MCID: CFF002
MIFTS: 58

Coffin-Lowry Syndrome

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

Aliases & Classifications for Coffin-Lowry Syndrome

MalaCards integrated aliases for Coffin-Lowry Syndrome:

Name: Coffin-Lowry Syndrome 54 12 72 23 50 24 25 56 71 29 13 52 42 14 69
Cls 50 25 56 71
Mental Retardation with Osteocartilaginous Abnormalities 72 50 25
Coffin Lowry Syndrome 51
Coffin Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
coffin-lowry syndrome
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal;

OMIM:

54
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:

32
coffin-lowry syndrome:
Mortality/Aging death in early adulthood
Inheritance sporadic x-linked dominant inheritance


Classifications:



Summaries for Coffin-Lowry Syndrome

NINDS : 51 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 short stature, scoliosis and optic atrophy. An important gene associated with Coffin-Lowry Syndrome is RPS6KA3 (Ribosomal Protein S6 Kinase A3), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and IL-2 Pathway. Affiliated tissues include bone, heart and kidney, and related phenotypes are Decreased viability and cardiovascular system

NIH Rare Diseases : 50 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

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.

Genetics Home Reference : 25 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 : 54
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)

Wikipedia : 72 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 59)
id Related Disease Score Top Affiliating Genes
1 symptomatic form of coffin-lowry syndrome in female carriers 12.1
2 coffin syndrome 1 11.7
3 cenani-lenz syndactyly syndrome 11.1
4 cutis laxa, autosomal recessive, type iia 10.8
5 cutis laxa, autosomal recessive, type ia 10.8
6 clostridium septicum infection 10.8
7 cutis laxa, autosomal recessive, type iib 10.8
8 split hand urinary anomalies spina bifida 10.8
9 van der woude syndrome 2 10.8
10 cleft lip +/- cleft palate 10.8
11 van der woude syndrome 10.8
12 cystic fibrosis 10.3
13 autosomal recessive disease 10.2 PDHA1 RPS6KA3
14 cardiomyopathy 10.2
15 emphysematous cholecystitis 10.2 RPS6KA1 RPS6KA3
16 neuronitis 10.1
17 sleep apnea 10.0
18 obstructive sleep apnea 10.0
19 left ventricular noncompaction 10.0
20 stickler syndrome 10.0
21 sensorineural hearing loss 10.0
22 johanson-blizzard syndrome 10.0
23 communicating hydrocephalus 10.0
24 corpus callosum agenesis 10.0
25 status epilepticus 10.0
26 hydrops fetalis 10.0
27 schizophrenia 10.0
28 hydrocephalus 10.0
29 cervicitis 10.0
30 myoclonus 10.0
31 lactic acidosis 10.0
32 pancreatitis 9.9
33 gitelman syndrome 9.9
34 osteopetrosis 9.8
35 ischemia 9.8
36 adenoma 9.8
37 renal tubular acidosis 9.8
38 endotheliitis 9.8
39 cytomegalovirus infection 9.8 CREB1 FOS
40 hepatoblastoma 9.7
41 thyroiditis 9.7
42 epilepsy 9.7
43 cerebritis 9.7
44 hypokalemia 9.7
45 breast cancer 9.6
46 diarrhea 9.6
47 cleft lip 9.6
48 squamous cell carcinoma 9.6
49 arthritis 9.6
50 thyroid cancer 9.6

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:

54

Growth- Height:
short stature
normal birth length

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

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

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

Skeletal- Pelvis:
coxa valga
narrow iliac wings

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

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

Head And Neck- Ears:
sensorineural hearing loss
prominent ears

Skeletal- Feet:
flat feet

Genitourinary- Internal Genitalia Female:
uterine prolapse

Cardiovascular- Heart:
mitral insufficiency

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

Skeletal- Limbs:
forearm fullness
extensible joints

Skeletal- Spine:
scoliosis
kyphosis
lumbar gibbus deformity

Head And Neck- Face:
coarse facies
prominent chin
prominent brow

Skeletal:
delayed bone age

Head And Neck- Head:
microcephaly

Skeletal- Hands:
short metacarpals
hyperextensible fingers
tapering fingers
transverse palmar creases
large, soft hands
more
Chest- External Features:
pectus carinatum
pectus excavatum

Genitourinary- External Genitalia Male:
inguinal hernia

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

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

Skin Nails & Hair- Nails:
hyperconvex fingernails
small fingernails

Abdomen- Gastroin testinal:
rectal prolapse

Chest- Ribs Sternum 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:

56 32 (show top 50) (show all 97)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 scoliosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002650
3 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
4 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
5 wide mouth 56 32 frequent (33%) Frequent (79-30%) HP:0000154
6 ventriculomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002119
7 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
9 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
10 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
11 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
12 kyphosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002808
13 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
14 anteverted nares 56 32 hallmark (90%) Very frequent (99-80%) HP:0000463
15 muscle weakness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001324
16 narrow palate 56 32 frequent (33%) Frequent (79-30%) HP:0000189
17 pectus carinatum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000768
18 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
19 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
20 cerebral cortical atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002120
21 pectus excavatum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000767
22 open mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000194
23 hypodontia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000668
24 self-injurious behavior 56 32 occasional (7.5%) Occasional (29-5%) HP:0100716
25 downslanted palpebral fissures 56 32 hallmark (90%) Very frequent (99-80%) HP:0000494
26 pes planus 56 32 frequent (33%) Frequent (79-30%) HP:0001763
27 thick nasal alae 56 32 hallmark (90%) Very frequent (99-80%) HP:0009928
28 high palate 56 32 frequent (33%) Frequent (79-30%) HP:0000218
29 joint hyperflexibility 56 32 hallmark (90%) Very frequent (99-80%) HP:0005692
30 widely spaced teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000687
31 narrow iliac wings 56 32 frequent (33%) Frequent (79-30%) HP:0002868
32 epicanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000286
33 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
34 feeding difficulties in infancy 56 32 frequent (33%) Frequent (79-30%) HP:0008872
35 delayed skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002750
36 sensorineural hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000407
37 redundant skin 56 32 frequent (33%) Frequent (79-30%) HP:0001582
38 gait disturbance 56 32 frequent (33%) Frequent (79-30%) HP:0001288
39 sleep apnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0010535
40 hyperconvex fingernails 56 32 frequent (33%) Frequent (79-30%) HP:0001812
41 wide nose 56 32 frequent (33%) Frequent (79-30%) HP:0000445
42 large hands 56 32 hallmark (90%) Very frequent (99-80%) HP:0001176
43 thick lower lip vermilion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000179
44 short metacarpal 56 32 frequent (33%) Frequent (79-30%) HP:0010049
45 delayed eruption of teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000684
46 progressive spasticity 56 32 frequent (33%) Frequent (79-30%) HP:0002191
47 everted lower lip vermilion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000232
48 craniofacial hyperostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0004493
49 neurological speech impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0002167
50 abnormality of retinal pigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0007703

UMLS symptoms related to Coffin-Lowry Syndrome:


seizures

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.5 PHKA2 RPS6KA1
2 Decreased viability GR00221-A-2 9.5 PHKA2 RPS6KA1 RPS6KA3
3 Decreased viability GR00221-A-3 9.5 PHKA2 RPS6KA1
4 Decreased viability GR00221-A-4 9.5 PHKA2 RPS6KA1
5 Decreased viability GR00301-A 9.5 RPS6KA1
6 Decreased viability GR00342-S-1 9.5 PHKA2 RPS6KA1 RPS6KA3
7 Decreased viability GR00342-S-2 9.5 PHKA2
8 Decreased viability GR00342-S-3 9.5 PHKA2

MGI Mouse Phenotypes related to Coffin-Lowry Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 ATF4 CREB1 EDNRB PDHA1 PLD1 RPS6KA3
2 muscle MP:0005369 9.35 ATF4 CREB1 EDNRB PDHA1 RPS6KA3
3 nervous system MP:0003631 9.17 ATF4 CREB1 EDNRB FOS PDHA1 PLD1

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:

id Genetic test Affiliating Genes
1 Coffin-Lowry Syndrome 29 24 RPS6KA3

Anatomical Context for Coffin-Lowry Syndrome

MalaCards organs/tissues related to Coffin-Lowry Syndrome:

39
Bone, Heart, Kidney, Eye, Skin, Skeletal Muscle, Cerebellum

Publications for Coffin-Lowry Syndrome

Articles related to Coffin-Lowry Syndrome:

(show top 50) (show all 122)
id Title Authors Year
1
Foramen magnum compression in Coffin-Lowry syndrome: A case report. ( 28190284 )
2017
2
Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome. ( 26914125 )
2016
3
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
4
Mechanical ventilation in Coffin-Lowry syndrome: a case report. ( 28099645 )
2016
5
Difficult airway management using the Pentax-AWS Airwayscope with a thin Intlock and bronchofiberscope in a patient with Coffin-Lowry syndrome. ( 26897436 )
2016
6
Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation. ( 26927527 )
2016
7
Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome. ( 26297997 )
2016
8
Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome. ( 26279655 )
2015
9
Consider the neuro-cardiac continuum of Coffin-Lowry syndrome! ( 25974232 )
2015
10
Loss of the Coffin-Lowry syndrome-associated gene RSK2 alters ERK activity, synaptic function and axonal transport in Drosophila motoneurons. ( 26398944 )
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
Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome. ( 25667906 )
2014
13
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
14
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. ( 25044551 )
2014
15
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
16
Ocular surgery in a child with Coffin Lowry syndrome: Anesthetic concerns. ( 23493967 )
2013
17
The Coffin-Lowry Syndrome-Associated Protein RSK2 Regulates Neurite Outgrowth through Phosphorylation of Phospholipase D1 (PLD1) and Synthesis of Phosphatidic Acid. ( 24336713 )
2013
18
Mitral and tricuspid valve surgery for Coffin-Lowry syndrome. ( 23873216 )
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
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
21
Stimulus-induced drop episodes in Coffin-Lowry syndrome. ( 22490425 )
2012
22
Hypoplastic root cementum and premature loss of primary teeth in Coffin-Lowry syndrome: a case report. ( 21781198 )
2012
23
A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome. ( 21614984 )
2011
24
Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern. ( 22009732 )
2011
25
Altered ERK/MAPK signaling in the hippocampus of the mrsk2_KO mouse model of Coffin-Lowry syndrome. ( 21838783 )
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
Coffin-Lowry syndrome: a role for RSK2 in mammalian neurogenesis. ( 20832397 )
2010
28
The Coffin-Lowry syndrome: a case report and review of the literature. ( 20707959 )
2010
29
The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion. ( 21061166 )
2010
30
Coffin-Lowry syndrome. ( 19888300 )
2010
31
Four novel RSK2 mutations in females with Coffin-Lowry syndrome. ( 20637903 )
2010
32
The Coffin-Lowry syndrome-associated protein RSK2 controls neuroendocrine secretion through the regulation of phospholipase D1 at the exocytotic sites. ( 19161391 )
2009
33
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. ( 19903636 )
2009
34
The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1. ( 18550821 )
2008
35
Dopaminergic system dysregulation in the mrsk2_KO mouse, an animal model of the Coffin-Lowry syndrome. ( 18823370 )
2008
36
The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient. ( 17717706 )
2007
37
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. ( 17586481 )
2007
38
The musculoskeletal manifestations of the Coffin-Lowry syndrome. ( 17195803 )
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
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome. ( 17318637 )
2007
41
Treatment of drop attacks in Coffin-Lowry syndrome with the use of sodium oxybate. ( 17950427 )
2007
42
Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. ( 16879200 )
2006
43
Treatment of drop episodes in Coffin-Lowry syndrome. ( 16021355 )
2006
44
A case of Coffin-Lowry syndrome with premature exfoliation of primary teeth. ( 16643544 )
2006
45
Coffin-Lowry syndrome: findings and dental treatment. ( 17249444 )
2006
46
A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome. ( 16691578 )
2006
47
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. ( 17100996 )
2006
48
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay. ( 16306095 )
2005
49
RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes. ( 15668050 )
2005
50
The movement disorders of Coffin-Lowry syndrome. ( 15668049 )
2005

Variations for Coffin-Lowry Syndrome

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

71 (show all 11)
id 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)
id 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 GeneCards Suite gene sharing:

(show top 50) (show all 59)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 ATF4 CREB1 FOS PLD1 RPS6KA1 RPS6KA3
2
Show member pathways
13.04 ATF4 CREB1 FOS RPS6KA1 RPS6KA3
3
Show member pathways
12.9 ATF4 CREB1 PLD1 RPS6KA3
4
Show member pathways
12.88 FOS PLD1 RPS6KA1 RPS6KA3
5
Show member pathways
12.75 FOS PDHA1 PHKA2 RPS6KA1
6
Show member pathways
12.74 ATF4 CREB1 EDNRB FOS
7
Show member pathways
12.71 ATF4 CREB1 PLD1 RPS6KA1
8
Show member pathways
12.65 ATF4 CREB1 FOS PLD1 RPS6KA1
9
Show member pathways
12.62 CREB1 FOS RPS6KA1 RPS6KA3
10
Show member pathways
12.61 ATF4 CREB1 FOS RPS6KA1 RPS6KA3
11
Show member pathways
12.6 ATF4 CREB1 FOS PLD1
12 12.55 ATF4 FOS RPS6KA1 RPS6KA3
13
Show member pathways
12.49 ATF4 CREB1 EDNRB FOS RPS6KA1 RPS6KA3
14
Show member pathways
12.45 ATF4 CREB1 FOS RPS6KA1
15
Show member pathways
12.39 ATF4 CREB1 FOS
16
Show member pathways
12.38 FOS RPS6KA1 RPS6KA3
17
Show member pathways
12.34 CREB1 FOS RPS6KA1
18 12.28 ATF4 CREB1 FOS
19 12.28 ATF4 CREB1 FOS
20
Show member pathways
12.27 CREB1 PLD1 RPS6KA1 RPS6KA3
21
Show member pathways
12.24 CREB1 FOS RPS6KA1
22
Show member pathways
12.23 CREB1 FOS RPS6KA1 RPS6KA3
23
Show member pathways
12.19 CREB1 RPS6KA1 RPS6KA3
24
Show member pathways
12.19 ATF4 CREB1 FOS
25
Show member pathways
12.16 CREB1 FOS PLD1
26
Show member pathways
12.1 CREB1 RPS6KA1 RPS6KA3
27
Show member pathways
12.06 ATF4 CREB1 FOS RPS6KA1 RPS6KA3
28
Show member pathways
12.04 FOS RPS6KA1 RPS6KA3
29
Show member pathways
12.04 ATF4 CREB1 RPS6KA1 RPS6KA3
30
Show member pathways
12 ATF4 CREB1 RPS6KA1
31 11.94 CREB1 FOS RPS6KA1 RPS6KA3
32
Show member pathways
11.91 FOS RPS6KA1 RPS6KA3
33
Show member pathways
11.88 CREB1 RPS6KA1 RPS6KA3
34
Show member pathways
11.87 FOS RPS6KA1 RPS6KA3
35
Show member pathways
11.84 ATF4 CREB1 FOS
36
Show member pathways
11.8 CREB1 RPS6KA1 RPS6KA3
37 11.79 FOS RPS6KA1 RPS6KA3
38 11.79 ATF4 CREB1 FOS
39
Show member pathways
11.78 ATF4 CREB1 FOS RPS6KA1 RPS6KA3
40 11.77 ATF4 CREB1 PDHA1 PHKA2
41 11.74 ATF4 CREB1 FOS
42 11.74 CREB1 FOS PLD1 RPS6KA3
43
Show member pathways
11.7 CREB1 FOS RPS6KA1 RPS6KA3
44 11.57 CREB1 FOS PLD1 RPS6KA1 RPS6KA3
45 11.5 CREB1 FOS PLD1 RPS6KA1
46 11.46 ATF4 CREB1
47 11.45 EDNRB FOS
48
Show member pathways
11.42 CREB1 FOS
49 11.39 FOS RPS6KA1
50 11.35 EDNRB PLD1

GO Terms for Coffin-Lowry Syndrome

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.71 CREB1 PHKA2 RPS6KA1 RPS6KA3
2 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.55 ATF4 CREB1 FOS RPS6KA1 RPS6KA3
3 response to lipopolysaccharide GO:0032496 9.54 EDNRB FOS RPS6KA3
4 aging GO:0007568 9.5 CREB1 EDNRB FOS
5 positive regulation of cell differentiation GO:0045597 9.43 RPS6KA1 RPS6KA3
6 positive regulation of osteoclast differentiation GO:0045672 9.26 CREB1 FOS
7 regulation of DNA-templated transcription in response to stress GO:0043620 8.96 RPS6KA1 RPS6KA3
8 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:

id Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.54 ATF4 CREB1 FOS
2 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.5 ATF4 CREB1 FOS
3 transcription regulatory region DNA binding GO:0044212 9.33 ATF4 CREB1 FOS
4 RNA polymerase II activating transcription factor binding GO:0001102 9.26 CREB1 FOS
5 cysteine-type endopeptidase inhibitor activity involved in apoptotic process GO:0043027 8.96 RPS6KA1 RPS6KA3
6 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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