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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
22 signs/symptoms
Progeria-associated arthropathy
Developmental malformations - deafness - dystonia

LMNA ACTB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.52)
ACTB



Citations in the biomedical literature:


Progeria-associated arthropathy
LMNA
Developmental malformations - deafness - dystonia
ACTB



Progeria-associated arthropathy
Developmental malformations - deafness - dystonia

Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown

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

Developmental malformations - deafness - dystonia

Very frequent
- Autosomal dominant inheritance
- Cleft lip and palate
- Dystonia / torticollis / writer's cramp / blepharospasms
- Early death in adulthood
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Functional colopathy / irritable bowel syndrome
- High forehead
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia
- Psychic / psychomotor regression / dementia / intellectual decline
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Scoliosis
- Sensorineural deafness / hearing loss
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Cataract / lens opacification
- Visual loss / blindness / amblyopia



Progeria-associated arthropathy

(no data available)