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arthrogryposis multiplex congenita 2, neurogenic type

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.
Uniprot Description A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMCN is due to a neurogenic defect and is characterized by congenital immobility of the limbs with fixation of multiple joints, and muscle wasting. AMCN transmission pattern is consistent with autosomal recessive inheritance in several families. Penetrance may be incomplete in females.
Disease Ontology Description A nervous system disease characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor nueron depletion that has_material_basis_in variation in the chromosome region 5q35.
Mondo Term and Equivalent IDs
MONDO:0008823:  arthrogryposis multiplex congenita 2, neurogenic type
GARD:0000790: 
MESH:C536614: 
Orphanet:1143: 
SCTID:715316005: 
UMLS:C1859721: