{"Name":"Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome","DiseaseID__c":"GARD:0016670","id":16670,"encodedName":"permanent-neonatal-diabetes-mellitus-pancreatic-and-cerebellar-agenesis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome","Xref_IDs__c":"C1836780; C563796; MEDGEN:332288; MONDO:0012192; OMIM:609069; ORPHA:65288","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012192","Disease_Description__c":"A rare neurologic disease characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period.","GARD_Name__c":"Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome","GARD_Synonym__c":"pancreatic and cerebellar agenesis","Curated_Disease_Description_Source__c":"ORPHA:65288","Curated_Disease_Description__c":"Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:65288","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012192","ORPHANET_ID__c":"ORPHA:65288","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de diabetes mellitus neonatal permanente-agenesia pancreática y cerebelosa","Spanish_Description_Source__c":"ORPHA:65288","Spanish_Description__c":"Es un síndrome caracterizado por diabetes mellitus neonatal asociada a agenesia cerebelosa y/o pancreática.","Spanish_Disease_Name__c":"síndrome de diabetes mellitus neonatal permanente-agenesia pancreática y cerebelosa","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","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":"Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.","Curated_Disease_Description_Source__c":"ORPHA:65288","GARD_Synonym__c":"pancreatic and cerebellar agenesis","Name":"Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome","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":"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:65288"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:65288"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/65288","Source__c":"C1836780; MONDO:0012192; ORPHA:65288","Xref__c":"ORPHA:65288"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=332288","Source__c":"C1836780","Xref__c":"MEDGEN:332288"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563796","Source__c":"MONDO:0012192","Xref__c":"C563796"},{"URL__c":"https://www.omim.org/entry/609069","Source__c":"C1836780; MONDO:0012192; ORPHA:65288","Xref__c":"OMIM:609069"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836780","Source__c":"C1836780","Xref__c":"C1836780"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012192","Source__c":"GARD:0016670","Xref__c":"MONDO:0012192"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PTF1A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:65288","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000325","HPO_Synonym__c":"Face with broad temples and narrow chin; Inverted triangular face; Triangular face; Triangular facial shape; Triangular facies","HPO_Name__c":"Triangular face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65288","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000857","HPO_Name__c":"Neonatal insulin-dependent diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65288","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65288","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100800","HPO_Synonym__c":"Absent/small pancreas; Absent/underdeveloped pancreas","HPO_Name__c":"Aplasia/Hypoplasia of the pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65288","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001321","HPO_Synonym__c":"Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum","HPO_Name__c":"Cerebellar hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65288","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000331","HPO_Synonym__c":"Decreased height of chin; Short chin; Short lower third of face; Vertical deficiency of chin; Vertical hypoplasia of chin","HPO_Name__c":"Short chin","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65288","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000609","HPO_Synonym__c":"Hypoplastic optic nerves; Underdeveloped optic nerves","HPO_Name__c":"Optic nerve hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Endocrine","Pediatrics"]},"synonyms":["pancreatic and cerebellar agenesis"]}