{"Name":"Glycogen storage disease IXd","DiseaseID__c":"GARD:0003858","id":3858,"encodedName":"glycogen-storage-disease-ixd","IsDeleted":false,"Disease_Name_Full__c":"Glycogen storage disease IXd","Xref_IDs__c":"C1845151; C564485; DOID:0111040; MEDGEN:335112; MONDO:0010362; OMIM:300559; ORPHA:715","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010362","Disease_Description__c":"A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.","GARD_Name__c":"Glycogen storage disease IXd","GARD_Synonym__c":"glycogen storage disease caused by mutation in phka1; glycogen storage disease due to muscle phosphorylase kinase deficiency; glycogen storage disease type 9d; glycogen storage disease type 9e; glycogen storage disease type ixd; glycogen storage disease type ixe; glycogenosis due to muscle phosphorylase kinase deficiency; glycogenosis type 9d; glycogenosis type 9e; glycogenosis type ixd; glycogenosis type ixe; gsd due to muscle phosphorylase kinase deficiency; gsd ixd; gsd type 9d; gsd type 9e; gsd type ixd; gsd type ixe; gsd9d; muscle glycogenosis, x-linked recessive; muscle phosphorylase kinase deficiency; phka1 glycogen storage disease; phka1-related glycogen storage disease type ix; phka1-related phosphorylase kinase deficiency","Curated_Disease_Description_Source__c":"MONDO:0010362","Curated_Disease_Description__c":"A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:715","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010362","ORPHANET_ID__c":"ORPHA:715","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de almacenamiento de glucógeno por deficiencia de fosforilasa quinasa muscular","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de almacenamiento de glucógeno por deficiencia de fosforilasa quinasa muscular","Spanish_GARD_Synonym__c":"enfermedad de almacenamiento de glucógeno tipo 9d; enfermedad de almacenamiento de glucógeno tipo 9e; enfermedad de almacenamiento de glucógeno tipo ixd; enfermedad de almacenamiento de glucógeno tipo ixe; glucogenosis por deficiencia de fosforilasa quinasa muscular; glucogenosis tipo 9d; glucogenosis tipo 9e; glucogenosis tipo ixd; glucogenosis tipo ixe; gsd por deficiencia de fosforilasa quinasa muscular; gsd tipo 9d; gsd tipo 9e; gsd tipo ixd; gsd tipo ixe","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 benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.","Curated_Disease_Description_Source__c":"MONDO:0010362","GARD_Synonym__c":"glycogen storage disease caused by mutation in phka1; glycogen storage disease due to muscle phosphorylase kinase deficiency; glycogen storage disease type 9d; glycogen storage disease type 9e; glycogen storage disease type ixd; glycogen storage disease type ixe; glycogenosis due to muscle phosphorylase kinase deficiency; glycogenosis type 9d; glycogenosis type 9e; glycogenosis type ixd; glycogenosis type ixe; gsd due to muscle phosphorylase kinase deficiency; gsd ixd; gsd type 9d; gsd type 9e; gsd type ixd; gsd type ixe; gsd9d; muscle glycogenosis, x-linked recessive; muscle phosphorylase kinase deficiency; phka1 glycogen storage disease; phka1-related glycogen storage disease type ix; phka1-related phosphorylase kinase deficiency","Name":"Glycogen storage disease IXd","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Association for Glycogen Storage Disease UK","Website__c":"https://www.agsd.org.uk/"},{"Account_Name__c":"Association for Glycogen Storage Disease","Website__c":"https://www.agsdus.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":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:715"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:715"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003858","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK55061","Source__c":"Gene Review","Xref__c":"NBK55061"},{"URL__c":"https://www.omim.org/entry/300559","Source__c":"C1845151; MONDO:0010362; ORPHA:715","Xref__c":"OMIM:300559"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335112","Source__c":"C1845151","Xref__c":"MEDGEN:335112"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1845151","Source__c":"C1845151","Xref__c":"C1845151"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111040","Source__c":"MONDO:0010362","Xref__c":"DOID:0111040"},{"URL__c":"https://www.orpha.net/en/disease/detail/715","Source__c":"C1845151; MONDO:0010362; ORPHA:715","Xref__c":"ORPHA:715"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564485","Source__c":"MONDO:0010362","Xref__c":"C564485"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010362","Source__c":"GARD:0003858","Xref__c":"MONDO:0010362"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=819953000","Source__c":"C1845151","Xref__c":"819953000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PHKA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/phka1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:715","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability to climb stairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003551","HPO_Synonym__c":"Difficulty walking up stairs","HPO_Name__c":"Difficulty climbing stairs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:715","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:715","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Activity of the enzyme muscle phosphorylase kinase (PhK) in muscle tissue below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000198","HPO_Name__c":"Reduced muscle phosphorylase kinase activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:715","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:715","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003391","HPO_Synonym__c":"Gower sign; Positive Gower sign; Positive Gowers sign","HPO_Name__c":"Gowers sign","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:715","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003323","HPO_Synonym__c":"Muscle weakness, progressive; Progressive muscular weakness","HPO_Name__c":"Progressive muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:715","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased amount of glycogen in muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009051","HPO_Name__c":"Increased muscle glycogen content","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:715","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:715","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003458","HPO_Synonym__c":"EMG: myopathic changes; EMG: myopathy; Myopathic electromyogram","HPO_Name__c":"EMG: myopathic abnormalities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:715","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of myoglobin in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002913","HPO_Name__c":"Myoglobinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:715","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003546","HPO_Synonym__c":"Decreased ability to exercise; Inability to exercise; Low exercise endurance; Poor exercise tolerance","HPO_Name__c":"Exercise intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:715","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:715","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:715","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100595","HPO_Name__c":"Camptocormia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:715","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003394","HPO_Synonym__c":"Muscle cramps; Muscle spasms","HPO_Name__c":"Muscle spasm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:715","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["glycogen storage disease caused by mutation in phka1"," glycogen storage disease due to muscle phosphorylase kinase deficiency"," glycogen storage disease type 9d"," glycogen storage disease type 9e"," glycogen storage disease type ixd"," glycogen storage disease type ixe"," glycogenosis due to muscle phosphorylase kinase deficiency"," glycogenosis type 9d"," glycogenosis type 9e"," glycogenosis type ixd"," glycogenosis type ixe"," gsd due to muscle phosphorylase kinase deficiency"," gsd ixd"," gsd type 9d"," gsd type 9e"," gsd type ixd"," gsd type ixe"," gsd9d"," muscle glycogenosis, x-linked recessive"," muscle phosphorylase kinase deficiency"," phka1 glycogen storage disease"," phka1-related glycogen storage disease type ix"," phka1-related phosphorylase kinase deficiency"]}