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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
16 signs/symptoms
Laminopathy type Decaudain-Vigouroux
Greenberg dysplasia

LMNA LBR


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Laminopathy type Decaudain-Vigouroux
LMNA
Greenberg dysplasia
LBR



Laminopathy type Decaudain-Vigouroux
Greenberg dysplasia

Synonym(s):
- Laminopathy with severe metabolic syndrome and myopathy

Synonym(s):
- Hydrops - ectopic calcification - motheaten
- Skeletal dysplasia, Greenberg type

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537299

Greenberg dysplasia

Very frequent
- Abnormal vertebral size / shape
- Abnormal / absent ossification
- Autosomal recessive inheritance
- Lymphedema
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Red cell disorders
- Rhizomelic micromelia
- Rib structure anomalies
- Short hand / brachydactyly
- Short stature / dwarfism / nanism

Frequent
- Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Narrow rib cage / thorax
- Poorly ossified skull / calvarium
- Scalp / skull defect



Laminopathy type Decaudain-Vigouroux

(no data available)