Coffin-Lowry Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Bone diseases, Mental diseases
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 47NINDS, 25GTR, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Coffin-Lowry Syndrome:
Orphanet epidemiological data:52
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal
Inheritance: x-linked dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Endocrine diseases, Bone diseases, Mental diseases
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
NINDS:47 Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, 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, 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.
MalaCards based summary: Coffin-Lowry Syndrome, also known as cls, is related to symptomatic form of coffin-lowry syndrome in female carriers and coffin syndrome 1, and has symptoms including thick lower lip vermilion, open mouth and everted lower lip vermilion. An important gene associated with Coffin-Lowry Syndrome is RPS6KA3 (Ribosomal Protein S6 Kinase A3), and among its related pathways are VEGFR3 signaling in lymphatic endothelium and Interleukin-11 Signaling Pathway. Affiliated tissues include bone, kidney and eye, and related mouse phenotype muscle.
NIH Rare Diseases:46 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. last updated: 7/23/2010
UniProtKB/Swiss-Prot:68 Coffin-Lowry syndrome: A X-linked mental retardation associated with facial and digital dysmorphisms, progressive skeletal malformations, growth retardation, hearing deficit and paroxysmal movement disorders.
Genetics Home Reference:24 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.
OMIM:50 Coffin-Lowry syndrome is a rare form of X-linked mental retardation characterized by skeletal malformations, growth... (303600) more...
Wikipedia:69 Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental... more...
GeneReviews summary for NBK1346
Symptoms by clinical synopsis from OMIM:303600
Clinical features from OMIM:303600
Symptoms:52 (show all 72)
HPO human phenotypes related to Coffin-Lowry Syndrome:(show all 114)
UMLS symptoms related to Coffin-Lowry Syndrome:seizures
MalaCards organs/tissues related to Coffin-Lowry Syndrome:34
Bone, Kidney, Eye, Heart, Skin, Cerebellum, Skeletal muscle
Articles related to Coffin-Lowry Syndrome:(show top 50) (show all 120)
UniProtKB/Swiss-Prot genetic disease variations for Coffin-Lowry Syndrome:68 (show all 11)
Clinvar genetic disease variations for Coffin-Lowry Syndrome:5 (show all 20)
Search GEO for disease gene expression data for Coffin-Lowry Syndrome.
Pathways related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:(show all 35)
Biological processes related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:(show all 7)
Molecular functions related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet