Details of Disease

General Information of Disease (ID: DISZV5Z1)

• Disease Name: Stromme syndrome
• Synonyms: ciliary dyskinesia, primary, 31, formerly; STROMS; ciliary dyskinesia, primary, 31; primary ciliary dyskinesia 31; CILD31; ciliary dyskinesia, primary, type 31; Stromme syndrome; apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome; apple peel syndrome with microcephaly and ocular anomalies; jejunal atresia-microcephaly-ocular anomalies syndrome; lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; jejunal atresia with microcephaly and ocular anomalies; lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
• Definition: An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).
• Disease Hierarchy:
  DISOBC7V: Primary ciliary dyskinesia
  DISOGTFT: Hereditary lethal multiple congenital anomalies/dysmorphic syndrome
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISZV5Z1: Stromme syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009477
  MESH ID: C565460
  UMLS CUI: C1855705
  OMIM ID: 243605
  MedGen ID: 340938
  SNOMED CT ID: 1187120008

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
CENPF	OT7AG0SW	Strong	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.