Horizontal gaze palsy with progressive scoliosis

General Information (adopted from Orphanet):

Synonyms, Signs: HGPPS OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS, INCLUDED
HGPPS
Progressive external ophthalmoplegia and scoliosis
Number of Symptoms 16
OrphanetNr: 2744
OMIM Id: 607313
ICD-10: H49.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with a central nervous system malformation as major feature
 -Rare genetic disease
Other syndrome with a central nervous system malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Syndrome with a symptomatic strabismus
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
2
(HPO:0007650) Progressive ophthalmoplegia 2 / 7739
3
(HPO:0007817) Horizontal supranuclear gaze palsy 3 / 7739
4
(HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
5
(HPO:0000597) Ophthalmoparesis Very frequent [Orphanet] 71 / 7739
6
(HPO:0000590) Progressive external ophthalmoplegia 23 / 7739
7
(HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
8
(HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
9
(HPO:0002944) Thoracolumbar scoliosis 13 / 7739
10
(HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
11
(HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
12
(OMIM) Scoliosis, thoracolumbar, severe, progressive 1 / 7739
13
(HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
14
(OMIM) Gaze palsy, horizontal 1 / 7739
15
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
(HPO:0003577) Congenital onset 133 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dretakis and Kondoyannis (1974) described 5 children in 2 families who had scoliosis associated with progressive external ophthalmoplegia. One of the families had previously been reported by Dretakis (1970). In a Chinese family living in Jamaica, Crisfield (1974) ...
Molecular genetics OMIM In 10 HGPPS index patients, Jen et al. (2004) identified 10 different mutations (608630.0001-608630.0010) in the ROBO3 gene. Each of the mutations was found in homozygosity and included 1 nonsense, 1 splice site, 2 frameshift, and 6 missense ...