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Hutchinson-Gilford progeria syndrome
1 OMIM reference -
2 associated genes
43 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7
12q14 microdeletion syndrome
2 associated genes
32 signs/symptoms
Hutchinson-Gilford progeria syndrome
12q14 microdeletion syndrome

LMNA
(UniProt - OMIM)
 HMGA2
(UniProt - OMIM)
ZMPSTE24
(UniProt - OMIM)
 LEMD3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LMNA
(0.49)
LEMD3


Citations in the biomedical literature:


Hutchinson-Gilford progeria syndrome
LMNA ZMPSTE24
12q14 microdeletion syndrome
HMGA2 LEMD3



Hutchinson-Gilford progeria syndrome
12q14 microdeletion syndrome

Synonym(s):
- Progeria
Synonym(s):
- Del(12)(q14)
- Deletion 12q14
- Monosomy 12q14
- Osteopoikilosis - short stature - intellectual deficit
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 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: childhood
Average age of death: -
Type of inheritance: unknown
External references:
1 OMIM reference -
1 MeSH reference: D011371
External references:
No OMIM references
No MeSH references
COMMON
SIGNS 		- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Anodontia / oligodontia / hypodontia
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short stature / dwarfism / nanism
- Thin / retracted lips

Hutchinson-Gilford progeria syndrome
12q14 microdeletion 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
- Proptosis / exophthalmos
- 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
- 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
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Rippled skin
- Tight skin / lack of elasticity

Occasional
- Articular / joint pain / arthralgia
- Nephrosclerosis


Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Tremor

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Arnold-Chiari anomaly
- Asplenia / polysplenia / spleen lobulation / accessory spleen
- Broad nose / nasal bridge
- Clinodactyly of fifth finger
- Deepset eyes / enophthalmos
- Diabetes mellitus
- Downturned mouth
- Ectopic / horseshoe / fused kidneys
- Frontal bossing / prominent forehead
- High nasal bridge
- Hypotonia
- Intestinal / gut / bowel malrotation
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Scoliosis
- Small / triangular nares / nostrils
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Synophris / synophrys
- Syringomelia
- Thick / bushy eyebrows
- Triangular face