| Descriptor English: | Lipoid Proteinosis of Urbach and Wiethe | ||||||
| Descriptor Spanish: |
Proteinosis Lipoidea de Urbach y Wiethe
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| Descriptor Portuguese: | Proteinose Lipoide de Urbach e Wiethe | ||||||
| Descriptor French: | Protéinose lipoïde | ||||||
| Entry term(s): |
Hyalinosis Cutis et Mucosae Lipoid Proteinosis, Urbach-Wiethe Lipoidproteinosis Lipoproteinosis Urbach Wiethe Disease Urbach Wiethe Lipoid Proteinosis Urbach-Wiethe Disease Urbach-Wiethe Lipoid Proteinosis Urbach-Wiethe Syndrome |
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| Tree number(s): |
C08.618.490.500 C16.320.850.595 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D008065 | ||||||
| Scope note: | 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 2007; see LIPOIDPROTEINOSIS 1991-2006, see LIPOIDOSIS 1975-1990 |
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| History Note: | 2007 (1975) |
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| Entry Version: | LIPOID PROTEINOSIS URBACH AND WIETHE |
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| Related: |
Hyaline Fibromatosis Syndrome
MeSH | ||||||
| DeCS ID: | 8240 | ||||||
| Unique ID: | D008065 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1991/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2013/07/09 |
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Lipoid Proteinosis of Urbach and Wiethe
- Preferred
| Concept UI |
M0012568 |
| Scope note | 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. |
| Preferred term | Lipoid Proteinosis of Urbach and Wiethe |
| Entry term(s) |
Hyalinosis Cutis et Mucosae Lipoid Proteinosis, Urbach-Wiethe Lipoidproteinosis Lipoproteinosis Urbach Wiethe Disease Urbach Wiethe Lipoid Proteinosis Urbach-Wiethe Disease Urbach-Wiethe Lipoid Proteinosis Urbach-Wiethe Syndrome |
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