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2 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Alternating hemiplegia of childhood
Darier disease

ATP1A2 ATP2A2
ATP1A3
CACNA1A
SLC1A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ATP1A2
(0.63)
ATP2A2



Citations in the biomedical literature:


Alternating hemiplegia of childhood
ATP1A2 ATP1A3 CACNA1A SLC1A3
Darier disease
ATP2A2



Alternating hemiplegia of childhood
Darier disease

Synonym(s):
- AHC
- Alternating hemiplegia in childhood

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

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
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:
2 OMIM references -
1 MeSH reference: C536589
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


Alternating hemiplegia of childhood

(no data available)