Cytoscape Web
Click node...

Autosomal recessive limb-girdle muscular dystrophy type 2Q
1 OMIM reference -
1 associated gene
41 connected diseases
No signs/symptoms info
Disease Type of connection
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Amyotrophic lateral sclerosis
Extraskeletal myxoid chondrosarcoma
Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa - pyloric atresia
Localized junctional epidermolysis bullosa, non-Herlitz type
Pulverulent cataract
Estrogen resistance syndrome
17q11 microdeletion syndrome
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Dedifferentiated liposarcoma
Familial isolated dilated cardiomyopathy
Fibronectin glomerulopathy
Heritable pulmonary arterial hypertension
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Muscular dystrophy, Selcen type
Progressive non-fluent aphasia
Pseudohypoaldosteronism type 2E
Semantic dementia
Spastic paraplegia - Paget disease of bone
Weaver syndrome
Well-differentiated liposarcoma
Young adult-onset Parkinsonism
Frontotemporal dementia with motor neuron disease
Juvenile amyotrophic lateral sclerosis
Myxofibrosarcoma
Myxoid / round cell liposarcoma
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Hereditary spherocytosis
Melanoma of soft part
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Lethal acantholytic epidermolysis bullosa
Naxos disease
Synonym(s):
- Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
- LGMD2Q
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PLEC Q15149601282
No signs/symptoms info available.