ODCs

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Hutchinson-Gilford progeria syndrome

1 OMIM reference -
2 associated genes
43 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Wolf-Hirschhorn syndrome

1 OMIM reference -
3 associated genes
79 signs/symptoms

Hutchinson-Gilford progeria syndrome

Wolf-Hirschhorn syndrome

LMNA	(UniProt - OMIM)	LETM1	(UniProt - OMIM)
ZMPSTE24	(UniProt - OMIM)	NELFA	(UniProt - OMIM)
		WHSC1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.63)	WHSC1

Citations in the biomedical literature:

Hutchinson-Gilford progeria syndrome		Wolf-Hirschhorn syndrome
	Synonym(s): - Progeria		Synonym(s): - 4p- syndrome - Distal deletion 4p - Distal monosomy 4p - Telomeric deletion 4p

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease - Rare surgical thoracic 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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: adult Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: D011371		External references: 1 OMIM reference - 2 MeSH references: C536740 / D054877


COMMON SIGNS	- Anodontia / oligodontia / hypodontia - Failure to thrive / difficulties for feeding in infancy / growth delay - Micrognathia / retrognathia / micrognathism / retrognathism - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Proptosis / exophthalmos

Hutchinson-Gilford progeria syndrome		Wolf-Hirschhorn syndrome
	Very frequent - Abnormal fat distribution / lipodystrophy - Alopecia - 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 - 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 - Large fontanelle / delayed fontanelle closure - Osteolysis / osteoclasia / bone destruction / erosions - 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 mouth, lip and philtrum - Ataxia / incoordination / trouble of the equilibrium - Broad nose / nasal bridge - Dolichocephaly / scaphocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Downturned mouth - Epicanthic folds - Fetal immobility / abnormal fetal movements - Frontal bossing / prominent forehead - High arched eyebrows - High forehead - High hair line (front) / widow peak - Hypertelorism - Hypospadias / epispadias / bent penis - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Low set ears / posteriorly rotated ears - Microcephaly - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Seizures / epilepsy / absences / spasms / status epilepticus - Short philtrum Frequent - Abnormal vertebral size / shape - Anomalies of chest / thorax / trunk - Anomalies of hands - Anomalies of spine, vertebrae and pelvis - Atrial septal defect / interauricular communication - Big toe anomaly (excluding absence) - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Cardiac septal defect - Cardiac valvulopathy - Cleft lip and palate - Coloboma of iris - Congenital cardiac anomaly / malformation / cardiopathy - Delayed bone age - Diaphragmatic hernia / defect / agenesis - Foot anomalies - Hearing loss / hypoacusia / deafness - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Kyphosis - Long hand / arachnodactyly - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Ptosis - Renal / kidney anomalies - Rib number anomalies - Sacral sinus / dimple - Scalp / skull defect - Scoliosis - Talipes-varus / metatarsal varus - Thumb duplication / distal bifid thumb phalangeal bone - Thumb hypoplasia / aplasia / absence - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Anomalies of the immunitary system - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Chronic / relapsing otitis - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Corpus callosum / septum pellucidum total / partial agenesis - Gallbladder / common bile duct anomalies - Herniae - Hypoplastic / absent nipples - Long limbs / dolichostenomelia - Megalocornea - Movement disorder - Nystagmus - Repeat respiratory infections - Retinopathy - Sclerocornea - Situs inversus visceralis / colon / intestine trasposition / heterotaxia - Stillbirth / neonatal death - Strabismus / squint - Structural anomalies of the genital system - Structural anomalies of the kidney and the urinary tract