CLS
MCID: CFF002
MIFTS: 59

Coffin-Lowry Syndrome (CLS)

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

Aliases & Classifications for Coffin-Lowry Syndrome

MalaCards integrated aliases for Coffin-Lowry Syndrome:

Name: Coffin-Lowry Syndrome 58 12 77 25 54 26 60 76 38 30 13 56 6 45 15 74
Cls 58 54 26 60 76
Mental Retardation with Osteocartilaginous Abnormalities 54 26
Syndrome, Coffin-Lowry 41
Coffin Lowry Syndrome 55
Coffin Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
coffin-lowry syndrome
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal;

OMIM:

58
Inheritance:
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:

33
coffin-lowry syndrome:
Clinical modifier death in early adulthood
Inheritance sporadic x-linked dominant inheritance


Classifications:



Summaries for Coffin-Lowry Syndrome

NINDS : 55 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 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 kidney, bone and heart, and related phenotypes are hypertelorism and pectus excavatum

Disease Ontology : 12 An X-linked dominant disease that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has material basis in mutation in the RSK2 gene on chromosome Xp22.

Genetics Home Reference : 26 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 : 54 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.

OMIM : 58 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 : 76 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 : 77 Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental... more...

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 240)
# Related Disease Score Top Affiliating Genes
1 symptomatic form of coffin-lowry syndrome in female carriers 12.4
2 coffin syndrome 1 12.1
3 cleft lip 11.4
4 cenani-lenz syndactyly syndrome 11.4
5 cleft palate, isolated 11.4
6 cutis laxa, autosomal dominant 1 11.4
7 craniosynostosis with fibular aplasia 11.3
8 van der woude syndrome 1 11.3
9 autosomal recessive cutis laxa type i 11.2
10 cutis laxa, autosomal recessive, type ia 11.1
11 cutis laxa, autosomal recessive, type iia 11.1
12 cutis laxa, autosomal recessive, type iib 11.1
13 clostridium septicum infection 11.1
14 van der woude syndrome 2 11.1
15 split hand urinary anomalies spina bifida 11.1
16 cystic fibrosis 10.7
17 blood group, gerbich system 10.4
18 retinoblastoma 10.4
19 pontocerebellar hypoplasia 10.3
20 pulmonary hypertension, primary, 3 10.3
21 nevus comedonicus 10.3
22 pemphigus foliaceus 10.3
23 apnea, obstructive sleep 10.3
24 coffin-siris syndrome 1 10.3
25 schizophrenia 10.3
26 corpus callosum, agenesis of 10.3
27 johanson-blizzard syndrome 10.3
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
29 lymphatic malformation 7 10.3
30 hydrocephalus 10.3
31 sleep apnea 10.3
32 left ventricular noncompaction 10.3
33 stickler syndrome 10.3
34 sensorineural hearing loss 10.3
35 communicating hydrocephalus 10.3
36 status epilepticus 10.3
37 lactic acidosis 10.3
38 movement disease 10.3
39 lung disease 10.3
40 fetal edema 10.3
41 hydrops fetalis 10.3
42 xp22.3 microdeletion syndrome 10.3
43 myoclonus 10.3
44 horns in sheep 10.3
45 cutaneous leishmaniasis 10.2
46 leishmaniasis 10.2
47 gitelman syndrome 10.1
48 blood group, colton system 10.1
49 cleft lip/palate 10.1
50 hemorrhoid 10.1 RPS6KA1 RPS6KA3

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



Diseases related to Coffin-Lowry Syndrome

Symptoms & Phenotypes for Coffin-Lowry Syndrome

Human phenotypes related to Coffin-Lowry Syndrome:

60 33 (show top 50) (show all 102)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 pectus excavatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000767
3 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
4 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
5 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
6 neurological speech impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002167
7 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
8 kyphosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002808
9 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
10 widely spaced teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000687
11 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
12 craniofacial hyperostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004493
13 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
14 pectus carinatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000768
15 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
16 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
17 thick lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000179
18 thick nasal alae 60 33 hallmark (90%) Very frequent (99-80%) HP:0009928
19 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
20 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
21 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
22 abnormal form of the vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003312
23 everted lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000232
24 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
25 open mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000194
26 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
27 hypodontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000668
28 abnormality of dental morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0006482
29 abnormal diaphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0000940
30 large hands 60 33 hallmark (90%) Very frequent (99-80%) HP:0001176
31 tapered finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0001182
32 broad finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0001500
33 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
34 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
35 narrow palate 60 33 frequent (33%) Frequent (79-30%) HP:0000189
36 pes planus 60 33 frequent (33%) Frequent (79-30%) HP:0001763
37 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
38 feeding difficulties in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0008872
39 hyperconvex fingernails 60 33 frequent (33%) Frequent (79-30%) HP:0001812
40 protruding ear 60 33 frequent (33%) Frequent (79-30%) HP:0000411
41 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
42 wide mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000154
43 hypoplasia of the maxilla 60 33 frequent (33%) Frequent (79-30%) HP:0000327
44 redundant skin 60 33 frequent (33%) Frequent (79-30%) HP:0001582
45 pseudoepiphyses of the metacarpals 60 33 frequent (33%) Frequent (79-30%) HP:0009193
46 short distal phalanx of finger 60 33 frequent (33%) Frequent (79-30%) HP:0009882
47 wide nose 60 33 frequent (33%) Frequent (79-30%) HP:0000445
48 hypoplastic fingernail 60 33 frequent (33%) Frequent (79-30%) HP:0001804
49 progressive spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0002191
50 narrow iliac wings 60 33 frequent (33%) Frequent (79-30%) HP:0002868

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
arched eyebrows
heavy eyebrows

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

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 Gastrointestinal:
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

Chest External Features:
pectus excavatum
pectus carinatum

Neurologic Central Nervous System:
seizures
hypotonia
mental retardation
ventricular dilatation

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 Ribs Sternum Clavicles And Scapulae:
short bifid sternum

Skin Nails Hair Hair:
straight, coarse hair

Clinical features from OMIM:

303600

UMLS symptoms related to Coffin-Lowry Syndrome:


seizures

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

27 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.26 PLD1
2 Decreased viability GR00221-A-1 10.26 PHKA2 PLD1 RPS6KA1 RPS6KA6
3 Decreased viability GR00221-A-2 10.26 PHKA2 RPS6KA1 RPS6KA3 RPS6KA6
4 Decreased viability GR00221-A-3 10.26 PHKA2 PLD1 RPS6KA1
5 Decreased viability GR00221-A-4 10.26 PHKA2 RPS6KA1 RPS6KA6
6 Decreased viability GR00301-A 10.26 RPS6KA1
7 Decreased viability GR00342-S-1 10.26 PHKA2 RPS6KA1 RPS6KA3
8 Decreased viability GR00342-S-2 10.26 PHKA2 RPS6KA6
9 Decreased viability GR00342-S-3 10.26 PHKA2 RPS6KA6
10 Decreased viability GR00402-S-2 10.26 PHKA2 PLD1 RPS6KA1 RPS6KA3 RPS6KA6
11 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.26 PHKA2 RPS6KA1 RPS6KA3 RPS6KA6

MGI Mouse Phenotypes related to Coffin-Lowry Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 ATF4 CREB1 PDHA1 PLD1 RPS6KA3 RPS6KA6
2 embryo MP:0005380 9.02 ATF4 CREB1 FOS PDHA1 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 30 RPS6KA3

Anatomical Context for Coffin-Lowry Syndrome

MalaCards organs/tissues related to Coffin-Lowry Syndrome:

42
Kidney, Bone, Heart, Eye, Brain, Lung, Skin

Publications for Coffin-Lowry Syndrome

Articles related to Coffin-Lowry Syndrome:

(show top 50) (show all 257)
# Title Authors Year
1
Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome. ( 30791716 )
2019
2
Probable Mechanisms Involved in Immunotoxin Mediated Capillary Leak Syndrome (CLS) and Recently Developed Countering Strategies. ( 30289072 )
2018
3
The natural history of spinal deformity in patients with Coffin-Lowry syndrome. ( 29456757 )
2018
4
Selective alteration of adult hippocampal neurogenesis and impaired spatial pattern separation performance in the RSK2-deficient mouse model of Coffin-Lowry syndrome. ( 29627578 )
2018
5
Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene. ( 29678278 )
2018
6
Animal Models for Coffin-Lowry Syndrome: RSK2 and Nervous System Dysfunction. ( 29875643 )
2018
7
Growth Concerns in Coffin-Lowry Syndrome: A Case Report and Literature Review. ( 30740391 )
2018
8
SUPRACHOROIDAL INJECTION OF TRIAMCINOLONE ACETONIDE, CLS-TA, FOR MACULAR EDEMA DUE TO NONINFECTIOUS UVEITIS: A Randomized, Phase 2 Study (DOGWOOD). ( 30113933 )
2018
9
High incidence of intraoperative calcar fractures with the cementless CLS Spotorno stem. ( 29736726 )
2018
10
Foramen magnum compression in Coffin-Lowry syndrome: A case report. ( 28190284 )
2017
11
Perioperative management of a patient with Coffin-Lowry syndrome complicated by severe obesity: A case report and literature review. ( 29245289 )
2017
12
Role of closed loop stimulation pacing (CLS) in vasovagal syncope. ( 28895151 )
2017
13
Medium-energy microprobe station at the SXRMB of the CLS. ( 28009575 )
2017
14
Evaluation of the Bone-ligament and tendon insertions based on Raman spectrum and its PCA and CLS analysis. ( 28139663 )
2017
15
Corrigendum: Evaluation of the Bone-ligament and tendon insertions based on Raman spectrum and its PCA and CLS analysis. ( 28290536 )
2017
16
Can the metaphyseal anchored Metha short stem safely be revised with a standard CLS stem? A biomechanical analysis. ( 28488162 )
2017
17
Long-term results of total hip arthroplasty with the CementLess Spotorno (CLS) system. ( 28574121 )
2017
18
Endosymbiont CLS-HI plays a role in reproduction and development of Haemaphysalis longicornis. ( 29197022 )
2017
19
Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome. ( 26297997 )
2016
20
Difficult airway management using the Pentax-AWS Airwayscope with a thin Intlock and bronchofiberscope in a patient with Coffin-Lowry syndrome. ( 26897436 )
2016
21
Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome. ( 26914125 )
2016
22
Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation. ( 26927527 )
2016
23
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
24
Mechanical ventilation in Coffin-Lowry syndrome: a case report. ( 28099645 )
2016
25
Clinical outcome of design modifications to the CLS Spotorno Stem in total hip replacement. ( 27900304 )
2016
26
Mitral and tricuspid valve surgery for Coffin-Lowry syndrome. ( 23873216 )
2015
27
Consider the neuro-cardiac continuum of Coffin-Lowry syndrome! ( 25974232 )
2015
28
A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings. ( 26043507 )
2015
29
Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome. ( 26279655 )
2015
30
Loss of the Coffin-Lowry syndrome-associated gene RSK2 alters ERK activity, synaptic function and axonal transport in Drosophila motoneurons. ( 26398944 )
2015
31
The Argos-CLS Kalman Filter: Error Structures and State-Space Modelling Relative to Fastloc GPS Data. ( 25905640 )
2015
32
A Negative Index Metamaterial-Inspired UWB Antenna with an Integration of Complementary SRR and CLS Unit Cells for Microwave Imaging Sensor Applications. ( 26007721 )
2015
33
Cytogenetic Assessment of the Rat Cell Line CLS-ACI-1: An in vitro Cell Model for Mycn Overexpression. ( 26536200 )
2015
34
A Miniaturized Antenna with Negative Index Metamaterial Based on Modified SRR and CLS Unit Cell for UWB Microwave Imaging Applications. ( 28787945 )
2015
35
Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain. ( 24311527 )
2014
36
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. ( 25044551 )
2014
37
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
38
Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome. ( 25667906 )
2014
39
Performance of the CLS Spotorno uncemented stem in the third decade after implantation. ( 24692610 )
2014
40
Profile: Seth Merritt, RN, FNP, LMT, CATOM, CLS. ( 25195294 )
2014
41
Incorporating A Structured Writing Process into Existing CLS Curricula. ( 26084147 )
2014
42
Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome. ( 23261961 )
2013
43
Ocular surgery in a child with Coffin Lowry syndrome: Anesthetic concerns. ( 23493967 )
2013
44
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
45
The Coffin-Lowry syndrome-associated protein RSK2 regulates neurite outgrowth through phosphorylation of phospholipase D1 (PLD1) and synthesis of phosphatidic acid. ( 24336713 )
2013
46
Long-term durability of the CLS femoral prosthesis in patients with osteonecrosis of the femoral head. ( 23454105 )
2013
47
Pooled outcome of total hip arthroplasty with the CementLess Spotorno (CLS) system: a comparative analysis of clinical studies and worldwide arthroplasty register data. ( 23525550 )
2013
48
Ammonium-dependent shortening of CLS in yeast cells starved for essential amino acids is determined by the specific amino acid deprived, through different signaling pathways. ( 24062876 )
2013
49
Hypoplastic root cementum and premature loss of primary teeth in Coffin-Lowry syndrome: a case report. ( 21781198 )
2012
50
Stimulus-induced drop episodes in Coffin-Lowry syndrome. ( 22490425 )
2012

Variations for Coffin-Lowry Syndrome

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

76 (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 top 50) (show all 74)
# 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.224G> T (p.Gly75Val) single nucleotide variant Pathogenic rs122454124 GRCh38 Chromosome X, 20209307: 20209307
4 RPS6KA3 NM_004586.2(RPS6KA3): c.679T> G (p.Ser227Ala) single nucleotide variant Pathogenic rs122454125 GRCh37 Chromosome X, 20206041: 20206041
5 RPS6KA3 NM_004586.2(RPS6KA3): c.679T> G (p.Ser227Ala) single nucleotide variant Pathogenic rs122454125 GRCh38 Chromosome X, 20187923: 20187923
6 RPS6KA3 NM_004586.2(RPS6KA3): c.244G> T (p.Val82Phe) single nucleotide variant Pathogenic rs122454126 GRCh37 Chromosome X, 20222221: 20222221
7 RPS6KA3 NM_004586.2(RPS6KA3): c.244G> T (p.Val82Phe) single nucleotide variant Pathogenic rs122454126 GRCh38 Chromosome X, 20204103: 20204103
8 RPS6KA3 NM_004586.2(RPS6KA3): c.326-1G> C single nucleotide variant Pathogenic rs587776755 GRCh37 Chromosome X, 20213264: 20213264
9 RPS6KA3 NM_004586.2(RPS6KA3): c.326-1G> C single nucleotide variant Pathogenic rs587776755 GRCh38 Chromosome X, 20195146: 20195146
10 RPS6KA3 NM_004586.2(RPS6KA3): c.340C> T (p.Arg114Trp) single nucleotide variant Pathogenic rs122454127 GRCh37 Chromosome X, 20213249: 20213249
11 RPS6KA3 NM_004586.2(RPS6KA3): c.340C> T (p.Arg114Trp) single nucleotide variant Pathogenic rs122454127 GRCh38 Chromosome X, 20195131: 20195131
12 RPS6KA3 RPS6KA3, 2-BP DEL, 451AG deletion Pathogenic
13 RPS6KA3 NM_004586.2(RPS6KA3): c.2065C> T (p.Gln689Ter) single nucleotide variant Pathogenic rs122454128 GRCh37 Chromosome X, 20174262: 20174262
14 RPS6KA3 NM_004586.2(RPS6KA3): c.2065C> T (p.Gln689Ter) single nucleotide variant Pathogenic rs122454128 GRCh38 Chromosome X, 20156144: 20156144
15 RPS6KA3 NM_004586.2(RPS6KA3): c.2186G> A (p.Arg729Gln) single nucleotide variant Likely pathogenic rs28935171 GRCh37 Chromosome X, 20173553: 20173553
16 RPS6KA3 NM_004586.2(RPS6KA3): c.2186G> A (p.Arg729Gln) single nucleotide variant Likely pathogenic rs28935171 GRCh38 Chromosome X, 20155435: 20155435
17 RPS6KA3 NM_004586.2(RPS6KA3): c.566T> A (p.Ile189Lys) single nucleotide variant Pathogenic rs122454130 GRCh37 Chromosome X, 20211632: 20211632
18 RPS6KA3 NM_004586.2(RPS6KA3): c.566T> A (p.Ile189Lys) single nucleotide variant Pathogenic rs122454130 GRCh38 Chromosome X, 20193514: 20193514
19 RPS6KA3 RPS6KA3, IVS6, A-G, +3 single nucleotide variant Pathogenic
20 RPS6KA3 RPS6KA3, IVS5, A-G, -11 single nucleotide variant Pathogenic
21 RPS6KA3 RPS6KA3, 1-BP DEL, 2144C deletion Pathogenic
22 RPS6KA3 RPS6KA3, IVS12, A-G, -2 single nucleotide variant Pathogenic
23 RPS6KA3 RPS6KA3, IVS3, L1 INS, -8 insertion Pathogenic
24 RPS6KA3 NM_004586.2(RPS6KA3): c.803T> C (p.Phe268Ser) single nucleotide variant Pathogenic rs122454131 GRCh37 Chromosome X, 20204456: 20204456
25 RPS6KA3 NM_004586.2(RPS6KA3): c.803T> C (p.Phe268Ser) single nucleotide variant Pathogenic rs122454131 GRCh38 Chromosome X, 20186338: 20186338
26 RPS6KA3 RPS6KA3, 3-BP DEL, 1428TAT deletion Pathogenic
27 RPS6KA3 RPS6KA3, DUP EXONS 17-20, NT1959 duplication Pathogenic
28 RPS6KA3 NM_004586.2(RPS6KA3): c.632-1G> C single nucleotide variant Pathogenic rs398124177 GRCh37 Chromosome X, 20206089: 20206089
29 RPS6KA3 NM_004586.2(RPS6KA3): c.632-1G> C single nucleotide variant Pathogenic rs398124177 GRCh38 Chromosome X, 20187971: 20187971
30 RPS6KA3 RPS6KA3, 7.2-KB DEL deletion Pathogenic
31 RPS6KA3 NM_004586.2(RPS6KA3): c.913C> T (p.Arg305Ter) single nucleotide variant Pathogenic rs869320705 GRCh37 Chromosome X, 20195135: 20195135
32 RPS6KA3 NM_004586.2(RPS6KA3): c.913C> T (p.Arg305Ter) single nucleotide variant Pathogenic rs869320705 GRCh38 Chromosome X, 20177017: 20177017
33 RPS6KA3 NM_004586.2(RPS6KA3): c.1762G> C (p.Glu588Gln) single nucleotide variant Likely pathogenic rs1555927532 GRCh38 Chromosome X, 20164901: 20164901
34 RPS6KA3 NM_004586.2(RPS6KA3): c.1762G> C (p.Glu588Gln) single nucleotide variant Likely pathogenic rs1555927532 GRCh37 Chromosome X, 20183019: 20183019
35 RPS6KA3 NM_004586.2(RPS6KA3): c.1000-7C> T single nucleotide variant Likely benign rs1555933444 GRCh38 Chromosome X, 20176359: 20176359
36 RPS6KA3 NM_004586.2(RPS6KA3): c.1000-7C> T single nucleotide variant Likely benign rs1555933444 GRCh37 Chromosome X, 20194477: 20194477
37 RPS6KA3 NM_004586.2(RPS6KA3): c.327delT (p.Arg110Glufs) deletion Pathogenic rs1555943492 GRCh38 Chromosome X, 20195144: 20195144
38 RPS6KA3 NM_004586.2(RPS6KA3): c.327delT (p.Arg110Glufs) deletion Pathogenic rs1555943492 GRCh37 Chromosome X, 20213262: 20213262
39 RPS6KA3 NM_004586.2(RPS6KA3): c.1237A> G (p.Arg413Gly) single nucleotide variant Uncertain significance rs765914103 GRCh37 Chromosome X, 20190980: 20190980
40 RPS6KA3 NM_004586.2(RPS6KA3): c.1237A> G (p.Arg413Gly) single nucleotide variant Uncertain significance rs765914103 GRCh38 Chromosome X, 20172862: 20172862
41 RPS6KA3 NM_004586.2(RPS6KA3): c.646A> G (p.Lys216Glu) single nucleotide variant Likely pathogenic rs1555939456 GRCh37 Chromosome X, 20206074: 20206074
42 RPS6KA3 NM_004586.2(RPS6KA3): c.646A> G (p.Lys216Glu) single nucleotide variant Likely pathogenic rs1555939456 GRCh38 Chromosome X, 20187956: 20187956
43 RPS6KA3 NM_004586.2(RPS6KA3): c.2185C> T (p.Arg729Trp) single nucleotide variant Pathogenic/Likely pathogenic rs1555924331 GRCh38 Chromosome X, 20155436: 20155436
44 RPS6KA3 NM_004586.2(RPS6KA3): c.2185C> T (p.Arg729Trp) single nucleotide variant Pathogenic/Likely pathogenic rs1555924331 GRCh37 Chromosome X, 20173554: 20173554
45 RPS6KA3 NM_004586.2(RPS6KA3): c.1964delT (p.Leu655Argfs) deletion Likely pathogenic rs1555924704 GRCh37 Chromosome X, 20174363: 20174363
46 RPS6KA3 NM_004586.2(RPS6KA3): c.1964delT (p.Leu655Argfs) deletion Likely pathogenic rs1555924704 GRCh38 Chromosome X, 20156245: 20156245
47 RPS6KA3 NM_004586.2(RPS6KA3): c.1308C> A (p.Cys436Ter) single nucleotide variant Likely pathogenic rs1160828151 GRCh38 Chromosome X, 20172791: 20172791
48 RPS6KA3 NM_004586.2(RPS6KA3): c.1308C> A (p.Cys436Ter) single nucleotide variant Likely pathogenic rs1160828151 GRCh37 Chromosome X, 20190909: 20190909
49 RPS6KA3 NM_004586.2(RPS6KA3): c.894_902delTTTACGAAT (p.Arg300_Leu302del) deletion Uncertain significance rs1555933769 GRCh37 Chromosome X, 20195146: 20195154
50 RPS6KA3 NM_004586.2(RPS6KA3): c.894_902delTTTACGAAT (p.Arg300_Leu302del) deletion Uncertain significance rs1555933769 GRCh38 Chromosome X, 20177028: 20177036

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:

38
# 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 77)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 ATF4 CREB1 FOS PLD1 RPS6KA1 RPS6KA3
2
Show member pathways
13.67 ATF4 CREB1 FOS PLD1 RPS6KA1 RPS6KA3
3
Show member pathways
13.4 ATF4 CREB1 PDHA1 RPS6KA1 RPS6KA3 RPS6KA6
4
Show member pathways
13.38 ATF4 CREB1 FOS RPS6KA1 RPS6KA3
5
Show member pathways
13.06 ATF4 CREB1 FOS RPS6KA1 RPS6KA3 RPS6KA6
6
Show member pathways
12.93 ATF4 CREB1 PLD1 RPS6KA3
7
Show member pathways
12.92 FOS PLD1 RPS6KA1 RPS6KA3 RPS6KA6
8
Show member pathways
12.9 ATF4 CREB1 FOS PLD1
9
Show member pathways
12.88 CREB1 RPS6KA1 RPS6KA3 RPS6KA6
10
Show member pathways
12.78 FOS PDHA1 PHKA2 RPS6KA1
11
Show member pathways
12.78 ATF4 CREB1 FOS RPS6KA1 RPS6KA3
12
Show member pathways
12.74 ATF4 CREB1 PLD1 RPS6KA1
13
Show member pathways
12.74 ATF4 CREB1 FOS PLD1
14
Show member pathways
12.69 ATF4 CREB1 FOS PLD1 RPS6KA1
15
Show member pathways
12.66 CREB1 FOS RPS6KA1 RPS6KA3
16 12.65 ATF4 FOS RPS6KA1 RPS6KA3 RPS6KA6
17
Show member pathways
12.51 ATF4 CREB1 FOS RPS6KA1
18
Show member pathways
12.48 ATF4 CREB1 FOS RPS6KA1 RPS6KA3 RPS6KA6
19
Show member pathways
12.45 RPS6KA1 RPS6KA3 RPS6KA6
20
Show member pathways
12.41 ATF4 CREB1 FOS
21
Show member pathways
12.41 FOS RPS6KA1 RPS6KA3 RPS6KA6
22
Show member pathways
12.38 RPS6KA1 RPS6KA3 RPS6KA6
23
Show member pathways
12.38 ATF4 CREB1 FOS
24
Show member pathways
12.36 CREB1 FOS RPS6KA1
25
Show member pathways
12.33 CREB1 PLD1 RPS6KA1 RPS6KA3
26
Show member pathways
12.32 RPS6KA1 RPS6KA3 RPS6KA6
27 12.31 ATF4 CREB1 FOS
28
Show member pathways
12.29 ATF4 CREB1 FOS
29
Show member pathways
12.29 CREB1 FOS RPS6KA1 RPS6KA3
30
Show member pathways
12.26 CREB1 FOS RPS6KA1
31 12.24 ATF4 CREB1 FOS
32
Show member pathways
12.24 RPS6KA1 RPS6KA3 RPS6KA6
33
Show member pathways
12.21 CREB1 RPS6KA1 RPS6KA3
34
Show member pathways
12.21 ATF4 CREB1 FOS
35 12.21 CREB1 FOS PLD1
36
Show member pathways
12.19 ATF4 CREB1 FOS
37
Show member pathways
12.16 CREB1 RPS6KA1 RPS6KA3 RPS6KA6
38
Show member pathways
12.09 ATF4 CREB1 RPS6KA6
39
Show member pathways
12.07 FOS RPS6KA1 RPS6KA3
40
Show member pathways
12.07 RPS6KA1 RPS6KA3 RPS6KA6
41
Show member pathways
12.04 ATF4 CREB1 RPS6KA1
42 12.02 CREB1 FOS RPS6KA1 RPS6KA3
43
Show member pathways
11.97 ATF4 CREB1 FOS RPS6KA1 RPS6KA3 RPS6KA6
44
Show member pathways
11.95 FOS RPS6KA1 RPS6KA3 RPS6KA6
45
Show member pathways
11.94 RPS6KA1 RPS6KA3 RPS6KA6
46
Show member pathways
11.94 CREB1 RPS6KA1 RPS6KA3
47
Show member pathways
11.94 ATF4 CREB1 RPS6KA1 RPS6KA3 RPS6KA6
48
Show member pathways
11.93 FOS RPS6KA1 RPS6KA3 RPS6KA6
49
Show member pathways
11.9 ATF4 CREB1 FOS
50 11.88 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 regulatory region DNA binding GO:0044212 9.43 ATF4 CREB1 FOS
2 magnesium ion binding GO:0000287 9.33 RPS6KA1 RPS6KA3 RPS6KA6
3 RNA polymerase II activating transcription factor binding GO:0001102 9.32 CREB1 FOS
4 cysteine-type endopeptidase inhibitor activity involved in apoptotic process GO:0043027 8.96 RPS6KA1 RPS6KA3
5 ribosomal protein S6 kinase activity GO:0004711 8.8 RPS6KA1 RPS6KA3 RPS6KA6

Sources for Coffin-Lowry Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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