WASHC5, WASH complex subunit 5, 9897

N. diseases: 129; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease BEFREE Spastic paraplegia type 8 (SPG8) is an autosomal-dominant form of hereditary spastic paraplegia (AD-HSP) caused by a mutation in the KIAA0196 gene. 31814071 2020
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.010 GeneticVariation disease BEFREE The 4 known diseases were Opitz G/BBB syndrome caused by MID1 gene mutation, Loeys‑Dietz syndrome caused by TGFBR1 gene mutation, Ritscher‑Schinzel/3C syndrome caused by KIAA0196 gene mutation and CHARGE syndrome caused by CHD7 gene mutation. 30896870 2019
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease BEFREE To our knowledge, it's the first frame delete mutation causing shift mutation of KIAA0196 gene, resulting in the earliest onset of SPG8 in the world. 29768361 2018
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease BEFREE The N471D and several other point mutations of human strumpellin (Str; also known as WASHC5), a member of the Wiskott-Aldrich syndrome protein and SCAR homologue (WASH) complex, have been shown to cause a form of HSP known as spastic paraplegia 8 (SPG8). 30061306 2018
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.050 GeneticVariation disease BEFREE The N471D and several other point mutations of human strumpellin (Str; also known as WASHC5), a member of the Wiskott-Aldrich syndrome protein and SCAR homologue (WASH) complex, have been shown to cause a form of HSP known as spastic paraplegia 8 (SPG8). 30061306 2018
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker disease GENOMICS_ENGLAND Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. 27164712 2016
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.060 GeneticVariation disease BEFREE We describe the clinical and genetic findings in our patient with SPG8, which is a rare dominant hereditary spastic paraplegia. 26967522 2016
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.010 Biomarker disease BEFREE Furthermore, a mutation in the WASH component KIAA0196 (strumpellin) is associated with hypercholesterolaemia in humans. 26965651 2016
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 Biomarker disease GENOMICS_ENGLAND Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. 24916641 2015
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease BEFREE A total of nine mutations in KIAA0196, which encodes the WASH regulatory complex (SHRC) member strumpellin, have been reported in SPG8 patients so far. 26572744 2015
CUI: C4551776
Disease: RITSCHER-SCHINZEL SYNDROME 1
RITSCHER-SCHINZEL SYNDROME 1 		0.400 Biomarker disease GENOMICS_ENGLAND Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. 24916641 2015
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.060 GeneticVariation disease BEFREE The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8. 26572744 2015
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.050 Biomarker disease BEFREE SPG8 is a dominantly inherited HSP, and associated with rather early onset and rapid progression. 26572744 2015
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.020 GeneticVariation disease BEFREE A recent study of a Canadian cohort identified homozygous sequence variants in the KIAA0196 gene, which encodes the WASH complex subunit strumpellin, as a cause for a form of RSS/3C syndrome. 24916641 2015
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.020 GeneticVariation disease BEFREE A recent study of a Canadian cohort identified homozygous sequence variants in the KIAA0196 gene, which encodes the WASH complex subunit strumpellin, as a cause for a form of RSS/3C syndrome. 24916641 2015
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease UNIPROT A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8. 25454649 2014
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.110 GeneticVariation disease GWASCAT C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. 24931836 2014
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.100 GeneticVariation disease GWASCAT C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. 24931836 2014
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.060 Biomarker disease BEFREE A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8. 25454649 2014
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.050 GeneticVariation disease BEFREE We present a novel strumpellin alteration in a small family with clinically pure HSP. 25454649 2014
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease UNIPROT Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. 23881105 2013
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 CausalMutation disease CLINVAR A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 24065355 2013
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease UNIPROT Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. 23455931 2013
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease CLINVAR A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 24065355 2013
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease UNIPROT The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function. 23085491 2013