet:228426)
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Tetralogy of Fallot (Orphanet:3303)
Tetrasomy 12p (Orphanet:884)
Thanatophoric dysplasia (Orphanet:2655)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thanatophoric dysplasia type 2 (Orphanet:93274)
Torg-Winchester syndrome (Orphanet:3460)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
Trigonocephaly - short stature - developmental delay (Orphanet:3369)
Trisomy 12p (Orphanet:1699)
Waldenström macroglobulinemia (Orphanet:33226)
Weissenbacher- Zweymuller syndrome (Orphanet:3450)
Whipple disease (Orphanet:3452)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wyburn-Mason syndrome (Orphanet:53719)
Yunis-Varon syndrome (Orphanet:3472)