MCID: DYS096
MIFTS: 16

Dyskeratosis, Hereditary Benign Intraepithelial malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Dyskeratosis, Hereditary Benign Intraepithelial

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Aliases & Descriptions for Dyskeratosis, Hereditary Benign Intraepithelial:

Name: Dyskeratosis, Hereditary Benign Intraepithelial 51 12
Hereditary Benign Intraepithelial Dyskeratosis 24 53 26 67
Hereditary Benign Corneal Intraepithelial Dyskeratosis 53
 
Hbid 53
Dkbi 24

Characteristics:

Orphanet epidemiological data:

53
hereditary benign intraepithelial dyskeratosis:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

63
dyskeratosis, hereditary benign intraepithelial:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare eye diseases


External Ids:

OMIM51 127600
Orphanet53 ORPHA352657
ICD10 via Orphanet30 Q82.8

Summaries for Dyskeratosis, Hereditary Benign Intraepithelial

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OMIM:51 Hereditary benign intraepithelial dyskeratosis (HBID) is a rare inherited disease characterized by elevated plaques on... (127600) more...

MalaCards based summary: Dyskeratosis, Hereditary Benign Intraepithelial, is also known as hereditary benign intraepithelial dyskeratosis, and has symptoms including photophobia, visual impairment 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:70 Hereditary benign intraepithelial dyskeratosis is a rareautosomal dominant disease of the conjunctiva... more...

Related Diseases for Dyskeratosis, Hereditary Benign Intraepithelial

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Symptoms for Dyskeratosis, Hereditary Benign Intraepithelial

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Symptoms by clinical synopsis from OMIM:

127600

Clinical features from OMIM:

127600

Human phenotypes related to Dyskeratosis, Hereditary Benign Intraepithelial:

 63
id Description HPO Frequency HPO Source Accession
1 photophobia63 rare (5%) HP:0000613
2 visual impairment63 HP:0000505
3 oral leukoplakia63 HP:0002745

Drugs & Therapeutics for Dyskeratosis, Hereditary Benign Intraepithelial

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Interventional clinical trials:

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

Genetic Tests for Dyskeratosis, Hereditary Benign Intraepithelial

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Genetic tests related to Dyskeratosis, Hereditary Benign Intraepithelial:

id Genetic test Affiliating Genes
1 Hereditary Benign Intraepithelial Dyskeratosis26 24

Anatomical Context for Dyskeratosis, Hereditary Benign Intraepithelial

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

35
Eye, Skin

Animal Models for Dyskeratosis, Hereditary Benign Intraepithelial or affiliated genes

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Publications for Dyskeratosis, Hereditary Benign Intraepithelial

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Variations for Dyskeratosis, Hereditary Benign Intraepithelial

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Expression for genes affiliated with Dyskeratosis, Hereditary Benign Intraepithelial

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

Pathways for genes affiliated with Dyskeratosis, Hereditary Benign Intraepithelial

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GO Terms for genes affiliated with Dyskeratosis, Hereditary Benign Intraepithelial

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Sources for Dyskeratosis, Hereditary Benign Intraepithelial

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet