CLS
MCID: CFF002
MIFTS: 60

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 56 12 74 24 52 25 58 73 36 29 13 54 6 43 15 71
Cls 56 52 25 58 73
Mental Retardation with Osteocartilaginous Abnormalities 52 25
Syndrome, Coffin-Lowry 39
Coffin Lowry Syndrome 53
Coffin Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
coffin-lowry syndrome
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal;

OMIM:

56
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:

31
coffin-lowry syndrome:
Clinical modifier death in early adulthood
Inheritance sporadic x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Coffin-Lowry Syndrome

NINDS : 53 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 learning disability and fetal alcohol spectrum disorder, 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 eye, bone and heart, and related phenotypes are coarse facial features and intellectual disability

Disease Ontology : 12 A syndrome 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 : 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. Males with Coffin-Lowry syndrome typically have severe to profound intellectual disability and delayed development. Affected women may be cognitively normal, or they may have intellectual disability ranging from mild to profound. Beginning in childhood or adolescence, some people with this condition experience brief episodes of collapse when excited or startled by a loud noise. These attacks are called stimulus-induced drop episodes (SIDEs). Most affected males and some affected females have distinctive facial features including a prominent forehead, widely spaced and downward-slanting eyes, a short nose with a wide tip, and a wide mouth with full lips. These features become more pronounced with age. Soft hands with short, tapered fingers are also characteristic of Coffin-Lowry syndrome. Additional features of this condition include short stature, an unusually small head (microcephaly), progressive abnormal curvature of the spine (kyphoscoliosis), and other skeletal abnormalities.

NIH Rare Diseases : 52 Coffin-Lowry syndrome is a genetic condition that affects many parts of the body. The signs and symptoms and severity vary from person to person; however, males are typically more severely affected than females. Signs and symptoms may include distinct facial findings, short stature , microcephaly , kyphoscoliosis , other skeletal abnormalities, stimulus-induced drop episodes , intellectual disability and delayed development. Mutations in the RPS6KA3 gene cause the syndrome. It is inherited in an X-linked dominant fashion. Treatment is symptomatic.

OMIM : 56 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. 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)

KEGG : 36 Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological signs in the hand are useful aids in the diagnosis. Mutations in the RSK2 (RPS6KA3) gene cause CLS. The RPS6KA3 gene encodes RSK2 that is involved with signaling within cells.

UniProtKB/Swiss-Prot : 73 Coffin-Lowry syndrome: An X-linked mental retardation associated with facial and digital dysmorphisms, progressive skeletal malformations, growth retardation, hearing deficit and paroxysmal movement disorders.

Wikipedia : 74 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 578)
# Related Disease Score Top Affiliating Genes
1 learning disability 30.2 RPS6KA3 MECP2 H2AC18
2 fetal alcohol spectrum disorder 29.5 MECP2 H2AC18 CREB1
3 non-syndromic x-linked intellectual disability 28.7 ZNF81 ZNF41 RPS6KA3 OPHN1 MECP2
4 symptomatic form of coffin-lowry syndrome in female carriers 12.6
5 coffin syndrome 1 12.2
6 cenani-lenz syndactyly syndrome 11.6
7 distal renal tubular acidosis 11.5
8 cutis laxa, autosomal dominant 1 11.5
9 van der woude syndrome 1 11.4
10 craniosynostosis with fibular aplasia 11.4
11 autosomal recessive cutis laxa type i 11.3
12 cutis laxa, autosomal recessive, type ia 11.2
13 cutis laxa, autosomal recessive, type iia 11.2
14 cutis laxa, autosomal recessive, type iib 11.2
15 clostridium septicum infection 11.2
16 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects 11.2
17 van der woude syndrome 2 11.2
18 orofacial cleft 6 11.2
19 alacrima, achalasia, and mental retardation syndrome 10.8
20 hypotonia 10.8
21 cystic fibrosis 10.8
22 hypertelorism 10.7
23 scoliosis 10.6
24 branchiootic syndrome 1 10.6
25 hyperekplexia 10.6
26 quadriplegia 10.6
27 congestive heart failure 10.5
28 pertussis 10.5
29 cleft lip 10.5
30 atrial standstill 1 10.4
31 coffin-siris syndrome 1 10.4
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
33 sleep apnea 10.4
34 sensorineural hearing loss 10.4
35 microcephaly 10.4
36 hydrocephalus 10.4
37 dilated cardiomyopathy 10.4
38 restrictive cardiomyopathy 10.4
39 paraplegia 10.4
40 pulmonary hypertension, primary, 3 10.4
41 hairy cell leukemia 10.4
42 diarrhea 10.4
43 adrenal cortical adenocarcinoma 10.4 RPS6KA6 RPS6KA1
44 gitelman syndrome 10.4
45 cholera 10.3
46 cleft palate, isolated 10.3
47 anaplastic large cell lymphoma 10.3
48 hypokalemia 10.3
49 gas gangrene 10.3
50 cardiomyopathy, familial hypertrophic, 4 10.3 RPS6KA3 RPS6KA2 RPS6KA1

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:

58 31 (show top 50) (show all 101)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
4 craniofacial hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004493
5 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
6 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
7 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
8 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
9 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
10 widely spaced teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000687
11 pectus carinatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000768
12 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
13 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
14 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
15 thick lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000179
16 thick nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0009928
17 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
18 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
19 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
20 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
21 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
22 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
23 open mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000194
24 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
25 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
26 hypodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000668
27 abnormality of dental morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006482
28 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
29 abnormal diaphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000940
30 large hands 58 31 hallmark (90%) Very frequent (99-80%) HP:0001176
31 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
32 broad finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001500
33 narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0000189
34 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
35 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
36 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
37 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
38 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
39 hyperconvex fingernails 58 31 frequent (33%) Frequent (79-30%) HP:0001812
40 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
41 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
42 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
43 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
44 redundant skin 58 31 frequent (33%) Frequent (79-30%) HP:0001582
45 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
46 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
47 hypoplastic fingernail 58 31 frequent (33%) Frequent (79-30%) HP:0001804
48 progressive spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002191
49 narrow iliac wings 58 31 frequent (33%) Frequent (79-30%) HP:0002868
50 pseudoepiphyses of the metacarpals 58 31 frequent (33%) Frequent (79-30%) HP:0009193

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
inguinal hernia

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

Chest External Features:
pectus carinatum
pectus excavatum

Head And Neck Head:
microcephaly

Growth Height:
short stature
normal birth length

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

Skeletal Pelvis:
coxa valga
narrow iliac wings

Genitourinary Internal Genitalia Female:
uterine prolapse

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

Skeletal:
delayed bone age

Head And Neck Ears:
sensorineural hearing loss
prominent ears

Cardiovascular Heart:
mitral insufficiency

Skeletal Limbs:
forearm fullness
extensible joints

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

Skeletal Spine:
scoliosis
kyphosis
lumbar gibbus deformity

Neurologic Central Nervous System:
seizures
hypotonia
mental retardation
ventricular dilatation

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

Skin Nails Hair Nails:
hyperconvex fingernails
small fingernails

Abdomen Gastrointestinal:
rectal prolapse

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

Skeletal Feet:
flat feet

Skeletal Hands:
short metacarpals
transverse palmar creases
hyperextensible fingers
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:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.42 RPS6KA2
2 Decreased viability GR00055-A-2 10.42 RPS6KA2
3 Decreased viability GR00055-A-3 10.42 RPS6KA2
4 Decreased viability GR00106-A-0 10.42 PLD1 FOS
5 Decreased viability GR00221-A-1 10.42 PHKA2 PLD1 RPS6KA1 RPS6KA5 RPS6KA6
6 Decreased viability GR00221-A-2 10.42 PHKA2 RPS6KA1 RPS6KA3 RPS6KA5 RPS6KA6
7 Decreased viability GR00221-A-3 10.42 PHKA2 PLD1 RPS6KA1 RPS6KA2
8 Decreased viability GR00221-A-4 10.42 PHKA2 RPS6KA1 RPS6KA6
9 Decreased viability GR00249-S 10.42 RPS6KA2 ATF4 CAMP FOS RPS6KA5 ZNF41
10 Decreased viability GR00301-A 10.42 RPS6KA1 RPS6KB2
11 Decreased viability GR00342-S-1 10.42 PHKA2 RPS6KA1 RPS6KA2 RPS6KA3 RPS6KA5
12 Decreased viability GR00342-S-2 10.42 PHKA2 RPS6KA2 RPS6KA6
13 Decreased viability GR00342-S-3 10.42 PHKA2 RPS6KA6 RPS6KB2
14 Decreased viability GR00381-A-1 10.42 RPS6KA2 ATF4 EDNRB
15 Decreased viability GR00386-A-1 10.42 RPS6KA1 ATF4 ZNF41
16 Decreased viability GR00402-S-2 10.42 ZNF41
17 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.13 RPS6KA2 RPS6KA3 RPS6KA6
18 Decreased cell viability after pRB stimulation GR00230-A-1 8.85 RPS6KA5

MGI Mouse Phenotypes related to Coffin-Lowry Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 ATF4 ATRX CREB1 EDNRB MECP2 PDHA1
2 reproductive system MP:0005389 9.28 ATF4 ATRX CREB1 FOS MECP2 OPHN1

Drugs & Therapeutics for Coffin-Lowry Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chewing and Swallowing Training Program in Coffin-Lowry Syndrome: A Case Report Enrolling by invitation NCT04199546

Search 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:

40
Eye, Bone, Heart, Kidney, Skin, Brain, Skeletal Muscle

Publications for Coffin-Lowry Syndrome

Articles related to Coffin-Lowry Syndrome:

(show top 50) (show all 225)
# Title Authors PMID Year
1
A female with Coffin-Lowry syndrome and "cataplexy". 24 61 54 6 56
12558110 2002
2
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. 24 56 6 61 54
10528858 1999
3
Cardiomyopathy in Coffin-Lowry syndrome. 61 24 56 6
15214012 2004
4
A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus. 6 56 24
5581017 1971
5
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. 61 56 6
25044551 2014
6
The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient. 54 61 24 6
17717706 2007
7
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome. 61 56 54 24
17318637 2007
8
Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. 54 61 56 24
16879200 2006
9
A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome. 56 24 54 61
16691578 2006
10
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. 24 54 6 61
14986828 2003
11
Cognitive impairment in Coffin-Lowry syndrome correlates with reduced RSK2 activation. 54 61 56 24
11160957 2001
12
Germline mosaicism in Coffin-Lowry syndrome. 54 61 6 24
9887375 1998
13
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. 6 56 61
8955270 1996
14
Coffin-Lowry syndrome. 24 56 61
19888300 2010
15
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. 56 24 61
17100996 2006
16
Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes. 61 56 24
12210291 2002
17
Cognitive function in Coffin-Lowry syndrome. 61 24 56
12030896 2002
18
Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with Coffin-Lowry syndrome. 61 56 24
11078556 2000
19
Cardiac involvement in Coffin-Lowry syndrome. 61 56 24
10342551 1999
20
Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations. 24 61 6
9837815 1998
21
Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam. 56 61 24
9744638 1998
22
The Coffin-Lowry syndrome. 24 56 61
3290491 1988
23
Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome. 54 6 61
11992250 2002
24
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. 56 24
10319851 1999
25
Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS). 61 6 54
10094187 1999
26
Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome. 54 56 61
9832033 1998
27
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 24 54 61
17586481 2007
28
The movement disorders of Coffin-Lowry syndrome. 54 24 61
15668049 2005
29
RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes. 24 61 54
15668050 2005
30
Expression of the RSK2 gene during early human development. 54 61 24
14678837 2004
31
Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome. 61 54 24
14973203 2004
32
Coffin-Lowry syndrome in a patient from the Cook Islands confirmed by the presence of a unique mutation. 6 61
12439904 2002
33
Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin-Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning. 54 61 24
12393804 2002
34
Coffin-Lowry Syndrome 61 6
20301520 2002
35
X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1). 24 61 54
11896450 2002
36
Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis. 24 61 54
11746134 2001
37
Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. 61 54 24
11180593 2001
38
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. 24 54 61
10644430 1999
39
"Cataplexy" in Coffin-Lowry syndrome. 56 61
9719387 1998
40
Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22. 56 61
8585574 1995
41
The association between Coffin-Lowry syndrome and psychosis: a family study. 61 56
7841685 1994
42
Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene. 56 61
8001973 1994
43
Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations. 56 61
7681250 1993
44
Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2. 56 61
1349200 1992
45
Coffin-Lowry syndrome associated with calcium pyrophosphate crystal deposition in the ligamenta flava. 61 56
1735205 1992
46
Coffin-Lowry syndrome: a multicenter study. 56 61
3069251 1988
47
A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter. 61 56
3177468 1988
48
Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis. 61 56
3177469 1988
49
Coffin-Lowry syndrome and schizophrenia: a family report. 56 61
3625766 1987
50
Autopsy findings in two adult siblings with Coffin-Lowry syndrome. 56 61
3130866 1987

Variations for Coffin-Lowry Syndrome

ClinVar genetic disease variations for Coffin-Lowry Syndrome:

6 (show top 50) (show all 57) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPS6KA3 NM_004586.3(RPS6KA3):c.327del (p.Arg110fs)deletion Pathogenic 488448 rs1555943492 X:20213262-20213262 X:20195144-20195144
2 RPS6KA3 NM_004586.3(RPS6KA3):c.334C>T (p.Arg112Ter)SNV Pathogenic 547762 rs1555943479 X:20213255-20213255 X:20195137-20195137
3 RPS6KA3 NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter)SNV Pathogenic 547761 rs1555943484 X:20213261-20213261 X:20195143-20195143
4 RPS6KA3 NM_004586.3(RPS6KA3):c.1845del (p.Gly614_Tyr615insTer)deletion Pathogenic 566835 rs1569190602 X:20179876-20179876 X:20161758-20161758
5 RPS6KA3 NM_004586.3(RPS6KA3):c.2196del (p.Ile735fs)deletion Pathogenic 635336 X:20173543-20173543 X:20155425-20155425
6 RPS6KA3 NM_004586.3(RPS6KA3):c.932T>G (p.Leu311Ter)SNV Pathogenic 637053 X:20195116-20195116 X:20176998-20176998
7 RPS6KA3 NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter)SNV Pathogenic 652883 X:20174331-20174331 X:20156213-20156213
8 RPS6KA3 NM_004586.3(RPS6KA3):c.727C>T (p.Arg243Ter)SNV Pathogenic 651889 X:20205993-20205993 X:20187875-20187875
9 RPS6KA3 RPS6KA3, 187-BP DEL, NT406deletion Pathogenic 11650
10 RPS6KA3 NM_004586.3(RPS6KA3):c.224G>T (p.Gly75Val)SNV Pathogenic 11651 rs122454124 X:20227425-20227425 X:20209307-20209307
11 RPS6KA3 NM_004586.3(RPS6KA3):c.679T>G (p.Ser227Ala)SNV Pathogenic 11652 rs122454125 X:20206041-20206041 X:20187923-20187923
12 RPS6KA3 NM_004586.3(RPS6KA3):c.244G>T (p.Val82Phe)SNV Pathogenic 11653 rs122454126 X:20222221-20222221 X:20204103-20204103
13 RPS6KA3 NM_004586.3(RPS6KA3):c.326-1G>CSNV Pathogenic 11654 rs587776755 X:20213264-20213264 X:20195146-20195146
14 RPS6KA3 NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp)SNV Pathogenic 11655 rs122454127 X:20213249-20213249 X:20195131-20195131
15 RPS6KA3 NM_004586.3(RPS6KA3):c.451_452del (p.Arg151fs)deletion Pathogenic 11656 X:20212341-20212342 X:20194223-20194224
16 RPS6KA3 NM_004586.3(RPS6KA3):c.2065C>T (p.Gln689Ter)SNV Pathogenic 11657 rs122454128 X:20174262-20174262 X:20156144-20156144
17 RPS6KA3 NM_004586.3(RPS6KA3):c.566T>A (p.Ile189Lys)SNV Pathogenic 11660 rs122454130 X:20211632-20211632 X:20193514-20193514
18 RPS6KA3 NM_004586.3(RPS6KA3):c.486+3A>GSNV Pathogenic 11661 X:20212304-20212304 X:20194186-20194186
19 RPS6KA3 RPS6KA3, IVS5, A-G, -11SNV Pathogenic 11662
20 RPS6KA3 NM_004586.3(RPS6KA3):c.2144del (p.Ser715fs)deletion Pathogenic 11663 X:20173595-20173595 X:20155477-20155477
21 RPS6KA3 RPS6KA3, IVS12, A-G, -2SNV Pathogenic 11664
22 RPS6KA3 RPS6KA3, IVS3, L1 INS, -8insertion Pathogenic 11665
23 RPS6KA3 NM_004586.3(RPS6KA3):c.803T>C (p.Phe268Ser)SNV Pathogenic 11666 rs122454131 X:20204456-20204456 X:20186338-20186338
24 RPS6KA3 NM_004586.3(RPS6KA3):c.1428_1430del (p.Ile477del)deletion Pathogenic 11667 X:20187533-20187535 X:20169415-20169417
25 RPS6KA3 RPS6KA3, DUP EXONS 17-20, NT1959duplication Pathogenic 11668
26 RPS6KA3 NM_004586.3(RPS6KA3):c.632-1G>CSNV Pathogenic 95150 rs398124177 X:20206089-20206089 X:20187971-20187971
27 RPS6KA3 NM_004586.3(RPS6KA3):c.243+1G>ASNV Pathogenic 803734 X:20227405-20227405 X:20209287-20209287
28 RPS6KA3 RPS6KA3, 7.2-KB DELdeletion Pathogenic 190301
29 RPS6KA3 NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter)SNV Pathogenic 225519 rs869320705 X:20195135-20195135 X:20177017-20177017
30 RPS6KA3 NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp)SNV Pathogenic/Likely pathogenic 547768 rs1555924331 X:20173554-20173554 X:20155436-20155436
31 RPS6KA3 NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs)deletion Likely pathogenic 547767 rs1555924704 X:20174363-20174363 X:20156245-20156245
32 RPS6KA3 NM_004586.3(RPS6KA3):c.1308C>A (p.Cys436Ter)SNV Likely pathogenic 547766 rs1160828151 X:20190909-20190909 X:20172791-20172791
33 RPS6KA3 NM_004586.3(RPS6KA3):c.1762G>C (p.Glu588Gln)SNV Likely pathogenic 438301 rs1555927532 X:20183019-20183019 X:20164901-20164901
34 RPS6KA3 NM_004586.3(RPS6KA3):c.774+1G>CSNV Likely pathogenic 547764 rs1555939331 X:20205945-20205945 X:20187827-20187827
35 RPS6KA3 NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln)SNV Likely pathogenic 11658 rs28935171 X:20173553-20173553 X:20155435-20155435
36 RPS6KA3 NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile)SNV Likely pathogenic 559935 rs1325953089 X:20206617-20206617 X:20188499-20188499
37 RPS6KA3 NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu)SNV Likely pathogenic 522803 rs1555939456 X:20206074-20206074 X:20187956-20187956
38 RPS6KA3 NM_004586.3(RPS6KA3):c.649G>A (p.Glu217Lys)SNV Likely pathogenic 620064 rs1569216119 X:20206071-20206071 X:20187953-20187953
39 RPS6KA3 NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn)SNV Likely pathogenic 803733 X:20205972-20205972 X:20187854-20187854
40 RPS6KA3 NM_004586.3(RPS6KA3):c.1959+2dupduplication Conflicting interpretations of pathogenicity 374040 rs1057518853 X:20179759-20179760 X:20161641-20161642
41 RPS6KA3 NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)SNV Conflicting interpretations of pathogenicity 212070 rs144984628 X:20173571-20173571 X:20155453-20155453
42 RPS6KA3 NC_000023.11:g.(?_20155378)_(20176518_?)dupduplication Uncertain significance 832722 X:20173496-20194636
43 RPS6KA3 NM_004586.3(RPS6KA3):c.1004T>C (p.Leu335Pro)SNV Uncertain significance 842764 X:20194466-20194466 X:20176348-20176348
44 RPS6KA3 NM_004586.3(RPS6KA3):c.999+2dupduplication Uncertain significance 860809 X:20194549-20194550 X:20176431-20176432
45 RPS6KA3 NM_004586.3(RPS6KA3):c.707C>T (p.Ala236Val)SNV Uncertain significance 583397 rs1569216043 X:20206013-20206013 X:20187895-20187895
46 RPS6KA3 NM_004586.3(RPS6KA3):c.764G>A (p.Gly255Asp)SNV Uncertain significance 547763 rs1555939335 X:20205956-20205956 X:20187838-20187838
47 RPS6KA3 NM_004586.3(RPS6KA3):c.1877C>T (p.Pro626Leu)SNV Uncertain significance 548019 rs1555926370 X:20179844-20179844 X:20161726-20161726
48 RPS6KA3 NM_004586.3(RPS6KA3):c.754T>C (p.Trp252Arg)SNV Uncertain significance 570134 rs1569215936 X:20205966-20205966 X:20187848-20187848
49 RPS6KA3 NM_004586.3(RPS6KA3):c.295A>G (p.Met99Val)SNV Uncertain significance 579861 rs1569232184 X:20222170-20222170 X:20204052-20204052
50 RPS6KA3 NM_004586.3(RPS6KA3):c.1603-5A>GSNV Uncertain significance 579151 rs1569194162 X:20183183-20183183 X:20165065-20165065

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

73 (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

Expression for Coffin-Lowry Syndrome

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

Pathways for Coffin-Lowry Syndrome

Pathways related to Coffin-Lowry Syndrome according to KEGG:

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

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

(show top 50) (show all 56)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1 PLD1
2
Show member pathways
13.29 RPS6KB2 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 PDHA1
3
Show member pathways
13.27 RPS6KB2 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1
4
Show member pathways
13.2 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 FOS CREB1
5
Show member pathways
13.04 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 PLD1 FOS
6
Show member pathways
12.91 RPS6KB2 RPS6KA5 RPS6KA1 PHKA2 PDHA1 FOS
7
Show member pathways
12.89 RPS6KA5 RPS6KA1 PLD1 FOS CREB1 ATF4
8
Show member pathways
12.85 RPS6KB2 PLD1 FOS CREB1 ATF4
9
Show member pathways
12.85 RPS6KA3 RPS6KA2 RPS6KA1 FOS EDNRB CREB1
10 12.81 RPS6KB2 RPS6KA5 PLD1 FOS EDNRB
11 12.77 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1 FOS
12
Show member pathways
12.75 RPS6KA5 PLD1 FOS CREB1 ATF4
13
Show member pathways
12.67 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1 FOS
14
Show member pathways
12.61 RPS6KB2 PLD1 FOS ATF4
15
Show member pathways
12.59 RPS6KB2 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1
16
Show member pathways
12.52 RPS6KB2 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
17
Show member pathways
12.51 RPS6KA5 EDNRB CREB1 ATF4
18
Show member pathways
12.5 RPS6KB2 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1
19
Show member pathways
12.46 RPS6KA2 RPS6KA1 FOS CREB1
20
Show member pathways
12.42 RPS6KB2 FOS CREB1 ATF4
21
Show member pathways
12.42 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
22
Show member pathways
12.4 RPS6KA3 RPS6KA2 RPS6KA1 FOS CREB1
23
Show member pathways
12.39 RPS6KA3 RPS6KA2 RPS6KA1 PLD1
24
Show member pathways
12.34 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
25
Show member pathways
12.34 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1 CREB1
26
Show member pathways
12.26 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 CREB1
27
Show member pathways
12.24 RPS6KB2 RPS6KA6 RPS6KA2 CREB1 ATF4
28
Show member pathways
12.17 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
29 12.14 RPS6KA5 RPS6KA3 RPS6KA1 FOS CREB1
30
Show member pathways
12.07 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1
31
Show member pathways
12.06 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 FOS
32
Show member pathways
12.04 RPS6KA3 RPS6KA2 RPS6KA1 CREB1
33
Show member pathways
12.04 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1 FOS
34
Show member pathways
12.03 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 FOS CREB1
35 12.02 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 FOS
36 11.99 RPS6KA5 FOS CREB1 ATF4
37 11.99 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1 FOS
38
Show member pathways
11.97 FOS CREB1 ATF4
39 11.96 PLD1 FOS CREB1 ATF4
40 11.96 PHKA2 PDHA1 CREB1 ATF4
41
Show member pathways
11.95 RPS6KB2 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1
42 11.93 RPS6KA5 RPS6KA3 PLD1 FOS CREB1
43
Show member pathways
11.92 RPS6KB2 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 CREB1
44 11.91 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1 PLD1 FOS
45
Show member pathways
11.88 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 CREB1 ATF4
46 11.86 FOS CREB1 ATF4
47 11.83 RPS6KA5 CREB1 ATF4
48
Show member pathways
11.79 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1 FOS CREB1
49
Show member pathways
11.78 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1
50 11.76 RPS6KA5 FOS CREB1

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 nucleoplasm GO:0005654 9.9 RPS6KB2 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1
2 nucleus GO:0005634 9.83 ZNF81 ZNF41 RPS6KB2 RPS6KA6 RPS6KA5 RPS6KA3
3 ATF4-CREB1 transcription factor complex GO:1990589 8.62 CREB1 ATF4

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

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.03 RPS6KB2 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 OPHN1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.95 RPS6KA5 RPS6KA3 RPS6KA1 FOS CREB1 ATRX
3 regulation of transcription, DNA-templated GO:0006355 9.92 ZNF81 ZNF41 RPS6KA5 MECP2 FOS CREB1
4 phosphorylation GO:0016310 9.73 RPS6KB2 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1
5 intracellular signal transduction GO:0035556 9.43 RPS6KB2 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1
6 regulation of DNA-templated transcription in response to stress GO:0043620 9.37 RPS6KA3 RPS6KA1
7 protein phosphorylation GO:0006468 9.23 RPS6KB2 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1
8 regulation of translation in response to stress GO:0043555 9.16 RPS6KA3 RPS6KA1

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.91 RPS6KB2 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1
2 kinase activity GO:0016301 9.8 RPS6KB2 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1
3 protein kinase activity GO:0004672 9.73 RPS6KB2 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1
4 magnesium ion binding GO:0000287 9.55 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1
5 protein serine/threonine kinase activity GO:0004674 9.43 RPS6KB2 RPS6KA6 RPS6KA5 RPS6KA3 RPS6KA2 RPS6KA1
6 ribosomal protein S6 kinase activity GO:0004711 9.02 RPS6KB2 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1

Sources for Coffin-Lowry Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....