Digital Clubbing, Isolated Congenital malady
Categories: Genetic diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases
Aliases & Descriptions for Digital Clubbing, Isolated Congenital:
Orphanet epidemiological data:53
isolated congenital digital clubbing:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal
digital clubbing, isolated congenital:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Bone diseases, Skin diseases
UniProtKB/Swiss-Prot:69 Isolated congenital nail clubbing: A rare genodermatosis characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx. It is usually symmetrical and bilateral (in some cases unilateral). In nail clubbing usually the distal end of the nail matrix is relatively high compared to the proximal end, while the nail plate is complete but its dimensions and diameter more or less vary in comparison to normal. There may be different fingers and toes involved to varying degrees. Some fingers or toes are spared, but the thumbs are almost always involved.
MalaCards based summary: Digital Clubbing, Isolated Congenital, is also known as isolated congenital digital clubbing, and has symptoms including clubbing An important gene associated with Digital Clubbing, Isolated Congenital is HPGD (Hydroxyprostaglandin Dehydrogenase 15-(NAD)). Affiliated tissues include skin and bone.
OMIM:51 Digital clubbing is characterized by enlargement of the nail plate and terminal segments of the fingers and toes,... (119900) more...
Drugs for Digital Clubbing, Isolated Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 22)
Interventional clinical trials:
Search NIH Clinical Center for Digital Clubbing, Isolated Congenital
MalaCards organs/tissues related to Digital Clubbing, Isolated Congenital:35
UniProtKB/Swiss-Prot genetic disease variations for Digital Clubbing, Isolated Congenital:69
Clinvar genetic disease variations for Digital Clubbing, Isolated Congenital:5
Search GEO for disease gene expression data for Digital Clubbing, Isolated Congenital.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet