CLS
MCID: CFF002
MIFTS: 55

Coffin-Lowry Syndrome (CLS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Bone diseases, Mental diseases

Aliases & Classifications for Coffin-Lowry Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Coffin-Lowry Syndrome:

Name: Coffin-Lowry Syndrome 52 11 23 48 24 25 54 70 12 50 39 13 68
Cls 48 25 54 70
Mental Retardation with Osteocartilaginous Abnormalities 48 25
 
Coffin Lowry Syndrome 49 27
Coffin Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
coffin-lowry syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal

HPO:

64
coffin-lowry syndrome:
Inheritance: x-linked dominant inheritance, sporadic
Mortality/Aging: death in early adulthood

Classifications:



External Ids:

OMIM52 303600
Disease Ontology11 DOID:3783
MeSH39 D038921
NCIt45 C84643
Orphanet54 ORPHA192
SNOMED-CT62 15182000
MESH via Orphanet40 D038921
UMLS via Orphanet69 C0265252
ICD10 via Orphanet31 Q87.0
MedGen37 C0265252

Summaries for Coffin-Lowry Syndrome

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NINDS:49 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, seizures and Array. An important gene associated with Coffin-Lowry Syndrome is RPS6KA3 (Ribosomal Protein S6 Kinase A3), and among its related pathways are BDNF-TrkB Signaling and VEGFR3 signaling in lymphatic endothelium. Affiliated tissues include kidney, eye and heart, and related mouse phenotypes are Decreased viability and Increased cell viability after pRB stimulation.

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.

NIH Rare Diseases:48 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

OMIM:52 Coffin-Lowry syndrome is a rare form of X-linked mental retardation characterized by skeletal malformations, growth... (303600) more...

UniProtKB/Swiss-Prot:70 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.

Wikipedia:71 Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe... more...

GeneReviews for NBK1346

Related Diseases for Coffin-Lowry Syndrome

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Graphical network of the top 20 diseases related to Coffin-Lowry Syndrome:



Diseases related to coffin-lowry syndrome

Symptoms & Phenotypes for Coffin-Lowry Syndrome

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Symptoms by clinical synopsis from OMIM:

303600

Clinical features from OMIM:

303600

Human phenotypes related to Coffin-Lowry Syndrome:

 54 64 (show all 96)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide mouth64 54 Frequent (79-30%) HP:0000154
2 thick lower lip vermilion64 54 Very frequent (99-80%) HP:0000179
3 narrow palate64 54 Frequent (79-30%) HP:0000189
4 open mouth64 54 Very frequent (99-80%) HP:0000194
5 high palate64 54 Frequent (79-30%) HP:0000218
6 everted lower lip vermilion64 54 Very frequent (99-80%) HP:0000232
7 microcephaly64 54 Frequent (79-30%) HP:0000252
8 coarse facial features64 54 Very frequent (99-80%) HP:0000280
9 epicanthus64 54 Very frequent (99-80%) HP:0000286
10 hypertelorism64 54 Very frequent (99-80%) HP:0000316
11 hypoplasia of the maxilla64 54 Frequent (79-30%) HP:0000327
12 sensorineural hearing impairment64 54 Occasional (29-5%) HP:0000407
13 protruding ear64 54 Frequent (79-30%) HP:0000411
14 wide nose64 54 Frequent (79-30%) HP:0000445
15 anteverted nares64 54 Very frequent (99-80%) HP:0000463
16 strabismus64 54 Occasional (29-5%) HP:0000486
17 downslanted palpebral fissures64 54 Very frequent (99-80%) HP:0000494
18 cataract64 54 Occasional (29-5%) HP:0000518
19 optic atrophy64 54 Occasional (29-5%) HP:0000648
20 hypodontia64 54 Very frequent (99-80%) HP:0000668
21 delayed eruption of teeth64 54 Occasional (29-5%) HP:0000684
22 widely spaced teeth64 54 Very frequent (99-80%) HP:0000687
23 pectus excavatum64 54 Very frequent (99-80%) HP:0000767
24 pectus carinatum64 54 Very frequent (99-80%) HP:0000768
25 abnormal diaphysis morphology64 54 Very frequent (99-80%) HP:0000940
26 brachydactyly syndrome64 54 Very frequent (99-80%) HP:0001156
27 large hands64 54 Very frequent (99-80%) HP:0001176
28 tapered finger64 54 Very frequent (99-80%) HP:0001182
29 intellectual disability64 54 Very frequent (99-80%) HP:0001249
30 seizures64 54 Occasional (29-5%) HP:0001250
31 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
32 hypertonia54 Frequent (79-30%)
33 gait disturbance64 54 Frequent (79-30%) HP:0001288
34 muscle weakness64 54 Occasional (29-5%) HP:0001324
35 broad finger64 54 Very frequent (99-80%) HP:0001500
36 redundant skin64 54 Frequent (79-30%) HP:0001582
37 abnormality of the mitral valve64 54 Occasional (29-5%) HP:0001633
38 abnormality of the aortic valve64 54 Occasional (29-5%) HP:0001646
39 abnormality of the tricuspid valve64 54 Occasional (29-5%) HP:0001702
40 pes planus64 54 Frequent (79-30%) HP:0001763
41 hypoplastic fingernail64 54 Frequent (79-30%) HP:0001804
42 hyperconvex fingernails64 54 Frequent (79-30%) HP:0001812
43 frontal bossing64 54 Very frequent (99-80%) HP:0002007
44 ventriculomegaly64 54 Frequent (79-30%) HP:0002119
45 cerebral cortical atrophy64 54 Occasional (29-5%) HP:0002120
46 neurological speech impairment64 54 Very frequent (99-80%) HP:0002167
47 progressive spasticity64 54 Frequent (79-30%) HP:0002191
48 abnormality of neuronal migration64 54 Occasional (29-5%) HP:0002269
49 scoliosis64 54 Very frequent (99-80%) HP:0002650
50 delayed skeletal maturation64 54 Very frequent (99-80%) HP:0002750
51 kyphosis64 54 Very frequent (99-80%) HP:0002808
52 narrow iliac wings64 54 Frequent (79-30%) HP:0002868
53 skeletal muscle atrophy64 54 Occasional (29-5%) HP:0003202
54 abnormal form of the vertebral bodies64 54 Very frequent (99-80%) HP:0003312
55 short stature64 54 Very frequent (99-80%) HP:0004322
56 craniofacial hyperostosis64 54 Very frequent (99-80%) HP:0004493
57 depressed nasal bridge64 54 Very frequent (99-80%) HP:0005280
58 joint hyperflexibility64 54 Very frequent (99-80%) HP:0005692
59 advanced eruption of teeth64 54 Occasional (29-5%) HP:0006288
60 abnormality of dental morphology64 54 Very frequent (99-80%) HP:0006482
61 aplasia/hypoplasia of the cerebellum64 54 Occasional (29-5%) HP:0007360
62 aplasia/hypoplasia of the corpus callosum64 54 Occasional (29-5%) HP:0007370
63 abnormality of retinal pigmentation64 54 Occasional (29-5%) HP:0007703
64 feeding difficulties in infancy64 54 Frequent (79-30%) HP:0008872
65 pseudoepiphyses of the metacarpals64 54 Frequent (79-30%) HP:0009193
66 short distal phalanx of finger64 54 Frequent (79-30%) HP:0009882
67 thick nasal alae64 54 Very frequent (99-80%) HP:0009928
68 short metacarpal64 54 Frequent (79-30%) HP:0010049
69 sleep apnea64 54 Occasional (29-5%) HP:0010535
70 severe global developmental delay64 54 Very frequent (99-80%) HP:0011344
71 death in early adulthood54 Occasional (29-5%)
72 self-injurious behavior64 54 Occasional (29-5%) HP:0100716
73 inguinal hernia64 HP:0000023
74 uterine prolapse64 HP:0000139
75 mandibular prognathia64 HP:0000303
76 prominent supraorbital ridges64 HP:0000336
77 telecanthus64 HP:0000506
78 thick eyebrow64 HP:0000574
79 dental malocclusion64 HP:0000689
80 single transverse palmar crease64 HP:0000954
81 cutis marmorata64 HP:0000965
82 cutis laxa64 HP:0000973
83 broad palm64 HP:0001169
84 hyperextensibility of the finger joints64 HP:0001187
85 delayed closure of the anterior fontanelle64 HP:0001476
86 mitral regurgitation64 HP:0001653
87 rectal prolapse64 HP:0002035
88 coarse hair64 HP:0002208
89 highly arched eyebrow64 HP:0002553
90 coxa valga64 HP:0002673
91 thickened calvaria64 HP:0002684
92 decreased body weight64 HP:0004325
93 drumstick terminal phalanges64 HP:0006129
94 lumbar kyphosis64 HP:0008454
95 thick nasal septum64 HP:0009746
96 bifid sternum64 HP:0010309

