Search on: HYALINOSIS, SYSTEMIC 
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Descriptor English:   Hyalinosis, Systemic 
Descriptor Spanish:   Hialinosis Sistémica 
Descriptor Portuguese:   Hialinose Sistêmica 
Tree Number:   C16.320.850.368
C17.800.827.384
Definition English:   Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. Mutations in the capillary morphogenesis protein-2 are associated with the disorder. 
Indexing Annotation English:   do not confuse entry term INFANTILE SYSTEMIC HYALINOSIS with HYALINE MEMBRANE DISEASE
See Related English:   Hyaline Membrane Disease
Lipoid Proteinosis of Urbach and Wiethe
 
History Note English:   2011 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   53998 
Unique Identifier:   D057770 

Occurrence in VHL:
 

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