MCID: DGT002
MIFTS: 17

Digital Clubbing, Isolated Congenital malady

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

Summaries for Digital Clubbing, Isolated Congenital

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OMIM:45 Digital clubbing is characterized by enlargement of the nail plate and terminal segments of the fingers and toes,... (119900) more...

MalaCards based summary: Digital Clubbing, Isolated Congenital, is also known as isolated congenital digital clubbing, and has symptoms including autosomal dominant inheritanceand clubbing. An important gene associated with Digital Clubbing, Isolated Congenital is HPGD (hydroxyprostaglandin dehydrogenase 15-(NAD)). Affiliated tissues include bone and skin.

Aliases & Classifications for Digital Clubbing, Isolated Congenital

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Sources:
45OMIM, 10diseasecard, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Digital Clubbing, Isolated Congenital, Aliases & Descriptions:

Name: Digital Clubbing, Isolated Congenital 45 10 20 60
Isolated Congenital Digital Clubbing 47 22
 
Isolated Congenital Nail Clubbing 47
Isolated Congenital Acropachy 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
isolated congenital digital clubbing:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 119900
Orphanet47 217059
ICD10 via Orphanet26 Q68.1

Related Diseases for Digital Clubbing, Isolated Congenital

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Symptoms for Digital Clubbing, Isolated Congenital

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Symptoms by clinical synopsis from OMIM:

119900

Clinical features from OMIM:

119900

HPO human phenotypes related to Digital Clubbing, Isolated Congenital:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 clubbing HP:0001217

Drugs & Therapeutics for Digital Clubbing, Isolated Congenital

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Drug clinical trials:

Search ClinicalTrials for Digital Clubbing, Isolated Congenital

Search NIH Clinical Center for Digital Clubbing, Isolated Congenital

Genetic Tests for Digital Clubbing, Isolated Congenital

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Genetic tests related to Digital Clubbing, Isolated Congenital:

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

Anatomical Context for Digital Clubbing, Isolated Congenital

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MalaCards organs/tissues related to Digital Clubbing, Isolated Congenital:

31
Bone, Skin

Animal Models for Digital Clubbing, Isolated Congenital or affiliated genes

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Publications for Digital Clubbing, Isolated Congenital

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Variations for Digital Clubbing, Isolated Congenital

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UniProtKB/Swiss-Prot genetic disease variations for Digital Clubbing, Isolated Congenital:

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

Clinvar genetic disease variations for Digital Clubbing, Isolated Congenital:

6
id Gene Variation 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 Digital Clubbing, Isolated Congenital

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

Pathways for genes affiliated with Digital Clubbing, Isolated Congenital

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Compounds for genes affiliated with Digital Clubbing, Isolated Congenital

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GO Terms for genes affiliated with Digital Clubbing, Isolated Congenital

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Products for genes affiliated with Digital Clubbing, Isolated Congenital

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

Sources for Digital Clubbing, Isolated Congenital

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet