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 58
Combined Hamartoma of the Retina and Rpe 58
Chr-Rpe 58

Characteristics:

Orphanet epidemiological data:

58
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: 58  
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, eye and heart, 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:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 congenital heart defects, hamartomas of tongue, and polysyndactyly 11.1
2 neurofibromatosis, type iv, of riccardi 10.7
3 retinoblastoma 10.7
4 familial retinoblastoma 10.7
5 retinoschisis 1, x-linked, juvenile 10.5
6 strabismus 10.5
7 malignant choroid melanoma 10.5
8 mechanical strabismus 10.5
9 retinal detachment 10.4
10 leukocoria 10.4
11 retinal vascular disease 10.4
12 overgrowth syndrome 10.4
13 branchiooculofacial syndrome 10.2
14 coloboma of macula 10.2
15 dowling-degos disease 1 10.2
16 suppression amblyopia 10.2
17 amblyopia 10.2
18 retinal ischemia 10.2
19 preretinal fibrosis 10.2
20 hemangioma 10.2
21 astrocytoma 10.2
22 macular retinal edema 10.2
23 macular holes 10.2
24 ocular hypertension 10.2
25 neurofibroma 10.2
26 vitreous detachment 10.2
27 toxocariasis 10.2
28 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:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
2 exotropia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000577
3 nasolacrimal duct obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000579
4 retinal vascular tortuosity 58 31 occasional (7.5%) Occasional (29-5%) HP:0012841
5 abnormality of the optic disc 58 31 occasional (7.5%) Occasional (29-5%) HP:0012795
6 vitreoretinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007773
7 reduced visual acuity 58 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:

