MCID: GZP003
MIFTS: 22

Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Fetal 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 75
Hgpps 57 59 75
Hgpps1 57 75
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 73
Familial Horizontal Gaze Palsy with Progressive Scoliosis 75
Progressive External Ophthalmoplegia and Scoliosis 59
Horizontal Gaze Palsy with Progressive Scoliosis 59

Characteristics:

Orphanet epidemiological data:

59
horizontal gaze palsy with progressive scoliosis
Age of onset: Adolescent,Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
gaze palsy, familial horizontal, with progressive scoliosis, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 607313
Orphanet 59 ORPHA2744
UMLS via Orphanet 74 C1846496
ICD10 via Orphanet 34 H49.4
MedGen 42 C1846496
SNOMED-CT via HPO 69 258211005
UMLS 73 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)

MalaCards based summary : Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1, also known as hgpps, is related to horizontal gaze palsy with progressive 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 sensorineural hearing impairment

UniProtKB/Swiss-Prot : 75 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 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 11.7

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
gaze palsy, horizontal
ophthalmoplegia, progressive external

Neurologic Central Nervous System:
pontine hypoplasia
cerebellar hypoplasia
defective decussation of certain brainstem neuronal axonal pathways

Skeletal Spine:
scoliosis, thoracolumbar, severe, progressive


Clinical features from OMIM:

607313

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

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 horizontal supranuclear gaze palsy 59 32 Very frequent (99-80%) HP:0007817
2 sensorineural hearing impairment 59 Occasional (29-5%)
3 short neck 59 Frequent (79-30%)
4 nystagmus 59 Frequent (79-30%)
5 seizures 59 Occasional (29-5%)
6 scoliosis 59 Very frequent (99-80%)
7 kyphosis 59 Very frequent (99-80%)
8 cognitive impairment 59 Frequent (79-30%)
9 thoracolumbar scoliosis 32 HP:0002944
10 progressive ophthalmoplegia 32 HP:0007650

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:

41
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:

