Details of Disease

General Information of Disease (ID: DIS6K4SH)

• Disease Name: RIN2 syndrome
• Synonyms: tall forehead, sparse hair, skin hyperextensibility, and scoliosis; macrocephaly, alopecia, cutis laxa, and scoliosis; RIN2 deficiency; MACS syndrome; tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 syndrome
• Definition: RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.
• Disease Hierarchy:
  DIS0OJ0Q: Inherited cutis laxa
  DIS6K4SH: RIN2 syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0013115
  MESH ID: C567770
  UMLS CUI: C2751321
  OMIM ID: 613075
  MedGen ID: 416526
  Orphanet ID: 217335
  SNOMED CT ID: 723367005

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
RIN2	OTCY73U9	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.