| H00614 | |
| H number | H00614 |
| 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 |
| Network | - |
| Gene | CMG2 [HSA:118429] [KO:K20909] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 PMID:20301698 AUTHORS Shieh JTC, Hoyme HE, Arbour LT TITLE Hyalinosis, Inherited Systemic JOURNAL GeneReviews (1993) 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 |