{"Name":"Short stature-pituitary and cerebellar defects-small sella turcica syndrome","DiseaseID__c":"GARD:0010604","id":10604,"encodedName":"short-stature-pituitary-and-cerebellar-defects-small-sella-turcica-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Short stature-pituitary and cerebellar defects-small sella turcica syndrome","Xref_IDs__c":"C2678408; C567492; DOID:0061017; MEDGEN:394816; MONDO:0009880; OMIM:262700; ORPHA:85442","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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009880","Disease_Description__c":"Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor <i>LHX4</i> gene (1q25).","GARD_Name__c":"Short stature-pituitary and cerebellar defects-small sella turcica syndrome","GARD_Synonym__c":"cphd4; lhx4-related combined pituitary hormone deficiency; pituitary hormone deficiency, combined with or without cerebellar defects; pituitary hormone deficiency, combined, type 4; short stature, pituitary and cerebellar defects and small sella turcica","Curated_Disease_Description_Source__c":"MONDO:0009880","Curated_Disease_Description__c":"Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).","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:85442","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009880","ORPHANET_ID__c":"ORPHA:85442","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de talla baja-defectos en el cerebelo e hipófisis-silla turca pequeña","Spanish_Description_Source__c":"ORPHA:85442","Spanish_Description__c":"Es un síndrome caracterizado por talla baja, deficiencia de la hormona pituitaria anterior, silla turca pequeña y una hipófisis anterior hipoplásica asociada con amígdalas cerebelosas de configuración puntiaguda. Se ha descrito en tres generaciones de una familia francesa numerosa. En algunos pacientes se observó ectopia de la hipófisis posterior. El síndrome se transmite como un rasgo dominante y está causado por una mutación de la línea germinal en el gen <i>LHX4</i> del factor de transcripción LIM-homeobox (1q25).","Spanish_Disease_Name__c":"síndrome de talla baja-defectos en el cerebelo e hipófisis-silla turca pequeña","Spanish_GARD_Synonym__c":null,"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":"Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).","Curated_Disease_Description_Source__c":"MONDO:0009880","GARD_Synonym__c":"cphd4; lhx4-related combined pituitary hormone deficiency; pituitary hormone deficiency, combined with or without cerebellar defects; pituitary hormone deficiency, combined, type 4; short stature, pituitary and cerebellar defects and small sella turcica","Name":"Short stature-pituitary and cerebellar defects-small sella turcica 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":"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":"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:85442"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:85442"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2678408"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010604","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2678408","Source__c":"C2678408","Xref__c":"C2678408"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567492","Source__c":"MONDO:0009880","Xref__c":"C567492"},{"URL__c":"https://www.orpha.net/en/disease/detail/85442","Source__c":"C2678408; MONDO:0009880","Xref__c":"ORPHA:85442"},{"URL__c":"https://www.omim.org/entry/262700","Source__c":"C2678408; MONDO:0009880; ORPHA:85442","Xref__c":"OMIM:262700"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=394816","Source__c":"C2678408","Xref__c":"MEDGEN:394816"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009880","Source__c":"GARD:0010604","Xref__c":"MONDO:0009880"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061017","Source__c":"MONDO:0009880","Xref__c":"DOID:0061017"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LHX4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:262700","Feature__r":{"HPO_Description__c":"A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000839","HPO_Name__c":"Pituitary dwarfism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262700","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003799","HPO_Synonym__c":"Marked delay in bone age; Marked retardation in skeletal maturation; Markedly retarded bone age","HPO_Name__c":"Marked delay in bone age","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally small sella turcica.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010538","HPO_Synonym__c":"Hypoplasia of sella turcica","HPO_Name__c":"Small sella turcica","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262700","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":"OMIM:262700","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:262700","Feature__r":{"HPO_Description__c":"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000846","HPO_Synonym__c":"Hypoadrenalism","HPO_Name__c":"Adrenal insufficiency","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262700","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262700","Feature__r":{"HPO_Description__c":"Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031079","HPO_Name__c":"Impaired growth-hormone response to insulin stimulation test","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262700","Feature__r":{"HPO_Description__c":"Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008850","HPO_Synonym__c":"Marked growth retardation; Severe growth delay in children; Severe postnatal growth deficiency; Severe postnatal growth failure","HPO_Name__c":"Severe postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"],"Account":["Pituitary deficiency"]},"synonyms":["cphd4"," lhx4-related combined pituitary hormone deficiency"," pituitary hormone deficiency, combined with or without cerebellar defects"," pituitary hormone deficiency, combined, type 4"," short stature, pituitary and cerebellar defects and small sella turcica"]}