CORD19
MCID: CNR029
MIFTS: 26

Cone-Rod Dystrophy 19 (CORD19)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy 19

MalaCards integrated aliases for Cone-Rod Dystrophy 19:

Name: Cone-Rod Dystrophy 19 56 12 73 29 6 15 71
Cord19 56 12 73
Dystrophy, Cone-Rod, Type 19 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cone-rod dystrophy 19:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111025
OMIM 56 615860
OMIM Phenotypic Series 56 PS120970
MeSH 43 D058499
UMLS 71 C4014501

Summaries for Cone-Rod Dystrophy 19

UniProtKB/Swiss-Prot : 73 Cone-rod dystrophy 19: 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 19, also known as cord19, is related to branchiootic syndrome. An important gene associated with Cone-Rod Dystrophy 19 is TTLL5 (Tubulin Tyrosine Ligase Like 5). Affiliated tissues include eye, and related phenotypes are retinal dystrophy and cone/cone-rod dystrophy

Disease Ontology : 12 A cone-rod dystrophy that has material basis in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24.

More information from OMIM: 615860 PS120970

Related Diseases for Cone-Rod Dystrophy 19

Symptoms & Phenotypes for Cone-Rod Dystrophy 19

Human phenotypes related to Cone-Rod Dystrophy 19:

31
# Description HPO Frequency HPO Source Accession
1 retinal dystrophy 31 HP:0000556
2 cone/cone-rod dystrophy 31 HP:0000548

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cone-first retinal dystrophy
initial disturbance of central vision
high-density concentric perifoveal ring surrounding irregular foveal autofluorescence on autofluorescence imaging of fundus
photoreceptor loss, primarily in foveal region, on optical coherence tomography

Clinical features from OMIM:

615860

GenomeRNAi Phenotypes related to Cone-Rod Dystrophy 19 according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.5 BCL2L11
2 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.5 TIMM8A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.5 BCL2L11
4 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.5 TIMM8A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.5 BCL2L11
6 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.5 TIMM8A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.5 TIMM8A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.5 TIMM8A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.5 TIMM8A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.5 TIMM8A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.5 BCL2L11
12 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.5 BCL2L11
13 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.5 BCL2L11 TIMM8A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.5 BCL2L11

Drugs & Therapeutics for Cone-Rod Dystrophy 19

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 19

Genetic Tests for Cone-Rod Dystrophy 19

Genetic tests related to Cone-Rod Dystrophy 19:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 19 29 TTLL5

Anatomical Context for Cone-Rod Dystrophy 19

MalaCards organs/tissues related to Cone-Rod Dystrophy 19:

40
Eye

Publications for Cone-Rod Dystrophy 19

Articles related to Cone-Rod Dystrophy 19:

# Title Authors PMID Year
1
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. 56 6
24791901 2014
2
Cone rod dystrophies. 6
17270046 2007
3
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 6
11006213 2000

Variations for Cone-Rod Dystrophy 19

ClinVar genetic disease variations for Cone-Rod Dystrophy 19:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTLL5 NM_015072.5(TTLL5):c.1584_1585AG[1] (p.Glu529fs)short repeat Pathogenic 139513 rs587777469 14:76230991-76230994 14:75764648-75764651
2 TTLL5 NM_015072.5(TTLL5):c.401del (p.Leu134fs)deletion Pathogenic 139514 rs587777470 14:76156564-76156564 14:75690221-75690221
3 TTLL5 NM_015072.5(TTLL5):c.3354G>A (p.Trp1118Ter)SNV Pathogenic 139515 rs587777471 14:76330037-76330037 14:75863694-75863694
4 TTLL5 NM_015072.5(TTLL5):c.1627G>T (p.Glu543Ter)SNV Pathogenic 139516 rs199882533 14:76231034-76231034 14:75764691-75764691
5 TTLL5 NM_015072.5(TTLL5):c.1627G>A (p.Glu543Lys)SNV Pathogenic 139517 rs199882533 14:76231034-76231034 14:75764691-75764691
6 TTLL5 NM_015072.5(TTLL5):c.2782dup (p.Met928fs)duplication Pathogenic 522428 rs1555345387 14:76249668-76249669 14:75783325-75783326
7 TTLL5 NM_015072.5(TTLL5):c.987A>T (p.Glu329Asp)SNV Likely pathogenic 522427 rs1555384338 14:76186991-76186991 14:75720648-75720648

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 19:

73
# Symbol AA change Variation ID SNP ID
1 TTLL5 p.Glu543Lys VAR_071327 rs199882533

Expression for Cone-Rod Dystrophy 19

Search GEO for disease gene expression data for Cone-Rod Dystrophy 19.

Pathways for Cone-Rod Dystrophy 19

GO Terms for Cone-Rod Dystrophy 19

Biological processes related to Cone-Rod Dystrophy 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell cycle GO:0045787 8.96 TBX3 BCL2L11
2 mammary gland development GO:0030879 8.62 TBX3 BCL2L11

Sources for Cone-Rod Dystrophy 19

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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