MCID: ISL012
MIFTS: 19

Isolated Congenital Digital Clubbing malady

Genetic diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases categories
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Summaries for Isolated Congenital Digital Clubbing

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MalaCards based summary: Isolated Congenital Digital Clubbing, is also known as digital clubbing, isolated congenital and has symptoms including 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, 62UMLS, 26ICD10 via Orphanet
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Isolated Congenital Digital Clubbing, Aliases & Descriptions:

Name: Isolated Congenital Digital Clubbing 20 22 48
Digital Clubbing, Isolated Congenital 46 62
Osteoarthropathy, Secondary Hypertrophic 62
 
Isolated Congenital Nail Clubbing 48
Isolated Congenital Acropachy 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 119900
ICD10 via Orphanet26 Q68.1

Related Diseases for Isolated Congenital Digital Clubbing

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Symptoms for Isolated Congenital Digital Clubbing

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Symptoms by clinical synopsis from OMIM:

119900

Clinical features from OMIM:

119900

HPO human phenotypes related to Isolated Congenital Digital Clubbing:

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

Drugs & Therapeutics for Isolated Congenital Digital Clubbing

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Drug clinical trials:

Search ClinicalTrials for Isolated Congenital Digital Clubbing

Search NIH Clinical Center for Isolated Congenital Digital Clubbing

Genetic Tests for Isolated Congenital Digital Clubbing

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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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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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Variations for Isolated Congenital Digital Clubbing

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

64
id Symbol AA change Variation ID SNP ID
1HPGDp.Ser193ProVAR_060792

Clinvar genetic disease variations for Isolated Congenital Digital Clubbing:

6
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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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

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