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

Aliases & Descriptions for Coffin-Lowry Syndrome:

Name: Coffin-Lowry Syndrome 54 12 23 50 24 25 56 66 13 52 42 14 69
Cls 50 25 56 66
Mental Retardation with Osteocartilaginous Abnormalities 50 25
Coffin Lowry Syndrome 51 29
Coffin Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
coffin-lowry syndrome
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal;

HPO:

32
coffin-lowry syndrome:
Mortality/Aging death in early adulthood
Inheritance sporadic x-linked dominant inheritance


Classifications:



External Ids:

OMIM 54 303600
Disease Ontology 12 DOID:3783
MeSH 42 D038921
NCIt 47 C84643
SNOMED-CT 64 15182000
Orphanet 56 ORPHA192
MESH via Orphanet 43 D038921
UMLS via Orphanet 70 C0265252
ICD10 via Orphanet 34 Q87.0
MedGen 40 C0265252
UMLS 69 C0265252

Summaries for Coffin-Lowry Syndrome

NINDS : 51 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, muscle weakness and hypertelorism. An important gene associated with Coffin-Lowry Syndrome is RPS6KA3 (Ribosomal Protein S6 Kinase A3), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Regulation of lipid metabolism Insulin signaling-generic cascades. Affiliated tissues include heart, bone and eye, and related phenotypes are Decreased viability and muscle

NIH Rare Diseases : 50 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

UniProtKB/Swiss-Prot : 66 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.

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.

OMIM : 54 Coffin-Lowry syndrome is a rare form of X-linked mental retardation characterized by skeletal malformations, growth... (303600) more...

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

GeneReviews: NBK1346

Related Diseases for Coffin-Lowry Syndrome

Diseases related to Coffin-Lowry Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
id Related Disease Score Top Affiliating Genes
1 symptomatic form of coffin-lowry syndrome in female carriers 12.1
2 coffin syndrome 1 11.8
3 coffin–lowry syndrome 11.1
4 van der woude syndrome 2 10.8
5 van der woude syndrome 10.8
6 cleft lip +/- cleft palate 10.8
7 cutis laxa, autosomal recessive, type iia 10.8
8 cutis laxa, autosomal recessive, type ia 10.8
9 cutis laxa, autosomal recessive, type iib 10.8
10 clostridium septicum infection 10.8
11 cystic fibrosis 10.3
12 cardiomyopathy 10.2
13 neuronitis 10.1
14 diastolic heart failure 10.1 RPS6KA1 RPS6KA3
15 coffin-siris syndrome 10.0
16 obstructive sleep apnea 10.0
17 left ventricular noncompaction 10.0
18 stickler syndrome 10.0
19 johanson-blizzard syndrome 10.0
20 sensorineural hearing loss 10.0
21 communicating hydrocephalus 10.0
22 schizophrenia 10.0
23 hydrocephalus 10.0
24 status epilepticus 10.0
25 corpus callosum agenesis 10.0
26 cervicitis 10.0
27 hydrops fetalis 10.0
28 lactic acidosis 10.0
29 myoclonus 10.0
30 sleep apnea 10.0
31 suppurative periapical periodontitis 10.0 CREB1 FOS
32 dysautonomia 10.0 CREB1 FOS
33 pancreatitis 9.9
34 gitelman syndrome 9.9
35 siberian tick typhus 9.9 CREB1 FOS
36 osteopetrosis 9.8
37 ischemia 9.8
38 adenoma 9.8
39 renal tubular acidosis 9.8
40 endotheliitis 9.8
41 hepatoblastoma 9.7
42 thyroiditis 9.7
43 epilepsy 9.7
44 cerebritis 9.7
45 hypokalemia 9.7
46 brain edema 9.6
47 diarrhea 9.6
48 prostatitis 9.6
49 acute myocardial infarction 9.6
50 cleft lip 9.6

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



Diseases related to Coffin-Lowry Syndrome

Symptoms & Phenotypes for Coffin-Lowry Syndrome

Symptoms by clinical synopsis from OMIM:

303600

Clinical features from OMIM:

303600

Human phenotypes related to Coffin-Lowry Syndrome:

56 32 (show top 50) (show all 96)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 muscle weakness 56 32 Occasional (29-5%) HP:0001324
3 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
4 pectus excavatum 56 32 Very frequent (99-80%) HP:0000767
5 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
6 high palate 56 32 Frequent (79-30%) HP:0000218
7 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
8 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
9 gait disturbance 56 32 Frequent (79-30%) HP:0001288
10 neurological speech impairment 56 32 Very frequent (99-80%) HP:0002167
11 scoliosis 56 32 Very frequent (99-80%) HP:0002650
12 kyphosis 56 32 Very frequent (99-80%) HP:0002808
13 sleep apnea 56 32 Occasional (29-5%) HP:0010535
14 self-injurious behavior 56 32 Occasional (29-5%) HP:0100716
15 narrow palate 56 32 Frequent (79-30%) HP:0000189
16 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
17 cataract 56 32 Occasional (29-5%) HP:0000518
18 widely spaced teeth 56 32 Very frequent (99-80%) HP:0000687
19 delayed skeletal maturation 56 32 Very frequent (99-80%) HP:0002750
20 craniofacial hyperostosis 56 32 Very frequent (99-80%) HP:0004493
21 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
22 pectus carinatum 56 32 Very frequent (99-80%) HP:0000768
23 pes planus 56 32 Frequent (79-30%) HP:0001763
24 microcephaly 56 32 Frequent (79-30%) HP:0000252
25 sensorineural hearing impairment 56 32 Occasional (29-5%) HP:0000407
26 anteverted nares 56 32 Very frequent (99-80%) HP:0000463
27 optic atrophy 56 32 Occasional (29-5%) HP:0000648
28 short stature 56 32 Very frequent (99-80%) HP:0004322
29 abnormality of retinal pigmentation 56 32 Occasional (29-5%) HP:0007703
30 feeding difficulties in infancy 56 32 Frequent (79-30%) HP:0008872
31 skeletal muscle atrophy 56 32 Occasional (29-5%) HP:0003202
32 thick lower lip vermilion 56 32 Very frequent (99-80%) HP:0000179
33 thick nasal alae 56 32 Very frequent (99-80%) HP:0009928
34 strabismus 56 32 Occasional (29-5%) HP:0000486
35 delayed eruption of teeth 56 32 Occasional (29-5%) HP:0000684
36 joint hyperflexibility 56 32 Very frequent (99-80%) HP:0005692
37 epicanthus 56 32 Very frequent (99-80%) HP:0000286
38 severe global developmental delay 56 32 Very frequent (99-80%) HP:0011344
39 abnormal form of the vertebral bodies 56 32 Very frequent (99-80%) HP:0003312
40 everted lower lip vermilion 56 32 Very frequent (99-80%) HP:0000232
41 abnormality of the aortic valve 56 32 Occasional (29-5%) HP:0001646
42 hyperconvex fingernails 56 32 Frequent (79-30%) HP:0001812
43 protruding ear 56 32 Frequent (79-30%) HP:0000411
44 ventriculomegaly 56 32 Frequent (79-30%) HP:0002119
45 cerebral cortical atrophy 56 32 Occasional (29-5%) HP:0002120
46 abnormality of neuronal migration 56 32 Occasional (29-5%) HP:0002269
47 aplasia/hypoplasia of the cerebellum 56 32 Occasional (29-5%) HP:0007360
48 wide mouth 56 32 Frequent (79-30%) HP:0000154
49 hypoplasia of the maxilla 56 32 Frequent (79-30%) HP:0000327
50 downslanted palpebral fissures 56 32 Very frequent (99-80%) HP:0000494

UMLS symptoms related to Coffin-Lowry Syndrome:


seizures

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.83 RPS6KA1 PHKA2
2 Decreased viability GR00221-A-2 9.83 RPS6KA1 RPS6KA3 PHKA2
3 Decreased viability GR00221-A-3 9.83 RPS6KA1 PHKA2
4 Decreased viability GR00221-A-4 9.83 RPS6KA1 PHKA2
5 Decreased viability GR00301-A 9.83 RPS6KA1
6 Decreased viability GR00342-S-1 9.83 RPS6KA1 RPS6KA3 PHKA2
7 Decreased viability GR00342-S-2 9.83 PHKA2
8 Decreased viability GR00342-S-3 9.83 PHKA2
9 Increased cell viability after pRB stimulation GR00230-A-1 8.8 RPS6KA1 RPS6KA3 RPS6KB2

MGI Mouse Phenotypes related to Coffin-Lowry Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 RPS6KB2 CREB1 EDNRB PDHA1 RPS6KA3

Drugs & Therapeutics for Coffin-Lowry Syndrome

Search Clinical Trials , NIH Clinical Center for Coffin-Lowry Syndrome

Cochrane evidence based reviews: coffin-lowry syndrome

Genetic Tests for Coffin-Lowry Syndrome

Genetic tests related to Coffin-Lowry Syndrome:

id Genetic test Affiliating Genes
1 Coffin-Lowry Syndrome 29 24 RPS6KA3

Anatomical Context for Coffin-Lowry Syndrome

MalaCards organs/tissues related to Coffin-Lowry Syndrome:

39
Heart, Bone, Eye, Kidney, Skin, Skeletal Muscle, Cerebellum

Publications for Coffin-Lowry Syndrome

Articles related to Coffin-Lowry Syndrome:

(show top 50) (show all 122)
id Title Authors Year
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

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

66 (show all 11)
id Symbol AA change Variation ID SNP ID
1 RPS6KA3 p.Gly75Val VAR_006189 rs122454124
2 RPS6KA3 p.Val82Phe VAR_006190 rs122454126
3 RPS6KA3 p.Arg114Trp VAR_006191 rs122454127
4 RPS6KA3 p.His127Gln VAR_006192
5 RPS6KA3 p.Asp154Tyr VAR_006193
6 RPS6KA3 p.Ala225Val VAR_006194
7 RPS6KA3 p.Ser227Ala VAR_006195 rs122454125
8 RPS6KA3 p.Gly431Asp VAR_006196
9 RPS6KA3 p.Arg729Gln VAR_006197 rs28935171
10 RPS6KA3 p.Ile189Lys VAR_065894 rs122454130
11 RPS6KA3 p.Phe268Ser VAR_065896 rs122454131

ClinVar genetic disease variations for Coffin-Lowry Syndrome:

6 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1 RPS6KA3 RPS6KA3, IVS12, A-G, -2 single nucleotide variant Pathogenic
2 RPS6KA3 RPS6KA3, IVS3, L1 INS, -8 insertion Pathogenic
3 RPS6KA3 RPS6KA3, 187-BP DEL, NT406 deletion Pathogenic
4 RPS6KA3 NM_004586.2(RPS6KA3): c.224G> T (p.Gly75Val) single nucleotide variant Pathogenic rs122454124 GRCh37 Chromosome X, 20227425: 20227425
5 RPS6KA3 NM_004586.2(RPS6KA3): c.679T> G (p.Ser227Ala) single nucleotide variant Pathogenic rs122454125 GRCh37 Chromosome X, 20206041: 20206041
6 RPS6KA3 NM_004586.2(RPS6KA3): c.244G> T (p.Val82Phe) single nucleotide variant Pathogenic rs122454126 GRCh37 Chromosome X, 20222221: 20222221
7 RPS6KA3 NM_004586.2(RPS6KA3): c.326-1G> C single nucleotide variant Pathogenic rs587776755 GRCh37 Chromosome X, 20213264: 20213264
8 RPS6KA3 NM_004586.2(RPS6KA3): c.340C> T (p.Arg114Trp) single nucleotide variant Pathogenic rs122454127 GRCh37 Chromosome X, 20213249: 20213249
9 RPS6KA3 RPS6KA3, 2-BP DEL, 451AG deletion Pathogenic
10 RPS6KA3 NM_004586.2(RPS6KA3): c.2065C> T (p.Gln689Ter) single nucleotide variant Pathogenic rs122454128 GRCh37 Chromosome X, 20174262: 20174262
11 RPS6KA3 NM_004586.2(RPS6KA3): c.2186G> A (p.Arg729Gln) single nucleotide variant Pathogenic/Likely pathogenic rs28935171 GRCh37 Chromosome X, 20173553: 20173553
12 RPS6KA3 NM_004586.2(RPS6KA3): c.566T> A (p.Ile189Lys) single nucleotide variant Pathogenic rs122454130 GRCh37 Chromosome X, 20211632: 20211632
13 RPS6KA3 RPS6KA3, IVS6, A-G, +3 single nucleotide variant Pathogenic
14 RPS6KA3 RPS6KA3, IVS5, A-G, -11 single nucleotide variant Pathogenic
15 RPS6KA3 RPS6KA3, 1-BP DEL, 2144C deletion Pathogenic
16 RPS6KA3 NM_004586.2(RPS6KA3): c.803T> C (p.Phe268Ser) single nucleotide variant Pathogenic rs122454131 GRCh37 Chromosome X, 20204456: 20204456
17 RPS6KA3 RPS6KA3, 3-BP DEL, 1428TAT deletion Pathogenic
18 RPS6KA3 RPS6KA3, DUP EXONS 17-20, NT1959 duplication Pathogenic
19 RPS6KA3 RPS6KA3, 7.2-KB DEL deletion Pathogenic
20 RPS6KA3 NM_004586.2(RPS6KA3): c.913C> T (p.Arg305Ter) single nucleotide variant Pathogenic rs869320705 GRCh37 Chromosome X, 20195135: 20195135
21 RPS6KA3 NM_004586.2(RPS6KA3): c.1539_1542delACGA (p.Glu515Profs) deletion Pathogenic rs886043293 GRCh37 Chromosome X, 20185767: 20185770

Expression for Coffin-Lowry Syndrome

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

Pathways for Coffin-Lowry Syndrome

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

(show all 45)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 CREB1 EDNRB FOS RPS6KA1 RPS6KA3
2
Show member pathways
12.63 FOS PDHA1 PHKA2 RPS6KA1 RPS6KB2
3
Show member pathways
12.6 CREB1 FOS RPS6KA1 RPS6KA3
4
Show member pathways
12.59 CREB1 FOS RPS6KA1 RPS6KA3
5
Show member pathways
12.33 RPS6KA1 RPS6KA3 RPS6KB2
6
Show member pathways
12.31 FOS RPS6KA1 RPS6KA3 RPS6KB2
7
Show member pathways
12.3 CREB1 FOS RPS6KA1
8
Show member pathways
12.27 CREB1 RPS6KA1 RPS6KA3
9
Show member pathways
12.26 CREB1 RPS6KA1 RPS6KB2
10
Show member pathways
12.21 CREB1 FOS RPS6KA1
11
Show member pathways
12.18 CREB1 FOS RPS6KA1 RPS6KA3
12
Show member pathways
12.16 CREB1 FOS RPS6KB2
13
Show member pathways
12.15 CREB1 RPS6KA1 RPS6KA3
14
Show member pathways
12.07 CREB1 RPS6KA1 RPS6KA3
15
Show member pathways
12.03 CREB1 RPS6KA1 RPS6KA3
16
Show member pathways
12 FOS RPS6KA1 RPS6KA3
17
Show member pathways
11.93 CREB1 FOS RPS6KA1 RPS6KA3
18
Show member pathways
11.89 FOS RPS6KA1 RPS6KB2
19 11.88 CREB1 FOS RPS6KA1 RPS6KA3
20
Show member pathways
11.85 CREB1 RPS6KA1 RPS6KA3
21
Show member pathways
11.85 FOS RPS6KA1 RPS6KA3
22
Show member pathways
11.78 FOS RPS6KA3
23 11.78 FOS RPS6KA1 RPS6KA3
24 11.75 CREB1 PDHA1 PHKA2
25 11.73 CREB1 FOS RPS6KA3
26 11.72 CREB1 FOS RPS6KA1 RPS6KA3
27 11.52 CREB1 FOS RPS6KA1
28
Show member pathways
11.49 CREB1 RPS6KA1 RPS6KA3 RPS6KB2
29 11.44 CREB1 FOS
30 11.42 EDNRB FOS
31
Show member pathways
11.39 CREB1 FOS
32
Show member pathways
11.36 CREB1 FOS RPS6KA1 RPS6KA3 RPS6KB2
33 11.35 FOS RPS6KA1
34 11.32 CREB1 RPS6KA1
35 11.26 CREB1 FOS
36
Show member pathways
11.25 CREB1 FOS RPS6KA1 RPS6KA3
37 11.22 CREB1 RPS6KA1 RPS6KA3
38 11.19 CREB1 RPS6KA1
39 11.17 CREB1 FOS
40 11.13 FOS RPS6KA1 RPS6KA3
41 11.07 CREB1 RPS6KB2
42 10.99 CREB1 FOS
43 10.99 CREB1 RPS6KA1
44
Show member pathways
10.99 CREB1 FOS RPS6KA1
45 10.85 CREB1 FOS

GO Terms for Coffin-Lowry Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.54 EDNRB FOS RPS6KA3
2 aging GO:0007568 9.5 CREB1 EDNRB FOS
3 positive regulation of cell differentiation GO:0045597 9.4 RPS6KA1 RPS6KA3
4 protein phosphorylation GO:0006468 9.35 CREB1 PHKA2 RPS6KA1 RPS6KA3 RPS6KB2
5 positive regulation of osteoclast differentiation GO:0045672 9.26 CREB1 FOS
6 regulation of DNA-templated transcription in response to stress GO:0043620 9.16 RPS6KA1 RPS6KA3
7 regulation of translation in response to stress GO:0043555 8.62 RPS6KA1 RPS6KA3

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

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II activating transcription factor binding GO:0001102 9.16 CREB1 FOS
2 cysteine-type endopeptidase inhibitor activity involved in apoptotic process GO:0043027 8.96 RPS6KA1 RPS6KA3
3 transcriptional activator activity, RNA polymerase II transcription factor binding GO:0001190 8.62 CREB1 FOS

Sources for Coffin-Lowry Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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