MRXSRC
MCID: RYN006
MIFTS: 29

Raynaud-Claes Syndrome (MRXSRC)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Raynaud-Claes Syndrome

MalaCards integrated aliases for Raynaud-Claes Syndrome:

Name: Raynaud-Claes Syndrome 57 12 72
Mental Retardation, X-Linked 49 57 72 13 70
Mrxsrc 57 12 72
Mrx49 57 12 72
Mental Retardation, X-Linked 15 57 72
Mental Retardation 49, X-Linked 29 6
Mrx15 57 12
Mental Retardation, X-Linked 49; Mrx49 57
Mental Retardation, X-Linked 15; Mrx15 57
Mental Retardation, X-Linked 49/15 72
X-Linked Mental Retardation 15 12
X-Linked Mental Retardation 49 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked dominant

Miscellaneous:
some carrier females may be mildly to severely affected
hemizygous females with de novo mutation have been reported to have clinical features similar to that of hemizygous males


HPO:

31

Classifications:



Summaries for Raynaud-Claes Syndrome

OMIM® : 57 Raynaud-Claes syndrome is an X-linked intellectual developmental disorder characterized by borderline to severe intellectual disability and impaired language development. Additional features include behavioral problems, psychiatric disorders, seizures (variable forms), progressive ataxia, brain abnormalities, and facial dysmorphisms. Some heterozygous females are unaffected, whereas others are affected with a severity spectrum similar to that seen in males (summary by Palmer et al. (2018)). (300114) (Updated 05-Apr-2021)

MalaCards based summary : Raynaud-Claes Syndrome, also known as mental retardation, x-linked 49, is related to syndromic x-linked intellectual disability cabezas type and hypotonia. An important gene associated with Raynaud-Claes Syndrome is CLCN4 (Chloride Voltage-Gated Channel 4). Related phenotypes are scoliosis and behavioral abnormality

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has material basis in heterozygous or hemizygous mutation in CLCN4 on chromosome Xp22.2.

UniProtKB/Swiss-Prot : 72 Raynaud-Claes syndrome: An X-linked syndrome characterized by borderline to severe intellectual disability and impaired language development. Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms.

Related Diseases for Raynaud-Claes Syndrome

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

# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability cabezas type 11.4
2 hypotonia 9.9
3 intellectual developmental disorder, x-linked 50 9.9
4 non-syndromic x-linked intellectual disability 9.9
5 non-syndromic x-linked intellectual disability 50 9.9

Graphical network of the top 20 diseases related to Raynaud-Claes Syndrome:



Diseases related to Raynaud-Claes Syndrome

Symptoms & Phenotypes for Raynaud-Claes Syndrome

Human phenotypes related to Raynaud-Claes Syndrome:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 behavioral abnormality 31 occasional (7.5%) HP:0000708
3 strabismus 31 occasional (7.5%) HP:0000486
4 cerebral cortical atrophy 31 very rare (1%) HP:0002120
5 downslanted palpebral fissures 31 very rare (1%) HP:0000494
6 cerebral visual impairment 31 very rare (1%) HP:0100704
7 epileptic encephalopathy 31 very rare (1%) HP:0200134
8 depressivity 31 HP:0000716
9 coarse facial features 31 HP:0000280
10 global developmental delay 31 HP:0001263
11 mandibular prognathia 31 HP:0000303
12 intellectual disability, mild 31 HP:0001256
13 absent speech 31 HP:0001344
14 anxiety 31 HP:0000739
15 obsessive-compulsive behavior 31 HP:0000722
16 long face 31 HP:0000276
17 bipolar affective disorder 31 HP:0007302
18 midface retrusion 31 HP:0011800
19 autistic behavior 31 HP:0000729
20 aggressive behavior 31 HP:0000718
21 generalized hypotonia 31 HP:0001290
22 lower limb spasticity 31 HP:0002061
23 progressive cerebellar ataxia 31 HP:0002073
24 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Behavioral Psychiatric Manifestations:
anxiety
obsessive-compulsive behavior
autistic behavior
aggressive behavior
depression
more
Muscle Soft Tissue:
hypotonia

Skeletal Spine:
scoliosis (in some patients)

Growth Other:
lean body habitus (in some adult patients)

Head And Neck Face:
long face
flat midface
prominent chin
coarse facial features (1 family)

Neurologic Central Nervous System:
mental retardation
language delay
delayed psychomotor development
cerebral atrophy (in some patients)
cortical atrophy (in some patients)
more
Head And Neck Eyes:
downslanting palpebral fissures (in some patients)
strabismus (in some patients)
cortical visual impairment (rare)

Head And Neck Nose:
straight nose

Clinical features from OMIM®:

300114 (Updated 05-Apr-2021)

Drugs & Therapeutics for Raynaud-Claes Syndrome

Search Clinical Trials , NIH Clinical Center for Raynaud-Claes Syndrome

Genetic Tests for Raynaud-Claes Syndrome

Genetic tests related to Raynaud-Claes Syndrome:

# Genetic test Affiliating Genes
1 Mental Retardation 49, X-Linked 29 CLCN4

Anatomical Context for Raynaud-Claes Syndrome

Publications for Raynaud-Claes Syndrome

Articles related to Raynaud-Claes Syndrome:

(show all 11)
# Title Authors PMID Year
1
Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50). 61 57 6
9415477 1997
2
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 57 6
27550844 2018
3
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 6 57
25644381 2016
4
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 6 57
23647072 2013
5
X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1. 6 57
8826458 1996
6
Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3. 57
10232745 1999
7
Nomenclature guidelines for X-linked mental retardation. 57
1605216 1992
8
Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes. 61
18194880 2008
9
Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus. 61
11474655 2001
10
A familial X/Y translocation: cytogenetic and molecular study. 61
14564057 2001
11
Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X-inactivation patterns. 61
10766981 2000

Variations for Raynaud-Claes Syndrome

ClinVar genetic disease variations for Raynaud-Claes Syndrome:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCN4 NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg) SNV Pathogenic 100781 rs587777161 GRCh37: X:10181774-10181774
GRCh38: X:10213734-10213734
2 CLCN4 NM_001830.4(CLCN4):c.2191G>C (p.Gly731Arg) SNV Pathogenic 253113 rs1569233549 GRCh37: X:10188916-10188916
GRCh38: X:10220876-10220876
3 CLCN4 NM_001830.4(CLCN4):c.1606G>A (p.Val536Met) SNV Pathogenic 253116 rs1569231897 GRCh37: X:10181750-10181750
GRCh38: X:10213710-10213710
4 CLCN4 NM_001830.4(CLCN4):c.232G>A (p.Gly78Ser) SNV Pathogenic 253114 rs1569226551 GRCh37: X:10155642-10155642
GRCh38: X:10187602-10187602
5 CLCN4 NM_001830.4(CLCN4):c.43_55del (p.Asp15fs) Deletion Pathogenic 253112 GRCh37: X:10153111-10153123
GRCh38: X:10185071-10185083
6 CLCN4 NM_001830.4(CLCN4):c.661C>G (p.Leu221Val) SNV Pathogenic 253115 rs1569230006 GRCh37: X:10174503-10174503
GRCh38: X:10206463-10206463
7 CLCN4 CLCN4, ARG718TRP SNV Pathogenic 590286 GRCh37:
GRCh38:
8 CLCN4 NM_001830.4(CLCN4):c.1399G>A (p.Gly467Ser) SNV Likely pathogenic 807385 rs1602159841 GRCh37: X:10180516-10180516
GRCh38: X:10212476-10212476
9 CLCN4 NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu) SNV Likely pathogenic 827824 rs1246068842 GRCh37: X:10188776-10188776
GRCh38: X:10220736-10220736
10 CLCN4 NM_001830.4(CLCN4):c.373del (p.Asp125fs) Deletion Likely pathogenic 976142 GRCh37: X:10163078-10163078
GRCh38: X:10195038-10195038
11 CLCN4 NM_001830.4(CLCN4):c.1646T>C (p.Ile549Thr) SNV Likely pathogenic 976472 GRCh37: X:10181790-10181790
GRCh38: X:10213750-10213750
12 CLCN4 NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser) SNV Likely pathogenic 495273 rs1555976973 GRCh37: X:10180693-10180693
GRCh38: X:10212653-10212653
13 CLCN4 NM_001830.4(CLCN4):c.1202T>C (p.Leu401Pro) SNV Likely pathogenic 988775 GRCh37: X:10176443-10176443
GRCh38: X:10208403-10208403
14 CLCN4 NM_001830.4(CLCN4):c.832del (p.Ser278fs) Deletion Likely pathogenic 983535 GRCh37: X:10174805-10174805
GRCh38: X:10206765-10206765
15 CLCN4 NM_001830.4(CLCN4):c.130G>A (p.Asp44Asn) SNV Uncertain significance 988758 GRCh37: X:10153202-10153202
GRCh38: X:10185162-10185162
16 CLCN4 NM_001830.4(CLCN4):c.944G>A (p.Arg315His) SNV Uncertain significance 996971 GRCh37: X:10176185-10176185
GRCh38: X:10208145-10208145
17 CLCN4 NM_001830.4(CLCN4):c.10G>T (p.Ala4Ser) SNV Uncertain significance 625920 rs1015209935 GRCh37: X:10153082-10153082
GRCh38: X:10185042-10185042
18 CLCN4 NM_001830.4(CLCN4):c.1561G>A (p.Ala521Thr) SNV Uncertain significance 1030482 GRCh37: X:10180678-10180678
GRCh38: X:10212638-10212638
19 CLCN4 NM_001830.4(CLCN4):c.2038C>A (p.Pro680Thr) SNV Uncertain significance 992811 GRCh37: X:10188763-10188763
GRCh38: X:10220723-10220723
20 CLCN4 NM_001830.4(CLCN4):c.469A>C (p.Ile157Leu) SNV Uncertain significance 982984 GRCh37: X:10166015-10166015
GRCh38: X:10197975-10197975

UniProtKB/Swiss-Prot genetic disease variations for Raynaud-Claes Syndrome:

72 (show all 11)
# Symbol AA change Variation ID SNP ID
1 CLCN4 p.Gly78Ser VAR_077819 rs156922655
2 CLCN4 p.Leu221Val VAR_077820 rs156923000
3 CLCN4 p.Val536Met VAR_077821 rs156923189
4 CLCN4 p.Gly544Arg VAR_077822 rs587777161
5 CLCN4 p.Gly731Arg VAR_077823 rs156923354
6 CLCN4 p.Val212Gly VAR_083578 rs879255580
7 CLCN4 p.Leu221Pro VAR_083579 rs879255581
8 CLCN4 p.Val275Met VAR_083580 rs879255585
9 CLCN4 p.Ser534Leu VAR_083581 rs879255582
10 CLCN4 p.Ala555Val VAR_083582 rs879255583
11 CLCN4 p.Arg718Trp VAR_083583 rs879255584

Expression for Raynaud-Claes Syndrome

Search GEO for disease gene expression data for Raynaud-Claes Syndrome.

Pathways for Raynaud-Claes Syndrome

GO Terms for Raynaud-Claes Syndrome

Sources for Raynaud-Claes Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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