HBID
MCID: HRD099
MIFTS: 24

Hereditary Benign Intraepithelial Dyskeratosis (HBID) malady

Genetic diseases, Eye diseases, Rare diseases categories
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Summaries for Hereditary Benign Intraepithelial Dyskeratosis

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MalaCards based summary: Hereditary Benign Intraepithelial Dyskeratosis, also known as hereditary benign corneal intraepithelial dyskeratosis, is related to pachyonychia congenita, and has symptoms including 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, 48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet
See all sources

Hereditary Benign Intraepithelial Dyskeratosis, Aliases & Descriptions:

Name: Hereditary Benign Intraepithelial Dyskeratosis 20 22 48 46 62
Hereditary Benign Corneal Intraepithelial Dyskeratosis 48
 
Dyskeratosis, Hereditary Benign Intraepithelial 46
Hbid 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 127600
ICD10 via Orphanet26 Q82.8

Related Diseases for Hereditary Benign Intraepithelial Dyskeratosis

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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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Symptoms by clinical synopsis from OMIM:

127600

Clinical features from OMIM:

127600

HPO human phenotypes related to Hereditary Benign Intraepithelial Dyskeratosis:

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 Hereditary Benign Intraepithelial Dyskeratosis

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Drug clinical trials:

Search ClinicalTrials for Hereditary Benign Intraepithelial Dyskeratosis

Search NIH Clinical Center for Hereditary Benign Intraepithelial Dyskeratosis

Genetic Tests for Hereditary Benign Intraepithelial Dyskeratosis

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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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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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Articles related to Hereditary Benign Intraepithelial Dyskeratosis:

(show all 16)
idTitleAuthorsYear
1
Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity. (24555743)
2014
2
Clinicopathological features of a suspected case of hereditary benign intraepithelial dyskeratosis with bilateral corneas involved: a case report and mini review. (21993456)
2011
3
Hereditary benign intraepithelial dyskeratosis: case report. (19538374)
2009
4
Hereditary benign intraepithelial dyskeratosis: an evaluation of diagnostic cytology. (18684035)
2008
5
Hereditary benign intraepithelial dyskeratosis: a new case? (17181743)
2007
6
A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis. (11170897)
2001
7
Hereditary benign intraepithelial dyskeratosis: Report of two cases with prominent oral lesions. (11568764)
2001
8
Hereditary benign intraepithelial dyskeratosis. (3827721)
1987
9
Hereditary benign intraepithelial dyskeratosis. A report of two cases from Texas. (7231902)
1981
10
The presence of Candida albicans in hereditary benign intraepithelial dyskeratosis. An ultrastructural observation. (388275)
1979
11
Corneal manifestations of hereditary benign intraepithelial dyskeratosis. (550801)
1979
12
Ultrastructural study of hereditary benign intraepithelial dyskeratosis. (269352)
1977
13
Hereditary benign intraepithelial dyskeratosis. (5640851)
1968
14
HEREDITARY BENIGN INTRAEPITHELIAL DYSKERATOSIS: A LINKAGE STUDY. (14262127)
1965
15
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
16
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet