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8 OMIM references -
11 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
16 signs/symptoms
Brugada syndrome
Greenberg dysplasia

CACNA1C LBR
CACNB2
GPD1L
HCN4
KCND3
KCNE3
KCNJ8
SCN1B
SCN3B
SCN5A
TRPM4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KCND3
(0.63)
LBR



Citations in the biomedical literature:


Brugada syndrome
CACNA1C CACNB2 GPD1L HCN4 KCND3 KCNE3
KCNJ8 SCN1B SCN3B SCN5A TRPM4
Greenberg dysplasia
LBR



Brugada syndrome
Greenberg dysplasia

Synonym(s):
- Bangungut
- Dream disease
- Idiopathic ventricular fibrillation, Brugada type
- Pokkuri death syndrome
- SUNDS
- Sudden unexplained nocturnal death syndrome

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

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

Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
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:
8 OMIM references -
1 MeSH reference: D053840
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



Brugada syndrome

(no data available)