ODCs

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1 OMIM reference -
2 associated genes
20 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
13 signs/symptoms

Piebaldism

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

KIT	(UniProt - OMIM)		APP	(UniProt - OMIM)
SNAI2	(UniProt - OMIM)


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

Citations in the biomedical literature:

Piebaldism		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Synonym(s): (no synonyms)		Synonym(s): - HCHWA, Piedmont type

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: D016116		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability

Piebaldism		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	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 - Long philtrum - Microcephaly - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Synophris / synophrys		Very frequent - Intracranial / cerebral / meningeal hemorrhage - Motor deficit / trouble - Obnubilation / coma / lethargia / desorientation - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Psychic / psychomotor regression / dementia / intellectual decline - Sensitive trouble / deficit - Transient cerebral ischemia / stroke Frequent - Cerebral vascular anomalies - Facial pain / cephalalgia / migraine - Psychic / behavioural troubles Occasional - Early death / lethality