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MCID: LPD016
MIFTS: 55
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Lipoid Proteinosis of Urbach and Wiethe
Categories:
Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Metabolic diseases
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MalaCards integrated aliases for Lipoid Proteinosis of Urbach and Wiethe:
Characteristics:Orphanet epidemiological data:59
lipoid proteinosis
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in childhood neuropsychiatric manifestations are variable HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Skin diseases
ICD10:
34
External Ids:
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NINDS
:
54
Lipoid proteinosis (LP) is a rare disease that affects the skin and the brain. Three distinctive features characterize the disease: a hoarse voice, unusual growths on the skin and mucus membranes, and damage to the temporal lobes or hippocampus of the brain. The symptoms of LP may begin as early as infancy with hoarseness or a weak cry, due to growths on the vocal cords. Skin lesions appear sometime in the next 3 years, leaving acne- or pox-like scars on the face, hands, and mucous membranes. The most characteristic symptom of LP is waxy, yellow, bead-like bumps along the upper and lower edges of the eyelids. Brain damage develops over time and is associated with the development of cognitive abilities and epileptic seizures. Damage to the amygdala, a part of the brain that regulates emotions and perceptions, leads to difficulties in discriminating facial expressions and in making realistic judgments about the trustworthiness of other people. LP is a hereditary disease that equally affects males and females. Nearly a quarter of all reported cases have been in the Afrikaner population of South Africa, but the disease is increasingly being reported from other parts of the world including India. The gene responsible for LP has recently been identified. It performs an unknown function in the skin related to the production of collagen.
MalaCards based summary : Lipoid Proteinosis of Urbach and Wiethe, also known as lipoid proteinosis, is related to cleft lip/palate and cleft lip, and has symptoms including hoarseness, seizures and thickened tongue. An important gene associated with Lipoid Proteinosis of Urbach and Wiethe is ECM1 (Extracellular Matrix Protein 1), and among its related pathways/superpathways are Phospholipase-C Pathway and MET promotes cell motility. The drugs Menthol and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include skin, temporal lobe and brain, and related phenotypes are high palate and seizures OMIM : 57 Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by Hamada et al., 2002 and Hamada et al., 2003). (247100) UniProtKB/Swiss-Prot : 75 Lipoid proteinosis: Rare autosomal recessive disorder characterized by generalized thickening of skin, mucosae and certain viscera. Classical features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. Histologically, there is widespread deposition of hyaline material and disruption/reduplication of basement membrane. NIH Rare Diseases : 53 Lipoid proteinosis (LP) of Urbach and Wiethe is a rare condition that affects the skin and the brain. The signs and symptoms of this condition and the disease severity vary from person to person. The first sign of LP is usually a hoarse cry during infancy. Affected children then develop characteristic growths on the skin and mucus membranes in the first two years of life. Damage to the temporal lobes (the portions of the brain that process emotions and are important for short-term memory) occurs over time and can lead to seizures and intellectual disability. Other signs and symptoms may include hair loss, oligodontia, speech problems, frequent upper respiratory infections, difficulty swallowing, dystonia, and learning disabilities. LP is caused by changes (mutations) in the ECM1 gene and is inherited in an autosomal recessive manner. There is currently no cure for LP and treatment is based on the signs and symptoms present in each person. Genetics Home Reference : 25 Lipoid proteinosis is a condition that results from the formation of numerous small clumps (deposits) of proteins and other molecules in various tissues throughout the body. These tiny clumps appear in the skin, upper respiratory tract, the moist tissues that line body openings such as the eyelids and the inside of the mouth (mucous membranes), and other areas. Wikipedia : 76 Urbach–Wiethe disease (also known as lipoid proteinosis and hyalinosis cutis et mucosae) is a rare... more...
GeneReviews:
NBK338540
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:247100Human phenotypes related to Lipoid Proteinosis of Urbach and Wiethe:59 32 (show all 31)
UMLS symptoms related to Lipoid Proteinosis of Urbach and Wiethe:hoarseness, seizures, thickened tongue GenomeRNAi Phenotypes related to Lipoid Proteinosis of Urbach and Wiethe according to GeneCards Suite gene sharing:26
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Drugs for Lipoid Proteinosis of Urbach and Wiethe (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 19)
Interventional clinical trials:
Cochrane evidence based reviews: lipoid proteinosis of urbach and wiethe |
MalaCards organs/tissues related to Lipoid Proteinosis of Urbach and Wiethe:41
Skin,
Temporal Lobe,
Brain,
Amygdala,
Tongue,
Liver,
Lymph Node
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Articles related to Lipoid Proteinosis of Urbach and Wiethe:(show top 50) (show all 253)
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Genes related to Lipoid Proteinosis of Urbach and Wiethe (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Lipoid Proteinosis of Urbach and Wiethe:75
ClinVar genetic disease variations for Lipoid Proteinosis of Urbach and Wiethe:6
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Search
GEO
for disease gene expression data for Lipoid Proteinosis of Urbach and Wiethe.
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Biological processes related to Lipoid Proteinosis of Urbach and Wiethe according to GeneCards Suite gene sharing:
Molecular functions related to Lipoid Proteinosis of Urbach and Wiethe according to GeneCards Suite gene sharing:
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