ODCs

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Congenital muscular dystrophy due to LMNA mutation

1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Buschke-Ollendorff syndrome

1 OMIM reference -
1 associated gene
33 signs/symptoms

Congenital muscular dystrophy due to LMNA mutation

Buschke-Ollendorff syndrome

LMNA

(UniProt - OMIM)

LEMD3

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.49)	LEMD3

Citations in the biomedical literature:

Congenital muscular dystrophy due to LMNA mutation		Buschke-Ollendorff syndrome
	Synonym(s): - L-CMD - LMNA-related congenital muscular dystrophy		Synonym(s): - Disseminated dermatofibrosis with osteopoikilosis

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Diseases of the nervous system -		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: sporadic		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537415


COMMON SIGNS	- Contractures / cramps / trismus / tetania / claudication / opisthotonos

Congenital muscular dystrophy due to LMNA mutation		Buschke-Ollendorff syndrome
	Very frequent - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Anomalies of the neck - Muscle weakness / flaccidity Frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal gait - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Lordosis - Motor deficit / trouble - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Myopathy - Psychic / psychomotor regression / dementia / intellectual decline - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis - Rigid spine Occasional - Ankle anomalies - Cardiac rhythm disorder / arrhythmia - Death in infancy - Fetal immobility / abnormal fetal movements - Heart / cardiac failure - Hyperextensible joints / articular hyperlaxity - Narrow rib cage / thorax - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anomalies of bones / skeletal anomalies - Autosomal dominant inheritance - Bone pain - Diabetes mellitus - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Follicular / erythematous / edematous papules / milium - Hearing loss / hypoacusia / deafness - Hyperostosis - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Metaphyseal anomaly - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Osteosclerosis / osteopetrosis / bone condensation - Sarcoma - Short stature / dwarfism / nanism - Visual loss / blindness / amblyopia Frequent - Mediastinal / hilar adenopathies - Strabismus / squint Occasional - Abnormal scarring / cheloids / hypertrophic scars - Arthritis / synovitis / synovial proliferation - Articular / joint pain / arthralgia - Diaphyseal anomaly - Insulin-dependent / type 1 diabetes - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Mutiple fractures / bone fragility - Myalgia / muscular pain - Palmoplantar hyperkeratosis / keratoderma - Pigmented naevi / naevus pigmentosus / lentigo - Subcutaneous nodules / lipomas / tumefaction / swelling