MCID: HRZ002
MIFTS: 25

Horizontal Gaze Palsy with Progressive Scoliosis

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, with impaired intellectual development 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

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, with impaired intellectual development 13.0
2 gaze palsy, familial horizontal, with progressive scoliosis 1 12.2
3 scoliosis 10.9
4 supranuclear ocular palsy 10.9
5 keratoconus 10.4
6 monocular esotropia 10.4
7 esotropia 10.4
8 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 ROBO3

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 27)
# Title Authors Year
1
Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations? ( 30218396 )
2019
2
Teaching Video NeuroImages: Horizontal gaze palsy with progressive scoliosis. ( 30777921 )
2019
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: a case report with magnetic resonance tractography and electrophysiological study. ( 29843650 )
2018
5
A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis. ( 27267957 )
2017
6
Horizontal gaze palsy with progressive scoliosis - A case report. ( 29089675 )
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
Infantile esotropia with cross-fixation, inability to abduct, and underlying horizontal gaze palsy with progressive scoliosis. ( 24969490 )
2014
10
Infantile esotropia with cross-fixation, inability to abduct, and underlying horizontal gaze palsy with progressive scoliosis. ( 25448146 )
2014
11
Horizontal gaze palsy with progressive scoliosis in a Moroccan family. ( 24559884 )
2014
12
Radiological features of horizontal gaze palsy with progressive scoliosis. An 'Aunt Minnie' diagnosis? ( 24783716 )
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 and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3. ( 26900705 )
2014
15
Ipsilateral stroke in a patient with horizontal gaze palsy with progressive scoliosis and a subcortical infarct. ( 21088243 )
2011
16
Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients. ( 21850172 )
2011
17
Diffusion tensor imaging in horizontal gaze palsy with progressive scoliosis. ( 20071118 )
2010
18
Horizontal gaze palsy with progressive scoliosis: CT and MR findings. ( 19020872 )
2009
19
Allelic ROBO3 heterogeneity in Tunisian patients with horizontal gaze palsy with progressive scoliosis. ( 19633821 )
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
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. ( 16525029 )
2006
24
Mutation in ROBO3 gene recently documented in patients with horizontal gaze palsy with progressive scoliosis. ( 16948950 )
2006
25
MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis. ( 15205146 )
2004
26
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. ( 15105459 )
2004
27
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25. ( 12177379 )
2002

Variations for Horizontal Gaze Palsy with Progressive Scoliosis

ClinVar genetic disease variations for Horizontal Gaze Palsy with Progressive Scoliosis:

6 (show top 50) (show all 177)
# Gene Variation Type Significance SNP ID Assembly Location
1 ROBO3 NM_022370.3(ROBO3): c.1082G> A (p.Gly361Glu) single nucleotide variant Pathogenic rs121918270 GRCh37 Chromosome 11, 124740958: 124740958
2 ROBO3 NM_022370.3(ROBO3): c.1082G> A (p.Gly361Glu) single nucleotide variant Pathogenic rs121918270 GRCh38 Chromosome 11, 124871062: 124871062
3 ROBO3 ROBO3, 1-BP INS, 3325G insertion Pathogenic
4 ROBO3 NM_022370.3(ROBO3): c.2108G> C (p.Arg703Pro) single nucleotide variant Pathogenic rs121918271 GRCh37 Chromosome 11, 124745041: 124745041
5 ROBO3 NM_022370.3(ROBO3): c.2108G> C (p.Arg703Pro) single nucleotide variant Pathogenic rs121918271 GRCh38 Chromosome 11, 124875145: 124875145
6 ROBO3 NM_022370.3(ROBO3): c.2113T> C (p.Ser705Pro) single nucleotide variant Pathogenic rs121918272 GRCh37 Chromosome 11, 124745046: 124745046
7 ROBO3 NM_022370.3(ROBO3): c.2113T> C (p.Ser705Pro) single nucleotide variant Pathogenic rs121918272 GRCh38 Chromosome 11, 124875150: 124875150
8 ROBO3 NM_022370.3(ROBO3): c.1366G> T (p.Gly456Ter) single nucleotide variant Pathogenic rs121918273 GRCh37 Chromosome 11, 124742815: 124742815
9 ROBO3 NM_022370.3(ROBO3): c.1366G> T (p.Gly456Ter) single nucleotide variant Pathogenic rs121918273 GRCh38 Chromosome 11, 124872919: 124872919
10 ROBO3 NM_022370.3(ROBO3): c.955G> A (p.Glu319Lys) single nucleotide variant Pathogenic rs121918274 GRCh37 Chromosome 11, 124740546: 124740546
11 ROBO3 NM_022370.3(ROBO3): c.955G> A (p.Glu319Lys) single nucleotide variant Pathogenic rs121918274 GRCh38 Chromosome 11, 124870650: 124870650
12 ROBO3 ROBO3, 1-BP INS, 2310C insertion Pathogenic
13 ROBO3 NM_022370.3(ROBO3): c.14T> C (p.Leu5Pro) single nucleotide variant Pathogenic rs121918275 GRCh37 Chromosome 11, 124735487: 124735487
14 ROBO3 NM_022370.3(ROBO3): c.14T> C (p.Leu5Pro) single nucleotide variant Pathogenic rs121918275 GRCh38 Chromosome 11, 124865591: 124865591
15 ROBO3 NM_022370.3(ROBO3): c.196A> C (p.Ile66Leu) single nucleotide variant Pathogenic rs121918276 GRCh37 Chromosome 11, 124738733: 124738733
16 ROBO3 NM_022370.3(ROBO3): c.196A> C (p.Ile66Leu) single nucleotide variant Pathogenic rs121918276 GRCh38 Chromosome 11, 124868837: 124868837
17 ROBO3 NM_022370.4(ROBO3): c.2073+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 124874910: 124874910
18 ROBO3 NM_022370.4(ROBO3): c.2073+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 124744806: 124744806
19 ROBO3 NM_022370.4(ROBO3): c.1844_1845del (p.Thr615Serfs) deletion Pathogenic GRCh38 Chromosome 11, 124874129: 124874130
20 ROBO3 NM_022370.4(ROBO3): c.1844_1845del (p.Thr615Serfs) deletion Pathogenic GRCh37 Chromosome 11, 124744025: 124744026
21 ROBO3 NM_022370.4(ROBO3): c.1886_1887del (p.Val629Alafs) deletion Pathogenic GRCh38 Chromosome 11, 124874171: 124874172
22 ROBO3 NM_022370.4(ROBO3): c.1886_1887del (p.Val629Alafs) deletion Pathogenic GRCh37 Chromosome 11, 124744067: 124744068
23 ROBO3 NM_022370.3(ROBO3): c.733C> T (p.Arg245Trp) single nucleotide variant Pathogenic rs121918277 GRCh37 Chromosome 11, 124739931: 124739931
24 ROBO3 NM_022370.3(ROBO3): c.733C> T (p.Arg245Trp) single nucleotide variant Pathogenic rs121918277 GRCh38 Chromosome 11, 124870035: 124870035
25 ROBO3 NM_022370.3(ROBO3): c.2317C> T (p.Gln773Ter) single nucleotide variant Pathogenic rs121918278 GRCh37 Chromosome 11, 124745477: 124745477
26 ROBO3 NM_022370.3(ROBO3): c.2317C> T (p.Gln773Ter) single nucleotide variant Pathogenic rs121918278 GRCh38 Chromosome 11, 124875581: 124875581
27 ROBO3 NM_022370.3(ROBO3): c.1189C> T (p.Pro397Ser) single nucleotide variant Uncertain significance rs114572753 GRCh37 Chromosome 11, 124742307: 124742307
28 ROBO3 NM_022370.3(ROBO3): c.1189C> T (p.Pro397Ser) single nucleotide variant Uncertain significance rs114572753 GRCh38 Chromosome 11, 124872411: 124872411
29 ROBO3 NM_022370.3(ROBO3): c.1189C> T (p.Pro397Ser) single nucleotide variant Uncertain significance rs114572753 NCBI36 Chromosome 11, 124247517: 124247517
30 ROBO3 NM_022370.3(ROBO3): c.43T> C (p.Phe15Leu) single nucleotide variant Uncertain significance rs774646580 GRCh37 Chromosome 11, 124735516: 124735516
31 ROBO3 NM_022370.3(ROBO3): c.43T> C (p.Phe15Leu) single nucleotide variant Uncertain significance rs774646580 GRCh38 Chromosome 11, 124865620: 124865620
32 ROBO3 NM_022370.3(ROBO3): c.488-14A> C single nucleotide variant Benign rs11219820 GRCh37 Chromosome 11, 124739332: 124739332
33 ROBO3 NM_022370.3(ROBO3): c.488-14A> C single nucleotide variant Benign rs11219820 GRCh38 Chromosome 11, 124869436: 124869436
34 ROBO3 NM_022370.3(ROBO3): c.592G> A (p.Val198Met) single nucleotide variant Uncertain significance rs192622083 GRCh37 Chromosome 11, 124739450: 124739450
35 ROBO3 NM_022370.3(ROBO3): c.592G> A (p.Val198Met) single nucleotide variant Uncertain significance rs192622083 GRCh38 Chromosome 11, 124869554: 124869554
36 ROBO3 NM_022370.3(ROBO3): c.637A> C (p.Arg213=) single nucleotide variant Uncertain significance rs373366899 GRCh37 Chromosome 11, 124739495: 124739495
37 ROBO3 NM_022370.3(ROBO3): c.637A> C (p.Arg213=) single nucleotide variant Uncertain significance rs373366899 GRCh38 Chromosome 11, 124869599: 124869599
38 ROBO3 NM_022370.3(ROBO3): c.726G> C (p.Ala242=) single nucleotide variant Uncertain significance rs115272137 GRCh37 Chromosome 11, 124739924: 124739924
39 ROBO3 NM_022370.3(ROBO3): c.726G> C (p.Ala242=) single nucleotide variant Uncertain significance rs115272137 GRCh38 Chromosome 11, 124870028: 124870028
40 ROBO3 NM_022370.3(ROBO3): c.764T> C (p.Leu255Pro) single nucleotide variant Uncertain significance rs747047729 GRCh37 Chromosome 11, 124739962: 124739962
41 ROBO3 NM_022370.3(ROBO3): c.764T> C (p.Leu255Pro) single nucleotide variant Uncertain significance rs747047729 GRCh38 Chromosome 11, 124870066: 124870066
42 ROBO3 NM_022370.3(ROBO3): c.850G> A (p.Asp284Asn) single nucleotide variant Uncertain significance rs142090631 GRCh37 Chromosome 11, 124740144: 124740144
43 ROBO3 NM_022370.3(ROBO3): c.850G> A (p.Asp284Asn) single nucleotide variant Uncertain significance rs142090631 GRCh38 Chromosome 11, 124870248: 124870248
44 ROBO3 NM_022370.3(ROBO3): c.968C> T (p.Thr323Met) single nucleotide variant Uncertain significance rs151168595 GRCh37 Chromosome 11, 124740559: 124740559
45 ROBO3 NM_022370.3(ROBO3): c.968C> T (p.Thr323Met) single nucleotide variant Uncertain significance rs151168595 GRCh38 Chromosome 11, 124870663: 124870663
46 ROBO3 NM_022370.3(ROBO3): c.1104C> T (p.Cys368=) single nucleotide variant Benign rs35978862 GRCh37 Chromosome 11, 124740980: 124740980
47 ROBO3 NM_022370.3(ROBO3): c.1104C> T (p.Cys368=) single nucleotide variant Benign rs35978862 GRCh38 Chromosome 11, 124871084: 124871084
48 ROBO3 NM_022370.3(ROBO3): c.1247G> A (p.Arg416His) single nucleotide variant Benign rs3862618 GRCh37 Chromosome 11, 124742365: 124742365
49 ROBO3 NM_022370.3(ROBO3): c.1247G> A (p.Arg416His) single nucleotide variant Benign rs3862618 GRCh38 Chromosome 11, 124872469: 124872469
50 ROBO3 NM_022370.3(ROBO3): c.1515C> T (p.Thr505=) single nucleotide variant Uncertain significance rs769591533 GRCh37 Chromosome 11, 124742964: 124742964

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

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