MCID: DYS096
MIFTS: 20

Dyskeratosis, Hereditary Benign Intraepithelial malady

Genetic diseases, Eye diseases, Rare diseases categories

Summaries for Dyskeratosis, Hereditary Benign Intraepithelial

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OMIM:47 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.

Aliases & Classifications for Dyskeratosis, Hereditary Benign Intraepithelial

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Sources:
47OMIM, 11diseasecard, 22GeneTests, 49Orphanet, 24GTR, 28ICD10 via Orphanet
See all sources

Dyskeratosis, Hereditary Benign Intraepithelial, Aliases & Descriptions:

Name: Dyskeratosis, Hereditary Benign Intraepithelial 47 11 22
Hereditary Benign Intraepithelial Dyskeratosis 49 24
 
Hereditary Benign Corneal Intraepithelial Dyskeratosis 49
Hbid 49


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 49 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

49
hereditary benign intraepithelial dyskeratosis:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM47 127600
Orphanet49 352657
ICD10 via Orphanet28 Q82.8

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/GeneDecks 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 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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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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Products for genes affiliated with Dyskeratosis, Hereditary Benign Intraepithelial

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Dyskeratosis, Hereditary Benign Intraepithelial

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet