MCID: CHR275
MIFTS: 11

Chromosome Xq28 Deletion Syndrome

Categories: Rare diseases

Aliases & Classifications for Chromosome Xq28 Deletion Syndrome

MalaCards integrated aliases for Chromosome Xq28 Deletion Syndrome:

Name: Chromosome Xq28 Deletion Syndrome 54 30 6
X Chromosome, Monosomy Xq28 54 30
Xq28 Deletion Syndrome 54

Classifications:



Summaries for Chromosome Xq28 Deletion Syndrome

MalaCards based summary : Chromosome Xq28 Deletion Syndrome, also known as x chromosome, monosomy xq28, is related to moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism and deafness, dystonia, and cerebral hypomyelination, and has symptoms including abnormal pyramidal signs An important gene associated with Chromosome Xq28 Deletion Syndrome is BCAP31 (B Cell Receptor Associated Protein 31).

Related Diseases for Chromosome Xq28 Deletion Syndrome

Diseases related to Chromosome Xq28 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism 11.4
2 deafness, dystonia, and cerebral hypomyelination 9.6 ABCD1 BCAP31
3 adrenoleukodystrophy 9.5 ABCD1 BCAP31

Symptoms & Phenotypes for Chromosome Xq28 Deletion Syndrome

UMLS symptoms related to Chromosome Xq28 Deletion Syndrome:


abnormal pyramidal signs

Drugs & Therapeutics for Chromosome Xq28 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome Xq28 Deletion Syndrome

Genetic Tests for Chromosome Xq28 Deletion Syndrome

Genetic tests related to Chromosome Xq28 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome Xq28 Deletion Syndrome 30 BCAP31
2 X Chromosome, Monosomy Xq28 30

Anatomical Context for Chromosome Xq28 Deletion Syndrome

Publications for Chromosome Xq28 Deletion Syndrome

Articles related to Chromosome Xq28 Deletion Syndrome:

# Title Authors Year
1
Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus. ( 24011989 )
2013

Variations for Chromosome Xq28 Deletion Syndrome

ClinVar genetic disease variations for Chromosome Xq28 Deletion Syndrome:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 BCAP31 NM_005745.7(BCAP31): c.194-2A> G single nucleotide variant Pathogenic rs879255569 GRCh37 Chromosome X, 152981146: 152981146
2 BCAP31 NM_005745.7(BCAP31): c.194-2A> G single nucleotide variant Pathogenic rs879255569 GRCh38 Chromosome X, 153715691: 153715691
3 BCAP31 NC_000023.11: g.153696346_153701690del deletion Pathogenic GRCh38 Chromosome X, 153696346: 153701690
4 BCAP31 NM_005745.7(BCAP31): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs397515620 GRCh37 Chromosome X, 152986423: 152986423
5 BCAP31 NM_005745.7(BCAP31): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs397515620 GRCh38 Chromosome X, 153720968: 153720968
6 BCAP31 NM_001139457.2(BCAP31): c.107C> A (p.Ser36Ter) single nucleotide variant Pathogenic rs1057518721 GRCh37 Chromosome X, 152989013: 152989013
7 BCAP31 NM_001139457.2(BCAP31): c.107C> A (p.Ser36Ter) single nucleotide variant Pathogenic rs1057518721 GRCh38 Chromosome X, 153723558: 153723558
8 BCAP31 NM_001139441.1(BCAP31): c.341+2T> G single nucleotide variant Pathogenic rs1064794057 GRCh38 Chromosome X, 153715540: 153715540
9 BCAP31 NM_001139441.1(BCAP31): c.341+2T> G single nucleotide variant Pathogenic rs1064794057 GRCh37 Chromosome X, 152980995: 152980995
10 BCAP31 NM_005745.7(BCAP31): c.365_366delTC (p.Leu122Hisfs) deletion Pathogenic rs1557047954 GRCh37 Chromosome X, 152969525: 152969526
11 BCAP31 NM_005745.7(BCAP31): c.365_366delTC (p.Leu122Hisfs) deletion Pathogenic rs1557047954 GRCh38 Chromosome X, 153704070: 153704071
12 ABCD1; BCAP31; PLXNB3 GRCh37/hg19 Xq28(chrX: 152980470-153032459) copy number loss Pathogenic GRCh37 Chromosome X, 152980470: 153032459

Expression for Chromosome Xq28 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome Xq28 Deletion Syndrome.

Pathways for Chromosome Xq28 Deletion Syndrome

GO Terms for Chromosome Xq28 Deletion Syndrome

Cellular components related to Chromosome Xq28 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 8.62 ABCD1 BCAP31

Sources for Chromosome Xq28 Deletion 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
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38 KEGG
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45 MeSH
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47 MGI
50 NCI
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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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