CLS
MCID: CFF002
MIFTS: 72

Coffin-Lowry Syndrome (CLS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Bone diseases, Mental diseases categories
Download this MalaCard

Summaries for Coffin-Lowry Syndrome

About this section


Fully expand this MalaCard
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 based summary: Coffin-Lowry Syndrome, also known as mental retardation with osteocartilaginous abnormalities, is related to mental retardation and cystic fibrosis, and has symptoms including dense/thickened skull/calvarium/cranial/facial hyperostosis, frontal bossing/prominent forehead and coarse face. An important gene associated with Coffin-Lowry Syndrome is RPS6KA3 (ribosomal protein S6 kinase, 90kDa, polypeptide 3), and among its related pathways are Cellular Transformation by HTLV1 and IL-9 Signaling Pathways. The compounds kn62 and kn 93 have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart, and related mouse phenotypes are reproductive system and muscle.

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:65 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

About this section
Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Coffin-Lowry Syndrome, Aliases & Descriptions:

Name: Coffin-Lowry Syndrome 8 9 65 19 42 20 22 21 46 10 44 48 62
Mental Retardation with Osteocartilaginous Abnormalities 65 42 21 62
Cls 65 42 21 48
 
Coffin Lowry Syndrome 43
Coffin Syndrome 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:3783
MeSH34 D038921
OMIM46 303600
NCIt39 C84643
SNOMED-CT57 15182000
UMLS via Orphanet63 C0265252
MESH via Orphanet35 D038921
ICD10 via Orphanet26 Q87.0

Related Diseases for Coffin-Lowry Syndrome

About this section

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



Diseases related to coffin-lowry syndrome

Symptoms for Coffin-Lowry Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

303600

Clinical features from OMIM:

303600

Symptoms:

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

HPO human phenotypes related to Coffin-Lowry Syndrome:

