Details of Disease | DrugMAP

General Information of Disease (ID: DIS83WTF)

Disease Name	Pure hair and nail ectodermal dysplasia
Synonyms	hair-nail ectodermal dysplasia; HNED; PHNED
Definition	Pure hair and nail ectodermal dysplasia is characterized by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.
Disease Hierarchy	DISLRS4M: Ectodermal dysplasia DIS83WTF: Pure hair and nail ectodermal dysplasia
Disease Identifiers	MONDO ID MONDO_0019071 MESH ID C566592 UMLS CUI C1865951 OMIM ID 602032 MedGen ID 400883 Orphanet ID 69084

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HOXC13	OT52AVNA	Supportive	Autosomal dominant	[1]
KRT74	OT9MEIJ1	Supportive	Autosomal dominant	[2]
KRT85	OT67IP7F	Supportive	Autosomal dominant	[3]
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References

1	Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. Am J Hum Genet. 2012 Nov 2;91(5):906-11. doi: 10.1016/j.ajhg.2012.08.029. Epub 2012 Oct 11.
2	Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. PLoS One. 2014 Apr 8;9(4):e93607. doi: 10.1371/journal.pone.0093607. eCollection 2014.
3	A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. J Med Genet. 2006 Mar;43(3):274-9. doi: 10.1136/jmg.2005.033381.