HGPPS
MCID: HRZ002
MIFTS: 29

Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Horizontal Gaze Palsy with Progressive Scoliosis

MalaCards integrated aliases for Horizontal Gaze Palsy with Progressive Scoliosis:

Name: Horizontal Gaze Palsy with Progressive Scoliosis 54 26
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 54 26 30 6 41 74
Gaze Palsy, Horizontal, with Progressive Scoliosis 54 13
Hgpps 54 26
Familial Infantile Scoliosis Associated with Bilateral Paralysis of Conjugate Gaze 26
Familial Idiopathic Scoliosis Associated with Congenital Encephalopathy 26
Familial Horizontal Gaze Palsy with Progressive Scoliosis 26
Ophthalmoplegia, Progressive External, and Scoliosis 26
Progressive External Ophthalmoplegia and Scoliosis 54

Classifications:



Summaries for Horizontal Gaze Palsy with Progressive Scoliosis

NIH Rare Diseases : 54 Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally) and must turn their head instead of moving their eyes to track moving objects. Scoliosis develops in infancy or childhood and worsens over time. Scoliosis can be painful and may interfere with movement so it is often treated with surgery early in life. HGPPS is caused by changes (mutations) in the ROBO3 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Horizontal Gaze Palsy with Progressive Scoliosis, also known as gaze palsy, familial horizontal, with progressive scoliosis, is related to gaze palsy, familial horizontal, with progressive scoliosis, 2 and gaze palsy, familial horizontal, with progressive scoliosis, 1. An important gene associated with Horizontal Gaze Palsy with Progressive Scoliosis is ROBO3 (Roundabout Guidance Receptor 3). Affiliated tissues include eye and brain, and related phenotypes are scoliosis and kyphosis

Genetics Home Reference : 26 Horizontal gaze palsy with progressive scoliosis (HGPPS) is a disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally). As a result, affected individuals must turn their head instead of moving their eyes to track moving objects. Up-and-down (vertical) eye movements are typically normal.

Related Diseases for Horizontal Gaze Palsy with Progressive Scoliosis

Diseases in the Horizontal Gaze Palsy with Progressive Scoliosis family:

Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2

Diseases related to Horizontal Gaze Palsy with Progressive Scoliosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gaze palsy, familial horizontal, with progressive scoliosis, 2 13.0
2 gaze palsy, familial horizontal, with progressive scoliosis, 1 12.1
3 scoliosis 10.9
4 supranuclear ocular palsy 10.9
5 keratoconus 10.4
6 esotropia 10.4
7 infantile scoliosis 10.3

Graphical network of the top 20 diseases related to Horizontal Gaze Palsy with Progressive Scoliosis:



Diseases related to Horizontal Gaze Palsy with Progressive Scoliosis

Symptoms & Phenotypes for Horizontal Gaze Palsy with Progressive Scoliosis

Human phenotypes related to Horizontal Gaze Palsy with Progressive Scoliosis:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 hallmark (90%) HP:0002650
2 kyphosis 33 hallmark (90%) HP:0002808
3 horizontal supranuclear gaze palsy 33 hallmark (90%) HP:0007817
4 short neck 33 frequent (33%) HP:0000470
5 nystagmus 33 frequent (33%) HP:0000639
6 cognitive impairment 33 frequent (33%) HP:0100543
7 seizures 33 occasional (7.5%) HP:0001250
8 sensorineural hearing impairment 33 occasional (7.5%) HP:0000407

Drugs & Therapeutics for Horizontal Gaze Palsy with Progressive Scoliosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420

Search NIH Clinical Center for Horizontal Gaze Palsy with Progressive Scoliosis

Genetic Tests for Horizontal Gaze Palsy with Progressive Scoliosis

Genetic tests related to Horizontal Gaze Palsy with Progressive Scoliosis:

# Genetic test Affiliating Genes
1 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 30

Anatomical Context for Horizontal Gaze Palsy with Progressive Scoliosis

MalaCards organs/tissues related to Horizontal Gaze Palsy with Progressive Scoliosis:

42
Eye, Brain

Publications for Horizontal Gaze Palsy with Progressive Scoliosis

Articles related to Horizontal Gaze Palsy with Progressive Scoliosis:

(show all 26)
# Title Authors Year
1
Teaching Video NeuroImages: Horizontal gaze palsy with progressive scoliosis. ( 30777921 )
2019
2
Horizontal gaze palsy with progressive scoliosis: a case report with magnetic resonance tractography and electrophysiological study. ( 29843650 )
2018
3
Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case. ( 29215389 )
2018
4
Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations? ( 30218396 )
2018
5
Horizontal gaze palsy with progressive scoliosis - A case report. ( 29089675 )
2017
6
A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis. ( 27267957 )
2017
7
Familial Horizontal Gaze Palsy With Progressive Scoliosis. ( 27682326 )
2016
8
Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report. ( 25885466 )
2015
9
Horizontal gaze palsy with progressive scoliosis in a Moroccan family. ( 24559884 )
2014
10
Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3. ( 26900705 )
2014
11
Radiological features of horizontal gaze palsy with progressive scoliosis. An 'Aunt Minnie' diagnosis? ( 24783716 )
2014
12
Infantile esotropia with cross-fixation, inability to abduct, and underlying horizontal gaze palsy with progressive scoliosis. ( 25448146 )
2014
13
Infantile esotropia with cross-fixation, inability to abduct, and underlying horizontal gaze palsy with progressive scoliosis. ( 24969490 )
2014
14
Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3. ( 26465116 )
2014
15
Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients. ( 21850172 )
2011
16
Ipsilateral stroke in a patient with horizontal gaze palsy with progressive scoliosis and a subcortical infarct. ( 21088243 )
2011
17
Diffusion tensor imaging in horizontal gaze palsy with progressive scoliosis. ( 20071118 )
2010
18
Allelic ROBO3 heterogeneity in Tunisian patients with horizontal gaze palsy with progressive scoliosis. ( 19633821 )
2009
19
Horizontal gaze palsy with progressive scoliosis: CT and MR findings. ( 19020872 )
2009
20
Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis. ( 18214457 )
2008
21
Gene symbol: ROBO3. Disease: Gaze Palsy, horizontal, with progressive scoliosis. ( 20960611 )
2008
22
Mutation in ROBO3 gene recently demonstrated in patients with horizontal gaze palsy with progressive scoliosis. ( 17296977 )
2007
23
Mutation in ROBO3 gene recently documented in patients with horizontal gaze palsy with progressive scoliosis. ( 16948950 )
2006
24
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. ( 16525029 )
2006
25
MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis. ( 15205146 )
2004
26
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25. ( 12177379 )
2002

Variations for Horizontal Gaze Palsy with Progressive Scoliosis

Expression for Horizontal Gaze Palsy with Progressive Scoliosis

Search GEO for disease gene expression data for Horizontal Gaze Palsy with Progressive Scoliosis.

Pathways for Horizontal Gaze Palsy with Progressive Scoliosis

GO Terms for Horizontal Gaze Palsy with Progressive Scoliosis

Sources for Horizontal Gaze Palsy with Progressive Scoliosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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