MCID: ISL012
MIFTS: 19

Isolated Congenital Digital Clubbing malady

Genetic diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases categories

Summaries for Isolated Congenital Digital Clubbing

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Sources:
48OMIM, 34MalaCards
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MalaCards: Isolated Congenital Digital Clubbing, is also known as digital clubbing, isolated congenital An important gene associated with Isolated Congenital Digital Clubbing is HPGD (hydroxyprostaglandin dehydrogenase 15-(NAD)). Affiliated tissues include bone and skin.

Description from OMIM:48 119900

Aliases & Classifications for Isolated Congenital Digital Clubbing

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



Characteristics (Orphanet epidemiological data):

50
isolated congenital digital clubbing:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

isolated congenital digital clubbing 21 23 50
digital clubbing, isolated congenital 48 63
osteoarthropathy, secondary hypertrophic 63
isolated congenital nail clubbing 50
isolated congenital acropachy 50


External Ids:

OMIM48 119900
ICD10 via Orphanet27 Q68.1

Related Diseases for Isolated Congenital Digital Clubbing

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Symptoms for Isolated Congenital Digital Clubbing

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

119900

Clinical features from OMIM:

119900

Drugs & Therapeutics for Isolated Congenital Digital Clubbing

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to Isolated Congenital Digital Clubbing:

id Genetic test Affiliating Genes
1 Isolated Congenital Digital Clubbing21 HPGD
2 Digital Clubbing, Isolated Congenital23

Anatomical Context for Isolated Congenital Digital Clubbing

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Sources:
34MalaCards
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MalaCards organs/tissues related to Isolated Congenital Digital Clubbing:

34
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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Variations for Isolated Congenital Digital Clubbing

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Isolated Congenital Digital Clubbing:

65
id Symbol AA change Variation ID SNP ID
1HPGDp.Ser193ProVAR_060792

Clinvar genetic disease variations for Isolated Congenital Digital Clubbing:

1
id Gene Name Type Significance SNP ID Assembly Location
1HPGDNM_000860.5(HPGD): c.577T> C (p.Ser193Pro)single nucleotide variantPathogenicrs121434481GRCh37Chr 4, 175414387: 175414387

Expression for genes affiliated with Isolated Congenital Digital Clubbing

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Isolated Congenital Digital Clubbing

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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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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