Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
20 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Piebaldism
Adrenocortical carcinoma

KIT TP53
SNAI2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SNAI2
(0.63)
TP53



Citations in the biomedical literature:


Piebaldism
KIT SNAI2
Adrenocortical carcinoma
TP53



Piebaldism
Adrenocortical carcinoma

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare endocrine disease
- Rare infertility
- Rare oncologic disease
- Rare renal disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: D016116
External references:
1 OMIM reference -
1 MeSH reference: D018268

Piebaldism

Very frequent
- Autosomal dominant inheritance
- 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


Adrenocortical carcinoma

(no data available)