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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
20 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Piebaldism

APP KIT
SNAI2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
SNAI2



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Piebaldism
KIT SNAI2



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Piebaldism

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 eye disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
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: D016116


COMMON
SIGNS
- Autosomal dominant inheritance


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Piebaldism

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



Very frequent
- Decreased hair pigmentation / hypopigmentation of hair
- Irregular / patchy skin hypopigmentation
- White forelock / piebaldism

Frequent
- Anomalies of eyelids, eyelashes and lacrimal system
- Irregular / in bands / reticular skin hyperpigmentation
- Macules

Occasional
- Anomalies of mouth, lip and philtrum
- Ataxia / incoordination / trouble of the equilibrium
- Brachycephaly / flat occiput
- Broad nasal root
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Hearing loss / hypoacusia / deafness
- Heterochromia / mixed colouring of iris
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Microcephaly
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Synophris / synophrys