Details of Disease | DrugMAP

General Information of Disease (ID: DISDKWMD)

Disease Name	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Synonyms	ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism; facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs; FDLAB; facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome; FDLAB syndrome; Traboulsi syndrome; facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Definition	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.
Disease Hierarchy	DISYKSRF: Genetic disease DISF6ADC: Lens disorder DISDKWMD: Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Disease Identifiers	MONDO ID MONDO_0011106 MESH ID C563293 UMLS CUI C1832167 OMIM ID 601552 MedGen ID 330396 Orphanet ID 412022 SNOMED CT ID 770728003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ASPH	TT2KHP7	moderate	Genetic Variation	[1]
ASPH	TT2KHP7	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ASPH	OT3KGDEE	Strong	Autosomal recessive	[2]
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References

1	A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.Am J Med Genet A. 2018 Nov;176(11):2494-2500. doi: 10.1002/ajmg.a.40508. Epub 2018 Sep 8.
2	Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome. Am J Hum Genet. 2014 May 1;94(5):755-9. doi: 10.1016/j.ajhg.2014.04.002. Epub 2014 Apr 24.