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17q11 microdeletion syndrome

1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

17q11 microdeletion syndrome

Darier disease

NF1	(UniProt - OMIM)		ATP2A2	(UniProt - OMIM)
RNF135	(UniProt - OMIM)
SUZ12	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SUZ12	(0.63)	ATP2A2

Citations in the biomedical literature:

17q11 microdeletion syndrome		Darier disease
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - Darier-White disease - Keratosis follicularis

	Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		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
17q11 microdeletion syndrome
(no data available)