CLS
MCID: CFF002
MIFTS: 70

Coffin-Lowry Syndrome (CLS) malady

Neuronal diseases, Endocrine diseases, Fetal diseases, Bone diseases categories

Summaries for Coffin-Lowry Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NINDS:43 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 prostate cancer and breast cancer, and has symptoms including prominent/bat ears, dilated cerebral ventricles without hydrocephaly and agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect. An important gene associated with Coffin-Lowry Syndrome is RPS6KA3 (ribosomal protein S6 kinase, 90kDa, polypeptide 3), and among its related pathways are Common Cytokine Receptor Gamma-Chain Family Signaling Pathways and 4-1BB Pathway. The compounds methyl 2,5-dihydroxycinnamate and kn 93 have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and kidney.

Genetics Home Reference:21 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:42 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

Wikipedia:63 Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental... more...

Description from OMIM:46 303600

GeneReviews summary for cls

Aliases & Classifications for Coffin-Lowry Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 39NCIt, 34MeSH, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases, Endocrine diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
coffin-lowry syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

coffin-lowry syndrome 8 9 63 19 42 20 22 21 46 10 44 48 60
cls 63 42 21 48
mental retardation with osteocartilaginous abnormalities 63 42 21
coffin lowry syndrome 43
coffin syndrome 42


External Ids:

Disease Ontology8 DOID:3783
NCIt39 C84643
MeSH34 D038921
OMIM46 303600
SNOMED-CT56 15182000
MESH via Orphanet35 D038921
ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet57 15182000
UMLS via Orphanet61 C0265252

Related Diseases for Coffin-Lowry Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Coffin-Lowry Syndrome:



Diseases related to coffin-lowry syndrome

Clinical Features for Coffin-Lowry Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

303600

Clinical synopsis from OMIM:

303600

Symptoms:

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

Drugs & Therapeutics for Coffin-Lowry Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
See all sources

Genetic tests related to Coffin-Lowry Syndrome:

id Genetic test Affiliating Genes
1 Coffin-Lowry Syndrome20 22 RPS6KA3

Anatomical Context for Coffin-Lowry Syndrome

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32MalaCards
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MalaCards organs/tissues related to Coffin-Lowry Syndrome:

32
Bone, Heart, Kidney, Eye, Skin, Cerebellum, Brain, Testes

Animal Models for Coffin-Lowry Syndrome or affiliated genes

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Publications for Coffin-Lowry Syndrome

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50PubMed
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Articles related to Coffin-Lowry Syndrome:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
Mitral and tricuspid valve surgery for Coffin-Lowry syndrome. (23873216)
2013
2
Defective synaptic transmission and structure in the dentate gyrus and selective fear memory impairment in the Rsk2 mutant mouse model of Coffin-Lowry syndrome. (23742761)
2013
3
Hypoplastic root cementum and premature loss of primary teeth in Coffin-Lowry syndrome: a case report. (21781198)
2012
4
A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome. (21614984)
2011
5
Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin-Lowry syndrome. (21116650)
2011
6
Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern. (22009732)
2011
7
The Coffin-Lowry syndrome: a case report and review of the literature. (20707959)
2010
8
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
9
The Coffin-Lowry syndrome-associated protein RSK2 controls neuroendocrine secretion through the regulation of phospholipase D1 at the exocytotic sites. (19161391)
2009
10
Dopaminergic system dysregulation in the mrsk2_KO mouse, an animal model of the Coffin-Lowry syndrome. (18823370)
2008
11
The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient. (17717706)
2007
12
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome. (17318637)
2007
13
Treatment of drop attacks in Coffin-Lowry syndrome with the use of sodium oxybate. (17950427)
2007
14
Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. (16879200)
2006
15
Treatment of drop episodes in Coffin-Lowry syndrome. (16021355)
2006
16
RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes. (15668050)
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
Stimulus-induced drop episodes in Coffin-Lowry syndrome. (12612271)
2003
21
MRI and MRS of Coffin-Lowry syndrome: a case report. (12739239)
2003
22
Coffin-Lowry syndrome: clinical and molecular features. (12362025)
2002
23
X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1). (11896450)
2002
24
Coffin-Lowry syndrome in a patient from the Cook Islands confirmed by the presence of a unique mutation. (12439904)
2002
25
Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin-Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning. (12393804)
2002
26
Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response. (11022143)
2000
27
Coffin-Lowry syndrome and premature tooth loss: a case report. (10826053)
2000
28
Cardiac involvement in Coffin-Lowry syndrome. (10342551)
1999
29
New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome. (9610000)
1998
30
"Cataplexy" in Coffin-Lowry syndrome. (9719387)
1998
31
Germline mosaicism in Coffin-Lowry syndrome. (9887375)
1998
32
Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam. (9744638)
1998
33
Late-onset sensorineural hearing loss in Coffin-Lowry syndrome. (9646311)
1998
34
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. (8955270)
1996
35
Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus: unusual early clinical signs in Coffin-Lowry syndrome. (8937775)
1996
36
Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers. (8588856)
1995
37
Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22. (8585574)
1995
38
Callosal dysgenesis in a patient with Coffin-Lowry syndrome. (7927588)
1994
39
The association between Coffin-Lowry syndrome and psychosis: a family study. (7841685)
1994
40
Coffin-Lowry Syndrome (20301520)
1993
41
Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2. (1349200)
1992
42
Coffin-Lowry syndrome associated with calcium pyrophosphate crystal deposition in the ligamenta flava. (1735205)
1992
43
Calcified ligamenta flava in a patient with Coffin-Lowry syndrome: biochemical analysis of glycosaminoglycans. (2398636)
1990
44
A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter. (3177468)
1988
45
Brief clinico-genetic report: the Coffin-Lowry syndrome. (3659816)
1987
46
Autopsy findings in two adult siblings with Coffin-Lowry syndrome. (3130866)
1987
47
Abnormal proteodermatan sulfate in three patients with Coffin-Lowry syndrome. (6646906)
1983
48
Brief clinical report: early recognition of the Coffin-Lowry syndrome. (7282775)
1981
49
The Coffin-Lowry syndrome: a facio digital mental retardation syndrome: a case report. (1278980)
1976
50
The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome. (1133653)
1975

Genetic Variations for Coffin-Lowry Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Coffin-Lowry Syndrome:

62 (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

Expression for genes affiliated with Coffin-Lowry Syndrome

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1BioGPS, 15Gene 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:
52R&D Systems, 12EMD Millipore, 51QIAGEN, 37NCBI BioSystems Database, 53Reactome, 29KEGG, 59Tocris Bioscience, 4Cell Signaling Technology
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Pathways related to Coffin-Lowry Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 81)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6FOS, RPS6KA1, RPS6KA3, CREB1
2
Hide members
9.5FOS, ATF4, CREB1, MAPK10
39.5MAPK10, ATF4, FOS, CREB1
4
Hide members
9.5ATF4, CREB1, MAPK10, FOS
5
Hide members
9.5CREB1, RPS6KA1, ATF4, MAPK10
69.4FOS, RPS6KA1, PLD1, CREB1
7
Hide members
9.3MAPKAP1, MAPK10, FOS, CREB1, RPS6KB2
8
Development Prolactin receptor signaling
Hide members
9.2MAPK10, RPS6KA2, FOS, CREB1
99.2RPS6KA2, CREB1, RPS6KA3, RPS6KA1
10
Development A2B receptor- action via G-protein alpha s
Hide members
9.0MAPK10, RPS6KA2, RPS6KA1, CREB1, RPS6KA3
118.9RPS6KA1, RPS6KA5, CREB1, FOS
12
Development Endothelin-1/EDNRA signaling
Hide members
8.9RPS6KB2, ATF4, CREB1, PLD1, FOS, MAPK10
13
Hide members
8.9CREB1, RPS6KA2, RPS6KA1, RPS6KA6, RPS6KA3
14
Hide members
8.9RPS6KA2, RPS6KA1, RPS6KA6, RPS6KA3, CREB1
15
Hide members
8.9RPS6KA6, MAPK10, RPS6KA3, RPS6KA2, RPS6KA1
16
Hide members
8.9MAPK10, RPS6KA2, RPS6KA1, RPS6KA6, RPS6KA3
17
Hide members
8.9RPS6KA6, RPS6KB2, RPS6KA2, RPS6KA3, RPS6KA1
18
Hide members
8.7RPS6KA3, RPS6KA2, RPS6KA1, MAPK10, CREB1, FOS
198.7MAPK10, ATF4, CREB1, RPS6KA5, FOS
20
Hide members
8.6RPS6KA2, MAPK10, RPS6KA1, RPS6KA6, RPS6KA3, FOS
21
Development FGF-family signaling
Hide members
8.6CREB1, MAPK10, PLD1, RPS6KA2, RPS6KA3, RPS6KA1
228.5RPS6KA3, RPS6KA5, FOS, CREB1, MAPK10, RPS6KA1
238.4PLD1, FOS, RPS6KA3, MAPKAP1, CREB1, RPS6KA5
24
Development Ligand-independent activation of ESR1 and ESR2
Hide members
8.4RPS6KA2, RPS6KA1, CREB1, RPS6KA5, RPS6KA3
25
Hide members
8.4SKP1, RPS6KA2, RPS6KA1, RPS6KA6, MAPK10, RPS6KA3
26
Hide members
8.3ATF4, CREB1, FOS, RPS6KA1, RPS6KA3, RPS6KA2
27
Hide members
8.3RPS6KA5, CREB1, ATF4, MAPK10, FOS, PLD1
28
Hide members
8.2MAPK10, RPS6KA2, FOS, PLD1, RPS6KA1, RPS6KA6
298.1RPS6KA3, RPS6KA5, FOS, MAPK10, RPS6KA1, RPS6KA2
30
Hide members
8.1CREB1, FOS, RPS6KA3, ATF4, MAPK10, RPS6KA2
31
Hide members
8.1MAPK10, ATF4, CREB1, FOS, RPS6KA3, RPS6KA6
32
Hide members
8.1RPS6KA1, RPS6KA6, RPS6KA3, RPS6KA5, CREB1, RPS6KA2
33
Hide members
8.1RPS6KA6, RPS6KA2, RPS6KA1, RPS6KA3, RPS6KA5, CREB1
34
Development Dopamine D2 receptor transactivation of EGFR
Hide members
8.0RPS6KA5, RPS6KA3, RPS6KA6, RPS6KB2, RPS6KA2, RPS6KA1
35
Hide members
7.9RPS6KA1, RPS6KB2, RPS6KA3, RPS6KA5, CREB1, MAPKAP1
36
Hide members
7.9CREB1, FOS, RPS6KA5, RPS6KA3, RPS6KA1, RPS6KA2
37
Hide members
7.9MAPK10, RPS6KA2, RPS6KA3, CREB1, FOS, RPS6KA5
38
Hide members
7.8RPS6KA5, RPS6KA6, RPS6KA2, RPS6KA1, FOS, MAPK10
397.7CREB1, PLD1, RPS6KA2, RPS6KA1, RPS6KA3, FOS
40
Hide members
7.6RPS6KA6, RPS6KA3, RPS6KB2, RPS6KA1, MAPK10, FOS
417.6RPS6KA2, RPS6KA1, RPS6KB2, RPS6KA6, RPS6KA5, MAPK10
42
Hide members
7.6RPS6KA5, MAPK10, ATF4, CREB1, FOS, RPS6KA3
437.5RPS6KA3, ATF4, RPS6KA2, RPS6KA1, MAPK10, CREB1
44
Hide members
7.5RPS6KA3, MAPK10, RPS6KA2, RPS6KA1, RPS6KA6, RPS6KA5
45
Hide members
7.4RPS6KA1, CREB1, FOS, RPS6KA5, RPS6KA3, RPS6KB2
46
Hide members
7.3CREB1, FOS, RPS6KA5, RPS6KA6, ATF4, RPS6KA1
47
Hide members
7.3ATF4, RPS6KB2, CREB1, RPS6KA2, RPS6KA1, RPS6KA6
48
Translation Insulin regulation of translation
Hide members
7.2MAPK10, PHKA2, RPS6KB2, RPS6KA2, RPS6KA6, RPS6KA3
49
Hide members
6.9RPS6KA1, FOS, CREB1, RPS6KA3, RPS6KA6, MAPK10
50
Hide members
6.9ATF4, MAPK10, RPS6KA2, CREB1, PLD1, RPS6KA1

Compounds for genes affiliated with Coffin-Lowry Syndrome

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44Novoseek, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Coffin-Lowry Syndrome according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1methyl 2,5-dihydroxycinnamate4410.3MAPK10, FOS
2kn 934410.3MAPK10, FOS
3kn6244 2811.3CREB1, FOS
4chelerythrine4410.1MAPK10, CREB1, FOS
5bisindolylmaleimide4410.1CREB1, MAPK10, FOS
615-deoxy-delta-12,14-prostaglandin j24410.1FOS, CREB1, MAPK10
7ag 14784410.0MAPK10, FOS, CREB1
81-(5-isoquinolinylsulfonyl)-2-methylpiperazine4410.0MAPK10, FOS
9curcumin449.9FOS, PHKA2, CREB1, MAPK10
10gf 109203x44 5910.8PLD1, FOS, CREB1, MAPK10
11wortmannin449.7CREB1, FOS, RPS6KA3, RPS6KB2, MAPK10
12morphine44 49 28 1112.7MAPK10, FOS, CREB1
13n acetylcysteine449.7MAPK10, ATF4, CREB1, FOS
14nmda44 2810.7FOS, RPS6KA3, MAPK10, CREB1
15glycogen44 2410.7RPS6KA1, PDHA1, PHKA2, MAPK10, CREB1
1612-o-tetradecanoylphorbol 13-acetate449.6MAPK10, CREB1, FOS, PLD1
17brd 7389599.5RPS6KA1, RPS6KA6, RPS6KA3, RPS6KA2
18pf 4708671599.5RPS6KA2, RPS6KA1, RPS6KA3, RPS6KA6
19sl 0101-1599.5RPS6KA3, RPS6KA2, RPS6KA1, RPS6KA6
20rapamycin449.4MAPK10, RPS6KA3, RPS6KA1, ATF4, RPS6KB2, CREB1
21anisomycin44 1110.3MAPK10, RPS6KA5, FOS, CREB1
22ly294002449.2RPS6KA1, CREB1, MAPK10, FOS
23sb 20358044 5910.2FOS, MAPK10, CREB1, RPS6KA5
24phosphoinositide449.1RPS6KA1, PLD1, MAPK10, CREB1, RPS6KB2, RPS6KA3
25atp44 2810.0RPS6KA3, PHKA2, CREB1, PDHA1, RPS6KA1, SKP1
26phosphatidylinositol449.0ATF4, MAPK10, FOS, RPS6KA1, RPS6KB2, PLD1
27pd 98,059448.9MAPK10, CREB1, FOS, RPS6KA5, RPS6KA3, RPS6KA1
28cyclic amp44 249.7ATF4, CREB1, RPS6KA5, FOS, MAPK10, RPS6KA1
29h2o2448.7RPS6KA5, PLD1, FOS, CREB1, MAPK10
30calcium44 49 11 2410.9RPS6KA3, FOS, PLD1, MAPK10, ATF4, CREB1
31tyrosine447.8RPS6KA1, PDHA1, RPS6KA5, PLD1, FOS, PHKA2
32threonine447.7RPS6KA2, RPS6KA1, RPS6KB2, RPS6KA3, PLD1, MAPK10
33Adenosine triphosphate11 248.3SRPK1, NEK4, SRPK3, RPS6KA5, RPS6KA3, RPS6KA6
34adp44 28 248.9PLD1, PDHA1, RPS6KA5, SRPK3, SRPK1, SRPK2
35magnesium44 11 248.6MAPK10, NEK4, CREB1, RPS6KA5, RPS6KA6, RPS6KA1
36serine446.4FOS, RPS6KA3, RPS6KA5, CREB1, ATF4, MAPK10

GO Terms for genes affiliated with Coffin-Lowry Syndrome

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16Gene Ontology
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Cellular components related to Coffin-Lowry Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058297.6RPS6KA1, RPS6KA6, RPS6KA3, FOS, PHKA2, MAPK10
2nucleoplasmGO:0056546.2SKP1, RPS6KA2, RPS6KA1, RPS6KB2, RPS6KA6, RPS6KA3

