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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
4 signs/symptoms
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Myxoid/round cell liposarcoma

PLEC DDIT3
FUS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PLEC
(0.59)
FUS



Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC
Myxoid/round cell liposarcoma
DDIT3 FUS



Autosomal recessive limb-girdle muscular dystrophy type 2Q
Myxoid/round cell liposarcoma

Synonym(s):
- Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
- LGMD2Q

Synonym(s):
- MRCLS

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare oncologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D018208

Myxoid/round cell liposarcoma

Very frequent
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Acute abdominal pain / colic
- Intestinal transit disorder


Autosomal recessive limb-girdle muscular dystrophy type 2Q

(no data available)