MCID: CFF002
MIFTS: 57

Coffin-Lowry Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Bone diseases, Mental diseases categories

Aliases & Classifications for Coffin-Lowry Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 42NCIt, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Coffin-Lowry Syndrome:

Name: Coffin-Lowry Syndrome 49 10 11 68 21 45 22 23 47 12 51 65 36 67
Cls 68 45 23 51 67
Mental Retardation with Osteocartilaginous Abnormalities 68 45 23
 
Coffin Lowry Syndrome 46 24
Coffin Syndrome 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
coffin-lowry syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal


External Ids:

OMIM49 303600
Disease Ontology10 DOID:3783
NCIt42 C84643
MeSH36 D038921
Orphanet51 192
SNOMED-CT59 15182000
UMLS via Orphanet66 C0265252
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 D038921
MedGen34 C0265252

Summaries for Coffin-Lowry Syndrome

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NINDS:46 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, , 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 cystic fibrosis and symptomatic form of coffin-lowry syndrome in female carriers, 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, 90kDa, Polypeptide 3), and among its related pathways are Melanocyte Development and Pigmentation and Immune response_IL-6 signaling pathway. Affiliated tissues include bone, kidney and eye, and related mouse phenotype muscle.

NIH Rare Diseases:45 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:23 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:49 Coffin-Lowry syndrome is a rare form of X-linked mental retardation characterized by skeletal malformations, growth... (303600) more...

UniProtKB/Swiss-Prot:67 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:68 Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental... more...

GeneReviews summary for cls

Related Diseases for Coffin-Lowry Syndrome

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

(show top 50)    (show all 257)
idRelated DiseaseScoreTop Affiliating Genes
1cystic fibrosis10.7
2symptomatic form of coffin-lowry syndrome in female carriers10.6
3cardiomyopathy10.5
4neuronitis10.5
5essential tremor10.5
6obstructive lung disease10.5
7asthma10.5
8asthma 110.5
9cork-handlers' disease10.5
10pulmonary disease, chronic obstructive10.4
11non-suppurative otitis media10.4
12asthma 210.4
13respiratory system disease10.4
14coffin syndrome 110.4
15schizophrenia10.3
16coffin-siris syndrome10.3
17johanson-blizzard syndrome10.3
18hydrocephalus10.3
19status epilepticus10.3
20sensorineural hearing loss10.3
21stickler syndrome10.3
22communicating hydrocephalus10.3
23lactic acidosis10.3
24hydrops fetalis10.3
25left ventricular noncompaction10.3
26myoclonus10.3
27gitelman syndrome10.3
28autonomic nervous system disease10.3
29blood protein disease10.3
30peripheral nervous system disease10.3
31mouth disease10.3
32pancreatitis10.3
33hemophilia b10.3
34hemophilia a10.3
35coagulation protein disease10.3
36factor viii deficiency10.3
37blood coagulation disease10.3
38inherited blood coagulation disease10.3
39vascular hemostatic disease10.3
40factor v leiden thrombophilia10.3
41hemophilia10.3
42severe hemophilia a10.3
43severe hemophilia b10.3
44drug rash with eosinophilia and systemic symptoms10.3
45osteopetrosis10.2
46adjustment disorder10.2
47ischemia10.2
48x-linked disease10.2
49greenberg skeletal dysplasia10.2
50coronary heart disease 610.2

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

Symptoms:

 51 (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 115)
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 skeletal muscle atrophy 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 abnormality of 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 prominent supraorbital ridges HP:0000336
73 sensorineural hearing impairment HP:0000407
74 protruding ear HP:0000411
75 wide nose HP:0000445
76 anteverted nares HP:0000463
77 downslanted palpebral fissures HP:0000494
78 telecanthus HP:0000506
79 thick eyebrow HP:0000574
80 hypodontia HP:0000668
81 widely spaced teeth HP:0000687
82 dental malocclusion HP:0000689
83 pectus excavatum HP:0000767
84 pectus carinatum HP:0000768
85 single transverse palmar crease HP:0000954
86 cutis marmorata HP:0000965
87 cutis laxa HP:0000973
88 broad palm HP:0001169
89 tapered finger HP:0001182
90 hyperextensibility of the finger joints HP:0001187
91 intellectual disability HP:0001249
92 seizures HP:0001250
93 muscular hypotonia HP:0001252
94 x-linked dominant inheritance HP:0001423
95 delayed closure of the anterior fontanelle HP:0001476
96 mitral regurgitation HP:0001653
97 pes planus HP:0001763
98 hyperconvex fingernails HP:0001812
99 rectal prolapse HP:0002035
100 ventriculomegaly HP:0002119
101 coarse hair HP:0002208
102 highly arched eyebrow HP:0002553
103 scoliosis HP:0002650
104 coxa valga HP:0002673
105 thickened calvaria HP:0002684
106 delayed skeletal maturation HP:0002750
107 kyphosis HP:0002808
108 narrow iliac wings HP:0002868
109 short stature HP:0004322
110 decreased body weight HP:0004325
111 drumstick terminal phalanges HP:0006129
112 lumbar kyphosis HP:0008454
113 thick nasal septum HP:0009746
114 short metacarpal HP:0010049
115 bifid sternum HP:0010309

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 Syndrome22 24 RPS6KA3

Anatomical Context for Coffin-Lowry Syndrome

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MalaCards organs/tissues related to Coffin-Lowry Syndrome:

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.3CREB1, EDNRB, PDHA1, RPS6KA3, RPS6KB2

Publications for Coffin-Lowry Syndrome

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Articles related to Coffin-Lowry Syndrome:

(show top 50)    (show all 116)
idTitleAuthorsYear
1
Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome. (26279655)
2015
2
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. (25044551)
2014
3
The Coffin-Lowry Syndrome-Associated Protein RSK2 Regulates Neurite Outgrowth through Phosphorylation of Phospholipase D1 (PLD1) and Synthesis of Phosphatidic Acid. (24336713)
2013
4
Mitral and tricuspid valve surgery for Coffin-Lowry syndrome. (23873216)
2013
5
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
6
Stimulus-induced drop episodes in Coffin-Lowry syndrome. (22490425)
2012
7
Four novel RSK2 mutations in females with Coffin-Lowry syndrome. (20637903)
2010
8
The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion. (21061166)
2010
9
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
10
The Coffin-Lowry syndrome-associated protein RSK2 controls neuroendocrine secretion through the regulation of phospholipase D1 at the exocytotic sites. (19161391)
2009
11
Dopaminergic system dysregulation in the mrsk2_KO mouse, an animal model of the Coffin-Lowry syndrome. (18823370)
2008
12
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. (17586481)
2007
13
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. (17100996)
2006
14
Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. (16879200)
2006
15
Treatment of drop episodes in Coffin-Lowry syndrome. (16021355)
2006
16
A case of Coffin-Lowry syndrome with premature exfoliation of primary teeth. (16643544)
2006
17
RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes. (15668050)
2005
18
The movement disorders of Coffin-Lowry syndrome. (15668049)
2005
19
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay. (16306095)
2005
20
ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome. (15109498)
2004
21
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. (14986828)
2003
22
Coffin-Lowry syndrome. (14719793)
2003
23
Coffin-Lowry syndrome: clinical and molecular features. (12362025)
2002
24
Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes. (12210291)
2002
25
Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome. (11992250)
2002
26
Cognitive function in Coffin-Lowry syndrome. (12030896)
2002
27
A female with Coffin-Lowry syndrome and "cataplexy". (12558110)
2002
28
Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response. (11022143)
2000
29
Coffin-Lowry syndrome: current status. (10398230)
1999
30
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. (10528858)
1999
31
Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome. (9832033)
1998
32
Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis. (9467016)
1998
33
New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome. (9610000)
1998
34
"Cataplexy" in Coffin-Lowry syndrome. (9719387)
1998
35
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. (8955270)
1996
36
Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers. (8588856)
1995
37
Corpus callosum agenesis in Coffin-Lowry syndrome. (8031540)
1994
38
Callosal dysgenesis in a patient with Coffin-Lowry syndrome. (7927588)
1994
39
Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2. (1349200)
1992
40
Calcified ligamenta flava in a patient with Coffin-Lowry syndrome: biochemical analysis of glycosaminoglycans. (2398636)
1990
41
The radiology of Coffin-Lowry syndrome. (2306591)
1990
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

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

67 (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:

5 (show all 19)
id Gene Variation 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 variantPathogenicrs587776755GRCh37Chr 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
19RPS6KA3RPS6KA3, 7.2-KB DELdeletionPathogenic

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 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CREB1, RPS6KA3
29.6CREB1, FOS
3
Show member pathways
9.6CREB1, FOS
49.6CREB1, FOS
59.6CREB1, FOS
69.6CREB1, FOS
7
Show member pathways
9.6CREB1, FOS
89.6CREB1, RPS6KB2
99.4EDNRB, FOS
109.3CREB1, PDHA1, PHKA2
11
Show member pathways
9.3CREB1, FOS, RPS6KA3
12
Show member pathways
9.3CREB1, FOS, RPS6KA3
139.3CREB1, FOS, RPS6KA3
149.3CREB1, FOS, RPS6KA3
159.3CREB1, FOS, RPS6KA3
169.2FOS, RPS6KA3, RPS6KB2
17
Show member pathways
8.8CREB1, FOS, RPS6KA3, RPS6KB2
18
Show member pathways
8.2CREB1, EDNRB, FOS, RASA2, RPS6KA3
19
Show member pathways
8.0CREB1, FOS, PDHA1, PHKA2, RPS6KA3, RPS6KB2

GO Terms for genes affiliated with Coffin-Lowry Syndrome

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of osteoclast differentiationGO:004567210.1CREB1, FOS
2toll-like receptor signaling pathwayGO:00022249.7CREB1, FOS, RPS6KA3
3MyD88-dependent toll-like receptor signaling pathwayGO:00027559.7CREB1, FOS, RPS6KA3
4MyD88-independent toll-like receptor signaling pathwayGO:00027569.7CREB1, FOS, RPS6KA3
5toll-like receptor 2 signaling pathwayGO:00341349.7CREB1, FOS, RPS6KA3
6toll-like receptor 3 signaling pathwayGO:00341389.6CREB1, FOS, RPS6KA3
7toll-like receptor 4 signaling pathwayGO:00341429.6CREB1, FOS, RPS6KA3
8toll-like receptor 5 signaling pathwayGO:00341469.6CREB1, FOS, RPS6KA3
9toll-like receptor 9 signaling pathwayGO:00341629.6CREB1, FOS, RPS6KA3
10toll-like receptor 10 signaling pathwayGO:00341669.6CREB1, FOS, RPS6KA3
11TRIF-dependent toll-like receptor signaling pathwayGO:00356669.6CREB1, FOS, RPS6KA3
12toll-like receptor TLR1:TLR2 signaling pathwayGO:00381239.6CREB1, FOS, RPS6KA3
13toll-like receptor TLR6:TLR2 signaling pathwayGO:00381249.6CREB1, FOS, RPS6KA3
14response to lipopolysaccharideGO:00324969.5EDNRB, FOS, RPS6KA3
15stress-activated MAPK cascadeGO:00514039.5CREB1, FOS, RPS6KA3
16protein phosphorylationGO:00064689.2CREB1, PHKA2, RPS6KA3, RPS6KB2
17fibroblast growth factor receptor signaling pathwayGO:00085439.2CREB1, RASA2, RPS6KB2
18epidermal growth factor receptor signaling pathwayGO:00071738.8CREB1, RASA2, RPS6KB2
19Fc-epsilon receptor signaling pathwayGO:00380958.7CREB1, FOS, RASA2, RPS6KB2
20neurotrophin TRK receptor signaling pathwayGO:00480118.6CREB1, RASA2, RPS6KA3, RPS6KB2
21innate immune responseGO:00450877.5CAMP, CREB1, FOS, RASA2, RPS6KA3, RPS6KB2

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

idNameGO IDScoreTop Affiliating Genes
1ribosomal protein S6 kinase activityGO:00047119.6RPS6KA3, RPS6KB2

Sources for Coffin-Lowry Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet