You are using an outdated browser. Please upgrade your browser to improve your experience.
RIN2 syndrome
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description 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.
Uniprot Description A complex disorder of elastic tissue characterized by sagging skin and occasionally by life-threatening visceral complications.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C567770
OMIM:613075
Orphanet:217335
SCTID:723367005
UMLS:C2751321
MONDO:0013115
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.