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MCID: CFF002
MIFTS: 57
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Coffin-Lowry Syndrome
Categories:
Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Bone diseases, Mental diseases
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MalaCards integrated aliases for Coffin-Lowry Syndrome:
Characteristics:Orphanet epidemiological data:59
coffin-lowry syndrome
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; OMIM:57
Inheritance:
isolated cases 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:32
coffin-lowry syndrome:
Mortality/Aging 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 Bone diseases Mental diseases
ICD10:
34
Orphanet: 59
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
External Ids:
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NINDS
:
54
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 symptomatic form of coffin-lowry syndrome in female carriers and coffin syndrome 1, 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 bone, kidney and heart, and related phenotypes are hypertelorism and pectus excavatum OMIM : 57 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. Marques 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) UniProtKB/Swiss-Prot : 75 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. NIH Rare Diseases : 53 Coffin-Lowry syndromeis 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. 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. Wikipedia : 76 Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental... more...
GeneReviews:
NBK1346
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:303600Human phenotypes related to Coffin-Lowry Syndrome:59 32 (show top 50) (show all 102)
UMLS symptoms related to Coffin-Lowry Syndrome:seizures GenomeRNAi Phenotypes related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:26 (show all 11)
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Cochrane evidence based reviews: coffin-lowry syndrome |
MalaCards organs/tissues related to Coffin-Lowry Syndrome:41
Bone,
Kidney,
Heart,
Eye,
Skin,
Skeletal Muscle,
Cerebellum
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Articles related to Coffin-Lowry Syndrome:(show top 50) (show all 127)
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Genes related to Coffin-Lowry Syndrome (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Coffin-Lowry Syndrome:75 (show all 11)
ClinVar genetic disease variations for Coffin-Lowry Syndrome:6
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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:37
Pathways related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 73)
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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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