Retinoblastoma

A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.



Input patient's signs and symptoms


Narrow down the case reports



Total: 558 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(66.4%)		 20814946
 Tissue-limited mosaicism for monosomy 13.
Golabi M, James AW, Good WV, Cotter PD.
Am J Med Genet A. 2010;152A(10):2634-9.
Micrognathia Prominent nasal bridge Absent thumb
Adult Chromosome Deletion Chromosomes, Human, Pair 13 Females Homo sapiens Male Mosaicism Sequence Deletion
2
(63.5%)		 11675686
 A case of del(13)(q22) with multiple major congenital anomalies, imperforate anus and penoscrotal transposition.
Chung JL, Choi JR, Park MS, Choi SH.
Yonsei Med J. 2001;42(5):558-62.
Micrognathia Telecanthus
Anus, Imperforate Chromosomes, Human, Pair 13 Fatal Outcome Gene Deletion Homo sapiens Infant, Newborn Male Scrotum
2
(63.5%)		 3864729
 A case report of a patient with retinoblastoma and chromosome 13q deletion: assignment of a new gene (gene for LCP1) on human chromosome 13.
Kondo I, Shin K, Honmura S, Nakajima H, Yamamura E, Satoh H, Terauchi M, Usuki Y, Takita H, Hamaguchi H.
Hum Genet. 1985;71(3):263-6.
Epicanthus Micrognathia
ESD LCP1 RB1
Blood Proteins Carboxylic Ester Hydrolases Chromosome Banding Chromosome Deletion Chromosome Mapping Chromosomes, Human, 13-15 Eye Neoplasms Females Genetic Markers Homo sapiens Infant Microfilament Proteins Retinoblastoma
4
(59.0%)		 17502991
 Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.
Caselli R, Speciale C, Pescucci C, Uliana V, Sampieri K, Bruttini M, Longo I, De Francesco S, Pramparo T, Zuffardi O, Frezzotti R, Acquaviva A, Hadjistilianou T, Renieri A, Mari F.
J Hum Genet. 2007;52(6):535-42.
Broad forehead Micrognathia
HTR2A NUFIP1 PCDH17 PCDH8
Child Child, Preschool Chromosome Deletion Developmental Disabilities Females Homo sapiens Infant Intellectual Disability Male Microcephaly Polymerase Chain Reaction Retinal Neoplasms Retinoblastoma Syndrome
5
(57.8%)		 21614986
 Partial trisomy 8p (8p11.2-->pTER) and deletion of 13q (13q32-->qTER): case report.
Yesilyurt A, Dilli D, Oguz S, Dilmen U, Altug N, Candemir Z.
Genet Couns. 2011;22(1):35-40.
Microcephaly Micrognathia
Chromosome Deletion Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 8 Congenital Heart Defects Craniofacial Abnormalities Echocardiography Females Genetic Carrier Screening Homo sapiens Infant, Newborn Intellectual Disability Trisomy
6
(46.2%)		 20143912
 Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication.
Vaglio A, Milunsky A, Quadrelli A, Huang XL, Maher T, Mechoso B, Martinez S, Pagano S, Bellini S, Costabel M, Quadrelli R.
Genet Test Mol Biomarkers. 2010;14(1):57-65.
Furrowed tongue Brachycephaly Blepharitis
IFNAR2 RB1
p|SUB|A|500|K
Child, Preschool Chromosomes, Human, Pair 21 Down Syndrome Females Fluorescent in Situ Hybridization Genetic Markers Homo sapiens Phenotype Short Tandem Repeat Single Nucleotide Polymorphism
7
(45.7%)		 27134435
(4832803)
 Prosthetic rehabilitation of an orbital defect for a patient with hemifacial atrophy.
Shetty S, Mohammad F, Shetty R, Shenoy K.
J Indian Prosthodont Soc. 2016;16(1):91-5.
Hemiatrophy
7
(45.7%)		 9101109
 A 14-year-old patient with Ewing's sarcoma presenting at autopsy with multiple neurofibrillary tangles and Lewy bodies in addition to hemiatrophy of the central nervous system.
Okeda R, Kanazawa A, Yamada M, Ohkawa Y, Kawabata K, Yoshida MA, Ikeuchi T.
Clin Neuropathol. 1997;16(2):77-84.
Seizure Hemiatrophy
Adult Brain Diseases Child Eye Neoplasms Females Homo sapiens Lewy Bodies Male Retinoblastoma
9
(40.2%)		 29062253
 Gorlin-Goltz syndrome.
ereflican B, Tuman B, ereflican M, Halcoglu S, Ozyalvacl G, Bayrak S.
Turk Pediatri Ars. 2017;52(3):173-177.
Frontal bossing
9
(40.2%)		 12567409
 Clinical and genetic aspects of trigonocephaly: a study of 25 cases.
Azimi C, Kennedy SJ, Chitayat D, Chakraborty P, Clarke JT, Forrest C, Teebi AS.
Am J Med Genet A. 2003;117A(2):127-35.
Trigonocephaly Metopic synostosis
Child, Preschool Chromosome Aberrations Craniofacial Abnormalities Craniosynostosis Fatal Outcome Females Homo sapiens Infant Infant, Newborn Male Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0009919 Retinoblastoma Obligate (100%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000501 Glaucoma Frequent (79-30%)
HP:0000520 Proptosis Frequent (79-30%)
HP:0000555 Leukocoria Frequent (79-30%)
HP:0031615 Hypopyon Frequent (79-30%)
HP:0000554 Uveitis Occasional (29-5%)
HP:0001100 Heterochromia iridis Occasional (29-5%)
HP:0001909 Leukemia Occasional (29-5%)
HP:0002665 Lymphoma Occasional (29-5%)
HP:0002669 Osteosarcoma Occasional (29-5%)
HP:0002859 Rhabdomyosarcoma Occasional (29-5%)
HP:0002861 Melanoma Occasional (29-5%)
HP:0007663 Reduced visual acuity Occasional (29-5%)
HP:0007703 Abnormality of retinal pigmentation Occasional (29-5%)
HP:0007862 Retinal calcification Occasional (29-5%)
HP:0007902 Vitreous hemorrhage Occasional (29-5%)
HP:0011886 Hyphema Occasional (29-5%)
HP:0012372 Abnormal eye morphology Occasional (29-5%)
HP:0025244 Subretinal pigment epithelium hemorrhage Occasional (29-5%)
HP:0025337 Red eye Occasional (29-5%)
HP:0100243 Leiomyosarcoma Occasional (29-5%)
HP:0100658 Cellulitis Occasional (29-5%)
HP:0000175 Cleft palate Very rare (4-1%)
HP:0009733 Glioma Very rare (4-1%)
HP:0012254 Ewing sarcoma Very rare (4-1%)
HP:0030408 Pineoblastoma Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 136

HPO ID Term # of case reports
HP:0002664 Neoplasm 42
HP:0000555 Leukocoria 22
HP:0000541 Retinal detachment 20
HP:0100242 Sarcoma 20
HP:0002861 Melanoma 19
HP:0030731 Carcinoma 16
HP:0030071 Medulloepithelioma 11
HP:0000518 Cataract 9
HP:0002835 Aspiration 9
HP:0012230 Rhegmatogenous retinal detachment 9
HP:0004376 Neuroblastic tumors 8
HP:0100658 Cellulitis 8
HP:0010566 Hamartoma 7
HP:0000501 Glaucoma 6
HP:0000568 Microphthalmia 6
HP:0012315 Histiocytoma 6
HP:0000589 Coloboma 5
HP:0001028 Hemangioma 5
HP:0001909 Leukemia 5
HP:0011886 Hyphema 5
HP:0030065 Primitive neuroectodermal tumor 5
HP:0031925 Rosette 5
HP:0002023 Anal atresia 4
HP:0002860 Squamous cell carcinoma 4
HP:0031526 Subretinal fluid 4
HP:0000252 Microcephaly 3
HP:0000520 Proptosis 3
HP:0000618 Blindness 3
HP:0002171 Gliosis 3
HP:0007777 Chorioretinal scar 3
HP:0007902 Vitreous hemorrhage 3
HP:0010799 Pinealoma 3
HP:0012056 Cutaneous melanoma 3
HP:0012231 Exudative retinal detachment 3
HP:0025247 Dermoid cyst 3
HP:0025356 Psychomotor retardation 3
HP:0032252 Granuloma 3
HP:0000062 Ambiguous genitalia 2
HP:0000316 Hypertelorism 2
HP:0000486 Strabismus 2
HP:0000488 Retinopathy 2
HP:0000526 Aniridia 2
HP:0000646 Amblyopia 2
HP:0000854 Thyroid adenoma 2
HP:0001012 Multiple lipomas 2
HP:0001289 Confusion 2
HP:0001548 Overgrowth 2
HP:0001903 Anemia 2
HP:0002488 Acute leukemia 2
HP:0002671 Basal cell carcinoma 2
HP:0003764 Nevus 2
HP:0007872 Choroidal hemangioma 2
HP:0011497 Iris neovascularization 2
HP:0012778 Retinal astrocytic hamartoma 2
HP:0030666 Retinal neovascularization 2
HP:0040012 Chromosome breakage 2
HP:0100570 Carcinoid tumor 2
HP:0100699 Scarring 2
HP:0100768 Choriocarcinoma 2
HP:0000028 Cryptorchidism 1
HP:0000047 Hypospadias 1
HP:0000093 Proteinuria 1
HP:0000256 Macrocephaly 1
HP:0000347 Micrognathia 1
HP:0000369 Low-set ears 1
HP:0000421 Epistaxis 1
HP:0000426 Prominent nasal bridge 1
HP:0000505 Visual impairment 1
HP:0000508 Ptosis 1
HP:0000533 Chorioretinal atrophy 1
HP:0000545 Myopia 1
HP:0000565 Esotropia 1
HP:0000577 Exotropia 1
HP:0000587 Abnormality of the optic nerve 1
HP:0000588 Optic nerve coloboma 1
HP:0000639 Nystagmus 1
HP:0000667 Phthisis bulbi 1
HP:0000718 Aggressive behavior 1
HP:0000737 Irritability 1
HP:0000822 Hypertension 1
HP:0000957 Cafe-au-lait spot 1
HP:0000989 Pruritus 1
HP:0001123 Visual field defect 1
HP:0001134 Anterior polar cataract 1
HP:0001138 Optic neuropathy 1
HP:0001159 Syndactyly 1
HP:0001249 Intellectual disability 1
HP:0001250 Seizures 1
HP:0001254 Lethargy 1
HP:0001287 Meningitis 1
HP:0001508 Failure to thrive 1
HP:0001510 Growth delay 1
HP:0001647 Bicuspid aortic valve 1
HP:0001742 Nasal obstruction 1
HP:0001762 Talipes equinovarus 1
HP:0001873 Thrombocytopenia 1
HP:0001880 Eosinophilia 1
HP:0001945 Fever 1
HP:0002014 Diarrhea 1
HP:0002017 Nausea and vomiting 1
HP:0002084 Encephalocele 1
HP:0002315 Headache 1
HP:0002888 Ependymoma 1
HP:0002955 Granulomatosis 1
HP:0007917 Tractional retinal detachment 1
HP:0007973 Retinal dysplasia 1
HP:0009777 Absent thumb 1
HP:0009792 Teratoma 1
HP:0009937 Facial hirsutism 1
HP:0010442 Polydactyly 1
HP:0010923 Anterior subcapsular cataract 1
HP:0011502 Posterior lenticonus 1
HP:0011530 Retinal hole 1
HP:0011532 Subretinal exudate 1
HP:0012032 Lipoma 1
HP:0012108 Open angle glaucoma 1
HP:0012109 Angle closure glaucoma 1
HP:0012114 Endometrial carcinoma 1
HP:0012324 Myeloid leukemia 1
HP:0012378 Fatigue 1
HP:0025318 Ovarian carcinoma 1
HP:0030061 Neuroectodermal neoplasm 1
HP:0030063 Neuroepithelial neoplasm 1
HP:0030084 Clinodactyly 1
HP:0030410 Sebaceous gland carcinoma 1
HP:0030426 Ossifying fibroma 1
HP:0030855 Anterior staphyloma 1
HP:0031615 Hypopyon 1
HP:0031864 Bacteremia 1
HP:0031926 Homer Wright rosette 1
HP:0031927 Flexner-Wintersteiner rosette 1
HP:0032070 Leptomeningeal enhancement 1
HP:0100259 Postaxial polydactyly 1
HP:0100543 Cognitive impairment 1
HP:0100556 Hemiatrophy 1
HP:0200056 Macular scar 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID