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1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
43 signs/symptoms
Melorheostosis with osteopoikilosis
Hutchinson-Gilford progeria syndrome

LEMD3 LMNA
ZMPSTE24


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Melorheostosis with osteopoikilosis
LEMD3
Hutchinson-Gilford progeria syndrome
LMNA ZMPSTE24



Melorheostosis with osteopoikilosis
Hutchinson-Gilford progeria syndrome

Synonym(s):
- MSBD syndrome
- Mixed sclerosing bone dystrophy

Synonym(s):
- Progeria

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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 musculoskeletal system and connective tissue -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
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

Melorheostosis with osteopoikilosis
Hutchinson-Gilford progeria syndrome

Very frequent
- Cortical anomaly / thick bone cortical layer
- Osteosclerosis / osteopetrosis / bone condensation

Occasional
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Chronic arterial hypertension
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Xanthomas / lipomas


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