| H00906 | |
| H number | H00906 |
| Name | Macrocephaly, alopecia, cutis laxa, and scoliosis; MACS syndrome |
| Description | Macrocephaly, alopecia, cutis laxa, and scoliosis is an autosomal-recessive disorder related to the cutis laxa group of inherited disorders associated with macrocephaly, sparse hair, redundant skin, hyperlaxity of joints, gingival hypertrophy, retrognathia with abnormal skull morphology, and severe scoliosis. Homozygous mutations in RIN2, a protein that is involved in the regulation of endocytosis, have been reported. |
| Category | Congenital malformation |
| Network | - |
| Gene | RIN2 [HSA:54453] [KO:K23687] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD28.2 MeSH: C567770 OMIM: 613075 |
| Reference | PMID:19631308 AUTHORS Basel-Vanagaite L, Sarig O, Hershkovitz D, Fuchs-Telem D, Rapaport D, Gat A, Isman G, Shirazi I, Shohat M, Enk CD, Birk E, Kohlhase J, Matysiak-Scholze U, Maya I, Knopf C, Peffekoven A, Hennies HC, Bergman R, Horowitz M, Ishida-Yamamoto A, Sprecher E TITLE RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. JOURNAL Am J Hum Genet 85:254-63 (2009) DOI:10.1016/j.ajhg.2009.07.001 PMID:20424861 AUTHORS Syx D, Malfait F, Van Laer L, Hellemans J, Hermanns-Le T, Willaert A, Benmansour A, De Paepe A, Verloes A TITLE The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). JOURNAL Hum Genet 128:79-88 (2010) DOI:10.1007/s00439-010-0829-0 |