MCID: DYS096
MIFTS: 18

Dyskeratosis, Hereditary Benign Intraepithelial malady

Genetic diseases, Eye diseases, Rare diseases categories

Aliases & Classifications for Dyskeratosis, Hereditary Benign Intraepithelial

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Sources:
46OMIM, 9diseasecard, 20GeneTests, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Dyskeratosis, Hereditary Benign Intraepithelial:

Name: Dyskeratosis, Hereditary Benign Intraepithelial 46 9 20
Hereditary Benign Intraepithelial Dyskeratosis 48 22 61
 
Hereditary Benign Corneal Intraepithelial Dyskeratosis 48
Hbid 48


Classifications:

Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
hereditary benign intraepithelial dyskeratosis:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM46 127600
Orphanet48 352657
ICD10 via Orphanet26 Q82.8

Summaries for Dyskeratosis, Hereditary Benign Intraepithelial

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OMIM:46 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.

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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Drug clinical trials:

Search ClinicalTrials for Dyskeratosis, Hereditary Benign Intraepithelial

Search 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 Dyskeratosis20 22

Anatomical Context for Dyskeratosis, Hereditary Benign Intraepithelial

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

31
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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet