MCID: CFF002
MIFTS: 57

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:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Coffin-Lowry Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
coffin-lowry syndrome:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 303600
Disease Ontology10 DOID:3783
MeSH36 D038921
NCIt42 C84643
Orphanet51 192
SNOMED-CT59 15182000
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 D038921
UMLS via Orphanet66 C0265252
MedGen34 C0265252
UMLS65 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 symptomatic form of coffin-lowry syndrome in female carriers and coffin syndrome 1, and has symptoms including cognitive impairment, reduced number of teeth and abnormality of dental morphology. 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 heart, 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

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.

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...

Wikipedia:68 Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental... more...

GeneReviews summary 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

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 114)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 reduced number of teeth hallmark (90%) HP:0009804
3 abnormality of dental morphology hallmark (90%) HP:0006482
4 depressed nasal bridge hallmark (90%) HP:0005280
5 craniofacial hyperostosis hallmark (90%) HP:0004493
6 short stature hallmark (90%) HP:0004322
7 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
8 kyphosis hallmark (90%) HP:0002808
9 delayed skeletal maturation hallmark (90%) HP:0002750
10 scoliosis hallmark (90%) HP:0002650
11 neurological speech impairment hallmark (90%) HP:0002167
12 frontal bossing hallmark (90%) HP:0002007
13 joint hypermobility hallmark (90%) HP:0001382
14 muscular hypotonia hallmark (90%) HP:0001252
15 tapered finger hallmark (90%) HP:0001182
16 large hands hallmark (90%) HP:0001176
17 brachydactyly syndrome hallmark (90%) HP:0001156
18 abnormal diaphysis morphology hallmark (90%) HP:0000940
19 pectus carinatum hallmark (90%) HP:0000768
20 pectus excavatum hallmark (90%) HP:0000767
21 downslanted palpebral fissures hallmark (90%) HP:0000494
22 anteverted nares hallmark (90%) HP:0000463
23 hypertelorism hallmark (90%) HP:0000316
24 epicanthus hallmark (90%) HP:0000286
25 coarse facial features hallmark (90%) HP:0000280
26 everted lower lip vermilion hallmark (90%) HP:0000232
27 open mouth hallmark (90%) HP:0000194
28 thick lower lip vermilion hallmark (90%) HP:0000179
29 short distal phalanx of finger typical (50%) HP:0009882
30 feeding difficulties in infancy typical (50%) HP:0008872
31 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
32 ventriculomegaly typical (50%) HP:0002119
33 anonychia typical (50%) HP:0001798
34 pes planus typical (50%) HP:0001763
35 gait disturbance typical (50%) HP:0001288
36 hypertonia typical (50%) HP:0001276
37 abnormality of the metacarpal bones typical (50%) HP:0001163
38 cutis laxa typical (50%) HP:0000973
39 abnormality of the pinna typical (50%) HP:0000377
40 microcephaly typical (50%) HP:0000252
41 abnormality of the palate typical (50%) HP:0000174
42 wide mouth typical (50%) HP:0000154
43 self-injurious behavior occasional (7.5%) HP:0100716
44 abnormality of retinal pigmentation occasional (7.5%) HP:0007703
45 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
46 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
47 advanced eruption of teeth occasional (7.5%) HP:0006288
48 skeletal muscle atrophy occasional (7.5%) HP:0003202
49 abnormality of neuronal migration occasional (7.5%) HP:0002269
50 cerebral cortical atrophy occasional (7.5%) HP:0002120
51 apnea occasional (7.5%) HP:0002104
52 abnormality of the tricuspid valve occasional (7.5%) HP:0001702
53 abnormality of the aortic valve occasional (7.5%) HP:0001646
54 abnormality of the mitral valve occasional (7.5%) HP:0001633
55 muscle weakness occasional (7.5%) HP:0001324
56 seizures occasional (7.5%) HP:0001250
57 delayed eruption of teeth occasional (7.5%) HP:0000684
58 optic atrophy occasional (7.5%) HP:0000648
59 cataract occasional (7.5%) HP:0000518
60 blepharitis occasional (7.5%) HP:0000498
61 sensorineural hearing impairment occasional (7.5%) HP:0000407
62 bifid sternum HP:0010309
63 short metacarpal HP:0010049
64 thick nasal septum HP:0009746
65 lumbar kyphosis HP:0008454
66 drumstick terminal phalanges HP:0006129
67 decreased body weight HP:0004325
68 short stature HP:0004322
69 narrow iliac wings HP:0002868
70 kyphosis HP:0002808
71 delayed skeletal maturation HP:0002750
72 thickened calvaria HP:0002684
73 coxa valga HP:0002673
74 scoliosis HP:0002650
75 highly arched eyebrow HP:0002553
76 coarse hair HP:0002208
77 ventriculomegaly HP:0002119
78 rectal prolapse HP:0002035
79 hyperconvex fingernails HP:0001812
80 pes planus HP:0001763
81 mitral regurgitation HP:0001653
82 delayed closure of the anterior fontanelle HP:0001476
83 muscular hypotonia HP:0001252
84 seizures HP:0001250
85 intellectual disability HP:0001249
86 hyperextensibility of the finger joints HP:0001187
87 tapered finger HP:0001182
88 broad palm HP:0001169
89 cutis laxa HP:0000973
90 cutis marmorata HP:0000965
91 single transverse palmar crease HP:0000954
92 pectus carinatum HP:0000768
93 pectus excavatum HP:0000767
94 dental malocclusion HP:0000689
95 widely spaced teeth HP:0000687
96 hypodontia HP:0000668
97 thick eyebrow HP:0000574
98 telecanthus HP:0000506
99 downslanted palpebral fissures HP:0000494
100 anteverted nares HP:0000463
101 wide nose HP:0000445
102 protruding ear HP:0000411
103 sensorineural hearing impairment HP:0000407
104 prominent supraorbital ridges HP:0000336
105 hypertelorism HP:0000316
106 mandibular prognathia HP:0000303
107 coarse facial features HP:0000280
108 microcephaly HP:0000252
109 everted lower lip vermilion HP:0000232
110 high palate HP:0000218
111 open mouth HP:0000194
112 narrow palate HP:0000189
113 uterine prolapse HP:0000139
114 inguinal hernia HP:0000023

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 Syndrome22 RPS6KA3

Anatomical Context for Coffin-Lowry Syndrome

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MalaCards organs/tissues related to Coffin-Lowry Syndrome:

33
Bone, Kidney, Heart, Eye, Skin, Cerebellum, B cells

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:00053698.2CREB1, EDNRB, PDHA1, RPS6KA3, RPS6KB2

Publications for Coffin-Lowry Syndrome

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Articles related to Coffin-Lowry Syndrome:

(show top 50)    (show all 119)
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 20)
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
20RPS6KA3NM_004586.2(RPS6KA3): c.913C> T (p.Arg305Ter)single nucleotide variantPathogenicrs869320705GRCh38Chr X, 20177017: 20177017

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 33)
idSuper pathwaysScoreTop Affiliating Genes
19.7CREB1, RPS6KA1
29.7CREB1, RPS6KA1
3
Show member pathways
9.6CREB1, FOS
49.6CREB1, FOS
59.6CREB1, FOS
69.6CREB1, FOS
79.6CREB1, FOS
89.5FOS, RPS6KA1
99.5CREB1, RPS6KB2
10
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
11
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
129.4CREB1, RPS6KA1, RPS6KA3
13
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
14
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
15
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
169.3CREB1, PDHA1, PHKA2
179.3CREB1, FOS, RPS6KA3
18
Show member pathways
9.2FOS, RPS6KA1, RPS6KA3
19
Show member pathways
9.2FOS, RPS6KA1, RPS6KA3
209.2CREB1, FOS, RPS6KA1
21
Show member pathways
9.2CREB1, FOS, RPS6KA1
229.1EDNRB, FOS
238.9CREB1, FOS, RPS6KA1, RPS6KA3
24
Show member pathways
8.9CREB1, FOS, RPS6KA1, RPS6KA3
258.9CREB1, FOS, RPS6KA1, RPS6KA3
26
Show member pathways
8.9CREB1, FOS, RPS6KA1, RPS6KA3
27
Show member pathways
8.9CREB1, FOS, RPS6KA1, RPS6KA3
28
Show member pathways
8.9CREB1, FOS, RPS6KA1, RPS6KA3
298.7FOS, RASA2, RPS6KA1, RPS6KA3
308.6FOS, RPS6KA1, RPS6KA3, RPS6KB2
31
Show member pathways
8.2CREB1, FOS, RPS6KA1, RPS6KA3, RPS6KB2
32
Show member pathways
7.5CREB1, EDNRB, FOS, RASA2, RPS6KA1, RPS6KA3
33
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 15)
idNameGO IDScoreTop Affiliating Genes
1regulation of DNA-templated transcription in response to stressGO:004362010.4RPS6KA1, RPS6KA3
2positive regulation of cell differentiationGO:004559710.2RPS6KA1, RPS6KA3
3positive regulation of cell growthGO:003030710.1RPS6KA1, RPS6KA3
4negative regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00431549.9RPS6KA1, RPS6KA3
5toll-like receptor 4 signaling pathwayGO:00341429.9CREB1, RPS6KA1, RPS6KA3
6toll-like receptor 10 signaling pathwayGO:00341669.9CREB1, RPS6KA1, RPS6KA3
7toll-like receptor TLR6:TLR2 signaling pathwayGO:00381249.6CREB1, FOS, RPS6KA1
8intracellular signal transductionGO:00355569.5RASA2, RPS6KA3, RPS6KB2
9toll-like receptor 5 signaling pathwayGO:00341469.4CREB1, RPS6KA1, RPS6KA3
10stress-activated MAPK cascadeGO:00514039.1CREB1, FOS, RPS6KA1, RPS6KA3
11MyD88-independent toll-like receptor signaling pathwayGO:00027569.0CREB1, FOS, RPS6KA1, RPS6KA3
12TRIF-dependent toll-like receptor signaling pathwayGO:00356668.8CREB1, FOS, RPS6KA1, RPS6KA3
13neurotrophin TRK receptor signaling pathwayGO:00480118.3CREB1, RASA2, RPS6KA1, RPS6KA3, RPS6KB2
14innate immune responseGO:00450878.2CREB1, RASA2, RPS6KA1, RPS6KA3, RPS6KB2
15signal transductionGO:00071657.9CREB1, RASA2, 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
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