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 60
Combined Hamartoma of the Retina and Rpe 60
Chr-Rpe 60

Characteristics:

Orphanet epidemiological data:

60
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: 60  
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 congenital heart defects, hamartomas of tongue, and polysyndactyly and neurofibromatosis, type iv, of riccardi. Affiliated tissues include retina and eye, and related phenotypes are blindness and exotropia

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 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.9
2 neurofibromatosis, type iv, of riccardi 10.5
3 neurofibromatosis, type i 10.2
4 macular holes 10.2
5 juvenile nasopharyngeal angiofibroma 10.2

Graphical network of the top 20 diseases related to Combined Hamartoma of the Retina and Retinal Pigment Epithelium:



Diseases related to Combined Hamartoma of the Retina and Retinal Pigment Epithelium

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:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blindness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000618
2 exotropia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000577
3 nasolacrimal duct obstruction 60 33 occasional (7.5%) Occasional (29-5%) HP:0000579
4 retinal vascular tortuosity 60 33 occasional (7.5%) Occasional (29-5%) HP:0012841
5 abnormality of the optic disc 60 33 occasional (7.5%) Occasional (29-5%) HP:0012795
6 vitreoretinopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007773
7 reduced visual acuity 60 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:

42
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 55)
# Title Authors Year
1
Peripapillary versus macular combined hamartoma of the retina and retinal pigment epithelium: Imaging characteristics. ( 30689986 )
2019
2
Multimodal imaging evaluation of combined hamartoma of the retina and retinal pigment epithelium. ( 30764657 )
2019
3
Case Report: Focal Choroidal Excavation Underlying Combined Hamartoma of the Retina and Retinal Pigment Epithelium. ( 30801498 )
2019
4
OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY EVALUATION OF COMBINED HAMARTOMA OF THE RETINA AND RETINAL PIGMENT EPITHELIUM. ( 29370036 )
2018
5
MultiColor<sup>TM</sup> imaging in combined hamartoma of the retina and retinal pigment epithelium. ( 29789660 )
2018
6
Combined hamartoma of the retina and retinal pigment epithelium with intense pigmentation of the inner retinal layers. ( 30470489 )
2018
7
NOVEL CLASSIFICATION SYSTEM FOR COMBINED HAMARTOMA OF THE RETINA AND RETINAL PIGMENT EPITHELIUM. ( 28098730 )
2017
8
Combined Hamartoma of the Retina and Retinal Pigment Epithelium: An Optical Coherence Tomography-Based Reappraisal. ( 28669779 )
2017
9
Juvenile X-linked retinoschisis presenting as juxtapapillary retinal fold mimicking combined hamartoma of the retina and retinal pigment epithelium. ( 28147237 )
2017
10
Surgical treatment in combined hamartoma of the retina and retinal pigment epithelium. ( 27542525 )
2016
11
Multimodal imaging of combined hamartoma of the retina and retinal pigment epithelium. ( 27874255 )
2016
12
Optical Coherence Tomography Angiography of Combined Hamartoma of the Retina and Retinal Pigment Epithelium. ( 26825528 )
2016
13
Combined hamartoma of the retina and retinal pigment epithelium. ( 28007375 )
2016
14
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
15
Delayed presentation of a peripapillary combined hamartoma of the retina and retinal pigment epithelium. ( 26956569 )
2016
16
Multimodal imaging of combined hamartoma of the retina and retinal pigment epithelium associated with an acquired vitelliform lesion. ( 27847616 )
2015
17
Evolution of focal choroidal excavation underlying combined hamartoma of the retina and retinal pigment epithelium in a child. ( 26198017 )
2015
18
Combined Hamartoma of the Retina and Retinal Pigment Epithelium Leading to the Diagnosis of Neurofibromatosis Type 2. ( 26356002 )
2015
19
Acquired Combined Hamartoma of the Retina and Retinal Pigment Epithelium. ( 26043305 )
2015
20
Combined hamartoma of the retina and retinal pigment epithelium with hypo-autofluorescence and cystic degeneration at the macula. ( 25138752 )
2014
21
