Hereditary benign intraepithelial dyskeratosis

General Information (adopted from Orphanet):

Synonyms, Signs: HBID
DKBI
Hereditary benign corneal intraepithelial dyskeratosis
Number of Symptoms 13
OrphanetNr: 352657
OMIM Id: 127600
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Superficial corneal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0002745) Oral leukoplakia 17 / 7739
2
(HPO:0000613) Photophobia rare [HPO:skoehler] 158 / 7739
3
(HPO:0000505) Visual impairment 297 / 7739
4
(OMIM) Extensive lesions may impair vision (in some patients) 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Irritation of eye with itching (in some patients) 1 / 7739
7
(OMIM) Thick soft white papules and plaques of variable size (may be in any part of oral cavity) 1 / 7739
8
(OMIM) Asymptomatic (easy bruisability, postoperative hemorrhage) 2 / 7739
9
(OMIM) Lesions may involve cornea (in some patients) 1 / 7739
10
(OMIM) Clear gelatinous pterygia-like plaques of the nasal and temporal perilimbal bulbar conjunctiva 1 / 7739
11
(OMIM) Oral mucous membrane dyskeratosis resembling leukoplakia (may be in any part of oral cavity) 1 / 7739
12
(OMIM) Excessive lacrimation (in some patients) 1 / 7739
13
(OMIM) Dilated superficial vessels give 'red eye' appearance 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary benign intraepithelial dyskeratosis (HBID) is a rare inherited disease characterized by elevated plaques on the ocular and oral mucous membranes. The bulbar conjunctiva is involved, especially in the nasal and temporal perilimbal region. Dilated superficial vessels in ...
Clinical Description OMIM Von Sallmann and Paton (1959, 1960) studied members of a large, triracial, consanguineous North Carolinian isolate population, so-called 'Halowar Indians,' who had dyskeratosis of the conjunctival epithelium. Of approximately 309 individuals who were examined, 74 were affected and ...
Molecular genetics OMIM - Exclusion Studies

In 4 Native Americans with HBID, Soler et al. (2013) analyzed the NLRP1 gene (606636), mutation in which had been found to cause corneal intraepithelial dyskeratosis and ectodermal dysplasia (CIDED; 615225), but detected ...