Details of Disease

General Information of Disease (ID: DIS1P3YX)

• Disease Name: Ablepharon macrostomia syndrome
• Synonyms: congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies; AMS; ablepharon-macrostomia syndrome; Ablepharon-Macrostomia Syndrome
• Definition: Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.
• Disease Hierarchy:
  DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
  DIS6SVEE: Syndromic disease
  DISYKSRF: Genetic disease
  DIS1P3YX: Ablepharon macrostomia syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008693
  UMLS CUI: C1860224
  OMIM ID: 200110
  MedGen ID: 395439
  Orphanet ID: 920
  SNOMED CT ID: 718575002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TWIST2	OTYH4BDG	Definitive	Autosomal dominant	[1]
GTF2H5	OTRL219S	Strong	Biomarker	[5]
NAA10	OTYB9R6I	Strong	Biomarker	[3]
PPP1R8	OTH5KB2P	Strong	Biomarker	[3]
TRIM23	OTVIGJ4T	Strong	Biomarker	[3]

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BDKRB1	TTG5QIA	Strong	Genetic Variation	[2]
EGLN1	TT9ISBX	Strong	Biomarker	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HIF1AN	DEY1CBW	Strong	Biomarker	[4]

References

• [1] Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25.
• [2] No association between alleles of the bradykinin receptor-B2 gene and acute mountain sickness.Exp Biol Med (Maywood). 2010 Jun;235(6):737-40. doi: 10.1258/ebm.2010.009325.
• [3] Understanding molecular mechanisms of Rhodiola rosea for the treatment of acute mountain sickness through computational approaches (a STROBE-compliant article).Medicine (Baltimore). 2018 Sep;97(39):e11886. doi: 10.1097/MD.0000000000011886.
• [4] Variants of the low oxygen sensors EGLN1 and HIF-1AN associated with acute mountain sickness.Int J Mol Sci. 2014 Nov 26;15(12):21777-87. doi: 10.3390/ijms151221777.
• [5] Systematically investigating the pharmacological mechanism of Dazhu Hongjingtian in the prevention and treatment of acute mountain sickness by integrating UPLC/Q-TOF-MS/MS analysis and network pharmacology.J Pharm Biomed Anal. 2020 Feb 5;179:113028. doi: 10.1016/j.jpba.2019.113028. Epub 2019 Dec 3.