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 56 29 6
Familial Progressive Retinal Dystrophy-Iris Coloboma-Congenital Cataract Syndrome 58
Retinal Dystrophy and Iris Coloboma with or Without Cataract 56
Rdicc 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
retinal dystrophy and iris coloboma with or without congenital cataract:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 616722
Orphanet 58 ORPHA488197
MedGen 41 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, also known as familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome, is related to cataract. 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

More information from OMIM: 616722

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

Diseases related to Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cataract 9.2 TRPM3 MIR204

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:

31
# Description HPO Frequency HPO Source Accession
1 developmental cataract 31 occasional (7.5%) HP:0000519
2 reduced visual acuity 31 HP:0007663
3 posterior synechiae of the anterior chamber 31 HP:0011484
4 retinal atrophy 31 HP:0001105

Symptoms via clinical synopsis from OMIM:

56
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 29 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:

40
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 PMID Year
1
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. 56 6
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MIR204 NM_001366145.2(TRPM3):c.973+17799C>TSNV Pathogenic 218881 rs767146880 9:73424964-73424964 9:70810048-70810048

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
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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