MCID: DYS096
MIFTS: 18

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 50 12
Hereditary Benign Intraepithelial Dyskeratosis 23 52 25 66
Hereditary Benign Corneal Intraepithelial Dyskeratosis 52
 
Hbid 52
Dkbi 23

Characteristics:

Orphanet epidemiological data:

52
hereditary benign intraepithelial dyskeratosis:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

62
dyskeratosis, hereditary benign intraepithelial:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 127600
Orphanet52 ORPHA352657
ICD10 via Orphanet29 Q82.8

Summaries for Dyskeratosis, Hereditary Benign Intraepithelial

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OMIM:50 Hereditary benign intraepithelial dyskeratosis (HBID) is a rare inherited disease characterized by elevated plaques on... (127600) more...

MalaCards based summary: Dyskeratosis, Hereditary Benign Intraepithelial, also known as hereditary benign intraepithelial dyskeratosis, is related to pachyonychia congenita, 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:69 Hereditary benign intraepithelial dyskeratosis is a rareautosomal dominant disease of the conjunctiva... more...

Related Diseases for Dyskeratosis, Hereditary Benign Intraepithelial

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

idRelated DiseaseScoreTop Affiliating Genes
1pachyonychia congenita10.1

Symptoms for Dyskeratosis, Hereditary Benign Intraepithelial

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Symptoms by clinical synopsis from OMIM:

127600

Clinical features from OMIM:

127600

HPO human phenotypes related to Dyskeratosis, Hereditary Benign Intraepithelial:

id Description Frequency HPO Source Accession
1 photophobia rare (5%) HP:0000613
2 visual impairment HP:0000505
3 oral leukoplakia 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 Dyskeratosis25 23

Anatomical Context for Dyskeratosis, Hereditary Benign Intraepithelial

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

34
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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet