Cytoscape Web
Click node...


1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
31 signs/symptoms
Papillary renal cell carcinoma
Waardenburg syndrome type 1

MITF PAX3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MITF
(0.52)
PAX3



Citations in the biomedical literature:


Papillary renal cell carcinoma
MITF
Waardenburg syndrome type 1
PAX3



Papillary renal cell carcinoma
Waardenburg syndrome type 1

Synonym(s):
- Papillary renal cell adenocarcinoma

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare oncologic disease
- Rare renal disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare skin disease

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
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 -
No MeSH references

Waardenburg syndrome type 1

Very frequent
- Albinism (hair)
- Anomalies of ear and hearing
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of eyes and vision
- Autosomal dominant inheritance
- Decreased hair pigmentation / hypopigmentation of hair
- Defect / anomaly of lacrimal system
- Eyebrows anomalies
- Hearing loss / hypoacusia / deafness
- Heterochromia / mixed colouring of iris
- Irregular / patchy skin hypopigmentation
- Prognathism / prognathia
- Short / small nose
- Telecanthus / canthal dystopy
- White forelock / piebaldism

Frequent
- Broad nasal root
- Hair and scalp anomalies
- Premature greying of hair
- Synophris / synophrys
- Tented upper lip
- Thin / hypoplastic ala nasi

Occasional
- Cleft lip
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Congenital cardiac anomaly / malformation / cardiopathy
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Meningocele
- Ptosis
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Scoliosis
- Spina bifida
- Strabismus / squint


Papillary renal cell carcinoma

(no data available)