{"Name":"X-linked hydrocephalus syndrome","DiseaseID__c":"GARD:0000434","id":434,"encodedName":"x-linked-hydrocephalus-syndrome","IsDeleted":false,"Disease_Name_Full__c":"X-linked hydrocephalus syndrome","Xref_IDs__c":"71779008; C0265216; C536078; MEDGEN:75552; MONDO:0010611; OMIM:307000; ORPHA:2182","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010611","Disease_Description__c":"A congenital, X-linked, clinical subtype of L1 syndrome characterized by severe hydrocephalus often of prenatal onset, adducted thumbs, spasticity (mostly evidenced by brisk tendon reflexes and extensor plantar responses) and moderate to severe intellectual disability. This subtype represents the severe end of the L1 syndrome spectrum and is associated with poor prognosis.","GARD_Name__c":"X-linked hydrocephalus syndrome","GARD_Synonym__c":"aqueductal stenosis, x-linked; bickers-adams syndrome; hsas; hycx; hydrocephalus due to aqueductal stenosis, x-linked recessive; hydrocephalus with congenital idiopathic intestinal pseudoobstruction, x-linked recessive; hydrocephalus with hirschsprung disease, x-linked recessive; hydrocephalus with stenosis of the aqueduct of sylvius; hydrocephalus, congenital, x-linked; x-linked acqueductal stenosis; x-linked hsas; x-linked hydrocephalus; x-linked hydrocephalus with stenosis of aqueduct of sylvius; x-linked hydrocephalus with stenosis of the aqueduct of sylvius","Curated_Disease_Description_Source__c":"GARD:0000434","Curated_Disease_Description__c":"Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition include severe intellectual disability and spasticity. HSAS, like all forms of L1 syndrome, is caused by changes in the L1CAM gene and is inherited in an X-linked recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2182","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010611","ORPHANET_ID__c":"ORPHA:2182","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hidrocefalia con estenosis del acueducto de silvio","Spanish_Description_Source__c":"ORPHA:2182","Spanish_Description__c":"La hidrocefalia con estenosis del acueducto de Silvio (HSAS) es un término históricamente utilizado para describir un fenotipo considerado en la actualidad como parte del espectro clínico del síndrome L1 ligado al X (síndrome L1, consulte este término). La HSAS se caracteriza por una hidrocefalia grave en la mayoría de los casos de aparición prenatal, signos de hipertensión intracraneal, pulgares en abducción, espasticidad, y déficit intelectual grave. La HSAS representa el extremo grave del espectro y está asociado con un mal pronóstico.","Spanish_Disease_Name__c":"hidrocefalia con estenosis del acueducto de silvio","Spanish_GARD_Synonym__c":"estenosis del acueducto ligada al cromosoma x; hidrocefalia ligada al cromosoma x; hidrocefalia ligada al cromosoma x con estenosis del acueducto de silvio; hsas; hsas ligada al cromosoma x; síndrome de bickers-adams","Category_Linearization__c":"ORPHA:93890","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":"Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition include severe intellectual disability and spasticity. HSAS, like all forms of L1 syndrome, is caused by changes in the L1CAM gene and is inherited in an X-linked recessive manner.","Curated_Disease_Description_Source__c":"GARD:0000434","GARD_Synonym__c":"aqueductal stenosis, x-linked; bickers-adams syndrome; hsas; hycx; hydrocephalus due to aqueductal stenosis, x-linked recessive; hydrocephalus with congenital idiopathic intestinal pseudoobstruction, x-linked recessive; hydrocephalus with hirschsprung disease, x-linked recessive; hydrocephalus with stenosis of the aqueduct of sylvius; hydrocephalus, congenital, x-linked; x-linked acqueductal stenosis; x-linked hsas; x-linked hydrocephalus; x-linked hydrocephalus with stenosis of aqueduct of sylvius; x-linked hydrocephalus with stenosis of the aqueduct of sylvius","Name":"X-linked hydrocephalus syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Hydrocephalus Association","Website__c":"https://www.hydroassoc.org/"},{"Account_Name__c":"National Hydrocephalus Foundation","Website__c":"http://nhfonline.org"}],"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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2182"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2182"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265216"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000434","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1484","Source__c":"Gene Review","Xref__c":"NBK1484"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75552","Source__c":"C0265216","Xref__c":"MEDGEN:75552"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265216","Source__c":"C0265216","Xref__c":"C0265216"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=71779008","Source__c":"C0265216; MONDO:0010611","Xref__c":"71779008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536078","Source__c":"MONDO:0010611","Xref__c":"C536078"},{"URL__c":"https://www.omim.org/entry/307000","Source__c":"C0265216; MONDO:0010611; ORPHA:2182","Xref__c":"OMIM:307000"},{"URL__c":"https://www.orpha.net/en/disease/detail/2182","Source__c":"C0265216; MONDO:0010611; ORPHA:2182","Xref__c":"ORPHA:2182"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010611","Source__c":"GARD:0000434","Xref__c":"MONDO:0010611"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"L1CAM","GHR_URL__c":"https://medlineplus.gov/genetics/gene/l1cam","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2182","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001181","HPO_Synonym__c":"Adducted thumbs; Inward turned thumb; Thumb-in-palm deformity; Thumb-in-palm pattern","HPO_Name__c":"Adducted thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2182","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:2182","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001331","HPO_Synonym__c":"Absence of septum pellucidum; Absence of the septum pellucidum; Agenesis of the septum pellucidum; Missing septum pellucidum","HPO_Name__c":"Absent septum pellucidum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2182","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2182","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001274","HPO_Synonym__c":"Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum","HPO_Name__c":"Agenesis of corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2182","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2182","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002516","HPO_Synonym__c":"Intracranial hypertension; Intracranial pressure elevation; Rise in pressure inside skull","HPO_Name__c":"Increased intracranial pressure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2182","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001360","HPO_Synonym__c":"Single brain ventricle","HPO_Name__c":"Holoprosencephaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2182","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002410","HPO_Synonym__c":"Aqueduct of Sylvius stenosis; Aqueduct stenosis; Narrowing of aqueduct of Sylvius","HPO_Name__c":"Aqueductal stenosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2182","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2182","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:2182","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004374","HPO_Synonym__c":"Paralysis or weakness of one side of body","HPO_Name__c":"Hemiplegia/hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2182","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2182","HPO_Frequency__c":"Occasional (5-29%)","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:2182","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010864","HPO_Synonym__c":"Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation","HPO_Name__c":"Severe intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["aqueductal stenosis, x-linked"," bickers-adams syndrome"," hsas"," hycx"," hydrocephalus due to aqueductal stenosis, x-linked recessive"," hydrocephalus with congenital idiopathic intestinal pseudoobstruction, x-linked recessive"," hydrocephalus with hirschsprung disease, x-linked recessive"," hydrocephalus with stenosis of the aqueduct of sylvius"," hydrocephalus, congenital, x-linked"," x-linked acqueductal stenosis"," x-linked hsas"," x-linked hydrocephalus"," x-linked hydrocephalus with stenosis of aqueduct of sylvius"," x-linked hydrocephalus with stenosis of the aqueduct of sylvius"]}