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Greenberg dysplasia

1 OMIM reference -
1 associated gene
16 signs/symptoms

PROTEIN INTERACTIONS: 1

Adult-onset autosomal dominant leukodystrophy

1 OMIM reference -
1 associated gene
21 signs/symptoms

Greenberg dysplasia

Adult-onset autosomal dominant leukodystrophy

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LBR	(0.62)	LMNB1

Citations in the biomedical literature:

Greenberg dysplasia		Adult-onset autosomal dominant leukodystrophy
	Synonym(s): - Hydrops - ectopic calcification - motheaten - Skeletal dysplasia, Greenberg type		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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

Greenberg dysplasia		Adult-onset autosomal dominant leukodystrophy
	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		Very frequent - Ataxia / incoordination / trouble of the equilibrium - Autosomal dominant inheritance - Motor deficit / trouble - Total / partial trisomy / duplication Frequent - Abnormal gait - Constipation - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Hypertonia / spasticity / rigidity / stiffness - Hypotension - Impotence / painful erection / priapism / erection troubles - Nystagmus - Sphincter dysfunction - Tremor Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Elocution disorders / dysarthria / dysphonia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hearing loss / hypoacusia / deafness - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Intellectual deficit / mental / psychomotor retardation / learning disability - Visual loss / blindness / amblyopia