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1 OMIM reference -
2 associated genes
20 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
No signs/symptoms info
Piebaldism
Testicular seminomatous germ cell tumor

KIT DNAAF1
SNAI2 KITLG
SPRY4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KIT
(0.9)
KITLG



Citations in the biomedical literature:


Piebaldism
KIT SNAI2
Testicular seminomatous germ cell tumor
DNAAF1 KITLG SPRY4



Piebaldism
Testicular seminomatous germ cell tumor

Synonym(s):
(no synonyms)

Synonym(s):
- Dysgerminoma of the testis
- Dysgerminomatous germ cell tumor of the testis
- Seminoma of the testis
- Seminomatous germ cell tumor of the testis
- Testicular dysgerminoma
- Testicular dysgerminomatous germ cell tumor
- Testicular seminoma

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare oncologic disease
- Rare urogenital disease

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

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: unknown
Average age onset: adulthood
Average age of death: any age
Type of inheritance: sporadic

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

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


Testicular seminomatous germ cell tumor

(no data available)