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Translocation renal cell carcinoma
1 OMIM reference -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Mandibulofacial dysostosis-microcephaly syndrome
1 OMIM reference -
1 associated gene
29 signs/symptoms
Translocation renal cell carcinoma
Mandibulofacial dysostosis-microcephaly syndrome

ASPSCR1
(UniProt - OMIM)
 EFTUD2
(UniProt - OMIM)
CLTC
(UniProt - OMIM)
NONO
(UniProt - OMIM)
PRCC
(UniProt - OMIM)
SFPQ
(UniProt - OMIM)
TFE3
(UniProt - OMIM)
TFEB
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SFPQ
(0.49)
EFTUD2


Citations in the biomedical literature:


Translocation renal cell carcinoma
ASPSCR1 CLTC NONO PRCC SFPQ TFE3
TFEB
Mandibulofacial dysostosis-microcephaly syndrome
EFTUD2



Translocation renal cell carcinoma
Mandibulofacial dysostosis-microcephaly syndrome

Synonym(s):
- Carcinoma associated with MITF/TFE translocation
- Translocation carcinoma
Synonym(s):
- Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate
- MFDM syndrome
- Mandibulofacial dysostosis, Guion-Almeida type
Classification (Orphanet):
- Rare oncologic disease
- Rare renal disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Mandibulofacial dysostosis-microcephaly syndrome

Very frequent
- Antihelix anomaly
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Preauricular / branchial tags / appendages
- Prominent / bat ears
- Short stature / dwarfism / nanism
- Short / small nose
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tragus abnormal / absent
- Trigonocephaly
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Frequent
- Autosomal recessive inheritance
- Epicanthic folds
- External auditory canal atresia / stenosis / agenesis
- Folded helix
- Limited opening of the mouth
- Oral synechiae / abnormal frenulae
- Preaxial polydactyly (hand)
- Telecanthus / canthal dystopy
- Thick / wide ear lobe

Occasional
- Atrial septal defect / interauricular communication
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss


Translocation renal cell carcinoma

(no data available)