MCID: CMB069
MIFTS: 22

Combined Hamartoma of the Retina and Retinal Pigment Epithelium

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Combined Hamartoma of the Retina and Retinal Pigment Epithelium

MalaCards integrated aliases for Combined Hamartoma of the Retina and Retinal Pigment Epithelium:

Name: Combined Hamartoma of the Retina and Retinal Pigment Epithelium 59
Combined Hamartoma of the Retina and Rpe 59
Chr-Rpe 59

Characteristics:

Orphanet epidemiological data:

59
combined hamartoma of the retina and retinal pigment epithelium
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


Summaries for Combined Hamartoma of the Retina and Retinal Pigment Epithelium

MalaCards based summary : Combined Hamartoma of the Retina and Retinal Pigment Epithelium, also known as combined hamartoma of the retina and rpe, is related to neurofibromatosis, type iv, of riccardi and congenital heart defects, hamartomas of tongue, and polysyndactyly. Affiliated tissues include retina and eye, and related phenotypes are blindness and nasolacrimal duct obstruction

Related Diseases for Combined Hamartoma of the Retina and Retinal Pigment Epithelium

Diseases related to Combined Hamartoma of the Retina and Retinal Pigment Epithelium via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, type iv, of riccardi 10.4
2 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4
3 neurofibromatosis, type i 10.2
4 juvenile nasopharyngeal angiofibroma 10.2

Symptoms & Phenotypes for Combined Hamartoma of the Retina and Retinal Pigment Epithelium

Human phenotypes related to Combined Hamartoma of the Retina and Retinal Pigment Epithelium:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000618
2 nasolacrimal duct obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0000579
3 retinal vascular tortuosity 59 32 occasional (7.5%) Occasional (29-5%) HP:0012841
4 exotropia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000577
5 abnormality of the optic disc 59 32 occasional (7.5%) Occasional (29-5%) HP:0012795
6 vitreoretinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007773
7 reduced visual acuity 59 Occasional (29-5%)

Drugs & Therapeutics for Combined Hamartoma of the Retina and Retinal Pigment Epithelium

Search Clinical Trials , NIH Clinical Center for Combined Hamartoma of the Retina and Retinal Pigment Epithelium

Genetic Tests for Combined Hamartoma of the Retina and Retinal Pigment Epithelium

Anatomical Context for Combined Hamartoma of the Retina and Retinal Pigment Epithelium

MalaCards organs/tissues related to Combined Hamartoma of the Retina and Retinal Pigment Epithelium:

41
Retina, Eye

Publications for Combined Hamartoma of the Retina and Retinal Pigment Epithelium

Articles related to Combined Hamartoma of the Retina and Retinal Pigment Epithelium:

