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1 OMIM reference -
2 associated genes
40 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
1 OMIM reference -
1 associated gene
29 signs/symptoms
Lethal restrictive dermopathy
Sjögren-Larsson syndrome

LMNA ALDH3A2
ZMPSTE24


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Lethal restrictive dermopathy
LMNA ZMPSTE24
Sjögren-Larsson syndrome
ALDH3A2



Lethal restrictive dermopathy
Sjögren-Larsson syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Fatty acid alcohol oxidoreductase deficiency

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: before age 5
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


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


Lethal restrictive dermopathy
Sjögren-Larsson syndrome

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


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