MCID: CFF002
MIFTS: 57

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 57 12 76 24 53 25 59 75 37 29 13 55 6 44 15 40 73
Cls 57 53 25 59 75
Mental Retardation with Osteocartilaginous Abnormalities 53 25
Coffin Lowry Syndrome 54
Coffin Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
coffin-lowry syndrome
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal;

OMIM:

57
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 : 54 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 bone, kidney and heart, and related phenotypes are hypertelorism and pectus excavatum

OMIM : 57 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 : 75 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.

NIH Rare Diseases : 53 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.

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.

Wikipedia : 76 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 52)
# 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 lip 11.2
5 cleft palate, isolated 11.2
6 cutis laxa, autosomal dominant 1 11.2
7 craniosynostosis with fibular aplasia 11.1
8 autosomal recessive cutis laxa type i 11.0
9 cutis laxa, autosomal recessive, type ia 10.9
10 cutis laxa, autosomal recessive, type iia 10.9
11 cutis laxa, autosomal recessive, type iib 10.9
12 clostridium septicum infection 10.9
13 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome 10.9
14 van der woude syndrome 1 10.9
15 van der woude syndrome 2 10.9
16 split hand urinary anomalies spina bifida 10.9
17 cystic fibrosis 10.5
18 hemorrhoid 10.2 RPS6KA1 RPS6KA3
19 neuronitis 10.2
20 apnea, obstructive sleep 10.1
21 coffin-siris syndrome 1 10.1
22 schizophrenia 10.1
23 corpus callosum, agenesis of 10.1
24 johanson-blizzard syndrome 10.1
25 aging 10.1
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
27 hydrops fetalis, nonimmune, and/or atrial septal defect 10.1
28 hydrocephalus 10.1
29 sleep apnea 10.1
30 left ventricular noncompaction 10.1
31 stickler syndrome 10.1
32 sensorineural hearing loss 10.1
33 communicating hydrocephalus 10.1
34 status epilepticus 10.1
35 cervicitis 10.1
36 lactic acidosis 10.1
37 movement disease 10.1
38 fetal edema 10.1
39 hydrops fetalis 10.1
40 myoclonus 10.1
41 pancreatitis 10.0
42 gitelman syndrome 10.0
43 osteopetrosis 9.9
44 ischemia 9.9
45 renal tubular acidosis 9.9
46 adenoma 9.9
47 thyroiditis 9.9
48 endotheliitis 9.9
49 cerebral hypoxia 9.9 CREB1 FOS
50 x-linked disease 9.8 PDHA1 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

Symptoms via clinical synopsis from OMIM:

57
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

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

Human phenotypes related to Coffin-Lowry Syndrome:

59 32 (show top 50) (show all 102)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
3 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
4 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
8 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
9 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
10 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
11 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
12 kyphosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002808
13 sleep apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0010535
14 self-injurious behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0100716
15 narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0000189
16 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
17 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
18 widely spaced teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000687
19 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
20 craniofacial hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004493
21 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
22 pectus carinatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000768
23 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
24 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
25 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
26 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
27 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
28 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
29 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
30 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
31 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
32 thick lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000179
33 thick nasal alae 59 32 hallmark (90%) Very frequent (99-80%) HP:0009928
34 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
35 delayed eruption of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000684
36 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
37 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
38 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
39 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
40 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
41 hyperconvex fingernails 59 32 frequent (33%) Frequent (79-30%) HP:0001812
42 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
43 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
44 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
45 abnormality of neuronal migration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002269
46 aplasia/hypoplasia of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007360
47 wide mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000154
48 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
49 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
50 open mouth 59 32 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:

26 (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 RPS6KA1 PLD1 RPS6KA6 PHKA2
3 Decreased viability GR00221-A-2 10.26 RPS6KA1 RPS6KA3 RPS6KA6 PHKA2
4 Decreased viability GR00221-A-3 10.26 PHKA2 RPS6KA1 PLD1
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 RPS6KA3 RPS6KA1 PHKA2
8 Decreased viability GR00342-S-2 10.26 RPS6KA6 PHKA2
9 Decreased viability GR00342-S-3 10.26 RPS6KA6 PHKA2
10 Decreased viability GR00402-S-2 10.26 RPS6KA1 PLD1 RPS6KA3 RPS6KA6 PHKA2
11 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.26 PHKA2 RPS6KA1 RPS6KA3 RPS6KA6

MGI Mouse Phenotypes related to Coffin-Lowry Syndrome:

46
# 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 29 RPS6KA3

Anatomical Context for Coffin-Lowry Syndrome

MalaCards organs/tissues related to Coffin-Lowry Syndrome:

41
Bone, Kidney, Heart, Eye, Skin, Skeletal Muscle, Cerebellum

Publications for Coffin-Lowry Syndrome

Articles related to Coffin-Lowry Syndrome:

(show top 50) (show all 127)
# Title Authors Year
1
The natural history of spinal deformity in patients with Coffin-Lowry syndrome. ( 29456757 )
2018
2
Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene. ( 29678278 )
2018
3
Selective alteration of adult hippocampal neurogenesis and impaired spatial pattern separation performance in the RSK2-deficient mouse model of Coffin-Lowry syndrome. ( 29627578 )
2018
4
Animal Models for Coffin-Lowry Syndrome: RSK2 and Nervous System Dysfunction. ( 29875643 )
2018
5
Foramen magnum compression in Coffin-Lowry syndrome: A case report. ( 28190284 )
2017
6
Perioperative management of a patient with Coffin-Lowry syndrome complicated by severe obesity: A case report and literature review. ( 29245289 )
2017
7
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
8
Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome. ( 26914125 )
2016
9
Difficult airway management using the Pentax-AWS Airwayscope with a thin Intlock and bronchofiberscope in a patient with Coffin-Lowry syndrome. ( 26897436 )
2016
10
Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome. ( 26297997 )
2016
11
Mechanical ventilation in Coffin-Lowry syndrome: a case report. ( 28099645 )
2016
12
Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation. ( 26927527 )
2016
13
Loss of the Coffin-Lowry syndrome-associated gene RSK2 alters ERK activity, synaptic function and axonal transport in Drosophila motoneurons. ( 26398944 )
2015
14
Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome. ( 26279655 )
2015
15
A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings. ( 26043507 )
2015
16
Consider the neuro-cardiac continuum of Coffin-Lowry syndrome! ( 25974232 )
2015
17
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. ( 25044551 )
2014
18
Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome. ( 25667906 )
2014
19
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
20
Mitral and tricuspid valve surgery for Coffin-Lowry syndrome. ( 23873216 )
2013
21
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
22
Ocular surgery in a child with Coffin Lowry syndrome: Anesthetic concerns. ( 23493967 )
2013
23
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
24
The Coffin-Lowry Syndrome-Associated Protein RSK2 Regulates Neurite Outgrowth through Phosphorylation of Phospholipase D1 (PLD1) and Synthesis of Phosphatidic Acid. ( 24336713 )
2013
25
Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome. ( 23261961 )
2013
26
Stimulus-induced drop episodes in Coffin-Lowry syndrome. ( 22490425 )
2012
27
Hypoplastic root cementum and premature loss of primary teeth in Coffin-Lowry syndrome: a case report. ( 21781198 )
2012
28
Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin-Lowry syndrome. ( 21116650 )
2011
29
Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern. ( 22009732 )
2011
30
Altered ERK/MAPK signaling in the hippocampus of the mrsk2_KO mouse model of Coffin-Lowry syndrome. ( 21838783 )
2011
31
A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome. ( 21614984 )
2011
32
Coffin-Lowry syndrome: a role for RSK2 in mammalian neurogenesis. ( 20832397 )
2010
33
Coffin-Lowry syndrome. ( 19888300 )
2010
34
The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion. ( 21061166 )
2010
35
The Coffin-Lowry syndrome: a case report and review of the literature. ( 20707959 )
2010
36
Four novel RSK2 mutations in females with Coffin-Lowry syndrome. ( 20637903 )
2010
37
The Coffin-Lowry syndrome-associated protein RSK2 controls neuroendocrine secretion through the regulation of phospholipase D1 at the exocytotic sites. ( 19161391 )
2009
38
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. ( 19903636 )
2009
39
The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1. ( 18550821 )
2008
40
Dopaminergic system dysregulation in the mrsk2_KO mouse, an animal model of the Coffin-Lowry syndrome. ( 18823370 )
2008
41
The musculoskeletal manifestations of the Coffin-Lowry syndrome. ( 17195803 )
2007
42
Treatment of drop attacks in Coffin-Lowry syndrome with the use of sodium oxybate. ( 17950427 )
2007
43
Deletion of the Coffin-Lowry syndrome gene Rsk2 in mice is associated with impaired spatial learning and reduced control of exploratory behavior. ( 17033934 )
2007
44
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome. ( 17318637 )
2007
45
The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient. ( 17717706 )
2007
46
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. ( 17586481 )
2007
47
Treatment of drop episodes in Coffin-Lowry syndrome. ( 16021355 )
2006
48
Coffin-Lowry syndrome: findings and dental treatment. ( 17249444 )
2006
49
Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. ( 16879200 )
2006
50
A case of Coffin-Lowry syndrome with premature exfoliation of primary teeth. ( 16643544 )
2006

Variations for Coffin-Lowry Syndrome

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

75 (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 42)
# 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 RPS6KA3, 7.2-KB DEL deletion Pathogenic
29 RPS6KA3 NM_004586.2(RPS6KA3): c.913C> T (p.Arg305Ter) single nucleotide variant Pathogenic rs869320705 GRCh37 Chromosome X, 20195135: 20195135
30 RPS6KA3 NM_004586.2(RPS6KA3): c.913C> T (p.Arg305Ter) single nucleotide variant Pathogenic rs869320705 GRCh38 Chromosome X, 20177017: 20177017
31 RPS6KA3 NM_004586.2(RPS6KA3): c.1539_1542delACGA (p.Glu515Profs) deletion Pathogenic rs886043293 GRCh37 Chromosome X, 20185767: 20185770
32 RPS6KA3 NM_004586.2(RPS6KA3): c.1539_1542delACGA (p.Glu515Profs) deletion Pathogenic rs886043293 GRCh38 Chromosome X, 20167649: 20167652
33 RPS6KA3 NM_004586.2(RPS6KA3): c.1762G> C (p.Glu588Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 20164901: 20164901
34 RPS6KA3 NM_004586.2(RPS6KA3): c.1762G> C (p.Glu588Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 20183019: 20183019
35 RPS6KA3 NM_004586.2(RPS6KA3): c.1000-7C> T single nucleotide variant Likely benign GRCh38 Chromosome X, 20176359: 20176359
36 RPS6KA3 NM_004586.2(RPS6KA3): c.1000-7C> T single nucleotide variant Likely benign GRCh37 Chromosome X, 20194477: 20194477
37 RPS6KA3 NM_004586.2(RPS6KA3): c.327delT (p.Arg110Glufs) deletion Pathogenic GRCh38 Chromosome X, 20195144: 20195144
38 RPS6KA3 NM_004586.2(RPS6KA3): c.327delT (p.Arg110Glufs) deletion Pathogenic GRCh37 Chromosome X, 20213262: 20213262
39 RPS6KA3 NM_004586.2(RPS6KA3): c.632-1G> A single nucleotide variant Pathogenic rs398124177 GRCh37 Chromosome X, 20206089: 20206089
40 RPS6KA3 NM_004586.2(RPS6KA3): c.632-1G> A single nucleotide variant Pathogenic rs398124177 GRCh38 Chromosome X, 20187971: 20187971
41 RPS6KA3 NM_004586.2(RPS6KA3): c.646A> G (p.Lys216Glu) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 20206074: 20206074
42 RPS6KA3 NM_004586.2(RPS6KA3): c.646A> G (p.Lys216Glu) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 20187956: 20187956

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:

37
# 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 73)
# 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 PLD1 RPS6KA1 RPS6KA3
3
Show member pathways
13.38 ATF4 CREB1 PDHA1 RPS6KA1 RPS6KA3 RPS6KA6
4
Show member pathways
13.35 ATF4 CREB1 FOS RPS6KA1 RPS6KA3
5
Show member pathways
12.92 ATF4 CREB1 PLD1 RPS6KA3
6
Show member pathways
12.89 ATF4 CREB1 FOS PLD1
7
Show member pathways
12.89 FOS PLD1 RPS6KA1 RPS6KA3 RPS6KA6
8
Show member pathways
12.87 CREB1 RPS6KA1 RPS6KA3 RPS6KA6
9
Show member pathways
12.78 ATF4 CREB1 FOS RPS6KA1 RPS6KA3
10
Show member pathways
12.77 FOS PDHA1 PHKA2 RPS6KA1
11
Show member pathways
12.77 CREB1 FOS RPS6KA1 RPS6KA3
12
Show member pathways
12.73 ATF4 CREB1 PLD1 RPS6KA1
13
Show member pathways
12.73 ATF4 CREB1 FOS PLD1
14
Show member pathways
12.7 ATF4 CREB1 FOS PLD1 RPS6KA1
15
Show member pathways
12.66 FOS RPS6KA1 RPS6KA3 RPS6KA6
16 12.63 ATF4 FOS RPS6KA1 RPS6KA3 RPS6KA6
17
Show member pathways
12.48 ATF4 CREB1 FOS RPS6KA1 RPS6KA3 RPS6KA6
18
Show member pathways
12.44 RPS6KA1 RPS6KA3 RPS6KA6
19
Show member pathways
12.44 ATF4 CREB1 FOS
20
Show member pathways
12.4 ATF4 CREB1 FOS
21
Show member pathways
12.39 FOS RPS6KA1 RPS6KA3 RPS6KA6
22
Show member pathways
12.37 RPS6KA1 RPS6KA3 RPS6KA6
23
Show member pathways
12.37 ATF4 CREB1 FOS
24
Show member pathways
12.36 CREB1 FOS RPS6KA1
25
Show member pathways
12.32 RPS6KA1 RPS6KA3 RPS6KA6
26 12.3 ATF4 CREB1 FOS
27
Show member pathways
12.3 CREB1 PLD1 RPS6KA1 RPS6KA3
28
Show member pathways
12.29 ATF4 CREB1 FOS
29
Show member pathways
12.26 CREB1 FOS RPS6KA1
30
Show member pathways
12.23 RPS6KA1 RPS6KA3 RPS6KA6
31
Show member pathways
12.21 ATF4 CREB1 FOS
32
Show member pathways
12.2 CREB1 RPS6KA1 RPS6KA3
33
Show member pathways
12.18 CREB1 FOS PLD1
34
Show member pathways
12.14 CREB1 RPS6KA1 RPS6KA3 RPS6KA6
35
Show member pathways
12.06 FOS RPS6KA1 RPS6KA3
36
Show member pathways
12.06 RPS6KA1 RPS6KA3 RPS6KA6
37
Show member pathways
12.03 ATF4 CREB1 RPS6KA1
38 12.01 CREB1 FOS RPS6KA1 RPS6KA3
39
Show member pathways
11.94 CREB1 RPS6KA1 RPS6KA3
40
Show member pathways
11.94 ATF4 CREB1 RPS6KA1 RPS6KA3 RPS6KA6
41
Show member pathways
11.93 RPS6KA1 RPS6KA3 RPS6KA6
42
Show member pathways
11.93 FOS RPS6KA1 RPS6KA3 RPS6KA6
43
Show member pathways
11.92 CREB1 RPS6KA1 RPS6KA3
44
Show member pathways
11.88 ATF4 CREB1 FOS
45 11.87 CREB1 FOS PLD1 RPS6KA1 RPS6KA3
46 11.86 FOS RPS6KA1 RPS6KA3
47
Show member pathways
11.86 CREB1 RPS6KA1 RPS6KA3 RPS6KA6
48
Show member pathways
11.85 ATF4 CREB1 FOS
49
Show member pathways
11.85 ATF4 CREB1 FOS RPS6KA1 RPS6KA3 RPS6KA6
50 11.84 ATF4 CREB1 FOS

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 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.54 ATF4 CREB1 FOS
2 transcription regulatory region DNA binding GO:0044212 9.5 ATF4 CREB1 FOS
3 magnesium ion binding GO:0000287 9.43 RPS6KA1 RPS6KA3 RPS6KA6
4 RNA polymerase II activating transcription factor binding GO:0001102 9.4 CREB1 FOS
5 cysteine-type endopeptidase inhibitor activity involved in apoptotic process GO:0043027 9.16 RPS6KA1 RPS6KA3
6 transcriptional activator activity, RNA polymerase II transcription factor binding GO:0001190 8.96 CREB1 FOS
7 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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