(show all 114)
id Description Frequency HPO Source Accession
1 thick lower lip vermilion hallmark (90%) HP:0000179
2 open mouth hallmark (90%) HP:0000194
3 everted lower lip vermilion hallmark (90%) HP:0000232
4 coarse facial features hallmark (90%) HP:0000280
5 epicanthus hallmark (90%) HP:0000286
6 hypertelorism hallmark (90%) HP:0000316
7 anteverted nares hallmark (90%) HP:0000463
8 downslanted palpebral fissures hallmark (90%) HP:0000494
9 pectus excavatum hallmark (90%) HP:0000767
10 pectus carinatum hallmark (90%) HP:0000768
11 abnormal diaphysis morphology hallmark (90%) HP:0000940
12 brachydactyly syndrome hallmark (90%) HP:0001156
13 large hands hallmark (90%) HP:0001176
14 tapered finger hallmark (90%) HP:0001182
15 muscular hypotonia hallmark (90%) HP:0001252
16 joint hypermobility hallmark (90%) HP:0001382
17 frontal bossing hallmark (90%) HP:0002007
18 neurological speech impairment hallmark (90%) HP:0002167
19 scoliosis hallmark (90%) HP:0002650
20 delayed skeletal maturation hallmark (90%) HP:0002750
21 kyphosis hallmark (90%) HP:0002808
22 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
23 short stature hallmark (90%) HP:0004322
24 craniofacial hyperostosis hallmark (90%) HP:0004493
25 depressed nasal bridge hallmark (90%) HP:0005280
26 abnormality of dental morphology hallmark (90%) HP:0006482
27 reduced number of teeth hallmark (90%) HP:0009804
28 cognitive impairment hallmark (90%) HP:0100543
29 wide mouth typical (50%) HP:0000154
30 abnormality of the palate typical (50%) HP:0000174
31 microcephaly typical (50%) HP:0000252
32 abnormality of the pinna typical (50%) HP:0000377
33 cutis laxa typical (50%) HP:0000973
34 abnormality of the metacarpal bones typical (50%) HP:0001163
35 hypertonia typical (50%) HP:0001276
36 gait disturbance typical (50%) HP:0001288
37 pes planus typical (50%) HP:0001763
38 anonychia typical (50%) HP:0001798
39 ventriculomegaly typical (50%) HP:0002119
40 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
41 feeding difficulties in infancy typical (50%) HP:0008872
42 short distal phalanx of finger typical (50%) HP:0009882
43 sensorineural hearing impairment occasional (7.5%) HP:0000407
44 blepharitis occasional (7.5%) HP:0000498
45 cataract occasional (7.5%) HP:0000518
46 optic atrophy occasional (7.5%) HP:0000648
47 delayed eruption of teeth occasional (7.5%) HP:0000684
48 seizures occasional (7.5%) HP:0001250
49 muscle weakness occasional (7.5%) HP:0001324
50 abnormality of the mitral valve occasional (7.5%) HP:0001633
51 abnormality of the aortic valve occasional (7.5%) HP:0001646
52 abnormality of the tricuspid valve occasional (7.5%) HP:0001702
53 apnea occasional (7.5%) HP:0002104
54 cerebral cortical atrophy occasional (7.5%) HP:0002120
55 abnormality of neuronal migration occasional (7.5%) HP:0002269
56 amyotrophy occasional (7.5%) HP:0003202
57 advanced eruption of teeth occasional (7.5%) HP:0006288
58 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
59 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
60 abnormal retinal pigmentation occasional (7.5%) HP:0007703
61 self-injurious behavior occasional (7.5%) HP:0100716
62 inguinal hernia HP:0000023
63 uterine prolapse HP:0000139
64 narrow palate HP:0000189
65 open mouth HP:0000194
66 high palate HP:0000218
67 everted lower lip vermilion HP:0000232
68 microcephaly HP:0000252
69 coarse facial features HP:0000280
70 mandibular prognathia HP:0000303
71 hypertelorism HP:0000316
72 sensorineural hearing impairment HP:0000407
73 protruding ear HP:0000411
74 wide nose HP:0000445
75 anteverted nares HP:0000463
76 downslanted palpebral fissures HP:0000494
77 telecanthus HP:0000506
78 thick eyebrow HP:0000574
79 hypodontia HP:0000668
80 widely spaced teeth HP:0000687
81 dental malocclusion HP:0000689
82 pectus excavatum HP:0000767
83 pectus carinatum HP:0000768
84 single transverse palmar crease HP:0000954
85 cutis marmorata HP:0000965
86 cutis laxa HP:0000973
87 broad palm HP:0001169
88 tapered finger HP:0001182
89 hyperextensibility of the finger joints HP:0001187
90 intellectual disability HP:0001249
91 seizures HP:0001250
92 muscular hypotonia HP:0001252
93 x-linked dominant inheritance HP:0001423
94 delayed closure of the anterior fontanelle HP:0001476
95 mitral regurgitation HP:0001653
96 pes planus HP:0001763
97 hyperconvex fingernails HP:0001812
98 rectal prolapse HP:0002035
99 ventriculomegaly HP:0002119
100 coarse hair HP:0002208
101 highly arched eyebrow HP:0002553
102 scoliosis HP:0002650
103 coxa valga HP:0002673
104 thickened calvaria HP:0002684
105 delayed skeletal maturation HP:0002750
106 kyphosis HP:0002808
107 narrow iliac wings HP:0002868
108 short stature HP:0004322
109 decreased body weight HP:0004325
110 drumstick terminal phalanges HP:0006129
111 lumbar kyphosis HP:0008454
112 thick nasal septum HP:0009746
113 short metacarpal HP:0010049
114 bifid sternum HP:0010309

Drugs & Therapeutics for Coffin-Lowry Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Coffin-Lowry Syndrome

Search NIH Clinical Center for Coffin-Lowry Syndrome

Genetic Tests for Coffin-Lowry Syndrome

About this section

Genetic tests related to Coffin-Lowry Syndrome:

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

Anatomical Context for Coffin-Lowry Syndrome

About this section

MalaCards organs/tissues related to Coffin-Lowry Syndrome:

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

Animal Models for Coffin-Lowry Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Coffin-Lowry Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.9CREB1, PDHA1, RPS6KB2, RPS6KA3, FOS, ATF4
2MP:00053698.0ATF4, RPS6KA2, RPS6KA3, RPS6KB2, PDHA1, CREB1
3MP:00053847.5ATF4, FOS, PLD1, RPS6KA5, RPS6KB2, MAPK10
4MP:00053857.4PLD1, RPS6KA2, RPS6KA3, RPS6KB2, RPS6KA6, MAPK10
5MP:00053766.7CREB1, ATF4, FOS, PLD1, RPS6KA5, RPS6KA2

