Details of Disease

General Information of Disease (ID: DISYA1OJ)

Disease Name Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
Synonyms Zain Syndrome; AMCNACC; arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum
Disease Hierarchy
DISMCQP6: Arthrogryposis multiplex congenita
DISYA1OJ: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
Disease Identifiers
MONDO ID
MONDO_0032903
UMLS CUI
C5231494
OMIM ID
618766
MedGen ID
1684706

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SCYL2 OTQI8R56 Strong Autosomal recessive [1]
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References

1 SCYL2 Protects CA3 Pyramidal Neurons from Excitotoxicity during Functional Maturation of the Mouse Hippocampus. J Neurosci. 2015 Jul 22;35(29):10510-22. doi: 10.1523/JNEUROSCI.2056-14.2015.