MCID: CFF002
MIFTS: 58

Coffin-Lowry Syndrome

Categories: Genetic diseases, Rare diseases, Mental diseases, Bone diseases, Neuronal diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Coffin-Lowry Syndrome

MalaCards integrated aliases for Coffin-Lowry Syndrome:

Name: Coffin-Lowry Syndrome 53 12 72 23 49 24 55 71 36 28 13 51 41 14 69
Cls 53 49 24 55 71
Mental Retardation with Osteocartilaginous Abnormalities 49 24
Coffin Lowry Syndrome 50
Coffin Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
coffin-lowry syndrome
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal;

OMIM:

53
Inheritance:
isolated cases
x-linked dominant

Miscellaneous:
milder expression in female heterozygotes
clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies
approximately 70-80% of cases are de novo and sporadic
incidence of 1 in 50,000 to 1 in 100,000


HPO:

31
coffin-lowry syndrome:
Mortality/Aging death in early adulthood
Inheritance sporadic x-linked dominant inheritance


Classifications:



Summaries for Coffin-Lowry Syndrome

NINDS : 50 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, RSK2, 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 seizures, muscle weakness and hypertelorism. An important gene associated with Coffin-Lowry Syndrome is RPS6KA3 (Ribosomal Protein S6 Kinase A3), and among its related pathways/superpathways are MAPK signaling pathway and Oocyte meiosis. Affiliated tissues include bone, kidney and heart, and related phenotypes are Decreased viability and Decreased viability

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 : 49 Coffin-Lowry syndromeis 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 : 53 Coffin-Lowry syndrome is a rare form of X-linked mental retardation characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females (Kesler et al., 2007). Hendrich and Bickmore (2001) reviewed human disorders which share in common defects of chromatin structure or modification, including the ATR-X spectrum of disorders (301040), ICF syndrome (242860), Rett syndrome (312750), Rubinstein-Taybi syndrome (180849), and Coffin-Lowry syndrome. Marques Pereira et al. (2010) provided a review of Coffin-Lowry syndrome. Mutation in the RPS6KA3 gene can also cause nonsyndromic X-linked mental retardation-19 (MRX19; 300844), a milder disorder without skeletal anomalies. (303600)

UniProtKB/Swiss-Prot : 71 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.

GeneReviews: NBK1346

Related Diseases for Coffin-Lowry Syndrome

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 symptomatic form of coffin-lowry syndrome in female carriers 12.2
2 coffin syndrome 1 11.9
3 cenani-lenz syndactyly syndrome 11.2
4 cleft palate, isolated 11.2
5 cleft lip 11.2
6 craniosynostosis with fibular aplasia 11.1
7 cutis laxa, autosomal recessive, type ia 10.9
8 cutis laxa, autosomal recessive, type iia 10.9
9 cutis laxa, autosomal recessive, type iib 10.9
10 clostridium septicum infection 10.9
11 van der woude syndrome 1 10.9
12 van der woude syndrome 2 10.9
13 split hand urinary anomalies spina bifida 10.9
14 cystic fibrosis 10.4
15 fibrosis of extraocular muscles, congenital, 1 10.4
16 neuronitis 10.2
17 hemorrhoid 10.1 RPS6KA1 RPS6KA3
18 apnea, obstructive sleep 10.1
19 coffin-siris syndrome 1 10.1
20 schizophrenia 10.1
21 corpus callosum, agenesis of 10.1
22 johanson-blizzard syndrome 10.1
23 body mass index quantitative trait locus 11 10.1
24 aging 10.1
25 body mass index quantitative trait locus 9 10.1
26 branchiootic syndrome 1 10.1
27 body mass index quantitative trait locus 8 10.1
28 body mass index quantitative trait locus 4 10.1
29 body mass index quantitative trait locus 10 10.1
30 body mass index quantitative trait locus 7 10.1
31 body mass index quantitative trait locus 12 10.1
32 body mass index quantitative trait locus 14 10.1
33 body mass index quantitative trait locus 18 10.1
34 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
35 hydrops fetalis, nonimmune, and/or atrial septal defect 10.1
36 hydrocephalus 10.1
37 sleep apnea 10.1
38 left ventricular noncompaction 10.1
39 stickler syndrome 10.1
40 sensorineural hearing loss 10.1
41 communicating hydrocephalus 10.1
42 status epilepticus 10.1
43 cervicitis 10.1
44 lactic acidosis 10.1
45 hydrops fetalis 10.1
46 myoclonus 10.1
47 gitelman syndrome 10.0
48 pancreatitis 10.0
49 hydrops, lactic acidosis, and sideroblastic anemia 9.9
50 blood group, i system 9.9