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1regulation of translation in response to stressGO:04355510.2RPS6KA1, RPS6KA3
2regulation of DNA-dependent transcription in response to stressGO:0436209.9RPS6KA3, RPS6KA1
3Fc-epsilon receptor signaling pathwayGO:0380959.5CREB1, MAPKAP1, MAPK10, RPS6KB2, FOS
4regulation of mRNA splicing, via spliceosomeGO:0480249.5SRPK2, SRPK1
5positive regulation of viral genome replicationGO:0450709.5SRPK1, SRPK2
6synaptic transmissionGO:0072689.0RPS6KA6, RPS6KA1, RPS6KA2, CREB1, RPS6KA3
7epidermal growth factor receptor signaling pathwayGO:0071738.7MAPKAP1, CREB1, RPS6KA5, RPS6KB2
8signal transductionGO:0071658.6RPS6KA2, RPS6KA3, CREB1, MAPK10, RPS6KB2, RPS6KA1
9positive regulation of transcription from RNA polymerase II promoterGO:0459448.5RPS6KA1, FOS, CREB1, ATF4, RPS6KA5, RPS6KA3
10axon guidanceGO:0074118.3CREB1, RPS6KA5, RPS6KA3, RPS6KA6, RPS6KA1, RPS6KA2
11stress-activated MAPK cascadeGO:0514038.3RPS6KA1, RPS6KA3, RPS6KA5, FOS, CREB1, MAPK10
12toll-like receptor 5 signaling pathwayGO:0341468.3RPS6KA5, RPS6KA2, RPS6KA1, MAPK10, CREB1, FOS
13toll-like receptor 10 signaling pathwayGO:0341668.3RPS6KA3, RPS6KA1, RPS6KA2, RPS6KA5, FOS, CREB1
14toll-like receptor TLR6:TLR2 signaling pathwayGO:0381248.3RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, FOS, CREB1
15toll-like receptor TLR1:TLR2 signaling pathwayGO:0381238.3MAPK10, CREB1, FOS, RPS6KA3, RPS6KA1, RPS6KA2
16toll-like receptor 9 signaling pathwayGO:0341628.2FOS, CREB1, MAPK10, RPS6KA3, RPS6KA1, RPS6KA2
17toll-like receptor 2 signaling pathwayGO:0341348.2RPS6KA2, RPS6KA1, RPS6KA3, RPS6KA5, FOS, CREB1
18TRIF-dependent toll-like receptor signaling pathwayGO:0356668.2MAPK10, CREB1, FOS, RPS6KA5, RPS6KA3, RPS6KA1
19MyD88-independent toll-like receptor signaling pathwayGO:0027568.2CREB1, MAPK10, RPS6KA2, RPS6KA1, RPS6KA3, RPS6KA5
20MyD88-dependent toll-like receptor signaling pathwayGO:0027558.2MAPK10, FOS, RPS6KA5, RPS6KA3, RPS6KA1, RPS6KA2
21toll-like receptor 3 signaling pathwayGO:0341388.2FOS, RPS6KA2, RPS6KA1, RPS6KA3, RPS6KA5, CREB1
22toll-like receptor 4 signaling pathwayGO:0341428.2MAPK10, CREB1, FOS, RPS6KA5, RPS6KA3, RPS6KA2
23toll-like receptor signaling pathwayGO:0022248.2RPS6KA5, FOS, RPS6KA3, RPS6KA1, RPS6KA2, MAPK10
24neurotrophin TRK receptor signaling pathwayGO:0480118.2RPS6KA1, RPS6KA3, MAPKAP1, CREB1, RPS6KA2, RPS6KB2
25protein phosphorylationGO:0064688.1NEK4, RPS6KA5, CREB1, SRPK2, SRPK1, SRPK3
26intracellular protein kinase cascadeGO:0072438.0RPS6KA2, SRPK2, SRPK1, RPS6KA5, RPS6KA6
27innate immune responseGO:0450876.8RPS6KA2, RPS6KB2, RPS6KA3, RPS6KA5, RPS6KA1, FOS

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

idNameGO IDScoreTop Affiliating Genes
1ribosomal protein S6 kinase activityGO:0047119.3RPS6KB2, RPS6KA2
2protein kinase activityGO:0046728.4SRPK1, RPS6KA5, RPS6KA3, RPS6KA6, RPS6KB2
3magnesium ion bindingGO:0002877.3SRPK2, RPS6KA3, SRPK1, RPS6KA6, RPS6KA1, RPS6KA2
4protein serine/threonine kinase activityGO:0046746.6SRPK1, SRPK3, NEK4, RPS6KA5, RPS6KA3, RPS6KA6
5ATP bindingGO:0055246.2NEK4, MAPK10, SRPK3, SRPK1, RPS6KA3, RPS6KA2
6protein bindingGO:0055155.6SRPK2, SRPK1, SRPK3, PLD1, MAPK10, ATF4

Products for genes affiliated with Coffin-Lowry Syndrome

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  • Proteins
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Sources for Coffin-Lowry Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet