CLS
MCID: CFF002
MIFTS: 72

Coffin-Lowry Syndrome (CLS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Bone diseases, Mental diseases categories

Summaries for Coffin-Lowry Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NINDS:45 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.

MalaCards: Coffin-Lowry Syndrome, also known as CLS, is related to mental retardation and cystic fibrosis, and has symptoms including hypertonia/spasticity/rigidity/stiffness, cataract/lens opacification and retinitis pigmentosa/retinal pigmentary changes. An important gene associated with Coffin-Lowry Syndrome is RPS6KA3 (ribosomal protein S6 kinase, 90kDa, polypeptide 3), and among its related pathways are Cellular Transformation by HTLV1 and IL-9 Signaling Pathways. The compounds kn62 and kn 93 have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and kidney, and related mouse phenotypes are reproductive system and muscle.

Genetics Home Reference:22 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.

NIH Rare Diseases:44 Coffin-lowry syndrome is a genetic condition that affects many parts of the body. the signs and symptoms and severityĀ 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.Ā mutations in the rps6ka3 gene cause the syndrome. it is inherited in an x-linked dominantĀ fashion. treatment is symptomatic. last updated: 7/23/2010

Wikipedia:66 Coffin?Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental... more...

Description from OMIM:48 303600

GeneReviews summary for cls

Aliases & Classifications for Coffin-Lowry Syndrome

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9Disease Ontology, 10diseasecard, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 45NINDS, 41NCIt, 59SNOMED-CT, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
coffin-lowry syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

coffin-lowry syndrome 9 10 66 20 44 21 23 22 48 11 46 50 63
cls 66 44 22 50
mental retardation with osteocartilaginous abnormalities 66 44 22
coffin lowry syndrome 45
coffin syndrome 44


External Ids:

Disease Ontology9 DOID:3783
NCIt41 C84643
OMIM48 303600
MeSH36 D038921
SNOMED-CT59 15182000
MESH via Orphanet37 D038921
ICD10 via Orphanet27 Q87.0
SNOMED-CT via Orphanet60 15182000
UMLS via Orphanet64 C0265252

Related Diseases for Coffin-Lowry Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Coffin-Lowry Syndrome:



Diseases related to coffin-lowry syndrome

Symptoms for Coffin-Lowry Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

303600

Clinical features from OMIM:

303600

Symptoms:

50 (show all 68)
  • hypertonia/spasticity/rigidity/stiffness
  • cataract/lens opacification
  • retinitis pigmentosa/retinal pigmentary changes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • blepharitis/eyelid inflammation
  • tricuspid valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • abnormal gait
  • dilated cerebral ventricles without hydrocephaly
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • absent/small fingernails/anonychia of hands
  • loose skin/skin relaxation/excess skin/creases
  • flat foot
  • terminal/third phalangeal bone of fingers hypoplasia
  • metacarpal anomalies/archibald's sign
  • premature eruption of teeth/natal teeth
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • early death in adulthood
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • muscle weakness/flaccidity
  • auto-aggressivity/auto-mutilation
  • seizures/epilepsy/absences/spasms/status epilepticus
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • corpus callosum/septum pellucidum total/partial agenesis
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • apnea/sleep apnea
  • sensorineural deafness/hearing loss
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • prominent/bat ears
  • pectus excavatum
  • pectus carinatum
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • anodontia/oligodontia/hypodontia
  • tooth shape anomaly
  • mouth held open
  • everted lower lip
  • protruding lips
  • thick lips
  • flared/thick ala nasi
  • anteverted nares/nostrils
  • depressed nasal bridge
  • epicanthic folds
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • hypertelorism
  • coarse face
  • frontal bossing/prominent forehead
  • kyphosis
  • scoliosis
  • high vaulted/narrow palate
  • macrostomia/big mouth
  • broad nose/nasal bridge
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • microcephaly
  • short stature/dwarfism/nanism
  • hyperextensible joints/articular hyperlaxity
  • diaphyseal anomaly
  • delayed bone age
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • hypotonia
  • thick/dowel fingers
  • tapered fingers
  • large hand
  • short hand/brachydactyly
  • abnormal vertebral size/shape
  • dense/thickened skull/calvarium/cranial/facial hyperostosis

Drugs & Therapeutics for Coffin-Lowry Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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

Genetic Tests for Coffin-Lowry Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Coffin-Lowry Syndrome:

id Genetic test Affiliating Genes
1 Coffin-Lowry Syndrome21 23 RPS6KA3

Anatomical Context for Coffin-Lowry Syndrome

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34MalaCards
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MalaCards organs/tissues related to Coffin-Lowry Syndrome:

34
Bone, Eye, Kidney, Heart, Skin, Cerebellum, Brain, Testes

Animal Models for Coffin-Lowry Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Coffin-Lowry Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.9CREB1, PDHA1, RPS6KB2, RPS6KA3, FOS, ATF4
2MP:00053698.0ATF4, RPS6KA2, RPS6KA3, RPS6KB2, PDHA1, CREB1
3MP:00053847.5ATF4, FOS, PLD1, RPS6KA5, RPS6KB2, MAPK10
4MP:00053857.4PLD1, RPS6KA2, RPS6KA3, RPS6KB2, RPS6KA6, MAPK10
5MP:00053766.7CREB1, ATF4, FOS, PLD1, RPS6KA5, RPS6KA2

Publications for Coffin-Lowry Syndrome

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53PubMed
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Articles related to Coffin-Lowry Syndrome:

(show top 50)    (show all 107)
idTitleAuthorsYear
1
The Coffin-Lowry Syndrome-Associated Protein RSK2 Regulates Neurite Outgrowth through Phosphorylation of Phospholipase D1 (PLD1) and Synthesis of Phosphatidic Acid. (24336713)
2013
2
Mitral and tricuspid valve surgery for Coffin-Lowry syndrome. (23873216)
2013
3
Classic phenotype of Coffin-lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain. (24311527)
2013
4
Stimulus-induced drop episodes in Coffin-Lowry syndrome. (22490425)
2012
5
Four novel RSK2 mutations in females with Coffin-Lowry syndrome. (20637903)
2010
6
The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion. (21061166)
2010
7
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
8
The Coffin-Lowry syndrome-associated protein RSK2 controls neuroendocrine secretion through the regulation of phospholipase D1 at the exocytotic sites. (19161391)
2009
9
Dopaminergic system dysregulation in the mrsk2_KO mouse, an animal model of the Coffin-Lowry syndrome. (18823370)
2008
10
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. (17586481)
2007
11
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. (17100996)
2006
12
Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. (16879200)
2006
13
Treatment of drop episodes in Coffin-Lowry syndrome. (16021355)
2006
14
A case of Coffin-Lowry syndrome with premature exfoliation of primary teeth. (16643544)
2006
15
RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes. (15668050)
2005
16
The movement disorders of Coffin-Lowry syndrome. (15668049)
2005
17
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay. (16306095)
2005
18
ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome. (15109498)
2004
19
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. (14986828)
2003
20
Coffin-Lowry syndrome. (14719793)
2003
21
Coffin-Lowry syndrome: clinical and molecular features. (12362025)
2002
22
Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes. (12210291)
2002
23
Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome. (11992250)
2002
24
Cognitive function in Coffin-Lowry syndrome. (12030896)
2002
25
A female with Coffin-Lowry syndrome and "cataplexy". (12558110)
2002
26
A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome. (12014383)
2002
27
Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response. (11022143)
2000
28
Coffin-Lowry syndrome: current status. (10398230)
1999
29
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. (10528858)
1999
30
Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome. (9832033)
1998
31
Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis. (9467016)
1998
32
New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome. (9610000)
1998
33
"Cataplexy" in Coffin-Lowry syndrome. (9719387)
1998
34
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. (8955270)
1996
35
Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers. (8588856)
1995
36
Corpus callosum agenesis in Coffin-Lowry syndrome. (8031540)
1994
37
Callosal dysgenesis in a patient with Coffin-Lowry syndrome. (7927588)
1994
38
Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations. (7681250)
1993
39
Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2. (1349200)
1992
40
Calcified ligamenta flava in a patient with Coffin-Lowry syndrome: biochemical analysis of glycosaminoglycans. (2398636)
1990
41
The radiology of Coffin-Lowry syndrome. (2306591)
1990
42
Enhanced accumulation of hyaluronate in the culture of skin fibroblasts from two patients with Coffin-Lowry syndrome. (2588262)
1989
43
A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter. (3177468)
1988
44
Cardiac involvement in Coffin-Lowry syndrome. (3396606)
1988
45
Brief clinico-genetic report: the Coffin-Lowry syndrome. (3659816)
1987
46
Coffin-Lowry syndrome and schizophrenia: a family report. (3625766)
1987
47
The Coffin-Lowry syndrome. A study of two new index patients and their families. (6519116)
1984
48
Coffin-Lowry syndrome in an Afro-American family. (7081302)
1982
49
The Coffin-Lowry syndrome: a facio digital mental retardation syndrome: a case report. (1278980)
1976
50
The Coffin-Lowry syndrome: a simply inherited trait comprising mental retardation, faciodigital anomalies and skeletal involvement. (1201338)
1975

Variations for Coffin-Lowry Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Coffin-Lowry Syndrome:

65 (show all 11)
id Symbol AA change Variation ID SNP ID
1RPS6KA3p.Gly75ValVAR_006189
2RPS6KA3p.Val82PheVAR_006190
3RPS6KA3p.Arg114TrpVAR_006191
4RPS6KA3p.His127GlnVAR_006192
5RPS6KA3p.Asp154TyrVAR_006193
6RPS6KA3p.Ala225ValVAR_006194
7RPS6KA3p.Ser227AlaVAR_006195
8RPS6KA3p.Gly431AspVAR_006196
9RPS6KA3p.Arg729GlnVAR_006197rs28935171
10RPS6KA3p.Ile189LysVAR_065894
11RPS6KA3p.Phe268SerVAR_065896

Clinvar genetic disease variations for Coffin-Lowry Syndrome:

1 (show all 18)
id Gene Name Type Significance SNP ID Assembly Location
1RPS6KA3RPS6KA3, 187-BP DEL, NT406deletionPathogenic
2RPS6KA3NM_004586.2(RPS6KA3): c.224G> T (p.Gly75Val)single nucleotide variantPathogenicrs122454124GRCh37Chr X, 20227425: 20227425
3RPS6KA3NM_004586.2(RPS6KA3): c.679T> G (p.Ser227Ala)single nucleotide variantPathogenicrs122454125GRCh37Chr X, 20206041: 20206041
4RPS6KA3NM_004586.2(RPS6KA3): c.244G> T (p.Val82Phe)single nucleotide variantPathogenicrs122454126GRCh37Chr X, 20222221: 20222221
5RPS6KA3NM_004586.2(RPS6KA3): c.326-1G> Csingle nucleotide variantPathogenicGRCh37Chr X, 20213264: 20213264
6RPS6KA3NM_004586.2(RPS6KA3): c.340C> T (p.Arg114Trp)single nucleotide variantPathogenicrs122454127GRCh37Chr X, 20213249: 20213249
7RPS6KA3RPS6KA3, 2-BP DEL, 451AGdeletionPathogenic
8RPS6KA3NM_004586.2(RPS6KA3): c.2065C> T (p.Gln689Ter)single nucleotide variantPathogenicrs122454128GRCh37Chr X, 20174262: 20174262
9RPS6KA3NM_004586.2(RPS6KA3): c.2186G> A (p.Arg729Gln)single nucleotide variantPathogenicrs28935171GRCh37Chr X, 20173553: 20173553
10RPS6KA3NM_004586.2(RPS6KA3): c.566T> A (p.Ile189Lys)single nucleotide variantPathogenicrs122454130GRCh37Chr X, 20211632: 20211632
11RPS6KA3RPS6KA3, IVS6, A-G, +3single nucleotide variantPathogenic
12RPS6KA3RPS6KA3, IVS5, A-G, -11single nucleotide variantPathogenic
13RPS6KA3RPS6KA3, 1-BP DEL, 2144CdeletionPathogenic
14RPS6KA3RPS6KA3, IVS12, A-G, -2single nucleotide variantPathogenic
15RPS6KA3RPS6KA3, IVS3, L1 INS, -8insertionPathogenic
16RPS6KA3NM_004586.2(RPS6KA3): c.803T> C (p.Phe268Ser)single nucleotide variantPathogenicrs122454131GRCh37Chr X, 20204456: 20204456
17RPS6KA3RPS6KA3, 3-BP DEL, 1428TATdeletionPathogenic
18RPS6KA3RPS6KA3, DUP EXONS 17-20, NT1959duplicationPathogenic

Expression for genes affiliated with Coffin-Lowry Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Coffin-Lowry Syndrome

Search GEO for disease gene expression data for Coffin-Lowry Syndrome.

Pathways for genes affiliated with Coffin-Lowry Syndrome

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Sources:
51PathCards, 54QIAGEN, 55R&D Systems, 39NCBI BioSystems Database, 61Thomson Reuters, 56Reactome, 31KEGG, 13EMD Millipore, 62Tocris Bioscience, 5Cell Signaling Technology
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Pathways related to Coffin-Lowry Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 98)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7FOS, MAPK10, CREB1
2
Show member pathways
IL-9 Signaling Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
9.4CREB1, RPS6KA3, RPS6KA1, FOS
3
Show member pathways
9.3MAPK10, CREB1, ATF4, FOS
49.3MAPK10, ATF4, FOS, CREB1
5
Show member pathways
9.3FOS, MAPK10, CREB1, ATF4
6
Show member pathways
9.2CREB1, MAPK10, RPS6KA1, ATF4
7
Show member pathways
9.1FOS, CREB1, RPS6KA1, RPS6KA5
89.0FOS, PLD1, CREB1, RPS6KA1
9
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
8.9CREB1, RPS6KA2, MAPK10, FOS
10
Show member pathways
Immune response IL 4 signaling pathway61
Signal transduction AKT signaling61
8.8RPS6KA2, RPS6KA3, RPS6KA1, CREB1
118.8CREB1, FOS, RPS6KA5, MAPK10, ATF4
128.6CREB1, RPS6KA1, FOS, RPS6KA3, RPS6KA5, MAPK10
13
Show member pathways
8.6SKP1, MAPK10, MAPKAP1, CREB1, RPS6KB2, FOS
14
Show member pathways
Development A2B receptor action via G protein alpha s61
8.6RPS6KA1, RPS6KA2, RPS6KA3, CREB1, MAPK10
15
Show member pathways
Development Flt3 signaling61
8.6RPS6KA2, CREB1, MAPK10, RPS6KA1, RPS6KA3
16
Show member pathways
8.6RPS6KA2, RPS6KA3, MAPK10, FOS, RPS6KA1
17
Show member pathways
8.4RPS6KA2, RPS6KA3, RPS6KA1, RPS6KA6, CREB1
18
Show member pathways
Cytoskeleton remodeling FAK signaling61
Development Endothelin 1 EDNRA transactivation of EGFR61
8.4RPS6KB2, FOS, ATF4, CREB1, PLD1, MAPK10
19
Show member pathways
8.4MAPK10, RPS6KA1, RPS6KA6, RPS6KA3, RPS6KA2
20
Show member pathways
8.4RPS6KA6, RPS6KA2, RPS6KA1, RPS6KA3, MAPK10
21
Show member pathways
Cytoplasmic Ribosomal Proteins39
8.4RPS6KB2, RPS6KA1, RPS6KA6, RPS6KA2, RPS6KA3
22
Show member pathways
Development EDNRB signaling61
Development ACM2 and ACM4 activation of ERK61
Cell adhesion Integrin inside out signaling61
Development G Proteins mediated regulation MARK ERK signaling61
Signal transduction IP3 signaling61
Development Angiotensin signaling via PYK261
Development EPO induced MAPK pathway61
8.3MAPK10, RPS6KA2, RPS6KA3, RPS6KA1, CREB1, FOS
23
Show member pathways
Development Ligand independent activation of ESR1 and ESR261
8.3RPS6KA1, RPS6KA2, CREB1, RPS6KA5, RPS6KA3
248.3RPS6KA3, PLD1, RPS6KA5, FOS, CREB1, MAPKAP1
25
