HGPPS1
MCID: GZP005
MIFTS: 30

Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1 (HGPPS1)

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

Aliases & Classifications for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

MalaCards integrated aliases for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1:

Name: Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1 57 29 6
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 57 72
Hgpps1 57 72
Hgpps 57 72
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 70
Familial Horizontal Gaze Palsy with Progressive Scoliosis 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of gaze palsy at birth
onset of scoliosis as early as 2 years of age


HPO:

31
gaze palsy, familial horizontal, with progressive scoliosis 1:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM® 57 607313
OMIM Phenotypic Series 57 PS607313
SNOMED-CT via HPO 68 16026008 258211005
UMLS 70 C1846496

Summaries for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

OMIM® : 57 HGPPS is an autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis. These features are associated with a developmental malformation of the brainstem including hypoplasia of the pons and cerebellar peduncles and defective decussation of certain neuronal systems. Cognitive function is normal (summary by Bosley et al., 2005). (607313) (Updated 20-May-2021)

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

UniProtKB/Swiss-Prot : 72 Gaze palsy, familial horizontal, with progressive scoliosis, 1: An autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth, childhood-onset progressive scoliosis, distinctive brainstem malformation and defective crossing of some brainstem neuronal pathways.

Related Diseases for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

Diseases in the Horizontal Gaze Palsy with Progressive Scoliosis family:

Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

Diseases related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 horizontal gaze palsy with progressive scoliosis 11.6
2 scoliosis 10.5
3 autosomal recessive disease 10.3

Symptoms & Phenotypes for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

Human phenotypes related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1:

31
# Description HPO Frequency HPO Source Accession
1 cerebellar hypoplasia 31 HP:0001321
2 horizontal supranuclear gaze palsy 31 HP:0007817
3 hypoplasia of the pons 31 HP:0012110
4 thoracolumbar scoliosis 31 HP:0002944
5 progressive ophthalmoplegia 31 HP:0007650

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
cerebellar hypoplasia
pontine hypoplasia
defective decussation of certain brainstem neuronal axonal pathways

Skeletal Spine:
scoliosis, thoracolumbar, severe, progressive

Head And Neck Eyes:
gaze palsy, horizontal
ophthalmoplegia, progressive external

Clinical features from OMIM®:

607313 (Updated 20-May-2021)

Drugs & Therapeutics for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

Search Clinical Trials , NIH Clinical Center for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

Genetic Tests for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

Genetic tests related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1:

# Genetic test Affiliating Genes
1 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1 29 ROBO3

Anatomical Context for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

MalaCards organs/tissues related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1:

40
Eye, Pons, Brain

Publications for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

Articles related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1:

(show all 46)
# Title Authors PMID Year
1
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. 57 6 61
16525029 2006
2
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. 61 6 57
15105459 2004
3
Horizontal gaze palsy and progressive scoliosis in a patient with congenital esotropia and inability to abduct. A case report. 6 61
27318526 2016
4
Allelic ROBO3 heterogeneity in Tunisian patients with horizontal gaze palsy with progressive scoliosis. 61 6
19633821 2009
5
Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations. 6 61
18829051 2009
6
Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing. 61 6
16772357 2006
7
Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. 57 61
15824346 2005
8
Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case. 6
29215389 2018
9
Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations. 6
28024310 2017
10
Infantile esotropia with cross-fixation, inability to abduct, and underlying horizontal gaze palsy with progressive scoliosis. 6
24969490 2014
11
Bilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu). 6
19041479 2008
12
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25. 57
12177379 2002
13
Familial infantile scoliosis associated with bilateral paralysis of conjugate gaze. 57
537018 1979
14
Familial paralysis of horizontal gaze. Associated with pendular nystagmus, progressive scoliosis, and facial contraction with myokymia. 57
1237821 1975
15
Congenital scoliosis associated with encephalopathy in five children of two families. 57
4434049 1974
16
Scoliosis with progressive external ophthalmoplegia in four siblings. 57
4421461 1974
17
Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family. 61
32705527 2021
18
Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review. 61
32580277 2020
19
Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases. 61
32373565 2020
20
Horizontal Gaze Palsy with Progressive Scoliosis: A Case Report and Literature Review. 61
31741681 2019
21
Horizontal gaze palsy and progressive scoliosis with two novel ROBO3 gene mutations in two Jordanian families. 61
30985235 2019
22
Horizontal gaze palsy with progressive scoliosis: a case report with magnetic resonance tractography and electrophysiological study. 61
29843650 2018
23
Horizontal gaze palsy with progressive scoliosis - A case report. 61
29089675 2017
24
Horizontal Gaze Palsy and Progressive Scoliosis With ROBO 3 Mutations in Patients From Cape Verde. 61
27749773 2017
25
Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report. 61
25885466 2015
26
Horizontal gaze palsy with progressive scoliosis in a Moroccan family. 61
24559884 2014
27
Radiological features of horizontal gaze palsy with progressive scoliosis. An 'Aunt Minnie' diagnosis? 61
24783716 2014
28
Early-onset or rapidly progressive scoliosis in children: check the eyes! 61
23810770 2013
29
Horizontal gaze palsy and scoliosis: a case report and review of the literature. 61
25031520 2013
30
The EBAX-type Cullin-RING E3 ligase and Hsp90 guard the protein quality of the SAX-3/Robo receptor in developing neurons. 61
24012004 2013
31
The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease. 61
24138051 2013
32
Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations. 61
21510772 2011
33
Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes. 61
21216876 2011
34
Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients. 61
21850172 2011
35
Ipsilateral stroke in a patient with horizontal gaze palsy with progressive scoliosis and a subcortical infarct. 61
21088243 2011
36
Genetic dissection of the function of hindbrain axonal commissures. 61
20231872 2010
37
Diffusion tensor imaging in horizontal gaze palsy with progressive scoliosis. 61
20071118 2010
38
Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis. 61
20069218 2009
39
Unidirectional startle responses and disrupted left-right co-ordination of motor behaviors in robo3 mutant zebrafish. 61
19496826 2009
40
Horizontal gaze palsy with progressive scoliosis: CT and MR findings. 61
19020872 2009
41
Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis. 61
18214457 2008
42
Effects of failure of development of crossing brainstem pathways on ocular motor control. 61
18718292 2008
43
Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. 61
16894121 2006
44
Mutations in ROBO3 cause HGPPS. 61
15176408 2004
45
MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis. 61
15205146 2004
46
Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements. 61
15747768 2004

Variations for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

ClinVar genetic disease variations for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1:

6 (show top 50) (show all 145)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ROBO3 ROBO3, 1-BP INS, 3325G Insertion Pathogenic 2173 GRCh37:
GRCh38:
2 ROBO3 NM_022370.4(ROBO3):c.1366G>T (p.Gly456Ter) SNV Pathogenic 2176 rs121918273 GRCh37: 11:124742815-124742815
GRCh38: 11:124872919-124872919
3 ROBO3 NM_022370.4(ROBO3):c.2073+1G>A SNV Pathogenic 2181 rs1565312616 GRCh37: 11:124744806-124744806
GRCh38: 11:124874910-124874910
4 ROBO3 NM_022370.4(ROBO3):c.1838_1839CA[3] (p.Thr615fs) Microsatellite Pathogenic 2182 rs775068146 GRCh37: 11:124744018-124744019
GRCh38: 11:124874122-124874123
5 ROBO3 NM_022370.4(ROBO3):c.1886_1887del (p.Val629fs) Deletion Pathogenic 2183 rs1565312182 GRCh37: 11:124744067-124744068
GRCh38: 11:124874171-124874172
6 ROBO3 NM_022370.4(ROBO3):c.2317C>T (p.Gln773Ter) SNV Pathogenic 2185 rs121918278 GRCh37: 11:124745477-124745477
GRCh38: 11:124875581-124875581
7 ROBO3 ROBO3, 1-BP INS, 2310C Insertion Pathogenic 2178 GRCh37:
GRCh38:
8 ROBO3 NM_022370.4(ROBO3):c.4098del (p.Arg1367fs) Deletion Pathogenic 779379 rs759310343 GRCh37: 11:124750453-124750453
GRCh38: 11:124880557-124880557
9 ROBO3 NM_022370.4(ROBO3):c.4144C>T (p.Arg1382Ter) SNV Pathogenic 998322 GRCh37: 11:124750499-124750499
GRCh38: 11:124880603-124880603
10 ROBO3 NM_022370.4(ROBO3):c.3958+1G>A SNV Pathogenic 1033594 GRCh37: 11:124749845-124749845
GRCh38: 11:124879949-124879949
11 ROBO3 NM_022370.4(ROBO3):c.3412del (p.Arg1138fs) Deletion Likely pathogenic 974849 GRCh37: 11:124748569-124748569
GRCh38: 11:124878673-124878673
12 ROBO3 NM_022370.4(ROBO3):c.767-1G>A SNV Likely pathogenic 974850 GRCh37: 11:124740060-124740060
GRCh38: 11:124870164-124870164
13 ROBO3 NM_022370.4(ROBO3):c.2312C>T (p.Pro771Leu) SNV Likely pathogenic 996102 GRCh37: 11:124745472-124745472
GRCh38: 11:124875576-124875576
14 ROBO3 NM_022370.4(ROBO3):c.2663T>C (p.Leu888Pro) SNV Likely pathogenic 996103 GRCh37: 11:124746240-124746240
GRCh38: 11:124876344-124876344
15 ROBO3 NM_022370.4(ROBO3):c.1433C>T (p.Pro478Leu) SNV Likely pathogenic 996105 GRCh37: 11:124742882-124742882
GRCh38: 11:124872986-124872986
16 ROBO3 NM_022370.4(ROBO3):c.1450T>C (p.Trp484Arg) SNV Likely pathogenic 996106 GRCh37: 11:124742899-124742899
GRCh38: 11:124873003-124873003
17 ROBO3 NM_022370.4(ROBO3):c.1726T>C (p.Trp576Arg) SNV Likely pathogenic 996107 GRCh37: 11:124743700-124743700
GRCh38: 11:124873804-124873804
18 ROBO3 NM_022370.4(ROBO3):c.1158G>C (p.Gln386His) SNV Likely pathogenic 996108 GRCh37: 11:124741034-124741034
GRCh38: 11:124871138-124871138
19 ROBO3 NM_022370.4(ROBO3):c.271C>T (p.Pro91Ser) SNV Likely pathogenic 996109 GRCh37: 11:124738808-124738808
