MCID: DYS096
MIFTS: 19

Dyskeratosis, Hereditary Benign Intraepithelial malady

Genetic diseases, Eye diseases, Rare diseases categories

Aliases & Classifications for Dyskeratosis, Hereditary Benign Intraepithelial

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Sources:
49OMIM, 11diseasecard, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Dyskeratosis, Hereditary Benign Intraepithelial:

Name: Dyskeratosis, Hereditary Benign Intraepithelial 49 11 22
Hereditary Benign Intraepithelial Dyskeratosis 51 24 65
Hereditary Benign Corneal Intraepithelial Dyskeratosis 51
 
Dkbi 22
Hbid 51


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

51
hereditary benign intraepithelial dyskeratosis:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 127600
Orphanet51 352657
ICD10 via Orphanet28 Q82.8

Summaries for Dyskeratosis, Hereditary Benign Intraepithelial

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OMIM:49 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, autosomal dominant inheritance and visual impairment. An important gene associated with Dyskeratosis, Hereditary Benign Intraepithelial is DKBI (Dyskeratosis, Hereditary Benign Intraepithelial). Affiliated tissues include eye and skin.

Wikipedia:68 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 congenita10.4

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 autosomal dominant inheritance HP:0000006
3 visual impairment HP:0000505
4 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 Dyskeratosis22 24

Anatomical Context for Dyskeratosis, Hereditary Benign Intraepithelial

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

33
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet