Lipoid Proteinosis of Urbach and Wiethe [Urbachova-Wietheova nemoc] topical
- 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
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.
Allowable subheadings
- BL
- blood 0
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 0
- CO
- complications 0
- DI
- diagnosis 2
- DG
- diagnostic imaging 0
- DH
- diet therapy 0
- DT
- drug therapy 0
- EC
- economics 0
- EM
- embryology 0
- EN
- enzymology 0
- EP
- epidemiology 0
- EH
- ethnology 0
- ET
- etiology 0
- GE
- genetics 0
- HI
- history 0
- IM
- immunology 0
- ME
- metabolism 0
- MI
- microbiology 0
- MO
- mortality 0
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 1
- PP
- physiopathology 0
- PC
- prevention & control 0
- PX
- psychology 0
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 0
- TH
- therapy 2
- UR
- urine 0
- VE
- veterinary 0
- VI
- virology 0
C08.618 Respiration Disorders
C08.618.490 Hoarseness
C08.618.490.500 Lipoid Proteinosis of Urbach and Wiethe
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C16.320 Genetic Diseases, Inborn
C16.320.850 Skin Diseases, Genetic
C16.320.850.080 Albinism
C16.320.850.180 Cutis Laxa
C16.320.850.190 Darier Disease
C16.320.850.210 Dermatitis, Atopic
C16.320.850.235 Dyskeratosis Congenita
C16.320.850.250 Ectodermal Dysplasia
C16.320.850.260 Ehlers-Danlos Syndrome
C16.320.850.275 Epidermolysis Bullosa
C16.320.850.337 Erythrokeratodermia Variabilis
C16.320.850.368 Hyaline Fibromatosis Syndrome
C16.320.850.400 Ichthyosiform Erythroderma, Congenital
C16.320.850.402 Ichthyosis Bullosa of Siemens
C16.320.850.405 Ichthyosis Vulgaris
C16.320.850.408 Ichthyosis, X-Linked
C16.320.850.420 Incontinentia Pigmenti
C16.320.850.475 Keratoderma, Palmoplantar
C16.320.850.542 Leukokeratosis, Hereditary Mucosal
C16.320.850.595 Lipoid Proteinosis of Urbach and Wiethe
C16.320.850.647 Monilethrix
C16.320.850.673 Netherton Syndrome
C16.320.850.700 Pemphigus, Benign Familial
C16.320.850.730 Porokeratosis
C16.320.850.738 Porphyria, Erythropoietic
C16.320.850.742 Porphyrias, Hepatic
C16.320.850.746 Prolidase Deficiency
C16.320.850.750 Pseudoxanthoma Elasticum
C16.320.850.765 Rothmund-Thomson Syndrome
C16.320.850.820 Sjogren-Larsson Syndrome
C16.320.850.895 Trichothiodystrophy Syndromes
C16.320.850.970 Xeroderma Pigmentosum