{"Name":"Human HOXA1 syndromes","DiseaseID__c":"GARD:0008333","id":8333,"encodedName":"human-hoxa1-syndromes","IsDeleted":false,"Disease_Name_Full__c":"Human HOXA1 syndromes","Xref_IDs__c":"720518006; C1832215; DOID:0050682; MEDGEN:330410; MONDO:0011099; OMIM:601536; ORPHA:69739","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011099","Disease_Description__c":"A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.","GARD_Name__c":"Human HOXA1 syndromes","GARD_Synonym__c":"abds; absd; athabascan brainstem dysgenesis syndrome; athabaskan brainstem dysgenesis syndrome; navajo brainstem syndrome","Curated_Disease_Description_Source__c":"GARD:0008333","Curated_Disease_Description__c":"Athabaskan brainstem dysgenesis syndrome (Human HOXA1 Syndromes) are very rare disorders present at birth mainly affecting the development of the ears, eyes, and cardiovascular system. The main symptoms include inability to move the eyes to the sides (horizontal gaze paralysis), deafness, and birth defects involving blood flow in and out of the heart. Athabaskan brainstem dysgenesis syndrome has been described in Native American populations (primarily the Navajo and Apache Indians) and in a few Saudi Arabian and Turkish families. Symptoms may vary by population. Athabaskan brainstem dysgenesis syndrome is caused by genetic changes (DNA variants) in the HOXA1 gene and inherited in an autosomal recessive pattern. Diagnosis is made based on the symptoms and confirmed by genetic testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:69739","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011099","ORPHANET_ID__c":"ORPHA:69739","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome disgenésico del tronco encefálico de athabaskan","Spanish_Description_Source__c":"ORPHA:69739","Spanish_Description__c":"Es un trastorno neurológico, de origen genético y poco frecuente, caracterizado por parálisis de la mirada horizontal, sordera neurosensorial, hipoventilación central, retraso psicomotor y discapacidad intelectual, descrito en descendientes de los indios americanos del pueblo atabascano. Adicionalmente se puede observar disfunción de la deglución, parálisis de las cuerdas vocales, paresia facial, crisis epilépticas, anomalías de la arteria carótida interna y del tracto de salida cardíaco. No se han asociado rasgos faciales dismórficos.","Spanish_Disease_Name__c":"síndrome disgenésico del tronco encefálico de athabaskan","Spanish_GARD_Synonym__c":"absd; síndrome troncoencefálico navajo","Category_Linearization__c":"ORPHA:98006","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":"Athabaskan brainstem dysgenesis syndrome (Human HOXA1 Syndromes) are very rare disorders present at birth mainly affecting the development of the ears, eyes, and cardiovascular system. The main symptoms include inability to move the eyes to the sides (horizontal gaze paralysis), deafness, and birth defects involving blood flow in and out of the heart. Athabaskan brainstem dysgenesis syndrome has been described in Native American populations (primarily the Navajo and Apache Indians) and in a few Saudi Arabian and Turkish families. Symptoms may vary by population. Athabaskan brainstem dysgenesis syndrome is caused by genetic changes (DNA variants) in the HOXA1 gene and inherited in an autosomal recessive pattern. Diagnosis is made based on the symptoms and confirmed by genetic testing.","Curated_Disease_Description_Source__c":"GARD:0008333","GARD_Synonym__c":"abds; absd; athabascan brainstem dysgenesis syndrome; athabaskan brainstem dysgenesis syndrome; navajo brainstem syndrome","Name":"Human HOXA1 syndromes","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:69739"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:69739"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1832215"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008333","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720518006","Source__c":"C1832215; MONDO:0011099","Xref__c":"720518006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050682","Source__c":"MONDO:0011099","Xref__c":"DOID:0050682"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832215","Source__c":"C1832215","Xref__c":"C1832215"},{"URL__c":"https://www.orpha.net/en/disease/detail/69739","Source__c":"C1832215; MONDO:0011099; ORPHA:69739","Xref__c":"ORPHA:69739"},{"URL__c":"https://www.omim.org/entry/601536","Source__c":"C1832215; MONDO:0011099; ORPHA:69739","Xref__c":"OMIM:601536"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=330410","Source__c":"C1832215","Xref__c":"MEDGEN:330410"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011099","Source__c":"GARD:0008333","Xref__c":"MONDO:0011099"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK609107","Source__c":"Gene Review","Xref__c":"NBK609107"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HOXA1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601536","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:601536","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002194","HPO_Synonym__c":"Delayed attainment of gross motor milestones; Delayed attainment of gross motor skills; Delayed development of gross motor milestones; Delayed development of gross motor skills; Delayed gross motor milestones; Delayed gross motor skills; Delayed motor skills; Developmental delay, gross motor; Gross motor delay; Limited gross motor development; Limited gross motor skills","HPO_Name__c":"Delayed gross motor development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601536","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":"OMIM:601536","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":"OMIM:601536","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007110","HPO_Name__c":"Central hypoventilation","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601536","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005290","HPO_Synonym__c":"Decreased size of internal carotid artery; Small internal carotid artery","HPO_Name__c":"Internal carotid artery hypoplasia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601536","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Otolaryngology","Pediatrics"]},"synonyms":["abds"," absd"," athabascan brainstem dysgenesis syndrome"," athabaskan brainstem dysgenesis syndrome"," navajo brainstem syndrome"]}