Details of Disease

General Information of Disease (ID: DIS6MBD5)

• Disease Name: Acromegaloid facial appearance syndrome
• Synonyms: AFA syndrome; thick lips and oral mucosa; acromegaloid facial appearance syndrome
• Definition: Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.
• Disease Hierarchy:
  DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
  DIS6MBD5: Acromegaloid facial appearance syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007051
  MESH ID: C535655
  UMLS CUI: C0796280
  OMIM ID: 102150
  MedGen ID: 167116
  Orphanet ID: 965
  SNOMED CT ID: 720456009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCC9	TTEF5MJ	Strong	GermlineCausalMutation	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC9	DT3JCE6	Supportive	Autosomal dominant	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCC9	OTGAXLQN	Supportive	Autosomal dominant	[1]

References

• [1] 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.