ArQule's pipeline includes: ARQ 531, an orally bioavailable, potent and reversible dual inhibitor of both wild type and C481S-mutant BTK, in phase 1 for patients with B-cell malignancies refractory to other therapeutic options; miransertib (ARQ 092), a potent and selective inhibitor of the AKT serine/threonine kinase, in a planned registrational trial with cohorts in
Proteus syndrome and PROS to initiate in 2019; ARQ 751, a next generation highly potent and selective AKT inhibitor, in phase 1 for patients with AKT1 and PI3K mutations; and derazantinib, a multi-kinase inhibitor designed to preferentially inhibit the fibroblast growth factor receptor family, in a registrational trial for iCCA in collaboration with Basilea and Sinovant.
ArQule announced preliminary results from the company's phase 1/2 study of its pan-AKT inhibitor, miransertib, in patients with PIK3CA-related Overgrowth Spectrum, or PROS, and
Proteus syndrome, or PS, in an oral presentation at the European Society of Human Genetics Conference.
Merrick, who suffered from
Proteus syndrome, was played in the award-winning 1980 film The Elephant Man by John Hurt.
Some have suggested that he was suffering from a rare disease known as
Proteus syndrome, which causes extreme overgrowth in the bones, skin and other organs.
Merrick, who had
Proteus syndrome, a rare genetic disorder, died aged 27 in April 1890, choked by the weight of his head.
To date, there are six specific epidermal nevus syndromes identified: sebaceous nevus syndrome, nevus comedonicus syndrome, Becker nevus syndrome, phakomatosis pigmentokeratotica,
Proteus syndrome, congenital hemidysplasia with ichthyosiform nevus and limb defects, and cutaneous-skeletal hypophosphatemia syndrome.
The prototype for Happle-type mosaicism is
Proteus syndrome, formerly known as Elephant Man disease, which is caused by a mutation in the AKTl gene.
The relation of
Proteus syndrome and Proteus-like syndrome with PTEN mutations is controversial [20].
There, he acquired insight into the physiologic reconstruction of the foot and ankle surgery at the Morristown Medical Center and performed case study research on various pediatric conditions such as Epidermal Skin Grafting, Ipsilateral Foot
Proteus Syndrome and more.
Vacha et al., "PTEN mutations and
proteus syndrome," Lancet, vol.
This condition is very rare and is usually described in association with other systemic disorders such as Klippel-trenaunay syndrome or
Proteus syndrome [10, 11].
The differential diagnosis for macrodactyly include a variety of conditions associated with hypertrophy due to neurofibromatosis, Albright's dysplasia, Lymphangioma, arteriovenous fistula, fibrous dysplasia, Sturge-Weber syndrome, and
proteus syndrome. A variety of syndromes are described along with macrodactyly.