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 53 29 6
X Chromosome, Monosomy Xq28 53 29
Deletion Syndrome, Chromosome Xq28 40
Xq28 Deletion Syndrome 53

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. 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 11.3
2 deafness, dystonia, and cerebral hypomyelination 9.8 ABCD1 BCAP31
3 peroxisomal biogenesis disorders 9.8 ABCD1 BCAP31
4 adrenoleukodystrophy 9.7 ABCD1 BCAP31

Symptoms & Phenotypes for Chromosome Xq28 Deletion Syndrome

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 29 BCAP31
2 X Chromosome, Monosomy Xq28 29

Anatomical Context for Chromosome Xq28 Deletion Syndrome

Publications for Chromosome Xq28 Deletion Syndrome

Variations for Chromosome Xq28 Deletion Syndrome

ClinVar genetic disease variations for Chromosome Xq28 Deletion Syndrome:

6 (show all 11)
# 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 GRCh37 Chromosome X, 152969525: 152969526
11 BCAP31 NM_005745.7(BCAP31): c.365_366delTC (p.Leu122Hisfs) deletion Pathogenic GRCh38 Chromosome X, 153704070: 153704071

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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