MCID: CFF002
MIFTS: 55

Coffin-Lowry Syndrome 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, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 48NINDS, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Coffin-Lowry Syndrome:

Name: Coffin-Lowry Syndrome 51 11 70 23 47 24 25 53 69 12 49 38 13 67
Cls 47 25 53 69
Mental Retardation with Osteocartilaginous Abnormalities 70 47 25
 
Coffin Lowry Syndrome 48 26
Coffin Syndrome 47

Characteristics:

Orphanet epidemiological data:

53
coffin-lowry syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal

HPO:

63
coffin-lowry syndrome:
Inheritance: x-linked dominant inheritance

Classifications:



External Ids:

OMIM51 303600
Disease Ontology11 DOID:3783
MeSH38 D038921
NCIt44 C84643
Orphanet53 ORPHA192
SNOMED-CT61 15182000
MESH via Orphanet39 D038921
UMLS via Orphanet68 C0265252
ICD10 via Orphanet30 Q87.0
MedGen36 C0265252

Summaries for Coffin-Lowry Syndrome

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NINDS:48 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,

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 thick lower lip vermilion, open mouth and everted lower lip vermilion. An important gene associated with Coffin-Lowry Syndrome is RPS6KA3 (Ribosomal Protein S6 Kinase A3), and among its related pathways are VEGFR3 signaling in lymphatic endothelium and Interleukin-11 Signaling Pathway. Affiliated tissues include bone, kidney and eye, and related mouse phenotype muscle.

UniProtKB/Swiss-Prot:69 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:51 Coffin-Lowry syndrome is a rare form of X-linked mental retardation characterized by skeletal malformations, growth... (303600) more...

NIH Rare Diseases:47 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:70 Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental... 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 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:

 63 53 (show all 106)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thick lower lip vermilion63 53 hallmark (90%) Very frequent (99-80%) HP:0000179
2 open mouth63 53 hallmark (90%) Very frequent (99-80%) HP:0000194
3 everted lower lip vermilion63 53 hallmark (90%) Very frequent (99-80%) HP:0000232
4 coarse facial features63 53 hallmark (90%) Very frequent (99-80%) HP:0000280
5 epicanthus63 53 hallmark (90%) Very frequent (99-80%) HP:0000286
6 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
7 anteverted nares63 53 hallmark (90%) Very frequent (99-80%) HP:0000463
8 downslanted palpebral fissures63 53 hallmark (90%) Very frequent (99-80%) HP:0000494
9 pectus excavatum63 53 hallmark (90%) Very frequent (99-80%) HP:0000767
10 pectus carinatum63 53 hallmark (90%) Very frequent (99-80%) HP:0000768
11 abnormal diaphysis morphology63 53 hallmark (90%) Very frequent (99-80%) HP:0000940
12 brachydactyly syndrome63 53 hallmark (90%) Very frequent (99-80%) HP:0001156
13 large hands63 53 hallmark (90%) Very frequent (99-80%) HP:0001176
14 tapered finger63 53 hallmark (90%) Very frequent (99-80%) HP:0001182
15 muscular hypotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001252
16 joint hypermobility63 hallmark (90%) HP:0001382
17 frontal bossing63 53 hallmark (90%) Very frequent (99-80%) HP:0002007
18 neurological speech impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0002167
19 scoliosis63 53 hallmark (90%) Very frequent (99-80%) HP:0002650
20 delayed skeletal maturation63 53 hallmark (90%) Very frequent (99-80%) HP:0002750
21 kyphosis63 53 hallmark (90%) Very frequent (99-80%) HP:0002808
22 abnormal form of the vertebral bodies63 53 hallmark (90%) Very frequent (99-80%) HP:0003312
23 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
24 craniofacial hyperostosis63 53 hallmark (90%) Very frequent (99-80%) HP:0004493
25 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
26 abnormality of dental morphology63 53 hallmark (90%) Very frequent (99-80%) HP:0006482
27 reduced number of teeth63 hallmark (90%) HP:0009804
28 cognitive impairment63 hallmark (90%) HP:0100543
29 wide mouth63 53 typical (50%) Frequent (79-30%) HP:0000154
30 abnormality of the palate63 typical (50%) HP:0000174
31 microcephaly63 53 typical (50%) Frequent (79-30%) HP:0000252
32 abnormality of the pinna63 typical (50%) HP:0000377
33 cutis laxa63 typical (50%) HP:0000973
34 abnormality of the metacarpal bones63 typical (50%) HP:0001163
35 hypertonia63 53 typical (50%) Frequent (79-30%) HP:0001276
36 gait disturbance63 53 typical (50%) Frequent (79-30%) HP:0001288
37 pes planus63 53 typical (50%) Frequent (79-30%) HP:0001763
38 anonychia63 typical (50%) HP:0001798
39 ventriculomegaly63 53 typical (50%) Frequent (79-30%) HP:0002119
40 abnormality of pelvic girdle bone morphology63 typical (50%) HP:0002644
41 feeding difficulties in infancy63 53 typical (50%) Frequent (79-30%) HP:0008872
42 short distal phalanx of finger63 53 typical (50%) Frequent (79-30%) HP:0009882
43 sensorineural hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000407
44 blepharitis63 occasional (7.5%) HP:0000498
45 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
46 optic atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0000648
47 delayed eruption of teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0000684
48 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
49 muscle weakness63 53 occasional (7.5%) Occasional (29-5%) HP:0001324
50 abnormality of the mitral valve63 53 occasional (7.5%) Occasional (29-5%) HP:0001633
51 abnormality of the aortic valve63 53 occasional (7.5%) Occasional (29-5%) HP:0001646
52 abnormality of the tricuspid valve63 53 occasional (7.5%) Occasional (29-5%) HP:0001702
53 apnea63 occasional (7.5%) HP:0002104
54 cerebral cortical atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0002120
55 abnormality of neuronal migration63 53 occasional (7.5%) Occasional (29-5%) HP:0002269
56 skeletal muscle atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0003202
57 advanced eruption of teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0006288
58 aplasia/hypoplasia of the cerebellum63 53 occasional (7.5%) Occasional (29-5%) HP:0007360
59 aplasia/hypoplasia of the corpus callosum63 53 occasional (7.5%) Occasional (29-5%) HP:0007370
60 abnormality of retinal pigmentation63 53 occasional (7.5%) Occasional (29-5%) HP:0007703
61 self-injurious behavior63 53 occasional (7.5%) Occasional (29-5%) HP:0100716
62 inguinal hernia63 HP:0000023
63 uterine prolapse63 HP:0000139
64 narrow palate63 53 Frequent (79-30%) HP:0000189
65 high palate63 53 Frequent (79-30%) HP:0000218
66 mandibular prognathia63 HP:0000303
67 prominent supraorbital ridges63 HP:0000336
68 protruding ear63 53 Frequent (79-30%) HP:0000411
69 wide nose63 53 Frequent (79-30%) HP:0000445
70 telecanthus63 HP:0000506
71 thick eyebrow63 HP:0000574
72 hypodontia63 53 Very frequent (99-80%) HP:0000668
73 widely spaced teeth63 53 Very frequent (99-80%) HP:0000687
74 dental malocclusion63 HP:0000689
75 single transverse palmar crease63 HP:0000954
76 cutis marmorata63 HP:0000965
77 broad palm63 HP:0001169
78 hyperextensibility of the finger joints63 HP:0001187
79 intellectual disability63 53 Very frequent (99-80%) HP:0001249
80 delayed closure of the anterior fontanelle63 HP:0001476
81 mitral regurgitation63 HP:0001653
82 hyperconvex fingernails63 53 Frequent (79-30%) HP:0001812
83 rectal prolapse63 HP:0002035
84 coarse hair63 HP:0002208
85 highly arched eyebrow63 HP:0002553
86 coxa valga63 HP:0002673
87 thickened calvaria63 HP:0002684
88 narrow iliac wings63 53 Frequent (79-30%) HP:0002868
89 decreased body weight63 HP:0004325
90 drumstick terminal phalanges63 HP:0006129
91 lumbar kyphosis63 HP:0008454
92 thick nasal septum63 HP:0009746
93 short metacarpal63 53 Frequent (79-30%) HP:0010049
94 bifid sternum63 HP:0010309
95 hypoplasia of the maxilla53 Frequent (79-30%)
96 strabismus53 Occasional (29-5%)
97 broad finger53 Very frequent (99-80%)
98 redundant skin53 Frequent (79-30%)
99 hypoplastic fingernail53 Frequent (79-30%)
100 progressive spasticity53 Frequent (79-30%)
101 joint hyperflexibility53 Very frequent (99-80%)
102 pseudoepiphyses of the metacarpals53 Frequent (79-30%)
103 thick nasal alae53 Very frequent (99-80%)
104 sleep apnea53 Occasional (29-5%)
105 severe global developmental delay53 Very frequent (99-80%)
106 death in early adulthood53 Occasional (29-5%)

UMLS symptoms related to Coffin-Lowry Syndrome:


seizures

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 Syndrome26 24 RPS6KA3

Anatomical Context for Coffin-Lowry Syndrome

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MalaCards organs/tissues related to Coffin-Lowry Syndrome:

35
Bone, Kidney, Eye, Heart, Skin, Cerebellum, Skeletal muscle

Animal Models for Coffin-Lowry Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Coffin-Lowry Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.0CREB1, EDNRB, PDHA1, RPS6KA3, RPS6KB2

Publications for Coffin-Lowry Syndrome

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Articles related to Coffin-Lowry Syndrome:

(show top 50)    (show all 120)
idTitleAuthorsYear
1
Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation. (26927527)
2016
2
Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome. (26914125)
2016
3
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. (25044551)
2014
4
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
5
The Coffin-Lowry Syndrome-Associated Protein RSK2 Regulates Neurite Outgrowth through Phosphorylation of Phospholipase D1 (PLD1) and Synthesis of Phosphatidic Acid. (24336713)
2013
6
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
7
Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome. (23261961)
2013
8
Hypoplastic root cementum and premature loss of primary teeth in Coffin-Lowry syndrome: a case report. (21781198)
2012
9
A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome. (21614984)
2011
10
Altered ERK/MAPK signaling in the hippocampus of the mrsk2_KO mouse model of Coffin-Lowry syndrome. (21838783)
2011
11
The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion. (21061166)
2010
12
The Coffin-Lowry syndrome: a case report and review of the literature. (20707959)
2010
13
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
14
The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1. (18550821)
2008
15
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. (17100996)
2006
16
Treatment of drop episodes in Coffin-Lowry syndrome. (16021355)
2006
17
A case of Coffin-Lowry syndrome with premature exfoliation of primary teeth. (16643544)
2006
18
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay. (16306095)
2005
19
ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome. (15109498)
2004
20
MRI and MRS of Coffin-Lowry syndrome: a case report. (12739239)
2003
21
Coffin-Lowry syndrome: clinical and molecular features. (12362025)
2002
22
Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes. (12210291)
2002
23
Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome. (11992250)
2002
24
A female with Coffin-Lowry syndrome and "cataplexy". (12558110)
2002
25
A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome. (12014383)
2002
26
Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response. (11022143)
2000
27
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. (10528858)
1999
28
Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS). (10094187)
1999
29
Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome. (9832033)
1998
30
New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome. (9610000)
1998
31
Germline mosaicism in Coffin-Lowry syndrome. (9887375)
1998
32
Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome. (9507386)
1998
33
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. (8955270)
1996
34
Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers. (8588856)
1995
35
Callosal dysgenesis in a patient with Coffin-Lowry syndrome. (7927588)
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
The radiology of Coffin-Lowry syndrome. (2306591)
1990
40
A case suggesting Coffin-Lowry syndrome. (2133800)
1990
41
A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter. (3177468)
1988
42
Cardiac involvement in Coffin-Lowry syndrome. (3396606)
1988
43
Coffin-Lowry syndrome: a multicenter study. (3069251)
1988
44
The Coffin-Lowry syndrome. (3290491)
1988
45
The Coffin-Lowry syndrome. A study of two new index patients and their families. (6519116)
1984
46
Forearm fullness in Coffin-Lowry syndrome: a misleading yet possible early diagnostic clue. (6465196)
1984
47
Coffin-Lowry syndrome in an Afro-American family. (7081302)
1982
48
The Coffin-Lowry syndrome. Experience from four centres. (7116677)
1982
49
Coffin-Lowry syndrome in sibs. (7234901)
1981
50
The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome. (1133653)
1975

Variations for Coffin-Lowry Syndrome

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

69 (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, NT406deletionPathogenicChr na, -1: -1
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, 451AGdeletionPathogenicChr na, -1: -1
8RPS6KA3NM_004586.2(RPS6KA3): c.2065C> T (p.Gln689Ter)SNVPathogenicrs122454128GRCh37Chr X, 20174262: 20174262
9RPS6KA3NM_004586.2(RPS6KA3): c.2186G> A (p.Arg729Gln)SNVPathogenicrs28935171GRCh37Chr X, 20173553: 20173553
10RPS6KA3NM_004586.2(RPS6KA3): c.566T> A (p.Ile189Lys)SNVPathogenicrs122454130GRCh37Chr X, 20211632: 20211632
11RPS6KA3RPS6KA3, IVS6, A-G, +3SNVPathogenicChr na, -1: -1
12RPS6KA3RPS6KA3, IVS5, A-G, -11SNVPathogenicChr na, -1: -1
13RPS6KA3RPS6KA3, 1-BP DEL, 2144CdeletionPathogenicChr na, -1: -1
14RPS6KA3RPS6KA3, IVS12, A-G, -2SNVPathogenicChr na, -1: -1
15RPS6KA3RPS6KA3, IVS3, L1 INS, -8insertionPathogenicChr na, -1: -1
16RPS6KA3NM_004586.2(RPS6KA3): c.803T> C (p.Phe268Ser)SNVPathogenicrs122454131GRCh37Chr X, 20204456: 20204456
17RPS6KA3RPS6KA3, 3-BP DEL, 1428TATdeletionPathogenicChr na, -1: -1
18RPS6KA3RPS6KA3, DUP EXONS 17-20, NT1959duplicationPathogenicChr na, -1: -1
19RPS6KA3RPS6KA3, 7.2-KB DELdeletionPathogenicChr na, -1: -1
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 32)
idSuper pathwaysScoreTop Affiliating Genes
19.7CREB1, RPS6KA1
29.7CREB1, RPS6KA1
3
Show member pathways
9.6FOS, RPS6KA3
49.6CREB1, FOS
59.6CREB1, FOS
69.6CREB1, FOS
79.6CREB1, FOS
8
Show member pathways
9.6CREB1, FOS
99.6CREB1, FOS
109.5FOS, RPS6KA1
119.5CREB1, RPS6KB2
12
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
13
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
149.4CREB1, RPS6KA1, RPS6KA3
15
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
16
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
179.3CREB1, PDHA1, PHKA2
189.3CREB1, FOS, RPS6KA3
19
Show member pathways
9.2FOS, RPS6KA1, RPS6KA3
209.2FOS, RPS6KA1, RPS6KA3
219.2FOS, RPS6KA1, RPS6KA3
22
Show member pathways
9.2CREB1, FOS, RPS6KA1
239.2CREB1, FOS, RPS6KA1
249.1EDNRB, FOS
258.9CREB1, FOS, RPS6KA1, RPS6KA3
26
Show member pathways
8.9CREB1, FOS, RPS6KA1, RPS6KA3
27
Show member pathways
8.9CREB1, FOS, RPS6KA1, RPS6KA3
288.9CREB1, FOS, RPS6KA1, RPS6KA3
298.6FOS, RPS6KA1, RPS6KA3, RPS6KB2
30
Show member pathways
8.2CREB1, FOS, RPS6KA1, RPS6KA3, RPS6KB2
31
Show member pathways
8.0CREB1, EDNRB, FOS, RPS6KA1, RPS6KA3
32
Show member pathways
7.4CREB1, FOS, PDHA1, PHKA2, RPS6KA1, RPS6KA3

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
1regulation of translation in response to stressGO:004355510.4RPS6KA1, RPS6KA3
2positive regulation of cell differentiationGO:004559710.1RPS6KA1, RPS6KA3
3positive regulation of osteoclast differentiationGO:004567210.0CREB1, FOS
4regulation of DNA-templated transcription in response to stressGO:00436209.8RPS6KA1, RPS6KA3
5response to lipopolysaccharideGO:00324968.9EDNRB, FOS, RPS6KA3
6agingGO:00075688.8CREB1, EDNRB, FOS
7protein phosphorylationGO:00064688.3CREB1, 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:00430279.7RPS6KA1, RPS6KA3

Sources for Coffin-Lowry Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet