{"Name":"Panhypopituitarism","DiseaseID__c":"GARD:0015020","id":15020,"encodedName":"panhypopituitarism","IsDeleted":false,"Disease_Name_Full__c":"Panhypopituitarism","Xref_IDs__c":"32390006; C0242343; C110940; DOID:9410; HP:0000871; MEDGEN:69171; MONDO:0019591; ORPHA:90695","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019591","Disease_Description__c":"Insufficient production of all the anterior pituitary hormones.","GARD_Name__c":"Panhypopituitarism","GARD_Synonym__c":"complete hypopituitarism; deficient secretion of all pituitary hormones; genetic panhypopituitarism; non-acquired panhypopituitarism; primary hypopituitarism; simmond's disease; simmonds' disease","Curated_Disease_Description_Source__c":"ORPHA:90695","Curated_Disease_Description__c":"A rare genetic pituitary disease characterized by variable deficiency of all hormones produced in the anterior lobe of the pituitary gland. Clinical manifestations include hypothyroidism, hypogonadism, growth retardation and short stature, and secondary adrenal insufficiency. Age of onset is variable. Signs and symptoms usually develop gradually, and loss of the different hormones is often sequential.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:90695","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019591","ORPHANET_ID__c":"ORPHA:90695","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Panhipopituitarismo no adquirido","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"panhipopituitarismo no adquirido","Spanish_GARD_Synonym__c":"panhipopituitarismo genético","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":"A rare genetic pituitary disease characterized by variable deficiency of all hormones produced in the anterior lobe of the pituitary gland. Clinical manifestations include hypothyroidism, hypogonadism, growth retardation and short stature, and secondary adrenal insufficiency. Age of onset is variable. Signs and symptoms usually develop gradually, and loss of the different hormones is often sequential.","Curated_Disease_Description_Source__c":"ORPHA:90695","GARD_Synonym__c":"complete hypopituitarism; deficient secretion of all pituitary hormones; genetic panhypopituitarism; non-acquired panhypopituitarism; primary hypopituitarism; simmond's disease; simmonds' disease","Name":"Panhypopituitarism","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Pituitary Foundation","Website__c":"https://www.pituitary.org.uk/"}],"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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"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":"All ages","Provided_By__c":"ORPHA:90695"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=32390006","Source__c":"C0242343; MONDO:0019591","Xref__c":"32390006"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C110940","Source__c":"C0242343; MONDO:0019591","Xref__c":"C110940"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0242343","Source__c":"C0242343","Xref__c":"C0242343"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=69171","Source__c":"C0242343","Xref__c":"MEDGEN:69171"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9410","Source__c":"MONDO:0019591","Xref__c":"DOID:9410"},{"URL__c":"https://www.orpha.net/en/disease/detail/90695","Source__c":"C0242343; MONDO:0019591","Xref__c":"ORPHA:90695"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000871","Source__c":"C0242343","Xref__c":"HP:0000871"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019591","Source__c":"GARD:0015020","Xref__c":"MONDO:0019591"},{"URL__c":"https://medlineplus.gov/genetics/condition/combined-pituitary-hormone-deficiency","Source__c":"GARD:0015020","Xref__c":"https://medlineplus.gov/genetics/condition/combined-pituitary-hormone-deficiency"}],"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},{"GeneSymbol__c":"SOX3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced volume of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008734","HPO_Synonym__c":"Decreased testicular size; Decreased testicular volume; Hypoplastic testes; Reduced testicular volume; Small testes; Small testis; Testicular hypoplasia","HPO_Name__c":"Decreased testicular size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000457","HPO_Synonym__c":"Depressed dorsum of nose; Depressed nasal dorsum; Flat dorsum of nose; Flat nasal dorsum; Flat nose; Recessed dorsum of nose; Recessed nasal dorsum; Recessed nasal ridge; Retruded dorsum of nose; Retruded nasal dorsum; Retruded nasal ridge","HPO_Name__c":"Depressed nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000789","HPO_Synonym__c":"Infertility","HPO_Name__c":"Infertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:90695","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormal anatomic location of the anterior pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012731","HPO_Name__c":"Ectopic anterior pituitary gland","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the breasts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010311","HPO_Synonym__c":"Absent/small breasts; Absent/underdeveloped breasts","HPO_Name__c":"Aplasia/Hypoplasia of the breasts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Frequent (30-79%)","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:90695","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:90695","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000141","HPO_Synonym__c":"Abnormal absence of menstruation","HPO_Name__c":"Amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Frequent (30-79%)","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:90695","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteoporosis affecting predominantly the vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005625","HPO_Name__c":"Osteoporosis of vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002920","HPO_Name__c":"Decreased circulating ACTH concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Frequent (30-79%)","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:90695","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Frequent (30-79%)","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:90695","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Low Blood Pressure, vascular hypotension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002615","HPO_Synonym__c":"Arterial hypotension; Low blood pressure","HPO_Name__c":"Hypotension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040075","HPO_Name__c":"Hypopituitarism","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000044","HPO_Synonym__c":"Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism)","HPO_Name__c":"Hypogonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040086","HPO_Synonym__c":"Abnormal prolactin level","HPO_Name__c":"Abnormal prolactin level","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"No secondary sexual characteristics are present at puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008187","HPO_Synonym__c":"No secondary sexual characteristics at puberty","HPO_Name__c":"Absence of secondary sex characteristics","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009888","HPO_Synonym__c":"Abnormality of secondary sexual hair","HPO_Name__c":"Abnormality of secondary sexual hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90695","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011755","HPO_Synonym__c":"Ectopic neurohypophysis; Ectopic posterior pituitary lobe","HPO_Name__c":"Ectopic posterior pituitary","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Infertility","Pituitary deficiency"]},"synonyms":["complete hypopituitarism"," deficient secretion of all pituitary hormones"," genetic panhypopituitarism"," non-acquired panhypopituitarism"," primary hypopituitarism"," simmond's disease"," simmonds' disease"]}