ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

Combined immunodeficiency due to STK4 deficiency

Dilated cardiomyopathy - hypergonadotropic hypogonadism


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STK4	(0.63)	LMNA

Citations in the biomedical literature:

Combined immunodeficiency due to STK4 deficiency		Dilated cardiomyopathy - hypergonadotropic hypogonadism
	Synonym(s): - CID due to STK4 deficiency		Synonym(s): - Cardiogenital syndrome - Malouf syndrome - Najjar syndrome

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare cardiac disease - Rare endocrine disease - Rare genetic disease - Rare infertility

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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

Dilated cardiomyopathy - hypergonadotropic hypogonadism
	Very frequent - Abnormal / polycystic ovaries - Autosomal recessive inheritance - Broad nose / nasal bridge - Cardiomyopathy / hypertrophic / dilated - Decreased body hair / axillar / pubic hairlessness - Late puberty / hypogonadism / hypogenitalism - Precocious puberty - Ptosis
Combined immunodeficiency due to STK4 deficiency
(no data available)