MRXSRC
MCID: RYN006
MIFTS: 27

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 58
Mental Retardation, X-Linked 49 58 76 13
Mental Retardation, X-Linked 15 58 76
Mental Retardation 49, X-Linked 30 6
Mrx49 58 76
Mental Retardation, X-Linked 49; Mrx49 58
Mental Retardation, X-Linked 15; Mrx15 58
Mental Retardation, X-Linked 49/15 76
Mrxsrc 58
Mrx15 58

Characteristics:

OMIM:

58
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:

33
raynaud-claes syndrome:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



Summaries for Raynaud-Claes Syndrome

OMIM : 58 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)

MalaCards based summary : Raynaud-Claes Syndrome, also known as mental retardation, x-linked 49, is related to cone-rod dystrophy and hearing loss 2 and hypotonia. An important gene associated with Raynaud-Claes Syndrome is CLCN4 (Chloride Voltage-Gated Channel 4). Affiliated tissues include brain, and related phenotypes are scoliosis and behavioral abnormality

UniProtKB/Swiss-Prot : 76 Mental retardation, X-linked 49: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.

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 cone-rod dystrophy and hearing loss 2 11.2
2 hypotonia 10.1
3 mental retardation, x-linked 50 10.1
4 chromosome xp deletion 10.1

Symptoms & Phenotypes for Raynaud-Claes Syndrome

Human phenotypes related to Raynaud-Claes Syndrome:

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 occasional (7.5%) HP:0002650
2 behavioral abnormality 33 occasional (7.5%) HP:0000708
3 strabismus 33 occasional (7.5%) HP:0000486
4 cerebral cortical atrophy 33 very rare (1%) HP:0002120
5 epileptic encephalopathy 33 very rare (1%) HP:0200134
6 downslanted palpebral fissures 33 very rare (1%) HP:0000494
7 cerebral visual impairment 33 very rare (1%) HP:0100704
8 depressivity 33 HP:0000716
9 seizures 33 HP:0001250
10 coarse facial features 33 HP:0000280
11 mandibular prognathia 33 HP:0000303
12 global developmental delay 33 HP:0001263
13 intellectual disability, mild 33 HP:0001256
14 absent speech 33 HP:0001344
15 anxiety 33 HP:0000739
16 aggressive behavior 33 HP:0000718
17 long face 33 HP:0000276
18 bipolar affective disorder 33 HP:0007302
19 obsessive-compulsive behavior 33 HP:0000722
20 midface retrusion 33 HP:0011800
21 progressive cerebellar ataxia 33 HP:0002073
22 generalized hypotonia 33 HP:0001290
23 lower limb spasticity 33 HP:0002061
24 autistic behavior 33 HP:0000729

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
anxiety
aggressive behavior
obsessive-compulsive behavior
autistic 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
cortical atrophy (in some patients)
intellectual disability (mild to profound)
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

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 30 CLCN4

Anatomical Context for Raynaud-Claes Syndrome

MalaCards organs/tissues related to Raynaud-Claes Syndrome:

42
Brain

Publications for Raynaud-Claes Syndrome

Articles related to Raynaud-Claes Syndrome:

# Title Authors Year
1
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. ( 27550844 )
2018
2
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. ( 25644381 )
2016
3
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. ( 23647072 )
2013
4
Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50). ( 9415477 )
1997
5
X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1. ( 8826458 )
1996

Variations for Raynaud-Claes Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 CLCN4 p.Gly78Ser VAR_077819
2 CLCN4 p.Leu221Val VAR_077820
3 CLCN4 p.Val536Met VAR_077821
4 CLCN4 p.Gly544Arg VAR_077822 rs587777161
5 CLCN4 p.Gly731Arg VAR_077823

ClinVar genetic disease variations for Raynaud-Claes Syndrome:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN4 NM_001830.3(CLCN4): c.1630G> A (p.Gly544Arg) single nucleotide variant Pathogenic rs587777161 GRCh37 Chromosome X, 10181774: 10181774
2 CLCN4 NM_001830.3(CLCN4): c.1630G> A (p.Gly544Arg) single nucleotide variant Pathogenic rs587777161 GRCh38 Chromosome X, 10213734: 10213734
3 CLCN4 CLCN4, 13-BP DEL deletion Pathogenic
4 CLCN4 NM_001830.3(CLCN4): c.2191G> C (p.Gly731Arg) single nucleotide variant Pathogenic GRCh37 Chromosome X, 10188916: 10188916
5 CLCN4 NM_001830.3(CLCN4): c.2191G> C (p.Gly731Arg) single nucleotide variant Pathogenic GRCh38 Chromosome X, 10220876: 10220876
6 CLCN4 NM_001830.3(CLCN4): c.232G> A (p.Gly78Ser) single nucleotide variant Pathogenic GRCh37 Chromosome X, 10155642: 10155642
7 CLCN4 NM_001830.3(CLCN4): c.232G> A (p.Gly78Ser) single nucleotide variant Pathogenic GRCh38 Chromosome X, 10187602: 10187602
8 CLCN4 NM_001830.3(CLCN4): c.661C> G (p.Leu221Val) single nucleotide variant Pathogenic GRCh38 Chromosome X, 10206463: 10206463
9 CLCN4 NM_001830.3(CLCN4): c.661C> G (p.Leu221Val) single nucleotide variant Pathogenic GRCh37 Chromosome X, 10174503: 10174503
10 CLCN4 NM_001830.3(CLCN4): c.1606G> A (p.Val536Met) single nucleotide variant Pathogenic GRCh38 Chromosome X, 10213710: 10213710
11 CLCN4 NM_001830.3(CLCN4): c.1606G> A (p.Val536Met) single nucleotide variant Pathogenic GRCh37 Chromosome X, 10181750: 10181750
12 CLCN4 NM_001830.3(CLCN4): c.1576G> A (p.Gly526Ser) single nucleotide variant Likely pathogenic rs1555976973 GRCh37 Chromosome X, 10180693: 10180693
13 CLCN4 NM_001830.3(CLCN4): c.1576G> A (p.Gly526Ser) single nucleotide variant Likely pathogenic rs1555976973 GRCh38 Chromosome X, 10212653: 10212653
14 CLCN4 CLCN4, ARG718TRP single nucleotide variant Pathogenic
15 CLCN4 NM_001830.4(CLCN4): c.10G> T (p.Ala4Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 10153082: 10153082
16 CLCN4 NM_001830.4(CLCN4): c.10G> T (p.Ala4Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 10185042: 10185042

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