KEGG   DISEASE: Macrocephaly, alopecia, cutis laxa, and scoliosis
Entry
H00906                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD28  Syndromes with connective tissue involvement as a major feature
    H00906  Macrocephaly, alopecia, cutis laxa, and scoliosis
Gene
RIN2 [HSA:54453] [KO:K23687]
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
Reference
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

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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