MCID: DYS096
MIFTS: 19

Dyskeratosis, Hereditary Benign Intraepithelial

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Dyskeratosis, Hereditary Benign Intraepithelial

MalaCards integrated aliases for Dyskeratosis, Hereditary Benign Intraepithelial:

Name: Dyskeratosis, Hereditary Benign Intraepithelial 54 13
Hereditary Benign Intraepithelial Dyskeratosis 24 56 29 69
Hereditary Benign Corneal Intraepithelial Dyskeratosis 56
Dkbi 24
Hbid 56

Characteristics:

Orphanet epidemiological data:

56
hereditary benign intraepithelial dyskeratosis
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

54
Miscellaneous:
some patients report seasonal variation in symptoms
some patients have only ocular involvement or only oral involvement
lesions are present at birth or become apparent in infancy

Inheritance:
autosomal dominant


HPO:

32
dyskeratosis, hereditary benign intraepithelial:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 127600
Orphanet 56 ORPHA352657
UMLS via Orphanet 70 C0265966
ICD10 via Orphanet 34 Q82.8

Summaries for Dyskeratosis, Hereditary Benign Intraepithelial

OMIM : 54
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 association with the conjunctival plaques give the eye an overall red appearance, which accounts for the disease's nickname of 'red eye.' Morphologically, the lesions consist of a dyskeratotic hyperplastic epithelium. The oral lesions, which are typically asymptomatic and may go unrecognized, usually appear as thick, soft, white papules and plaques of various sizes, involving any part of the oral cavity. The ocular manifestations in this condition vary in severity from asymptomatic plaques on the bulbar conjunctiva to complete involvement of the cornea with severe vision loss. Patients commonly complain of symptoms of irritation, such as erythema, itching, excessive lacrimation, and photophobia. Periods of acute intensification of symptoms are common, especially in the spring. The lesions may become apparent in early infancy and may date from birth. The plaques persist throughout life and sometimes progress, but may wax and wane (summary by Witkop et al., 1960; Reed et al., 1979; and Baroni et al., 2009). (127600)

MalaCards based summary : Dyskeratosis, Hereditary Benign Intraepithelial, also known as hereditary benign intraepithelial dyskeratosis, is related to mucositis, and has symptoms including visual impairment, photophobia and oral leukoplakia. An important gene associated with Dyskeratosis, Hereditary Benign Intraepithelial is DKBI (Dyskeratosis, Hereditary Benign Intraepithelial). Affiliated tissues include eye and skin.

Wikipedia : 72 Hereditary benign intraepithelial dyskeratosis is a rareautosomal dominant disease of the conjunctiva... more...

Related Diseases for Dyskeratosis, Hereditary Benign Intraepithelial

Diseases related to Dyskeratosis, Hereditary Benign Intraepithelial via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 mucositis 9.9

Symptoms & Phenotypes for Dyskeratosis, Hereditary Benign Intraepithelial

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin:
clear gelatinous pterygia-like plaques of the nasal and temporal perilimbal bulbar conjunctiva

Head And Neck- Eyes:
excessive lacrimation (in some patients)
photophobia (in some patients)
irritation of eye with itching (in some patients)
asymptomatic (in some patients)
extensive lesions may impair vision (in some patients)
more
Head And Neck- Mouth:
thick soft white papules and plaques of variable size (may be in any part of oral cavity)
oral mucous membrane dyskeratosis resembling leukoplakia (may be in any part of oral cavity)


Clinical features from OMIM:

127600

Human phenotypes related to Dyskeratosis, Hereditary Benign Intraepithelial:

32
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 photophobia 32 occasional (7.5%) HP:0000613
3 oral leukoplakia 32 HP:0002745

Drugs & Therapeutics for Dyskeratosis, Hereditary Benign Intraepithelial

Search Clinical Trials , NIH Clinical Center for Dyskeratosis, Hereditary Benign Intraepithelial

Genetic Tests for Dyskeratosis, Hereditary Benign Intraepithelial

Genetic tests related to Dyskeratosis, Hereditary Benign Intraepithelial:

id Genetic test Affiliating Genes
1 Hereditary Benign Intraepithelial Dyskeratosis 29 24

Anatomical Context for Dyskeratosis, Hereditary Benign Intraepithelial

MalaCards organs/tissues related to Dyskeratosis, Hereditary Benign Intraepithelial:

39
Eye, Skin

Publications for Dyskeratosis, Hereditary Benign Intraepithelial

Variations for Dyskeratosis, Hereditary Benign Intraepithelial

Expression for Dyskeratosis, Hereditary Benign Intraepithelial

Search GEO for disease gene expression data for Dyskeratosis, Hereditary Benign Intraepithelial.

Pathways for Dyskeratosis, Hereditary Benign Intraepithelial

GO Terms for Dyskeratosis, Hereditary Benign Intraepithelial

Sources for Dyskeratosis, Hereditary Benign Intraepithelial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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