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Pituitary stalk interruption syndrome

2 associated genes
15 signs/symptoms

PROTEIN INTERACTIONS: 1

Saldino-Mainzer syndrome

2 OMIM references -
2 associated genes
No signs/symptoms info

Pituitary stalk interruption syndrome

Saldino-Mainzer syndrome

HESX1	(UniProt - OMIM)		IFT140	(UniProt - OMIM)
LHX4	(UniProt - OMIM)		IFT172	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LHX4	(0.76)	IFT172

Citations in the biomedical literature:

Pituitary stalk interruption syndrome		Saldino-Mainzer syndrome
	Synonym(s): - Ectopic neurohypophysis - PSIS		Synonym(s): - Conorenal syndrome - Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: before age 5 Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: No OMIM references No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C535463

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
Saldino-Mainzer syndrome
(no data available)