ODCs

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2 associated genes
15 signs/symptoms

COMMON GENES: 2
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

5 associated genes
17 signs/symptoms

Pituitary stalk interruption syndrome

Hypothyroidism due to deficient transcription factors involved in pituitary development or function


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

Citations in the biomedical literature:

Pituitary stalk interruption syndrome		Hypothyroidism due to deficient transcription factors involved in pituitary development or function
	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

	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: No OMIM references No MeSH references


COMMON SIGNS	- Failure to thrive / difficulties for feeding in infancy / growth delay - Hypothyroidy - Intellectual deficit / mental / psychomotor retardation / learning disability - Septo-optic dysplasia - Short stature / dwarfism / nanism

Pituitary stalk interruption syndrome		Hypothyroidism due to deficient transcription factors involved in pituitary development or function
	Very frequent - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies Frequent - Hypoglycemia - Late puberty / hypogonadism / hypogenitalism - Micropenis / small penis / agenesis Occasional - Cortico-adrenal hypoplasia / insufficiency - Death in infancy - Diabetes insipidus - Primary amenorrhea - Seizures / epilepsy / absences / spasms / status epilepticus - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - Coarse face - Constipation - Face / facial anomalies - Hepatitis / icterus / cholestasis - Hypotonia - Large fontanelle / delayed fontanelle closure - Sleep and vigilance disorders - Umbilical hernia Frequent - Cleft lip and palate - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism