{"Name":"Horizontal gaze palsy with progressive scoliosis","DiseaseID__c":"GARD:0012682","id":12682,"encodedName":"horizontal-gaze-palsy-with-progressive-scoliosis","IsDeleted":false,"Disease_Name_Full__c":"Horizontal gaze palsy with progressive scoliosis","Xref_IDs__c":"702381007; C1846496; C564593; MEDGEN:339538; MONDO:0011810; OMIMPS:607313; ORPHA:2744","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011810","Disease_Description__c":"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.","GARD_Name__c":"Horizontal gaze palsy with progressive scoliosis","GARD_Synonym__c":"familial infantile scoliosis associated with bilateral paralysis of conjugate gaze; gaze palsy, familial horizontal, with progressive scoliosis; hgpps; hgpps - horizontal gaze palsy with progressive scoliosis; progressive external ophthalmoplegia and scoliosis","Curated_Disease_Description_Source__c":"GARD:0012682","Curated_Disease_Description__c":"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a disorder that affects the eyes and the spine. Individuals with this condition are unable to move their eyes side-to-side (horizontally) from birth, although the problem may not be diagnosed until later in infancy. As a result, affected individuals must track moving objects by turning their head instead of moving their eyes. Up-and-down (vertical) eye movements are typically normal. In people with HGPPS, an abnormal side-to-side curvature of the spine (scoliosis) develops between infancy and childhood. It tends to be moderate to severe and worsens over time. The abnormal spine position can be painful and can interfere with movement. In severe cases, it may impede breathing. It may require external support, such as bracing, and is often treated with surgery early in life. People with HGPPS have structural abnormalities along the midline of the brain that can only be seen with medical imaging. This imaging shows distinctive malformations that include underdevelopment of brain structures called the pons and cerebellar peduncles and a notch or cleft in the midline of the brain. While most people with HGPPS have a normal intellect, mild intellectual disabilities can occur.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:2744","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011810","ORPHANET_ID__c":"ORPHA:2744","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Parálisis de la mirada horizontal con escoliosis progresiva","Spanish_Description_Source__c":"ORPHA:2744","Spanish_Description__c":"La parálisis de la mirada horizontal con escoliosis progresiva (HGPPS) es una enfermedad congénita autosómica recesiva poco frecuente, que se presenta en niños y adolescentes, y que se caracteriza por una escoliosis progresiva con ausencia de movimientos oculares horizontales conjugados, asociados a un fallo en los tractos neuronales corticoespinal y somatosensorial que decusan en la médula.","Spanish_Disease_Name__c":"parálisis de la mirada horizontal con escoliosis progresiva","Spanish_GARD_Synonym__c":"hgpps; oftalmoplejía externa progresiva y escoliosis","Category_Linearization__c":"ORPHA:97966","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a disorder that affects the eyes and the spine. Individuals with this condition are unable to move their eyes side-to-side (horizontally) from birth, although the problem may not be diagnosed until later in infancy. As a result, affected individuals must track moving objects by turning their head instead of moving their eyes. Up-and-down (vertical) eye movements are typically normal. In people with HGPPS, an abnormal side-to-side curvature of the spine (scoliosis) develops between infancy and childhood. It tends to be moderate to severe and worsens over time. The abnormal spine position can be painful and can interfere with movement. In severe cases, it may impede breathing. It may require external support, such as bracing, and is often treated with surgery early in life. People with HGPPS have structural abnormalities along the midline of the brain that can only be seen with medical imaging. This imaging shows distinctive malformations that include underdevelopment of brain structures called the pons and cerebellar peduncles and a notch or cleft in the midline of the brain. While most people with HGPPS have a normal intellect, mild intellectual disabilities can occur.","Curated_Disease_Description_Source__c":"GARD:0012682","GARD_Synonym__c":"familial infantile scoliosis associated with bilateral paralysis of conjugate gaze; gaze palsy, familial horizontal, with progressive scoliosis; hgpps; hgpps - horizontal gaze palsy with progressive scoliosis; progressive external ophthalmoplegia and scoliosis","Name":"Horizontal gaze palsy with progressive scoliosis","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2744"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2744"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012682","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564593","Source__c":"MONDO:0011810","Xref__c":"C564593"},{"URL__c":"https://www.orpha.net/en/disease/detail/2744","Source__c":"C1846496; MONDO:0011810; ORPHA:2744","Xref__c":"ORPHA:2744"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702381007","Source__c":"C1846496; MONDO:0011810","Xref__c":"702381007"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS607313","Source__c":"MONDO:0011810","Xref__c":"OMIMPS:607313"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011810","Source__c":"GARD:0012682","Xref__c":"MONDO:0011810"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846496","Source__c":"C1846496","Xref__c":"C1846496"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=339538","Source__c":"C1846496","Xref__c":"MEDGEN:339538"},{"URL__c":"https://medlineplus.gov/genetics/condition/horizontal-gaze-palsy-with-progressive-scoliosis","Source__c":"GARD:0012682","Xref__c":"https://medlineplus.gov/genetics/condition/horizontal-gaze-palsy-with-progressive-scoliosis"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DCC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dcc","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ROBO3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/robo3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2744","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2744","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2744","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2744","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2744","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2744","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2744","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009921","HPO_Synonym__c":"Limited eye motility from Duane anomaly; Limited eye movement from Duane anomaly","HPO_Name__c":"Duane anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2744","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2744","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2744","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2744","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007817","HPO_Name__c":"Horizontal supranuclear gaze palsy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2744","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2744","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2744","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2744","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A kind of short stature in which different regions of the body are shortened to a comparable extent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003508","HPO_Synonym__c":"Proportionate small stature; Short stature, proportionate","HPO_Name__c":"Proportionate short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2744","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Orthopedics","Neuro-Ophthalmology","Pediatrics"]},"synonyms":["familial infantile scoliosis associated with bilateral paralysis of conjugate gaze"," gaze palsy, familial horizontal, with progressive scoliosis"," hgpps"," hgpps - horizontal gaze palsy with progressive scoliosis"," progressive external ophthalmoplegia and scoliosis"]}