DDHD1, DDHD domain containing 1, 80821

N. diseases: 38; N. variants: 0
Disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836295
Disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder) 		0.620 GeneticVariation disease BEFREE Reactive oxygen species production in DDHD2 knockout cells was reversed by the expression of wild-type DDHD2, but not by an active-site DDHD2 mutant, DDHD2 mutants related to hereditary spastic paraplegia, or DDHD1, another member of the intracellular phospholipase A<sub>1</sub> family whose mutation also causes spastic paraplegia (SPG28). 30038238 2018
CUI: C1836295
Disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder) 		0.620 GeneticVariation disease BEFREE We conclude that the novel mutation in DDHD1 is the causative variant for the SPG28 patient that is the first record of the disease in Japanese population. 27216551 2016
CUI: C1836295
Disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder) 		0.620 Biomarker disease GENOMICS_ENGLAND Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28. 26944165 2016
CUI: C1836295
Disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder) 		0.620 GermlineCausalMutation disease ORPHANET Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. 23176821 2012
CUI: C1836295
Disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder) 		0.620 Biomarker disease GENOMICS_ENGLAND
CUI: C1836295
Disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder) 		0.620 Biomarker disease CTD_human