Lipoid Proteinosis of Urbach and Wiethe [Urbachova-Wietheova nemoc]
topical
5
- Terms
-
hyalinosis cutis et mucosae
lipoidproteinóza
lipoproteinóza
Urbachův-Wietheho syndrom
-
Hyalinosis Cutis et Mucosae
Lipoidproteinosis
Lipoproteinosis
Urbach-Wiethe Disease
Urbach-Wiethe Lipoid Proteinosis
Urbach-Wiethe Syndrome
Persistent link
https://www.medvik.cz/link/D008065
Definition
An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.
- DUI
- D008065 MeSH Browser
- CUI
- M0012568
- History note
- 2007 (1975)
- Public note
- 2007; see LIPOIDPROTEINOSIS 1991-2006, see LIPOIDOSIS 1975-1990
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- DI
- diagnosis 2
- DG
- diagnostic imaging
- 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 1
- PP
- physiopathology
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 2
- UR
- urine
- VE
- veterinary
- VI
- virology
...
Occurrences in Medvik records