ORPHA:2744
Horizontal gaze palsy with progressive scoliosis
Synonyms: HGPPS · Progressive external ophthalmoplegia and scoliosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Horizontal gaze palsy with progressive scoliosis | HGPPS · Progressive external ophthalmoplegia and scoliosis |
| fr | Paralysie horizontale du regard avec scoliose progressive | HGPPS · Ophtalmoplégie externe progressive et scoliose |
| de | Horizontale Blicklähmung mit progredienter Skoliose | HGPPS · Progressive externe Ophthalmoplegie und Skoliose |
| es | Parálisis de la mirada horizontal con escoliosis progresiva | Oftalmoplejía externa progresiva y escoliosis · HGPPS |
| it | Paralisi dello sguardo orizzontale con scoliosi progressiva | HGPPS · Oftalmoplegia esterna progressiva e scoliosi |
| nl | Horizontale blikparese met progressieve scoliose | HGPPS · Horizontale blikverlamming met progressieve scoliose · Progressieve externe oftalmoplegie en scoliose |
| pt | Paralisia do olhar horizontal com escoliose progressiva | Oftalmoplegia horizontal com escoliose progressiva · Oftalmoplegia progressiva externa-escoliose |
| pl | Porażenie ruchów poziomych z postępującą skoliozą | Postępująca zewnętrzna oftalmoplegia i skolioza · HGPPS |
| cs | Progresivní externí oftalmoplegie se skoliózou | HGPPS · Vrozená obrna horizontálního pohledu s progresivní skoliózou |
| uk | Параліч горизонтального погляду з прогресуючим сколіозом | HGPPS · Прогресуюча зовнішня офтальмоплегія та сколіоз |
| zh | 水平凝视麻痹伴进行性脊柱侧凸 | 进行性眼外肌麻痹和脊柱侧凸 |
| tr | İlerleyici skolyozlu horizontal bakış felci | HGPPS · ilerleyici eksternal oftalmopleji ve skolyoz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607313 | E | validated | |
| OMIM | 617542 | BTNT | validated | |
| ICD-10 | H49.4 | NTBT | attributed | validated |
| ICD-11 | 9C83.00 | NTBT | index | validated |
| MONDO | 0011810 | E | validated | |
| UMLS | C1846496 | E | validated | |
| GARD | 12682 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:730696Genetic syndrome with a brainstem malformation as a major feature
rare genetic diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:729519Syndrome with a brainstem malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:50817Duane anomaly-myopathy-scoliosis syndrome moved to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DCC | Disease-causing germline mutation(s) in | Assessed | HGNC:2701 | ENSG00000187323 | 120470 | 18q21.2 | DCC netrin 1 receptor | 28250456[PMID] |
| ROBO3 | Disease-causing germline mutation(s) in | Assessed | HGNC:13433 | ENSG00000154134 | 608630 | 11q24.2 | roundabout guidance receptor 3 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007817 | Horizontal supranuclear gaze palsy | |
| HP:0002808 | Kyphosis | |
| HP:0002650 | Scoliosis | |
| Frequent (79-30%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0009921 | Duane anomaly | |
| HP:0001252 | Hypotonia | |
| HP:0000252 | Microcephaly | |
| HP:0003198 | Myopathy | |
| HP:0000639 | Nystagmus | |
| HP:0003508 | Proportionate short stature | |
| HP:0000470 | Short neck | |
| HP:0000486 | Strabismus | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2744
- This record as JSON: /data/d/2744.json