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 54
Partial Monosomy 6p 54
6p Deletion 54
6p Monosomy 54
Deletion 6p 54
Monosomy 6p 54

Classifications:



Summaries for Chromosome 6p Deletion

NIH Rare Diseases : 54 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 19)
# Related Disease Score Top Affiliating Genes
1 ritscher-schinzel syndrome 1 11.4
2 chromosome 6pter-p24 deletion syndrome 11.3
3 larsen syndrome 10.0
4 mental retardation, buenos aires type 10.0
5 1q duplications 10.0
6 chromosomal triplication 10.0
7 intellectual deficit buenos-aires type 10.0
8 trisomy 1q 10.0
9 ulnar-mammary syndrome 9.9
10 lipoid congenital adrenal hyperplasia 9.9
11 charge syndrome 9.9
12 myelodysplastic syndrome 9.9
13 tooth agenesis 9.9
14 scoliosis 9.9
15 ritscher-schinzel syndrome 9.9
16 ehlers-danlos syndrome 9.9
17 polyneuropathy 9.9
18 axenfeld-rieger syndrome 9.9
19 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 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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