ZFIN Human Disease: hereditary spastic paraplegia 52

OBO ID: DOID:0110804

Term Name:	hereditary spastic paraplegia 52		Search Ontology:
Synonyms:	autosomal recessive spastic paraplegia 52 CPSQ6 spastic quadriplegic cerebral palsy 6 SPG52
Definition:	A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. https://www.ncbi.nlm.nih.gov/pubmed/21620353
References:	OMIM:614067 ORDO:280763
Ontology:	Human Disease ( DOID:0110804 )

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 52 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
AP4S1	ap4s1	Spastic paraplegia 52, autosomal recessive	614067

ZEBRAFISH MODELS

Fish	Conditions	Citations
AB + MO2-ap4s1	standard conditions	D'Amore et al., 2020
icm05Tg + MO2-ap4s1	heat exposure	D'Amore et al., 2020

PHENOTYPE No data available

CITATIONS (1)