MCID: RTN037
MIFTS: 13

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

Categories: Rare diseases, Eye diseases

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

Aliases & Descriptions for Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma:

Name: Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 54 50
Mackay Shek Carr Syndrome 50 69
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome 56
Retinal Degeneration, Nanophthalmos, Glaucoma 50
Mackay-Shek-Carr Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
retinal degeneration-nanophthalmos-glaucoma syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

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: 56  
Rare eye diseases


External Ids:

OMIM 54 267760
Orphanet 56 ORPHA1574
ICD10 via Orphanet 34 H35.5

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

MalaCards based summary : Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma, is also known as mackay shek carr syndrome, and has symptoms including nystagmus, visual impairment and optic atrophy. Affiliated tissues include eye.

Description from OMIM: 267760

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

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

Symptoms by clinical synopsis from OMIM:

267760

Clinical features from OMIM:

267760

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

56 32 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 56 32 Occasional (29-5%) HP:0000639
2 visual impairment 56 32 Very frequent (99-80%) HP:0000505
3 optic atrophy 56 32 Very frequent (99-80%) HP:0000648
4 abnormality of retinal pigmentation 56 32 Very frequent (99-80%) HP:0007703
5 abnormal electroretinogram 56 32 Very frequent (99-80%) HP:0000512
6 myopia 56 32 Very frequent (99-80%) HP:0000545
7 microphthalmia 56 32 Very frequent (99-80%) HP:0000568
8 abnormality of metabolism/homeostasis 32 HP:0001939
9 glaucoma 32 HP:0000501
10 retinal degeneration 32 HP:0000546
11 cystoid macular degeneration 32 HP:0008028
12 nyctalopia 32 HP:0000662
13 pigmentary retinal degeneration 32 HP:0001146
14 macular atrophy 32 HP:0007401
15 slitlike anterior chamber angles in children 32 HP:0007756

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:

39
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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....