Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect (AMCNMY)

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OMIM 56 617468 KEGG 36 H02358 MeSH 43 D001176

MedGen 41 C4479539 CN243956 SNOMED-CT via HPO 68 111246005 11934000 12351004 128613002 16596007 17211005 202271004 202283002 202289003 24269006 246545002 249808002 258211005 27272007 275478007 29271008 313307000 32958008 349006 37280007 397932003 401138005 699222000 77016009 80825009 84757009 91175000 more

UniProtKB/Swiss-Prot : ⁷³ Arthrogryposis multiplex congenita, neurogenic, with myelin defect: A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMCNMY is an autosomal recessive severe form with onset in utero. Most affected individuals die in utero. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect.

MalaCards based summary : Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect, is also known as amcnmy. An important gene associated with Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect is LGI4 (Leucine Rich Repeat LGI Family Member 4). Related phenotypes are seizures and pulmonary hypoplasia

OMIM : ⁵⁶ AMCNMY is an autosomal recessive severe neurologic disorder with onset in utero. Most affected individuals die in utero or are subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect (summary by Xue et al., 2017). (617468)

KEGG : ³⁶ Arthrogryposis multiplex congenita, neurogenic, with myelin defect (AMCNMY) is caused by loss-of-function mutations in LGI4. LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons. The phenotypic spectrum of LGI4-related AMC varies from a most severe form with intrauterine onset resulting in utero death or termination to neonatal death to milder form with distal arthrogryposis, areflexia, developmental delay, and other variable features.

Clinical features from OMIM:

617468

Search Clinical Trials , NIH Clinical Center for Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect

Search GEO for disease gene expression data for Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect.