MCID: DGT002
MIFTS: 17

Digital Clubbing, Isolated Congenital malady

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

Aliases & Classifications for Digital Clubbing, Isolated Congenital

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Sources:
46OMIM, 9diseasecard, 20GeneTests, 61UMLS, 48Orphanet, 22GTR, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Digital Clubbing, Isolated Congenital:

Name: Digital Clubbing, Isolated Congenital 46 9 20 61
Isolated Congenital Digital Clubbing 48 22
 
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: Infancy,Neonatal


External Ids:

OMIM46 119900
Orphanet48 217059
ICD10 via Orphanet26 Q68.1

Summaries for Digital Clubbing, Isolated Congenital

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OMIM:46 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.

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:

63
id Symbol AA change Variation ID SNP ID
1HPGDp.Ser193ProVAR_060792

Clinvar genetic disease variations for Digital Clubbing, Isolated Congenital:

5
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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Sources for Digital Clubbing, Isolated Congenital

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet