ODCs

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Hutchinson-Gilford progeria syndrome

1 OMIM reference -
2 associated genes
43 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

Familial partial lipodystrophy, KÃ¶bberling type

1 OMIM reference -
1 associated gene
15 signs/symptoms

Hutchinson-Gilford progeria syndrome

Familial partial lipodystrophy, KÃ¶bberling type

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


COMMON GENES	LMNA

Citations in the biomedical literature:

Hutchinson-Gilford progeria syndrome		Familial partial lipodystrophy, KÃ¶bberling type
	Synonym(s): - Progeria		Synonym(s): - FPLD1 - Familial partial lipodystrophy type 1

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic 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 / 1 000 000 Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Abnormal fat distribution / lipodystrophy - Angor pectoris / myocardial infarction

Hutchinson-Gilford progeria syndrome		Familial partial lipodystrophy, KÃ¶bberling type
	Very frequent - 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 - Short stature / dwarfism / nanism - 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 - 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 - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Nephrosclerosis		Very frequent - Autosomal dominant inheritance - Chronic arterial hypertension - Diabetes mellitus - Hyperinsulinism / hyperinsulinemia - Insulin resistance - Insulin-dependent / type 1 diabetes - Lipoatrophy Frequent - Abnormal / polycystic ovaries - Acanthosis nigricans - Hepatomegaly / liver enlargement (excluding storage disease) - Liver / hepatic steatosis - Xanthomas / lipomas Occasional - Pancreatitis