{"Name":"Pituitary hormone deficiency, combined, 2","DiseaseID__c":"GARD:0015222","id":15222,"encodedName":"pituitary-hormone-deficiency-combined-2","IsDeleted":false,"Disease_Name_Full__c":"Pituitary hormone deficiency, combined, 2","Xref_IDs__c":"C0878683; C563172; DOID:0061020; MEDGEN:209236; MONDO:0009878; OMIM:262600","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009878","Disease_Description__c":"Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene.","GARD_Name__c":"Pituitary hormone deficiency, combined, 2","GARD_Synonym__c":"ateliotic dwarfism with hypogonadism; combined pituitary hormone deficiencies, genetic form caused by mutation in prop1; hanhart dwarfism; pituitary dwarfism iii; pituitary hormone deficiency, combined, type 2; prop1 combined pituitary hormone deficiencies, genetic form; prop1-related combined pituitary hormone deficiency","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Combined pituitary hormone deficiency 2 (CPHD2) is a rare genetic condition. It is caused by mutations in the PROP1 gene. People with this condition have less growth hormone and thyroid-stimulating hormone. They also have less luteinizing hormone (LH), follicle-stimulating hormone (FSH), and prolactin. This is because lower amounts of each of these hormones are being secreted by the pituitary gland. Occasionally, adrenocorticotropic hormone secretion is also reduced. Newborns with CPHD2 typically do not show signs of hormone deficiency at birth. That is unlike other forms of congenital pituitary hormone deficiency. Birth weight and length are generally unaffected. Hypoglycemia and jaundice are not common findings. Shortly after birth, thyroid-stimulating hormone deficiencies may appear. Growth hormone deficiency may lead to a child being shorter than their peers. LH and FSH deficiencies can lead to disruptions in puberty and fertility. For example, untreated males may have a small penis and testes. Females may need hormone therapy after starting their periods. CPHD2 is inherited in an autosomal recessive pattern. This means that two copies of the mutated gene are required to cause the disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:262600","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009878","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Combined pituitary hormone deficiency 2 (CPHD2) is a rare genetic condition. It is caused by mutations in the PROP1 gene. People with this condition have less growth hormone and thyroid-stimulating hormone. They also have less luteinizing hormone (LH), follicle-stimulating hormone (FSH), and prolactin. This is because lower amounts of each of these hormones are being secreted by the pituitary gland. Occasionally, adrenocorticotropic hormone secretion is also reduced. Newborns with CPHD2 typically do not show signs of hormone deficiency at birth. That is unlike other forms of congenital pituitary hormone deficiency. Birth weight and length are generally unaffected. Hypoglycemia and jaundice are not common findings. Shortly after birth, thyroid-stimulating hormone deficiencies may appear. Growth hormone deficiency may lead to a child being shorter than their peers. LH and FSH deficiencies can lead to disruptions in puberty and fertility. For example, untreated males may have a small penis and testes. Females may need hormone therapy after starting their periods. CPHD2 is inherited in an autosomal recessive pattern. This means that two copies of the mutated gene are required to cause the disease.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"ateliotic dwarfism with hypogonadism; combined pituitary hormone deficiencies, genetic form caused by mutation in prop1; hanhart dwarfism; pituitary dwarfism iii; pituitary hormone deficiency, combined, type 2; prop1 combined pituitary hormone deficiencies, genetic form; prop1-related combined pituitary hormone deficiency","Name":"Pituitary hormone deficiency, combined, 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The MAGIC Foundation","Website__c":"https://www.magicfoundation.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1347","Source__c":"Gene Review","Xref__c":"NBK1347"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0878683","Source__c":"C0878683","Xref__c":"C0878683"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563172","Source__c":"MONDO:0009878","Xref__c":"C563172"},{"URL__c":"https://www.omim.org/entry/262600","Source__c":"C0878683; MONDO:0009878","Xref__c":"OMIM:262600"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=209236","Source__c":"C0878683","Xref__c":"MEDGEN:209236"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009878","Source__c":"GARD:0015222","Xref__c":"MONDO:0009878"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061020","Source__c":"MONDO:0009878","Xref__c":"DOID:0061020"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PROP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prop1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:262600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008202","HPO_Synonym__c":"Prolactin deficiency","HPO_Name__c":"Reduced circulating prolactin concentration","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031098","HPO_Synonym__c":"Decreased plasma TSH; Decreased thyrotropin level","HPO_Name__c":"Decreased thyroid-stimulating hormone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262600","Feature__r":{"HPO_Description__c":"A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000871","HPO_Name__c":"Panhypopituitarism","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262600","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001998","HPO_Synonym__c":"Low blood sugar in newborn","HPO_Name__c":"Neonatal hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:262600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the circulating level of luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030344","HPO_Synonym__c":"Decreased circulating luteinising hormone level","HPO_Name__c":"Decreased circulating luteinizing hormone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262600","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262600","Feature__r":{"HPO_Description__c":"A decreased functionality of the gonad.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000135","HPO_Synonym__c":"Decreased activity of gonads","HPO_Name__c":"Hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262600","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:262600","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002173","HPO_Name__c":"Hypoglycemic seizures","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:262600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of the circulating level of follicle-stimulating hormone (FSH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030341","HPO_Synonym__c":"Decreased circulating follicle stimulating hormone level","HPO_Name__c":"Decreased circulating follicle stimulating hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262600","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:262600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of growth hormone in the blood circulation below normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034323","HPO_Synonym__c":"Growth hormone deficiency; Somatotropin deficiency","HPO_Name__c":"Reduced circulating growth hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262600","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"}}],"tags":{},"synonyms":["ateliotic dwarfism with hypogonadism"," combined pituitary hormone deficiencies, genetic form caused by mutation in prop1"," hanhart dwarfism"," pituitary dwarfism iii"," pituitary hormone deficiency, combined, type 2"," prop1 combined pituitary hormone deficiencies, genetic form"," prop1-related combined pituitary hormone deficiency"]}