Details of Disease | DrugMAP

General Information of Disease (ID: DISZDZ2V)

Disease Name	Isolated congenital digital clubbing
Synonyms	acropachy, hereditary; clubbing of digits; digital clubbing, isolated congenital; isolated congenital acropachy; isolated congenital nail clubbing
Definition	Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DISNN50H: Inherited isolated nail anomaly DISZDZ2V: Isolated congenital digital clubbing
Disease Identifiers	MONDO ID MONDO_0007343 MESH ID D010004 UMLS CUI C0345408 OMIM ID 119900 MedGen ID 576901 Orphanet ID 217059 SNOMED CT ID 239055005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HPGD	DEHKSC6	Supportive	Autosomal dominant	[1]
HPGD	DEHKSC6	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HPGD	OTYZI6JB	Supportive	Autosomal dominant	[1]
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References

1	Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC). J Med Genet. 2009 Jan;46(1):14-20. doi: 10.1136/jmg.2008.061234. Epub 2008 Sep 19.
2	Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. Chem Biol Interact. 2015 Jun 5;234:114-25.