White Sponge Nevus 1 malady
Categories: Genetic diseases, Rare diseases, Skin diseases, Oral diseases
Aliases & Descriptions for White Sponge Nevus 1:
Orphanet epidemiological data:53
white sponge nevus of cannon:
Inheritance: Autosomal dominant
white sponge nevus 1:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases, Oral diseases
Rare skin diseases
OMIM:51 White sponge nevus is a rare autosomal dominant disorder of noncornifying squamous epithelial differentiation that... (193900) more...
MalaCards based summary: White Sponge Nevus 1, also known as white sponge nevus of cannon, is related to white sponge nevus 2 and waisman syndrome, and has symptoms including abnormality of metabolism/homeostasis, oral leukoplakia and muscle rigidity. An important gene associated with White Sponge Nevus 1 is KRT4 (Keratin 4), and among its related pathways are Cytoskeletal Signaling and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, and related mouse phenotypes are digestive/alimentary and integument.
Disease Ontology:11 A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
UniProtKB/Swiss-Prot:69 White sponge nevus 1: A rare disorder characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved.
Genetics Home Reference:25 White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affected individuals usually develop multiple nevi. Rarely, white sponge nevi also occur on the mucosae (singular: mucosa) of the nose, esophagus, genitals, or anus. The nevi are caused by a noncancerous (benign) overgrowth of cells.
Wikipedia:70 White sponge nevus (WSN, or white sponge naevus, Cannon\'s disease, hereditary leukokeratosis of mucosa,... more...
UMLS symptoms related to White Sponge Nevus 1:muscle rigidity, tremor, bradykinesia
Genetic tests related to White Sponge Nevus 1:
MalaCards organs/tissues related to White Sponge Nevus 1:35
UniProtKB/Swiss-Prot genetic disease variations for White Sponge Nevus 1:69
Clinvar genetic disease variations for White Sponge Nevus 1:5
Search GEO for disease gene expression data for White Sponge Nevus 1.
Pathways related to White Sponge Nevus 1 according to GeneCards Suite gene sharing:
Cellular components related to White Sponge Nevus 1 according to GeneCards Suite gene sharing:
Biological processes related to White Sponge Nevus 1 according to GeneCards Suite gene sharing:(show all 11)
Molecular functions related to White Sponge Nevus 1 according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet