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Alagille Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Cases relating to ALGS (also known as arteriohepatic dysplasia, syndromic bile duct paucity, syndromic hepatic ductular hypoplasia, syndromic intrahepatic biliary hypoplasia, cholestasis with peripheral pulmonary stenosis, intrahepatic biliary atresia/dysgenesis, Alagille–Watson syndrome, or Watson–Miller syndrome) were initially reported by Alagille et al. in 1969 and then by Watson and Miller in 1973, with classic criteria for diagnosing this disorder established by Alagille et al. in 1975 (see Section 13.6) [1].
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Differential diagnosis:Treacher Collins syndrome: mandibulofacial dysostosis (MFD), coloboma of the lower eyelid with deficient eyelashes, normal limbs, very rare extracranial malformations caused by dominant mutations in TCOF1. Miller syndrome: MFD associated with postaxial limb defects. Mutations in the gene DHODH have been identified: autosomal recessive. Acrofacial dysostosis, Nager type (p. 418). Townes-Brocks syndrome: triad consisting of imperforate anus, dysplastic ears with or without preau-ricular tags (possibly associated with hearing impairment) and thumb malformations (triphalangeal, duplicated, hypoplastic). Associated features can include genitourinary malformations, congenital heart disease, foot malformations. Mental retardation is not common. Caused by dominant mutations in SALL1. Branchio-oto-renal (BOR) syndrome: facial asymmetry or facial palsy are variable features, branchial cleft sinus or fistula on the neck, malformations of ear structures (outer, middle and inner) cause conductive, sensorineural or mixed hearing loss, renal malformations. Autosomal dominant, there is genetic heterogeneity and three genes are known, EYA1, SIX5 and SIX1. VACTERL association (p. 590); MURCS association: uterine aplasia/hypoplasia, renal agenesis/ectopia, abnormal cervical or upper thoracic vertebrae, abnormal ribs, Sprengel shoulder, upper limb abnormalities and deafness.
The emergence of dihydroorotate dehydrogenase (DHODH) as a therapeutic target in acute myeloid leukemia
Published in Expert Opinion on Therapeutic Targets, 2018
Cells are capable of scavenging uridine from the extracellular environment via nucleoside transporters [1]. However, while the concentrations of extracellular uridine are as high as 10 µM, this is insufficient to sustain a dividing cell, and therefore the lack of DHODH activity is not compatible with life. Indeed, there are no DHODH-deficient animals. Even in the very rare Miller syndrome in humans, these severely affected individuals have hypomorphic alleles rather that complete loss of DHODH activity [2].