MCID: RTN037
MIFTS: 19

Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Retinal Degeneration with Nanophthalmos, Cystic Macular...

MalaCards integrated aliases for Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma:

Name: Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 56 52
Mackay Shek Carr Syndrome 52 71
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome 58
Retinal Degeneration, Nanophthalmos, Glaucoma 52
Mackay-Shek-Carr Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
retinal degeneration-nanophthalmos-glaucoma syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

OMIM 56 267760
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C2931831
Orphanet 58 ORPHA1574
MedGen 41 C2931831
UMLS 71 C2931831

Summaries for Retinal Degeneration with Nanophthalmos, Cystic Macular...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1574 Definition Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive . Visit the Orphanet disease page for more resources.

MalaCards based summary : Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma, also known as mackay shek carr syndrome, is related to macular degeneration, age-related, 1 and intraocular pressure quantitative trait locus. Affiliated tissues include eye and retina, and related phenotypes are abnormal electroretinogram and visual impairment

More information from OMIM: 267760

Related Diseases for Retinal Degeneration with Nanophthalmos, Cystic Macular...

Diseases related to Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 macular degeneration, age-related, 1 10.5
2 intraocular pressure quantitative trait locus 10.5
3 microphthalmia 10.5
4 retinal degeneration 10.5

Symptoms & Phenotypes for Retinal Degeneration with Nanophthalmos, Cystic Macular...

Human phenotypes related to Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
2 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
3 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
4 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
5 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
6 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
7 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
8 nyctalopia 31 HP:0000662
9 glaucoma 31 HP:0000501
10 constriction of peripheral visual field 31 HP:0001133
11 hypermetropia 31 HP:0000540
12 shallow anterior chamber 31 HP:0000594
13 cystoid macular degeneration 31 HP:0008028
14 macular atrophy 31 HP:0007401

Symptoms via clinical synopsis from OMIM:

56
Eyes:
nyctalopia
glaucoma
macular atrophy
nanophthalmos
progressive pigmentary retinal degeneration
more
Lab:
diffuse scleroidal thickening on eye ultrasound
erg shows absent rod signals, with normal cone wave form and near-normal b-wave amplitudes but markedly delayed cone b-wave implicit times, progressing to severely diminished or extinguished electroretinograms

Clinical features from OMIM:

267760

Drugs & Therapeutics for Retinal Degeneration with Nanophthalmos, Cystic Macular...

Search Clinical Trials , NIH Clinical Center for Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma

Genetic Tests for Retinal Degeneration with Nanophthalmos, Cystic Macular...

Anatomical Context for Retinal Degeneration with Nanophthalmos, Cystic Macular...

MalaCards organs/tissues related to Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma:

40
Eye, Retina

Publications for Retinal Degeneration with Nanophthalmos, Cystic Macular...

Articles related to Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma:

# Title Authors PMID Year
1
Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. A new recessive syndrome. 61 56
3827713 1987

Variations for Retinal Degeneration with Nanophthalmos, Cystic Macular...

Expression for Retinal Degeneration with Nanophthalmos, Cystic Macular...

Search GEO for disease gene expression data for Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma.

Pathways for Retinal Degeneration with Nanophthalmos, Cystic Macular...

GO Terms for Retinal Degeneration with Nanophthalmos, Cystic Macular...

Sources for Retinal Degeneration with Nanophthalmos, Cystic Macular...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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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