Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel 3'UTR mutation in the SLC29A3 gene is associated with the PHID syndrome, highlighting a potentially new pathological mechanism for this disease.
|
30821020 |
2019 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The identification of a novel homozygous frameshift mutation (c.307_308delTT, p.F103Ter) in SLC29A3 gene, together with the characteristic clinical manifestations of H syndrome, provided accurate diagnosis for this patient.
|
30723056 |
2019 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study not only extended the clinical and mutation spectrum of SLC29A3 in H syndrome, but also showed that short children should be assessed according to the guidelines for short stature in children.
|
30625464 |
2019 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Case presentation Here, we present follow-up of a Turkish girl diagnosed with H syndrome at the age of 10 with a homozygous 310(c.933T>A, p.C310X) early stop codon mutation on exon 6 of the SLC29A3 gene.
|
30517079 |
2019 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures.
|
30101042 |
2018 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hence, genetic analysis of the SLC29A3 gene was performed for four patients with a clinical diagnosis of H syndrome.
|
29808591 |
2018 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report.
|
27316388 |
2018 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Tocilizumab for the Treatment of SLC29A3 Mutation Positive PHID Syndrome.
|
29079714 |
2017 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Herein, we report a novel homozygous c.1339G>A (p.Glu447Lys) mutation in the SLC29A3 gene in a patient with skin-dominant presentation of H syndrome.
|
28554179 |
2017 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
H syndrome: 5 new cases from the United States with novel features and responses to therapy.
|
29041934 |
2017 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome.
|
24894595 |
2015 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to identify pathogenic SLC29A3 mutations in a Chinese patient clinically diagnosed with H syndrome.
|
25963354 |
2015 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome.
|
24894595 |
2015 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is the first case of H syndrome with Raynaud's phenomenon and retroperitoneal fibrosis, and the first Japanese case of H syndrome reported in the English published work with a novel mutation in the SLC29A3 gene.
|
26074390 |
2015 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Agenesis of the inferior vena cava in H syndrome due to a novel SLC29A3 mutation.
|
23406517 |
2014 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.
|
22989030 |
2013 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.
|
22989030 |
2013 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These clinical features overlapped with pigmented hypertrichosis with insulin-dependent diabetes (PHID), H syndrome, Faisalabad histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), all of which are also caused by SLC29A3 mutations.
|
23623699 |
2013 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin.
|
22653152 |
2012 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
H syndrome is caused by mutations in the gene SLC29A3, which encodes hENT3, a member of the human equilibrative nucleoside transporter family.
|
22356918 |
2012 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in SLC29A3 have been reported in rare patients with a wide range of overlapping clinical features and inherited disorders including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, and Faisalabad histiocytosis.
|
22238637 |
2012 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
Biomarker
|
disease |
BEFREE |
In 2008, SLC29A3 has been implicated in a syndromic form of genodermatosis: H syndrome.
|
21888995 |
2012 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome.
|
23058913 |
2012 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In 2008, SLC29A3 has been implicated in a syndromic form of genodermatosis: H syndrome.
|
21888995 |
2012 |
Histiocytosis with joint contractures and sensorineural deafness
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
|
22875837 |
2012 |