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BZX
MCID: BZX001
MIFTS: 45
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Bazex Syndrome (BZX)
Categories:
Cancer diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Bazex Syndrome:
Characteristics:Orphanet epidemiological data:60
bazex syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; OMIM:58
Miscellaneous:
onset in infancy or early childhood basal cell neoplasms develop after second decade
Inheritance:
x-linked dominant HPO:33Classifications:
ICD10:
35
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NIH Rare Diseases
:
54
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 palmoplantar keratoderma and parakeratosis OMIM : 58 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 : 77 Bazex–Dupré–Christol syndrome (also known as "Bazex syndrome", and "follicular atrophoderma and basal... more... |
Human phenotypes related to Bazex Syndrome:60 33 (show all 43)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:301845GenomeRNAi Phenotypes related to Bazex Syndrome according to GeneCards Suite gene sharing:27
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MalaCards organs/tissues related to Bazex Syndrome:42
Skin,
Lung,
Breast,
Colon,
Prostate,
T Cells
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Articles related to Bazex Syndrome:(show top 50) (show all 63)
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Genes related to Bazex Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Cosmic variations for Bazex Syndrome:9 (show all 16)
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Search
GEO
for disease gene expression data for Bazex Syndrome.
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Biological processes related to Bazex Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Bazex Syndrome according to GeneCards Suite gene sharing:
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