DDHD1, DDHD domain containing 1, 80821

N. diseases: 38; N. variants: 0
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
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.330 Biomarker disease BEFREE Deleterious mutations in the serine hydrolase DDHD domain containing 1 (DDHD1) cause the SPG28 subtype of the neurological disease hereditary spastic paraplegia (HSP), which is characterized by axonal neuropathy and gait impairments. 30221923 2018
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.330 Biomarker disease BEFREE The human PAPLA1 phospholipase family is associated with hereditary spastic paraplegia (HSP), a neurodegenerative syndrome characterized by progressive spasticity and weakness of the lower limbs. 28422159 2017
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.330 GeneticVariation disease BEFREE Mutations in DDHD1 cause the SPG28 subtype of hereditary spastic paraplegia (HSP). 26944165 2016
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.330 Biomarker disease GENOMICS_ENGLAND Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). 15786464 2005
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.300 Biomarker disease CTD_human We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry. 31209396 2019
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.300 Biomarker disease GENOMICS_ENGLAND Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. 23176821 2012
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.140 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: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.140 Biomarker disease BEFREE The Spastic Paraplegia-Associated Phospholipase DDHD1 Is a Primary Brain Phosphatidylinositol Lipase. 30221923 2018
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.140 GeneticVariation disease BEFREE Spastic paraplegia (SPG) type 28 is an autosomal recessive SPG caused by mutations in the DDHD1 gene. 27216551 2016
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.140 Biomarker disease BEFREE Autosomal recessive spastic paraplegias (ARHSPs) usually have clinically complex phenotypes but the SPG5, SPG24, and SPG28 loci are considered to be associated with pure forms of the disease. 17503452 2007
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.140 Biomarker disease HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 Biomarker phenotype HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C0231687
Disease: Spastic gait
Spastic gait 		0.100 Biomarker phenotype HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO