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AMCNMY
MCID: ART137
MIFTS: 18
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Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect (AMCNMY)
Categories:
Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases
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Aliases & Classifications for Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin...
MalaCards integrated aliases for Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect:Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset in utero most patients die in utero or in the neonatal period HPO:33
arthrogryposis multiplex congenita, neurogenic, with myelin defect:
Onset and clinical course congenital onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Anatomical: Neuronal diseases Muscle diseases |
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UniProtKB/Swiss-Prot
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76
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 : 58 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) |
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Human phenotypes related to Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect:33 (show all 24)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:617468 |
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Genes related to Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect:76
ClinVar genetic disease variations for Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect:6 (show all 16)
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Search
GEO
for disease gene expression data for Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect.
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