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Hutchinson-Gilford progeria syndrome
1 OMIM reference -
2 associated genes
43 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Sjögren-Larsson syndrome
1 OMIM reference -
1 associated gene
29 signs/symptoms
Hutchinson-Gilford progeria syndrome
Sjögren-Larsson syndrome

LMNA
(UniProt - OMIM)
 ALDH3A2
(UniProt - OMIM)
ZMPSTE24
(UniProt - OMIM)

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


Citations in the biomedical literature:


Hutchinson-Gilford progeria syndrome
LMNA ZMPSTE24
Sjögren-Larsson syndrome
ALDH3A2



Hutchinson-Gilford progeria syndrome
Sjögren-Larsson syndrome

Synonym(s):
- Progeria
Synonym(s):
- Fatty acid alcohol oxidoreductase deficiency
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: 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 -
1 MeSH reference: D011371
External references:
1 OMIM reference -
1 MeSH reference: D016111
COMMON
SIGNS 		- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Short stature / dwarfism / nanism

Hutchinson-Gilford progeria syndrome
Sjögren-Larsson syndrome

Very frequent
- Abnormal fat distribution / lipodystrophy
- Alopecia
- Anodontia / oligodontia / hypodontia
- Asthenia / fatigue / weakness
- Decreased body hair / axillar / pubic hairlessness
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Early death / lethality
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Late puberty / hypogonadism / hypogenitalism
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow face
- Premature ageing
- Proptosis / exophthalmos
- Skull / cranial anomalies
- Terminal / third phalangeal bone of fingers hypoplasia
- Thin skin
- Thin / hypoplastic toenails
- Thin / hypoplastic / hyperconvex fingernails
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal gait
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Angor pectoris / myocardial infarction
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of teeth and dentition
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Beaked nose
- Clavicle absent / abnormal
- External ear anomalies
- Global upper and lower limbs anomalies
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Large fontanelle / delayed fontanelle closure
- Osteolysis / osteoclasia / bone destruction / erosions
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Rippled skin
- Thin / retracted lips
- Tight skin / lack of elasticity

Occasional
- Articular / joint pain / arthralgia
- Nephrosclerosis


Very frequent
- Autosomal recessive inheritance
- Dry / squaly skin / exfoliation
- 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
- Urticaria