Combined hamartoma of the retina and retinal pigment epithelium in branchio-otic syndrome. ( 24698626 )
2014
22
Combined hamartoma of the retina and retinal pigment epithelium: findings on enhanced depth imaging optical coherence tomography in eight eyes. ( 25102194 )
2014
23
Calcification of combined hamartoma of the retina and retinal pigment epithelium over 15A years. ( 23090416 )
2013
24
Spectral-domain optical coherence tomography of combined hamartoma of the retina and retinal pigment epithelium in neurofibromatosis. ( 23372386 )
2013
25
Epiretinal membrane surgery for combined hamartoma of the retina and retinal pigment epithelium: role of multimodal analysis. ( 23378735 )
2013
26
Combined hamartoma of the retina and retinal pigment epithelium. ( 23162024 )
2012
27
Combined hamartoma of the retina and retinal pigment epithelium in a child with branchial cleft cysts. ( 22420620 )
2012
28
Combined hamartoma of the retina and retinal pigment epithelium. ( 22085461 )
2011
29
Combined hamartoma of the retina and retinal pigment epithelium associated with optic coloboma. ( 21468345 )
2011
30
Histologic and immunohistochemical features of an epiretinal membrane overlying a combined hamartoma of the retina and retinal pigment epithelium. ( 25390398 )
2010
31
Vitrectomy, Laser Photocoagulation, and Intravitreal Triamcinolone for Combined Hamartoma of the Retina and Retinal Pigment Epithelium. ( 20337302 )
2010
32
Spectral domain optical coherence tomography of combined hamartoma of the retina and retinal pigment epithelium. ( 19485302 )
2009
33
Surgical outcomes of epiretinal membranes associated with combined hamartoma of the retina and retinal pigment epithelium. ( 19276871 )
2009
34
Coexistence of optic nerve head drusen and combined hamartoma of the retina and retinal pigment epithelium in a Taiwanese male. ( 19289317 )
2009
35
Plasmin-assisted vitrectomy for bilateral combined hamartoma of the retina and retinal pigment epithelium: histopathology, immunohistochemistry, and optical coherence tomography. ( 25391071 )
2009
36
Combined hamartoma of the retina and retinal pigment epithelium in 77 consecutive patients visual outcome based on macular versus extramacular tumor location. ( 18995912 )
2008
37
Pars Plana vitrectomy and epiretinal membrane peeling for vitreoretinal traction associated with combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). ( 17458814 )
2007
38
Photodynamic therapy with Verteporfin for vascular leakage from a combined hamartoma of the retina and retinal pigment epithelium. ( 16626442 )
2006
39
Optical coherence tomographic findings of combined hamartoma of the retina and retinal pigment epithelium in 11 patients. ( 16344451 )
2005
40
Successful treatment of subfoveal choroidal neovascularization associated with combined hamartoma of the retina and retinal pigment epithelium. ( 15234304 )
2004
41
Presumed combined hamartoma of the retina and retinal pigment epithelium with preretinal neovascularization. ( 14644231 )
2003
42
Combined hamartoma of the retina and retinal pigment epithelium: optical coherence tomography. ( 11884885 )
2002
43
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
44
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
45
Combined hamartoma of the retina and retinal pigment epithelium associated with juvenile nasopharyngeal angiofibroma. ( 11438076 )
2001
46
Combined hamartoma of the retina and retinal pigment epithelium associated with neurofibromatosis type-1. ( 12201346 )
2001
47
Combined hamartoma of the retina and retinal pigment epithelium as the presenting sign of neurofibromatosis-1. ( 10743927 )
2000
48
Combined hamartoma of the retina and retinal pigment epithelium with full thickness retinal hole and without retinoschisis. ( 11011712 )
2000
49
Photo essay: combined hamartoma of the retina and retinal pigment epithelium in Gorlin syndrome. ( 10900122 )
2000
50
Combined hamartoma of the retina and retinal pigment epithelium: a bilateral presentation. ( 9869468 )
1998

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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10 dbSNP
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34 ICD10
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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