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, 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, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Coffin-Lowry Syndrome:

Name: Coffin-Lowry Syndrome 52 11 71 23 48 24 25 54 70 12 50 39 13 68
Cls 48 25 54 70
Mental Retardation with Osteocartilaginous Abnormalities 71 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

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,

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 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 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 & 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:

 64 54 (show all 106)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thick lower lip vermilion64 54 hallmark (90%) Very frequent (99-80%) HP:0000179
2 open mouth64 54 hallmark (90%) Very frequent (99-80%) HP:0000194
3 everted lower lip vermilion64 54 hallmark (90%) Very frequent (99-80%) HP:0000232
4 coarse facial features64 54 hallmark (90%) Very frequent (99-80%) HP:0000280
5 epicanthus64 54 hallmark (90%) Very frequent (99-80%) HP:0000286
6 hypertelorism64 54 hallmark (90%) Very frequent (99-80%) HP:0000316
7 anteverted nares64 54 hallmark (90%) Very frequent (99-80%) HP:0000463
8 downslanted palpebral fissures64 54 hallmark (90%) Very frequent (99-80%) HP:0000494
9 pectus excavatum64 54 hallmark (90%) Very frequent (99-80%) HP:0000767
10 pectus carinatum64 54 hallmark (90%) Very frequent (99-80%) HP:0000768
11 abnormal diaphysis morphology64 54 hallmark (90%) Very frequent (99-80%) HP:0000940
12 brachydactyly syndrome64 54 hallmark (90%) Very frequent (99-80%) HP:0001156
13 large hands64 54 hallmark (90%) Very frequent (99-80%) HP:0001176
14 tapered finger64 54 hallmark (90%) Very frequent (99-80%) HP:0001182
15 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
16 joint hypermobility64 hallmark (90%) HP:0001382
17 frontal bossing64 54 hallmark (90%) Very frequent (99-80%) HP:0002007
18 neurological speech impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0002167
19 scoliosis64 54 hallmark (90%) Very frequent (99-80%) HP:0002650
20 delayed skeletal maturation64 54 hallmark (90%) Very frequent (99-80%) HP:0002750
21 kyphosis64 54 hallmark (90%) Very frequent (99-80%) HP:0002808
22 abnormal form of the vertebral bodies64 54 hallmark (90%) Very frequent (99-80%) HP:0003312
23 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
24 craniofacial hyperostosis64 54 hallmark (90%) Very frequent (99-80%) HP:0004493
25 depressed nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0005280
26 abnormality of dental morphology64 54 hallmark (90%) Very frequent (99-80%) HP:0006482
27 reduced number of teeth64 hallmark (90%) HP:0009804
28 cognitive impairment64 hallmark (90%) HP:0100543
29 wide mouth64 54 typical (50%) Frequent (79-30%) HP:0000154
30 abnormality of the palate64 typical (50%) HP:0000174
31 microcephaly64 54 typical (50%) Frequent (79-30%) HP:0000252
32 abnormality of the pinna64 typical (50%) HP:0000377
33 cutis laxa64 typical (50%) HP:0000973
34 abnormality of the metacarpal bones64 typical (50%) HP:0001163
35 hypertonia64 54 typical (50%) Frequent (79-30%) HP:0001276
36 gait disturbance64 54 typical (50%) Frequent (79-30%) HP:0001288
37 pes planus64 54 typical (50%) Frequent (79-30%) HP:0001763
38 anonychia64 typical (50%) HP:0001798
39 ventriculomegaly64 54 typical (50%) Frequent (79-30%) HP:0002119
40 abnormality of pelvic girdle bone morphology64 typical (50%) HP:0002644
41 feeding difficulties in infancy64 54 typical (50%) Frequent (79-30%) HP:0008872
42 short distal phalanx of finger64 54 typical (50%) Frequent (79-30%) HP:0009882
43 sensorineural hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000407
44 blepharitis64 occasional (7.5%) HP:0000498
45 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
46 optic atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0000648
47 delayed eruption of teeth64 54 occasional (7.5%) Occasional (29-5%) HP:0000684
48 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
49 muscle weakness64 54 occasional (7.5%) Occasional (29-5%) HP:0001324
50 abnormality of the mitral valve64 54 occasional (7.5%) Occasional (29-5%) HP:0001633
51 abnormality of the aortic valve64 54 occasional (7.5%) Occasional (29-5%) HP:0001646
52 abnormality of the tricuspid valve64 54 occasional (7.5%) Occasional (29-5%) HP:0001702
53 apnea64 occasional (7.5%) HP:0002104
54 cerebral cortical atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0002120
55 abnormality of neuronal migration64 54 occasional (7.5%) Occasional (29-5%) HP:0002269
56 skeletal muscle atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0003202
57 advanced eruption of teeth64 54 occasional (7.5%) Occasional (29-5%) HP:0006288
58 aplasia/hypoplasia of the cerebellum64 54 occasional (7.5%) Occasional (29-5%) HP:0007360
59 aplasia/hypoplasia of the corpus callosum64 54 occasional (7.5%) Occasional (29-5%) HP:0007370
60 abnormality of retinal pigmentation64 54 occasional (7.5%) Occasional (29-5%) HP:0007703
61 self-injurious behavior64 54 occasional (7.5%) Occasional (29-5%) HP:0100716
62 inguinal hernia64 HP:0000023
63 uterine prolapse64 HP:0000139
64 narrow palate64 54 Frequent (79-30%) HP:0000189
65 high palate64 54 Frequent (79-30%) HP:0000218
66 mandibular prognathia64 HP:0000303
67 prominent supraorbital ridges64 HP:0000336
68 protruding ear64 54 Frequent (79-30%) HP:0000411
69 wide nose64 54 Frequent (79-30%) HP:0000445
70 telecanthus64 HP:0000506
71 thick eyebrow64 HP:0000574
72 hypodontia64 54 Very frequent (99-80%) HP:0000668
73 widely spaced teeth64 54 Very frequent (99-80%) HP:0000687
74 dental malocclusion64 HP:0000689
75 single transverse palmar crease64 HP:0000954
76 cutis marmorata64 HP:0000965
77 broad palm64 HP:0001169
78 hyperextensibility of the finger joints64 HP:0001187
79 intellectual disability64 54 Very frequent (99-80%) HP:0001249
80 delayed closure of the anterior fontanelle64 HP:0001476
81 mitral regurgitation64 HP:0001653
82 hyperconvex fingernails64 54 Frequent (79-30%) HP:0001812
83 rectal prolapse64 HP:0002035
84 coarse hair64 HP:0002208
85 highly arched eyebrow64 HP:0002553
86 coxa valga64 HP:0002673
87 thickened calvaria64 HP:0002684
88 narrow iliac wings64 54 Frequent (79-30%) HP:0002868
89 decreased body weight64 HP:0004325
90 drumstick terminal phalanges64 HP:0006129
91 lumbar kyphosis64 HP:0008454
92 thick nasal septum64 HP:0009746
93 short metacarpal64 54 Frequent (79-30%) HP:0010049
94 bifid sternum64 HP:0010309
95 hypoplasia of the maxilla54 Frequent (79-30%)
96 strabismus54 Occasional (29-5%)
97 broad finger54 Very frequent (99-80%)
98 redundant skin54 Frequent (79-30%)
99 hypoplastic fingernail54 Frequent (79-30%)
100 progressive spasticity54 Frequent (79-30%)
101 joint hyperflexibility54 Very frequent (99-80%)
102 pseudoepiphyses of the metacarpals54 Frequent (79-30%)
103 thick nasal alae54 Very frequent (99-80%)
104 sleep apnea54 Occasional (29-5%)
105 severe global developmental delay54 Very frequent (99-80%)
106 death in early adulthood54 Occasional (29-5%)

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:00053698.0CREB1, 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
Bone, Kidney, Eye, Heart, Skin, Cerebellum, Skeletal muscle

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
Difficult airway management using the Pentax-AWS Airwayscope with a thin Intlock and bronchofiberscope in a patient with Coffin-Lowry syndrome. (26897436)
2016
4
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
5
Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome. (26297997)
2016
6
Consider the neuro-cardiac continuum of Coffin-Lowry syndrome! (25974232)
2015
7
Loss of the Coffin-Lowry syndrome-associated gene RSK2 alters ERK activity, synaptic function and axonal transport in Drosophila motoneurons. (26398944)
2015
8
Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome. (26279655)
2015
9
A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings. (26043507)
2015
10
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. (25044551)
2014
11
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
12
Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome. (25667906)
2014
13
The Coffin-Lowry Syndrome-Associated Protein RSK2 Regulates Neurite Outgrowth through Phosphorylation of Phospholipase D1 (PLD1) and Synthesis of Phosphatidic Acid. (24336713)
2013
14
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
15
Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome. (23261961)
2013
16
Mitral and tricuspid valve surgery for Coffin-Lowry syndrome. (23873216)
2013
17
Ocular surgery in a child with Coffin Lowry syndrome: Anesthetic concerns. (23493967)
2013
18
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
19
Hypoplastic root cementum and premature loss of primary teeth in Coffin-Lowry syndrome: a case report. (21781198)
2012
20
Stimulus-induced drop episodes in Coffin-Lowry syndrome. (22490425)
2012
21
A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome. (21614984)
2011
22
Altered ERK/MAPK signaling in the hippocampus of the mrsk2_KO mouse model of Coffin-Lowry syndrome. (21838783)
2011
23
Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern. (22009732)
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
The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion. (21061166)
2010
26
The Coffin-Lowry syndrome: a case report and review of the literature. (20707959)
2010
27
Four novel RSK2 mutations in females with Coffin-Lowry syndrome. (20637903)
2010
28
Coffin-Lowry syndrome. (19888300)
2010
29
Coffin-Lowry syndrome: a role for RSK2 in mammalian neurogenesis. (20832397)
2010
30
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
31
The Coffin-Lowry syndrome-associated protein RSK2 controls neuroendocrine secretion through the regulation of phospholipase D1 at the exocytotic sites. (19161391)
2009
32
The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1. (18550821)
2008
33
Dopaminergic system dysregulation in the mrsk2_KO mouse, an animal model of the Coffin-Lowry syndrome. (18823370)
2008
34
Treatment of drop attacks in Coffin-Lowry syndrome with the use of sodium oxybate. (17950427)
2007
35
Deletion of the Coffin-Lowry syndrome gene Rsk2 in mice is associated with impaired spatial learning and reduced control of exploratory behavior. (17033934)
2007
36
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. (17586481)
2007
37
The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient. (17717706)
2007
38
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome. (17318637)
2007
39
The musculoskeletal manifestations of the Coffin-Lowry syndrome. (17195803)
2007
40
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. (17100996)
2006
41
Treatment of drop episodes in Coffin-Lowry syndrome. (16021355)
2006
42
A case of Coffin-Lowry syndrome with premature exfoliation of primary teeth. (16643544)
2006
43
A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome. (16691578)
2006
44
Coffin-Lowry syndrome: findings and dental treatment. (17249444)
2006
45
Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. (16879200)
2006
46
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay. (16306095)
2005
47
RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes. (15668050)
2005
48
The movement disorders of Coffin-Lowry syndrome. (15668049)
2005
49
ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome. (15109498)
2004
50
Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome. (14973203)
2004

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, 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
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:00075689.5CREB1, EDNRB, FOS
6protein phosphorylationGO:00064688.9CREB1, PHKA2, RPS6KA1, RPS6KA3, RPS6KB2
7response to lipopolysaccharideGO:00324968.8EDNRB, FOS, RPS6KA3

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
27GTR
28HGMD
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30ICD10
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