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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42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 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 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 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways and 4-1BB Pathway. The compounds kn 93 and methyl 2,5-dihydroxycinnamate have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and kidney.

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

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.

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, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 43NINDS, 39NCIt, 34MeSH, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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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)
  • 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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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
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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, Eye, Kidney, Heart, 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
The Coffin-Lowry Syndrome-Associated Protein RSK2 Regulates Neurite Outgrowth through Phosphorylation of Phospholipase D1 (PLD1) and Synthesis of Phosphatidic Acid. (24336713)
2013
2
Ocular surgery in a child with Coffin Lowry syndrome: Anesthetic concerns. (23493967)
2013
3
Stimulus-induced drop episodes in Coffin-Lowry syndrome. (22490425)
2012
4
Altered ERK/MAPK signaling in the hippocampus of the mrsk2_KO mouse model of Coffin-Lowry syndrome. (21838783)
2011
5
The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion. (21061166)
2010
6
Coffin-Lowry syndrome. (19888300)
2010
7
The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1. (18550821)
2008
8
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. (17586481)
2007
9
The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient. (17717706)
2007
10
The musculoskeletal manifestations of the Coffin-Lowry syndrome. (17195803)
2007
11
Deletion of the Coffin-Lowry syndrome gene Rsk2 in mice is associated with impaired spatial learning and reduced control of exploratory behavior. (17033934)
2007
12
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. (17100996)
2006
13
Coffin-Lowry syndrome: findings and dental treatment. (17249444)
2006
14
RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes. (15668050)
2005
15
The movement disorders of Coffin-Lowry syndrome. (15668049)
2005
16
Cardiomyopathy in Coffin-Lowry syndrome. (15214012)
2004
17
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. (14986828)
2003
18
Coffin-Lowry syndrome. (14719793)
2003
19
Coffin-Lowry syndrome: odontologic characteristics. Review of the literature and presentation of a clinical case. (12556724)
2003
20
Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes. (12210291)
2002
21
Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome. (11992250)
2002
22
Cognitive function in Coffin-Lowry syndrome. (12030896)
2002
23
A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome. (12014383)
2002
24
Coffin-Lowry syndrome in a patient from the Cook Islands confirmed by the presence of a unique mutation. (12439904)
2002
25
Cognitive impairment in Coffin-Lowry syndrome correlates with reduced RSK2 activation. (11160957)
2001
26
Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis. (11746134)
2001
27
Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with Coffin-Lowry syndrome. (11078556)
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
"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome. (9507386)
1998
32
Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22. (8585574)
1995
33
Corpus callosum agenesis in Coffin-Lowry syndrome. (8031540)
1994
34
Coffin-Lowry syndrome with sensorineural deafness and labyrinthine anomaly. (8163917)
1994
35
Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene. (8001973)
1994
36
Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations. (7681250)
1993
37
Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2. (1349200)
1992
38
Calcified ligamenta flava in a patient with Coffin-Lowry syndrome: biochemical analysis of glycosaminoglycans. (2398636)
1990
39
A case suggesting Coffin-Lowry syndrome. (2133800)
1990
40
Enhanced accumulation of hyaluronate in the culture of skin fibroblasts from two patients with Coffin-Lowry syndrome. (2588262)
1989
41
Cardiac involvement in Coffin-Lowry syndrome. (3396606)
1988
42
Coffin-Lowry syndrome: a multicenter study. (3069251)
1988
43
Early clinical signs in Coffin-Lowry syndrome. (6541982)
1984
44
Abnormal proteodermatan sulfate in three patients with Coffin-Lowry syndrome. (6646906)
1983
45
Coffin-Lowry syndrome in an Afro-American family. (7081302)
1982
46
The Coffin-Lowry syndrome. Experience from four centres. (7116677)
1982
47
Lapsus--caveat emptor: Coffin-Lowry syndrome vs Coffin-Siris syndrome--an example of confusion compounded. (7294058)
1981
48
Coffin-Lowry syndrome in sibs. (7234901)
1981
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

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

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:0436209.9RPS6KA1, RPS6KA3
3Fc-epsilon receptor signaling pathwayGO:0380959.5MAPKAP1, MAPK10, CREB1, FOS, RPS6KB2
4regulation of mRNA splicing, via spliceosomeGO:0480249.5SRPK1, SRPK2
5positive regulation of viral genome replicationGO:0450709.5SRPK2, SRPK1
6synaptic transmissionGO:0072689.0RPS6KA2, RPS6KA1, RPS6KA6, RPS6KA3, CREB1
7epidermal growth factor receptor signaling pathwayGO:0071738.7MAPKAP1, CREB1, RPS6KA5, RPS6KB2
8signal transductionGO:0071658.6RPS6KA2, RPS6KA1, RPS6KB2, RPS6KA6, RPS6KA3, CREB1
9positive regulation of transcription from RNA polymerase II promoterGO:0459448.5RPS6KA1, RPS6KA3, RPS6KA5, FOS, CREB1, ATF4
10axon guidanceGO:0074118.3RPS6KA2, RPS6KA1, RPS6KA6, RPS6KA3, RPS6KA5, CREB1
11stress-activated MAPK cascadeGO:0514038.3MAPK10, RPS6KA2, RPS6KA1, RPS6KA3, RPS6KA5, FOS
12toll-like receptor 10 signaling pathwayGO:0341668.3CREB1, FOS, RPS6KA5, RPS6KA3, RPS6KA1, RPS6KA2
13toll-like receptor 5 signaling pathwayGO:0341468.3RPS6KA2, MAPK10, CREB1, FOS, RPS6KA5, RPS6KA3
14toll-like receptor TLR6:TLR2 signaling pathwayGO:0381248.3CREB1, FOS, RPS6KA5, RPS6KA3, RPS6KA1, RPS6KA2
15toll-like receptor TLR1:TLR2 signaling pathwayGO:0381238.3RPS6KA2, MAPK10, CREB1, FOS, RPS6KA5, RPS6KA3
16toll-like receptor 9 signaling pathwayGO:0341628.2RPS6KA2, RPS6KA1, RPS6KA3, RPS6KA5, FOS, CREB1
17toll-like receptor 2 signaling pathwayGO:0341348.2RPS6KA2, RPS6KA1, RPS6KA3, RPS6KA5, FOS, CREB1
18TRIF-dependent toll-like receptor signaling pathwayGO:0356668.2RPS6KA2, RPS6KA1, RPS6KA3, RPS6KA5, FOS, CREB1
19MyD88-independent toll-like receptor signaling pathwayGO:0027568.2RPS6KA2, RPS6KA1, RPS6KA3, RPS6KA5, FOS, CREB1
20toll-like receptor 3 signaling pathwayGO:0341388.2CREB1, FOS, RPS6KA5, RPS6KA3, RPS6KA1, RPS6KA2
21MyD88-dependent toll-like receptor signaling pathwayGO:0027558.2RPS6KA2, MAPK10, CREB1, FOS, RPS6KA5, RPS6KA3
22toll-like receptor 4 signaling pathwayGO:0341428.2RPS6KA2, RPS6KA1, RPS6KA3, RPS6KA5, FOS, CREB1
23toll-like receptor signaling pathwayGO:0022248.2RPS6KA2, RPS6KA1, RPS6KA3, RPS6KA5, FOS, CREB1
24neurotrophin TRK receptor signaling pathwayGO:0480118.2RPS6KA2, RPS6KA1, RPS6KB2, RPS6KA3, RPS6KA5, CREB1
25protein phosphorylationGO:0064688.1RPS6KA5, CREB1, NEK4, SRPK3, SRPK1, SRPK2
26intracellular protein kinase cascadeGO:0072438.0RPS6KA2, RPS6KA6, RPS6KA5, SRPK1, SRPK2
27innate immune responseGO:0450876.8RPS6KA2, RPS6KA1, RPS6KB2, RPS6KA3, RPS6KA5, 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:0046728.4RPS6KB2, RPS6KA6, RPS6KA3, RPS6KA5, SRPK1
3magnesium ion bindingGO:0002877.3RPS6KA2, RPS6KA1, RPS6KA6, RPS6KA3, RPS6KA5, SRPK1
4protein serine/threonine kinase activityGO:0046746.6SRPK2, RPS6KA2, RPS6KA1, RPS6KB2, RPS6KA6, RPS6KA3
5ATP bindingGO:0055246.2RPS6KA2, RPS6KA1, RPS6KB2, RPS6KA6, RPS6KA3, RPS6KA5
6protein bindingGO:0055155.6RPS6KA1, RPS6KA5, FOS, CREB1, ATF4, MAPK10

Products for genes affiliated with Coffin-Lowry Syndrome

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  • Antibodies
  • Proteins
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  • Antibodies

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