HGPPS1
MCID: GZP005
MIFTS: 24

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 58
Hgpps 58 60 76
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 58 76
Hgpps1 58 76
Familial Horizontal Gaze Palsy with Progressive Scoliosis 76
Progressive External Ophthalmoplegia and Scoliosis 60
Horizontal Gaze Palsy with Progressive Scoliosis 60

Characteristics:

Orphanet epidemiological data:

60
horizontal gaze palsy with progressive scoliosis
Age of onset: Adolescent,Childhood;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
gaze palsy, familial horizontal, with progressive scoliosis 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 607313
ICD10 via Orphanet 35 H49.4
UMLS via Orphanet 75 C1846496
Orphanet 60 ORPHA2744
SNOMED-CT via HPO 70 16026008 258211005

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

OMIM : 58 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)

MalaCards based summary : Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1, also known as hgpps, 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 and pons, and related phenotypes are horizontal supranuclear gaze palsy and short neck

UniProtKB/Swiss-Prot : 76 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 11.9
2 scoliosis 10.9
3 supranuclear ocular palsy 10.9
4 keratoconus 10.4
5 monocular esotropia 10.4
6 esotropia 10.4

Graphical network of the top 20 diseases related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1:



Diseases related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

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

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

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 horizontal supranuclear gaze palsy 60 33 Very frequent (99-80%) HP:0007817
2 short neck 60 Frequent (79-30%)
3 nystagmus 60 Frequent (79-30%)
4 seizures 60 Occasional (29-5%)
5 scoliosis 60 Very frequent (99-80%)
6 kyphosis 60 Very frequent (99-80%)
7 sensorineural hearing impairment 60 Occasional (29-5%)
8 cognitive impairment 60 Frequent (79-30%)
9 cerebellar hypoplasia 33 HP:0001321
10 hypoplasia of the pons 33 HP:0012110
11 thoracolumbar scoliosis 33 HP:0002944
12 progressive ophthalmoplegia 33 HP:0007650

Symptoms via clinical synopsis from OMIM:

58
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

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

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

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

42
Eye, Pons

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

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

# Title Authors Year
1
Familial Horizontal Gaze Palsy With Progressive Scoliosis. ( 27682326 )
2016
2
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25. ( 12177379 )
2002

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

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

76
# 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

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

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 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1

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