Details of Disease

General Information of Disease (ID: DISG0L91)

• Disease Name: Cardiospondylocarpofacial syndrome
• Synonyms: CSCF; mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones; Forney Robinson Pascoe syndrome; congenital heart disease, deafness, and skeletal malformations; mitral regurgitation-deafness-skeletal anomalies syndrome; cardiospondylocarpofacial syndrome; Forney-Robinson-Pascoe syndrome; Forney syndrome
• Definition: Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.
• Disease Hierarchy:
  DISP0R2U: Filamin-related bone disorder
  DISG0L91: Cardiospondylocarpofacial syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008005
  MESH ID: C537269
  UMLS CUI: C2931461
  OMIM ID: 157800
  MedGen ID: 444060
  Orphanet ID: 3238
  SNOMED CT ID: 720612000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MAP3K7	TTJQT60	moderate	Genetic Variation	[1]
MAP3K7	TTJQT60	Strong	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAP3K7	OTUXEASC	Strong	Autosomal dominant	[2]

References

• [1] A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.Eur J Hum Genet. 2018 Apr;26(4):582-586. doi: 10.1038/s41431-017-0079-x. Epub 2018 Feb 21.
• [2] Heterozygous Mutations in MAP3K7, Encoding TGF--Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome. Am J Hum Genet. 2016 Aug 4;99(2):407-13. doi: 10.1016/j.ajhg.2016.06.005. Epub 2016 Jul 14.