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Epidermolysis bullosa simplex with muscular dystrophy

1 OMIM reference -
1 associated gene
41 connected diseases
14 signs/symptoms

Disease	Type of connection
Epidermolysis bullosa simplex with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
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): - EBS-MD - Limb girdle dystrophy with epidermolysis bullosa simplex

Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - No MeSH references

Gene symbol	UniProt reference	OMIM reference
PLEC	Q15149	601282

Very frequent

- Alopecia
- Autosomal recessive inheritance
- Muscle weakness / flaccidity
- Myopathy
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thin / hypoplastic / hyperconvex fingernails
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent

- Enamel anomaly
- Follicular / erythematous / edematous papules / milium
- Ptosis
- Skin hypoplasia / aplasia / atrophy

Occasional

- Asthenia / fatigue / weakness
- Myasthenia