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 53 25
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 53 25 29 6 40 73
Gaze Palsy, Horizontal, with Progressive Scoliosis 53 13
Hgpps 53 25
Familial Infantile Scoliosis Associated with Bilateral Paralysis of Conjugate Gaze 25
Familial Idiopathic Scoliosis Associated with Congenital Encephalopathy 25
Familial Horizontal Gaze Palsy with Progressive Scoliosis 25
Ophthalmoplegia, Progressive External, and Scoliosis 25
Progressive External Ophthalmoplegia and Scoliosis 53

Classifications:



Summaries for Horizontal Gaze Palsy with Progressive Scoliosis

NIH Rare Diseases : 53 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 short neck and nystagmus

Genetics Home Reference : 25 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 12.9
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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 short neck 32 frequent (33%) HP:0000470
2 nystagmus 32 frequent (33%) HP:0000639
3 seizures 32 occasional (7.5%) HP:0001250
4 scoliosis 32 hallmark (90%) HP:0002650
5 kyphosis 32 hallmark (90%) HP:0002808
6 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
7 cognitive impairment 32 frequent (33%) HP:0100543
8 horizontal supranuclear gaze palsy 32 hallmark (90%) HP:0007817

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 29 ROBO3

Anatomical Context for Horizontal Gaze Palsy with Progressive Scoliosis

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

41
Eye, Brain

Publications for Horizontal Gaze Palsy with Progressive Scoliosis

Articles related to Horizontal Gaze Palsy with Progressive Scoliosis:

(show all 25)
# Title Authors Year
1
Horizontal gaze palsy with progressive scoliosis: a case report with magnetic resonance tractography and electrophysiological study. ( 29843650 )
2018
2
Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case. ( 29215389 )
2018
3
Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations? ( 30218396 )
2018
4
Horizontal gaze palsy with progressive scoliosis - A case report. ( 29089675 )
2017
5
A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis. ( 27267957 )
2017
6
Familial Horizontal Gaze Palsy With Progressive Scoliosis. ( 27682326 )
2016
7
Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report. ( 25885466 )
2015
8
Horizontal gaze palsy with progressive scoliosis in a Moroccan family. ( 24559884 )
2014
9
Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3. ( 26900705 )
2014
10
Radiological features of horizontal gaze palsy with progressive scoliosis. An 'Aunt Minnie' diagnosis? ( 24783716 )
2014
11
Infantile esotropia with cross-fixation, inability to abduct, and underlying horizontal gaze palsy with progressive scoliosis. ( 25448146 )
2014
12
Infantile esotropia with cross-fixation, inability to abduct, and underlying horizontal gaze palsy with progressive scoliosis. ( 24969490 )
2014
13
Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3. ( 26465116 )
2014
14
Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients. ( 21850172 )
2011
15
Ipsilateral stroke in a patient with horizontal gaze palsy with progressive scoliosis and a subcortical infarct. ( 21088243 )
2011
16
Diffusion tensor imaging in horizontal gaze palsy with progressive scoliosis. ( 20071118 )
2010
17
Allelic ROBO3 heterogeneity in Tunisian patients with horizontal gaze palsy with progressive scoliosis. ( 19633821 )
2009
18
Horizontal gaze palsy with progressive scoliosis: CT and MR findings. ( 19020872 )
2009
19
Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis. ( 18214457 )
2008
20
Gene symbol: ROBO3. Disease: Gaze Palsy, horizontal, with progressive scoliosis. ( 20960611 )
2008
21
Mutation in ROBO3 gene recently demonstrated in patients with horizontal gaze palsy with progressive scoliosis. ( 17296977 )
2007
22
Mutation in ROBO3 gene recently documented in patients with horizontal gaze palsy with progressive scoliosis. ( 16948950 )
2006
23
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. ( 16525029 )
2006
24
MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis. ( 15205146 )
2004
25
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....