KEGG   DISEASE: Hyaline fibromatosis syndrome
Entry
H00614                      Disease                                
Name
Hyaline fibromatosis syndrome
Description
Hyaline fibromatosis syndrome are autosomal recessive disease. Abnormal accumulation of an unidentified hyaline material in body tissues can lead to joint contractures, osteopenia, thickened skin with hyperpigmentation, gingival hypertrophy, and diarrhea.
Category
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 15 Diseases of the musculoskeletal system or connective tissue
  Osteopathies or chondropathies
   FB86  Disorders associated with bone growth
    H00614  Hyaline fibromatosis syndrome
Gene
CMG2 [HSA:118429] [KO:K20909]
Other DBs
ICD-11: FB86.2
ICD-10: M72.9
MeSH: D057770
OMIM: 228600
Reference
PMID:18222328
  Authors
Lindvall LE, Kormeili T, Chen E, Ramirez MC, Grum-Tokars V, Glucksman MJ, Martignetti JA, Zaragoza MV, Dyson SW
  Title
Infantile systemic hyalinosis: Case report and review of the literature.
  Journal
J Am Acad Dermatol 58:303-7 (2008)
DOI:10.1016/j.jaad.2007.06.008
Reference
PMID:20301698
  Authors
Shieh JTC, Hoyme HE, Arbour LT
  Title
Hyalinosis, Inherited Systemic
  Journal
GeneReviews (1993)
Reference
PMID:21208784
  Authors
Tzellos TG, Batzios SP, Dionyssopoulos A, Karakiulakis G, Papakonstantinou E
  Title
Differential expression of matrix metalloproteinases and proteoglycans in Juvenile Hyaline Fibromatosis.
  Journal
J Dermatol Sci 61:94-100 (2011)
DOI:10.1016/j.jdermsci.2010.12.002
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