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Hutchinson-Gilford progeria syndrome
1 OMIM reference -
2 associated genes
43 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
3C syndrome
1 OMIM reference -
1 associated gene
64 signs/symptoms
Hutchinson-Gilford progeria syndrome
3C syndrome

LMNA
(UniProt - OMIM)
 KIAA0196
(UniProt - OMIM)
ZMPSTE24
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LMNA
(0.63)
KIAA0196


Citations in the biomedical literature:


Hutchinson-Gilford progeria syndrome
LMNA ZMPSTE24
3C syndrome
KIAA0196



Hutchinson-Gilford progeria syndrome
3C syndrome

Synonym(s):
- Progeria
Synonym(s):
- Craniocerebellocardiac dysplasia
- Ritscher-Schinzel 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 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: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D011371
External references:
1 OMIM reference -
1 MeSH reference: C535313
COMMON
SIGNS 		- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Large fontanelle / delayed fontanelle closure
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short stature / dwarfism / nanism
- Thin / hypoplastic / hyperconvex fingernails

Hutchinson-Gilford progeria syndrome
3C 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
- Skull / cranial anomalies
- Terminal / third phalangeal bone of fingers hypoplasia
- Thin skin
- Thin / hypoplastic toenails
- 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
- 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 recessive inheritance
- Broad nasal root
- Dandy-Walker anomaly
- Frontal bossing / prominent forehead
- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Atrial septal defect / interauricular communication
- Atrioventricular canal
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Death in infancy
- Depressed nasal bridge
- Dilated cerebral ventricles without hydrocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- High vaulted / narrow palate
- Hydrocephaly
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypoplastic left heart / ventricle
- Kyphosis
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Motor deficit / trouble
- Prominent occiput / occipital bossing
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Repeat respiratory infections
- Scoliosis
- Short / small nose
- Tetralogy of Fallot / trilogy of Fallot
- Tricuspid valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Ventricular septal defect / interventricular communication

Occasional
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anus ectopia / anteposition / malposition
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Cleft lip and palate
- Coloboma of iris
- Cortico-adrenal hypoplasia / insufficiency
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Glaucoma
- Hypoplastic / absent nipples
- Hypospadias / epispadias / bent penis
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Inguinal / inguinoscrotal / crural hernia
- Intestinal / gut / bowel malrotation
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Micropenis / small penis / agenesis
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Preauricular / branchial tags / appendages
- Retinoschisis / retinal / chorioretinal coloboma
- Rib number anomalies
- Short hand / brachydactyly
- Short neck
- Single umbilical artery
- Syndactyly of fingers / interdigital palm
- Upper limb polydactyly / hexadactyly
- Vertebral segmentation anomaly / hemivertebrae