75
# 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 169)
# 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 ROBO3, IVS13DS, G-A, +1 single nucleotide variant Pathogenic
18 ROBO3 ROBO3, 2-BP DEL, 1844CA deletion Pathogenic
19 ROBO3 ROBO3, 2-BP DEL, 1886TT deletion Pathogenic
20 ROBO3 NM_022370.3(ROBO3): c.733C> T (p.Arg245Trp) single nucleotide variant Pathogenic rs121918277 GRCh37 Chromosome 11, 124739931: 124739931
21 ROBO3 NM_022370.3(ROBO3): c.733C> T (p.Arg245Trp) single nucleotide variant Pathogenic rs121918277 GRCh38 Chromosome 11, 124870035: 124870035
22 ROBO3 NM_022370.3(ROBO3): c.2317C> T (p.Gln773Ter) single nucleotide variant Pathogenic rs121918278 GRCh37 Chromosome 11, 124745477: 124745477
23 ROBO3 NM_022370.3(ROBO3): c.2317C> T (p.Gln773Ter) single nucleotide variant Pathogenic rs121918278 GRCh38 Chromosome 11, 124875581: 124875581
24 ROBO3 NM_022370.3(ROBO3): c.43T> C (p.Phe15Leu) single nucleotide variant Uncertain significance rs774646580 GRCh37 Chromosome 11, 124735516: 124735516
25 ROBO3 NM_022370.3(ROBO3): c.43T> C (p.Phe15Leu) single nucleotide variant Uncertain significance rs774646580 GRCh38 Chromosome 11, 124865620: 124865620
26 ROBO3 NM_022370.3(ROBO3): c.488-14A> C single nucleotide variant Benign rs11219820 GRCh37 Chromosome 11, 124739332: 124739332
27 ROBO3 NM_022370.3(ROBO3): c.488-14A> C single nucleotide variant Benign rs11219820 GRCh38 Chromosome 11, 124869436: 124869436
28 ROBO3 NM_022370.3(ROBO3): c.592G> A (p.Val198Met) single nucleotide variant Uncertain significance rs192622083 GRCh37 Chromosome 11, 124739450: 124739450
29 ROBO3 NM_022370.3(ROBO3): c.592G> A (p.Val198Met) single nucleotide variant Uncertain significance rs192622083 GRCh38 Chromosome 11, 124869554: 124869554
30 ROBO3 NM_022370.3(ROBO3): c.637A> C (p.Arg213=) single nucleotide variant Uncertain significance rs373366899 GRCh37 Chromosome 11, 124739495: 124739495
31 ROBO3 NM_022370.3(ROBO3): c.637A> C (p.Arg213=) single nucleotide variant Uncertain significance rs373366899 GRCh38 Chromosome 11, 124869599: 124869599
32 ROBO3 NM_022370.3(ROBO3): c.726G> C (p.Ala242=) single nucleotide variant Uncertain significance rs115272137 GRCh37 Chromosome 11, 124739924: 124739924
33 ROBO3 NM_022370.3(ROBO3): c.726G> C (p.Ala242=) single nucleotide variant Uncertain significance rs115272137 GRCh38 Chromosome 11, 124870028: 124870028
34 ROBO3 NM_022370.3(ROBO3): c.764T> C (p.Leu255Pro) single nucleotide variant Uncertain significance rs747047729 GRCh37 Chromosome 11, 124739962: 124739962
35 ROBO3 NM_022370.3(ROBO3): c.764T> C (p.Leu255Pro) single nucleotide variant Uncertain significance rs747047729 GRCh38 Chromosome 11, 124870066: 124870066
36 ROBO3 NM_022370.3(ROBO3): c.850G> A (p.Asp284Asn) single nucleotide variant Uncertain significance rs142090631 GRCh37 Chromosome 11, 124740144: 124740144
37 ROBO3 NM_022370.3(ROBO3): c.850G> A (p.Asp284Asn) single nucleotide variant Uncertain significance rs142090631 GRCh38 Chromosome 11, 124870248: 124870248
38 ROBO3 NM_022370.3(ROBO3): c.968C> T (p.Thr323Met) single nucleotide variant Uncertain significance rs151168595 GRCh37 Chromosome 11, 124740559: 124740559
39 ROBO3 NM_022370.3(ROBO3): c.968C> T (p.Thr323Met) single nucleotide variant Uncertain significance rs151168595 GRCh38 Chromosome 11, 124870663: 124870663
40 ROBO3 NM_022370.3(ROBO3): c.1104C> T (p.Cys368=) single nucleotide variant Benign rs35978862 GRCh37 Chromosome 11, 124740980: 124740980
41 ROBO3 NM_022370.3(ROBO3): c.1104C> T (p.Cys368=) single nucleotide variant Benign rs35978862 GRCh38 Chromosome 11, 124871084: 124871084
42 ROBO3 NM_022370.3(ROBO3): c.1247G> A (p.Arg416His) single nucleotide variant Benign rs3862618 GRCh37 Chromosome 11, 124742365: 124742365
43 ROBO3 NM_022370.3(ROBO3): c.1247G> A (p.Arg416His) single nucleotide variant Benign rs3862618 GRCh38 Chromosome 11, 124872469: 124872469
44 ROBO3 NM_022370.3(ROBO3): c.1515C> T (p.Thr505=) single nucleotide variant Uncertain significance rs769591533 GRCh37 Chromosome 11, 124742964: 124742964
45 ROBO3 NM_022370.3(ROBO3): c.1515C> T (p.Thr505=) single nucleotide variant Uncertain significance rs769591533 GRCh38 Chromosome 11, 124873068: 124873068
46 ROBO3 NM_022370.3(ROBO3): c.1542G> A (p.Met514Ile) single nucleotide variant Uncertain significance rs200197609 GRCh37 Chromosome 11, 124743211: 124743211
47 ROBO3 NM_022370.3(ROBO3): c.1542G> A (p.Met514Ile) single nucleotide variant Uncertain significance rs200197609 GRCh38 Chromosome 11, 124873315: 124873315
48 ROBO3 NM_022370.3(ROBO3): c.1720C> T (p.Leu574=) single nucleotide variant Uncertain significance rs192962871 GRCh37 Chromosome 11, 124743694: 124743694
49 ROBO3 NM_022370.3(ROBO3): c.1720C> T (p.Leu574=) single nucleotide variant Uncertain significance rs192962871 GRCh38 Chromosome 11, 124873798: 124873798
50 ROBO3 NM_022370.3(ROBO3): c.3091A> C (p.Thr1031Pro) single nucleotide variant Uncertain significance rs886047909 GRCh37 Chromosome 11, 124747937: 124747937

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

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

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

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