{"Name":"Primary immunodeficiency syndrome due to p14 deficiency","DiseaseID__c":"GARD:0016783","id":16783,"encodedName":"primary-immunodeficiency-syndrome-due-to-p14-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Primary immunodeficiency syndrome due to p14 deficiency","Xref_IDs__c":"718717004; C1835829; C563663; MEDGEN:372135; MONDO:0012559; OMIM:610798; ORPHA:90023","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":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012559","Disease_Description__c":"Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary <i>Streptococcus pneumoniae</i> infections.","GARD_Name__c":"Primary immunodeficiency syndrome due to p14 deficiency","GARD_Synonym__c":"primary immunodeficiency syndrome due to lamtor2 deficiency; primary immunodeficiency syndrome with short stature","Curated_Disease_Description_Source__c":"ORPHA:90023","Curated_Disease_Description__c":"Primary immunodeficiency syndrome due to LAMTOR2 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary <i>Streptococcus pneumoniae</i> infections.","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:90023","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012559","ORPHANET_ID__c":"ORPHA:90023","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de inmunodeficiencia primaria por deficiencia de p14/lamtor2","Spanish_Description_Source__c":"ORPHA:90023","Spanish_Description__c":"Es un síndrome caracterizado por talla baja, hipopigmentación, facies tosca y frecuentes infecciones broncopulmonares por <i>Streptococcus pneumoniae</i>.","Spanish_Disease_Name__c":"síndrome de inmunodeficiencia primaria por deficiencia de p14/lamtor2","Spanish_GARD_Synonym__c":"síndrome de inmunodeficiencia primaria por deficiencia de lamtor2; síndrome de inmunodeficiencia primaria por deficiencia de p14; síndrome de inmunodeficiencia primaria por deficiencia de p14; síndrome de inmunodeficiencia primaria por deficiencia de p14/endosoma tardío/adaptador lisosomal, activador mapk y mtor 2","Category_Linearization__c":"ORPHA:98004","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":"Primary immunodeficiency syndrome due to LAMTOR2 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary <i>Streptococcus pneumoniae</i> infections.","Curated_Disease_Description_Source__c":"ORPHA:90023","GARD_Synonym__c":"primary immunodeficiency syndrome due to lamtor2 deficiency; primary immunodeficiency syndrome with short stature","Name":"Primary immunodeficiency syndrome due to p14 deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.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":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:90023"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:90023"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/610798","Source__c":"C1835829; MONDO:0012559; ORPHA:90023","Xref__c":"OMIM:610798"},{"URL__c":"https://www.orpha.net/en/disease/detail/90023","Source__c":"C1835829; MONDO:0012559","Xref__c":"ORPHA:90023"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835829","Source__c":"C1835829","Xref__c":"C1835829"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=372135","Source__c":"C1835829","Xref__c":"MEDGEN:372135"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563663","Source__c":"MONDO:0012559","Xref__c":"C563663"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718717004","Source__c":"MONDO:0012559","Xref__c":"718717004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012559","Source__c":"GARD:0016783","Xref__c":"MONDO:0012559"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LAMTOR2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90023","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90023","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90023","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90023","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005599","HPO_Synonym__c":"Hair hypopigmentation; Loss of hair color","HPO_Name__c":"Hypopigmentation of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90023","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007443","HPO_Synonym__c":"Congenital partial albinism on face, trunk, or limbs; Congenital partial leucoderma; Partial absent skin pigmentation","HPO_Name__c":"Partial albinism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90023","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90023","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006538","HPO_Synonym__c":"Recurrent bronchopneumonia","HPO_Name__c":"Recurrent bronchopulmonary infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["primary immunodeficiency syndrome due to lamtor2 deficiency"," primary immunodeficiency syndrome with short stature"]}