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6 OMIM references -
6 associated genes
3 signs/symptoms

PROTEIN INTERACTIONS: 1

Congenital muscular dystrophy due to LMNA mutation

1 OMIM reference -
1 associated gene
25 signs/symptoms

Neuroblastoma

Congenital muscular dystrophy due to LMNA mutation

ALK	(UniProt - OMIM)		LMNA	(UniProt - OMIM)
HACE1	(UniProt - OMIM)
LIN28B	(UniProt - OMIM)
MYCN	(UniProt - OMIM)
PHOX2B	(UniProt - OMIM)
TOP2A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TOP2A	(0.49)	LMNA

Citations in the biomedical literature:

Neuroblastoma		Congenital muscular dystrophy due to LMNA mutation
	Synonym(s): - Neural crest tumor - Sympathoblastoma		Synonym(s): - L-CMD - LMNA-related congenital muscular dystrophy

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

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

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: child / adolescent Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

	External references: 6 OMIM references - 2 MeSH references: C536408 / D009447		External references: 1 OMIM reference - No MeSH references

Neuroblastoma		Congenital muscular dystrophy due to LMNA mutation
	Very frequent - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Organic acid metabolism anomalies Frequent - Autosomal dominant inheritance		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 - Contractures / cramps / trismus / tetania / claudication / opisthotonos - 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