SH3PXD2B, SH3 and PX domains 2B, 285590

N. diseases: 96; N. variants: 7
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 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: C0033845
Disease: Pseudotumor Cerebri
Pseudotumor Cerebri 		0.010 GeneticVariation disease BEFREE We report a sibling pair with FTHS caused by a homozygous, novel mutation pLys133Glnfs*13 in the SH3PXD2B gene: one sibling had bilateral ocular hypertension and unilateral colobomas of iris, choroid and retina; the other, unilateral myelinated nerve fiber layer of the optic disk and papilledema due to idiopathic intracranial hypertension. 29100834 2017
CUI: C3264175
Disease: Ocular hypertension, bilateral
Ocular hypertension, bilateral 		0.010 GeneticVariation disease BEFREE We report a sibling pair with FTHS caused by a homozygous, novel mutation pLys133Glnfs*13 in the SH3PXD2B gene: one sibling had bilateral ocular hypertension and unilateral colobomas of iris, choroid and retina; the other, unilateral myelinated nerve fiber layer of the optic disk and papilledema due to idiopathic intracranial hypertension. 29100834 2017
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.310 GeneticVariation phenotype BEFREE We examined the effects of a mutation in the Sh3pxd2b gene (Sh3pxd2b(nee)) on the progression of otitis media and hearing impairment at various developmental stages. 21818352 2011
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.310 Biomarker phenotype CTD_human The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. 19669234 2009
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		0.300 Biomarker group CTD_human The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. 19669234 2009
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		0.300 Biomarker group CTD_human The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. 19669234 2009
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		0.300 Biomarker group CTD_human The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. 19669234 2009
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. 19669234 2009
CUI: C0029882
Disease: Otitis Media
Otitis Media 		0.210 Biomarker disease MGD The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. 19669234 2009
CUI: C0029882
Disease: Otitis Media
Otitis Media 		0.210 GeneticVariation disease BEFREE The mouse model with a mutation in the Sh3pxd2b gene (Sh3pxd2b(nee)) mirrors craniofacial dysmorphology and otitis media in humans. 21818352 2011
CUI: C2827407
Disease: Infectious Otitis Media
Infectious Otitis Media 		0.010 GeneticVariation disease BEFREE The mouse model with a mutation in the Sh3pxd2b gene (Sh3pxd2b(nee)) mirrors craniofacial dysmorphology and otitis media in humans. 21818352 2011
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: C0029456
Disease: Osteoporosis
Osteoporosis 		0.110 GeneticVariation disease BEFREE The femurs of the Sh3pxd2b-KO mice had alterations in the trabecular system and showed signs of osteoporosis, and, similarly, the FTHS patient also showed increased trabecular separation/porosity. 30962481 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE The Tks4 scaffold protein has been implicated in cancer progression; however, its role in oncogenesis is not well defined. 31671862 2019
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 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 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: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 Biomarker group BEFREE Mice lacking Tks4 also showed pronounced skeletal, eye, and cardiac abnormalities and phenocopied the majority of the defects associated with FTHS. 20137777 2010
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
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