Details of Disease | DrugMAP

General Information of Disease (ID: DISQI2AI)

Disease Name	Autosomal dominant palmoplantar keratoderma and congenital alopecia
Synonyms	keratoderma-hypotrichosis-leukonychia totalis syndrome; PPKCA1; alopecia congenita with hyperkeratosis of the palms and soles; palmoplantar keratoderma and congenital alopecia 1; Ppkca, Stevanovic type; palmoplantar keratoderma with congenital alopecia; palmoplantar keratoderma and congenital alopecia type 1; palmoplantar keratoderma and congenital alopecia, Stevanovic type; PPK-CA, Stevanovic type; autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
Definition	Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
Disease Hierarchy	DIS6O9JS: Diffuse palmoplantar keratoderma DISLRS4M: Ectodermal dysplasia DISQI2AI: Autosomal dominant palmoplantar keratoderma and congenital alopecia
Disease Identifiers	MONDO ID MONDO_0007083 UMLS CUI C4304669 OMIM ID 104100 MedGen ID 930338 Orphanet ID 1010 SNOMED CT ID 719518004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJA1	TT4F7SL	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GJA1	OTT94MKL	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.