LRP4, LDL receptor related protein 4, 4038

N. diseases: 151; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.820 GeneticVariation disease BEFREE Variants in LRP4 have been previously associated with syndactyly in Cenani-Lenz syndactyly syndrome and Sclerosteosis 2, but have not been reported in individuals with isolated syndactyly. 29524275 2018
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.820 GeneticVariation disease BEFREE Mutations in the LRP4 3rd beta-propeller domain were previously reported to impair Wnt signaling and cause bone diseases including Cenani-Lenz syndactyly syndrome and sclerosteosis-2. 24234652 2014
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.820 GeneticVariation disease UNIPROT Mutations in the LRP4 3rd beta-propeller domain were previously reported to impair Wnt signaling and cause bone diseases including Cenani-Lenz syndactyly syndrome and sclerosteosis-2. 24234652 2014
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.820 GeneticVariation disease UNIPROT Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. 21471202 2011
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.820 CausalMutation disease CLINVAR
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.820 Biomarker disease GENOMICS_ENGLAND
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.820 Biomarker disease GENOMICS_ENGLAND
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.820 Biomarker disease MGD
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		0.780 GeneticVariation disease BEFREE Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family. 31750994 2020
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		0.780 GeneticVariation disease BEFREE Variants in LRP4 have been previously associated with syndactyly in Cenani-Lenz syndactyly syndrome and Sclerosteosis 2, but have not been reported in individuals with isolated syndactyly. 29524275 2018
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		0.780 GeneticVariation disease BEFREE These findings not only further expand the phenotypic variability of CLSS but also indicate that early truncated and loss-of-function mutations in LRP4 lead to a more severe CLSS phenotype. 28559208 2017
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		0.780 CausalMutation disease CLINVAR Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms. 28559208 2017
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		0.780 Biomarker disease BEFREE Moreover, we compared the effect of this novel variant to mutations causing Cenani-Lenz syndrome and show that impaired membrane trafficking of the LRP4 protein is the likely mechanism underlying Cenani-Lenz syndrome. 26751728 2016
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		0.780 GeneticVariation disease BEFREE Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome. 24924585 2014
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		0.780 GeneticVariation disease BEFREE Mutations in the LRP4 3rd beta-propeller domain were previously reported to impair Wnt signaling and cause bone diseases including Cenani-Lenz syndactyly syndrome and sclerosteosis-2. 24234652 2014
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		0.780 GermlineCausalMutation disease ORPHANET We report on a child with severe Cenani-Lenz syndrome caused by a novel homozygous nonsense mutation in LRP4. 23636941 2013
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		0.780 GeneticVariation disease BEFREE Recessive mutations in LRP4 have been shown to cause Cenani-Lenz syndrome, which is characterized by severe limb malformations, an unusual face, and renal abnormalities. 23636941 2013
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		0.780 GeneticVariation disease UNIPROT LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. 20381006 2010
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		0.780 GeneticVariation disease BEFREE LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. 20381006 2010
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		0.780 GermlineCausalMutation disease ORPHANET LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. 20381006 2010
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		0.780 Biomarker disease GENOMICS_ENGLAND Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome. 12868467 2003
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		0.780 Biomarker disease CTD_human
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C0265301
Disease: Sclerosteosis
Sclerosteosis 		0.740 GeneticVariation disease BEFREE Next generation sequencing of their genomic DNA using our high bone density gene panel revealed SOST1 in the teenagers caused by a unique homozygous nonsense SOST mutation (c.129C > G, p.Tyr43X) and SOST2 in the man caused by homozygosity for one of the two known homozygous missense LRP4 mutations (c.3508C > T, p.Arg1170Trp). 30077757 2018