familial horizontal gaze palsy with progressive scoliosis

mutation in ROBO3

Also Known As:

gaze palsy, familial horizontal, with progressive scoliosis; Familial Horizontal Gaze Palsy with Progressive Scoliosis; Familial Idiopathic Scoliosis Associated with Congenital Encephalopathy; Familial Infantile Scoliosis Associated with Bilateral Paralysis of Conjugate Gaze; HGPPS, Horizontal Gaze Palsy with Progressive Scoliosis; Hgpps; Horizontal Gaze Palsy with Progressive Scoliosis; Ophthalmoplegia, Progressive External, and Scoliosis

Networked: 7 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	familial horizontal gaze palsy with progressive scoliosis
2.	Rare Diseases (Rare Disease)
3.	Stroke (Strokes)
4.	Mobius Syndrome (Moebius Syndrome)
5.	Scoliosis

Experts

1.	Brandlhuber, U: 1 article (03/2015)
2.	Maertz, J: 1 article (03/2015)
3.	Nentwich, M F: 1 article (03/2015)
4.	Nentwich, M M: 1 article (03/2015)
5.	Rudolph, G: 1 article (03/2015)
6.	Abu-Amero, Khaled K: 1 article (11/2011)
7.	Alorainy, Ibrahim A: 1 article (11/2011)
8.	Bosley, Thomas M: 1 article (11/2011)
9.	Catalano, Dario: 1 article (11/2011)
10.	Faletra, Flavio: 1 article (11/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to familial horizontal gaze palsy with progressive scoliosis:

1.	Proteins (Proteins, Gene)FDA Link 11/01/2011 - "It is perhaps more likely that a phenotype identical to HGPPS can be caused by abnormalities in ROBO3 splice variant expression, by mutations of a gene other than ROBO3, or by some environmental or epigenetic factor(s) inhibiting the action of ROBO3 or its protein product in the developing brainstem." 11/01/2009 - "HGPPS is caused by mutations of the ROBO3 gene, which encodes a protein that shares homology with the roundabout family of transmembrane receptors that are important in axon guidance and neuronal migration. " 04/01/2011 - "Mutations in the Robo3 protein cause horizontal gaze palsy with progressive scoliosis (HGPPS), a rare disease marked by severe scoliosis. "
2.	KinesinsIBA 03/01/2015 - "In this review, congenital fibrosis of the extraocular muscles (CFEOM), Duane syndrome, horizontal gaze palsy with progressive scoliosis, congenital ptosis and Moebius syndrome are presented and basic principles of intracellular transport mechanisms and kinesins are discussed. "
3.	NucleotidesIBA 01/01/2022 - "Whole-exome sequencing was performed to detect nucleotide variations in the disease-causing genes of HGPPS. "
4.	LigandsIBA 07/01/2009 - "The Roundabout (Robo) family of receptors and their Slit ligands play well-established roles in axonal guidance, including in humans where horizontal gaze palsy with progressive scoliosis (HGPPS) is caused by mutations in the robo3 gene. "
5.	Codon (Codons)IBA 01/01/2011 - "To our knowledge, both diffusion tensor imaging evaluation in HGPPS patients who present with stroke and truncating stop codon mutation in the ROBO3 gene have yet to be reported. "