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



Diseases related to Coffin-Lowry Syndrome

Symptoms & Phenotypes for Coffin-Lowry Syndrome

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
hypotonia
mental retardation
ventricular dilatation

Chest External Features:
pectus excavatum
pectus carinatum

Skeletal Spine:
scoliosis
kyphosis
lumbar gibbus deformity

Head And Neck Head:
microcephaly

Growth Height:
short stature
normal birth length

Skin Nails Hair Nails:
hyperconvex fingernails
small fingernails

Abdomen Gastroin testinal:
rectal prolapse

Genitourinary Internal Genitalia Female:
uterine prolapse

Growth Weight:
normal birth weight
weight less than 3rd percentile

Skeletal:
delayed bone age

Head And Neck Ears:
sensorineural hearing loss
prominent ears

Cardiovascular Heart:
mitral insufficiency

Skeletal Limbs:
forearm fullness
extensible joints

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
heavy eyebrows
arched eyebrows

Head And Neck Mouth:
high palate
narrow palate
thick, everted lower lip
large, open mouth

Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Nose:
anteverted nares
broad nose
thick alae nasi
thick nasal septum

Skeletal Pelvis:
coxa valga
narrow iliac wings

Head And Neck Teeth:
hypodontia
malocclusion
wide-spaced teeth
large medial incisors

Skin Nails Hair Skin:
cutis marmorata
transverse palmar creases
loose skin
dependent acrocyanosis

Skeletal Feet:
flat feet

Skeletal Hands:
short metacarpals
hyperextensible fingers
transverse palmar creases
tapering fingers
large, soft hands
more
Head And Neck Face:
coarse facies
prominent chin
prominent brow

Skeletal Skull:
delayed closure of anterior fontanel
thick calvarium
hypoplastic sinuses
hypoplastic mastoids

Chest RibsSternum Clavicles And Scapulae:
short bifid sternum

Skin Nails Hair Hair:
straight, coarse hair


Clinical features from OMIM:

303600

Human phenotypes related to Coffin-Lowry Syndrome:

55 31 (show top 50) (show all 100)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001324
3 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 pectus excavatum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000767
5 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
6 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
7 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
8 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
9 gait disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0001288
10 neurological speech impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0002167
11 scoliosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002650
12 kyphosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002808
13 sleep apnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0010535
14 self-injurious behavior 55 31 occasional (7.5%) Occasional (29-5%) HP:0100716
15 narrow palate 55 31 frequent (33%) Frequent (79-30%) HP:0000189
16 coarse facial features 55 31 hallmark (90%) Very frequent (99-80%) HP:0000280
17 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
18 widely spaced teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000687
19 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002750
20 craniofacial hyperostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004493
21 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
22 pectus carinatum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000768
23 pes planus 55 31 frequent (33%) Frequent (79-30%) HP:0001763
24 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
25 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
26 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
27 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
28 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
29 abnormality of retinal pigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007703
30 feeding difficulties in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0008872
31 skeletal muscle atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003202
32 thick lower lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000179
33 thick nasal alae 55 31 hallmark (90%) Very frequent (99-80%) HP:0009928
34 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
35 delayed eruption of teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000684
36 joint hyperflexibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0005692
37 epicanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000286
38 severe global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0011344
39 abnormal form of the vertebral bodies 55 31 hallmark (90%) Very frequent (99-80%) HP:0003312
40 everted lower lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000232
41 hyperconvex fingernails 55 31 frequent (33%) Frequent (79-30%) HP:0001812
42 protruding ear 55 31 frequent (33%) Frequent (79-30%) HP:0000411
43 ventriculomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002119
44 cerebral cortical atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002120
45 abnormality of neuronal migration 55 31 occasional (7.5%) Occasional (29-5%) HP:0002269
46 aplasia/hypoplasia of the cerebellum 55 31 occasional (7.5%) Occasional (29-5%) HP:0007360
47 wide mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000154
48 hypoplasia of the maxilla 55 31 frequent (33%) Frequent (79-30%) HP:0000327
49 downslanted palpebral fissures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000494
50 open mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000194

UMLS symptoms related to Coffin-Lowry Syndrome:


seizures

GenomeRNAi Phenotypes related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.07 PLD1
2 Decreased viability GR00221-A-1 10.07 PHKA2 RPS6KA1 RPS6KA6 PLD1
3 Decreased viability GR00221-A-2 10.07 PHKA2 RPS6KA1 RPS6KA6 RPS6KA3
4 Decreased viability GR00221-A-3 10.07 PLD1 PHKA2 RPS6KA1
5 Decreased viability GR00221-A-4 10.07 RPS6KA1 RPS6KA6 PHKA2
6 Decreased viability GR00301-A 10.07 RPS6KA1
7 Decreased viability GR00342-S-1 10.07 PHKA2 RPS6KA1 RPS6KA3
8 Decreased viability GR00342-S-2 10.07 PHKA2 RPS6KA6
9 Decreased viability GR00342-S-3 10.07 PHKA2 RPS6KA6
10 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.26 PHKA2 RPS6KA1 RPS6KA3 RPS6KA6

MGI Mouse Phenotypes related to Coffin-Lowry Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.1 ATF4 CREB1 PDHA1 PLD1 RPS6KA3 RPS6KA6

Drugs & Therapeutics for Coffin-Lowry Syndrome

Search Clinical Trials , NIH Clinical Center for Coffin-Lowry Syndrome

Cochrane evidence based reviews: coffin-lowry syndrome

Genetic Tests for Coffin-Lowry Syndrome

Genetic tests related to Coffin-Lowry Syndrome:

# Genetic test Affiliating Genes
1 Coffin-Lowry Syndrome 28 RPS6KA3

Anatomical Context for Coffin-Lowry Syndrome

MalaCards organs/tissues related to Coffin-Lowry Syndrome:

38
Bone, Kidney, Heart, Eye, Skin, Skeletal Muscle, Cerebellum

Publications for Coffin-Lowry Syndrome

Articles related to Coffin-Lowry Syndrome:

(show top 50) (show all 123)
# Title Authors Year
1
Foramen magnum compression in Coffin-Lowry syndrome: A case report. ( 28190284 )
2017
2
Perioperative management of a patient with Coffin-Lowry syndrome complicated by severe obesity: A case report and literature review. ( 29245289 )
2017
3
Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation. ( 26927527 )
2016
4
Difficult airway management using the Pentax-AWS Airwayscope with a thin Intlock and bronchofiberscope in a patient with Coffin-Lowry syndrome. ( 26897436 )
2016
5
Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome. ( 26297997 )
2016
6
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
7
Mechanical ventilation in Coffin-Lowry syndrome: a case report. ( 28099645 )
2016
8
Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome. ( 26914125 )
2016
9
Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome. ( 26279655 )
2015
10
Consider the neuro-cardiac continuum of Coffin-Lowry syndrome! ( 25974232 )
2015
11
A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings. ( 26043507 )
2015
12
Loss of the Coffin-Lowry syndrome-associated gene RSK2 alters ERK activity, synaptic function and axonal transport in Drosophila motoneurons. ( 26398944 )
2015
13
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. ( 25044551 )
2014
14
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
15
Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome. ( 25667906 )
2014
16
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
17
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
18
The Coffin-Lowry Syndrome-Associated Protein RSK2 Regulates Neurite Outgrowth through Phosphorylation of Phospholipase D1 (PLD1) and Synthesis of Phosphatidic Acid. ( 24336713 )
2013
19
Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome. ( 23261961 )
2013
20
Mitral and tricuspid valve surgery for Coffin-Lowry syndrome. ( 23873216 )
2013
21
Ocular surgery in a child with Coffin Lowry syndrome: Anesthetic concerns. ( 23493967 )
2013
22
Stimulus-induced drop episodes in Coffin-Lowry syndrome. ( 22490425 )
2012
23
Hypoplastic root cementum and premature loss of primary teeth in Coffin-Lowry syndrome: a case report. ( 21781198 )
2012
24
Altered ERK/MAPK signaling in the hippocampus of the mrsk2_KO mouse model of Coffin-Lowry syndrome. ( 21838783 )
2011
25
Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern. ( 22009732 )
2011
26
Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin-Lowry syndrome. ( 21116650 )
2011
27
A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome. ( 21614984 )
2011
28
The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion. ( 21061166 )
2010
29
The Coffin-Lowry syndrome: a case report and review of the literature. ( 20707959 )
2010
30
Four novel RSK2 mutations in females with Coffin-Lowry syndrome. ( 20637903 )
2010
31
Coffin-Lowry syndrome. ( 19888300 )
2010
32
Coffin-Lowry syndrome: a role for RSK2 in mammalian neurogenesis. ( 20832397 )
2010
33
The Coffin-Lowry syndrome-associated protein RSK2 controls neuroendocrine secretion through the regulation of phospholipase D1 at the exocytotic sites. ( 19161391 )
2009
34
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. ( 19903636 )
2009
35
The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1. ( 18550821 )
2008
36
Dopaminergic system dysregulation in the mrsk2_KO mouse, an animal model of the Coffin-Lowry syndrome. ( 18823370 )
2008
37
The musculoskeletal manifestations of the Coffin-Lowry syndrome. ( 17195803 )
2007
38
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. ( 17586481 )
2007
39
Deletion of the Coffin-Lowry syndrome gene Rsk2 in mice is associated with impaired spatial learning and reduced control of exploratory behavior. ( 17033934 )
2007
40
Treatment of drop attacks in Coffin-Lowry syndrome with the use of sodium oxybate. ( 17950427 )
2007
41
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome. ( 17318637 )
2007
42
The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient. ( 17717706 )
2007
43
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. ( 17100996 )
2006
44
Coffin-Lowry syndrome: findings and dental treatment. ( 17249444 )
2006
45
Treatment of drop episodes in Coffin-Lowry syndrome. ( 16021355 )
2006
46
A case of Coffin-Lowry syndrome with premature exfoliation of primary teeth. ( 16643544 )
2006
47
Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. ( 16879200 )
2006
48
A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome. ( 16691578 )
2006
49
The movement disorders of Coffin-Lowry syndrome. ( 15668049 )
2005
50
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay. ( 16306095 )
2005

Variations for Coffin-Lowry Syndrome

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

71 (show all 11)
# Symbol AA change Variation ID SNP ID
1 RPS6KA3 p.Gly75Val VAR_006189 rs122454124
2 RPS6KA3 p.Val82Phe VAR_006190 rs122454126
3 RPS6KA3 p.Arg114Trp VAR_006191 rs122454127
4 RPS6KA3 p.His127Gln VAR_006192
5 RPS6KA3 p.Asp154Tyr VAR_006193
6 RPS6KA3 p.Ala225Val VAR_006194 rs879027948
7 RPS6KA3 p.Ser227Ala VAR_006195 rs122454125
8 RPS6KA3 p.Gly431Asp VAR_006196
9 RPS6KA3 p.Arg729Gln VAR_006197 rs28935171
10 RPS6KA3 p.Ile189Lys VAR_065894 rs122454130
11 RPS6KA3 p.Phe268Ser VAR_065896 rs122454131

ClinVar genetic disease variations for Coffin-Lowry Syndrome:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPS6KA3 RPS6KA3, 187-BP DEL, NT406 deletion Pathogenic
2 RPS6KA3 NM_004586.2(RPS6KA3): c.224G> T (p.Gly75Val) single nucleotide variant Pathogenic rs122454124 GRCh37 Chromosome X, 20227425: 20227425
3 RPS6KA3 NM_004586.2(RPS6KA3): c.679T> G (p.Ser227Ala) single nucleotide variant Pathogenic rs122454125 GRCh37 Chromosome X, 20206041: 20206041
4 RPS6KA3 NM_004586.2(RPS6KA3): c.244G> T (p.Val82Phe) single nucleotide variant Pathogenic rs122454126 GRCh37 Chromosome X, 20222221: 20222221
5 RPS6KA3 NM_004586.2(RPS6KA3): c.326-1G> C single nucleotide variant Pathogenic rs587776755 GRCh37 Chromosome X, 20213264: 20213264
6 RPS6KA3 NM_004586.2(RPS6KA3): c.340C> T (p.Arg114Trp) single nucleotide variant Pathogenic rs122454127 GRCh37 Chromosome X, 20213249: 20213249
7 RPS6KA3 RPS6KA3, 2-BP DEL, 451AG deletion Pathogenic
8 RPS6KA3 NM_004586.2(RPS6KA3): c.2065C> T (p.Gln689Ter) single nucleotide variant Pathogenic rs122454128 GRCh37 Chromosome X, 20174262: 20174262
9 RPS6KA3 NM_004586.2(RPS6KA3): c.2186G> A (p.Arg729Gln) single nucleotide variant Pathogenic/Likely pathogenic rs28935171 GRCh37 Chromosome X, 20173553: 20173553
10 RPS6KA3 NM_004586.2(RPS6KA3): c.566T> A (p.Ile189Lys) single nucleotide variant Pathogenic rs122454130 GRCh37 Chromosome X, 20211632: 20211632
11 RPS6KA3 RPS6KA3, IVS6, A-G, +3 single nucleotide variant Pathogenic
12 RPS6KA3 RPS6KA3, IVS5, A-G, -11 single nucleotide variant Pathogenic
13 RPS6KA3 RPS6KA3, 1-BP DEL, 2144C deletion Pathogenic
14 RPS6KA3 RPS6KA3, IVS12, A-G, -2 single nucleotide variant Pathogenic
15 RPS6KA3 RPS6KA3, IVS3, L1 INS, -8 insertion Pathogenic
16 RPS6KA3 NM_004586.2(RPS6KA3): c.803T> C (p.Phe268Ser) single nucleotide variant Pathogenic rs122454131 GRCh37 Chromosome X, 20204456: 20204456
17 RPS6KA3 RPS6KA3, 3-BP DEL, 1428TAT deletion Pathogenic
18 RPS6KA3 RPS6KA3, DUP EXONS 17-20, NT1959 duplication Pathogenic
19 RPS6KA3 RPS6KA3, 7.2-KB DEL deletion Pathogenic
20 RPS6KA3 NM_004586.2(RPS6KA3): c.913C> T (p.Arg305Ter) single nucleotide variant Pathogenic rs869320705 GRCh37 Chromosome X, 20195135: 20195135
21 RPS6KA3 NM_004586.2(RPS6KA3): c.1539_1542delACGA (p.Glu515Profs) deletion Pathogenic rs886043293 GRCh37 Chromosome X, 20185767: 20185770
22 RPS6KA3 NM_004586.2(RPS6KA3): c.1762G> C (p.Glu588Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 20164901: 20164901

Expression for Coffin-Lowry Syndrome

Search GEO for disease gene expression data for Coffin-Lowry Syndrome.

Pathways for Coffin-Lowry Syndrome

Pathways related to Coffin-Lowry Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Oocyte meiosis hsa04114

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

(show top 50) (show all 67)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 ATF4 CREB1 FOS PLD1 RPS6KA1 RPS6KA3
2
Show member pathways
13.65 ATF4 CREB1 FOS RPS6KA1 RPS6KA3 RPS6KA6
3
Show member pathways
13.06 ATF4 CREB1 FOS RPS6KA1 RPS6KA3 RPS6KA6
4
Show member pathways
12.91 ATF4 CREB1 PLD1 RPS6KA3
5
Show member pathways
12.91 FOS PLD1 RPS6KA1 RPS6KA3 RPS6KA6
6
Show member pathways
12.87 CREB1 RPS6KA1 RPS6KA3 RPS6KA6
7
Show member pathways
12.76 FOS PDHA1 PHKA2 RPS6KA1
8
Show member pathways
12.73 ATF4 CREB1 FOS RPS6KA1 RPS6KA3
9
Show member pathways
12.69 ATF4 CREB1 FOS PLD1 RPS6KA1
10
Show member pathways
12.65 CREB1 FOS RPS6KA1 RPS6KA3
11
Show member pathways
12.64 ATF4 CREB1 FOS PLD1
12 12.62 ATF4 FOS RPS6KA1 RPS6KA3 RPS6KA6
13
Show member pathways
12.49 ATF4 CREB1 FOS RPS6KA1
14
Show member pathways
12.48 ATF4 CREB1 FOS RPS6KA1 RPS6KA3 RPS6KA6
15
Show member pathways
12.41 FOS RPS6KA1 RPS6KA3 RPS6KA6
16
Show member pathways
12.4 ATF4 CREB1 FOS
17
Show member pathways
12.37 RPS6KA1 RPS6KA3 RPS6KA6
18
Show member pathways
12.37 ATF4 CREB1 FOS
19
Show member pathways
12.35 CREB1 FOS RPS6KA1
20
Show member pathways
12.32 RPS6KA1 RPS6KA3 RPS6KA6
21
Show member pathways
12.32 CREB1 PLD1 RPS6KA1 RPS6KA3
22 12.3 ATF4 CREB1 FOS
23 12.3 ATF4 CREB1 FOS
24
Show member pathways
12.28 CREB1 FOS RPS6KA1 RPS6KA3
25
Show member pathways
12.26 CREB1 FOS RPS6KA1
26
Show member pathways
12.22 RPS6KA1 RPS6KA3 RPS6KA6
27
Show member pathways
12.2 CREB1 RPS6KA1 RPS6KA3
28
Show member pathways
12.19 ATF4 CREB1 FOS
29
Show member pathways
12.17 CREB1 FOS PLD1
30
Show member pathways
12.13 CREB1 RPS6KA1 RPS6KA3 RPS6KA6
31
Show member pathways
12.09 ATF4 CREB1 RPS6KA6
32
Show member pathways
12.06 FOS RPS6KA1 RPS6KA3
33
Show member pathways
12.06 RPS6KA1 RPS6KA3 RPS6KA6
34
Show member pathways
12.03 ATF4 CREB1 RPS6KA1
35 11.98 CREB1 FOS RPS6KA1 RPS6KA3
36
Show member pathways
11.97 ATF4 CREB1 FOS RPS6KA1 RPS6KA3 RPS6KA6
37
Show member pathways
11.94 FOS RPS6KA1 RPS6KA3 RPS6KA6
38
Show member pathways
11.94 ATF4 CREB1 RPS6KA1 RPS6KA3 RPS6KA6
39
Show member pathways
11.93 RPS6KA1 RPS6KA3 RPS6KA6
40
Show member pathways
11.92 CREB1 RPS6KA1 RPS6KA3
41
Show member pathways
11.9 FOS RPS6KA1 RPS6KA3 RPS6KA6
42
Show member pathways
11.89 ATF4 CREB1 FOS
43 11.87 FOS RPS6KA1 RPS6KA3
44 11.87 CREB1 FOS PLD1 RPS6KA1 RPS6KA3
45 11.85 ATF4 CREB1 FOS
46
Show member pathways
11.83 CREB1 RPS6KA1 RPS6KA3 RPS6KA6
47 11.79 ATF4 CREB1 FOS
48 11.79 ATF4 CREB1 PDHA1 PHKA2
49 11.77 CREB1 FOS PLD1 RPS6KA3
50
Show member pathways
11.73 CREB1 FOS RPS6KA1 RPS6KA3

GO Terms for Coffin-Lowry Syndrome

Cellular components related to Coffin-Lowry Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 9.13 ATF4 CREB1 FOS
2 ATF4-CREB1 transcription factor complex GO:1990589 8.62 ATF4 CREB1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.65 ATF4 CREB1 FOS RPS6KA1 RPS6KA3
2 positive regulation of cell differentiation GO:0045597 9.37 RPS6KA1 RPS6KA3
3 protein phosphorylation GO:0006468 9.35 CREB1 PHKA2 RPS6KA1 RPS6KA3 RPS6KA6
4 positive regulation of osteoclast differentiation GO:0045672 9.32 CREB1 FOS
5 regulation of DNA-templated transcription in response to stress GO:0043620 9.16 RPS6KA1 RPS6KA3
6 regulation of translation in response to stress GO:0043555 8.62 RPS6KA1 RPS6KA3

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.58 ATF4 CREB1 FOS
2 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.54 ATF4 CREB1 FOS
3 transcription regulatory region DNA binding GO:0044212 9.43 ATF4 CREB1 FOS
4 magnesium ion binding GO:0000287 9.33 RPS6KA1 RPS6KA3 RPS6KA6
5 RNA polymerase II activating transcription factor binding GO:0001102 9.32 CREB1 FOS
6 cysteine-type endopeptidase inhibitor activity involved in apoptotic process GO:0043027 8.96 RPS6KA1 RPS6KA3
7 transcriptional activator activity, RNA polymerase II transcription factor binding GO:0001190 8.62 CREB1 FOS

Sources for Coffin-Lowry Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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