{"Name":"Congenital disorder of glycosylation, type IIq","DiseaseID__c":"GARD:0017720","id":17720,"encodedName":"congenital-disorder-of-glycosylation-type-iiq","IsDeleted":false,"Disease_Name_Full__c":"Congenital disorder of glycosylation, type IIq","Xref_IDs__c":"C4479353; DOID:0070269; MEDGEN:1390458; MONDO:0054559; OMIM:617395; ORPHA:435934","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:435934","Disease_Description__c":"A rare, congenital disorder of glycosylation caused by mutations in the <i>COG2</i> gene and characterized by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.","GARD_Name__c":"Congenital disorder of glycosylation, type IIq","GARD_Synonym__c":"cdg iiq; cog2-cdg; cog2-cdg - component of oligomeric golgi complex 2 - congenital disorder of glycosylation; cog2-related congenital disorder of glycosylation; component of oligomeric golgi complex 2-related congenital disorder of glycosylation","Curated_Disease_Description_Source__c":"ORPHA:435934","Curated_Disease_Description__c":"A rare, congenital disorder of glycosylation caused by mutations in the COG2 gene and characterized by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:435934","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0054559","ORPHANET_ID__c":"ORPHA:435934","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Cog2-cdg","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"cog2-cdg","Spanish_GARD_Synonym__c":"trastorno congénito de la glicosilación asociado a cog2","Category_Linearization__c":"ORPHA:68367","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":"A rare, congenital disorder of glycosylation caused by mutations in the COG2 gene and characterized by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.","Curated_Disease_Description_Source__c":"ORPHA:435934","GARD_Synonym__c":"cdg iiq; cog2-cdg; cog2-cdg - component of oligomeric golgi complex 2 - congenital disorder of glycosylation; cog2-related congenital disorder of glycosylation; component of oligomeric golgi complex 2-related congenital disorder of glycosylation","Name":"Congenital disorder of glycosylation, type IIq","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CDG CARE","Website__c":"https://cdgcare.org/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:435934"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1390458","Source__c":"C4479353","Xref__c":"MEDGEN:1390458"},{"URL__c":"https://www.omim.org/entry/617395","Source__c":"C4479353; MONDO:0054559; ORPHA:435934","Xref__c":"OMIM:617395"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4479353","Source__c":"C4479353","Xref__c":"C4479353"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070269","Source__c":"MONDO:0054559","Xref__c":"DOID:0070269"},{"URL__c":"https://www.orpha.net/en/disease/detail/435934","Source__c":"C4479353; MONDO:0054559; ORPHA:435934","Xref__c":"ORPHA:435934"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0054559","Source__c":"GARD:0017720","Xref__c":"MONDO:0054559"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197753005","Source__c":"C4479353","Xref__c":"1197753005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COG2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:435934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced concentration of copper in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011967","HPO_Synonym__c":"Copper deficiency; Hypocupremia; Reduced serum copper","HPO_Name__c":"Decreased circulating copper concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:435934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diffuse unlocalised atrophy affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002506","HPO_Synonym__c":"Cerebral atrophy, diffuse","HPO_Name__c":"Diffuse cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased concentration of ceruloplasmin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010837","HPO_Synonym__c":"Decreased serum ceruloplasmin; Decreased serum ceruloplasminA; Hypoceruloplasminemia","HPO_Name__c":"Decreased circulating ceruloplasmin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:435934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Spastic paralysis affecting all four limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002510","HPO_Synonym__c":"Spastic quadriplegia","HPO_Name__c":"Spastic tetraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of previously present mental and motor abilities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002361","HPO_Synonym__c":"Psychomotor degeneration","HPO_Name__c":"Psychomotor deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased size of the pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012506","HPO_Name__c":"Small pituitary gland","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010818","HPO_Synonym__c":"Generalised hypertonic seizure; Generalized hypertonic seizure; Generalized tonic seizures","HPO_Name__c":"Generalized tonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability of the liver to perform its functions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001410","HPO_Synonym__c":"Decreased liver function; Liver dysfunction","HPO_Name__c":"Decreased liver function","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference which falls below 2 standard deviations below the mean for age and sex because of insufficient head growth after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005484","HPO_Synonym__c":"Acquired microcephaly; Deceleration of head growth; Microcephaly, acquired; Microcephaly, postnatal; Postnatal deceleration of head circumference; Postnatal microcephaly","HPO_Name__c":"Secondary microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003256","HPO_Synonym__c":"Coagulopathy","HPO_Name__c":"Abnormality of the coagulation cascade","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["cdg iiq"," cog2-cdg"," cog2-cdg - component of oligomeric golgi complex 2 - congenital disorder of glycosylation"," cog2-related congenital disorder of glycosylation"," component of oligomeric golgi complex 2-related congenital disorder of glycosylation"]}