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Pituitary stalk interruption syndrome
2 associated genes
15 signs/symptoms
PROTEIN INTERACTIONS: 1
Panhypopituitarism
2 OMIM references -
2 associated genes
No signs/symptoms info
Pituitary stalk interruption syndrome
Panhypopituitarism

HESX1
(UniProt - OMIM)
 PROP1
(UniProt - OMIM)
LHX4
(UniProt - OMIM)
 SOX3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HESX1
(0.52)
PROP1


Citations in the biomedical literature:


Pituitary stalk interruption syndrome
HESX1 LHX4
Panhypopituitarism
PROP1 SOX3



Pituitary stalk interruption syndrome
Panhypopituitarism

Synonym(s):
- Ectopic neurohypophysis
- PSIS
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
No MeSH references
Pituitary stalk interruption syndrome

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


Panhypopituitarism

(no data available)