MCID: RTN200
MIFTS: 14

Retinopathy, Pericentral Pigmentary, Dominant

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Retinopathy, Pericentral Pigmentary, Dominant

MalaCards integrated aliases for Retinopathy, Pericentral Pigmentary, Dominant:

Name: Retinopathy, Pericentral Pigmentary, Dominant 56
Dominant Pericentral Pigmentary Retinopathy 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
retinopathy, pericentral pigmentary, dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110420
OMIM 56 180210
ICD10 32 H35.5
MedGen 41 C1867261

Summaries for Retinopathy, Pericentral Pigmentary, Dominant

Disease Ontology : 12 A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.

MalaCards based summary : Retinopathy, Pericentral Pigmentary, Dominant, is also known as dominant pericentral pigmentary retinopathy. Affiliated tissues include retina, eye and bone, and related phenotypes are blindness and retinopathy

More information from OMIM: 180210

Related Diseases for Retinopathy, Pericentral Pigmentary, Dominant

Symptoms & Phenotypes for Retinopathy, Pericentral Pigmentary, Dominant

Human phenotypes related to Retinopathy, Pericentral Pigmentary, Dominant:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 blindness 31 HP:0000618
2 retinopathy 31 HP:0000488
3 nyctalopia 31 HP:0000662
4 retinal dystrophy 31 HP:0000556
5 pigmentary retinopathy 31 HP:0000580
6 attenuation of retinal blood vessels 31 HP:0007843
7 retinal atrophy 31 HP:0001105
8 bone spicule pigmentation of the retina 31 HP:0007737

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
pigmentary retinal degeneration
retinal atrophy
night blindness
attenuated retinal vessels
pericentral retinal dystrophy
more

Clinical features from OMIM:

180210

Drugs & Therapeutics for Retinopathy, Pericentral Pigmentary, Dominant

Search Clinical Trials , NIH Clinical Center for Retinopathy, Pericentral Pigmentary, Dominant

Genetic Tests for Retinopathy, Pericentral Pigmentary, Dominant

Anatomical Context for Retinopathy, Pericentral Pigmentary, Dominant

MalaCards organs/tissues related to Retinopathy, Pericentral Pigmentary, Dominant:

40
Retina, Eye, Bone

Publications for Retinopathy, Pericentral Pigmentary, Dominant

Articles related to Retinopathy, Pericentral Pigmentary, Dominant:

# Title Authors PMID Year
1
Autosomal recessive pericentral pigmentary retinopathy. 56
3189470 1988
2
Pericentral retinal dystrophy. 56
3618160 1987

Variations for Retinopathy, Pericentral Pigmentary, Dominant

Expression for Retinopathy, Pericentral Pigmentary, Dominant

Search GEO for disease gene expression data for Retinopathy, Pericentral Pigmentary, Dominant.

Pathways for Retinopathy, Pericentral Pigmentary, Dominant

GO Terms for Retinopathy, Pericentral Pigmentary, Dominant

Sources for Retinopathy, Pericentral Pigmentary, Dominant

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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