CONE-ROD DYSTROPHY 16

General Information (adopted from Orphanet):

Synonyms, Signs: RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT RETINITIS PIGMENTOSA 64, INCLUDED
CORD16
RP64, INCLUDED
Number of Symptoms 14
OrphanetNr:
OMIM Id: 614500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
2
(HPO:0007401) Macular atrophy 14 / 7739
3
(HPO:0000543) Optic disc pallor rare [HPO:skoehler] 67 / 7739
4
(HPO:0000510) Rod-cone dystrophy 266 / 7739
5
(HPO:0001162) Postaxial hand polydactyly 119 / 7739
6
(HPO:0100259) Postaxial polydactyly rare [HPO:skoehler] 85 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Macular atrophy 5 / 7739
9
(OMIM) Bone spicule-like pigmentation 2 / 7739
10
(OMIM) Attenuation of retinal vessels 5 / 7739
11
(OMIM) Early onset of decreased visual acuity: Nonrecordable cone pattern on electroretinogram 1 / 7739
12
(OMIM) Pigment clumping 2 / 7739
13
(OMIM) Waxy optic disc (in some patients) 1 / 7739
14
(OMIM) Nonrecordable or severely reduced rod pattern on electroretinogram 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, ...
Clinical Description OMIM Estrada-Cuzcano et al. (2012) studied 4 unrelated consanguineous families with retinal dystrophy. Four patients from 2 families were diagnosed with cone-rod dystrophy, and 2 patients from 2 families were diagnosed with retinitis pigmentosa with early macular involvement. Age ...
Molecular genetics OMIM In the proband from a consanguineous family, who had retinitis pigmentosa with early macular involvement, Estrada-Cuzcano et al. (2012) performed genomewide homozygosity mapping followed by targeted next-generation sequencing and identified a homozygous nonsense mutation in the C8ORF37 gene ...