Bazex Syndrome (BZX)

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OMIM 57 301845 Orphanet 59 ORPHA166113 ORPHA79459 UMLS via Orphanet 74 C0346104 C0406355 ICD10 via Orphanet 34 L98.8

MedGen 42 C0346104 SNOMED-CT via HPO 69 128334002 275480001 69056000 95433000 4830009 49765009 402599005 72129000 281104002 43116000 45004005 20741006 267038008 423666004 79654002 706885006 279333002 418290006 418363000 424492005 53602002 56558005 200766001 65068000 200775004 24079001 254679001 254683001 37719003 298181000 95325000 165397008 271737000 48610005 1338007 254701007 275265005 21119008 400096001 51697005 17170005 87065009 22486004 238736006 45342007 254829001 49430005 254626006 59393003 14411002 271767006 416189003 80400009 more UMLS 73 C0346104

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 113Disease definitionBazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.EpidemiologySo far, 143 cases have been reported, mostly from France and Belgium.Clinical descriptionThe disease manifests during the neonatal period or during infancy. It is characterized by hypotrichosis, hypohidrosis, milia and basal cell carcinomas of early onset. Follicular atrophoderma is frequent and most common on the dorsum of the hands and feet, the extensor surfaces of the elbows and knees, and the face. Hypotrichosis affects the scalp and sometimes the eyebrows. The milia papules and basal cell carcinomas are located predominantly on the face. Basal cell carcinomas develop in 40% of patients, usually during the 2nd or 3rd decade of life. Additional common features include basal cell hamartomas, trichoepitheliomas and, in very rare cases, atopy, keratosis pilaris, ichthyosis, arachnodactyly with joint hyperlaxity, osteochondritis, deafness and learning difficulties.EtiologyThe gene has been mapped to the long arm of the X chromosome, within the Xq24-q27.1 region. UBE2A (Xq24), encoding a protein involved in repair of UV-damaged DNA, has been proposed as a candidate gene.Differential diagnosisThe differential diagnosis should include Gorlin syndrome, which also leads to multiple basal cell carcinomas of early onset, and X-linked dominant chondrodysplasia punctata (see these terms) in which follicular atrophoderma may also be observed. Rombo syndrome and generalized basaloid follicular hamartoma syndrome (see these terms) should also be included in the differential diagnosis.Genetic counselingTransmission is X-linked dominant.Management and treatmentManagement involves photoprotection and early detection of basal cell carcinomas. Surgical intervention, and sometimes cryosurgery or topical imiquimod, are indicated for basal cell carcinomas. Radiotherapy is contraindicated.Visit the Orphanet disease page for more resources.

MalaCards based summary : Bazex Syndrome, also known as follicular atrophoderma and basal cell carcinomas, is related to brachydactyly, type c and collecting duct carcinoma. An important gene associated with Bazex Syndrome is BZX (Bazex Syndrome), and among its related pathways/superpathways are G-protein signaling_RhoA regulation pathway and Lung fibrosis. Affiliated tissues include skin, lung and breast, and related phenotypes are anemia and palmoplantar keratoderma

OMIM : ⁵⁷ Bazex syndrome is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005). Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance. (301845)

Wikipedia : ⁷⁶ Bazex�??Dupré�??Christol syndrome (also known as "Bazex syndrome", and "follicular atrophoderma and... more...

Clinical features from OMIM:

301845

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization	GR00242-A-1	9.56	ACTRT1 FGF7
2	Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization	GR00242-A-2	9.56	ACTRT1 FGF7
3	Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation	GR00242-A-4	9.16	ACTRT1 FGF7
4	Decreased viability after sindbis virus (SIN) dsTE12Q infection	GR00242-A-3	8.62	ACTRT1 FGF7

Search Clinical Trials , NIH Clinical Center for Bazex Syndrome

Search GEO for disease gene expression data for Bazex Syndrome.