ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Combined immunodeficiency due to STK4 deficiency

Darier disease


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STK4	(0.63)	ATP2A2

Citations in the biomedical literature:

Combined immunodeficiency due to STK4 deficiency		Darier disease
	Synonym(s): - CID due to STK4 deficiency		Synonym(s): - Darier-White disease - Keratosis follicularis

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: 1-9 / 100 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D007644

Darier disease
	Very frequent - Autosomal dominant inheritance - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Nails anomalies - Pruritus / itching Frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Enanthema / aphtosa / aphta / leukoplakia - Hair and scalp anomalies - Palmoplantar hyperkeratosis / keratoderma - Thick skin / pachydermia / orange skin Occasional - Macules - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
Combined immunodeficiency due to STK4 deficiency
(no data available)