ODCs

Click node...

Congenital muscular dystrophy due to LMNA mutation

1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

SjÃ¶gren-Larsson syndrome

1 OMIM reference -
1 associated gene
29 signs/symptoms

Congenital muscular dystrophy due to LMNA mutation

SjÃ¶gren-Larsson syndrome

LMNA

(UniProt - OMIM)

ALDH3A2

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.49)	ALDH3A2

Citations in the biomedical literature:

Congenital muscular dystrophy due to LMNA mutation		SjÃ¶gren-Larsson syndrome
	Synonym(s): - L-CMD - LMNA-related congenital muscular dystrophy		Synonym(s): - Fatty acid alcohol oxidoreductase deficiency

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D016111


COMMON SIGNS	- Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Restricted joint mobility / joint stiffness / ankylosis

Congenital muscular dystrophy due to LMNA mutation		SjÃ¶gren-Larsson 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 - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Failure to thrive / difficulties for feeding in infancy / growth delay - 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 - Autosomal recessive inheritance - Dry / squaly skin / exfoliation - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hemiplegia / diplegia / hemiparesia / limb palsy - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypertonia / spasticity / rigidity / stiffness - Ichthyosis / ichthyosiform dermatitis - Kyphosis - Pyramidal syndrome Frequent - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Corneal ulceration / perforation - Diffuse / generalised skin hyperpigmentation / melanoderma - Elocution disorders / dysarthria / dysphonia - Macular dystrophy / absence / hypoplasia of the macula - Myopia - Photophobia - Retinitis pigmentosa / retinal pigmentary changes - Retinopathy - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Enamel anomaly - Microcephaly - Scoliosis - Short stature / dwarfism / nanism - Urticaria