UMLS symptoms related to Coffin-Lowry Syndrome:


seizures

GenomeRNAi Phenotypes related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00381-A-110.0PHKA2, RPS6KA1, RPS6KA3
2GR00230-A-19.8RPS6KA1, RPS6KA3, RPS6KB2

MGI Mouse Phenotypes related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.3CREB1, EDNRB, PDHA1, RPS6KA3, RPS6KB2

Drugs & Therapeutics for Coffin-Lowry Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Coffin-Lowry Syndrome


Cochrane evidence based reviews: coffin-lowry syndrome

Genetic Tests for Coffin-Lowry Syndrome

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Genetic tests related to Coffin-Lowry Syndrome:

id Genetic test Affiliating Genes
1 Coffin-Lowry Syndrome27 24 RPS6KA3

Anatomical Context for Coffin-Lowry Syndrome

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MalaCards organs/tissues related to Coffin-Lowry Syndrome:

36
Kidney, Eye, Heart, Bone, Skin, Skeletal muscle, Cerebellum

Publications for Coffin-Lowry Syndrome

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Articles related to Coffin-Lowry Syndrome:

(show top 50)    (show all 122)
idTitleAuthorsYear
1
Foramen magnum compression in Coffin-Lowry syndrome: A case report. (28190284)
2017
2
Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome. (26914125)
2016
3
Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome. (26297997)
2016
4
Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation. (26927527)
2016
5
Eight years of follow-up after laminectomy of calcium pyrophosphate crystal deposition in the cervical yellow ligament of patient with Coffin-Lowry syndrome: A case report. (27495083)
2016
6
Mechanical ventilation in Coffin-Lowry syndrome: a case report. (28099645)
2016
7
Difficult airway management using the Pentax-AWS Airwayscope with a thin Intlock and bronchofiberscope in a patient with Coffin-Lowry syndrome. (26897436)
2016
8
A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings. (26043507)
2015
9
Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome. (26279655)
2015
10
Consider the neuro-cardiac continuum of Coffin-Lowry syndrome! (25974232)
2015
11
Loss of the Coffin-Lowry syndrome-associated gene RSK2 alters ERK activity, synaptic function and axonal transport in Drosophila motoneurons. (26398944)
2015
12
Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome. (25667906)
2014
13
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. (25044551)
2014
14
Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father. (25118007)
2014
15
Mitral and tricuspid valve surgery for Coffin-Lowry syndrome. (23873216)
2013
16
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
17
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
18
Ocular surgery in a child with Coffin Lowry syndrome: Anesthetic concerns. (23493967)
2013
19
Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome. (23261961)
2013
20
The Coffin-Lowry Syndrome-Associated Protein RSK2 Regulates Neurite Outgrowth through Phosphorylation of Phospholipase D1 (PLD1) and Synthesis of Phosphatidic Acid. (24336713)
2013
21
Hypoplastic root cementum and premature loss of primary teeth in Coffin-Lowry syndrome: a case report. (21781198)
2012
22
Stimulus-induced drop episodes in Coffin-Lowry syndrome. (22490425)
2012
23
A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome. (21614984)
2011
24
Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin-Lowry syndrome. (21116650)
2011
25
Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern. (22009732)
2011
26
Altered ERK/MAPK signaling in the hippocampus of the mrsk2_KO mouse model of Coffin-Lowry syndrome. (21838783)
2011
27
Coffin-Lowry syndrome. (19888300)
2010
28
Four novel RSK2 mutations in females with Coffin-Lowry syndrome. (20637903)
2010
29
The Coffin-Lowry syndrome: a case report and review of the literature. (20707959)
2010
30
Coffin-Lowry syndrome: a role for RSK2 in mammalian neurogenesis. (20832397)
2010
31
The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion. (21061166)
2010
32
The Coffin-Lowry syndrome-associated protein RSK2 controls neuroendocrine secretion through the regulation of phospholipase D1 at the exocytotic sites. (19161391)
2009
33
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
34
The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1. (18550821)
2008
35
Dopaminergic system dysregulation in the mrsk2_KO mouse, an animal model of the Coffin-Lowry syndrome. (18823370)
2008
36
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome. (17318637)
2007
37
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. (17586481)
2007
38
The musculoskeletal manifestations of the Coffin-Lowry syndrome. (17195803)
2007
39
The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient. (17717706)
2007
40
Treatment of drop attacks in Coffin-Lowry syndrome with the use of sodium oxybate. (17950427)
2007
41
Deletion of the Coffin-Lowry syndrome gene Rsk2 in mice is associated with impaired spatial learning and reduced control of exploratory behavior. (17033934)
2007
42
Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. (16879200)
2006
43
Treatment of drop episodes in Coffin-Lowry syndrome. (16021355)
2006
44
A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome. (16691578)
2006
45
Coffin-Lowry syndrome: findings and dental treatment. (17249444)
2006
46
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. (17100996)
2006
47
A case of Coffin-Lowry syndrome with premature exfoliation of primary teeth. (16643544)
2006
48
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay. (16306095)
2005
49
The movement disorders of Coffin-Lowry syndrome. (15668049)
2005
50
RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes. (15668050)
2005

Variations for Coffin-Lowry Syndrome

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

70 (show all 11)
id Symbol AA change Variation ID SNP ID
1RPS6KA3p.Gly75ValVAR_006189rs122454124
2RPS6KA3p.Val82PheVAR_006190rs122454126
3RPS6KA3p.Arg114TrpVAR_006191rs122454127
4RPS6KA3p.His127GlnVAR_006192
5RPS6KA3p.Asp154TyrVAR_006193
6RPS6KA3p.Ala225ValVAR_006194
7RPS6KA3p.Ser227AlaVAR_006195rs122454125
8RPS6KA3p.Gly431AspVAR_006196
9RPS6KA3p.Arg729GlnVAR_006197rs28935171
10RPS6KA3p.Ile189LysVAR_065894rs122454130
11RPS6KA3p.Phe268SerVAR_065896rs122454131

Clinvar genetic disease variations for Coffin-Lowry Syndrome:

5 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1RPS6KA3RPS6KA3, 187-BP DEL, NT406deletionPathogenic
2RPS6KA3NM_ 004586.2(RPS6KA3): c.224G> T (p.Gly75Val)SNVPathogenicrs122454124GRCh37Chr X, 20227425: 20227425
3RPS6KA3NM_ 004586.2(RPS6KA3): c.679T> G (p.Ser227Ala)SNVPathogenicrs122454125GRCh37Chr X, 20206041: 20206041
4RPS6KA3NM_ 004586.2(RPS6KA3): c.244G> T (p.Val82Phe)SNVPathogenicrs122454126GRCh37Chr X, 20222221: 20222221
5RPS6KA3NM_ 004586.2(RPS6KA3): c.326-1G> CSNVPathogenicrs587776755GRCh37Chr X, 20213264: 20213264
6RPS6KA3NM_ 004586.2(RPS6KA3): c.340C> T (p.Arg114Trp)SNVPathogenicrs122454127GRCh37Chr X, 20213249: 20213249
7RPS6KA3RPS6KA3, 2-BP DEL, 451AGdeletionPathogenic
8RPS6KA3NM_ 004586.2(RPS6KA3): c.2065C> T (p.Gln689Ter)SNVPathogenicrs122454128GRCh37Chr X, 20174262: 20174262
9RPS6KA3NM_ 004586.2(RPS6KA3): c.2186G> A (p.Arg729Gln)SNVPathogenic/ Likely pathogenicrs28935171GRCh37Chr X, 20173553: 20173553
10RPS6KA3NM_ 004586.2(RPS6KA3): c.566T> A (p.Ile189Lys)SNVPathogenicrs122454130GRCh37Chr X, 20211632: 20211632
11RPS6KA3RPS6KA3, IVS6, A-G, +3SNVPathogenic
12RPS6KA3RPS6KA3, IVS5, A-G, -11SNVPathogenic
13RPS6KA3RPS6KA3, 1-BP DEL, 2144CdeletionPathogenic
14RPS6KA3RPS6KA3, IVS12, A-G, -2SNVPathogenic
15RPS6KA3RPS6KA3, IVS3, L1 INS, -8insertionPathogenic
16RPS6KA3NM_ 004586.2(RPS6KA3): c.803T> C (p.Phe268Ser)SNVPathogenicrs122454131GRCh37Chr X, 20204456: 20204456
17RPS6KA3RPS6KA3, 3-BP DEL, 1428TATdeletionPathogenic
18RPS6KA3RPS6KA3, DUP EXONS 17-20, NT1959duplicationPathogenic
19RPS6KA3RPS6KA3, 7.2-KB DELdeletionPathogenic
20RPS6KA3NM_ 004586.2(RPS6KA3): c.913C> T (p.Arg305Ter)SNVPathogenicrs869320705GRCh37Chr X, 20195135: 20195135
21RPS6KA3NM_ 004586.2(RPS6KA3): c.1539_ 1542delACGA (p.Glu515Profs)deletionPathogenicrs886043293GRCh37Chr X, 20185767: 20185770

Expression for genes affiliated with Coffin-Lowry Syndrome

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

Pathways for genes affiliated with Coffin-Lowry Syndrome

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Pathways related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:

(show all 45)
idSuper pathwaysScoreTop Affiliating Genes
19.7CREB1, RPS6KA1
29.7CREB1, RPS6KA1
39.7CREB1, RPS6KA1
4
Show member pathways
9.6FOS, RPS6KA3
59.6CREB1, FOS
69.6CREB1, FOS
79.6CREB1, FOS
89.6CREB1, FOS
99.6CREB1, FOS
10
Show member pathways
9.6CREB1, FOS
119.5FOS, RPS6KA1
129.5CREB1, RPS6KB2
139.4EDNRB, FOS
14
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
15
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
16
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
179.4CREB1, RPS6KA1, RPS6KA3
18
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
19
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
209.3CREB1, PDHA1, PHKA2
219.3CREB1, FOS, RPS6KA3
22
Show member pathways
9.2FOS, RPS6KA1, RPS6KA3
239.2FOS, RPS6KA1, RPS6KA3
24
Show member pathways
9.2FOS, RPS6KA1, RPS6KA3
259.2FOS, RPS6KA1, RPS6KA3
26
Show member pathways
9.2CREB1, FOS, RPS6KA1
27
Show member pathways
9.2CREB1, FOS, RPS6KA1
289.2CREB1, FOS, RPS6KA1
29
Show member pathways
9.2CREB1, FOS, RPS6KA1
30
Show member pathways
9.1RPS6KA1, RPS6KA3, RPS6KB2
31
Show member pathways
9.1CREB1, RPS6KA1, RPS6KB2
32
Show member pathways
9.0CREB1, FOS, RPS6KB2
33
Show member pathways
8.9FOS, RPS6KA1, RPS6KB2
34
Show member pathways
8.8CREB1, FOS, RPS6KA1, RPS6KA3
35
Show member pathways
8.8CREB1, FOS, RPS6KA1, RPS6KA3
368.8CREB1, FOS, RPS6KA1, RPS6KA3
378.8CREB1, FOS, RPS6KA1, RPS6KA3
38
Show member pathways
8.8CREB1, FOS, RPS6KA1, RPS6KA3
39
Show member pathways
8.8CREB1, FOS, RPS6KA1, RPS6KA3
40
Show member pathways
8.8CREB1, FOS, RPS6KA1, RPS6KA3
41
Show member pathways
8.7CREB1, RPS6KA1, RPS6KA3, RPS6KB2
42
Show member pathways
8.6FOS, RPS6KA1, RPS6KA3, RPS6KB2
43
Show member pathways
8.3CREB1, EDNRB, FOS, RPS6KA1, RPS6KA3
44
Show member pathways
8.2CREB1, FOS, RPS6KA1, RPS6KA3, RPS6KB2
45
Show member pathways
8.1FOS, PDHA1, PHKA2, RPS6KA1, RPS6KB2

GO Terms for genes affiliated with Coffin-Lowry Syndrome

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Biological processes related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell differentiationGO:004559710.4RPS6KA1, RPS6KA3
2regulation of DNA-templated transcription in response to stressGO:004362010.3RPS6KA1, RPS6KA3
3regulation of translation in response to stressGO:004355510.3RPS6KA1, RPS6KA3
4positive regulation of osteoclast differentiationGO:004567210.3CREB1, FOS
5agingGO:00075689.8CREB1, EDNRB, FOS
6response to lipopolysaccharideGO:00324969.1EDNRB, FOS, RPS6KA3
7protein phosphorylationGO:00064688.9CREB1, PHKA2, RPS6KA1, RPS6KA3, RPS6KB2

Molecular functions related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cysteine-type endopeptidase inhibitor activity involved in apoptotic processGO:004302710.2RPS6KA1, RPS6KA3
2RNA polymerase II activating transcription factor bindingGO:00011029.9CREB1, FOS
3transcriptional activator activity, RNA polymerase II transcription factor bindingGO:00011909.6CREB1, FOS

Sources for Coffin-Lowry Syndrome

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2CDC
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10DGIdb
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