RDICC
MCID: RTN211
MIFTS: 17

Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract (RDICC)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinal Dystrophy and Iris Coloboma with or Without Congenital...

MalaCards integrated aliases for Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract:

Name: Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract 58 30 6
Familial Progressive Retinal Dystrophy-Iris Coloboma-Congenital Cataract Syndrome 60
Retinal Dystrophy and Iris Coloboma with or Without Cataract 58
Rdicc 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on report of one 5-generation family (last curated december 2015)


HPO:

33
retinal dystrophy and iris coloboma with or without congenital cataract:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 616722
Orphanet 60 ORPHA488197
MedGen 43 C4225233

Summaries for Retinal Dystrophy and Iris Coloboma with or Without Congenital...

MalaCards based summary : Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract, is also known as familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome. An important gene associated with Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract is MIR204 (MicroRNA 204). Affiliated tissues include eye, and related phenotypes are developmental cataract and reduced visual acuity

Description from OMIM: 616722

Related Diseases for Retinal Dystrophy and Iris Coloboma with or Without Congenital...

Symptoms & Phenotypes for Retinal Dystrophy and Iris Coloboma with or Without Congenital...

Human phenotypes related to Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract:

33
# Description HPO Frequency HPO Source Accession
1 developmental cataract 33 occasional (7.5%) HP:0000519
2 reduced visual acuity 33 HP:0007663
3 retinal atrophy 33 HP:0001105
4 posterior synechiae of the anterior chamber 33 HP:0011484

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
retinal atrophy
decreased visual acuity
congenital cataract (in some patients)
decreased color vision
iridolenticular adhesions
more

Clinical features from OMIM:

616722

Drugs & Therapeutics for Retinal Dystrophy and Iris Coloboma with or Without Congenital...

Search Clinical Trials , NIH Clinical Center for Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract

Genetic Tests for Retinal Dystrophy and Iris Coloboma with or Without Congenital...

Genetic tests related to Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract:

# Genetic test Affiliating Genes
1 Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract 30 MIR204

Anatomical Context for Retinal Dystrophy and Iris Coloboma with or Without Congenital...

MalaCards organs/tissues related to Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract:

42
Eye

Publications for Retinal Dystrophy and Iris Coloboma with or Without Congenital...

Articles related to Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract:

# Title Authors Year
1
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. ( 26056285 )
2015

Variations for Retinal Dystrophy and Iris Coloboma with or Without Congenital...

ClinVar genetic disease variations for Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MIR204 NR_029621.1(MIR204): n.37C> T single nucleotide variant Pathogenic rs767146880 GRCh38 Chromosome 9, 70810048: 70810048
2 MIR204 NR_029621.1(MIR204): n.37C> T single nucleotide variant Pathogenic rs767146880 GRCh37 Chromosome 9, 73424964: 73424964

Expression for Retinal Dystrophy and Iris Coloboma with or Without Congenital...

Search GEO for disease gene expression data for Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract.

Pathways for Retinal Dystrophy and Iris Coloboma with or Without Congenital...

GO Terms for Retinal Dystrophy and Iris Coloboma with or Without Congenital...

Sources for Retinal Dystrophy and Iris Coloboma with or Without Congenital...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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