Details of Disease

General Information of Disease (ID: DIS25W9X)

Disease Name Hereditary spastic paraplegia 47
Synonyms
spastic paraplegia 47, autosomal recessive; cerebral palsy, spastic quadriplegic, 5; cerebral palsy, spastic quadriplegic, 5, formerly; AP4B1 hereditary spastic paraplegia; spastic quadriplegic cerebral palsy 5; autosomal recessive spastic paraplegia 47; Spastic Paraplegia 47; SPG47; CPSQ5; hereditary spastic paraplegia caused by mutation in AP4B1; hereditary spastic paraplegia type 47; hereditary spastic paraplegia 47
Definition Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.
Disease Hierarchy
DISGZQV1: Hereditary spastic paraplegia
DIS25W9X: Hereditary spastic paraplegia 47
Disease Identifiers
MONDO ID
MONDO_0013551
UMLS CUI
C3279738
OMIM ID
614066
MedGen ID
481368

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AP4B1 OTGJUIRA Strong Autosomal recessive [1]
AP4M1 OT2BG2Z3 Definitive Genetic Variation [2]
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References

1 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet. 2011 Jun 10;88(6):788-795. doi: 10.1016/j.ajhg.2011.04.019. Epub 2011 May 27.
2 Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47).Stem Cell Res. 2019 Oct;40:101575. doi: 10.1016/j.scr.2019.101575. Epub 2019 Sep 11.