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SLC26A2-related disorder

MedGen UID:
893584
•Concept ID:
CN239404
•
Disease or Syndrome
Synonyms: SLC26A2-related condition; SLC26A2-Related Disorders

Professional guidelines

PubMed

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.
Biji IK, Yadav S, Kulshrestha S, Saxena R, Kohli S, Verma IC, Kumar B, Puri RD
Eur J Med Genet 2022 Oct;65(10):104595. Epub 2022 Aug 22 doi: 10.1016/j.ejmg.2022.104595. PMID: 36007841

Recent clinical studies

Etiology

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).
Mäkitie O, Geiberger S, Horemuzova E, Hagenäs L, Moström E, Nordenskjöld M, Grigelioniene G, Nordgren A
Clin Genet 2015 Mar;87(3):273-8. Epub 2014 Apr 1 doi: 10.1111/cge.12371. PMID: 24598000

Diagnosis

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.
Biji IK, Yadav S, Kulshrestha S, Saxena R, Kohli S, Verma IC, Kumar B, Puri RD
Eur J Med Genet 2022 Oct;65(10):104595. Epub 2022 Aug 22 doi: 10.1016/j.ejmg.2022.104595. PMID: 36007841
SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).
Mäkitie O, Geiberger S, Horemuzova E, Hagenäs L, Moström E, Nordenskjöld M, Grigelioniene G, Nordgren A
Clin Genet 2015 Mar;87(3):273-8. Epub 2014 Apr 1 doi: 10.1111/cge.12371. PMID: 24598000

Prognosis

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.
Biji IK, Yadav S, Kulshrestha S, Saxena R, Kohli S, Verma IC, Kumar B, Puri RD
Eur J Med Genet 2022 Oct;65(10):104595. Epub 2022 Aug 22 doi: 10.1016/j.ejmg.2022.104595. PMID: 36007841

Clinical prediction guides

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.
Biji IK, Yadav S, Kulshrestha S, Saxena R, Kohli S, Verma IC, Kumar B, Puri RD
Eur J Med Genet 2022 Oct;65(10):104595. Epub 2022 Aug 22 doi: 10.1016/j.ejmg.2022.104595. PMID: 36007841

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    Related information

    • ClinVar
      Related medical variations
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