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CLS
MCID: CFF002
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Coffin-lowry Syndrome malady |
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Sources: 30NIH Rare Diseases, 31NINDS, 17Genetics Home Reference, 15GeneReviews, 33OMIM, 22MalaCards See all sources Export this MalaCard |
NINDS: Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities,
mental retardation, short stature, and hypotonia. Characteristic facial features may include an underdeveloped upper jaw bone
(maxillary hypoplasia), a broad nose, protruding nostrils (nares), an abnormally prominent brow, down-slanting eyelid folds
(palpebral fissures), widely spaced eyes (hypertelorism), large low-set ears, and unusually thick eyebrows. Skeletal abnormalities
may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis), unusual prominence of the breastbone
(pigeon chest, or pectus carinatum), dental abnormalities, and short, hyperextensible, tapered fingers. Other features may
include feeding and respiratory problems, developmental delay, mental retardation, hearing impairment, awkward gait, stimulus-induced
drop episodes, and heart and kidney involvement. The disorder affects males and females in equal numbers, but symptoms are
usually more severe in males. The disorder is caused by a defective gene, , which is found in 1996 on the X chromosome (Xp22.2-p22.1). Thus, the syndrome is typically more severe in males because
males have only one X chromosome, while females have two. It is unclear how changes (mutations) in the DNA structure of the
gene lead to the clinical findings.31
MalaCards: Coffin-lowry Syndrome, also known as mental retardation with osteocartilaginous abnormalities, is related to fibrosis and neuronitis. An important gene associated with Coffin-lowry Syndrome is RPS6KA3 (ribosomal protein S6 kinase, 90kDa, polypeptide 3), and among its related pathways are Development IGF-RI signaling and Cellular Transformation by HTLV1. The drugs buspirone hydrochloride and buspirone and the compounds methyl 2,5-dihydroxycinnamate and kn 93 have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and kidney. NIH Rare Diseases: Coffin-Lowry syndrome is a genetic condition that affects many parts of the body. The signs and symptoms and severity vary from person to person; however, males are typically more severely affected than females. Signs and symptoms may include distinct facial findings, short stature, microcephaly, kyphoscoliosis, other skeletal abnormalities, stimulus-induced drop episodes, intellectual disability and delayed development. Mutations in the RPS6KA3 gene cause the syndrome. It is inherited in an X-linked dominant fashion. Treatment is symptomatic.30 Genetics Home Reference: Coffin-Lowry syndrome is a condition that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women.17 Wikipedia: Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental...44 more... OMIM: 303600 GeneReviews summary for cls |
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Sources: 6Disease Ontology, 7diseasecard, 44Wikipedia, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 31NINDS, 8DISEASES, 33OMIM, 32Novoseek , 43UMLS, 27NCIt, 24MeSH, 40SNOMED-CT See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 303600
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for coffin-lowry syndrome Drug clinical trials:Search ClinicalTrials for coffin-lowry syndrome Search NIH Clinical Center for coffin-lowry syndrome Search CenterWatch for coffin-lowry syndrome Inferred drug relations via UMLS/NDF-RT:43 28 buspirone, buspirone hydrochloride |
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Sources: 16GeneTests See all sources |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to coffin-lowry syndrome:22Brain, Heart, Kidney
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Sources: 35PubMed See all sources |
Articles related to coffin-lowry syndrome:(show all 35)
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Sources: 1BioGPS See all sources |
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Sources: 10EMD Millipore, 36QIAGEN, 41Thomson Reuters, 37R&D Systems, 38Reactome, 20KEGG, 3Cell Signaling Technology See all sources |
Pathways related to coffin-lowry syndrome according to GeneDecks:(show top 50) (show all 70)
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Sources: 32Novoseek , 42Tocris Bioscience, 9DrugBank, 18HMDB See all sources |
Compounds related to coffin-lowry syndrome according to GeneDecks:(show all 30)
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Sources: 12Gene Ontology See all sources |
Cellular components related to coffin-lowry syndrome according to GeneDecks:
Biological processes related to coffin-lowry syndrome according to GeneDecks:(show all 23)
Molecular functions related to coffin-lowry syndrome according to GeneDecks:
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