MCID: CHR255
MIFTS: 11

Chromosome 6p Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 6p Deletion

MalaCards integrated aliases for Chromosome 6p Deletion:

Name: Chromosome 6p Deletion 53
Partial Monosomy 6p 53
6p Deletion 53
6p Monosomy 53
Deletion 6p 53
Monosomy 6p 53

Classifications:



Summaries for Chromosome 6p Deletion

NIH Rare Diseases : 53 Chromosome 6p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Chromosome 6p deletion can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 6p Deletion, also known as partial monosomy 6p, is related to ritscher-schinzel syndrome 1 and chromosome 6pter-p24 deletion syndrome.

Related Diseases for Chromosome 6p Deletion

Diseases related to Chromosome 6p Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 ritscher-schinzel syndrome 1 11.3
2 chromosome 6pter-p24 deletion syndrome 11.2
3 larsen syndrome 10.0
4 mental retardation, buenos aires type 10.0
5 1q duplications 10.0
6 intellectual deficit buenos-aires type 10.0
7 trisomy 1q 10.0
8 lipoid congenital adrenal hyperplasia 9.9
9 charge syndrome 9.9
10 ritscher-schinzel syndrome 9.9
11 ehlers-danlos syndrome 9.9
12 axenfeld-rieger syndrome 9.9
13 ring chromosome 6 9.9

Graphical network of the top 20 diseases related to Chromosome 6p Deletion:



Diseases related to Chromosome 6p Deletion

Symptoms & Phenotypes for Chromosome 6p Deletion

Drugs & Therapeutics for Chromosome 6p Deletion

Search Clinical Trials , NIH Clinical Center for Chromosome 6p Deletion

Genetic Tests for Chromosome 6p Deletion

Anatomical Context for Chromosome 6p Deletion

Publications for Chromosome 6p Deletion

Articles related to Chromosome 6p Deletion:

# Title Authors Year
1
Unbalanced translocation 6p/16q (partial monosomy 6p and trisomy 16q): prenatal diagnosis and cytogenetics. ( 20211513 )
2010
2
Gene dosage effects for coagulation factors XII (F12) and XIII subunit A (F13A) in a case of partial monosomy 6p resulting from a maternal pericentric inversion of chromosome 6. ( 3454378 )
1987

Variations for Chromosome 6p Deletion

Expression for Chromosome 6p Deletion

Search GEO for disease gene expression data for Chromosome 6p Deletion.

Pathways for Chromosome 6p Deletion

GO Terms for Chromosome 6p Deletion

Sources for Chromosome 6p Deletion

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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