Cytoscape Web
Click node...


4 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
16 signs/symptoms
Autosomal dominant Emery-Dreifuss muscular dystrophy
Greenberg dysplasia

LMNA LBR
SYNE1
SYNE2
TMEM43


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Autosomal dominant Emery-Dreifuss muscular dystrophy
LMNA SYNE1 SYNE2 TMEM43
Greenberg dysplasia
LBR



Autosomal dominant Emery-Dreifuss muscular dystrophy
Greenberg dysplasia

Synonym(s):
(no synonyms)

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

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

Classification (ICD10):
- Diseases of the nervous system -
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:
4 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



Autosomal dominant Emery-Dreifuss muscular dystrophy

(no data available)