{"Name":"Non-acquired combined pituitary hormone deficiency with spine abnormalities","DiseaseID__c":"GARD:0010603","id":10603,"encodedName":"non-acquired-combined-pituitary-hormone-deficiency-with-spine-abnormalities","IsDeleted":false,"Disease_Name_Full__c":"Non-acquired combined pituitary hormone deficiency with spine abnormalities","Xref_IDs__c":"C3489787; C536710; DOID:0061021; MEDGEN:483740; MONDO:0009091; OMIM:221750; ORPHA:231720","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:0009091","Disease_Description__c":"Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.","GARD_Name__c":"Non-acquired combined pituitary hormone deficiency with spine abnormalities","GARD_Synonym__c":"combined pituitary hormone deficiency type 3; cphd3; lhx3-related combined pituitary hormone deficiency; non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome; non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome; pituitary hormone deficiency, combined, type 3; wbp syndrome; winkelman bethge pfeiffer syndrome","Curated_Disease_Description_Source__c":"MONDO:0009091","Curated_Disease_Description__c":"Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.","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:231720","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009091","ORPHANET_ID__c":"ORPHA:231720","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de deficiencia de hormonas hipofisarias combinada no adquirida-hipoacusia neurosensorial-anomalías de la columna vertebral","Spanish_Description_Source__c":"ORPHA:231720","Spanish_Description__c":"El síndrome de deficiencia de la hormona hipofisaria combinada no adquirida con pérdida auditiva neurosensorial y anomalías de la columna vertebral, es un trastorno poco frecuente, genético, no adquirido, de deficiencia de hormona hipofisaria combinada, caracterizado por panhipopituitarismo (con o sin deficiencia de ACTH) y asociado a anomalías de la columna vertebral que incluyen, frecuentemente, rigidez de la columna cervical y cuello corto con rotación limitada, así como diferentes grados de pérdida auditiva neurosensorial. La glándula pituitaria anterior suele ser anómala (típicamente hipoplásica) y, excepcionalmente, se puede asociar leve retraso en el desarrollo o discapacidad intelectual.","Spanish_Disease_Name__c":"síndrome de deficiencia de hormonas hipofisarias combinada no adquirida-hipoacusia neurosensorial-anomalías de la columna vertebral","Spanish_GARD_Synonym__c":"síndrome de deficiencia de hormonas hipofisarias combinada no adquirida-sordera-columna vertebral rígida","Category_Linearization__c":"ORPHA:97978","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":"Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.","Curated_Disease_Description_Source__c":"MONDO:0009091","GARD_Synonym__c":"combined pituitary hormone deficiency type 3; cphd3; lhx3-related combined pituitary hormone deficiency; non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome; non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome; pituitary hormone deficiency, combined, type 3; wbp syndrome; winkelman bethge pfeiffer syndrome","Name":"Non-acquired combined pituitary hormone deficiency with spine abnormalities","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":"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pituitary deficiency","Tag_Category__c":"Account","curated_tag_name":"Pituitary deficiencies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:231720"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:231720"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3489787"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010603","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/231720","Source__c":"C3489787; MONDO:0009091","Xref__c":"ORPHA:231720"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3489787","Source__c":"C3489787","Xref__c":"C3489787"},{"URL__c":"https://www.omim.org/entry/221750","Source__c":"C3489787; MONDO:0009091; ORPHA:231720","Xref__c":"OMIM:221750"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=483740","Source__c":"C3489787","Xref__c":"MEDGEN:483740"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536710","Source__c":"MONDO:0009091","Xref__c":"C536710"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009091","Source__c":"GARD:0010603","Xref__c":"MONDO:0009091"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061021","Source__c":"MONDO:0009091","Xref__c":"DOID:0061021"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LHX3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:231720","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:231720","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000824","HPO_Name__c":"Decreased response to growth hormone stimulation test","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231720","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008213","HPO_Synonym__c":"Pituitary gonadotropin deficiency","HPO_Name__c":"Gonadotropin deficiency","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231720","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003423","HPO_Synonym__c":"Dorsolumbar kyphosis","HPO_Name__c":"Thoracolumbar kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231720","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008245","HPO_Synonym__c":"Low thyroid gland function due to abnormal pituitary gland; Secondary hypothyroidism; Thyroid stimulating hormone deficiency; Thyrotropin deficiency; TSH deficient hypothyroidism","HPO_Name__c":"Pituitary hypothyroidism","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231720","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011748","HPO_Synonym__c":"ACTH deficiency; Corticotropin deficiency","HPO_Name__c":"Adrenocorticotropic hormone deficiency","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231720","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012287","HPO_Name__c":"Hypothalamic luteinizing hormone-releasing hormone deficiency","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231720","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the anterior pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010627","HPO_Synonym__c":"Small anterior pituitary lobe; Underdeveloped pituitary gland","HPO_Name__c":"Anterior pituitary hypoplasia","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231720","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231720","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Endocrine","Otolaryngology","Pediatrics"],"Account":["Pituitary deficiency"]},"synonyms":["combined pituitary hormone deficiency type 3"," cphd3"," lhx3-related combined pituitary hormone deficiency"," non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome"," non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome"," pituitary hormone deficiency, combined, type 3"," wbp syndrome"," winkelman bethge pfeiffer syndrome"]}