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Translocation renal cell carcinoma
1 OMIM reference -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Familial partial lipodystrophy, Dunnigan type
1 OMIM reference -
1 associated gene
36 signs/symptoms
Translocation renal cell carcinoma
Familial partial lipodystrophy, Dunnigan type

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
Familial partial lipodystrophy, Dunnigan type
LMNA



Translocation renal cell carcinoma
Familial partial lipodystrophy, Dunnigan type

Synonym(s):
- Carcinoma associated with MITF/TFE translocation
- Translocation carcinoma
Synonym(s):
- Dunnigan syndrome
- FPLD2
- Familial partial lipodystrophy type 2
Classification (Orphanet):
- Rare oncologic disease
- Rare renal disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
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
Familial partial lipodystrophy, Dunnigan type

Very frequent
- Abnormal fat distribution / lipodystrophy
- Autosomal dominant inheritance
- Diabetes mellitus
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin resistance
- Lipoatrophy
- Muscle hypertrophy
- Round face
- Skin hypoplasia / aplasia / atrophy
- Xanthomas / lipomas

Frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Nails anomalies
- Precocious menopause / secondary amenorrhea
- Premature eruption of teeth / natal teeth
- Thin skin

Occasional
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Abnormal / polycystic ovaries
- Acanthosis nigricans
- Angor pectoris / myocardial infarction
- Anomalies of complement
- Cardiomyopathy / hypertrophic / dilated
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Cranial nerves palsy
- Heart / cardiac failure
- Hirsutism / hypertrichosis / Increased body hair
- Liver / hepatic steatosis
- Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Myalgia / muscular pain
- Myopathy
- Pancreatitis
- Renal glomerular defect / glomerulopathy
- Splenomegaly
- Storage liver disease


Translocation renal cell carcinoma

(no data available)