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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
43 signs/symptoms
Semantic dementia
Hutchinson-Gilford progeria syndrome

C9ORF72 LMNA
CHMP2B ZMPSTE24
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
(0.63)
LMNA



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Hutchinson-Gilford progeria syndrome
LMNA ZMPSTE24



Semantic dementia
Hutchinson-Gilford progeria syndrome

Synonym(s):
- Semantic primary progressive aphasia
- Semantic variant PPA

Synonym(s):
- Progeria

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

Hutchinson-Gilford progeria 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
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Late puberty / hypogonadism / hypogenitalism
- Micrognathia / retrognathia / micrognathism / retrognathism
- 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
- Large fontanelle / delayed fontanelle closure
- 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


Semantic dementia

(no data available)