Details of Disease

General Information of Disease (ID: DISJQLRA)

• Disease Name: Autosomal dominant popliteal pterygium syndrome
• Synonyms: cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies; faciogenitopopliteal syndrome; popliteal pterygium syndrome; PPS; cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies; facio-genito-popliteal syndrome; popliteal pterygium syndrome 1; popliteal web syndrome; popliteal pterygium syndrome, autosomal dominant
• Definition: Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163).
• Disease Hierarchy:
  DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
  DISRS4H8: Popliteal pterygium syndrome
  DIS3HIWD: Autosomal dominant disease
  DISJQLRA: Autosomal dominant popliteal pterygium syndrome

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IRF6	OTKJ44EV	Definitive	Autosomal dominant	[1]

References

• [1] Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002 Oct;32(2):285-9. doi: 10.1038/ng985. Epub 2002 Sep 3.