Show member pathways
8.2RPS6KA5, MAPK10, ATF4, FOS, PLD1, CREB1
26
Show member pathways
8.2RPS6KA6, RPS6KA2, RPS6KA3, RPS6KA1, MAPK10, FOS
27
Show member pathways
8.2RPS6KA3, RPS6KA1, RPS6KA5, RPS6KA2, RPS6KA6
28
Show member pathways
8.1RPS6KA6, RPS6KA3, RPS6KA1, ATF4, RPS6KA2, CREB1
29
Show member pathways
7.9RPS6KA6, RPS6KA5, CREB1, RPS6KA2, RPS6KA3, RPS6KA1
30
Show member pathways
7.9RPS6KA2, RPS6KA3, RPS6KA1, RPS6KA6, MAPK10, SKP1
31
Show member pathways
Apoptosis and survival BAD phosphorylation61
Development Alpha 2 adrenergic receptor activation of ERK61
Chemotaxis CXCR4 signaling pathway61
7.9RPS6KA6, RPS6KB2, RPS6KA1, RPS6KA5, RPS6KA2, RPS6KA3
32
Show member pathways
7.8RPS6KA2, RPS6KA1, CREB1, MAPK10, FOS, RPS6KA3
33
Show member pathways
7.8RPS6KA5, RPS6KA3, CREB1, MAPK10, RPS6KA1, RPS6KA2
34
Show member pathways
7.7CREB1, MAPKAP1, RPS6KB2, RPS6KA1, RPS6KA3, RPS6KA2
35
Show member pathways
7.6RPS6KA2, RPS6KA3, RPS6KA1, RPS6KA6, RPS6KA5, FOS
36
Show member pathways
Development ERBB family signaling61
Development GDNF family signaling61
7.5FOS, RPS6KA6, ATF4, RPS6KA2, RPS6KA3, RPS6KA1
37
Show member pathways
7.5RPS6KA2, RPS6KA1, RPS6KA6, MAPK10, RPS6KA3, PLD1
387.4CREB1, RPS6KA1, RPS6KA3, RPS6KA2, RPS6KA5, PLD1
39
Show member pathways
7.4RPS6KA3, ATF4, RPS6KA5, FOS, RPS6KA2, RPS6KA1
407.4RPS6KA1, RPS6KA5, FOS, RPS6KA2, RPS6KA3, RPS6KA6
41
Show member pathways
7.4RPS6KA1, MAPK10, RPS6KA6, RPS6KB2, RPS6KA3, RPS6KA2
427.3RPS6KA6, MAPK10, CREB1, ATF4, RPS6KA5, RPS6KA2
43
Show member pathways
MAPK signaling pathway39
7.3MAPK10, ATF4, FOS, RPS6KA5, RPS6KA2, RPS6KA3
44
Show member pathways
7.2RPS6KA2, CREB1, RPS6KA5, SKP1, MAPKAP1, RPS6KB2
45
Show member pathways
Development EGFR signaling via PIP361
Development PDGF signaling via MAPK cascades61
Apoptosis and survival Anti apoptotic action of membrane bound ESR161
Signaling of Hepatocyte Growth Factor Receptor39
Development EGFR signaling via small GTPases61
Development Neurotrophin family signaling61
Apoptosis and survival NGF signaling pathway61
Apoptosis and survival Role of CDK5 in neuronal death and survival61
7.0ATF4, FOS, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1
46
Show member pathways
7.0RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, RPS6KB2, RPS6KA6
47
Show member pathways
6.9ATF4, FOS, PLD1, RPS6KA2, MAPK10, RPS6KA3
48
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
6.8RPS6KB2, RPS6KA1, RPS6KA3, RPS6KA2, RPS6KA5, RPS6KA6
49
Show member pathways
6.4RPS6KA3, RPS6KA1, FOS, RPS6KA5, RPS6KA2, ATF4
50
Show member pathways
6.4CREB1, RPS6KA6, RPS6KA3, RPS6KA1, RPS6KA2, RPS6KA5

Compounds for genes affiliated with Coffin-Lowry Syndrome

About this section
Sources:
46Novoseek, 30IUPHAR, 52PharmGKB, 12DrugBank, 62Tocris Bioscience, 25HMDB, 3BitterDB
See all sources

Compounds related to Coffin-Lowry Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1kn6246 3011.3CREB1, FOS
2kn 934610.3FOS, MAPK10
3methyl 2,5-dihydroxycinnamate4610.3FOS, MAPK10
41-(5-isoquinolinylsulfonyl)-2-methylpiperazine4610.2MAPK10, FOS
5quinpirole46 3011.2CREB1, FOS
6cl 1004610.2FOS, MAPK10
7chelerythrine4610.1CREB1, MAPK10, FOS
8bisindolylmaleimide4610.1CREB1, MAPK10, FOS
915-deoxy-delta-12,14-prostaglandin j24610.1CREB1, MAPK10, FOS
10ag 14784610.1CREB1, MAPK10, FOS
11morphine46 52 30 1213.0CREB1, MAPK10, FOS
12carbachol46 30 1212.0CREB1, MAPK10, FOS
13kt 572046 62 3012.0CREB1, MAPK10
14herbimycin a46 6211.0CREB1, MAPK10, FOS
15nmda46 3010.8FOS, RPS6KA3, MAPK10, CREB1
16curcumin469.8FOS, MAPK10, CREB1, PHKA2
17arsenite46 2510.8MAPK10, FOS, ATF4
18chloramphenicol46 3 52 1212.8CREB1, PDHA1, FOS
19n acetylcysteine469.7CREB1, MAPK10, FOS, ATF4
20thapsigargin46 6210.7CREB1, MAPK10, ATF4
21ly294002469.7FOS, RPS6KA1, MAPK10, CREB1
22k252a469.7CREB1, MAPK10
23wortmannin469.6FOS, RPS6KA3, RPS6KB2, MAPK10, CREB1
24okadaic acid46 6210.6FOS, MAPK10, CREB1
25egcg469.6FOS, PLD1, MAPK10
26anisomycin46 1210.6FOS, RPS6KA5, MAPK10, CREB1
27sb 20358046 6210.6FOS, RPS6KA5, MAPK10, CREB1
28gf 109203x46 6210.5CREB1, MAPK10, PLD1, FOS
29glycogen46 2510.5RPS6KA1, MAPK10, PDHA1, CREB1, PHKA2
3012-o-tetradecanoylphorbol 13-acetate469.5FOS, PLD1, MAPK10, CREB1
31ceramide469.4PLD1, MAPK10, CREB1
32cycloheximide469.2FOS, PLD1, MAPK10, CREB1
33rapamycin469.2ATF4, RPS6KA3, RPS6KA1, RPS6KB2, MAPK10, CREB1
34pf 4708671629.1RPS6KA2, RPS6KA3, RPS6KA1, RPS6KA6
35brd 7389629.1RPS6KA6, RPS6KA1, RPS6KA3, RPS6KA2
36sl 0101-1629.1RPS6KA6, RPS6KA1, RPS6KA3, RPS6KA2
37pd 98,059469.1FOS, RPS6KA5, RPS6KA3, RPS6KA1, MAPK10, CREB1
38retinoic acid46 2510.0FOS, PLD1, RPS6KA1, MAPK10, CREB1
39atp46 3010.0RPS6KA3, RPS6KA1, PDHA1, CREB1, SKP1, PHKA2
40h2o2468.9FOS, PLD1, RPS6KA5, MAPK10, CREB1
41cyclic amp46 259.9ATF4, FOS, RPS6KA5, RPS6KA1, MAPK10, CREB1
42phosphoinositide468.7FOS, PLD1, RPS6KA3, RPS6KA1, RPS6KB2, MAPK10
43phosphatidylinositol468.5ATF4, FOS, PLD1, RPS6KA1, RPS6KB2, MAPK10
44Adenosine triphosphate25 129.4NEK4, RPS6KA5, RPS6KA3, RPS6KA1, RPS6KB2, RPS6KA6
45calcium46 52 25 1211.1ATF4, FOS, PLD1, RPS6KA5, RPS6KA3, MAPK10
46tyrosine467.5RPS6KA5, PLD1, FOS, ATF4, RPS6KA3, RPS6KA1
47threonine467.3FOS, PLD1, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1
48adp46 30 259.3PHKA2, NEK4, PLD1, RPS6KA5, RPS6KA3, RPS6KA1
49magnesium46 25 129.0NEK4, PLD1, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1
50serine467.0ATF4, FOS, PLD1, RPS6KA5, RPS6KA2, RPS6KA3

GO Terms for genes affiliated with Coffin-Lowry Syndrome

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Coffin-Lowry Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.6CREB1, FOS, ATF4
2cytosolGO:0058296.7FOS, RPS6KA2, RPS6KA3, RPS6KA1, RPS6KA6, MAPK10
3nucleoplasmGO:0056546.1SKP1, ATF4, FOS, RPS6KA5, RPS6KA2, RPS6KA3

Biological processes related to Coffin-Lowry Syndrome according to GeneCards/GeneDecks:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1regulation of translation in response to stressGO:04355510.1RPS6KA1, RPS6KA3
2regulation of DNA-templated transcription in response to stressGO:04362010.0RPS6KA1, RPS6KA3
3positive regulation of cell differentiationGO:0455979.9RPS6KA1, RPS6KA3
4positive regulation of osteoclast differentiationGO:0456729.9CREB1, FOS
5phosphatidylinositol-mediated signalingGO:0480159.6RPS6KB2, MAPKAP1, CREB1
6Fc-epsilon receptor signaling pathwayGO:0380959.4FOS, RPS6KB2, MAPK10, MAPKAP1, CREB1
7fibroblast growth factor receptor signaling pathwayGO:0085439.3CREB1, MAPKAP1, RPS6KB2
8epidermal growth factor receptor signaling pathwayGO:0071739.3RPS6KA5, RPS6KB2, MAPKAP1, CREB1
9protein phosphorylationGO:0064689.0PHKA2, CREB1, RPS6KA5, NEK4
10positive regulation of transcription from RNA polymerase II promoterGO:0459448.7ATF4, FOS, RPS6KA5, RPS6KA3, RPS6KA1, CREB1
11synaptic transmissionGO:0072688.6RPS6KA2, RPS6KA3, RPS6KA1, RPS6KA6, CREB1
12stress-activated MAPK cascadeGO:0514038.2CREB1, FOS, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1
13axon guidanceGO:0074118.2RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, RPS6KA6, CREB1
14toll-like receptor 10 signaling pathwayGO:0341668.2MAPK10, RPS6KA1, RPS6KA3, RPS6KA2, RPS6KA5, FOS
15toll-like receptor 5 signaling pathwayGO:0341468.2FOS, CREB1, MAPK10, RPS6KA1, RPS6KA3, RPS6KA2
16toll-like receptor TLR1:TLR2 signaling pathwayGO:0381238.2RPS6KA5, FOS, RPS6KA2, RPS6KA3, RPS6KA1, CREB1
17toll-like receptor TLR6:TLR2 signaling pathwayGO:0381248.2CREB1, MAPK10, RPS6KA1, RPS6KA3, RPS6KA2, RPS6KA5
18toll-like receptor 9 signaling pathwayGO:0341628.2CREB1, MAPK10, RPS6KA1, RPS6KA3, RPS6KA2, RPS6KA5
19toll-like receptor 2 signaling pathwayGO:0341348.2FOS, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, MAPK10
20TRIF-dependent toll-like receptor signaling pathwayGO:0356668.1FOS, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, MAPK10
21MyD88-independent toll-like receptor signaling pathwayGO:0027568.1MAPK10, RPS6KA1, RPS6KA3, RPS6KA2, RPS6KA5, FOS
22MyD88-dependent toll-like receptor signaling pathwayGO:0027558.1FOS, CREB1, MAPK10, RPS6KA1, RPS6KA3, RPS6KA2
23signal transductionGO:0071658.1RPS6KA2, RPS6KA3, RPS6KA1, RPS6KB2, RPS6KA6, MAPK10
24toll-like receptor 3 signaling pathwayGO:0341388.1FOS, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, MAPK10
25toll-like receptor 4 signaling pathwayGO:0341428.1FOS, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, MAPK10
26toll-like receptor signaling pathwayGO:0022248.1FOS, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, MAPK10
27neurotrophin TRK receptor signaling pathwayGO:0480118.0RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, RPS6KB2, MAPKAP1
28innate immune responseGO:0450877.5FOS, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, RPS6KB2

Molecular functions related to Coffin-Lowry Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cysteine-type endopeptidase inhibitor activity involved in apoptotic processGO:0430279.9RPS6KA1, RPS6KA3
2ribosomal protein S6 kinase activityGO:0047119.3RPS6KB2, RPS6KA2
3protein kinase activityGO:0046729.0RPS6KA5, RPS6KA3, RPS6KB2, RPS6KA6
4magnesium ion bindingGO:0002878.3RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, RPS6KA6
5protein serine/threonine kinase activityGO:0046747.6RPS6KA6, RPS6KB2, RPS6KA1, RPS6KA3, RPS6KA2, RPS6KA5
6ATP bindingGO:0055247.2NEK4, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, RPS6KB2
7protein bindingGO:0055155.9ATF4, FOS, PLD1, RPS6KA5, RPS6KA2, RPS6KA1

Products for genes affiliated with Coffin-Lowry Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Coffin-Lowry Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet