ODCs

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Hutchinson-Gilford progeria syndrome

1 OMIM reference -
2 associated genes
43 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 13

Mandibuloacral dysplasia with type B lipodystrophy

1 OMIM reference -
1 associated gene
25 signs/symptoms

Hutchinson-Gilford progeria syndrome

Mandibuloacral dysplasia with type B lipodystrophy

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


COMMON GENES	ZMPSTE24

Citations in the biomedical literature:

Hutchinson-Gilford progeria syndrome		Mandibuloacral dysplasia with type B lipodystrophy
	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 bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare skin 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D011371		External references: 1 OMIM reference - 1 MeSH reference: C535706


COMMON SIGNS	- Abnormal fat distribution / lipodystrophy - Anomalies of teeth and dentition - Beaked nose - Clavicle absent / abnormal - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Large fontanelle / delayed fontanelle closure - Late puberty / hypogonadism / hypogenitalism - Osteolysis / osteoclasia / bone destruction / erosions - Premature ageing - Proptosis / exophthalmos - Short stature / dwarfism / nanism - Terminal / third phalangeal bone of fingers hypoplasia - Thin skin

Hutchinson-Gilford progeria syndrome		Mandibuloacral dysplasia with type B lipodystrophy
	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 - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow face - Skull / cranial anomalies - 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 - Arterial atheroma / precocious atherosclerosis / arteriosclerosis - External ear anomalies - Global upper and lower limbs anomalies - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - 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 - Anomalies of bones / skeletal anomalies - Hypoplastic mandibula / partial absence of the mandibula - Microstomia / little mouth Frequent - Abnormal scarring / cheloids / hypertrophic scars - Hair and scalp anomalies - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Irregular / in bands / reticular skin hyperpigmentation - Nails anomalies - Periarticular tissue anomaly / extraarticular calcifications - Short / small nose - Skin hypoplasia / aplasia / atrophy