{"Name":"Pacman dysplasia","DiseaseID__c":"GARD:0004189","id":4189,"encodedName":"pacman-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Pacman dysplasia","Xref_IDs__c":"722127006; C1833676; C538095; MEDGEN:331566; MONDO:0008175; OMIM:167220; ORPHA:1952","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008175","Disease_Description__c":"A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period.","GARD_Name__c":"Pacman dysplasia","GARD_Synonym__c":"epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome; epiphyseal stippling with osteoclastic hyperplasia; epiphyseal stippling with osteoclastic hyperplasia syndrome; epiphyseal stippling-osteoclastic hyperplasia syndrome","Curated_Disease_Description_Source__c":"MONDO:0008175","Curated_Disease_Description__c":"A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period.","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:1952","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008175","ORPHANET_ID__c":"ORPHA:1952","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de epífisis punteada-hiperplasia osteoclástica","Spanish_Description_Source__c":"ORPHA:1952","Spanish_Description__c":"Es una displasia ósea primaria poco frecuente caracterizada por un punteado extenso de las epífisis, tarso, vértebras y, en ocasiones, del metacarpiano y/o las falanges, osteopenia generalizada grave, hendidura vertebral, platispondilia, incurvación y acortamiento de los huesos largos y recubrimiento perióstico variable. El análisis bioquímico de las enzimas lisosomales revela una actividad normal. Los estudios histopatológicos muestran numerosos osteoclastos gigantes multinucleados que recubren las lagunas de Howship, lo que es compatible con un aumento de la resorción ósea. La afección se manifiesta prenatalmente y presumiblemente es letal en el período perinatal.","Spanish_Disease_Name__c":"síndrome de epífisis punteada-hiperplasia osteoclástica","Spanish_GARD_Synonym__c":"displasia de pacman","Category_Linearization__c":"ORPHA:93419","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 primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period.","Curated_Disease_Description_Source__c":"MONDO:0008175","GARD_Synonym__c":"epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome; epiphyseal stippling with osteoclastic hyperplasia; epiphyseal stippling with osteoclastic hyperplasia syndrome; epiphyseal stippling-osteoclastic hyperplasia syndrome","Name":"Pacman dysplasia","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":"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":"Orthopedics","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:1952"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1952"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722127006","Source__c":"C1833676; MONDO:0008175","Xref__c":"722127006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833676","Source__c":"C1833676","Xref__c":"C1833676"},{"URL__c":"https://www.orpha.net/en/disease/detail/1952","Source__c":"C1833676; MONDO:0008175; ORPHA:1952","Xref__c":"ORPHA:1952"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331566","Source__c":"C1833676","Xref__c":"MEDGEN:331566"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538095","Source__c":"MONDO:0008175","Xref__c":"C538095"},{"URL__c":"https://www.omim.org/entry/167220","Source__c":"C1833676; MONDO:0008175; ORPHA:1952","Xref__c":"OMIM:167220"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008175","Source__c":"GARD:0004189","Xref__c":"MONDO:0008175"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1952","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000601","HPO_Synonym__c":"Abnormally close eyes; Closely spaced eyes; Decreased distance between eye sockets; Decreased distance between eyes; Decreased interpupillary distance; Decreased orbital separation; Ocular hypotelorism","HPO_Name__c":"Hypotelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1952","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1952","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011849","HPO_Name__c":"Abnormal bone ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1952","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002683","HPO_Synonym__c":"Abnormality of calvarium; Abnormality of cranial vault; Abnormality of the calvaria; Abnormality of the shape of calvarium; Abnormality of the skull cap; Abnormality of the skullcap","HPO_Name__c":"Abnormal calvaria morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1952","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of a long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006487","HPO_Synonym__c":"Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones","HPO_Name__c":"Bowing of the long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1952","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Frontal schisis (cleft or cleavage) of vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003417","HPO_Synonym__c":"coronal cleft of vertebrae; Coronal clefts; Coronal vertebral clefts; Vertebral coronal clefts","HPO_Name__c":"Coronal cleft vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1952","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100670","HPO_Synonym__c":"Coarse trabeculation at metaphyses; Rough bone trabeculation; Rough trabeculation of bone","HPO_Name__c":"Coarse metaphyseal trabecularization","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1952","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002970","HPO_Synonym__c":"Genu vara; Genua vara; Outward bow-leggedness; Outward bowing at knees","HPO_Name__c":"Genu varum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1952","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010655","HPO_Synonym__c":"Epiphyseal punctate calcifications; Speckled calcifications in end part of bone; Stippled epiphyses; Stippling of the epiphyses","HPO_Name__c":"Epiphyseal stippling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1952","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005716","HPO_Synonym__c":"Lethal dwarfism identifiable at birth","HPO_Name__c":"Lethal skeletal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome"," epiphyseal stippling with osteoclastic hyperplasia"," epiphyseal stippling with osteoclastic hyperplasia syndrome"," epiphyseal stippling-osteoclastic hyperplasia syndrome"]}