Details of Disease

General Information of Disease (ID: DISZA8BN)

• Disease Name: Syndactyly-telecanthus-anogenital and renal malformations syndrome
• Synonyms: syndactyly with renal and anogenital malformations; STAR; toe syndactyly, telecanthus, and anogenital and renal malformations; syndactyly, telecanthus, anogenital and renal malformations; Star syndrome; toe syndactyly, telecanthus, anogenital and renal malformations; syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome, X-linked dominant; STAR syndrome
• Definition: This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISFLSDF: Polydactyly-syndactyly-triphalangism
  DIS3LICD: Congenital limb malformation
  DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
  DISZA8BN: Syndactyly-telecanthus-anogenital and renal malformations syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010408
  MESH ID: C567475
  UMLS CUI: C2678045
  OMIM ID: 300707
  MedGen ID: 394424
  Orphanet ID: 140952
  SNOMED CT ID: 723581006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCNL2	OT0NIKYM	Strong	Genetic Variation	[1]
CDK10	OTKP7TTR	Strong	Biomarker	[1]
COLQ	OT4BHUGQ	Strong	Genetic Variation	[2]
CCNQ	OT183N7L	Definitive	X-linked	[3]

References

• [1] STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis.Cell Cycle. 2016;15(5):678-88. doi: 10.1080/15384101.2016.1147632.
• [2] CMS HCC risk scores and home health patient experience measures.Am J Manag Care. 2018 Oct 1;24(10):e319-e324.
• [3] An autosomal dominant syndrome of renal and anogenital malformations with syndactyly. J Med Genet. 1996 Jul;33(7):594-6. doi: 10.1136/jmg.33.7.594.