MCID: CHR460
MIFTS: 8

Chromosome Xq Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome Xq Deletion

MalaCards integrated aliases for Chromosome Xq Deletion:

Name: Chromosome Xq Deletion 54
Partial Monosomy Xq 54
Monosomy Xq 54
Xq Deletion 54
Xq Monosomy 54

Classifications:



Summaries for Chromosome Xq Deletion

MalaCards based summary : Chromosome Xq Deletion, also known as partial monosomy xq, is related to premature ovarian failure 1 and epilepsy.

Related Diseases for Chromosome Xq Deletion

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

# Related Disease Score Top Affiliating Genes
1 premature ovarian failure 1 10.2
2 epilepsy 10.1
3 focal epilepsy 10.1
4 xp22.3 microdeletion syndrome 9.9

Symptoms & Phenotypes for Chromosome Xq Deletion

Drugs & Therapeutics for Chromosome Xq Deletion

Search Clinical Trials , NIH Clinical Center for Chromosome Xq Deletion

Genetic Tests for Chromosome Xq Deletion

Anatomical Context for Chromosome Xq Deletion

Publications for Chromosome Xq Deletion

Articles related to Chromosome Xq Deletion:

# Title Authors Year
1
Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features. ( 18166284 )
2008

Variations for Chromosome Xq Deletion

Expression for Chromosome Xq Deletion

Search GEO for disease gene expression data for Chromosome Xq Deletion.

Pathways for Chromosome Xq Deletion

GO Terms for Chromosome Xq Deletion

Sources for Chromosome Xq Deletion

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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