Publications for Coffin-Lowry Syndrome

About this section

Articles related to Coffin-Lowry Syndrome:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. (25044551)
2014
2
The Coffin-Lowry Syndrome-Associated Protein RSK2 Regulates Neurite Outgrowth through Phosphorylation of Phospholipase D1 (PLD1) and Synthesis of Phosphatidic Acid. (24336713)
2013
3
Mitral and tricuspid valve surgery for Coffin-Lowry syndrome. (23873216)
2013
4
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
5
Stimulus-induced drop episodes in Coffin-Lowry syndrome. (22490425)
2012
6
Four novel RSK2 mutations in females with Coffin-Lowry syndrome. (20637903)
2010
7
The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion. (21061166)
2010
8
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
9
The Coffin-Lowry syndrome-associated protein RSK2 controls neuroendocrine secretion through the regulation of phospholipase D1 at the exocytotic sites. (19161391)
2009
10
Dopaminergic system dysregulation in the mrsk2_KO mouse, an animal model of the Coffin-Lowry syndrome. (18823370)
2008
11
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. (17586481)
2007
12
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. (17100996)
2006
13
Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. (16879200)
2006
14
Treatment of drop episodes in Coffin-Lowry syndrome. (16021355)
2006
15
A case of Coffin-Lowry syndrome with premature exfoliation of primary teeth. (16643544)
2006
16
RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes. (15668050)
2005
17
The movement disorders of Coffin-Lowry syndrome. (15668049)
2005
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
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. (14986828)
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
Cognitive function in Coffin-Lowry syndrome. (12030896)
2002
25
A female with Coffin-Lowry syndrome and "cataplexy". (12558110)
2002
26
Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response. (11022143)
2000
27
Coffin-Lowry syndrome: current status. (10398230)
1999
28
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. (10528858)
1999
29
Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome. (9832033)
1998
30
Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis. (9467016)
1998
31
New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome. (9610000)
1998
32
"Cataplexy" in Coffin-Lowry syndrome. (9719387)
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
Corpus callosum agenesis in Coffin-Lowry syndrome. (8031540)
1994
36
Callosal dysgenesis in a patient with Coffin-Lowry syndrome. (7927588)
1994
37
Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations. (7681250)
1993
38
Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2. (1349200)
1992
39
Calcified ligamenta flava in a patient with Coffin-Lowry syndrome: biochemical analysis of glycosaminoglycans. (2398636)
1990
40
The radiology of Coffin-Lowry syndrome. (2306591)
1990
41
Enhanced accumulation of hyaluronate in the culture of skin fibroblasts from two patients with Coffin-Lowry syndrome. (2588262)
1989
42
A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter. (3177468)
1988
43
Cardiac involvement in Coffin-Lowry syndrome. (3396606)
1988
44
Brief clinico-genetic report: the Coffin-Lowry syndrome. (3659816)
1987
45
Coffin-Lowry syndrome and schizophrenia: a family report. (3625766)
1987
46
The Coffin-Lowry syndrome. A study of two new index patients and their families. (6519116)
1984
47
Coffin-Lowry syndrome in an Afro-American family. (7081302)
1982
48
Lapsus--caveat emptor: Coffin-Lowry syndrome vs Coffin-Siris syndrome--an example of confusion compounded. (7294058)
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

Variations for Coffin-Lowry Syndrome

About this section

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

64 (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

Clinvar genetic disease variations for Coffin-Lowry Syndrome:

