AMC1, neurogenic, with myelin defect [DS:H02358] AMC2, neurogenic type AMC3, myogenic type AMC4, neurogenic, with agenesis of the corpus callosum AMC5 AMC6
Description
Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by non-progressive joint contractures from birth. There are various etiologies for AMC including genetic and environmental depends on the specific type. It has been reported that mutations in ERGIC1 cause AMC neuropathic type. ERGIC1 encodes a membrane protein which has a possible role in transport between endoplasmic reticulum and Golgi.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD26 Syndromes with limb anomalies as a major feature
H02299 Arthrogryposis multiplex congenita
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H02299 Arthrogryposis multiplex congenita
Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerriere A, Reversade B, Melki J
Title
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Seidahmed MZ, Al-Kindi A, Alsaif HS, Miqdad A, Alabbad N, Alfifi A, Abdelbasit OB, Alhussein K, Alsamadi A, Ibrahim N, Al-Futaisi A, Al-Maawali A, Alkuraya FS
Title
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
