ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
29 signs/symptoms

Autosomal dominant limb-girdle muscular dystrophy type 1B

SjÃ¶gren-Larsson syndrome


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

Citations in the biomedical literature:

Autosomal dominant limb-girdle muscular dystrophy type 1B		SjÃ¶gren-Larsson syndrome
	Synonym(s): - LGMD1B - Limb-girdle muscular dystrophy due to lamin A/C deficiency		Synonym(s): - Fatty acid alcohol oxidoreductase deficiency

	Classification (Orphanet): - Rare cardiac disease - 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: 1-9 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		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

SjÃ¶gren-Larsson syndrome
	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 - Intellectual deficit / mental / psychomotor retardation / learning disability - 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 - Hypotonia - Microcephaly - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Short stature / dwarfism / nanism - Urticaria
Autosomal dominant limb-girdle muscular dystrophy type 1B
(no data available)