Details of Disease

General Information of Disease (ID: DISCCZ2O)

Disease Name Hereditary spastic paraplegia 50
Synonyms
cerebral palsy, spastic quadriplegic, 3, formerly; cerebral palsy, spastic quadriplegic, 3; spastic paraplegia 50, autosomal recessive; hereditary spastic paraplegia type 50; AP4M1 hereditary spastic paraplegia; SPG50; hereditary spastic paraplegia caused by mutation in AP4M1; autosomal recessive spastic paraplegia 50; Spastic Paraplegia 50
Definition Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.
Disease Hierarchy
DISGZQV1: Hereditary spastic paraplegia
DISCCZ2O: Hereditary spastic paraplegia 50
Disease Identifiers
MONDO ID
MONDO_0013048
MESH ID
C567858
UMLS CUI
C2752008
OMIM ID
612936
MedGen ID
442869

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
AP4M1 OT2BG2Z3 Strong Autosomal recessive [1]
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References

1 Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features. Am J Med Genet A. 2014 Jul;164A(7):1677-85. doi: 10.1002/ajmg.a.36514. Epub 2014 Apr 3.