MCID: CNR029
MIFTS: 16

Cone-Rod Dystrophy 19

Categories: Genetic diseases, Eye diseases

Aliases & Classifications for Cone-Rod Dystrophy 19

MalaCards integrated aliases for Cone-Rod Dystrophy 19:

Name: Cone-Rod Dystrophy 19 57 12 75 29 6 73
Cord19 57 12 75
Dystrophy, Cone-Rod, Type 19 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cone-rod dystrophy 19:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615860
Disease Ontology 12 DOID:0111025
MeSH 44 D058499
UMLS 73 C4014501

Summaries for Cone-Rod Dystrophy 19

UniProtKB/Swiss-Prot : 75 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, is also known as cord19. An important gene associated with Cone-Rod Dystrophy 19 is TTLL5 (Tubulin Tyrosine Ligase Like 5). Affiliated tissues include eye, and related phenotypes are cone/cone-rod dystrophy and retinal 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.

Description from OMIM: 615860

Related Diseases for Cone-Rod Dystrophy 19

Symptoms & Phenotypes for Cone-Rod Dystrophy 19

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cone-Rod Dystrophy 19:

32
# Description HPO Frequency HPO Source Accession
1 cone/cone-rod dystrophy 32 HP:0000548
2 retinal dystrophy 32 HP:0000556

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:

41
Eye

Publications for Cone-Rod Dystrophy 19

Variations for Cone-Rod Dystrophy 19

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

75
# Symbol AA change Variation ID SNP ID
1 TTLL5 p.Glu543Lys VAR_071327 rs199882533

ClinVar genetic disease variations for Cone-Rod Dystrophy 19:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTLL5 NM_015072.4(TTLL5): c.1586_1589delAGAG (p.Glu529Valfs) deletion Pathogenic rs587777469 GRCh37 Chromosome 14, 76230993: 76230996
2 TTLL5 NM_015072.4(TTLL5): c.1586_1589delAGAG (p.Glu529Valfs) deletion Pathogenic rs587777469 GRCh38 Chromosome 14, 75764650: 75764653
3 TTLL5 NM_015072.4(TTLL5): c.401delT (p.Leu134Argfs) deletion Pathogenic rs587777470 GRCh37 Chromosome 14, 76156564: 76156564
4 TTLL5 NM_015072.4(TTLL5): c.401delT (p.Leu134Argfs) deletion Pathogenic rs587777470 GRCh38 Chromosome 14, 75690221: 75690221
5 TTLL5 NM_015072.4(TTLL5): c.3354G> A (p.Trp1118Ter) single nucleotide variant Pathogenic rs587777471 GRCh37 Chromosome 14, 76330037: 76330037
6 TTLL5 NM_015072.4(TTLL5): c.3354G> A (p.Trp1118Ter) single nucleotide variant Pathogenic rs587777471 GRCh38 Chromosome 14, 75863694: 75863694
7 TTLL5 NM_015072.4(TTLL5): c.1627G> T (p.Glu543Ter) single nucleotide variant Pathogenic rs199882533 GRCh37 Chromosome 14, 76231034: 76231034
8 TTLL5 NM_015072.4(TTLL5): c.1627G> T (p.Glu543Ter) single nucleotide variant Pathogenic rs199882533 GRCh38 Chromosome 14, 75764691: 75764691
9 TTLL5 NM_015072.4(TTLL5): c.1627G> A (p.Glu543Lys) single nucleotide variant Pathogenic rs199882533 GRCh37 Chromosome 14, 76231034: 76231034
10 TTLL5 NM_015072.4(TTLL5): c.1627G> A (p.Glu543Lys) single nucleotide variant Pathogenic rs199882533 GRCh38 Chromosome 14, 75764691: 75764691
11 TTLL5 NM_015072.4(TTLL5): c.2312C> G (p.Ser771Ter) single nucleotide variant Likely pathogenic rs886043466 GRCh37 Chromosome 14, 76243118: 76243118
12 TTLL5 NM_015072.4(TTLL5): c.2312C> G (p.Ser771Ter) single nucleotide variant Likely pathogenic rs886043466 GRCh38 Chromosome 14, 75776775: 75776775
13 TTLL5 NM_015072.4(TTLL5): c.1435C> T (p.Arg479Ter) single nucleotide variant Likely pathogenic rs753018563 GRCh37 Chromosome 14, 76211872: 76211872
14 TTLL5 NM_015072.4(TTLL5): c.1435C> T (p.Arg479Ter) single nucleotide variant Likely pathogenic rs753018563 GRCh38 Chromosome 14, 75745529: 75745529
15 TTLL5 NM_015072.4(TTLL5): c.2209C> T (p.Arg737Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 76241899: 76241899
16 TTLL5 NM_015072.4(TTLL5): c.2209C> T (p.Arg737Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 75775556: 75775556
17 TTLL5 NM_015072.4(TTLL5): c.987A> T (p.Glu329Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 76186991: 76186991
18 TTLL5 NM_015072.4(TTLL5): c.987A> T (p.Glu329Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 75720648: 75720648
19 TTLL5 NM_015072.4(TTLL5): c.2782dup (p.Met928Asnfs) duplication Pathogenic GRCh37 Chromosome 14, 76249669: 76249669
20 TTLL5 NM_015072.4(TTLL5): c.2782dup (p.Met928Asnfs) duplication Pathogenic GRCh38 Chromosome 14, 75783326: 75783326

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

Sources for Cone-Rod Dystrophy 19

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