MCID: RTN037
MIFTS: 18

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

Categories: Rare diseases, Eye 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 57 53
Mackay Shek Carr Syndrome 53 73
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome 59
Retinal Degeneration, Nanophthalmos, Glaucoma 53
Mackay-Shek-Carr Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
retinal degeneration-nanophthalmos-glaucoma syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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: 59  
Rare eye diseases


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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1574Disease definitionRetinal degeneration-nanophthalmos-glaucomasyndrome 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, is also known as mackay shek carr syndrome. Affiliated tissues include eye, and related phenotypes are visual impairment and abnormal electroretinogram

Description from OMIM: 267760

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

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

Symptoms via clinical synopsis from OMIM:

57
Eyes:
nyctalopia
glaucoma
nanophthalmos
macular atrophy
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

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

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
2 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
3 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
4 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
5 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
6 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
7 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
8 glaucoma 32 HP:0000501
9 hypermetropia 32 HP:0000540
10 shallow anterior chamber 32 HP:0000594
11 nyctalopia 32 HP:0000662
12 constriction of peripheral visual field 32 HP:0001133
13 macular atrophy 32 HP:0007401
14 cystoid macular degeneration 32 HP:0008028

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:

41
Eye

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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