6 (show all 18)
id Gene Name Type Significance SNP ID Assembly Location
1RPS6KA3RPS6KA3, 187-BP DEL, NT406deletionPathogenic
2RPS6KA3NM_004586.2(RPS6KA3): c.224G> T (p.Gly75Val)single nucleotide variantPathogenicrs122454124GRCh37Chr X, 20227425: 20227425
3RPS6KA3NM_004586.2(RPS6KA3): c.679T> G (p.Ser227Ala)single nucleotide variantPathogenicrs122454125GRCh37Chr X, 20206041: 20206041
4RPS6KA3NM_004586.2(RPS6KA3): c.244G> T (p.Val82Phe)single nucleotide variantPathogenicrs122454126GRCh37Chr X, 20222221: 20222221
5RPS6KA3NM_004586.2(RPS6KA3): c.326-1G> Csingle nucleotide variantPathogenicGRCh37Chr X, 20213264: 20213264
6RPS6KA3NM_004586.2(RPS6KA3): c.340C> T (p.Arg114Trp)single nucleotide variantPathogenicrs122454127GRCh37Chr X, 20213249: 20213249
7RPS6KA3RPS6KA3, 2-BP DEL, 451AGdeletionPathogenic
8RPS6KA3NM_004586.2(RPS6KA3): c.2065C> T (p.Gln689Ter)single nucleotide variantPathogenicrs122454128GRCh37Chr X, 20174262: 20174262
9RPS6KA3NM_004586.2(RPS6KA3): c.2186G> A (p.Arg729Gln)single nucleotide variantPathogenicrs28935171GRCh37Chr X, 20173553: 20173553
10RPS6KA3NM_004586.2(RPS6KA3): c.566T> A (p.Ile189Lys)single nucleotide variantPathogenicrs122454130GRCh37Chr X, 20211632: 20211632
11RPS6KA3RPS6KA3, IVS6, A-G, +3single nucleotide variantPathogenic
12RPS6KA3RPS6KA3, IVS5, A-G, -11single nucleotide variantPathogenic
13RPS6KA3RPS6KA3, 1-BP DEL, 2144CdeletionPathogenic
14RPS6KA3RPS6KA3, IVS12, A-G, -2single nucleotide variantPathogenic
15RPS6KA3RPS6KA3, IVS3, L1 INS, -8insertionPathogenic
16RPS6KA3NM_004586.2(RPS6KA3): c.803T> C (p.Phe268Ser)single nucleotide variantPathogenicrs122454131GRCh37Chr X, 20204456: 20204456
17RPS6KA3RPS6KA3, 3-BP DEL, 1428TATdeletionPathogenic
18RPS6KA3RPS6KA3, DUP EXONS 17-20, NT1959duplicationPathogenic

Expression for genes affiliated with Coffin-Lowry Syndrome

About this section
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

About this section

Pathways related to Coffin-Lowry Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 98)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7FOS, MAPK10, CREB1
2
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
9.4CREB1, RPS6KA3, RPS6KA1, FOS
3
Show member pathways
9.3MAPK10, CREB1, ATF4, FOS
49.3MAPK10, ATF4, FOS, CREB1
5
Show member pathways
9.3FOS, MAPK10, CREB1, ATF4
6
Show member pathways
9.2CREB1, MAPK10, RPS6KA1, ATF4
7
Show member pathways
9.1FOS, CREB1, RPS6KA1, RPS6KA5
89.0FOS, PLD1, CREB1, RPS6KA1
9
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
8.9CREB1, RPS6KA2, MAPK10, FOS
10
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
8.8RPS6KA2, RPS6KA3, RPS6KA1, CREB1
118.8CREB1, FOS, RPS6KA5, MAPK10, ATF4
128.6CREB1, RPS6KA1, FOS, RPS6KA3, RPS6KA5, MAPK10
13
Show member pathways
8.6SKP1, MAPK10, MAPKAP1, CREB1, RPS6KB2, FOS
14
Show member pathways
Development A2B receptor action via G protein alpha s60
8.6RPS6KA1, RPS6KA2, RPS6KA3, CREB1, MAPK10
15
Show member pathways
Development Flt3 signaling60
8.6RPS6KA2, CREB1, MAPK10, RPS6KA1, RPS6KA3
16
Show member pathways
8.6RPS6KA2, RPS6KA3, MAPK10, FOS, RPS6KA1
17
Show member pathways
8.4RPS6KA2, RPS6KA3, RPS6KA1, RPS6KA6, CREB1
18
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
8.4RPS6KB2, FOS, ATF4, CREB1, PLD1, MAPK10
19
Show member pathways
8.4MAPK10, RPS6KA1, RPS6KA6, RPS6KA3, RPS6KA2
20
Show member pathways
8.4RPS6KA6, RPS6KA2, RPS6KA1, RPS6KA3, MAPK10
21
Show member pathways
Cytoplasmic Ribosomal Proteins37
8.4RPS6KB2, RPS6KA1, RPS6KA6, RPS6KA2, RPS6KA3
22
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.3MAPK10, RPS6KA2, RPS6KA3, RPS6KA1, CREB1, FOS
23
Show member pathways
Development Ligand independent activation of ESR1 and ESR260
8.3RPS6KA1, RPS6KA2, CREB1, RPS6KA5, RPS6KA3
248.3RPS6KA3, PLD1, RPS6KA5, FOS, CREB1, MAPKAP1
25
Show member pathways
8.2RPS6KA5, MAPK10, ATF4, FOS, PLD1, CREB1
26
Show member pathways
8.2RPS6KA6, RPS6KA2, RPS6KA3, RPS6KA1, MAPK10, FOS
27
Show member pathways
8.2RPS6KA3, RPS6KA1, RPS6KA5, RPS6KA2, RPS6KA6
28
Show member pathways
8.1RPS6KA6, RPS6KA3, RPS6KA1, ATF4, RPS6KA2, CREB1
29
Show member pathways
7.9RPS6KA6, RPS6KA5, CREB1, RPS6KA2, RPS6KA3, RPS6KA1
30
Show member pathways
7.9RPS6KA2, RPS6KA3, RPS6KA1, RPS6KA6, MAPK10, SKP1
31
Show member pathways
Apoptosis and survival BAD phosphorylation60
Development Alpha 2 adrenergic receptor activation of ERK60
Chemotaxis CXCR4 signaling pathway60
7.9RPS6KA6, RPS6KB2, RPS6KA1, RPS6KA5, RPS6KA2, RPS6KA3
32
Show member pathways
7.8RPS6KA2, RPS6KA1, CREB1, MAPK10, FOS, RPS6KA3
33
Show member pathways
7.8RPS6KA5, RPS6KA3, CREB1, MAPK10, RPS6KA1, RPS6KA2
34
Show member pathways
7.7CREB1, MAPKAP1, RPS6KB2, RPS6KA1, RPS6KA3, RPS6KA2
35
Show member pathways
7.6RPS6KA2, RPS6KA3, RPS6KA1, RPS6KA6, RPS6KA5, FOS
36
Show member pathways
Development ERBB family signaling60
Development GDNF family signaling60
7.5FOS, RPS6KA6, ATF4, RPS6KA2, RPS6KA3, RPS6KA1
37
Show member pathways
7.5RPS6KA2, RPS6KA1, RPS6KA6, MAPK10, RPS6KA3, PLD1
387.4CREB1, RPS6KA1, RPS6KA3, RPS6KA2, RPS6KA5, PLD1
39
Show member pathways
7.4RPS6KA3, ATF4, RPS6KA5, FOS, RPS6KA2, RPS6KA1
407.4RPS6KA1, RPS6KA5, FOS, RPS6KA2, RPS6KA3, RPS6KA6
41
Show member pathways
7.4RPS6KA1, MAPK10, RPS6KA6, RPS6KB2, RPS6KA3, RPS6KA2
427.3RPS6KA6, MAPK10, CREB1, ATF4, RPS6KA5, RPS6KA2
43
Show member pathways
MAPK signaling pathway37
7.3MAPK10, ATF4, FOS, RPS6KA5, RPS6KA2, RPS6KA3
44
Show member pathways
7.2RPS6KA2, CREB1, RPS6KA5, SKP1, MAPKAP1, RPS6KB2
45
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
7.0ATF4, FOS, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1
46
Show member pathways
7.0RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, RPS6KB2, RPS6KA6
47
Show member pathways
6.9ATF4, FOS, PLD1, RPS6KA2, MAPK10, RPS6KA3
48
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
6.8RPS6KB2, RPS6KA1, RPS6KA3, RPS6KA2, RPS6KA5, RPS6KA6
49
Show member pathways
6.4RPS6KA3, RPS6KA1, FOS, RPS6KA5, RPS6KA2, ATF4
50
Show member pathways
6.4CREB1, RPS6KA6, RPS6KA3, RPS6KA1, RPS6KA2, RPS6KA5

Compounds for genes affiliated with Coffin-Lowry Syndrome

About this section

Compounds related to Coffin-Lowry Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1kn6244 2811.3CREB1, FOS
2kn 934410.3FOS, MAPK10
3methyl 2,5-dihydroxycinnamate4410.3FOS, MAPK10
41-(5-isoquinolinylsulfonyl)-2-methylpiperazine4410.2MAPK10, FOS
5quinpirole44 2811.2CREB1, FOS
6cl 1004410.2FOS, MAPK10
7chelerythrine4410.1CREB1, MAPK10, FOS
8bisindolylmaleimide4410.1CREB1, MAPK10, FOS
915-deoxy-delta-12,14-prostaglandin j24410.1CREB1, MAPK10, FOS
10ag 14784410.1CREB1, MAPK10, FOS
11morphine44 50 28 1113.0CREB1, MAPK10, FOS
12carbachol44 28 1112.0CREB1, MAPK10, FOS
13kt 572044 61 2812.0CREB1, MAPK10
14herbimycin a44 6111.0CREB1, MAPK10, FOS
15nmda44 2810.8FOS, RPS6KA3, MAPK10, CREB1
16curcumin449.8FOS, MAPK10, CREB1, PHKA2
17arsenite44 2410.8MAPK10, FOS, ATF4
18chloramphenicol44 2 50 1112.8CREB1, PDHA1, FOS
19n acetylcysteine449.7CREB1, MAPK10, FOS, ATF4
20thapsigargin44 6110.7CREB1, MAPK10, ATF4
21ly294002449.7FOS, RPS6KA1, MAPK10, CREB1
22k252a449.7CREB1, MAPK10
23wortmannin449.6FOS, RPS6KA3, RPS6KB2, MAPK10, CREB1
24okadaic acid44 6110.6FOS, MAPK10, CREB1
25egcg449.6FOS, PLD1, MAPK10
26anisomycin44 1110.6FOS, RPS6KA5, MAPK10, CREB1
27sb 20358044 6110.6FOS, RPS6KA5, MAPK10, CREB1
28gf 109203x44 6110.5CREB1, MAPK10, PLD1, FOS
29glycogen44 2410.5RPS6KA1, MAPK10, PDHA1, CREB1, PHKA2
3012-o-tetradecanoylphorbol 13-acetate449.5FOS, PLD1, MAPK10, CREB1
31ceramide449.4PLD1, MAPK10, CREB1
32cycloheximide449.2FOS, PLD1, MAPK10, CREB1
33rapamycin449.2ATF4, RPS6KA3, RPS6KA1, RPS6KB2, MAPK10, CREB1
34pf 4708671619.1RPS6KA2, RPS6KA3, RPS6KA1, RPS6KA6
35brd 7389619.1RPS6KA6, RPS6KA1, RPS6KA3, RPS6KA2
36sl 0101-1619.1RPS6KA6, RPS6KA1, RPS6KA3, RPS6KA2
37pd 98,059449.1FOS, RPS6KA5, RPS6KA3, RPS6KA1, MAPK10, CREB1
38retinoic acid44 2410.0FOS, PLD1, RPS6KA1, MAPK10, CREB1
39atp44 2810.0RPS6KA3, RPS6KA1, PDHA1, CREB1, SKP1, PHKA2
40h2o2448.9FOS, PLD1, RPS6KA5, MAPK10, CREB1
41cyclic amp44 249.9ATF4, FOS, RPS6KA5, RPS6KA1, MAPK10, CREB1
42phosphoinositide448.7FOS, PLD1, RPS6KA3, RPS6KA1, RPS6KB2, MAPK10
43phosphatidylinositol448.5ATF4, FOS, PLD1, RPS6KA1, RPS6KB2, MAPK10
44Adenosine triphosphate24 119.4NEK4, RPS6KA5, RPS6KA3, RPS6KA1, RPS6KB2, RPS6KA6
45calcium44 50 24 1111.1ATF4, FOS, PLD1, RPS6KA5, RPS6KA3, MAPK10
46tyrosine447.5RPS6KA5, PLD1, FOS, ATF4, RPS6KA3, RPS6KA1
47threonine447.3FOS, PLD1, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1
48adp44 28 249.3PHKA2, NEK4, PLD1, RPS6KA5, RPS6KA3, RPS6KA1
49magnesium44 24 119.0NEK4, PLD1, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1
50serine447.0ATF4, FOS, PLD1, RPS6KA5, RPS6KA2, RPS6KA3

GO Terms for genes affiliated with Coffin-Lowry Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.6CREB1, FOS, ATF4
2cytosolGO:0058296.7FOS, RPS6KA2, RPS6KA3, RPS6KA1, RPS6KA6, MAPK10
3nucleoplasmGO:0056546.1SKP1, ATF4, FOS, RPS6KA5, RPS6KA2, RPS6KA3

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1regulation of translation in response to stressGO:04355510.1RPS6KA1, RPS6KA3
2regulation of DNA-templated transcription in response to stressGO:04362010.0RPS6KA1, RPS6KA3
3positive regulation of cell differentiationGO:0455979.9RPS6KA1, RPS6KA3
4positive regulation of osteoclast differentiationGO:0456729.9CREB1, FOS
5phosphatidylinositol-mediated signalingGO:0480159.6RPS6KB2, MAPKAP1, CREB1
6Fc-epsilon receptor signaling pathwayGO:0380959.4FOS, RPS6KB2, MAPK10, MAPKAP1, CREB1
7fibroblast growth factor receptor signaling pathwayGO:0085439.3CREB1, MAPKAP1, RPS6KB2
8epidermal growth factor receptor signaling pathwayGO:0071739.3RPS6KA5, RPS6KB2, MAPKAP1, CREB1
9protein phosphorylationGO:0064689.0PHKA2, CREB1, RPS6KA5, NEK4
10positive regulation of transcription from RNA polymerase II promoterGO:0459448.7ATF4, FOS, RPS6KA5, RPS6KA3, RPS6KA1, CREB1
11synaptic transmissionGO:0072688.6RPS6KA2, RPS6KA3, RPS6KA1, RPS6KA6, CREB1
12stress-activated MAPK cascadeGO:0514038.2CREB1, FOS, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1
13axon guidanceGO:0074118.2RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, RPS6KA6, CREB1
14toll-like receptor 10 signaling pathwayGO:0341668.2MAPK10, RPS6KA1, RPS6KA3, RPS6KA2, RPS6KA5, FOS
15toll-like receptor 5 signaling pathwayGO:0341468.2FOS, CREB1, MAPK10, RPS6KA1, RPS6KA3, RPS6KA2
16toll-like receptor TLR1:TLR2 signaling pathwayGO:0381238.2RPS6KA5, FOS, RPS6KA2, RPS6KA3, RPS6KA1, CREB1
17toll-like receptor TLR6:TLR2 signaling pathwayGO:0381248.2CREB1, MAPK10, RPS6KA1, RPS6KA3, RPS6KA2, RPS6KA5
18toll-like receptor 9 signaling pathwayGO:0341628.2CREB1, MAPK10, RPS6KA1, RPS6KA3, RPS6KA2, RPS6KA5
19toll-like receptor 2 signaling pathwayGO:0341348.2FOS, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, MAPK10
20TRIF-dependent toll-like receptor signaling pathwayGO:0356668.1FOS, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, MAPK10
21MyD88-independent toll-like receptor signaling pathwayGO:0027568.1MAPK10, RPS6KA1, RPS6KA3, RPS6KA2, RPS6KA5, FOS
22MyD88-dependent toll-like receptor signaling pathwayGO:0027558.1FOS, CREB1, MAPK10, RPS6KA1, RPS6KA3, RPS6KA2
23signal transductionGO:0071658.1RPS6KA2, RPS6KA3, RPS6KA1, RPS6KB2, RPS6KA6, MAPK10
24toll-like receptor 3 signaling pathwayGO:0341388.1FOS, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, MAPK10
25toll-like receptor 4 signaling pathwayGO:0341428.1FOS, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, MAPK10
26toll-like receptor signaling pathwayGO:0022248.1FOS, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, MAPK10
27neurotrophin TRK receptor signaling pathwayGO:0480118.0RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, RPS6KB2, MAPKAP1
28innate immune responseGO:0450877.5FOS, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, RPS6KB2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cysteine-type endopeptidase inhibitor activity involved in apoptotic processGO:0430279.9RPS6KA1, RPS6KA3
2ribosomal protein S6 kinase activityGO:0047119.3RPS6KB2, RPS6KA2
3protein kinase activityGO:0046729.0RPS6KA5, RPS6KA3, RPS6KB2, RPS6KA6
4magnesium ion bindingGO:0002878.3RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, RPS6KA6
5protein serine/threonine kinase activityGO:0046747.6RPS6KA6, RPS6KB2, RPS6KA1, RPS6KA3, RPS6KA2, RPS6KA5
6ATP bindingGO:0055247.2NEK4, RPS6KA5, RPS6KA2, RPS6KA3, RPS6KA1, RPS6KB2
7protein bindingGO:0055155.9ATF4, FOS, PLD1, RPS6KA5, RPS6KA2, RPS6KA1

Products for genes affiliated with Coffin-Lowry Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Coffin-Lowry Syndrome

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet