Details of Disease

General Information of Disease (ID: DISCCPCL)

Disease Name	Hirsutism
Synonyms	acromegaloid hypertrichosis syndrome; acromegaloid facial appearance syndrome and hypertrichosis; hypertrichosis-coarse face syndrome; haff; hypertrichosis-acromegaloid facial features syndrome
Disease Class	ED72: Hirsutism
Definition	Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type.
Disease Hierarchy	DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISZUK5W: Hypertrichosis DISCCPCL: Hirsutism
ICD Code	ICD-11 ICD-11: ED72 ICD-10 ICD-10: L68.0 ICD-9 ICD-9: 704.1 Expand ICD-11 'ED72.1; 'ED72.0 Expand ICD-10 'L68.0 Expand ICD-9 704.1
Disease Identifiers	MONDO ID MONDO_0019940 MESH ID D006628 UMLS CUI C4303081 MedGen ID 928750 HPO ID HP:0001007 SNOMED CT ID 399939002

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Epristeride	DM35T1O	Phase 3	Small molecular drug	[1]
IZONSTERIDE	DM3KXMG	Phase 1/2	Small molecular drug	[2]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC9	DT3JCE6	Supportive	Autosomal dominant	[3]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCC9	OTGAXLQN	Supportive	Autosomal dominant	[3]
------------------------------------------------------------------------------------

References

1	Epristeride SmithKline Beecham. IDrugs. 1998 May;1(1):152-7.
2	5alpha-reductase activity in the prostate. Urology. 2001 Dec;58(6 Suppl 1):17-24; discussion 24.
3	Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. Am J Med Genet A. 2013 Feb;161A(2):295-300. doi: 10.1002/ajmg.a.35735. Epub 2013 Jan 10.