Aliases & Classifications for Cone-Rod Dystrophy 21

MalaCards integrated aliases for Cone-Rod Dystrophy 21:

Name: Cone-Rod Dystrophy 21 57 75 29 6
Retinal Dystrophy with Early Macular Involvement 57 75
Cord21 57 75
Dystrophy, Cone-Rod, Type 21 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cone-rod dystrophy 21:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616502
MeSH 44 D058499

Summaries for Cone-Rod Dystrophy 21

UniProtKB/Swiss-Prot : 75 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 retinitis. 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

Diseases related to Cone-Rod Dystrophy 21 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 16 11.9
2 retinitis 10.1
3 fundus dystrophy 10.1

Symptoms & Phenotypes for Cone-Rod Dystrophy 21

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
decreased central vision
progressive loss of visual acuity
photophobia (in some patients)
night blindness (in some patients)
macular atrophy
more

Clinical features from OMIM:

616502

Human phenotypes related to Cone-Rod Dystrophy 21:

32
# Description HPO Frequency HPO Source Accession
1 photophobia 32 occasional (7.5%) HP:0000613
2 nyctalopia 32 occasional (7.5%) HP:0000662
3 macular atrophy 32 HP:0007401
4 reduced visual acuity 32 HP:0007663

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:

41
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
2
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. ( 22177090 )
2012

Variations for Cone-Rod Dystrophy 21

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 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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