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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Leukonychia totalis

APP PLCD1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
PLCD1



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Leukonychia totalis
PLCD1



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Leukonychia totalis

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic 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:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535889


COMMON
SIGNS
- Autosomal dominant inheritance


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Leukonychia totalis

Very frequent
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Very frequent
- Abnormal fingernails
- Abnormal toenails
- Adenoma sebaceum
- Urinary / renal lithiasis / kidney stones / nephritic colic

Frequent
- Anomalies of eyelids, eyelashes and lacrimal system
- Blepharitis / eyelid inflammation
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Photophobia

Occasional
- Insulin-independent / type 2 diabetes