ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
16 signs/symptoms

Autosomal dominant limb-girdle muscular dystrophy type 1B

Greenberg dysplasia


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

Citations in the biomedical literature:

Autosomal dominant limb-girdle muscular dystrophy type 1B		Greenberg dysplasia
	Synonym(s): - LGMD1B - Limb-girdle muscular dystrophy due to lamin A/C deficiency		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: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood 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: 1 OMIM reference - 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 limb-girdle muscular dystrophy type 1B
(no data available)