MCID: RTN211
MIFTS: 17

Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract

Categories: Genetic diseases, Eye 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 57 29 6
Familial Progressive Retinal Dystrophy-Iris Coloboma-Congenital Cataract Syndrome 59
Retinal Dystrophy and Iris Coloboma with or Without Cataract 57
Rdicc 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
retinal dystrophy and iris coloboma with or without congenital cataract:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 616722
Orphanet 59 ORPHA488197
MedGen 42 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 congenital cataract and retinal atrophy

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...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
decreased visual acuity
decreased color vision
iris colobomata, bilateral
iridolenticular adhesions
mottling of retinal pigment epithelium
more

Clinical features from OMIM:

616722

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

32
# Description HPO Frequency HPO Source Accession
1 congenital cataract 32 occasional (7.5%) HP:0000519
2 retinal atrophy 32 HP:0001105
3 reduced visual acuity 32 HP:0007663
4 posterior synechiae of the anterior chamber 32 HP:0011484

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:

41
Eye

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

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 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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