|
MCID: ANT042
MIFTS: 32
|
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis
Categories:
Genetic diseases
|
|
|
|
Aliases & Classifications for Antley-Bixler Syndrome with Genital Anomalies and Disordered...
MalaCards integrated aliases for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:
Characteristics:OMIM:53
Inheritance:
autosomal recessive
Miscellaneous:
see also antley-bixler syndrome (abs) with normal steroidogenesis majority of por deficiency patients have an abs-like phenotype some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis HPO:31
antley-bixler syndrome with genital anomalies and disordered steroidogenesis:
Inheritance autosomal recessive inheritance Classifications: |
|
OMIM
:
53
The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system), and impaired steroidogenesis (present only in patients with POR mutations). Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010). (201750)
MalaCards based summary : Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis, also known as abs1, is related to cytochrome p450 oxidoreductase deficiency and disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency, and has symptoms including malar flattening, hypertelorism and frontal bossing. An important gene associated with Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis is POR (Cytochrome P450 Oxidoreductase). Affiliated tissues include ovary, kidney and placenta. UniProtKB/Swiss-Prot : 71 Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis: A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. |
Diseases related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:
|
Symptoms via clinical synopsis from OMIM:53Clinical features from OMIM:201750Human phenotypes related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:31 (show all 49)
|
|
|
MalaCards organs/tissues related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:38
Ovary,
Kidney,
Placenta
|
Articles related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:(show all 12)
|
Genes related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
|
UniProtKB/Swiss-Prot genetic disease variations for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:71
ClinVar genetic disease variations for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:6
|
|
Search
GEO
for disease gene expression data for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis.
|
|
|
|