Cytoscape Web
Click node...

Pituitary stalk interruption syndrome
2 associated genes
11 connected diseases
15 signs/symptoms
Disease Type of connection
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Combined pituitary hormone deficiencies, genetic forms
Kallmann syndrome
Septo-optic dysplasia
Short stature - pituitary and cerebellar defects - small sella turcica
Jeune syndrome
Saldino-Mainzer syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2G
Familial isolated dilated cardiomyopathy
Synovial sarcoma
Panhypopituitarism
Synonym(s):
- Ectopic neurohypophysis
- PSIS
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: before age 5
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
HESX1 Q9UBX0601802
LHX4 Q969G2602146
Very frequent
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Short stature / dwarfism / nanism

Frequent
- Hypoglycemia
- Hypothyroidy
- Late puberty / hypogonadism / hypogenitalism
- Micropenis / small penis / agenesis

Occasional
- Cortico-adrenal hypoplasia / insufficiency
- Death in infancy
- Diabetes insipidus
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Primary amenorrhea
- Seizures / epilepsy / absences / spasms / status epilepticus
- Septo-optic dysplasia
- Undescended / ectopic testes / cryptorchidia / unfixed testes