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Hutchinson-Gilford progeria syndrome

1 OMIM reference -
2 associated genes
43 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Developmental malformations - deafness - dystonia

1 OMIM reference -
1 associated gene
22 signs/symptoms

Hutchinson-Gilford progeria syndrome

Developmental malformations - deafness - dystonia

LMNA	(UniProt - OMIM)		ACTB	(UniProt - OMIM)
ZMPSTE24	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.52)	ACTB

Citations in the biomedical literature:

Hutchinson-Gilford progeria syndrome		Developmental malformations - deafness - dystonia
	Synonym(s): - Progeria		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease

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

	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 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: unknown

	External references: 1 OMIM reference - 1 MeSH reference: D011371		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Short stature / dwarfism / nanism

Hutchinson-Gilford progeria syndrome		Developmental malformations - deafness - dystonia
	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 - 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 - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Nephrosclerosis		Very frequent - Autosomal dominant inheritance - Cleft lip and palate - Dystonia / torticollis / writer's cramp / blepharospasms - Early death in adulthood - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Functional colopathy / irritable bowel syndrome - High forehead - Hypertelorism - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Macroglossia / tongue protrusion / proeminent / hypertrophic - Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia - Psychic / psychomotor regression / dementia / intellectual decline - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Sensorineural deafness / hearing loss - Short limbs / micromelia / brachymelia Frequent - Cataract / lens opacification - Visual loss / blindness / amblyopia