(show top 50) (show all 52)
# Title Authors Year
1
OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY EVALUATION OF COMBINED HAMARTOMA OF THE RETINA AND RETINAL PIGMENT EPITHELIUM. ( 29370036 )
2018
2
MultiColor<sup>TM</sup> imaging in combined hamartoma of the retina and retinal pigment epithelium. ( 29789660 )
2018
3
Combined hamartoma of the retina and retinal pigment epithelium with intense pigmentation of the inner retinal layers. ( 30470489 )
2018
4
NOVEL CLASSIFICATION SYSTEM FOR COMBINED HAMARTOMA OF THE RETINA AND RETINAL PIGMENT EPITHELIUM. ( 28098730 )
2017
5
Combined Hamartoma of the Retina and Retinal Pigment Epithelium: An Optical Coherence Tomography-Based Reappraisal. ( 28669779 )
2017
6
Juvenile X-linked retinoschisis presenting as juxtapapillary retinal fold mimicking combined hamartoma of the retina and retinal pigment epithelium. ( 28147237 )
2017
7
Surgical treatment in combined hamartoma of the retina and retinal pigment epithelium. ( 27542525 )
2016
8
Multimodal imaging of combined hamartoma of the retina and retinal pigment epithelium. ( 27874255 )
2016
9
Optical Coherence Tomography Angiography of Combined Hamartoma of the Retina and Retinal Pigment Epithelium. ( 26825528 )
2016
10
Combined hamartoma of the retina and retinal pigment epithelium. ( 28007375 )
2016
11
Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal Membrane. ( 27595027 )
2016
12
Delayed presentation of a peripapillary combined hamartoma of the retina and retinal pigment epithelium. ( 26956569 )
2016
13
Multimodal imaging of combined hamartoma of the retina and retinal pigment epithelium associated with an acquired vitelliform lesion. ( 27847616 )
2015
14
Evolution of focal choroidal excavation underlying combined hamartoma of the retina and retinal pigment epithelium in a child. ( 26198017 )
2015
15
Combined Hamartoma of the Retina and Retinal Pigment Epithelium Leading to the Diagnosis of Neurofibromatosis Type 2. ( 26356002 )
2015
16
Acquired Combined Hamartoma of the Retina and Retinal Pigment Epithelium. ( 26043305 )
2015
17
Combined hamartoma of the retina and retinal pigment epithelium with hypo-autofluorescence and cystic degeneration at the macula. ( 25138752 )
2014
18
Combined hamartoma of the retina and retinal pigment epithelium in branchio-otic syndrome. ( 24698626 )
2014
19
Combined hamartoma of the retina and retinal pigment epithelium: findings on enhanced depth imaging optical coherence tomography in eight eyes. ( 25102194 )
2014
20
Calcification of combined hamartoma of the retina and retinal pigment epithelium over 15A years. ( 23090416 )
2013
21
Spectral-domain optical coherence tomography of combined hamartoma of the retina and retinal pigment epithelium in neurofibromatosis. ( 23372386 )
2013
22
Epiretinal membrane surgery for combined hamartoma of the retina and retinal pigment epithelium: role of multimodal analysis. ( 23378735 )
2013
23
Combined hamartoma of the retina and retinal pigment epithelium. ( 23162024 )
2012
24
Combined hamartoma of the retina and retinal pigment epithelium in a child with branchial cleft cysts. ( 22420620 )
2012
25
Combined hamartoma of the retina and retinal pigment epithelium. ( 22085461 )
2011
26
Combined hamartoma of the retina and retinal pigment epithelium associated with optic coloboma. ( 21468345 )
2011
27
Histologic and immunohistochemical features of an epiretinal membrane overlying a combined hamartoma of the retina and retinal pigment epithelium. ( 25390398 )
2010
28
Vitrectomy, Laser Photocoagulation, and Intravitreal Triamcinolone for Combined Hamartoma of the Retina and Retinal Pigment Epithelium. ( 20337302 )
2010
29
Spectral domain optical coherence tomography of combined hamartoma of the retina and retinal pigment epithelium. ( 19485302 )
2009
30
Surgical outcomes of epiretinal membranes associated with combined hamartoma of the retina and retinal pigment epithelium. ( 19276871 )
2009
31
Coexistence of optic nerve head drusen and combined hamartoma of the retina and retinal pigment epithelium in a Taiwanese male. ( 19289317 )
2009
32
Plasmin-assisted vitrectomy for bilateral combined hamartoma of the retina and retinal pigment epithelium: histopathology, immunohistochemistry, and optical coherence tomography. ( 25391071 )
2009
33
Combined hamartoma of the retina and retinal pigment epithelium in 77 consecutive patients visual outcome based on macular versus extramacular tumor location. ( 18995912 )
2008
34
Pars Plana vitrectomy and epiretinal membrane peeling for vitreoretinal traction associated with combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). ( 17458814 )
2007
35
Photodynamic therapy with Verteporfin for vascular leakage from a combined hamartoma of the retina and retinal pigment epithelium. ( 16626442 )
2006
36
Optical coherence tomographic findings of combined hamartoma of the retina and retinal pigment epithelium in 11 patients. ( 16344451 )
2005
37
Successful treatment of subfoveal choroidal neovascularization associated with combined hamartoma of the retina and retinal pigment epithelium. ( 15234304 )
2004
38
Presumed combined hamartoma of the retina and retinal pigment epithelium with preretinal neovascularization. ( 14644231 )
2003
39
Combined hamartoma of the retina and retinal pigment epithelium: optical coherence tomography. ( 11884885 )
2002
40
Visual improvement after pars plana vitrectomy and membrane peeling for vitreoretinal traction associated with combined hamartoma of the retina and retinal pigment epithelium. ( 11884886 )
2002
41
Visual improvement after pars plana vitrectomy and membrane peeling for vitreoretinal traction associated with combined hamartoma of the retina and retinal pigment epithelium. ( 12476119 )
2002
42
Combined hamartoma of the retina and retinal pigment epithelium associated with juvenile nasopharyngeal angiofibroma. ( 11438076 )
2001
43
Combined hamartoma of the retina and retinal pigment epithelium associated with neurofibromatosis type-1. ( 12201346 )
2001
44
Combined hamartoma of the retina and retinal pigment epithelium as the presenting sign of neurofibromatosis-1. ( 10743927 )
2000
45
Combined hamartoma of the retina and retinal pigment epithelium with full thickness retinal hole and without retinoschisis. ( 11011712 )
2000
46
Photo essay: combined hamartoma of the retina and retinal pigment epithelium in Gorlin syndrome. ( 10900122 )
2000
47
Combined hamartoma of the retina and retinal pigment epithelium: a bilateral presentation. ( 9869468 )
1998
48
Combined hamartoma of the retina and retinal pigment epithelium associated with epiretinal membrane and macular hole. ( 9143046 )
1997
49
Combined hamartoma of the retina and retinal pigment epithelium. ( 8247491 )
1993
50
Combined hamartoma of the retina and retinal pigment epithelium in a patient with neurofibromatosis type 2. ( 1757856 )
1991

Variations for Combined Hamartoma of the Retina and Retinal Pigment Epithelium

Expression for Combined Hamartoma of the Retina and Retinal Pigment Epithelium

Search GEO for disease gene expression data for Combined Hamartoma of the Retina and Retinal Pigment Epithelium.

Pathways for Combined Hamartoma of the Retina and Retinal Pigment Epithelium

GO Terms for Combined Hamartoma of the Retina and Retinal Pigment Epithelium

Sources for Combined Hamartoma of the Retina and Retinal Pigment Epithelium

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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