40
Retina, Eye, Heart, Tongue

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 82)
# Title Authors PMID Year
1
The Pearl Necklace Sign in Combined Hamartoma of the Retina and Retinal Pigment Epithelium. 61
31699310 2019
2
OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY EVALUATION OF COMBINED HAMARTOMA OF THE RETINA AND RETINAL PIGMENT EPITHELIUM. 61
29370036 2019
3
A child with unilateral disk elevation. 61
31150657 2019
4
Peripapillary Versus Macular Combined Hamartoma of the Retina and Retinal Pigment Epithelium: Imaging Characteristics. 61
30689986 2019
5
Case Report: Focal Choroidal Excavation Underlying Combined Hamartoma of the Retina and Retinal Pigment Epithelium. 61
30801498 2019
6
Multimodal imaging evaluation of combined hamartoma of the retina and retinal pigment epithelium. 61
30764657 2019
7
Combined hamartoma of the retina and retinal pigment epithelium with intense pigmentation of the inner retinal layers. 61
30470489 2018
8
MultiColorTM imaging in combined hamartoma of the retina and retinal pigment epithelium. 61
29789660 2018
9
OCT Angiography: Imaging of Choroidal and Retinal Tumors. 61
31047615 2018
10
NOVEL CLASSIFICATION SYSTEM FOR COMBINED HAMARTOMA OF THE RETINA AND RETINAL PIGMENT EPITHELIUM. 61
28098730 2018
11
Multimodal imaging of combined hamartoma of the retina and retinal pigment epithelium. 61
27874255 2017
12
Combined Hamartoma of the Retina and Retinal Pigment Epithelium: An Optical Coherence Tomography-Based Reappraisal. 61
28669779 2017
13
Combined hamartoma of the retina and retinal pigment epithelium. 61
28007375 2017
14
Juvenile X-linked retinoschisis presenting as juxtapapillary retinal fold mimicking combined hamartoma of the retina and retinal pigment epithelium. 61
28147237 2017
15
Surgical treatment in combined hamartoma of the retina and retinal pigment epithelium. 61
27542525 2017
16
Tumors and Related Lesions of the Pigmented Epithelium. 61
28399346 2017
17
Optical Coherence Tomography Angiography of Combined Hamartoma of the Retina and Retinal Pigment Epithelium. 61
26825528 2016
18
Delayed presentation of a peripapillary combined hamartoma of the retina and retinal pigment epithelium. 61
26956569 2016
19
LONG-TERM OUTCOME OF EPIRETINAL MEMBRANE SURGERY IN YOUNG CHILDREN. 61
26352556 2016
20
Combined hamartoma of the retina and RPE: A spectrum of presentation with epiretinal membrane masquerade. 61
26874162 2016
21
Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal Membrane. 61
27595027 2016
22
Combined Hamartoma of the Retina and Retinal Pigment Epithelium Leading to the Diagnosis of Neurofibromatosis Type 2. 61
26356002 2015
23
Acquired Combined Hamartoma of the Retina and Retinal Pigment Epithelium. 61
26043305 2015
24
Evolution of focal choroidal excavation underlying combined hamartoma of the retina and retinal pigment epithelium in a child. 61
26198017 2015
25
Mini- and Maxi-peaks of Combined Hamartoma on Enhanced Depth Imaging Optical Coherence Tomography. 61
26176229 2015
26
[Combined hamartoma of the retina and retinal pigment epithelium. Anti-VEGF treatment of the associated choroidal neovascular membranes]. 61
25499584 2015
27
Multimodal imaging of combined hamartoma of the retina and retinal pigment epithelium associated with an acquired vitelliform lesion. 61
27847616 2015
28
Combined hamartoma of the retina and retinal pigment epithelium: findings on enhanced depth imaging optical coherence tomography in eight eyes. 61
25102194 2014
29
Combined hamartoma of the retina and retinal pigment epithelium with hypo-autofluorescence and cystic degeneration at the macula. 61
25138752 2014
30
Combined hamartoma of the retina and retinal pigment epithelium in branchio-otic syndrome. 61
24698626 2014
31
Combined hamartoma of retina and retinal pigment epithelium associated with ipsilateral congenital blepharoptosis: a rare association. 61
25372196 2014
32
Calcification of combined hamartoma of the retina and retinal pigment epithelium over 15 years. 61
23090416 2013
33
Spectral-domain optical coherence tomography of combined hamartoma of the retina and retinal pigment epithelium in neurofibromatosis. 61
23372386 2013
34
Epiretinal membrane surgery for combined hamartoma of the retina and retinal pigment epithelium: role of multimodal analysis. 61
23378735 2013
35
Combined hamartoma of the retina and retinal pigment epithelium. 61
23162024 2012
36
Familial bilateral combined hamartoma of retina and retinal pigment epithelium associated with neurofibromatosis 1. 61
23960997 2012
37
Combined hamartoma of the retina and retinal pigment epithelium in a child with branchial cleft cysts. 61
22420620 2012
38
Combined hamartoma of the retina and retinal pigment epithelium. 61
22085461 2011
39
Combined hamartoma of the retina and retinal pigment epithelium associated with optic coloboma. 61
21468345 2011
40
Vitrectomy, Laser Photocoagulation, and Intravitreal Triamcinolone for Combined Hamartoma of the Retina and Retinal Pigment Epithelium. 61
20337302 2010
41
[The other pigmented lesions]. 61
20080320 2010
42
Histologic and immunohistochemical features of an epiretinal membrane overlying a combined hamartoma of the retina and retinal pigment epithelium. 61
25390398 2010
43
Surgical outcomes of epiretinal membranes associated with combined hamartoma of the retina and retinal pigment epithelium. 61
19276871 2009
44
Spectral domain optical coherence tomography of combined hamartoma of the retina and retinal pigment epithelium. 61
19485302 2009
45
[Clinical characteristics of suspected combined hamartoma of the retina and retinal pigment epithelium]. 61
19576062 2009
46
Plasmin-assisted vitrectomy for bilateral combined hamartoma of the retina and retinal pigment epithelium: histopathology, immunohistochemistry, and optical coherence tomography. 61
25391071 2009
47
Coexistence of optic nerve head drusen and combined hamartoma of the retina and retinal pigment epithelium in a Taiwanese male. 61
19289317 2009
48
Combined hamartoma of the retina and retinal pigment epithelium in 77 consecutive patients visual outcome based on macular versus extramacular tumor location. 61
18995912 2008
49
[Combined hamartoma of the retina and retinal pigment epithelium diagnosed by retinal angiography and optical coherence tomography]. 61
18311679 2008
50
Pars Plana vitrectomy and epiretinal membrane peeling for vitreoretinal traction associated with combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). 61
17458814 2007

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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