SH3PXD2B, SH3 and PX domains 2B, 285590

N. diseases: 96; N. variants: 7
Disease: Ter Haar syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 Biomarker disease BEFREE Macro-examination of skulls from Tks4-deficient mice revealed craniofacial malformations that were very similar to symptoms of the FTHS patient. 30962481 2019
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 Biomarker disease BEFREE Our group recently showed that the Frank-ter Haar syndrome protein Tks4 (tyrosine kinase substrate with four Src homology 3 domains) is also involved in EGF signaling. 29928795 2018
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GeneticVariation disease BEFREE We report the first description of a Moroccan FTHS patient with two novel compound heterozygous mutations c.806G>A; p.Trp269* (maternal allele) and c.892delC; p.Asp299Thrfs*44 (paternal allele) in the SH3PXD2B gene. 28694206 2017
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GeneticVariation disease BEFREE Our results suggest that misfolded Frank-ter Haar syndrome protein Tks4(R43W) is transported via the microtubule system to the aggresomes. 26183326 2015
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GeneticVariation disease BEFREE SH3PXD2B is required for the formation of functional podosomes, and loss-of-function mutations in SH3PXD2B have recently been shown to underlie 7 of 13 families with Frank-Ter Haar syndrome (FTHS). 24105366 2014
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GeneticVariation disease BEFREE Furthermore, a PX domain mutant (R43W) Tks4 carrying a reported point mutation in a Frank-ter Haar syndrome patient showed aberrant intracellular expression and reduced phosphoinositide binding. 22829589 2012
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GeneticVariation disease BEFREE The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome 5q35.1. 23140272 2012
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome 5q35.1. 23140272 2012
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND Mutation analysis revealed five different homozygous mutations in SH3PXD2B in seven FTHS families. 20137777 2010
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GeneticVariation disease UNIPROT Mutation analysis revealed five different homozygous mutations in SH3PXD2B in seven FTHS families. 20137777 2010
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GermlineCausalMutation disease ORPHANET Mutation analysis revealed five different homozygous mutations in SH3PXD2B in seven FTHS families. 20137777 2010
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GeneticVariation disease BEFREE Mutation analysis revealed five different homozygous mutations in SH3PXD2B in seven FTHS families. 20137777 2010
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND Melnick-Needles syndrome: indication for an autosomal recessive form. 7158646 1982
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GeneticVariation disease CLINVAR
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 Biomarker disease CTD_human
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 CausalMutation disease CLINVAR
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND