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CLS
MCID: CFF002
MIFTS: 60
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Coffin-Lowry Syndrome (CLS)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Coffin-Lowry Syndrome:
Characteristics:Orphanet epidemiological data:58
coffin-lowry syndrome
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; OMIM:56
Inheritance:
x-linked dominant
Miscellaneous:
milder expression in female heterozygotes clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies approximately 70-80% of cases are de novo and sporadic incidence of 1 in 50,000 to 1 in 100,000 HPO:31
coffin-lowry syndrome:
Clinical modifier death in early adulthood Inheritance sporadic x-linked dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Endocrine diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis External Ids:
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NINDS :
53
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, RSK2, 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 learning disability and fetal alcohol spectrum disorder, and has symptoms including seizures An important gene associated with Coffin-Lowry Syndrome is RPS6KA3 (Ribosomal Protein S6 Kinase A3), and among its related pathways/superpathways are MAPK signaling pathway and Oocyte meiosis. Affiliated tissues include eye, bone and heart, and related phenotypes are coarse facial features and intellectual disability Disease Ontology : 12 A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has material basis in mutation in the RSK2 gene on chromosome Xp22. Genetics Home Reference : 25 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. Males with Coffin-Lowry syndrome typically have severe to profound intellectual disability and delayed development. Affected women may be cognitively normal, or they may have intellectual disability ranging from mild to profound. Beginning in childhood or adolescence, some people with this condition experience brief episodes of collapse when excited or startled by a loud noise. These attacks are called stimulus-induced drop episodes (SIDEs). Most affected males and some affected females have distinctive facial features including a prominent forehead, widely spaced and downward-slanting eyes, a short nose with a wide tip, and a wide mouth with full lips. These features become more pronounced with age. Soft hands with short, tapered fingers are also characteristic of Coffin-Lowry syndrome. Additional features of this condition include short stature, an unusually small head (microcephaly), progressive abnormal curvature of the spine (kyphoscoliosis), and other skeletal abnormalities. NIH Rare Diseases : 52 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. OMIM : 56 Coffin-Lowry syndrome is a rare form of X-linked mental retardation characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females (Kesler et al., 2007). Hendrich and Bickmore (2001) reviewed human disorders which share in common defects of chromatin structure or modification, including the ATR-X spectrum of disorders (301040), ICF syndrome (242860), Rett syndrome (312750), Rubinstein-Taybi syndrome (180849), and Coffin-Lowry syndrome. Pereira et al. (2010) provided a review of Coffin-Lowry syndrome. Mutation in the RPS6KA3 gene can also cause nonsyndromic X-linked mental retardation-19 (MRX19; 300844), a milder disorder without skeletal anomalies. (303600) KEGG : 36 Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological signs in the hand are useful aids in the diagnosis. Mutations in the RSK2 (RPS6KA3) gene cause CLS. The RPS6KA3 gene encodes RSK2 that is involved with signaling within cells. UniProtKB/Swiss-Prot : 73 Coffin-Lowry syndrome: An X-linked mental retardation associated with facial and digital dysmorphisms, progressive skeletal malformations, growth retardation, hearing deficit and paroxysmal movement disorders. Wikipedia : 74 Coffin-Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental... more...
GeneReviews:
NBK1346
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Human phenotypes related to Coffin-Lowry Syndrome:58 31 (show top 50) (show all 101)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:303600UMLS symptoms related to Coffin-Lowry Syndrome:seizures GenomeRNAi Phenotypes related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:26 (show all 18)
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Interventional clinical trials:
Cochrane evidence based reviews: coffin-lowry syndrome |
MalaCards organs/tissues related to Coffin-Lowry Syndrome:40
Eye,
Bone,
Heart,
Kidney,
Skin,
Brain,
Skeletal Muscle
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Articles related to Coffin-Lowry Syndrome:(show top 50) (show all 225)
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Genes related to Coffin-Lowry Syndrome (1 elite genes):(show all 21) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Coffin-Lowry Syndrome:6 (show top 50) (show all 57)
UniProtKB/Swiss-Prot genetic disease variations for Coffin-Lowry Syndrome:73 (show all 11)
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Search
GEO
for disease gene expression data for Coffin-Lowry Syndrome.
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Pathways related to Coffin-Lowry Syndrome according to KEGG:36
Pathways related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 56)
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Cellular components related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:
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