Pituitary deficiency due to empty sella turcica syndrome

Summary

Pituitary deficiency due to empty sella turcica syndrome (MONDO:0019617) is a disease. A subtype of pituitary deficiency — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 21

Clinical features

Signs & symptoms

Clinical features (HPO)

21 HPO clinical features (Orphanet curated; top 21 by frequency):

HPO ID	Term	Frequency
HP:0000802	Impotence	Frequent (30-79%)
HP:0000876	Oligomenorrhea	Frequent (30-79%)
HP:0002315	Headache	Frequent (30-79%)
HP:0000824	Decreased response to growth hormone stimulation test	Occasional (5-29%)
HP:0000826	Precocious puberty	Occasional (5-29%)
HP:0000870	Increased circulating prolactin concentration	Occasional (5-29%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0002921	Abnormality of the cerebrospinal fluid	Occasional (5-29%)
HP:0002960	Autoimmunity	Occasional (5-29%)
HP:0007663	Reduced visual acuity	Occasional (5-29%)
HP:0008245	Pituitary hypothyroidism	Occasional (5-29%)
HP:0011446	Abnormality of higher mental function	Occasional (5-29%)
HP:0011748	Adrenocorticotropic hormone deficiency	Occasional (5-29%)
HP:0030532	Visual acuity test abnormality	Occasional (5-29%)
HP:0040075	Hypopituitarism	Occasional (5-29%)
HP:0002893	Pituitary adenoma	Excluded (0%)
HP:0000651	Diplopia	Very rare (<1-4%)
HP:0000863	Central diabetes insipidus	Very rare (<1-4%)
HP:0002615	Hypotension	Very rare (<1-4%)
HP:0002902	Hyponatremia	Very rare (<1-4%)
HP:0100661	Trigeminal neuralgia	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	pituitary deficiency due to empty sella turcica syndrome
Mondo ID	MONDO:0019617
Orphanet	91354
ICD-11	309067714
SNOMED CT	715668008
UMLS	C4275064
MedGen	902244
GARD	0019163
Is cancer (heuristic)	no

Also known as: hypopituitarism due to empty sella turcica syndrome

Disease family

Classification path: disease › human disease › disease by body system or component › endocrine system disorder › pituitary deficiency › pituitary deficiency due to empty sella turcica syndrome

Related subtypes (4): central diabetes insipidus, pituitary deficiency due to Rathke’s pouch cysts, non-acquired pituitary hormone deficiency, acquired pituitary hormone deficiency

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.