ODCs

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Hutchinson-Gilford progeria syndrome

1 OMIM reference -
2 associated genes
43 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Baraitser-Winter syndrome

2 OMIM references -
2 associated genes
44 signs/symptoms

Hutchinson-Gilford progeria syndrome

Baraitser-Winter syndrome

LMNA	(UniProt - OMIM)		ACTB	(UniProt - OMIM)
ZMPSTE24	(UniProt - OMIM)		ACTG1	(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		Baraitser-Winter syndrome
	Synonym(s): - Progeria		Synonym(s): - Cerebrofrontofacial syndrome type 3 - Iris coloboma-ptosis-intellectual deficit syndrome

	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 eye disease - Rare genetic disease - Rare neurologic 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: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D011371		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Failure to thrive / difficulties for feeding in infancy / growth delay - Large fontanelle / delayed fontanelle closure - Micrognathia / retrognathia / micrognathism / retrognathism - Thin / retracted lips

Hutchinson-Gilford progeria syndrome		Baraitser-Winter 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 - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Late puberty / hypogonadism / hypogenitalism - 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 - 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 - Osteolysis / osteoclasia / bone destruction / erosions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Rippled skin - Tight skin / lack of elasticity Occasional - Articular / joint pain / arthralgia - Nephrosclerosis		Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Autosomal recessive inheritance - Broad cheeks / cherub-like / cherubin face - Broad nose / nasal bridge - Coarse face - Coloboma of iris - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Epicanthic folds - Euryblepharon / wide palpebral fissures - High arched eyebrows - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Macrostomia / big mouth - Pointed chin - Prominent metopic suture - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus - Short columella / depressed nasal tip - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Telecanthus / canthal dystopy Frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Heterochromia / mixed colouring of iris - Long / large / bulbous nose - Low hair line (back) - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Microcephaly - Restricted joint mobility / joint stiffness / ankylosis - Retinoschisis / retinal / chorioretinal coloboma - Short neck - Trigonocephaly Occasional - Coloboma of the optic nerve - Microcornea - Puffy eyelids - Scoliosis - Thumb duplication / distal bifid thumb phalangeal bone - Transient cerebral ischemia / stroke - Webbed neck / pterygium colli