ZFIN Human Disease: hereditary spastic paraplegia 84

OBO ID: DOID:0112347

Term Name:	hereditary spastic paraplegia 84		Search Ontology:
Synonyms:	spastic paraplegia 84 autosomal recessive SPG84
Definition:	A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21. https://pubmed.ncbi.nlm.nih.gov/34415322/
References:	OMIM:619621
Ontology:	Human Disease ( DOID:0112347 )

Relationships

is a type of:	autosomal recessive disease hereditary spastic paraplegia autosomal recessive disease hereditary spastic paraplegia Show first 5 Terms

OTHER hereditary spastic paraplegia 84 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PI4KA	pi4kab pi4kaa	Spastic paraplegia 84, autosomal recessive	619621

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None