CORD21
MCID: CNR032
MIFTS: 23

Cone-Rod Dystrophy 21 (CORD21)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy 21

MalaCards integrated aliases for Cone-Rod Dystrophy 21:

Name: Cone-Rod Dystrophy 21 57 72 29 6
Retinal Dystrophy with Early Macular Involvement 57 72
Cord21 57 72
Dystrophy, Cone-Rod, Type 21 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
cone-rod dystrophy 21:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 616502
OMIM Phenotypic Series 57 PS120970
MeSH 44 D058499

Summaries for Cone-Rod Dystrophy 21

UniProtKB/Swiss-Prot : 72 Cone-rod dystrophy 21: A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

MalaCards based summary : Cone-Rod Dystrophy 21, also known as retinal dystrophy with early macular involvement, is related to cone-rod dystrophy 16 and cone-rod dystrophy 2. An important gene associated with Cone-Rod Dystrophy 21 is DRAM2 (DNA Damage Regulated Autophagy Modulator 2). Affiliated tissues include bone, and related phenotypes are photophobia and nyctalopia

More information from OMIM: 616502 PS120970

Related Diseases for Cone-Rod Dystrophy 21

Symptoms & Phenotypes for Cone-Rod Dystrophy 21

Human phenotypes related to Cone-Rod Dystrophy 21:

31
# Description HPO Frequency HPO Source Accession
1 photophobia 31 occasional (7.5%) HP:0000613
2 nyctalopia 31 occasional (7.5%) HP:0000662
3 reduced visual acuity 31 HP:0007663
4 retinal dystrophy 31 HP:0000556
5 macular atrophy 31 HP:0007401

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
macular atrophy
photophobia (in some patients)
night blindness (in some patients)
attenuated retinal vessels
decreased central vision
more

Clinical features from OMIM®:

616502 (Updated 05-Apr-2021)

Drugs & Therapeutics for Cone-Rod Dystrophy 21

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 21

Genetic Tests for Cone-Rod Dystrophy 21

Genetic tests related to Cone-Rod Dystrophy 21:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 21 29 DRAM2

Anatomical Context for Cone-Rod Dystrophy 21

MalaCards organs/tissues related to Cone-Rod Dystrophy 21:

40
Bone

Publications for Cone-Rod Dystrophy 21

Articles related to Cone-Rod Dystrophy 21:

# Title Authors PMID Year
1
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. 57 6 61
25983245 2015
2
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene. 57
26720460 2015

Variations for Cone-Rod Dystrophy 21

ClinVar genetic disease variations for Cone-Rod Dystrophy 21:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DRAM2 NM_001349886.1(DRAM2):c.-19del Deletion Pathogenic 192233 rs746559651 GRCh37: 1:111668908-111668908
GRCh38: 1:111126286-111126286
2 DRAM2 NM_178454.5(DRAM2):c.494G>A (p.Trp165Ter) SNV Pathogenic 192239 rs201422368 GRCh37: 1:111663161-111663161
GRCh38: 1:111120539-111120539
3 DRAM2 NM_178454.5(DRAM2):c.131G>A (p.Ser44Asn) SNV Pathogenic 192238 rs786205665 GRCh37: 1:111674046-111674046
GRCh38: 1:111131424-111131424
4 DRAM2 NM_001349886.1(DRAM2):c.-98_-96GCT[1] Microsatellite Pathogenic 192234 rs786205661 GRCh37: 1:111674111-111674113
GRCh38: 1:111131489-111131491
5 DRAM2 NM_178454.5(DRAM2):c.362A>T (p.His121Leu) SNV Pathogenic 192237 rs786205664 GRCh37: 1:111663293-111663293
GRCh38: 1:111120671-111120671
6 DRAM2 NM_178454.5(DRAM2):c.568G>T (p.Glu190Ter) SNV Likely pathogenic 369954 rs1057516195 GRCh37: 1:111662531-111662531
GRCh38: 1:111119909-111119909

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 21:

72
# Symbol AA change Variation ID SNP ID
1 DRAM2 p.Tyr27His VAR_075074 rs786205662
2 DRAM2 p.Ser44Asn VAR_075075 rs786205665
3 DRAM2 p.His121Leu VAR_075077 rs786205664

Expression for Cone-Rod Dystrophy 21

Search GEO for disease gene expression data for Cone-Rod Dystrophy 21.

Pathways for Cone-Rod Dystrophy 21

GO Terms for Cone-Rod Dystrophy 21

Sources for Cone-Rod Dystrophy 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....