MCID: ISL012
MIFTS: 21

Isolated Congenital Digital Clubbing malady

Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Isolated Congenital Digital Clubbing

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Sources:
46OMIM, 32MalaCards
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MalaCards: Isolated Congenital Digital Clubbing, also known as digital clubbing, isolated congenital, is related to secondary hypertrophic osteoarthropathy. An important gene associated with Isolated Congenital Digital Clubbing is HPGD (hydroxyprostaglandin dehydrogenase 15-(NAD)). Affiliated tissues include bone and skin.

Description from OMIM:46 119900

Aliases & Classifications for Isolated Congenital Digital Clubbing

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

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
isolated congenital digital clubbing:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

isolated congenital digital clubbing 20 22 48
digital clubbing, isolated congenital 46 60
osteoarthropathy, secondary hypertrophic 60
isolated congenital nail clubbing 48
isolated congenital acropachy 48


External Ids:

OMIM46 119900
ICD10 via Orphanet26 Q68.1

Related Diseases for Isolated Congenital Digital Clubbing

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Isolated Congenital Digital Clubbing via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1secondary hypertrophic osteoarthropathy10.6

Clinical Features for Isolated Congenital Digital Clubbing

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Sources:
46OMIM
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Clinical features from OMIM:

119900

Clinical synopsis from OMIM:

119900

Drugs & Therapeutics for Isolated Congenital Digital Clubbing

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

Search CenterWatch for Isolated Congenital Digital Clubbing

Drug clinical trials:

Search ClinicalTrials for Isolated Congenital Digital Clubbing

Search NIH Clinical Center for Isolated Congenital Digital Clubbing

Search CenterWatch for Isolated Congenital Digital Clubbing

Genetic Tests for Isolated Congenital Digital Clubbing

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Isolated Congenital Digital Clubbing:

id Genetic test Affiliating Genes
1 Isolated Congenital Digital Clubbing20 HPGD
2 Digital Clubbing, Isolated Congenital22

Anatomical Context for Isolated Congenital Digital Clubbing

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Sources:
32MalaCards
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MalaCards organs/tissues related to Isolated Congenital Digital Clubbing:

32
Bone, Skin

Animal Models for Isolated Congenital Digital Clubbing or affiliated genes

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Publications for Isolated Congenital Digital Clubbing

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Genetic Variations for Isolated Congenital Digital Clubbing

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Isolated Congenital Digital Clubbing:

62
id Symbol AA change Variation ID SNP ID
1HPGDp.Ser193ProVAR_060792

Expression for genes affiliated with Isolated Congenital Digital Clubbing

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Isolated Congenital Digital Clubbing

Search GEO for disease gene expression data for Isolated Congenital Digital Clubbing.

Pathways for genes affiliated with Isolated Congenital Digital Clubbing

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Compounds for genes affiliated with Isolated Congenital Digital Clubbing

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GO Terms for genes affiliated with Isolated Congenital Digital Clubbing

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Products for genes affiliated with Isolated Congenital Digital Clubbing

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Isolated Congenital Digital Clubbing

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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