ODCs

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Greenberg dysplasia

1 OMIM reference -
1 associated gene
16 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Congenital muscular dystrophy due to LMNA mutation

1 OMIM reference -
1 associated gene
25 signs/symptoms

Greenberg dysplasia

Congenital muscular dystrophy due to LMNA mutation

LBR

(UniProt - OMIM)

LMNA

(UniProt - OMIM)


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

Citations in the biomedical literature:

Greenberg dysplasia		Congenital muscular dystrophy due to LMNA mutation
	Synonym(s): - Hydrops - ectopic calcification - motheaten - Skeletal dysplasia, Greenberg type		Synonym(s): - L-CMD - LMNA-related congenital muscular dystrophy

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

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


COMMON SIGNS	- Narrow rib cage / thorax

Greenberg dysplasia		Congenital muscular dystrophy due to LMNA mutation
	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 - Poorly ossified skull / calvarium - Scalp / skull defect		Very frequent - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Anomalies of the neck - Muscle weakness / flaccidity Frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal gait - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Lordosis - Motor deficit / trouble - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Myopathy - Psychic / psychomotor regression / dementia / intellectual decline - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis - Rigid spine Occasional - Ankle anomalies - Cardiac rhythm disorder / arrhythmia - Death in infancy - Fetal immobility / abnormal fetal movements - Heart / cardiac failure - Hyperextensible joints / articular hyperlaxity - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy