DKBI
MCID: DYS096
MIFTS: 17

Dyskeratosis, Hereditary Benign Intraepithelial (DKBI) 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 52 12
Hereditary Benign Intraepithelial Dyskeratosis 24 54 27 68
Hereditary Benign Corneal Intraepithelial Dyskeratosis 54
 
Hbid 54
Dkbi 24

Characteristics:

Orphanet epidemiological data:

54
hereditary benign intraepithelial dyskeratosis:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

64
dyskeratosis, hereditary benign intraepithelial:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 127600
Orphanet54 ORPHA352657
ICD10 via Orphanet31 Q82.8

Summaries for Dyskeratosis, Hereditary Benign Intraepithelial

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OMIM:52 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 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:71 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
1mucositis9.9

Symptoms & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 visual impairment64 HP:0000505
2 photophobia64 HP:0000613
3 oral leukoplakia64 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 Dyskeratosis27 24

Anatomical Context for Dyskeratosis, Hereditary Benign Intraepithelial

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

36
Eye, Skin

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet