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.

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Narrow down the case reports

Total: 558 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
20 (31.0%)	22505049	13q deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins. De Francesco S, Galluzzi P, Del Longo A, Piozzi E, Renieri A, Menicacci C, Mari F, Munier F, Hadjistilianou T, Mastrangelo D. Eur J Ophthalmol. 2012;22(5):857-60. [ Show abstract ] [ Hide abstract ]
		Cutis marmorata Toe clinodactyly
		RB1

		Atrial Septal Defects Chromosome Deletion Chromosomes, Human, Pair 13 Diseases in Twins Females Homo sapiens Infant, Newborn Magnetic Resonance Imaging Nucleic Acid Amplification Techniques Retinal Neoplasms Retinoblastoma
20 (31.0%)	11167295	Retinoblastoma with an unusual presentation in a child with polydactyly. Clinical associations and genetic implications. Tsinopoulos I, Papadopoulou V, Papandroudis A, Stangos N. Acta Ophthalmol Scand. 2001;79(1):79-80. [ Show abstract ] [ Hide abstract ]
		Polydactyly
		RB1

		Homo sapiens Infant Magnetic Resonance Imaging Male Mutation Neoplasm Invasiveness Polydactyly Retinal Neoplasms Retinoblastoma Retinoblastoma Protein Ultrasonography
20 (31.0%)	7161117	Retinoblastoma and chromosome 13 deletion. Gencik A, Auf der Maur P, Gencikova A, Lutschg J. Helv Paediatr Acta. 1982;37(5):457-64. [ Show abstract ] [ Hide abstract ]
		Hypertelorism Syndactyly


		Chromosome Deletion Chromosomes, Human, 13-15 Eye Neoplasms Females Homo sapiens Infant Infant, Newborn Male Retinoblastoma
24 (29.2%)	12784574	[Solitary retinal astrocytic hamartoma simulating retinoblastoma]. Hajji Z, Charif CM, Boulanouar A, Benchrifa F, Berraho A. Bull Soc Belge Ophtalmol. 2003;(287):19-23. [ Show abstract ] [ Hide abstract ]
		Retinal astrocytic hamartoma


		Calcinosis Differential Diagnosis Females Hamartoma Homo sapiens Infant Retinal Diseases Retinoblastoma
24 (29.2%)	10408465	Retinal hamartoma in oral-facial-digital syndrome. Tsai PS, O'Brien JM. Arch Ophthalmol. 1999;117(7):963-5. [ Show abstract ] [ Hide abstract ]
		Optic nerve coloboma Retinal hamartoma


		Eye Abnormalities Hamartoma Homo sapiens Infant Male Orofaciodigital Syndromes Retinal Diseases
24 (29.2%)	9430064	Tuberous sclerosis in infancy. Mullaney PB, Jacquemin C, Abboud E, Karcioglu ZA. J Pediatr Ophthalmol Strabismus. 1997;34(6):372-5. [ Show abstract ] [ Hide abstract ]
		Coloboma Retinal hamartoma


		Differential Diagnosis Echoencephalography Females Follow-Up Studies Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Male Retinal Diseases Retinal Neoplasms Retinoblastoma Tuberous Sclerosis X-Ray Computed Tomography
24 (29.2%)	8643253	Atypical retinal astrocytic hamartoma diagnosed by fine-needle biopsy. Shields JA, Shields CL, Ehya H, Buckley E, De Potter P. Ophthalmology. 1996;103(6):949-52. [ Show abstract ] [ Hide abstract ]
		Retinal detachment Retinal astrocytic hamartoma


		Astrocytes Differential Diagnosis Eye Abnormalities Eye Neoplasms Fluorescein Angiography Hamartoma Homo sapiens Infant Male Retina Retinal Detachment Retinoblastoma
28 (27.8%)	23811674	Abnormal odontogenesis following management of childhood cancer (retinoblastoma): review and a new variant. Venkataraghavan K, Patil S, Guvva S, Karthik S, Bhandi S. J Contemp Dent Pract. 2013;14(2):360-4. [ Show abstract ] [ Hide abstract ]
		Microdontia


		Chemotherapy, Adjuvant Child Females Homo sapiens Malocclusion Neoadjuvant Therapy Odontogenesis Patient Care Planning Radiotherapy, Adjuvant Retinal Neoplasms Retinoblastoma
29 (26.3%)	30250511 (6148795)	13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature. Bestetti I, Sironi A, Catusi I, Mariani M, Giardino D, Manoukian S, Milani D, Larizza L, Castronovo C, Finelli P. Mol Cytogenet. 2018;11:53. [ Show abstract ] [ Hide abstract ]
		Round face
		RB1


29 (26.3%)	24084617	Emergency department bedside ultrasound diagnosis of retinoblastoma in a child. Presley BC, Flannigan MJ. Pediatr Emerg Care. 2013;29(10):1128-31. [ Show abstract ] [ Hide abstract ]
		Proptosis Periorbital edema


		Blindness Brain Neoplasms Calcinosis Child, Preschool Developing Countries Diagnostic Errors Exophthalmos Eye Neoplasms Haiti Homo sapiens Male Neoplasms, Multiple Primary Point-of-Care Systems Retinoblastoma Ultrasonography X-Ray Computed Tomography

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