HBID
MCID: HRD099
MIFTS: 24

Hereditary Benign Intraepithelial Dyskeratosis (HBID) malady

Genetic diseases, Eye diseases, Rare diseases categories

Summaries for Hereditary Benign Intraepithelial Dyskeratosis

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Sources:
48OMIM, 34MalaCards
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MalaCards: Hereditary Benign Intraepithelial Dyskeratosis, also known as hereditary benign corneal intraepithelial dyskeratosis, is related to pachyonychia congenita. An important gene associated with Hereditary Benign Intraepithelial Dyskeratosis is DKBI (Dyskeratosis, hereditary benign intraepithelial). Affiliated tissues include eye and skin.

Description from OMIM:48 127600

Aliases & Classifications for Hereditary Benign Intraepithelial Dyskeratosis

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Sources:
21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
hereditary benign intraepithelial dyskeratosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hereditary benign intraepithelial dyskeratosis 21 23 50 48 63
hereditary benign corneal intraepithelial dyskeratosis 50
dyskeratosis, hereditary benign intraepithelial 48
hbid 50


External Ids:

OMIM48 127600
ICD10 via Orphanet27 Q82.8

Related Diseases for Hereditary Benign Intraepithelial Dyskeratosis

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Sources:
18GeneCards, 19GeneDecks
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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
1pachyonychia congenita10.4

Symptoms for Hereditary Benign Intraepithelial Dyskeratosis

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

127600

Clinical features from OMIM:

127600

Drugs & Therapeutics for Hereditary Benign Intraepithelial Dyskeratosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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:
21GeneTests, 23GTR
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Genetic tests related to Hereditary Benign Intraepithelial Dyskeratosis:

id Genetic test Affiliating Genes
1 Hereditary Benign Intraepithelial Dyskeratosis21 23

Anatomical Context for Hereditary Benign Intraepithelial Dyskeratosis

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Sources:
34MalaCards
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MalaCards organs/tissues related to Hereditary Benign Intraepithelial Dyskeratosis:

34
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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53PubMed
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Articles related to Hereditary Benign Intraepithelial Dyskeratosis:

(show all 15)
idTitleAuthorsYear
1
Clinicopathological features of a suspected case of hereditary benign intraepithelial dyskeratosis with bilateral corneas involved: a case report and mini review. (21993456)
2011
2
Hereditary benign intraepithelial dyskeratosis: case report. (19538374)
2009
3
Hereditary benign intraepithelial dyskeratosis: an evaluation of diagnostic cytology. (18684035)
2008
4
Hereditary benign intraepithelial dyskeratosis: a new case? (17181743)
2007
5
A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis. (11170897)
2001
6
Hereditary benign intraepithelial dyskeratosis: Report of two cases with prominent oral lesions. (11568764)
2001
7
Hereditary benign intraepithelial dyskeratosis. (3827721)
1987
8
Hereditary benign intraepithelial dyskeratosis. A report of two cases from Texas. (7231902)
1981
9
The presence of Candida albicans in hereditary benign intraepithelial dyskeratosis. An ultrastructural observation. (388275)
1979
10
Corneal manifestations of hereditary benign intraepithelial dyskeratosis. (550801)
1979
11
Ultrastructural study of hereditary benign intraepithelial dyskeratosis. (269352)
1977
12
Hereditary benign intraepithelial dyskeratosis. (5640851)
1968
13
HEREDITARY BENIGN INTRAEPITHELIAL DYSKERATOSIS: A LINKAGE STUDY. (14262127)
1965
14
Four hereditary mucosal syndromes: comparative histology and exfoliative cytology of Darier-White's disease, hereditary benign intraepithelial dyskeratosis, white sponge nevus, and pachyonychia congenita. (14007732)
1961
15
Hereditary benign intraepithelial dyskeratosis. II. Oral manifestations and hereditary transmission. (13786059)
1960

Variations for Hereditary Benign Intraepithelial Dyskeratosis

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Expression for genes affiliated with Hereditary Benign Intraepithelial Dyskeratosis

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Sources:
16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet