MRX49
MCID: RYN006
MIFTS: 23

Raynaud-Claes Syndrome (MRX49)

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
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
Mental Retardation, X-Linked-49 13
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 perrault syndrome 1 and chromosome xp deletion. 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 perrault syndrome 1 11.2
2 chromosome xp deletion 10.2
3 hypotonia 10.2

Symptoms & Phenotypes for Raynaud-Claes Syndrome

Human phenotypes related to Raynaud-Claes Syndrome:

33 (show all 8)
# 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 coarse facial features 33 HP:0000280
5 global developmental delay 33 HP:0001263
6 intellectual disability, mild 33 HP:0001256
7 absent speech 33 HP:0001344
8 generalized hypotonia 33 HP:0001290

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

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 14)
# 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

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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