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30 Possible Causes for Anterior Fontanelle Open in Adults, Mutations in the Cathepsin K Gene

  • Pyknodysostosis

    […] in the cathepsin K gene.[doi.org] Osteoclasts, bone cells of hematopoietic origin responsible for bone mineral as well as protein matrix degradation, are dysfunctional in patients with pycnodysostosis due to mutations[ncbi.nlm.nih.gov] Pyknodysostosis is caused by mutation in the cathepsin K (CTSK) gene.[ncbi.nlm.nih.gov]

  • Cleidocranial Dysplasia

    Abstract Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder exhibiting a wide clinical spectrum ranging from minimal anomalies to classic CCD. Mutations scattered throughout the entire CBFA1 gene have been related to this disorder. However, it seems that most of them affect the highly conserved[…][ncbi.nlm.nih.gov]

    Missing: Mutations in the Cathepsin K Gene
  • Medullary Thyroid Carcinoma

    Pycnodysostosis is a rare autosomal recessive skeletal dysplasia caused by a mutation in the cathepsin K encoded by cathepsin K gene (CTSK).[ncbi.nlm.nih.gov]

    Missing: Anterior Fontanelle Open in Adults
  • Fabry Disease

    Mutations in the palmityl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature. 1995;376:584-587. Google Scholar 3.[jama.ama-assn.org] Pyknodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science. 1996;273:1236-1238. Google Scholar 2. Vesa J, Hellsten E, Verkruyse LA. et al.[jama.ama-assn.org]

    Missing: Anterior Fontanelle Open in Adults
  • Papilledema

    […] in the CTSK gene that codes for the lysosomal cysteine protease, cathepsin K (CTSK).[ncbi.nlm.nih.gov] […] a frontofacial monobloc distraction advancement which successfully corrected her papilledema and obstructive sleep apnoea.Pycnodysostosis is caused by a loss of function mutation[ncbi.nlm.nih.gov]

    Missing: Anterior Fontanelle Open in Adults
  • Communicating Hydrocephalus

    fontanelle when it is still open) Findings: enlarged lateral ventricles MRI (preferred for children) or CT Indication: older infants (when fontanelle is already closed, typically[amboss.com] 6 months of age) or adults Features of acute hydrocephalus: enlarged ventricles Temporal horn dilation 2 mm Evans ratio 30% Sulcal enlargement Mickey Mouse ventricles Upward[amboss.com] Changes in vital signs resulting from brainstem compression Ultrasonography Indication: clinical suspicion during antenatal period or in infants 6 months of age (through the anterior[amboss.com]

    Missing: Mutations in the Cathepsin K Gene
  • Papillon Lefevre Disease

    2002 37 Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon- Lefevre syndrome. ( 11886537[malacards.org] Genet. (1999) [ Pubmed ] Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene.[wikigenes.org] […] in the cathepsin C gene.[link.springer.com]

    Missing: Anterior Fontanelle Open in Adults
  • Craniosynostosis

    […] in the CTSK gene that codes for the lysosomal cysteine protease, cathepsin K (CTSK).[ncbi.nlm.nih.gov] […] a frontofacial monobloc distraction advancement which successfully corrected her papilledema and obstructive sleep apnoea.Pycnodysostosis is caused by a loss of function mutation[ncbi.nlm.nih.gov]

    Missing: Anterior Fontanelle Open in Adults
  • Kleiner Holmes Syndrome

    […] in the gene that codes the enzyme cathepsin K.[2]Signs and sym … Pyoderma Gangrenosum Pyoderma gangrenosum is a condition that causes tissue to become necrotic, causing deep[checkrare.com] Pycnodysostosis (from Greek: πυκνός (puknos) meaning “dense”,[1] dys (“defective”), and ostosis (“condition of the bone”)), is a lysosomal storage disease of the bone caused by a mutation[checkrare.com]

    Missing: Anterior Fontanelle Open in Adults
  • Mucopolysaccharidosis 4A

    Gelb BD, Shi GP, Chapman HA, Desnick RJ (1996) Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 273:1236–1238 PubMed Google Scholar 14.[link.springer.com] Malvagia S, Morrone A, Caciotti A et al (2004) New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase[link.springer.com]

    Missing: Anterior Fontanelle Open in Adults

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