ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 associated genes
15 signs/symptoms

Autosomal recessive limb-girdle muscular dystrophy type 2G

Pituitary stalk interruption syndrome

TCAP	(UniProt - OMIM)		HESX1	(UniProt - OMIM)
			LHX4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TCAP	(0.63)	LHX4

Citations in the biomedical literature:

Autosomal recessive limb-girdle muscular dystrophy type 2G		Pituitary stalk interruption syndrome
	Synonym(s): - LGMD2G - Limb girdle muscular dystrophy due to telethonin deficiency		Synonym(s): - Ectopic neurohypophysis - PSIS

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: before age 5 Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: No 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
Autosomal recessive limb-girdle muscular dystrophy type 2G
(no data available)