HBID
MCID: HRD099
MIFTS: 19

Hereditary Benign Intraepithelial Dyskeratosis (HBID) malady

Eye diseases category

Summaries for Hereditary Benign Intraepithelial Dyskeratosis

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Sources:
46OMIM, 32MalaCards
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MalaCards: Hereditary Benign Intraepithelial Dyskeratosis, also known as hereditary benign corneal intraepithelial dyskeratosis, is related to dyskeratosis congenita and exfoliation syndrome. An important gene associated with Hereditary Benign Intraepithelial Dyskeratosis is DKBI (Dyskeratosis, hereditary benign intraepithelial). Affiliated tissues include eye and skin.

Description from OMIM:46 127600

Aliases & Classifications for Hereditary Benign Intraepithelial Dyskeratosis

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
hereditary benign intraepithelial dyskeratosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hereditary benign intraepithelial dyskeratosis 20 22 48 46 60
hereditary benign corneal intraepithelial dyskeratosis 48
dyskeratosis, hereditary benign intraepithelial 46
hbid 48


External Ids:

OMIM46 127600
ICD10 via Orphanet26 Q82.8

Related Diseases for Hereditary Benign Intraepithelial Dyskeratosis

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hereditary Benign Intraepithelial Dyskeratosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dyskeratosis congenita10.3
2exfoliation syndrome10.3
3pachyonychia congenita10.3

Clinical Features for Hereditary Benign Intraepithelial Dyskeratosis

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Sources:
46OMIM
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Clinical features from OMIM:

127600

Clinical synopsis from OMIM:

127600

Drugs & Therapeutics for Hereditary Benign Intraepithelial Dyskeratosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hereditary Benign Intraepithelial Dyskeratosis

Drug clinical trials:

Search ClinicalTrials for Hereditary Benign Intraepithelial Dyskeratosis

Search NIH Clinical Center for Hereditary Benign Intraepithelial Dyskeratosis

Search CenterWatch for Hereditary Benign Intraepithelial Dyskeratosis

Genetic Tests for Hereditary Benign Intraepithelial Dyskeratosis

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Hereditary Benign Intraepithelial Dyskeratosis:

id Genetic test Affiliating Genes
1 Hereditary Benign Intraepithelial Dyskeratosis20 22

Anatomical Context for Hereditary Benign Intraepithelial Dyskeratosis

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Sources:
32MalaCards
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MalaCards organs/tissues related to Hereditary Benign Intraepithelial Dyskeratosis:

32
Eye, Skin

Animal Models for Hereditary Benign Intraepithelial Dyskeratosis or affiliated genes

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Publications for Hereditary Benign Intraepithelial Dyskeratosis

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Genetic Variations for Hereditary Benign Intraepithelial Dyskeratosis

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Expression for genes affiliated with Hereditary Benign Intraepithelial Dyskeratosis

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Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Hereditary Benign Intraepithelial Dyskeratosis.

Pathways for genes affiliated with Hereditary Benign Intraepithelial Dyskeratosis

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Compounds for genes affiliated with Hereditary Benign Intraepithelial Dyskeratosis

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GO Terms for genes affiliated with Hereditary Benign Intraepithelial Dyskeratosis

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Products for genes affiliated with Hereditary Benign Intraepithelial Dyskeratosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Benign Intraepithelial Dyskeratosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet