Cytoscape Web
Click node...


1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
2 associated genes
20 signs/symptoms
Nodular urticaria pigmentosa
Piebaldism

KIT KIT
SNAI2


COMMON
GENES
KIT



Citations in the biomedical literature:


Nodular urticaria pigmentosa
KIT
Piebaldism
SNAI2



Nodular urticaria pigmentosa
Piebaldism

Classification (Orphanet):
- Rare allergic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare skin 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:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D016116

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


Nodular urticaria pigmentosa

(no data available)