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Translocation renal cell carcinoma
1 OMIM reference -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Mandibuloacral dysplasia with type A lipodystrophy
1 OMIM reference -
1 associated gene
28 signs/symptoms
Translocation renal cell carcinoma
Mandibuloacral dysplasia with type A lipodystrophy

ASPSCR1
(UniProt - OMIM)
 LMNA
(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)
NONO
(0.59)
LMNA


Citations in the biomedical literature:


Translocation renal cell carcinoma
ASPSCR1 CLTC NONO PRCC SFPQ TFE3
TFEB
Mandibuloacral dysplasia with type A lipodystrophy
LMNA



Translocation renal cell carcinoma
Mandibuloacral dysplasia with type A lipodystrophy

Synonym(s):
- Carcinoma associated with MITF/TFE translocation
- Translocation carcinoma
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare oncologic disease
- Rare renal disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535705
Mandibuloacral dysplasia with type A lipodystrophy

Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Alopecia
- Clavicle absent / abnormal
- Large fontanelle / delayed fontanelle closure
- Osteolysis / osteoclasia / bone destruction / erosions
- Premature ageing
- Restricted joint mobility / joint stiffness / ankylosis
- Short stature / dwarfism / nanism
- Skin hypoplasia / aplasia / atrophy
- Terminal / third phalangeal bone of fingers hypoplasia
- Wormian bones

Frequent
- Eyebrows anomalies
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin resistance
- Proptosis / exophthalmos

Occasional
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Anomalies of cartilages, joints and periarticular tissue
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of teeth and dentition
- Articular / joint pain / arthralgia
- Autosomal recessive inheritance
- Breast tissue / mammary gland absence / aplasia
- Cataract / lens opacification
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Hypotonia
- Muscle anomalies
- Tight skin / lack of elasticity


Translocation renal cell carcinoma

(no data available)