ODCs

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SjÃ¶gren-Larsson syndrome

1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Lethal restrictive dermopathy

1 OMIM reference -
2 associated genes
40 signs/symptoms

SjÃ¶gren-Larsson syndrome

Lethal restrictive dermopathy

ALDH3A2	(UniProt - OMIM)		LMNA	(UniProt - OMIM)
			ZMPSTE24	(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		Lethal restrictive dermopathy
	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 developmental defect during embryogenesis - Rare genetic 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal recessive inheritance - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Kyphosis - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis

SjÃ¶gren-Larsson syndrome		Lethal restrictive dermopathy
	Very frequent - Dry / squaly skin / exfoliation - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Ichthyosis / ichthyosiform dermatitis - Intellectual deficit / mental / psychomotor retardation / learning disability - 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 - Short stature / dwarfism / nanism - Urticaria		Very frequent - Absent / decreased lashes - Anomalies of teeth and dentition - Early death / lethality - Ectropion / entropion / eyelid eversion - External ear anomalies - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Large fontanelle / delayed fontanelle closure - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Microstomia / little mouth - Mouth held open - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rough trabeculation of bone - Short / small nose - Stillbirth / neonatal death - Thick skin / pachydermia / orange skin - Tight skin / lack of elasticity Frequent - Adrenal glands anomalies - Anomalies of chest / thorax / trunk - Anomalies of eyelids, eyelashes and lacrimal system - Atrial septal defect / interauricular communication - Bladder and ureter anomalies - Blepharophimosis / short palpebral fissures - Clavicle absent / abnormal - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Complete claw hand / camptodactyly of all fingers - Diaphyseal anomaly - Eyebrows anomalies - Hypospadias / epispadias / bent penis - Lanugo - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Patent ductus arteriosus - Polyhydramnios Occasional - Aortic root dilatation / dilation / aneurysm - Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus