Lipoid Proteinosis of Urbach and Wiethe (LIP)

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Disease Ontology 12 DOID:14498 OMIM 58 247100 KEGG 38 H00883 MeSH 45 D008065 NCIt 51 C84829 SNOMED-CT 69 38692000

ICD10 via Orphanet 35 E78.8 UMLS via Orphanet 75 C0023795 Orphanet 60 ORPHA530 MedGen 43 C0023795 SNOMED-CT via HPO 70 103605005 11381005 128613002 17417006 17944005 191667009 246545002 248004009 249380003 25694009 258211005 26996000 271760008 27272007 278040002 285305004 288939007 298000004 30285000 313307000 32614006 386807006 396228006 399955009 40739000 443871003 47002008 48677004 50219008 52756005 55533009 56317004 57019003 61372001 69943009 7011001 84757009 91175000 95325000 more UMLS 74 C0023795

NINDS : ⁵⁵ 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 gingival hypertrophy and superficial mycosis, and has symptoms including seizures, hoarseness 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 Integrin Pathway and Phospholipase-C Pathway. The drugs Angiotensin II and Telmisartan have been mentioned in the context of this disorder. Affiliated tissues include skin, temporal lobe and brain, and related phenotypes are subcutaneous nodule and abnormal blistering of the skin

Genetics Home Reference : ²⁶ 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.

NIH Rare Diseases : ⁵⁴ 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.

OMIM : ⁵⁸ 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 : ⁷⁶ 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.

Wikipedia : ⁷⁷ Urbach–Wiethe disease is a rare recessive genetic disorder, with approximately 400 reported cases since... more...

GeneReviews: NBK338540

Clinical features from OMIM:

247100

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	9.92	ANTXR2 COL1A2 DST ECM1 EFEMP1 EMC1

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