GRCh38: 11:124868912-124868912
20 ROBO3 NM_022370.4(ROBO3):c.416G>T (p.Gly139Val) SNV Likely pathogenic 996112 GRCh37: 11:124738953-124738953
GRCh38: 11:124869057-124869057
21 ROBO3 NM_022370.4(ROBO3):c.335G>C (p.Arg112Pro) SNV Likely pathogenic 996119 GRCh37: 11:124738872-124738872
GRCh38: 11:124868976-124868976
22 ROBO3 NM_022370.4(ROBO3):c.284T>C (p.Ile95Thr) SNV Likely pathogenic 996120 GRCh37: 11:124738821-124738821
GRCh38: 11:124868925-124868925
23 ROBO3 NM_022370.4(ROBO3):c.1082G>A (p.Gly361Glu) SNV Likely pathogenic 2172 rs121918270 GRCh37: 11:124740958-124740958
GRCh38: 11:124871062-124871062
24 ROBO3 NM_022370.4(ROBO3):c.14T>C (p.Leu5Pro) SNV Likely pathogenic 2179 rs121918275 GRCh37: 11:124735487-124735487
GRCh38: 11:124865591-124865591
25 ROBO3 NM_022370.4(ROBO3):c.196A>C (p.Ile66Leu) SNV Likely pathogenic 2180 rs121918276 GRCh37: 11:124738733-124738733
GRCh38: 11:124868837-124868837
26 ROBO3 NM_022370.4(ROBO3):c.955G>A (p.Glu319Lys) SNV Likely pathogenic 2177 rs121918274 GRCh37: 11:124740546-124740546
GRCh38: 11:124870650-124870650
27 ROBO3 NM_022370.4(ROBO3):c.2108G>C (p.Arg703Pro) SNV Likely pathogenic 2174 rs121918271 GRCh37: 11:124745041-124745041
GRCh38: 11:124875145-124875145
28 ROBO3 NM_022370.4(ROBO3):c.2113T>C (p.Ser705Pro) SNV Likely pathogenic 2175 rs121918272 GRCh37: 11:124745046-124745046
GRCh38: 11:124875150-124875150
29 ROBO3 NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp) SNV Conflicting interpretations of pathogenicity 2184 rs121918277 GRCh37: 11:124739931-124739931
GRCh38: 11:124870035-124870035
30 ROBO3 NM_022370.4(ROBO3):c.1379A>G (p.Gln460Arg) SNV Conflicting interpretations of pathogenicity 632151 rs771613910 GRCh37: 11:124742828-124742828
GRCh38: 11:124872932-124872932
31 ROBO3 NM_022370.4(ROBO3):c.2329dup (p.Val777fs) Duplication Uncertain significance 632152 rs750231138 GRCh37: 11:124745487-124745488
GRCh38: 11:124875591-124875592
32 ROBO3 NM_022370.4(ROBO3):c.4137_4138del (p.Lys1380fs) Deletion Uncertain significance 632153 rs1277832845 GRCh37: 11:124750491-124750492
GRCh38: 11:124880595-124880596
33 ROBO3 NM_022370.4(ROBO3):c.1235C>T (p.Thr412Ile) SNV Uncertain significance 870416 GRCh37: 11:124742353-124742353
GRCh38: 11:124872457-124872457
34 ROBO3 NM_022370.4(ROBO3):c.770G>A (p.Arg257His) SNV Uncertain significance 877305 GRCh37: 11:124740064-124740064
GRCh38: 11:124870168-124870168
35 ROBO3 NM_022370.4(ROBO3):c.2515C>A (p.Leu839Ile) SNV Uncertain significance 877358 GRCh37: 11:124745943-124745943
GRCh38: 11:124876047-124876047
36 ROBO3 NM_022370.4(ROBO3):c.3788G>C (p.Ser1263Thr) SNV Uncertain significance 877412 GRCh37: 11:124749463-124749463
GRCh38: 11:124879567-124879567
37 ROBO3 NM_022370.4(ROBO3):c.1194G>A (p.Thr398=) SNV Uncertain significance 747318 rs369032140 GRCh37: 11:124742312-124742312
GRCh38: 11:124872416-124872416
38 ROBO3 NM_022370.4(ROBO3):c.1619-9C>T SNV Uncertain significance 878340 GRCh37: 11:124743584-124743584
GRCh38: 11:124873688-124873688
39 ROBO3 NM_022370.4(ROBO3):c.2699C>T (p.Ala900Val) SNV Uncertain significance 878383 GRCh37: 11:124746276-124746276
GRCh38: 11:124876380-124876380
40 ROBO3 NM_022370.4(ROBO3):c.2879C>T (p.Ser960Leu) SNV Uncertain significance 878384 GRCh37: 11:124747447-124747447
GRCh38: 11:124877551-124877551
41 ROBO3 NM_022370.4(ROBO3):c.3836C>T (p.Ala1279Val) SNV Uncertain significance 878435 GRCh37: 11:124749722-124749722
GRCh38: 11:124879826-124879826
42 ROBO3 NM_022370.4(ROBO3):c.4010G>A (p.Gly1337Asp) SNV Uncertain significance 878436 GRCh37: 11:124750365-124750365
GRCh38: 11:124880469-124880469
43 ROBO3 NM_022370.4(ROBO3):c.4087C>T (p.Arg1363Trp) SNV Uncertain significance 878437 GRCh37: 11:124750442-124750442
GRCh38: 11:124880546-124880546
44 ROBO3 NM_022370.4(ROBO3):c.4100G>A (p.Arg1367Gln) SNV Uncertain significance 878438 GRCh37: 11:124750455-124750455
GRCh38: 11:124880559-124880559
45 ROBO3 NM_022370.4(ROBO3):c.1634C>T (p.Ser545Leu) SNV Uncertain significance 878925 GRCh37: 11:124743608-124743608
GRCh38: 11:124873712-124873712
46 ROBO3 NM_022370.4(ROBO3):c.1805G>T (p.Trp602Leu) SNV Uncertain significance 878926 GRCh37: 11:124743986-124743986
GRCh38: 11:124874090-124874090
47 ROBO3 NM_022370.4(ROBO3):c.1808G>A (p.Arg603His) SNV Uncertain significance 878927 GRCh37: 11:124743989-124743989
GRCh38: 11:124874093-124874093
48 ROBO3 NM_022370.4(ROBO3):c.1953T>C (p.Asp651=) SNV Uncertain significance 878928 GRCh37: 11:124744685-124744685
GRCh38: 11:124874789-124874789
49 ROBO3 NM_022370.4(ROBO3):c.3042C>T (p.Gly1014=) SNV Uncertain significance 878972 GRCh37: 11:124747888-124747888
GRCh38: 11:124877992-124877992
50 ROBO3 NM_022370.4(ROBO3):c.3275G>C (p.Cys1092Ser) SNV Uncertain significance 878973 GRCh37: 11:124748287-124748287
GRCh38: 11:124878391-124878391

UniProtKB/Swiss-Prot genetic disease variations for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1:

72
# Symbol AA change Variation ID SNP ID
1 ROBO3 p.Glu319Lys VAR_019073 rs121918274
2 ROBO3 p.Arg703Pro VAR_019074 rs121918271
3 ROBO3 p.Ser705Pro VAR_019075 rs121918272
4 ROBO3 p.Leu5Pro VAR_019119 rs121918275
5 ROBO3 p.Ile66Leu VAR_019120 rs121918276
6 ROBO3 p.Gly361Glu VAR_019121 rs121918270

Expression for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

Search GEO for disease gene expression data for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1.

Pathways for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

GO Terms for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

Sources for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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