{"Name":"Pettigrew syndrome","DiseaseID__c":"GARD:0008520","id":8520,"encodedName":"pettigrew-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Pettigrew syndrome","Xref_IDs__c":"719139003; C0796254; C124839; DOID:0060800; MEDGEN:162924; MONDO:0010574; OMIM:304340; ORPHA:1568","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010574","Disease_Description__c":"A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.","GARD_Name__c":"Pettigrew syndrome","GARD_Synonym__c":"intellectual disability, x-linked syndromic 5; mrx59; mrxs21; pettigrew syndrome, x-linked recessive; pgs; syndromic x-linked intellectual disability 21; syndromic x-linked intellectual disability 5; syndromic x-linked intellectual disability fried type; syndromic x-linked intellectual disability type 5; x-linked dandy-walker malformation with intellectual disability, basal ganglia disease and seizure syndrome; x-linked intellectual disability 59; x-linked intellectual disability-dandy-walker malformation-basal ganglia disease-seizures syndrome; x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome; x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome; x-linked metal retardation with dandy-walker malformation, basal ganglia disease, and seizures","Curated_Disease_Description_Source__c":"ORPHA:1568","Curated_Disease_Description__c":"X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome also known as X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1568","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010574","ORPHANET_ID__c":"ORPHA:1568; ORPHA:85329","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de discapacidad intelectual-malformación de dandy-walker-enfermedad de los ganglios basales-crisis ligado al cromosoma x","Spanish_Description_Source__c":"ORPHA:1568","Spanish_Description__c":"Es una malformación poco frecuente del sistema nervioso central caracterizada por déficit intelectual grave, hipotonía precoz con progresión a espasticidad y contracturas, coreoatetosis, crisis epilépticas, dismorfia facial (cara alargada con frente prominente) y anomalías en la neuroimagen como la malformación de Dandy-Walker y deposición de hierro.","Spanish_Disease_Name__c":"síndrome de discapacidad intelectual-malformación de dandy-walker-enfermedad de los ganglios basales-crisis ligado al cromosoma x","Spanish_GARD_Synonym__c":"síndrome de pettigrew","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":"X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome also known as X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.","Curated_Disease_Description_Source__c":"ORPHA:1568","GARD_Synonym__c":"intellectual disability, x-linked syndromic 5; mrx59; mrxs21; pettigrew syndrome, x-linked recessive; pgs; syndromic x-linked intellectual disability 21; syndromic x-linked intellectual disability 5; syndromic x-linked intellectual disability fried type; syndromic x-linked intellectual disability type 5; x-linked dandy-walker malformation with intellectual disability, basal ganglia disease and seizure syndrome; x-linked intellectual disability 59; x-linked intellectual disability-dandy-walker malformation-basal ganglia disease-seizures syndrome; x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome; x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome; x-linked metal retardation with dandy-walker malformation, basal ganglia disease, and seizures","Name":"Pettigrew syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dandy-Walker Alliance, Inc.","Website__c":"https://dandy-walker.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":"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":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"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":"Antenatal","Provided_By__c":"ORPHA:1568"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1568"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0796254"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008520","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060800","Source__c":"MONDO:0010574","Xref__c":"DOID:0060800"},{"URL__c":"https://www.orpha.net/en/disease/detail/1568","Source__c":"C0796254; MONDO:0010574; ORPHA:1568","Xref__c":"ORPHA:1568"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C124839","Source__c":"C0796254; MONDO:0010574","Xref__c":"C124839"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=162924","Source__c":"C0796254","Xref__c":"MEDGEN:162924"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719139003","Source__c":"C0796254; MONDO:0010574","Xref__c":"719139003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0796254","Source__c":"C0796254","Xref__c":"C0796254"},{"URL__c":"https://www.omim.org/entry/304340","Source__c":"C0796254; MONDO:0010574","Xref__c":"OMIM:304340"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010574","Source__c":"GARD:0008520","Xref__c":"MONDO:0010574"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AP1S2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1568","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1568","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1568","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1568","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1568","HPO_Frequency__c":"Very frequent (80-99%)","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:1568","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007360","HPO_Synonym__c":"Absent/small cerebellum; Absent/underdeveloped cerebellum; Atrophy/Degeneration affecting the cerebellum; Atrophy/Hypoplasia of the cerebellum; Cerebellar hypoplasia/atrophy","HPO_Name__c":"Aplasia/Hypoplasia of the cerebellum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1568","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["intellectual disability, x-linked syndromic 5"," mrx59"," mrxs21"," pettigrew syndrome, x-linked recessive"," pgs"," syndromic x-linked intellectual disability 21"," syndromic x-linked intellectual disability 5"," syndromic x-linked intellectual disability fried type"," syndromic x-linked intellectual disability type 5"," x-linked dandy-walker malformation with intellectual disability, basal ganglia disease and seizure syndrome"," x-linked intellectual disability 59"," x-linked intellectual disability-dandy-walker malformation-basal ganglia disease-seizures syndrome"," x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome"," x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome"," x-linked metal retardation with dandy-walker malformation, basal ganglia disease, and seizures"]}