ODCs

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SjÃ¶gren-Larsson syndrome

1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Mandibuloacral dysplasia with type A lipodystrophy

1 OMIM reference -
1 associated gene
28 signs/symptoms

SjÃ¶gren-Larsson syndrome

Mandibuloacral dysplasia with type A lipodystrophy

ALDH3A2

(UniProt - OMIM)

LMNA

(UniProt - OMIM)


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

Citations in the biomedical literature:

SjÃ¶gren-Larsson syndrome		Mandibuloacral dysplasia with type A lipodystrophy
	Synonym(s): - Fatty acid alcohol oxidoreductase deficiency		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D016111		External references: 1 OMIM reference - 1 MeSH reference: C535705


COMMON SIGNS	- Autosomal recessive inheritance - Hypotonia - Restricted joint mobility / joint stiffness / ankylosis - Short stature / dwarfism / nanism

SjÃ¶gren-Larsson syndrome		Mandibuloacral dysplasia with type A lipodystrophy
	Very frequent - 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 - Microcephaly - Scoliosis - Urticaria		Very frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Alopecia - Clavicle absent / abnormal - Large fontanelle / delayed fontanelle closure - Osteolysis / osteoclasia / bone destruction / erosions - Premature ageing - Skin hypoplasia / aplasia / atrophy - Terminal / third phalangeal bone of fingers hypoplasia - Wormian bones Frequent - Eyebrows anomalies - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Proptosis / exophthalmos Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Anomalies of cartilages, joints and periarticular tissue - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of teeth and dentition - Articular / joint pain / arthralgia - Breast tissue / mammary gland absence / aplasia - Cataract / lens opacification - Hearing loss / hypoacusia / deafness - High vaulted / narrow palate - Muscle anomalies - Tight skin / lack of elasticity