MCID: CFF002
MIFTS: 56

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:
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 47NINDS, 25GTR, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Coffin-Lowry Syndrome:

Name: Coffin-Lowry Syndrome 50 11 69 22 46 23 24 13 52 68 12 48 37 66
Cls 46 24 52 68
Mental Retardation with Osteocartilaginous Abnormalities 69 46 24
 
Coffin Lowry Syndrome 47 25
Coffin Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
coffin-lowry syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal

HPO:

62
coffin-lowry syndrome:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM50 303600
Disease Ontology11 DOID:3783
MeSH37 D038921
NCIt43 C84643
Orphanet52 ORPHA192
SNOMED-CT60 15182000
ICD10 via Orphanet29 Q87.0
MESH via Orphanet38 D038921
UMLS via Orphanet67 C0265252
MedGen35 C0265252

Summaries for Coffin-Lowry Syndrome

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NINDS:47 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 thick lower lip vermilion, open mouth and everted lower lip vermilion. An important gene associated with Coffin-Lowry Syndrome is RPS6KA3 (Ribosomal Protein S6 Kinase A3), and among its related pathways are VEGFR3 signaling in lymphatic endothelium and Interleukin-11 Signaling Pathway. Affiliated tissues include bone, kidney and eye, and related mouse phenotype muscle.

Genetics Home Reference:24 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:46 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:50 Coffin-Lowry syndrome is a rare form of X-linked mental retardation characterized by skeletal malformations, growth... (303600) more...

UniProtKB/Swiss-Prot:68 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:69 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:

 52 (show all 72)
  • wide mouth
  • thick lower lip vermilion
  • narrow palate
  • open mouth
  • high palate
  • everted lower lip vermilion
  • microcephaly
  • coarse facial features
  • epicanthus
  • hypertelorism
  • hypoplasia of the maxilla
  • sensorineural hearing impairment
  • protruding ear
  • wide nose
  • anteverted nares
  • strabismus
  • downslanted palpebral fissures
  • cataract
  • optic atrophy
  • hypodontia
  • delayed eruption of teeth
  • widely spaced teeth
  • pectus excavatum
  • pectus carinatum
  • abnormal diaphysis morphology
  • brachydactyly syndrome
  • large hands
  • tapered finger
  • intellectual disability
  • seizures
  • muscular hypotonia
  • hypertonia
  • gait disturbance
  • muscle weakness
  • broad finger
  • redundant skin
  • abnormality of the mitral valve
  • abnormality of the aortic valve
  • abnormality of the tricuspid valve
  • pes planus
  • hypoplastic fingernail
  • hyperconvex fingernails
  • frontal bossing
  • ventriculomegaly
  • cerebral cortical atrophy
  • neurological speech impairment
  • progressive spasticity
  • abnormality of neuronal migration
  • scoliosis
  • delayed skeletal maturation
  • kyphosis
  • narrow iliac wings
  • skeletal muscle atrophy
  • abnormal form of the vertebral bodies
  • short stature
  • craniofacial hyperostosis
  • depressed nasal bridge
  • joint hyperflexibility
  • advanced eruption of teeth
  • abnormality of dental morphology
  • aplasia/hypoplasia of the cerebellum
  • aplasia/hypoplasia of the corpus callosum
  • abnormal retinal pigmentation
  • feeding difficulties in infancy
  • pseudoepiphyses of the metacarpals
  • short distal phalanx of finger
  • thick nasal alae
  • short metacarpal
  • sleep apnea
  • severe global developmental delay
  • death in early adulthood
  • self-injurious behavior

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 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 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

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 Syndrome25 23 RPS6KA3

Anatomical Context for Coffin-Lowry Syndrome

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MalaCards organs/tissues related to Coffin-Lowry Syndrome:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.7CREB1, EDNRB, PDHA1, RPS6KA3, RPS6KB2

Publications for Coffin-Lowry Syndrome

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Articles related to Coffin-Lowry Syndrome:

(show top 50)    (show all 120)
idTitleAuthorsYear
1
Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation. (26927527)
2016
2
Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome. (26914125)
2016
3
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. (25044551)
2014
4
Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father. (25118007)
2014
5
The Coffin-Lowry Syndrome-Associated Protein RSK2 Regulates Neurite Outgrowth through Phosphorylation of Phospholipase D1 (PLD1) and Synthesis of Phosphatidic Acid. (24336713)
2013
6
Classic phenotype of Coffin-lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain. (24311527)
2013
7
Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome. (23261961)
2013
8
Hypoplastic root cementum and premature loss of primary teeth in Coffin-Lowry syndrome: a case report. (21781198)
2012
9
A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome. (21614984)
2011
10
Altered ERK/MAPK signaling in the hippocampus of the mrsk2_KO mouse model of Coffin-Lowry syndrome. (21838783)
2011
11
The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion. (21061166)
2010
12
The Coffin-Lowry syndrome: a case report and review of the literature. (20707959)
2010
13
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
14
The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1. (18550821)
2008
15
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. (17100996)
2006
16
Treatment of drop episodes in Coffin-Lowry syndrome. (16021355)
2006
17
A case of Coffin-Lowry syndrome with premature exfoliation of primary teeth. (16643544)
2006
18
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay. (16306095)
2005
19
ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome. (15109498)
2004
20
MRI and MRS of Coffin-Lowry syndrome: a case report. (12739239)
2003
21
Coffin-Lowry syndrome: clinical and molecular features. (12362025)
2002
22
Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes. (12210291)
2002
23
Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome. (11992250)
2002
24
A female with Coffin-Lowry syndrome and "cataplexy". (12558110)
2002
25
A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome. (12014383)
2002
26
Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response. (11022143)
2000
27
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. (10528858)
1999
28
Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS). (10094187)
1999
29
Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome. (9832033)
1998
30
New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome. (9610000)
1998
31
Germline mosaicism in Coffin-Lowry syndrome. (9887375)
1998
32
"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome. (9507386)
1998
33
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. (8955270)
1996
34
Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers. (8588856)
1995
35
Callosal dysgenesis in a patient with Coffin-Lowry syndrome. (7927588)
1994
36
Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations. (7681250)
1993
37
Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2. (1349200)
1992
38
Calcified ligamenta flava in a patient with Coffin-Lowry syndrome: biochemical analysis of glycosaminoglycans. (2398636)
1990
39
The radiology of Coffin-Lowry syndrome. (2306591)
1990
40
A case suggesting Coffin-Lowry syndrome. (2133800)
1990
41
A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter. (3177468)
1988
42
Cardiac involvement in Coffin-Lowry syndrome. (3396606)
1988
43
Coffin-Lowry syndrome: a multicenter study. (3069251)
1988
44
The Coffin-Lowry syndrome. (3290491)
1988
45
The Coffin-Lowry syndrome. A study of two new index patients and their families. (6519116)
1984
46
Forearm fullness in Coffin-Lowry syndrome: a misleading yet possible early diagnostic clue. (6465196)
1984
47
Coffin-Lowry syndrome in an Afro-American family. (7081302)
1982
48
The Coffin-Lowry syndrome. Experience from four centres. (7116677)
1982
49
Coffin-Lowry syndrome in sibs. (7234901)
1981
50
The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome. (1133653)
1975

Variations for Coffin-Lowry Syndrome

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

68 (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 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 variantPathogenicrs869320705GRCh37Chr X, 20195135: 20195135

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 35)
idSuper pathwaysScoreTop Affiliating Genes
19.7CREB1, RPS6KA1
29.7CREB1, RPS6KA1
3
Show member pathways
9.6FOS, RPS6KA3
49.6CREB1, FOS
59.6CREB1, FOS
6
Show member pathways
9.6CREB1, FOS
79.6CREB1, FOS
89.6CREB1, 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
14
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
15
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
169.4CREB1, RPS6KA1, RPS6KA3
17
Show member pathways
9.4CREB1, RPS6KA1, RPS6KA3
189.3CREB1, PDHA1, PHKA2
199.3CREB1, FOS, RPS6KA3
20
Show member pathways
9.2FOS, RPS6KA1, RPS6KA3
219.2FOS, RPS6KA1, RPS6KA3
229.2FOS, RPS6KA1, RPS6KA3
239.2CREB1, FOS, RPS6KA1
24
Show member pathways
9.2CREB1, FOS, RPS6KA1
259.1EDNRB, FOS
26
Show member pathways
8.9CREB1, FOS, RPS6KA1, RPS6KA3
278.9CREB1, FOS, RPS6KA1, RPS6KA3
28
Show member pathways
8.9CREB1, FOS, RPS6KA1, RPS6KA3
29
Show member pathways
8.9CREB1, FOS, RPS6KA1, RPS6KA3
308.9CREB1, FOS, RPS6KA1, RPS6KA3
31
Show member pathways
8.9CREB1, FOS, RPS6KA1, RPS6KA3
328.6FOS, RPS6KA1, RPS6KA3, RPS6KB2
33
Show member pathways
8.2CREB1, FOS, RPS6KA1, RPS6KA3, RPS6KB2
34
Show member pathways
8.0CREB1, EDNRB, FOS, RPS6KA1, RPS6KA3
35
Show member pathways
7.4CREB1, FOS, PDHA1, PHKA2, RPS6KA1, RPS6KA3

GO Terms for genes affiliated with Coffin-Lowry Syndrome

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1regulation of translation in response to stressGO:004355510.4RPS6KA1, RPS6KA3
2positive regulation of cell differentiationGO:004559710.1RPS6KA1, RPS6KA3
3regulation of DNA-templated transcription in response to stressGO:004362010.0RPS6KA1, RPS6KA3
4positive regulation of osteoclast differentiationGO:004567210.0CREB1, FOS
5response to lipopolysaccharideGO:00324968.7EDNRB, FOS, RPS6KA3
6agingGO:00075688.5CREB1, EDNRB, FOS
7protein phosphorylationGO:00064688.3CREB1, PHKA2, RPS6KA1, RPS6KA3, RPS6KB2

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

idNameGO IDScoreTop Affiliating Genes
1cysteine-type endopeptidase inhibitor activity involved in apoptotic processGO:00430279.7RPS6KA1, RPS6KA3

Sources for Coffin-Lowry Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet