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Results 1 - 10 of 15 for metabolic syndrome
  1. PTEN gene 
    ... THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN-opathies and precision medicine. Endocr Relat Cancer. ...
    https://medlineplus.gov/genetics/gene/pten - Genetics
  2. DHCR7 gene 
    ... Nowaczyk MJ, Waye JS. The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. ...
    https://medlineplus.gov/genetics/gene/dhcr7 - Genetics
  3. BCS1L gene 
    ... RW, Turnbull DM, Suomalainen A, Peltonen L. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a ...
    https://medlineplus.gov/genetics/gene/bcs1l - Genetics
  4. LIMK1 gene 
    ... VS, Weinberger DR, Berman KF. Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome. J Clin Invest. 2005 Jul;115(7):1888- ...
    https://medlineplus.gov/genetics/gene/limk1 - Genetics
  5. CLIP2 gene 
    ... VS, Weinberger DR, Berman KF. Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome. J Clin Invest. 2005 Jul;115(7):1888- ...
    https://medlineplus.gov/genetics/gene/clip2 - Genetics
  6. ATP7A gene 
    ... 5):547-86. Citation on PubMed Kaler SG. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol. 1998 Jan-Feb;1(1): ...
    https://medlineplus.gov/genetics/gene/atp7a - Genetics
  7. FMO3 gene 
    ... ClinVar ... mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome. Nat Genet. 1997 Dec;17(4):491-4. ...
    https://medlineplus.gov/genetics/gene/fmo3 - Genetics
  8. AGPAT2 gene 
    ... 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. ... insights into metabolic dysfunction. Nat Rev Endocrinol. 2015 Sep;11(9): ...
    https://medlineplus.gov/genetics/gene/agpat2 - Genetics
  9. ATP6V0A2 gene 
    ... also cause a related condition called wrinkly skin syndrome, which typically has milder features. Variants in the ... the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur ...
    https://medlineplus.gov/genetics/gene/atp6v0a2 - Genetics
  10. PRKAG2 gene 
    ... least seven mutations that cause Wolff-Parkinson-White syndrome have been identified in the PRKAG2 gene. Some ... signaling that are characteristic of Wolff-Parkinson-White syndrome.Other studies have found that altered AMP-activated ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
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