Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis

General Information (adopted from Orphanet):

Synonyms, Signs: CIDED
Number of Symptoms 21
OrphanetNr: 352662
OMIM Id: 615225
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
 -Rare genetic disease
 -Rare skin disease
Superficial corneal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000343) Long philtrum rare [HPO:skoehler] 262 / 7739
2
 (HPO:0000470) Short neck rare [HPO:skoehler] 345 / 7739
3
 (HPO:0011496) Corneal neovascularization 7 / 7739
4
 (HPO:0006094) Finger joint hypermobility rare [HPO:skoehler] 2 / 7739
5
 (HPO:0001036) Parakeratosis 12 / 7739
6
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
7
 (HPO:0008404) Nail dystrophy rare [HPO:skoehler] 89 / 7739
8
 (HPO:0000982) Palmoplantar keratoderma 40 / 7739
9
 (HPO:0000956) Acanthosis nigricans 54 / 7739
10
 (OMIM) Raspy voice (in some patients) 1 / 7739
11
 (OMIM) Stromal inflammatory infiltrate 1 / 7739
12
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
 (MedDRA:10023365) Keratopathy 2 / 7739
14
 (OMIM) Corneal dyskeratosis 1 / 7739
15
 (OMIM) Dyskeratotic keratinization 1 / 7739
16
 (OMIM) Prominent thickening of nail beds (in some patients) 1 / 7739
17
 (OMIM) Pruritic hyperkeratotic scars (in some patients) 1 / 7739
18
 (OMIM) Maxillary decalcification (in some patients) 1 / 7739
19
 (OMIM) Epithelial dyskeratosis of vocal cords (in some patients) 1 / 7739
20
 (OMIM) Bowman membrane absent 1 / 7739
21
 (OMIM) Alveolitis leading to tooth loss (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Soler et al. (2013) described a Caucasian French mother and son who had corneal intraepithelial dyskeratosis and palmoplantar hyperkeratosis. At 27 years of age, the mother presented with unilateral keratopathy with neovascularization and complete corneal opacification. In addition, ...
Molecular genetics OMIM In an affected mother and son from a Caucasian French family segregating corneal intraepithelial dyskeratosis and ectodermal dysplasia, Soler et al. (2013) excluded duplication at chromosome 4q35. Filtered exome sequencing followed by Sanger sequencing identified a heterozygous missense ...