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2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Intermittent hydrarthrosis
Darier disease

MEFV ATP2A2
TNFRSF1A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TNFRSF1A
(0.72)
ATP2A2



Citations in the biomedical literature:


Intermittent hydrarthrosis
MEFV TNFRSF1A
Darier disease
ATP2A2



Intermittent hydrarthrosis
Darier disease

Synonym(s):
(no synonyms)

Synonym(s):
- Darier-White disease
- Keratosis follicularis

Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
(no data available)
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:
No OMIM references
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


Intermittent hydrarthrosis

(no data available)