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 58 76 30 6
Retinal Dystrophy with Early Macular Involvement 58 76
Cord21 58 76
Dystrophy, Cone-Rod, Type 21 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cone-rod dystrophy 21:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cone-Rod Dystrophy 21

UniProtKB/Swiss-Prot : 76 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 fundus dystrophy. 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

Description from OMIM: 616502

Related Diseases for Cone-Rod Dystrophy 21

Symptoms & Phenotypes for Cone-Rod Dystrophy 21

Human phenotypes related to Cone-Rod Dystrophy 21:

33
# Description HPO Frequency HPO Source Accession
1 photophobia 33 occasional (7.5%) HP:0000613
2 nyctalopia 33 occasional (7.5%) HP:0000662
3 reduced visual acuity 33 HP:0007663
4 retinal dystrophy 33 HP:0000556
5 macular atrophy 33 HP:0007401

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
photophobia (in some patients)
night blindness (in some patients)
attenuated retinal vessels
macular atrophy
decreased central vision
more

Clinical features from OMIM:

616502

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 30 DRAM2

Anatomical Context for Cone-Rod Dystrophy 21

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

42
Bone

Publications for Cone-Rod Dystrophy 21

Articles related to Cone-Rod Dystrophy 21:

# Title Authors Year
1
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. ( 25983245 )
2015

Variations for Cone-Rod Dystrophy 21

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

76
# 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

ClinVar genetic disease variations for Cone-Rod Dystrophy 21:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 DRAM2 NM_178454.5(DRAM2): c.494G> A (p.Trp165Ter) single nucleotide variant Pathogenic rs201422368 GRCh37 Chromosome 1, 111663161: 111663161
2 DRAM2 NM_178454.5(DRAM2): c.494G> A (p.Trp165Ter) single nucleotide variant Pathogenic rs201422368 GRCh38 Chromosome 1, 111120539: 111120539
3 DRAM2 NM_178454.5(DRAM2): c.362A> T (p.His121Leu) single nucleotide variant Pathogenic rs786205664 GRCh37 Chromosome 1, 111663293: 111663293
4 DRAM2 NM_178454.5(DRAM2): c.362A> T (p.His121Leu) single nucleotide variant Pathogenic rs786205664 GRCh38 Chromosome 1, 111120671: 111120671
5 DRAM2 NM_178454.5(DRAM2): c.140delG (p.Gly47Valfs) deletion Pathogenic rs746559651 GRCh37 Chromosome 1, 111668908: 111668908
6 DRAM2 NM_178454.5(DRAM2): c.140delG (p.Gly47Valfs) deletion Pathogenic rs746559651 GRCh38 Chromosome 1, 111126286: 111126286
7 DRAM2 NM_178454.5(DRAM2): c.131G> A (p.Ser44Asn) single nucleotide variant Pathogenic rs786205665 GRCh37 Chromosome 1, 111674046: 111674046
8 DRAM2 NM_178454.5(DRAM2): c.131G> A (p.Ser44Asn) single nucleotide variant Pathogenic rs786205665 GRCh38 Chromosome 1, 111131424: 111131424
9 DRAM2 NM_178454.5(DRAM2): c.64_66delGCT (p.Ala22del) deletion Pathogenic rs786205661 GRCh37 Chromosome 1, 111674111: 111674113
10 DRAM2 NM_178454.5(DRAM2): c.64_66delGCT (p.Ala22del) deletion Pathogenic rs786205661 GRCh38 Chromosome 1, 111131489: 111131491
11 DRAM2 NM_178454.5(DRAM2): c.568G> T (p.Glu190Ter) single nucleotide variant Likely pathogenic rs1057516195 GRCh37 Chromosome 1, 111662531: 111662531
12 DRAM2 NM_178454.5(DRAM2): c.568G> T (p.Glu190Ter) single nucleotide variant Likely pathogenic rs1057516195 GRCh38 Chromosome 1, 111119909: 111119909

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
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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