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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

Desmoid tumor

1 OMIM reference -
2 associated genes
21 signs/symptoms

Congenital muscular dystrophy due to LMNA mutation

Desmoid tumor

LMNA	(UniProt - OMIM)		APC	(UniProt - OMIM)
			CTNNB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.63)	CTNNB1

Citations in the biomedical literature:

Congenital muscular dystrophy due to LMNA mutation		Desmoid tumor
	Synonym(s): - L-CMD - LMNA-related congenital muscular dystrophy		Synonym(s): - Aggressive fibromatosis - Desmoid type fibromatosis

	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: neonatal/infancy Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: sporadic

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


COMMON SIGNS	- Restricted joint mobility / joint stiffness / ankylosis

Congenital muscular dystrophy due to LMNA mutation		Desmoid tumor
	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 - 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 - Anomalies of the abdominal wall - Fibromatosis / bone fibroma - Muscle anomalies - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Acute abdominal pain / colic - Myalgia / muscular pain - Polyposis of the bowel / colon / intestine Occasional - Articular / joint pain / arthralgia - Bladder and ureter anomalies - Early death / lethality - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Intestinal obstruction / ileus - Malabsorption / chronic diarrhea / steatorrhea - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Osteolysis / osteoclasia / bone destruction / erosions - Retinitis pigmentosa / retinal pigmentary changes - Sepsis severe / septicemia - Skin tumors / lumps / epidermal cysts - Thoracic / chest pain